{"_id":"chr7:g.55259249A>C","_version":1,"chrom":"7","dbsnp":{"_license":"http://bit.ly/2AqoLOc","alleles":[{"allele":"A","freq":{"1000g":1.0,"dbgap_popfreq":1.0,"gnomad":1.0,"vietnamese":0.995}},{"allele":"C","freq":{"1000g":0.0,"dbgap_popfreq":0.0,"gnomad":0.0,"vietnamese":0.005}},{"allele":"G","freq":{"dbgap_popfreq":0.0}}],"alt":"C","chrom":"7","dbsnp_build":156,"gene":{"geneid":1956,"is_pseudo":false,"name":"epidermal growth factor receptor","rnas":[{"hgvs":"NM_001346897.2:c.2335-163=","protein_product":{"refseq":"NP_001333826.1"},"refseq":"NM_001346897.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001346898.2:c.2470-163=","protein_product":{"refseq":"NP_001333827.1"},"refseq":"NM_001346898.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001346899.2:c.2335-163=","protein_product":{"refseq":"NP_001333828.1"},"refseq":"NM_001346899.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001346900.2:c.2311-163=","protein_product":{"refseq":"NP_001333829.1"},"refseq":"NM_001346900.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001346941.2:c.1669-163=","protein_product":{"refseq":"NP_001333870.1"},"refseq":"NM_001346941.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_005228.5:c.2470-163=","protein_product":{"refseq":"NP_005219.2"},"refseq":"NM_005228.5","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"protein_product":{"refseq":"NP_958439.1"},"refseq":"NM_201282.2","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"NP_958440.1"},"refseq":"NM_201283.2","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"NP_958441.1"},"refseq":"NM_201284.2","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"hgvs":"XM_047419952.1:c.2311-163=","protein_product":{"refseq":"XP_047275908.1"},"refseq":"XM_047419952.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047419953.1:c.2311-163=","protein_product":{"refseq":"XP_047275909.1"},"refseq":"XM_047419953.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]}],"strand":"+","symbol":"EGFR"},"hg19":{"end":55259249,"start":55259249},"ref":"A","rsid":"rs540348232","vartype":"snv"},"gnomad_genome":{"_license":"http://bit.ly/2I1cl1I","ac":{"ac":1,"ac_afr":0,"ac_afr_female":0,"ac_afr_male":0,"ac_amr":0,"ac_amr_female":0,"ac_amr_male":0,"ac_asj":0,"ac_asj_female":0,"ac_asj_male":0,"ac_eas":0,"ac_eas_female":0,"ac_eas_male":0,"ac_female":0,"ac_fin":0,"ac_fin_female":0,"ac_fin_male":0,"ac_male":1,"ac_nfe":1,"ac_nfe_est":0,"ac_nfe_female":0,"ac_nfe_male":1,"ac_nfe_nwe":1,"ac_nfe_onf":0,"ac_nfe_seu":0,"ac_oth":0,"ac_oth_female":0,"ac_oth_male":0},"af":{"af":0.0000318573,"af_afr":0.0,"af_afr_female":0.0,"af_afr_male":0.0,"af_amr":0.0,"af_amr_female":0.0,"af_amr_male":0.0,"af_asj":0.0,"af_asj_female":0.0,"af_asj_male":0.0,"af_eas":0.0,"af_eas_female":0.0,"af_eas_male":0.0,"af_female":0.0,"af_fin":0.0,"af_fin_female":0.0,"af_fin_male":0.0,"af_male":0.0000572279,"af_nfe":0.0000648424,"af_nfe_est":0.0,"af_nfe_female":0.0,"af_nfe_male":0.000116009,"af_nfe_nwe":0.00011636,"af_nfe_onf":0.0,"af_nfe_seu":0.0,"af_oth":0.0,"af_oth_female":0.0,"af_oth_male":0.0},"alleles":"C","alt":"C","an":{"an":31390,"an_afr":8712,"an_afr_female":3678,"an_afr_male":5034,"an_amr":848,"an_amr_female":414,"an_amr_male":434,"an_asj":290,"an_asj_female":80,"an_asj_male":210,"an_eas":1558,"an_eas_female":536,"an_eas_male":1022,"an_female":13916,"an_fin":3474,"an_fin_female":1846,"an_fin_male":1628,"an_male":17474,"an_nfe":15422,"an_nfe_est":4584,"an_nfe_female":6802,"an_nfe_male":8620,"an_nfe_nwe":8594,"an_nfe_onf":2138,"an_nfe_seu":106,"an_oth":1086,"an_oth_female":560,"an_oth_male":526},"baseqranksum":-0.667,"chrom":"7","clippingranksum":0.821,"dp":647709,"fs":0.0,"hom":{"hom":0,"hom_afr":0,"hom_afr_female":0,"hom_afr_male":0,"hom_amr":0,"hom_amr_female":0,"hom_amr_male":0,"hom_asj":0,"hom_asj_female":0,"hom_asj_male":0,"hom_eas":0,"hom_eas_female":0,"hom_eas_male":0,"hom_female":0,"hom_fin":0,"hom_fin_female":0,"hom_fin_male":0,"hom_male":0,"hom_nfe":0,"hom_nfe_est":0,"hom_nfe_female":0,"hom_nfe_male":0,"hom_nfe_nwe":0,"hom_nfe_onf":0,"hom_nfe_seu":0,"hom_oth":0,"hom_oth_female":0,"hom_oth_male":0},"inbreedingcoeff":-0.0001,"mq":{"mq":60.0,"mqranksum":-0.821},"pab_max":1.0,"pos":55259249,"qd":11.48,"readposranksum":0.872,"ref":"A","rf":0.861839,"rsid":"rs540348232","sor":0.693,"type":"snp","vqslod":13.87,"vqsr_culprit":"MQ"},"hg19":{"end":55259249,"start":55259249},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"distance_to_feature":"2607","effect":"upstream_gene_variant","feature_id":"NR_047551.1","feature_type":"transcript","gene_id":"EGFR-AS1","genename":"EGFR-AS1","hgvs_c":"n.-2607T>G","putative_impact":"MODIFIER","transcript_biotype":"pseudogene"},{"effect":"intron_variant","feature_id":"NM_005228.3","feature_type":"transcript","gene_id":"EGFR","genename":"EGFR","hgvs_c":"c.2470-163A>C","putative_impact":"MODIFIER","rank":"20","total":"27","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"C","position":"55259249","ref":"A"}}