{"_id":"chr16:g.16016419G>T","_version":1,"chrom":"16","dbsnp":{"_license":"http://bit.ly/2AqoLOc","alleles":[{"allele":"G","freq":{"dbgap_popfreq":1.0,"gnomad":1.0,"topmed":1.0}},{"allele":"T","freq":{"dbgap_popfreq":0.0,"gnomad":0.0,"topmed":0.0}}],"alt":"T","chrom":"16","dbsnp_build":156,"gene":{"geneid":4363,"is_pseudo":false,"name":"ATP binding cassette subfamily C member 1","rnas":[{"hgvs":"NM_004996.4:c.490-77=","protein_product":{"refseq":"NP_004987.2"},"refseq":"NM_004996.4","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_011522497.2:c.466-77=","protein_product":{"refseq":"XP_011520799.1"},"refseq":"XM_011522497.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_017023237.2:c.544-77=","protein_product":{"refseq":"XP_016878726.1"},"refseq":"XM_017023237.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047434131.1:c.649-77=","protein_product":{"refseq":"XP_047290087.1"},"refseq":"XM_047434131.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047434132.1:c.648+1791=","protein_product":{"refseq":"XP_047290088.1"},"refseq":"XM_047434132.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047434133.1:c.511-77=","protein_product":{"refseq":"XP_047290089.1"},"refseq":"XM_047434133.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047434134.1:c.508-77=","protein_product":{"refseq":"XP_047290090.1"},"refseq":"XM_047434134.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047434135.1:c.649-77=","protein_product":{"refseq":"XP_047290091.1"},"refseq":"XM_047434135.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047434136.1:c.649-77=","protein_product":{"refseq":"XP_047290092.1"},"refseq":"XM_047434136.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047434137.1:c.510+6518=","protein_product":{"refseq":"XP_047290093.1"},"refseq":"XM_047434137.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047434138.1:c.489+1791=","protein_product":{"refseq":"XP_047290094.1"},"refseq":"XM_047434138.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047434140.1:c.352-77=","protein_product":{"refseq":"XP_047290096.1"},"refseq":"XM_047434140.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047434141.1:c.490-77=","protein_product":{"refseq":"XP_047290097.1"},"refseq":"XM_047434141.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047434142.1:c.649-77=","protein_product":{"refseq":"XP_047290098.1"},"refseq":"XM_047434142.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047434143.1:c.490-77=","protein_product":{"refseq":"XP_047290099.1"},"refseq":"XM_047434143.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047434144.1:c.649-77=","protein_product":{"refseq":"XP_047290100.1"},"refseq":"XM_047434144.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047434145.1:c.351+6518=","protein_product":{"refseq":"XP_047290101.1"},"refseq":"XM_047434145.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047434146.1:c.489+1791=","protein_product":{"refseq":"XP_047290102.1"},"refseq":"XM_047434146.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047434147.1:c.489+1791=","protein_product":{"refseq":"XP_047290103.1"},"refseq":"XM_047434147.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047434148.1:c.490-77=","protein_product":{"refseq":"XP_047290104.1"},"refseq":"XM_047434148.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047434149.1:c.490-77=","protein_product":{"refseq":"XP_047290105.1"},"refseq":"XM_047434149.