{"took":11,"total":88731,"max_score":8.033225,"hits":[{"_id":"chr6:g.152443702G>A","_score":8.033225,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"A","anc":"G","annotype":"CodingTranscript","bstatistic":693,"chmm":{"bivflnk":0.0,"enh":0.071,"enhbiv":0.0,"het":0.0,"quies":0.181,"reprpc":0.0,"reprpcwk":0.008,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.504,"txflnk":0.0,"txwk":0.213,"znfrpts":0.008},"chrom":6,"consdetail":"synonymous","consequence":"SYNONYMOUS","consscore":5,"cpg":0.08,"dna":{"helt":-2.28,"mgw":-0.03,"prot":1.66,"roll":-1.14},"encode":{"exp":100.23,"h3k27ac":3.76,"h3k4me1":5.0,"h3k4me3":4.72,"nucleo":1.4},"exon":"146/146","fitcons":0.604399,"gc":0.61,"gene":{"ccds_id":"CCDS5236.2","cds":{"cdna_pos":26865,"cds_pos":26263,"rel_cdna_pos":0.97,"rel_cds_pos":1.0},"feature_id":"ENST00000367255","gene_id":"ENSG00000131018","genename":"SYNE1","prot":{"domain":"ndomain","protpos":8755,"rel_prot_pos":1.0}},"gerp":{"n":5.56,"rs":853.6,"rs_pval":6.40241e-157,"s":4.69},"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":39,"min_dist_tss":25197,"mirsvr":{"aln":166,"e":-23.83,"score":-0.6313},"mutindex":-34,"naa":"L","oaa":"L","phast_cons":{"mammalian":1.0,"primate":0.998,"vertebrate":1.0},"phred":11.23,"phylop":{"mammalian":1.339,"primate":0.651,"vertebrate":1.278},"pos":152443702,"rawscore":1.101965,"ref":"G","segway":"TF0","type":"SNV"},"chrom":"6","hg19":{"end":152443702,"start":152443702},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"27748","position":"26865"},"cds":{"length":"26394","position":"26263"},"effect":"synonymous_variant","feature_id":"NM_182961.3","feature_type":"transcript","gene_id":"SYNE1","genename":"SYNE1","hgvs_c":"c.26263C>T","hgvs_p":"p.Leu8755Leu","protein":{"length":"8797","position":"8755"},"putative_impact":"LOW","rank":"146","total":"146","transcript_biotype":"protein_coding"},{"cdna":{"length":"27439","position":"26556"},"cds":{"length":"26250","position":"26119"},"effect":"synonymous_variant","feature_id":"NM_033071.3","feature_type":"transcript","gene_id":"SYNE1","genename":"SYNE1","hgvs_c":"c.26119C>T","hgvs_p":"p.Leu8707Leu","protein":{"length":"8749","position":"8707"},"putative_impact":"LOW","rank":"146","total":"146","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_001328100.1","feature_type":"transcript","gene_id":"ESR1","genename":"ESR1","hgvs_c":"c.851-2699G>A","putative_impact":"MODIFIER","rank":"6","total":"6","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"A","position":"152443702","ref":"G"}},{"_id":"chr6:g.152443706A>C","_score":8.033225,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"C","anc":"A","annotype":"CodingTranscript","bstatistic":693,"chmm":{"bivflnk":0.0,"enh":0.071,"enhbiv":0.0,"het":0.0,"quies":0.181,"reprpc":0.0,"reprpcwk":0.008,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.504,"txflnk":0.0,"txwk":0.213,"znfrpts":0.008},"chrom":6,"consdetail":"synonymous","consequence":"SYNONYMOUS","consscore":5,"cpg":0.08,"dna":{"helt":-1.81,"mgw":1.51,"prot":3.96,"roll":10.24},"encode":{"exp":109.29,"h3k27ac":3.76,"h3k4me1":5.0,"h3k4me3":4.72,"nucleo":1.5},"exon":"146/146","fitcons":0.625622,"gc":0.61,"gene":{"ccds_id":"CCDS5236.2","cds":{"cdna_pos":26861,"cds_pos":26259,"rel_cdna_pos":0.97,"rel_cds_pos":0.99},"feature_id":"ENST00000367255","gene_id":"ENSG00000131018","genename":"SYNE1","prot":{"domain":"ndomain","protpos":8753,"rel_prot_pos":0.99}},"gerp":{"n":5.56,"rs":853.6,"rs_pval":6.40241e-157,"s":-3.19},"isderived":"TRUE","isknownvariant":"FALSE","istv":"TRUE