{"_id":"chr3:g.193336579T>G","_version":1,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"G","anc":"T","annotype":"NonCodingTranscript","bstatistic":450,"chmm":{"bivflnk":0.0,"enh":0.008,"enhbiv":0.0,"het":0.0,"quies":0.031,"reprpc":0.0,"reprpcwk":0.0,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.52,"txflnk":0.0,"txwk":0.441,"znfrpts":0.0},"chrom":3,"consdetail":"non_coding_exon,nc","consequence":"NONCODING_CHANGE","consscore":5,"cpg":0.03,"dna":{"helt":-0.73,"mgw":-0.24,"prot":3.82,"roll":-0.62},"encode":{"exp":0.81,"h3k27ac":4.6,"h3k4me1":2.76,"h3k4me3":7.48,"nucleo":1.0},"exon":"3/3","fitcons":0.099652,"gc":0.33,"gene":{"cds":{"cdna_pos":311,"rel_cdna_pos":0.63},"feature_id":"ENST00000433105","gene_id":"ENSG00000224855","genename":"OPA1-AS1"},"gerp":{"n":4.84,"rs":106.3,"rs_pval":9.01382e-7,"s":2.41},"isderived":"TRUE","isknownvariant":"FALSE","istv":"TRUE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":131,"min_dist_tss":38,"mutindex":-43,"phast_cons":{"mammalian":0.013,"primate":0.006,"vertebrate":0.02},"phred":2.799,"phylop":{"mammalian":0.408,"primate":-0.295,"vertebrate":0.785},"pos":193336579,"rawscore":0.0219,"ref":"T","segway":"GE0","type":"SNV"},"chrom":"3","hg19":{"end":193336579,"start":193336579},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"effect":"intron_variant","feature_id":"NM_130837.2","feature_type":"transcript","gene_id":"OPA1","genename":"OPA1","hgvs_c":"c.611-79T>G","putative_impact":"MODIFIER","rank":"5","total":"30","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_015560.2","feature_type":"transcript","gene_id":"OPA1","genename":"OPA1","hgvs_c":"c.557-79T>G","putative_impact":"MODIFIER","rank":"4","total":"28","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_130831.2","feature_type":"transcript","gene_id":"OPA1","genename":"OPA1","hgvs_c":"c.449-79T>G","putative_impact":"MODIFIER","rank":"3","total":"27","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_130832.2","feature_type":"transcript","gene_id":"OPA1","genename":"OPA1","hgvs_c":"c.503-79T>G","putative_impact":"MODIFIER","rank":"4","total":"28","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_130833.2","feature_type":"transcript","gene_id":"OPA1","genename":"OPA1","hgvs_c":"c.449-79T>G","putative_impact":"MODIFIER","rank":"3","total":"28","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_130834.2","feature_type":"transcript","gene_id":"OPA1","genename":"OPA1","hgvs_c":"c.611-79T>G","putative_impact":"MODIFIER","rank":"5","total":"29","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_130835.2","feature_type":"transcript","gene_id":"OPA1","genename":"OPA1","hgvs_c":"c.503-79T>G","putative_impact":"MODIFIER","rank":"4","total":"29","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_130836.2","feature_type":"transcript","gene_id":"OPA1","genename":"OPA1","hgvs_c":"c.557-79T>G","putative_impact":"MODIFIER","rank":"4","total":"29","transcript_biotype":"protein_coding"},{"effect":"non_coding_transcript_exon_variant","feature_id":"NR_046634.1","feature_type":"transcript","gene_id":"OPA1-AS1","genename":"OPA1-AS1","hgvs_c":"n.311A>C","putative_impact":"MODIFIER","rank":"3","total":"3","transcript_biotype":"pseudogene"}]},"vcf":{"alt":"G","position":"193336579","ref":"T"}}