##fileformat=VCFv4.3
##FILTER=<ID=PASS,Description="All filters passed">
##fileDate=27022019_15h52m43s
##source=IGSRpipeline
##reference=ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/technical/reference/GRCh38_reference_genome/GRCh38_full_analysis_set_plus_decoy_hla.fa
##FORMAT=<ID=GT,Number=1,Type=String,Description="Phased Genotype">
##contig=<ID=7>
##INFO=<ID=AF,Number=A,Type=Float,Description="Estimated allele frequency in the range (0,1)">
##INFO=<ID=AC,Number=A,Type=Integer,Description="Total number of alternate alleles in called genotypes">
##INFO=<ID=NS,Number=1,Type=Integer,Description="Number of samples with data">
##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes">
##INFO=<ID=EAS_AF,Number=A,Type=Float,Description="Allele frequency in the EAS populations calculated from AC and AN, in the range (0,1)">
##INFO=<ID=EUR_AF,Number=A,Type=Float,Description="Allele frequency in the EUR populations calculated from AC and AN, in the range (0,1)">
##INFO=<ID=AFR_AF,Number=A,Type=Float,Description="Allele frequency in the AFR populations calculated from AC and AN, in the range (0,1)">
##INFO=<ID=AMR_AF,Number=A,Type=Float,Description="Allele frequency in the AMR populations calculated from AC and AN, in the range (0,1)">
##INFO=<ID=SAS_AF,Number=A,Type=Float,Description="Allele frequency in the SAS populations calculated from AC and AN, in the range (0,1)">
##INFO=<ID=VT,Number=.,Type=String,Description="indicates what type of variant the line represents">
##INFO=<ID=EX_TARGET,Number=0,Type=Flag,Description="indicates whether a variant is within the exon pull down target boundaries">
##INFO=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth; some reads may have been filtered">
##bcftools_viewVersion=1.15.1+htslib-1.15.1
##bcftools_viewCommand=view -Oz -r 7:853-30925516 http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/data_collections/1000_genomes_project/release/20190312_biallelic_SNV_and_INDEL/ALL.chr7.shapeit2_integrated_snvindels_v2a_27022019.GRCh38.phased.vcf.gz; Date=Thu Jul 21 19:52:19 2022
##VEP="v107" time="2022-07-22 02:00:09" cache="/net/isilonP/public/ro/ensweb-data/latest/tools/www/e107/vep/cache/homo_sapiens/107_GRCh38" db="homo_sapiens_core_107_38@hh-mysql-ens-species-web-1" 1000genomes="phase3" COSMIC="95" ClinVar="202201" HGMD-PUBLIC="20204" assembly="GRCh38.p13" dbSNP="154" gencode="GENCODE 41" genebuild="2014-07" gnomADe="r2.1.1" gnomADg="v3.1.2" polyphen="2.2.2" regbuild="1.0" sift="sift5.2.2"
##INFO=<ID=CSQ,Number=.,Type=String,Description="Consequence annotations from Ensembl VEP. Format: Allele|Consequence|IMPACT|SYMBOL|Gene|Feature_type|Feature|BIOTYPE|EXON|INTRON|HGVSc|HGVSp|cDNA_position|CDS_position|Protein_position|Amino_acids|Codons|Existing_variation|DISTANCE|STRAND|FLAGS|SYMBOL_SOURCE|HGNC_ID|MANE_SELECT|MANE_PLUS_CLINICAL|TSL|APPRIS|SIFT|PolyPhen|AF|CLIN_SIG|SOMATIC|PHENO|PUBMED|MOTIF_NAME|MOTIF_POS|HIGH_INF_POS|MOTIF_SCORE_CHANGE|TRANSCRIPTION_FACTORS">
##VEP-command-line=''
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT
