{"_id":"chr12:g.103260203G>T","_version":1,"chrom":"12","dbsnp":{"_license":"http://bit.ly/2AqoLOc","alleles":[{"allele":"G","freq":{"1000g":1.0,"dbgap_popfreq":1.0,"tommo":1.0}},{"allele":"A","freq":{"tommo":0.0}},{"allele":"T","freq":{"1000g":0.0,"dbgap_popfreq":0.0}}],"alt":"T","chrom":"12","dbsnp_build":156,"gene":[{"geneid":5053,"is_pseudo":false,"name":"phenylalanine hydroxylase","rnas":[{"hgvs":"NM_000277.3:c.509+171=","protein_product":{"refseq":"NP_000268.1"},"refseq":"NM_000277.3","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001354304.2:c.509+171=","protein_product":{"refseq":"NP_001341233.1"},"refseq":"NM_001354304.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_017019370.2:c.509+171=","protein_product":{"refseq":"XP_016874859.1"},"refseq":"XM_017019370.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]}],"strand":"-","symbol":"PAH"},{"geneid":124902999,"is_pseudo":false,"name":"uncharacterized LOC124902999","rnas":[{"refseq":"XR_007063428.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]}],"strand":"+","symbol":"LOC124902999"}],"hg19":{"end":103260203,"start":103260203},"ref":"G","rsid":"rs562125833","vartype":"snv"},"hg19":{"end":103260203,"start":103260203},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":{"effect":"intron_variant","feature_id":"NM_000277.1","feature_type":"transcript","gene_id":"PAH","genename":"PAH","hgvs_c":"c.509+171C>A","putative_impact":"MODIFIER","rank":"5","total":"12","transcript_biotype":"protein_coding"}},"vcf":{"alt":"T","position":"103260203","ref":"G"}}