{"_id":"chr3:g.165829830T>G","_version":1,"chrom":"3","clingen":{"caid":"CA355111168"},"dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"P","codon_degeneracy":0,"codonpos":1,"pos":402,"ref":"T","refcodon":"ACA"},"alphamissense":{"pred":"B","rankscore":0.52679,"score":0.2962},"alt":"G","altai_neandertal":["T","T"],"ancestral_allele":"T","appris":"principal1","bayesdel":{"add_af":{"pred":"D","rankscore":0.68202,"score":0.138706},"no_af":{"pred":"D","rankscore":0.678,"score":-0.0385354}},"bstatistic":{"converted_rankscore":0.22284,"score":910.0},"cadd":{"phred":20.8,"raw_rankscore":0.38935,"raw_score":2.930836},"chagyrskaya_neandertal":["T","T"],"chrom":"3","clinpred":{"pred":"D","rankscore":0.64177,"score":0.954076051712036},"dann":{"rankscore":0.46704,"score":0.9881669031357843},"denisova":["T","T"],"deogen2":{"pred":"D","rankscore":0.87015,"score":0.596711},"eigen":{"phred_coding":1.916718,"raw_coding":-0.185772295595761,"raw_coding_rankscore":0.33726},"eigen-pc":{"phred_coding":1.754169,"raw_coding":-0.213296691282354,"raw_coding_rankscore":0.31057},"ensembl":{"geneid":"ENSG00000114200","proteinid":"ENSP00000264381","transcriptid":"ENST00000264381"},"esm1b":{"pred":"D","rankscore":0.86481,"score":-12.343},"eve":{"class10_pred":"U","class20_pred":"U","class25_pred":"U","class30_pred":"U","class40_pred":"U","class50_pred":"U","class60_pred":"U","class70_pred":"U","class75_pred":"U","class80_pred":"U","class90_pred":"U","rankscore":0.62468,"score":0.5565905402484264},"fathmm":{"converted_rankscore":0.94975,"pred":"D","score":-3.59},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"D","coding_rankscore":0.68111,"coding_score":0.96225},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.73305,"coding_score":0.809577},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.26702,"score":0.573888},"h1-hesc":{"confidence_value":0,"rankscore":0.43123,"score":0.618467},"huvec":{"confidence_value":0,"rankscore":0.47308,"score":0.620846},"integrated":{"confidence_value":0,"rankscore":0.25195,"score":0.553676}},"gencode_basic":"Y","genename":"BCHE","genocanyon":{"rankscore":0.01202,"score":2.07494696216091e-6},"gerp":{"91_mammals":{"rankscore":0.16447,"score":-0.857}},"gerp++":{"nr":5.55,"rs":0.774,"rs_rankscore":0.17665},"gmvp":{"rankscore":0.74853,"score":0.7490747035378587},"hg18":{"end":167030312,"start":167030312},"hg19":{"end":165547618,"start":165547618},"hg38":{"end":165829830,"start":165829830},"hgvsc":"c.1204A>C","hgvsp":["p.T402P","p.Thr402Pro"],"interpro":{"domain":"Carboxylesterase, type B"},"list-s2":{"pred":"D","rankscore":0.64041,"score":0.89721},"lrt":{"converted_rankscore":0.20539,"omega":0.555917,"pred":"N","score":0.087339},"m-cap":{"pred":"D","rankscore":0.72156,"score":0.074899},"metalr":{"pred":"D","rankscore":0.92325,"score":0.7742},"metarnn":{"pred":"D","rankscore":0.63509,"score":0.537087},"metasvm":{"pred":"D","rankscore":0.88059,"score":0.332},"mpc":{"rankscore":0.07761,"score":0.0693334402013},"mutationassessor":{"pred":"L","rankscore":0.25572,"score":1.03},"mutationtaster":{"aae":"T402P","converted_rankscore":0.51308,"model":["simple_aae","without_aae"],"pred":["D","D"],"score":[0.965785,0.999921]},"mutformer":{"rankscore":0.99448,"score":0.99951363},"mutpred":{"aa_change":"T402P","accession":"P06276","pred":{"mechanism":"Gain of glycosylation at Y401","p_val":0.0904},"rankscore":0.71497,"score":0.587},"mvp":{"rankscore":0.99904,"score":0.99905719173},"phactboost":{"rankscore":0.83274,"score":0.970129293853},"phastcons":{"100way_vertebrate":{"rankscore":0.3567,"score":0.983},"17way_primate":{"rankscore":0.85391,"score":0.998},"470way_mammalian":{"rankscore":0.08366,"score":0.0}},"phylop":{"100way_vertebrate":{"rankscore":0.44104,"score":2.394},"17way_primate":{"rankscore":0.62972,"score":0.665},"470way_mammalian":{"rankscore":0.11066,"score":-0.188}},"polyphen2":{"hdiv":{"pred":"P","rankscore":0.36479,"score":0.467},"hvar":{"pred":"P","rankscore":0.51231,"score":0.615}},"primateai":{"pred":"T","rankscore":0.01326,"score":0.220273852348},"provean":{"converted_rankscore":0.78135,"pred":"D","score":-4.5},"ref":"T","reliability_index":10,"revel":{"rankscore":0.79461,"score":0.518},"sift":{"converted_rankscore":0.7849,"pred":"D","score":0.001},"sift4g":{"converted_rankscore":0.70582,"pred":"D","score":0.006},"siphy_29way":{"logodds_rankscore":0.29649,"logodds_score":8.0353,"pi":{"a":0.0,"c":0.4099,"g":0.0,"t":0.5901}},"tsl":1,"uniprot":{"acc":"P06276","entry":"CHLE_HUMAN"},"varity":{"er":{"rankscore":0.93912,"score":0.8849876},"er_loo":{"rankscore":0.93913,"score":0.8849876},"r":{"rankscore":0.89734,"score":0.88081867},"r_loo":{"rankscore":0.89735,"score":0.88081867}},"vep_canonical":"YES","vest4":{"rankscore":0.33578,"score":0.297},"vindijia_neandertal":["T","T"]},"hg38":{"end":165829830,"start":165829830},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"2455","position":"1371"},"cds":{"length":"1809","position":"1204"},"effect":"missense_variant","feature_id":"NM_000055.3","feature_type":"transcript","gene_id":"BCHE","genename":"BCHE","hgvs_c":"c.1204A>C","hgvs_p":"p.Thr402Pro","protein":{"length":"602","position":"402"},"putative_impact":"MODERATE","rank":"2","total":"4","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NR_137635.1","feature_type":"transcript","gene_id":"BCHE","genename":"BCHE","hgvs_c":"n.159+7484A>C","putative_impact":"MODIFIER","rank":"1","total":"2","transcript_biotype":"pseudogene"},{"effect":"non_coding_transcript_exon_variant","feature_id":"NR_137636.1","feature_type":"transcript","gene_id":"BCHE","genename":"BCHE","hgvs_c":"n.1371A>C","putative_impact":"MODIFIER","rank":"2","total":"5","transcript_biotype":"pseudogene"}]},"vcf":{"alt":"G","position":"165829830","ref":"T"}}