{"_id":"chr3:g.165547630G>C","_version":1,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"C","anc":"G","annotype":"CodingTranscript","bstatistic":747,"chmm":{"bivflnk":0.0,"enh":0.0,"enhbiv":0.0,"het":0.016,"quies":0.937,"reprpc":0.0,"reprpcwk":0.0,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.016,"txflnk":0.0,"txwk":0.031,"znfrpts":0.0},"chrom":3,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.01,"dna":{"helt":-0.81,"mgw":0.38,"prot":-1.6,"roll":6.17},"encode":{"exp":14.9,"h3k27ac":1.28,"h3k4me1":3.0,"h3k4me3":3.0,"nucleo":1.0},"exon":"2/4","fitcons":0.577621,"gc":0.4,"gene":{"ccds_id":"CCDS3198.1","cds":{"cdna_pos":1359,"cds_pos":1192,"rel_cdna_pos":0.55,"rel_cds_pos":0.66},"feature_id":"ENST00000264381","gene_id":"ENSG00000114200","genename":"BCHE","prot":{"domain":"ndomain","protpos":398,"rel_prot_pos":0.66}},"gerp":{"n":5.55,"rs":4163.2,"rs_pval":0,"s":2.66},"grantham":32,"isderived":"TRUE","isknownvariant":"FALSE","istv":"TRUE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":51568,"min_dist_tss":7579,"mutindex":20,"naa":"V","oaa":"L","phast_cons":{"mammalian":0.969,"primate":0.456,"vertebrate":0.004},"phred":0.002,"phylop":{"mammalian":1.352,"primate":-0.144,"vertebrate":0.117},"polyphen":{"cat":"benign","val":0.011},"pos":165547630,"rawscore":-1.866892,"ref":"G","segway":"D","sift":{"cat":"tolerated","val":1},"type":"SNV"},"chrom":"3","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"V","codon_degeneracy":0,"codonpos":1,"pos":398,"ref":"L","refcodon":"CTT"},"alphamissense":{"pred":"B","rankscore":0.08176,"score":0.0808},"alt":"C","altai_neandertal":["G","G"],"ancestral_allele":"G","appris":"principal1","bayesdel":{"add_af":{"pred":"T","rankscore":0.20012,"score":-0.205527},"no_af":{"pred":"T","rankscore":0.18987,"score":-0.533002}},"bstatistic":{"converted_rankscore":0.22284,"score":910.0},"chagyrskaya_neandertal":["G","G"],"chrom":"3","clinpred":{"pred":"T","rankscore":0.05237,"score":0.0485186299128848},"dann":{"rankscore":0.00082,"score":0.08993867447164607},"denisova":["G","G"],"deogen2":{"pred":"T","rankscore":0.57069,"score":0.210245},"eigen":{"phred_coding":0.4646238,"raw_coding":-0.945915192738783,"raw_coding_rankscore":0.09785},"eigen-pc":{"phred_coding":0.7512877,"raw_coding":-0.804613701940597,"raw_coding_rankscore":0.14384},"ensembl":{"geneid":"ENSG00000114200","proteinid":"ENSP00000264381","transcriptid":"ENST00000264381"},"esm1b":{"pred":"T","rankscore":0.04316,"score":-2.255},"eve":{"class10_pred":"U","class20_pred":"B","class25_pred":"B","class30_pred":"B","class40_pred":"B","class50_pred":"B","class60_pred":"B","class70_pred":"B","class75_pred":"B","class80_pred":"B","class90_pred":"B","rankscore":0.09268,"score":0.11010982813919397},"fathmm":{"converted_rankscore":0.67543,"pred":"T","score":-0.28},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"N","coding_rankscore":0.10753,"coding_score":0.04982},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.31604,"coding_score":0.188773},"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":2.41304654763331e-6},"gerp":{"91_mammals":{"rankscore":0.43865,"score":2.35}},"gerp++":{"nr":5.55,"rs":2.66,"rs_rankscore":0.30672},"gmvp":{"rankscore":0.39201,"score":0.39286356901201064},"hg18":{"end":167030324,"start":167030324},"hg19":{"end":165547630,"start":165547630},"hg38":{"end":165829842,"start":165829842},"hgvsc":"c.1192C>G","hgvsp":["p.L398V","p.Leu398Val"],"interpro":{"domain":"Carboxylesterase, type