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":35,"min_dist_tss":25193,"mirsvr":{"aln":166,"e":-23.83,"score":-0.6313},"mutindex":-28,"naa":"L","oaa":"L","phast_cons":{"mammalian":0.969,"primate":0.998,"vertebrate":0.917},"phred":0.173,"phylop":{"mammalian":-0.846,"primate":0.53,"vertebrate":-0.395},"pos":152443706,"rawscore":-0.541839,"ref":"A","segway":"TF0","type":"SNV"},"chrom":"6","hg19":{"end":152443706,"start":152443706},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"27748","position":"26861"},"cds":{"length":"26394","position":"26259"},"effect":"synonymous_variant","feature_id":"NM_182961.3","feature_type":"transcript","gene_id":"SYNE1","genename":"SYNE1","hgvs_c":"c.26259T>G","hgvs_p":"p.Leu8753Leu","protein":{"length":"8797","position":"8753"},"putative_impact":"LOW","rank":"146","total":"146","transcript_biotype":"protein_coding"},{"cdna":{"length":"27439","position":"26552"},"cds":{"length":"26250","position":"26115"},"effect":"synonymous_variant","feature_id":"NM_033071.3","feature_type":"transcript","gene_id":"SYNE1","genename":"SYNE1","hgvs_c":"c.26115T>G","hgvs_p":"p.Leu8705Leu","protein":{"length":"8749","position":"8705"},"putative_impact":"LOW","rank":"146","total":"146","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_001328100.1","feature_type":"transcript","gene_id":"ESR1","genename":"ESR1","hgvs_c":"c.851-2695A>C","putative_impact":"MODIFIER","rank":"6","total":"6","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"C","position":"152443706","ref":"A"}},{"_id":"chr6:g.152443713A>G","_score":8.033225,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"G","anc":"A","annotype":"CodingTranscript","bstatistic":693,"chmm":{"bivflnk":0.0,"enh":0.071,"enhbiv":0.0,"het":0.0,"quies":0.181,"reprpc":0.0,"reprpcwk":0.008,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.504,"txflnk":0.0,"txwk":0.213,"znfrpts":0.008},"chrom":6,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.08,"dna":{"helt":0.74,"mgw":0.3,"prot":1.63,"roll":1.56},"encode":{"exp":111.42,"h3k27ac":3.76,"h3k4me1":5.0,"h3k4me3":4.72,"nucleo":1.6},"exon":"146/146","fitcons":0.625622,"gc":0.62,"gene":{"ccds_id":"CCDS5236.2","cds":{"cdna_pos":26854,"cds_pos":26252,"rel_cdna_pos":0.97,"rel_cds_pos":0.99},"feature_id":"ENST00000367255","gene_id":"ENSG00000131018","genename":"SYNE1","prot":{"domain":"ndomain","protpos":8751,"rel_prot_pos":0.99}},"gerp":{"n":5.56,"rs":853.6,"rs_pval":6.40241e-157,"s":5.56},"grantham":98,"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":28,"min_dist_tss":25186,"mirsvr":{"aln":143,"e":-13.35,"score":-1.0118},"mutindex":-30,"naa":"P","oaa":"L","phast_cons":{"mammalian":0.141,"primate":0.992,"vertebrate":0.958},"phred":29.3,"phylop":{"mammalian":2.111,"primate":0.53,"vertebrate":5.051},"polyphen":{"cat":"probably_damaging","val":0.975},"pos":152443713,"rawscore":6.344498,"ref":"A","segway":"TF0","sift":{"cat":"deleterious","val":0},"type":"SNV"},"chrom":"6","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"P","codon_degeneracy":[0,0,0,0,0],"codonpos":[2,2,2,2,2],"pos":[8751,8346,906,8703,929],"ref":"L","refcodon":["CTT","CTT","CTT","CTT","CTT"]},"alphamissense":{"pred":["P","P","P"],"rankscore":0.75613,"score":[0.6309,0.7629,0.7103]},"alt":"G","altai_neandertal":["A","A"],"ancestral_allele":"A","appris":["principal4","alternative2","alternative2"],"bayesdel":{"add_af":{"pred":"D","rankscore":0.71482,"score":0.17392},"no_af":{"pred":"D","rankscore":0.71115,"score":0.0120474}},"bstatistic":{"converted_rankscore":0.30165,"score":877.0},"chagyrskaya_neandertal":["A","A"],"chrom":"6","clinpred":{"pred":"D","rankscore":0.86633,"score":0.9949871301651},"dann":{"rankscore":0.94093,"score":0.9986297889351152},"denisova":["A","A"],"deogen2":{"pred":["T","T","T"],"rankscore":0.67099,"score":[0.298434,0.085974,0.086639]},"eigen":{"phred_coding":7.907379,"raw_coding":0.751671276019243,"raw_coding_rankscore":0.83015},"eigen-pc":{"phred_coding":7.075402,"raw_coding":0.660628957547112,"raw_coding_rankscore":0.79405},"ensembl":{"geneid":["ENSG00000131018","ENSG00000131018","ENSG00000131018","ENSG00000131018","ENSG00000131018"],"proteinid":["ENSP00000356224","ENSP00000341887","ENSP00000441052","ENSP00000396024","ENSP00000346701"],"transcriptid":["ENST00000367255","ENST00000341594","ENST00000539504","ENST00000423061","ENST00000354674"]},"esm1b":{"pred":"D","rankscore":0.82163,"score":-11.468},"fathmm":{"converted_rankscore":0.34648,"pred":["T","T","T","T"],"score":[1.35,1.35,1.35,1.35]},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"D","coding_rankscore":0.90464,"coding_score":0.99048},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.97264,"coding_score":0.955068},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.81188,"score":0.709663},"h1-hesc":{"confidence_value":0,"rankscore":0.55881,"score":0.658983},"huvec":{"confidence_value":0,"rankscore":0.53088,"score":0.635551},"integrated":{"confidence_value":0,"rankscore":0.61202,"score":0.706298}},"gencode_basic":["Y","Y","Y","Y","Y"],"genename":["SYNE1","SYNE1","SYNE1","SYNE1","SYNE1"],"genocanyon":{"rankscore":0.74766,"score":0.99999999183433},"gerp++":{"nr":5.56,"rs":5.56,"rs_rankscore":0.83678},"gmvp":{"rankscore":0.84435,"score":0.84474389773101},"hg18":{"end":152485406,"start":152485406},"hg19":{"end":152443713,"start":152443713},"hg38":{"end":152122578,"start":152122578},"hgvsc":["c.26252T>C","c.26108T>C","c.2717T>C","c.2786T>C","c.25037T>C"],"hgvsp":["p.L8703P","p.Leu929Pro","p.L929P","p.Leu8751Pro","p.L8751P","p.Leu8346Pro","p.L8346P","p.L906P","p.Leu8703Pro","p.Leu906Pro"],"interpro":{"domain":["KASH domain|KASH domain|KASH domain","KASH domain|KASH domain|KASH domain","KASH domain|KASH domain|KASH domain","KASH domain|KASH domain|KASH domain","KASH domain|KASH domain|KASH domain"]},"list-s2":{"pred":["D","D","D","D","D"],"rankscore":0.89432,"score":[0.970603,0.970603,0.970603,0.970603,0.970603]},"lrt":{"converted_rankscore":0.32193,"omega":0.14148,"pred":"N","score":0.006209},"m-cap":{"pred":"D","rankscore":0.75287,"score":0.089226},"metalr":{"pred":"T","rankscore":0.56087,"score":0.2034},"metarnn":{"pred":["D","D","D","D","D"],"rankscore":0.95048,"score":[0.95679355,0.95679355,0.95679355,0.95679355,0.95679355]},"metasvm":{"pred":"T","rankscore":0.64805,"score":-0.6003},"mpc":{"rankscore":0.6412,"score":0.758343657554},"mutationassessor":{"pred":"M","rankscore":0.77858,"score":2.66},"mutationtaster":{"aae":["L8751P","L906P","L8703P","L929P","L8751P","L8703P","L8363P","L3275P"],"converted_rankscore":0.81001,"model":["without_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae"],"pred":["D","D","D","D","D","D","D","D","D"],"score":[1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0]},"mutformer":{"rankscore":0.91288,"score":0.9011883},"mutpred":{"aa_change":"L8751P","accession":"Q8NF91","pred":{"mechanism":"Gain of catalytic residue at