ctgA	882	.	G	A	.	PASS	AC=2;AN=5096;DP=124284;AF=0;EAS_AF=0;EUR_AF=0;AFR_AF=0;AMR_AF=0;SAS_AF=0;EX_TARGET;VT=SNP;NS=2548;CSQ=A|5_prime_UTR_variant|MODIFIER|AQP1|ENSG00000240583|Transcript|ENST00000311813.11|protein_coding|1/4||||30|||||rs576875620||1||HGNC|HGNC:633|NM_198098.4||1|P1|||0.0004|||||||||,A|upstream_gene_variant|MODIFIER|AQP1|ENSG00000240583|Transcript|ENST00000441328.7|processed_transcript||||||||||rs576875620|173|1||HGNC|HGNC:633|||1||||0.0004|||||||||,A|upstream_gene_variant|MODIFIER|AQP1|ENSG00000240583|Transcript|ENST00000482461.1|processed_transcript||||||||||rs576875620|1409|1||HGNC|HGNC:633|||4||||0.0004|||||||||,A|upstream_gene_variant|MODIFIER|AQP1|ENSG00000240583|Transcript|ENST00000652692.1|protein_coding||||||||||rs576875620|240|1|cds_start_NF|HGNC|HGNC:633|||||||0.0004|||||||||,A|5_prime_UTR_variant|MODIFIER|AQP1|ENSG00000240583|Transcript|ENST00000652696.1|protein_coding|1/5||||30|||||rs576875620||1||HGNC|HGNC:633||||P1|||0.0004|||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000820824|promoter||||||||||rs576875620||||||||||||0.0004|||||||||	GT
ctgA	884	.	G	A	.	PASS	AC=2;AN=5096;DP=127179;AF=0;EAS_AF=0;EUR_AF=0;AFR_AF=0;AMR_AF=0;SAS_AF=0;EX_TARGET;VT=SNP;NS=2548;CSQ=A|5_prime_UTR_variant|MODIFIER|AQP1|ENSG00000240583|Transcript|ENST00000311813.11|protein_coding|1/4||||32|||||rs193214487||1||HGNC|HGNC:633|NM_198098.4||1|P1|||0.0004|||||||||,A|upstream_gene_variant|MODIFIER|AQP1|ENSG00000240583|Transcript|ENST00000441328.7|processed_transcript||||||||||rs193214487|171|1||HGNC|HGNC:633|||1||||0.0004|||||||||,A|upstream_gene_variant|MODIFIER|AQP1|ENSG00000240583|Transcript|ENST00000482461.1|processed_transcript||||||||||rs193214487|1407|1||HGNC|HGNC:633|||4||||0.0004|||||||||,A|upstream_gene_variant|MODIFIER|AQP1|ENSG00000240583|Transcript|ENST00000652692.1|protein_coding||||||||||rs193214487|238|1|cds_start_NF|HGNC|HGNC:633|||||||0.0004|||||||||,A|5_prime_UTR_variant|MODIFIER|AQP1|ENSG00000240583|Transcript|ENST00000652696.1|protein_coding|1/5||||32|||||rs193214487||1||HGNC|HGNC:633||||P1|||0.0004|||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000820824|promoter||||||||||rs193214487||||||||||||0.0004|||||||||	GT
ctgA	893	.	C	T	.	PASS	AC=1;AN=5096;DP=136274;AF=0;EAS_AF=0;EUR_AF=0;AFR_AF=0;AMR_AF=0;SAS_AF=0;EX_TARGET;VT=SNP;NS=2548;CSQ=T|5_prime_UTR_variant|MODIFIER|AQP1|ENSG00000240583|Transcript|ENST00000311813.11|protein_coding|1/4||||41|||||rs202016178||1||HGNC|HGNC:633|NM_198098.4||1|P1|||0.0002|||||||||,T|upstream_gene_variant|MODIFIER|AQP1|ENSG00000240583|Transcript|ENST00000441328.7|processed_transcript||||||||||rs202016178|162|1||HGNC|HGNC:633|||1||||0.0002|||||||||,T|upstream_gene_variant|MODIFIER|AQP1|ENSG00000240583|Transcript|ENST00000482461.1|processed_transcript||||||||||rs202016178|1398|1||HGNC|HGNC:633|||4||||0.0002|||||||||,T|upstream_gene_variant|MODIFIER|AQP1|ENSG00000240583|Transcript|ENST00000652692.1|protein_coding||||||||||rs202016178|229|1|cds_start_NF|HGNC|HGNC:633|||||||0.0002|||||||||,T|5_prime_UTR_variant|MODIFIER|AQP1|ENSG00000240583|Transcript|ENST00000652696.1|protein_coding|1/5||||41|||||rs202016178||1||HGNC|HGNC:633||||P1|||0.0002|||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000820824|promoter||||||||||rs202016178||||||||||||0.0002|||||||||	GT
