{"_id":"chr3:g.165547659C>T","_version":1,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"T","anc":"C","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":0.0,"dna":{"helt":2.47,"mgw":0.01,"prot":-3.49,"roll":0.08},"encode":{"exp":4.97,"h3k27ac":2.0,"h3k4me1":3.0,"h3k4me3":3.0,"nucleo":0.5},"exon":"2/4","fitcons":0.577621,"gc":0.35,"gene":{"ccds_id":"CCDS3198.1","cds":{"cdna_pos":1330,"cds_pos":1163,"rel_cdna_pos":0.54,"rel_cds_pos":0.64},"feature_id":"ENST00000264381","gene_id":"ENSG00000114200","genename":"BCHE","prot":{"domain":"ndomain","protpos":388,"rel_prot_pos":0.64}},"gerp":{"n":5.55,"rs":4163.2,"rs_pval":0,"s":4.68},"grantham":98,"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":0.5,"35bp":1},"min_dist_tse":51597,"min_dist_tss":7550,"mutindex":40,"naa":"E","oaa":"G","phast_cons":{"mammalian":0.913,"primate":0.621,"vertebrate":0.99},"phred":11.29,"phylop":{"mammalian":1.34,"primate":0.651,"vertebrate":1.541},"polyphen":{"cat":"benign","val":0.013},"pos":165547659,"rawscore":1.113784,"ref":"C","segway":"D","sift":{"cat":"tolerated","val":0.56},"type":"SNV"},"chrom":"3","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"E","codon_degeneracy":0,"codonpos":2,"pos":388,"ref":"G","refcodon":"GGA"},"alfa":{"african":{"ac":0,"af":0.0,"an":2898},"african_american":{"ac":0,"af":0.0,"an":2784},"african_others":{"ac":0,"af":0.0,"an":114},"asian":{"ac":0,"af":0.0,"an":112},"east_asian":{"ac":0,"af":0.0,"an":86},"european":{"ac":3,"af":0.00021198417184850198,"an":14152},"latin_american_1":{"ac":0,"af":0.0,"an":146},"latin_american_2":{"ac":0,"af":0.0,"an":610},"other":{"ac":0,"af":0.0,"an":504},"other_asian":{"ac":0,"af":0.0,"an":26},"south_asian":{"ac":0,"af":0.0,"an":98},"total":{"ac":3,"af":0.00016198704103671707,"an":18520}},"alphamissense":{"pred":"B","rankscore":0.04238,"score":0.072},"alt":"T","ancestral_allele":"C","appris":"principal1","bayesdel":{"add_af":{"pred":"T","rankscore":0.34684,"score":-0.110508},"no_af":{"pred":"T","rankscore":0.3379,"score":-0.396514}},"bstatistic":{"converted_rankscore":0.22284,"score":910.0},"chrom":"3","clinpred":{"pred":"T","rankscore":0.19207,"score":0.179557287990633},"dann":{"rankscore":0.17325,"score":0.8757441947732745},"deogen2":{"pred":"T","rankscore":0.53849,"score":0.185497},"eigen":{"phred_coding":1.514123,"raw_coding":-0.34173610210488,"raw_coding_rankscore":0.27577},"eigen-pc":{"phred_coding":1.887499,"raw_coding":-0.158970040042313,"raw_coding_rankscore":0.33065},"ensembl":{"geneid":"ENSG00000114200","proteinid":"ENSP00000264381","transcriptid":"ENST00000264381"},"esm1b":{"pred":"T","rankscore":0.09054,"score":-2.891},"eve":{"class10_pred":"B","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":0.03721,"score":0.07810043089686036},"fathmm":{"converted_rankscore":0.66834,"pred":"T","score":-0.24},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"D","coding_rankscore":0.28725,"coding_score":0.50704},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.4551,"coding_score":0.367769},"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":0.04366,"score":0.0000613362431463655},"gerp":{"91_mammals":{"rankscore":0.43732,"score":2.34}},"gerp++":{"nr":5.55,"rs":4.68,"rs_rankscore":0.58319},"gmvp":{"rankscore":0.56508,"score":0.5658087303015336},"hg18":{"end":167030353,"start":167030353},"hg19":{"end":165547659,"start":165547659},"hg38":{"end":165829871,"start":165829871},"hgvsc":"c.1163G>A","hgvsp":["p.Gly388Glu","p.G388E"],"interpro":{"domain":"Carboxylesterase, type