P8750","p_val":0.0194},"rankscore":0.96835,"score":0.88},"mvp":{"rankscore":0.58084,"score":[0.58411752329,0.58411752329,0.58411752329,0.58411752329,0.58411752329]},"phactboost":{"rankscore":0.73281,"score":0.8539350899772},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.76049,"score":0.996},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.96006,"score":9.325},"17way_primate":{"rankscore":0.94297,"score":0.756},"470way_mammalian":{"rankscore":0.88702,"score":11.192}},"polyphen2":{"hdiv":{"pred":"D","rankscore":0.66517,"score":0.994},"hvar":{"pred":"D","rankscore":0.73362,"score":0.975}},"primateai":{"pred":"T","rankscore":0.61687,"score":0.661940574646},"provean":{"converted_rankscore":0.90852,"pred":["D","D","D","D"],"score":[-6.32,-6.31,-6.32,-6.31]},"ref":"A","reliability_index":10,"revel":{"rankscore":0.82175,"score":[0.564,0.564,0.564,0.564,0.564]},"sift":{"converted_rankscore":0.91255,"pred":["D","D","D","D"],"score":[0.0,0.0,0.0,0.0]},"sift4g":{"converted_rankscore":0.83351,"pred":["D","D","D","D","D"],"score":[0.001,0.001,0.001,0.001,0.001]},"siphy_29way":{"logodds_rankscore":0.77408,"logodds_score":15.7131,"pi":{"a":1.0,"c":0.0,"g":0.0,"t":0.0}},"tsl":[1,5,5,1,5],"uniprot":[{"acc":"Q8NF91","entry":"SYNE1_HUMAN"},{"acc":"E7ENN3","entry":"E7ENN3_HUMAN"},{"acc":"Q5JV20","entry":"Q5JV20_HUMAN"},{"acc":"A0A0C4DG40","entry":"A0A0C4DG40_HUMAN"},{"acc":"F8WAI0","entry":"F8WAI0_HUMAN"}],"varity":{"er":{"rankscore":0.98099,"score":0.94514626},"er_loo":{"rankscore":0.981,"score":0.94514626},"r":{"rankscore":0.97249,"score":0.9596982},"r_loo":{"rankscore":0.97249,"score":0.9596982}},"vep_canonical":"YES","vest4":{"rankscore":0.79986,"score":[0.729,0.791,0.804,0.732,0.757]},"vindijia_neandertal":["A","A"]},"hg19":{"end":152443713,"start":152443713},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"27748","position":"26854"},"cds":{"length":"26394","position":"26252"},"effect":"missense_variant","feature_id":"NM_182961.3","feature_type":"transcript","gene_id":"SYNE1","genename":"SYNE1","hgvs_c":"c.26252T>C","hgvs_p":"p.Leu8751Pro","protein":{"length":"8797","position":"8751"},"putative_impact":"MODERATE","rank":"146","total":"146","transcript_biotype":"protein_coding"},{"cdna":{"length":"27439","position":"26545"},"cds":{"length":"26250","position":"26108"},"effect":"missense_variant","feature_id":"NM_033071.3","feature_type":"transcript","gene_id":"SYNE1","genename":"SYNE1","hgvs_c":"c.26108T>C","hgvs_p":"p.Leu8703Pro","protein":{"length":"8749","position":"8703"},"putative_impact":"MODERATE","rank":"146","total":"146","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_001328100.1","feature_type":"transcript","gene_id":"ESR1","genename":"ESR1","hgvs_c":"c.851-2688A>G","putative_impact":"MODIFIER","rank":"6","total":"6","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"G","position":"152443713","ref":"A"}},{"_id":"chr6:g.152443718A>T","_score":8.033225,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"T","anc":"A","annotype":"CodingTranscript","bstatistic":693,"chmm":{"bivflnk":0.0,"enh":0.071,"enhbiv":0.0,"het":0.0,"quies":0.181,"reprpc":0.0,"reprpcwk":0.008,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.504,"txflnk":0.0,"txwk":0.213,"znfrpts":0.008},"chrom":6,"consdetail":"synonymous","consequence":"SYNONYMOUS","consscore":5,"cpg":0.09,"dna":{"helt":-1.45,"mgw":1.26,"prot":1.62,"roll":8.64},"encode":{"exp":108.76,"h3k27ac":3.76,"h3k4me1":5.0,"h3k4me3":4.72,"nucleo":1.8},"exon":"146/146","fitcons":0.625622,"gc":0.6,"gene":{"ccds_id":"CCDS5236.2","cds":{"cdna_pos":26849,"cds_pos":26247,"rel_cdna_pos":0.97,"rel_cds_pos":0.99},"feature_id":"ENST00000367255","gene_id":"ENSG00000131018","genename":"SYNE1","prot":{"domain":"ndomain","protpos":8749,"rel_prot_pos":0.99}},"gerp":{"n":5.56,"rs":853.6,"rs_pval":6.40241e-