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047434151.1:c.351+6518=","protein_product":{"refseq":"XP_047290107.1"},"refseq":"XM_047434151.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047434152.1:c.352-77=","protein_product":{"refseq":"XP_047290108.1"},"refseq":"XM_047434152.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047434153.1:c.489+1791=","protein_product":{"refseq":"XP_047290109.1"},"refseq":"XM_047434153.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047434154.1:c.490-77=","protein_product":{"refseq":"XP_047290110.1"},"refseq":"XM_047434154.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]}],"strand":"+","symbol":"ABCC1"},"hg38":{"end":16016419,"start":16016419},"ref":"G","rsid":"rs1465092797","vartype":"snv"},"gnomad_genome":{"_license":"http://bit.ly/2I1cl1I","ac":{"ac":1,"ac_afr":1,"ac_afr_xx":1,"ac_afr_xy":0,"ac_ami":0,"ac_ami_xx":0,"ac_ami_xy":0,"ac_amr":0,"ac_amr_xx":0,"ac_amr_xy":0,"ac_asj":0,"ac_asj_xx":0,"ac_asj_xy":0,"ac_eas":0,"ac_eas_xx":0,"ac_eas_xy":0,"ac_fin":0,"ac_fin_xx":0,"ac_fin_xy":0,"ac_mid":0,"ac_mid_xx":0,"ac_mid_xy":0,"ac_nfe":0,"ac_nfe_xx":0,"ac_nfe_xy":0,"ac_oth":0,"ac_oth_xx":0,"ac_oth_xy":0,"ac_sas":0,"ac_sas_xx":0,"ac_sas_xy":0,"ac_xx":1,"ac_xy":0},"af":{"af":6.57384e-6,"af_afr":0.0000241406,"af_afr_xx":0.0000451671,"af_afr_xy":0.0,"af_ami":0.0,"af_ami_xx":0.0,"af_ami_xy":0.0,"af_amr":0.0,"af_amr_xx":0.0,"af_amr_xy":0.0,"af_asj":0.0,"af_asj_xx":0.0,"af_asj_xy":0.0,"af_eas":0.0,"af_eas_xx":0.0,"af_eas_xy":0.0,"af_fin":0.0,"af_fin_xx":0.0,"af_fin_xy":0.0,"af_mid":0.0,"af_mid_xx":0.0,"af_mid_xy":0.0,"af_nfe":0.0,"af_nfe_xx":0.0,"af_nfe_xy":0.0,"af_oth":0.0,"af_oth_xx":0.0,"af_oth_xy":0.0,"af_sas":0.0,"af_sas_xx":0.0,"af_sas_xy":0.0,"af_xx":0.0000128495,"af_xy":0.0},"alleles":"T","alt":"T","an":{"an":152118,"an_afr":41424,"an_afr_xx":22140,"an_afr_xy":19284,"an_ami":912,"an_ami_xx":470,"an_ami_xy":442,"an_amr":15264,"an_amr_xx":6782,"an_amr_xy":8482,"an_asj":3470,"an_asj_xx":1868,"an_asj_xy":1602,"an_eas":5176,"an_eas_xx":2274,"an_eas_xy":2902,"an_fin":10598,"an_fin_xx":2570,"an_fin_xy":8028,"an_mid":316,"an_mid_xx":164,"an_mid_xy":152,"an_nfe":68038,"an_nfe_xx":39358,"an_nfe_xy":28680,"an_oth":2094,"an_oth_xx":1034,"an_oth_xy":1060,"an_sas":4826,"an_sas_xx":1164,"an_sas_xy":3662,"an_xx":77824,"an_xy":74294},"as_fs":1.21629,"as_mq":{"as_mq":60.0,"as_mqranksum":-1.552},"as_pab_max":1.0,"as_qd":14.0732,"as_readposranksum":0.561,"as_sor":0.451327,"as_vqslod":4.2841,"chrom":"16","hom":{"hom":0,"hom_afr":0,"hom_afr_xx":0,"hom_afr_xy":0,"hom_ami":0,"hom_ami_xx":0,"hom_ami_xy":0,"hom_amr":0,"hom_amr_xx":0,"hom_amr_xy":0,"hom_asj":0,"hom_asj_xx":0,"hom_asj_xy":0,"hom_eas":0,"hom_eas_xx":0,"hom_eas_xy":0,"hom_fin":0,"hom_fin_xx":0,"hom_fin_xy":0,"hom_mid":0,"hom_mid_xx":0,"hom_mid_xy":0,"hom_nfe":0,"hom_nfe_xx":0,"hom_nfe_xy":0,"hom_oth":0,"hom_oth_xx":0,"hom_oth_xy":0,"hom_sas":0,"hom_sas_xx":0,"hom_sas_xy":0,"hom_xx":0,"hom_xy":0},"inbreedingcoeff":-6.55651e-6,"pos":16016419,"ref":"G","rsid":"rs1465092797","type":"snp"},"hg38":{"end":16016419,"start":16016419},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":{"effect":"intron_variant","feature_id":"NM_004996.3","feature_type":"transcript","gene_id":"ABCC1","genename":"ABCC1","hgvs_c":"c.490-77G>T","putative_impact":"MODIFIER","rank":"4","total":"30","transcript_biotype":"protein_coding"}},"vcf":{"alt":"T","position":"16016419","ref":"G"}}