ctgA	918	.	C	T	.	PASS	AC=1;AN=5096;DP=159560;AF=0;EAS_AF=0;EUR_AF=0;AFR_AF=0;AMR_AF=0;SAS_AF=0;EX_TARGET;VT=SNP;NS=2548;CSQ=T|synonymous_variant|LOW|AQP1|ENSG00000240583|Transcript|ENST00000311813.11|protein_coding|1/4||||66|9|3|S|agC/agT|rs574768358||1||HGNC|HGNC:633|NM_198098.4||1|P1|||0.0002|||||||||,T|upstream_gene_variant|MODIFIER|AQP1|ENSG00000240583|Transcript|ENST00000441328.7|processed_transcript||||||||||rs574768358|137|1||HGNC|HGNC:633|||1||||0.0002|||||||||,T|upstream_gene_variant|MODIFIER|AQP1|ENSG00000240583|Transcript|ENST00000482461.1|processed_transcript||||||||||rs574768358|1373|1||HGNC|HGNC:633|||4||||0.0002|||||||||,T|upstream_gene_variant|MODIFIER|AQP1|ENSG00000240583|Transcript|ENST00000652692.1|protein_coding||||||||||rs574768358|204|1|cds_start_NF|HGNC|HGNC:633|||||||0.0002|||||||||,T|synonymous_variant|LOW|AQP1|ENSG00000240583|Transcript|ENST00000652696.1|protein_coding|1/5||||66|9|3|S|agC/agT|rs574768358||1||HGNC|HGNC:633||||P1|||0.0002|||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000820824|promoter||||||||||rs574768358||||||||||||0.0002|||||||||	GT
ctgA	963	.	C	T	.	PASS	AC=1;AN=5096;DP=162501;AF=0;EAS_AF=0;EUR_AF=0;AFR_AF=0;AMR_AF=0;SAS_AF=0;EX_TARGET;VT=SNP;NS=2548;CSQ=T|synonymous_variant|LOW|AQP1|ENSG00000240583|Transcript|ENST00000311813.11|protein_coding|1/4||||111|54|18|F|ttC/ttT|rs542172945&COSV61266249&COSV61266345||1||HGNC|HGNC:633|NM_198098.4||1|P1|||0.0002||0&1&1|0&1&1||||||,T|upstream_gene_variant|MODIFIER|AQP1|ENSG00000240583|Transcript|ENST00000441328.7|processed_transcript||||||||||rs542172945&COSV61266249&COSV61266345|92|1||HGNC|HGNC:633|||1||||0.0002||0&1&1|0&1&1||||||,T|upstream_gene_variant|MODIFIER|AQP1|ENSG00000240583|Transcript|ENST00000482461.1|processed_transcript||||||||||rs542172945&COSV61266249&COSV61266345|1328|1||HGNC|HGNC:633|||4||||0.0002||0&1&1|0&1&1||||||,T|upstream_gene_variant|MODIFIER|AQP1|ENSG00000240583|Transcript|ENST00000652692.1|protein_coding||||||||||rs542172945&COSV61266249&COSV61266345|159|1|cds_start_NF|HGNC|HGNC:633|||||||0.0002||0&1&1|0&1&1||||||,T|synonymous_variant|LOW|AQP1|ENSG00000240583|Transcript|ENST00000652696.1|protein_coding|1/5||||111|54|18|F|ttC/ttT|rs542172945&COSV61266249&COSV61266345||1||HGNC|HGNC:633||||P1|||0.0002||0&1&1|0&1&1||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000820824|promoter||||||||||rs542172945&COSV61266249&COSV61266345||||||||||||0.0002||0&1&1|0&1&1||||||	GT
ctgA	997	.	G	A	.	PASS	AC=1;AN=5096;DP=162678;AF=0;EAS_AF=0;EUR_AF=0;AFR_AF=0;AMR_AF=0;SAS_AF=0;EX_TARGET;VT=SNP;NS=2548;CSQ=A|missense_variant|MODERATE|AQP1|ENSG00000240583|Transcript|ENST00000311813.11|protein_coding|1/4||||145|88|30|G/S|Ggt/Agt|rs147526690&COSV100310952||1||HGNC|HGNC:633|NM_198098.4||1|P1|tolerated(0.14)|possibly_damaging(0.565)|0.0002||0&1|0&1||||||,A|upstream_gene_variant|MODIFIER|AQP1|ENSG00000240583|Transcript|ENST00000441328.7|processed_transcript||||||||||rs147526690&COSV100310952|58|1||HGNC|HGNC:633|||1||||0.0002||0&1|0&1||||||,A|upstream_gene_variant|MODIFIER|AQP1|ENSG00000240583|Transcript|ENST00000482461.1|processed_transcript||||||||||rs147526690&COSV100310952|1294|1||HGNC|HGNC:633|||4||||0.0002||0&1|0&1||||||,A|upstream_gene_variant|MODIFIER|AQP1|ENSG00000240583|Transcript|ENST00000652692.1|protein_coding||||||||||rs147526690&COSV100310952|125|1|cds_start_NF|HGNC|HGNC:633|||||||0.0002||0&1|0&1||||||,A|missense_variant|MODERATE|AQP1|ENSG00000240583|Transcript|ENST00000652696.1|protein_coding|1/5||||145|88|30|G/S|Ggt/Agt|rs147526690&COSV100310952||1||HGNC|HGNC:633||||P1|tolerated(0.14)|possibly_damaging(0.565)|0.0002||0&1|0&1||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000820824|promoter||||||||||rs147526690&COSV100310952||||||||||||0.0002||0&1|0&1||||||	GT