157,"s":-7.12},"isderived":"TRUE","isknownvariant":"FALSE","istv":"TRUE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":23,"min_dist_tss":25181,"mirsvr":{"aln":143,"e":-13.35,"score":-1.0118},"mutindex":-25,"naa":"L","oaa":"L","phast_cons":{"mammalian":0.753,"primate":0.991,"vertebrate":0.969},"phred":4.638,"phylop":{"mammalian":-0.79,"primate":0.53,"vertebrate":-0.174},"pos":152443718,"rawscore":0.196132,"ref":"A","segway":"TF0","type":"SNV"},"chrom":"6","hg19":{"end":152443718,"start":152443718},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"27748","position":"26849"},"cds":{"length":"26394","position":"26247"},"effect":"synonymous_variant","feature_id":"NM_182961.3","feature_type":"transcript","gene_id":"SYNE1","genename":"SYNE1","hgvs_c":"c.26247T>A","hgvs_p":"p.Leu8749Leu","protein":{"length":"8797","position":"8749"},"putative_impact":"LOW","rank":"146","total":"146","transcript_biotype":"protein_coding"},{"cdna":{"length":"27439","position":"26540"},"cds":{"length":"26250","position":"26103"},"effect":"synonymous_variant","feature_id":"NM_033071.3","feature_type":"transcript","gene_id":"SYNE1","genename":"SYNE1","hgvs_c":"c.26103T>A","hgvs_p":"p.Leu8701Leu","protein":{"length":"8749","position":"8701"},"putative_impact":"LOW","rank":"146","total":"146","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_001328100.1","feature_type":"transcript","gene_id":"ESR1","genename":"ESR1","hgvs_c":"c.851-2683A>T","putative_impact":"MODIFIER","rank":"6","total":"6","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"T","position":"152443718","ref":"A"}},{"_id":"chr6:g.152443721A>G","_score":8.033225,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"G","anc":"A","annotype":"CodingTranscript","bstatistic":693,"chmm":{"bivflnk":0.0,"enh":0.071,"enhbiv":0.0,"het":0.0,"quies":0.181,"reprpc":0.0,"reprpcwk":0.008,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.504,"txflnk":0.0,"txwk":0.213,"znfrpts":0.008},"chrom":6,"consdetail":"synonymous","consequence":"SYNONYMOUS","consscore":5,"cpg":0.09,"dna":{"helt":-0.99,"mgw":1.01,"prot":4.08,"roll":4.38},"encode":{"exp":113.55,"h3k27ac":3.76,"h3k4me1":5.0,"h3k4me3":4.72,"nucleo":2.0},"exon":"146/146","fitcons":0.625622,"gc":0.61,"gene":{"ccds_id":"CCDS5236.2","cds":{"cdna_pos":26846,"cds_pos":26244,"rel_cdna_pos":0.97,"rel_cds_pos":0.99},"feature_id":"ENST00000367255","gene_id":"ENSG00000131018","genename":"SYNE1","prot":{"domain":"ndomain","protpos":8748,"rel_prot_pos":0.99}},"gerp":{"n":5.56,"rs":853.6,"rs_pval":6.40241e-157,"s":1.87},"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":20,"min_dist_tss":25178,"mirsvr":{"aln":143,"e":-13.35,"score":-1.0118},"mutindex":-13,"naa":"A","oaa":"A","phast_cons":{"mammalian":0.914,"primate":0.979,"vertebrate":0.999},"phred":5.11,"phylop":{"mammalian":0.086,"primate":-0.255,"vertebrate":0.407},"pos":152443721,"rawscore":0.241421,"ref":"A","segway":"TF0","type":"SNV"},"chrom":"6","hg19":{"end":152443721,"start":152443721},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"27748","position":"26846"},"cds":{"length":"26394","position":"26244"},"effect":"synonymous_variant","feature_id":"NM_182961.3","feature_type":"transcript","gene_id":"SYNE1","genename":"SYNE1","hgvs_c":"c.26244T>C","hgvs_p":"p.Ala8748Ala","protein":{"length":"8797","position":"8748"},"putative_impact":"LOW","rank":"146","total":"146","transcript_biotype":"protein_coding"},{"cdna":{"length":"27439","position":"26537"},"cds":{"length":"26250","position":"26100"},"effect":"synonymous_variant","feature_id":"NM_033071