{"_id":"chr11:g.17387335C>T","_version":1,"chrom":"11","clingen":{"caid":"CA379770974"},"dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"T","codon_degeneracy":[0,0],"codonpos":[1,1],"pos":[253,166],"ref":"A","refcodon":["GCC","GCC"]},"alphamissense":{"pred":["B","B"],"rankscore":0.49903,"score":[0.1914,0.2645]},"alt":"T","altai_neandertal":["C","C"],"ancestral_allele":"C","appris":"principal1","bayesdel":{"add_af":{"pred":"T","rankscore":0.57114,"score":0.0405105},"no_af":{"pred":"T","rankscore":0.56561,"score":-0.179586}},"bstatistic":{"converted_rankscore":0.68897,"score":590.0},"cadd":{"phred":23.0,"raw_rankscore":0.50884,"raw_score":3.601934},"chagyrskaya_neandertal":["C","C"],"chrom":"11","clinpred":{"pred":"D","rankscore":0.34412,"score":0.548270344734192},"dann":{"rankscore":0.96436,"score":0.9989007734462048},"denisova":["C","C"],"eigen":{"phred_coding":3.45013,"raw_coding":0.23251195617716,"raw_coding_rankscore":0.52779},"eigen-pc":{"phred_coding":3.994137,"raw_coding":0.345659173816011,"raw_coding_rankscore":0.58246},"ensembl":{"geneid":["ENSG00000187486","ENSG00000187486"],"proteinid":["ENSP00000345708","ENSP00000434755"],"transcriptid":["ENST00000339994","ENST00000528731"]},"fathmm":{"converted_rankscore":0.91134,"pred":["D","D"],"score":[-2.81,-2.81]},"fathmm-mkl":{"coding_group":"AEFBCI","coding_pred":"D","coding_rankscore":0.42492,"coding_score":0.8337},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.63234,"coding_score":0.662493},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.40923,"score":0.588066},"h1-hesc":{"confidence_value":0,"rankscore":0.80598,"score":0.723109},"huvec":{"confidence_value":0,"rankscore":0.41899,"score":0.613276},"integrated":{"confidence_value":0,"rankscore":0.57023,"score":0.695654}},"gencode_basic":["Y","Y"],"genename":["KCNJ11","KCNJ11"],"genocanyon":{"rankscore":0.74766,"score":0.999999890666753},"gerp":{"91_mammals":{"rankscore":0.83814,"score":4.47}},"gerp++":{"nr":5.43,"rs":5.43,"rs_rankscore":0.79006},"gmvp":{"rankscore":0.49885,"score":0.49964090650533477},"hg18":{"end":17365458,"start":17365458},"hg19":{"end":17408882,"start":17408882},"hg38":{"end":17387335,"start":17387335},"hgvsc":["c.757G>A","c.496G>A"],"hgvsp":["p.A166T","p.Ala253Thr","p.Ala166Thr","p.A253T"],"list-s2":{"pred":"D","rankscore":0.75104,"score":0.933507},"lrt":{"converted_rankscore":0.8433,"omega":0.056321,"pred":"D","score":1e-6},"m-cap":{"pred":"D","rankscore":0.6375,"score":0.049298},"metalr":{"pred":"D","rankscore":0.85254,"score":0.5884},"metarnn":{"pred":["T","T"],"rankscore":0.6095,"score":[0.49026117,0.49026117]},"metasvm":{"pred":"T","rankscore":0.82142,"score":-0.0055},"mpc":{"rankscore":0.70016,"score":0.886425794277},"mutationtaster":{"aae":["A253T","A166T"],"converted_rankscore":0.43291,"model":["simple_aae","simple_aae"],"pred":["D","D"],"score":[0.993994,0.99658]},"mutformer":{"rankscore":0.9857,"score":0.9979303},"mutpred":{"aa_change":"A253T","accession":"ENST00000339994","pred":{"mechanism":"Loss of catalytic residue at A253","p_val":0.1279},"rankscore":0.71497,"score":0.587},"mvp":{"rankscore":0.99461,"score":[0.994667301561,0.994667301561]},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.54974,"score":0.972},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.54846,"score":3.746},"17way_primate":{"rankscore":0.4025,"score":0.599},"470way_mammalian":{"rankscore":0.52118,"score":5.978}},"primateai":{"pred":"T","rankscore":0.50774,"score":0.584888219833},"provean":{"converted_rankscore":0.1721,"pred":["N","N"],"score":[-0.4,-0.57]},"ref":"C","reliability_index":10,"revel":{"rankscore":0.73662,"score":[0.43,0.43]},"sift":{"converted_rankscore":0.13175,"pred":["T","T"],"score":[0.414,0.329]},"sift4g":{"converted_rankscore":0.01155,"pred":["T","T"],"score":[1.0,1.0]},"siphy_29way":{"logodds_rankscore":0.54675,"logodds_score":12.3883,"pi":{"a":0.2839,"c":0.7161,"g":0.0,"t":0.0}},"tsl":1,"vep_canonical":"YES","vest4":{"rankscore":0.35938,"score":[0.313,0.319]},"vindijia_neandertal":["C","C"]},"hg38":{"end":17387335,"start":17387335},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"3411","position":"1325"},"cds":{"length":"1173","position":"757"},"effect":"missense_variant","feature_id":"NM_000525.3","feature_type":"transcript","gene_id":"KCNJ11","genename":"KCNJ11","hgvs_c":"c.757G>A","hgvs_p":"p.Ala253Thr","protein":{"length":"390","position":"253"},"putative_impact":"MODERATE","rank":"1","total":"1","transcript_biotype":"protein_coding"},{"cdna":{"length":"2756","position":"670"},"cds":{"length":"912","position":"496"},"effect":"missense_variant","feature_id":"NM_001166290.1","feature_type":"transcript","gene_id":"KCNJ11","genename":"KCNJ11","hgvs_c":"c.496G>A","hgvs_p":"p.Ala166Thr","protein":{"length":"303","position":"166"},"putative_impact":"MODERATE","rank":"2","total":"2","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"T","position":"17387335","ref":"C"}}