{"_id":"chr14:g.73685847G>A","_version":1,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"A","anc":"G","annotype":"CodingTranscript","bstatistic":293,"chmm":{"bivflnk":0.0,"enh":0.016,"enhbiv":0.0,"het":0.0,"quies":0.008,"reprpc":0.0,"reprpcwk":0.0,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.795,"txflnk":0.0,"txwk":0.181,"znfrpts":0.0},"chrom":14,"consdetail":"synonymous","consequence":"SYNONYMOUS","consscore":5,"cpg":0.0,"dna":{"helt":-3.13,"mgw":0.27,"prot":2.76,"roll":-0.37},"dst2splice":6,"dst2spltype":"ACCEPTOR","encode":{"exp":108.22,"h3k27ac":4.0,"h3k4me1":1.0,"h3k4me3":5.0,"nucleo":1.7},"exon":"12/12","fitcons":0.701516,"gc":0.4,"gene":{"ccds_id":"CCDS9812.1","cds":{"cdna_pos":1526,"cds_pos":1254,"rel_cdna_pos":0.25,"rel_cds_pos":0.89},"feature_id":"ENST00000324501","gene_id":"ENSG00000080815","genename":"PSEN1","prot":{"domain":"tmhmm","protpos":418,"rel_prot_pos":0.9}},"gerp":{"n":5.96,"rs":1068.1,"rs_pval":4.1232e-139,"s":5.07},"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":151,"min_dist_tss":12986,"mutindex":18,"naa":"L","oaa":"L","phast_cons":{"mammalian":1.0,"primate":0.148,"vertebrate":1.0},"phred":0.528,"phylop":{"mammalian":1.519,"primate":-0.174,"vertebrate":1.971},"pos":73685847,"rawscore":-0.343161,"ref":"G","segway":"GE0","type":"SNV"},"chrom":"14","hg19":{"end":73685847,"start":73685847},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"6090","position":"1538"},"cds":{"length":"1404","position":"1254"},"effect":"synonymous_variant","feature_id":"NM_000021.3","feature_type":"transcript","gene_id":"PSEN1","genename":"PSEN1","hgvs_c":"c.1254G>A","hgvs_p":"p.Leu418Leu","protein":{"length":"467","position":"418"},"putative_impact":"LOW","rank":"12","total":"12","transcript_biotype":"protein_coding"},{"cdna":{"length":"6078","position":"1526"},"cds":{"length":"1392","position":"1242"},"effect":"synonymous_variant","feature_id":"NM_007318.2","feature_type":"transcript","gene_id":"PSEN1","genename":"PSEN1","hgvs_c":"c.1242G>A","hgvs_p":"p.Leu414Leu","protein":{"length":"463","position":"414"},"putative_impact":"LOW","rank":"12","total":"12","transcript_biotype":"protein_coding"},{"effect":"sequence_feature","feature_id":"NM_000021.3","feature_type":"compositionally-biased-region:Poly-Leu","gene_id":"PSEN1","genename":"PSEN1","hgvs_c":"c.1254G>A","putative_impact":"LOW","rank":"12","total":"12","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"A","position":"73685847","ref":"G"}}