.3","feature_type":"transcript","gene_id":"SYNE1","genename":"SYNE1","hgvs_c":"c.26100T>C","hgvs_p":"p.Ala8700Ala","protein":{"length":"8749","position":"8700"},"putative_impact":"LOW","rank":"146","total":"146","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_001328100.1","feature_type":"transcript","gene_id":"ESR1","genename":"ESR1","hgvs_c":"c.851-2680A>G","putative_impact":"MODIFIER","rank":"6","total":"6","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"G","position":"152443721","ref":"A"}},{"_id":"chr6:g.152443723C>A","_score":8.033225,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"A","anc":"C","annotype":"CodingTranscript","bstatistic":693,"chmm":{"bivflnk":0.0,"enh":0.071,"enhbiv":0.0,"het":0.0,"quies":0.181,"reprpc":0.0,"reprpcwk":0.008,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.504,"txflnk":0.0,"txwk":0.213,"znfrpts":0.008},"chrom":6,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.09,"dna":{"helt":0.63,"mgw":-0.05,"prot":-3.74,"roll":-1.87},"encode":{"exp":114.62,"h3k27ac":3.76,"h3k4me1":5.0,"h3k4me3":4.72,"nucleo":2.1},"exon":"146/146","fitcons":0.625622,"gc":0.61,"gene":{"ccds_id":"CCDS5236.2","cds":{"cdna_pos":26844,"cds_pos":26242,"rel_cdna_pos":0.97,"rel_cds_pos":0.99},"feature_id":"ENST00000367255","gene_id":"ENSG00000131018","genename":"SYNE1","prot":{"domain":"ndomain","protpos":8748,"rel_prot_pos":0.99}},"gerp":{"n":5.56,"rs":853.6,"rs_pval":6.40241e-157,"s":5.56},"grantham":99,"isderived":"TRUE","isknownvariant":"FALSE","istv":"TRUE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":18,"min_dist_tss":25176,"mirsvr":{"aln":143,"e":-13.35,"score":-1.0118},"mutindex":-10,"naa":"S","oaa":"A","phast_cons":{"mammalian":0.908,"primate":0.979,"vertebrate":1.0},"phred":33,"phylop":{"mammalian":2.612,"primate":0.651,"vertebrate":6.116},"polyphen":{"cat":"probably_damaging","val":0.999},"pos":152443723,"rawscore":7.073846,"ref":"C","segway":"TF0","sift":{"cat":"deleterious","val":0},"type":"SNV"},"chrom":"6","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"S","codon_degeneracy":[0,0,0,0,0],"codonpos":[1,1,1,1,1],"pos":[8748,8343,903,8700,926],"ref":"A","refcodon":["GCT","GCT","GCT","GCT","GCT"]},"alphamissense":{"pred":["B","B","B"],"rankscore":0.49645,"score":[0.2618,0.2286,0.203]},"alt":"A","altai_neandertal":["C","C"],"ancestral_allele":"C","appris":["principal4","alternative2","alternative2"],"bayesdel":{"add_af":{"pred":"T","rankscore":0.60372,"score":0.0661031},"no_af":{"pred":"T","rankscore":0.59872,"score":-0.142824}},"bstatistic":{"converted_rankscore":0.30165,"score":877.0},"chagyrskaya_neandertal":["C","C"],"chrom":"6","clinpred":{"pred":"D","rankscore":0.88445,"score":0.995985925197601},"dann":{"rankscore":0.94726,"score":0.9986994000175486},"denisova":["C","C"],"deogen2":{"pred":["T","T","T"],"rankscore":0.48916,"score":[0.14992,0.069515,0.032713]},"eigen":{"phred_coding":8.406255,"raw_coding":0.780260551084716,"raw_coding_rankscore":0.84858},"eigen-pc":{"phred_coding":8.972231,"raw_coding":0.757208392456835,"raw_coding_rankscore":0.86693},"ensembl":{"geneid":["ENSG00000131018","ENSG00000131018","ENSG00000131018","ENSG00000131018","ENSG00000131018"],"proteinid":["ENSP00000356224","ENSP00000341887","ENSP00000441052","ENSP00000396024","ENSP00000346701"],"transcriptid":["ENST00000367255","ENST00000341594","ENST00000539504","ENST00000423061","ENST00000354674"]},"esm1b":{"pred":"D","rankscore":0.60346,"score":-7.894},"fathmm":{"converted_rankscore":0.34253,"pred":["T","T","T","T"],"score":[1.37,1.37,1.37,1.37]},