B"},"list-s2":{"pred":"T","rankscore":0.24523,"score":0.630337},"lrt":{"converted_rankscore":0.20302,"omega":0.542866,"pred":"N","score":0.091908},"m-cap":{"pred":"T","rankscore":0.28062,"score":0.01095},"metalr":{"pred":"T","rankscore":0.37844,"score":0.1026},"metarnn":{"pred":"T","rankscore":0.10559,"score":0.07153568},"metasvm":{"pred":"T","rankscore":0.30563,"score":-0.9977},"mpc":{"rankscore":0.0138,"score":0.0145694318453},"mutationassessor":{"pred":"L","rankscore":0.20963,"score":0.83},"mutationtaster":{"aae":"L398V","converted_rankscore":0.08975,"model":["simple_aae","without_aae"],"pred":["N","N"],"score":[1.0,1.0]},"mutformer":{"rankscore":0.95774,"score":0.98230225},"mutpred":{"aa_change":"L398V","accession":"P06276","pred":{"mechanism":"Loss of helix","p_val":0.0626},"rankscore":0.50302,"score":0.445},"mvp":{"rankscore":0.86483,"score":0.866132003876},"phactboost":{"rankscore":0.26476,"score":0.013888616318104},"phastcons":{"100way_vertebrate":{"rankscore":0.18352,"score":0.01},"17way_primate":{"rankscore":0.35099,"score":0.73},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.20967,"score":0.419},"17way_primate":{"rankscore":0.14837,"score":-0.113},"470way_mammalian":{"rankscore":0.38171,"score":3.408}},"polyphen2":{"hdiv":{"pred":"B","rankscore":0.15535,"score":0.01},"hvar":{"pred":"B","rankscore":0.2154,"score":0.029}},"primateai":{"pred":"T","rankscore":0.18728,"score":0.355493396521},"provean":{"converted_rankscore":0.01467,"pred":"N","score":0.97},"ref":"G","reliability_index":10,"revel":{"rankscore":0.13987,"score":0.05},"sift":{"converted_rankscore":0.00964,"pred":"T","score":1.0},"sift4g":{"converted_rankscore":0.01155,"pred":"T","score":1.0},"siphy_29way":{"logodds_rankscore":0.07938,"logodds_score":3.7078,"pi":{"a":0.1535,"c":0.124,"g":0.58,"t":0.1425}},"tsl":1,"uniprot":{"acc":"P06276","entry":"CHLE_HUMAN"},"varity":{"er":{"rankscore":0.20219,"score":0.087090224},"er_loo":{"rankscore":0.20219,"score":0.087090224},"r":{"rankscore":0.38417,"score":0.17553256},"r_loo":{"rankscore":0.38416,"score":0.17553256}},"vep_canonical":"YES","vest4":{"rankscore":0.0949,"score":0.109},"vindijia_neandertal":["G","G"]},"hg19":{"end":165547630,"start":165547630},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"2455","position":"1359"},"cds":{"length":"1809","position":"1192"},"effect":"missense_variant","feature_id":"NM_000055.3","feature_type":"transcript","gene_id":"BCHE","genename":"BCHE","hgvs_c":"c.1192C>G","hgvs_p":"p.Leu398Val","protein":{"length":"602","position":"398"},"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+7472C>G","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.1359C>G","putative_impact":"MODIFIER","rank":"2","total":"5","transcript_biotype":"pseudogene"}]},"vcf":{"alt":"C","position":"165547630","ref":"G"}}