B"},"list-s2":{"pred":"T","rankscore":0.4442,"score":0.79912},"lrt":{"converted_rankscore":0.12563,"omega":0.78582,"pred":"N","score":0.446408},"m-cap":{"pred":"T","rankscore":0.14045,"score":0.00546},"metalr":{"pred":"T","rankscore":0.47237,"score":0.1472},"metarnn":{"pred":"T","rankscore":0.25827,"score":0.13573048},"metasvm":{"pred":"T","rankscore":0.34445,"score":-0.9824},"mpc":{"rankscore":0.0142,"score":0.0149161566634},"mutationassessor":{"pred":"N","rankscore":0.096,"score":0.225},"mutationtaster":{"aae":"G388E","converted_rankscore":0.81001,"model":["without_aae","simple_aae"],"pred":["D","N"],"score":[1.0,0.773723]},"mutformer":{"rankscore":0.96284,"score":0.9866913},"mutpred":{"aa_change":"G388E","accession":"P06276","pred":{"mechanism":"Gain of solvent accessibility","p_val":0.0596},"rankscore":0.59924,"score":0.505},"mvp":{"rankscore":0.81501,"score":0.816748464161},"phactboost":{"rankscore":0.389,"score":0.0610836343009627},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.44643,"score":0.911},"470way_mammalian":{"rankscore":0.08366,"score":0.0}},"phylop":{"100way_vertebrate":{"rankscore":0.4067,"score":2.024},"17way_primate":{"rankscore":0.4025,"score":0.599},"470way_mammalian":{"rankscore":0.18035,"score":0.404}},"polyphen2":{"hdiv":{"pred":"B","rankscore":0.02946,"score":0.0},"hvar":{"pred":"B","rankscore":0.087,"score":0.003}},"primateai":{"pred":"T","rankscore":0.06686,"score":0.274128735065},"provean":{"converted_rankscore":0.01332,"pred":"N","score":1.04},"ref":"C","reliability_index":10,"revel":{"rankscore":0.31079,"score":0.11},"rsid":"rs1383286555","sift":{"converted_rankscore":0.20912,"pred":"T","score":0.193},"sift4g":{"converted_rankscore":0.01155,"pred":"T","score":1.0},"siphy_29way":{"logodds_rankscore":0.34515,"logodds_score":8.8779,"pi":{"a":0.0,"c":0.7672,"g":0.0,"t":0.2328}},"tsl":1,"uniprot":{"acc":"P06276","entry":"CHLE_HUMAN"},"varity":{"er":{"rankscore":0.19735,"score":0.08546734},"er_loo":{"rankscore":0.19735,"score":0.08546734},"r":{"rankscore":0.26192,"score":0.110824406},"r_loo":{"rankscore":0.26192,"score":0.110824406}},"vep_canonical":"YES","vest4":{"rankscore":0.04668,"score":0.073}},"dbsnp":{"_license":"http://bit.ly/2AqoLOc","alleles":[{"allele":"C","freq":{"dbgap_popfreq":1.0,"estonian":0.999,"gnomad":1.0,"topmed":1.0}},{"allele":"A","freq":{"dbgap_popfreq":0.0,"gnomad":0.0,"topmed":0.0}},{"allele":"T","freq":{"dbgap_popfreq":0.0,"estonian":0.001}}],"alt":"T","chrom":"3","dbsnp_build":156,"gene":{"geneid":590,"is_pseudo":false,"name":"butyrylcholinesterase","rnas":[{"codon_aligned_transcript_change":{"deleted_sequence":"GGA","inserted_sequence":"GGA","position":1279,"seq_id":"NM_000055.4"},"hgvs":"NM_000055.4:c.1163=","protein":{"variant":{"spdi":{"deleted_sequence":"G","inserted_sequence":"G","position":387,"seq_id":"NP_000046.1"}}},"protein_product":{"refseq":"NP_000046.1"},"refseq":"NM_000055.4","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"refseq":"NR_137635.