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"D","coding_rankscore":0.81149,"coding_score":0.98273},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.75301,"coding_score":0.835047},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.81188,"score":0.709663},"h1-hesc":{"confidence_value":0,"rankscore":0.55881,"score":0.658983},"huvec":{"confidence_value":0,"rankscore":0.53088,"score":0.635551},"integrated":{"confidence_value":0,"rankscore":0.61202,"score":0.706298}},"gencode_basic":["Y","Y","Y","Y","Y"],"genename":["SYNE1","SYNE1","SYNE1","SYNE1","SYNE1"],"genocanyon":{"rankscore":0.74766,"score":0.99999999999811},"gerp":{"91_mammals":{"rankscore":0.77088,"score":4.04}},"gerp++":{"nr":5.56,"rs":5.56,"rs_rankscore":0.83678},"gmvp":{"rankscore":0.53646,"score":0.5372164822867452},"hg18":{"end":152485416,"start":152485416},"hg19":{"end":152443723,"start":152443723},"hg38":{"end":152122588,"start":152122588},"hgvsc":["c.26242G>T","c.2776G>T","c.2707G>T","c.25027G>T","c.26098G>T"],"hgvsp":["p.A8343S","p.A926S","p.A8748S","p.Ala903Ser","p.Ala8700Ser","p.Ala926Ser","p.Ala8343Ser","p.Ala8748Ser","p.A8700S","p.A903S"],"interpro":{"domain":["KASH domain|KASH domain|KASH domain","KASH domain|KASH domain|KASH domain","KASH domain|KASH domain|KASH domain","KASH domain|KASH domain|KASH domain","KASH domain|KASH domain|KASH domain"]},"list-s2":{"pred":["D","D","D","D","D"],"rankscore":0.8597,"score":[0.962504,0.962504,0.962504,0.962504,0.962504]},"lrt":{"converted_rankscore":0.52346,"omega":0.0,"pred":"D","score":0.000078},"m-cap":{"pred":"D","rankscore":0.48656,"score":0.025701},"metalr":{"pred":"T","rankscore":0.5399,"score":0.1888},"metarnn":{"pred":["D","D","D","D","D"],"rankscore":0.61858,"score":[0.50665855,0.50665855,0.50665855,0.50665855,0.50665855]},"metasvm":{"pred":"T","rankscore":0.56481,"score":-0.7768},"mpc":{"rankscore":0.53801,"score":0.579131586749},"mutationassessor":{"pred":"L","rankscore":0.45626,"score":1.755},"mutationtaster":{"aae":["A8748S","A903S","A8700S","A926S","A8748S","A8700S","A8360S","A3272S"],"converted_rankscore":0.81001,"model":["without_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae"],"pred":["D","D","D","D","D","D","D","D","D"],"score":[1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0]},"mutformer":{"rankscore":0.8876,"score":0.8152627},"mutpred":{"aa_change":"A8748S","accession":"Q8NF91","pred":{"mechanism":"Gain of phosphorylation at A8748","p_val":0.0438},"rankscore":0.88484,"score":0.755},"mvp":{"rankscore":0.50099,"score":[0.504604281553,0.504604281553,0.504604281553,0.504604281553,0.504604281553]},"phactboost":{"rankscore":0.30282,"score":0.0222076419817703},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.66497,"score":0.991},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.7059,"score":6.036},"17way_primate":{"rankscore":0.4025,"score":0.599},"470way_mammalian":{"rankscore":0.62562,"score":7.627}},"polyphen2":{"hdiv":{"pred":"D","rankscore":0.90584,"score":1.0},"hvar":{"pred":"D","rankscore":0.97372,"score":1.0}},"primateai":{"pred":"T","rankscore":0.40675,"score":0.513240098953},"provean":{"converted_rankscore":0.60507,"pred":["D","D","D","D"],"score":[-2.87,-2.88,-2.87,-2.88]},"ref":"C","reliability_index":10,"revel":{"rankscore":0.75551,"score":[0.457,0.457,0.457,0.457,0.457]},"sift":{"converted_rankscore":0.91255,"pred":["D","D","D","D"],"score":[0.0,0.0,0.0,0.0]},"sift4g":{"converted_rankscore":0.60972,"pred":["D","D","T","D","T"],"score":[0.016,0.016,0.054,0.016,0.055]},"siphy_29way":{"logodds_rankscore":0.95201,"logodds_score