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"G","inserted_sequence":"G","position":1280,"seq_id":"NR_137636.2"},"hgvs":"NR_137636.2:n.1281=","refseq":"NR_137636.2","so":[{"accession":"SO:0001619","name":"non_coding_transcript_variant"}]}],"strand":"-","symbol":"BCHE"},"hg19":{"end":165547659,"start":165547659},"ref":"C","rsid":"rs1383286555","vartype":"snv"},"gnomad_genome":{"_license":"http://bit.ly/2I1cl1I","ac":{"ac":3,"ac_afr":0,"ac_afr_female":0,"ac_afr_male":0,"ac_amr":0,"ac_amr_female":0,"ac_amr_male":0,"ac_asj":0,"ac_asj_female":0,"ac_asj_male":0,"ac_eas":0,"ac_eas_female":0,"ac_eas_male":0,"ac_female":2,"ac_fin":0,"ac_fin_female":0,"ac_fin_male":0,"ac_male":1,"ac_nfe":3,"ac_nfe_est":3,"ac_nfe_female":2,"ac_nfe_male":1,"ac_nfe_nwe":0,"ac_nfe_onf":0,"ac_nfe_seu":0,"ac_oth":0,"ac_oth_female":0,"ac_oth_male":0},"af":{"af":0.000095761,"af_afr":0.0,"af_afr_female":0.0,"af_afr_male":0.0,"af_amr":0.0,"af_amr_female":0.0,"af_amr_male":0.0,"af_asj":0.0,"af_asj_female":0.0,"af_asj_male":0.0,"af_eas":0.0,"af_eas_female":0.0,"af_eas_male":0.0,"af_female":0.000143885,"af_fin":0.0,"af_fin_female":0.0,"af_fin_male":0.0,"af_male":0.0000573789,"af_nfe":0.00019483,"af_nfe_est":0.00065703,"af_nfe_female":0.000294118,"af_nfe_male":0.000116306,"af_nfe_nwe":0.0,"af_nfe_onf":0.0,"af_nfe_seu":0.0,"af_oth":0.0,"af_oth_female":0.0,"af_oth_male":0.0},"alleles":"T","alt":"T","an":{"an":31328,"an_afr":8688,"an_afr_female":3666,"an_afr_male":5022,"an_amr":844,"an_amr_female":414,"an_amr_male":430,"an_asj":290,"an_asj_female":80,"an_asj_male":210,"an_eas":1560,"an_eas_female":538,"an_eas_male":1022,"an_female":13900,"an_fin":3462,"an_fin_female":1840,"an_fin_male":1622,"an_male":17428,"an_nfe":15398,"an_nfe_est":4566,"an_nfe_female":6800,"an_nfe_male":8598,"an_nfe_nwe":8590,"an_nfe_onf":2136,"an_nfe_seu":106,"an_oth":1086,"an_oth_female":562,"an_oth_male":524},"baseqranksum":-2.629,"chrom":"3","clippingranksum":-1.285,"dp":618445,"fs":0.896,"hom":{"hom":0,"hom_afr":0,"hom_afr_female":0,"hom_afr_male":0,"hom_amr":0,"hom_amr_female":0,"hom_amr_male":0,"hom_asj":0,"hom_asj_female":0,"hom_asj_male":0,"hom_eas":0,"hom_eas_female":0,"hom_eas_male":0,"hom_female":0,"hom_fin":0,"hom_fin_female":0,"hom_fin_male":0,"hom_male":0,"hom_nfe":0,"hom_nfe_est":0,"hom_nfe_female":0,"hom_nfe_male":0,"hom_nfe_nwe":0,"hom_nfe_onf":0,"hom_nfe_seu":0,"hom_oth":0,"hom_oth_female":0,"hom_oth_male":0},"inbreedingcoeff":0.0003,"mq":{"mq":60.0,"mqranksum":-0.733},"pab_max":1.0,"pos":165547659,"qd":13.01,"readposranksum":-0.296,"ref":"C","rf":0.854954,"rsid":"rs1383286555","sor":0.542,"type":"snp","vqslod":13.65,"vqsr_culprit":"MQ"},"hg19":{"end":165547659,"start":165547659},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"2455","position":"1330"},"cds":{"length":"1809","position":"1163"},"effect":"missense_variant","feature_id":"NM_000055.3","feature_type":"transcript","gene_id":"BCHE","genename":"BCHE","hgvs_c":"c.1163G>A","hgvs_p":"p.Gly388Glu","protein":{"length":"602","position":"388"},"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+7443G>A","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.1330G>A","putative_impact":"MODIFIER","rank":"2","total":"5","transcript_biotype":"pseudogene"}]},"vcf":{"alt":"T","position":"165547659","ref":"C"}}