":19.5261,"pi":{"a":0.0,"c":1.0,"g":0.0,"t":0.0}},"tsl":[1,5,5,1,5],"uniprot":[{"acc":"Q8NF91","entry":"SYNE1_HUMAN"},{"acc":"E7ENN3","entry":"E7ENN3_HUMAN"},{"acc":"Q5JV20","entry":"Q5JV20_HUMAN"},{"acc":"A0A0C4DG40","entry":"A0A0C4DG40_HUMAN"},{"acc":"F8WAI0","entry":"F8WAI0_HUMAN"}],"varity":{"er":{"rankscore":0.76543,"score":0.5959889},"er_loo":{"rankscore":0.76544,"score":0.5959889},"r":{"rankscore":0.72969,"score":0.60517406},"r_loo":{"rankscore":0.7297,"score":0.60517406}},"vep_canonical":"YES","vest4":{"rankscore":0.56576,"score":[0.462,0.538,0.363,0.477,0.391]},"vindijia_neandertal":["C","C"]},"hg19":{"end":152443723,"start":152443723},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"27748","position":"26844"},"cds":{"length":"26394","position":"26242"},"effect":"missense_variant","feature_id":"NM_182961.3","feature_type":"transcript","gene_id":"SYNE1","genename":"SYNE1","hgvs_c":"c.26242G>T","hgvs_p":"p.Ala8748Ser","protein":{"length":"8797","position":"8748"},"putative_impact":"MODERATE","rank":"146","total":"146","transcript_biotype":"protein_coding"},{"cdna":{"length":"27439","position":"26535"},"cds":{"length":"26250","position":"26098"},"effect":"missense_variant","feature_id":"NM_033071.3","feature_type":"transcript","gene_id":"SYNE1","genename":"SYNE1","hgvs_c":"c.26098G>T","hgvs_p":"p.Ala8700Ser","protein":{"length":"8749","position":"8700"},"putative_impact":"MODERATE","rank":"146","total":"146","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_001328100.1","feature_type":"transcript","gene_id":"ESR1","genename":"ESR1","hgvs_c":"c.851-2678C>A","putative_impact":"MODIFIER","rank":"6","total":"6","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"A","position":"152443723","ref":"C"}},{"_id":"chr6:g.152443723C>T","_score":8.033225,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"T","anc":"C","annotype":"CodingTranscript","bstatistic":693,"chmm":{"bivflnk":0.0,"enh":0.071,"enhbiv":0.0,"het":0.0,"quies":0.181,"reprpc":0.0,"reprpcwk":0.008,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.504,"txflnk":0.0,"txwk":0.213,"znfrpts":0.008},"chrom":6,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.09,"dna":{"helt":1.46,"mgw":0.44,"prot":-1.02,"roll":1.03},"encode":{"exp":114.62,"h3k27ac":3.76,"h3k4me1":5.0,"h3k4me3":4.72,"nucleo":2.1},"exon":"146/146","fitcons":0.625622,"gc":0.61,"gene":{"ccds_id":"CCDS5236.2","cds":{"cdna_pos":26844,"cds_pos":26242,"rel_cdna_pos":0.97,"rel_cds_pos":0.99},"feature_id":"ENST00000367255","gene_id":"ENSG00000131018","genename":"SYNE1","prot":{"domain":"ndomain","protpos":8748,"rel_prot_pos":0.99}},"gerp":{"n":5.56,"rs":853.6,"rs_pval":6.40241e-157,"s":5.56},"grantham":58,"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":18,"min_dist_tss":25176,"mirsvr":{"aln":143,"e":-13.35,"score":-1.0118},"mutindex":-10,"naa":"T","oaa":"A","phast_cons":{"mammalian":0.908,"primate":0.979,"vertebrate":1.0},"phred":34,"phylop":{"mammalian":2.612,"primate":0.651,"vertebrate":6.116},"polyphen":{"cat":"probably_damaging","val":0.999},"pos":152443723,"rawscore":7.264207,"ref":"C","segway":"TF0","sift":{"cat":"deleterious","val":0},"type":"SNV"},"chrom":"6","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"T","codon_degeneracy":[0,0,0,0,0],"codonpos":[1,1,1,1,1],"pos":[8748,8343,903,8700,926],"ref":"A","refcodon":["GCT","GCT","GCT","GCT","GCT"]},"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":0,"af":0.0,"an":9690},"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":496},"other_asian":{"ac":0,"af":0.0,"an":26},"south_asian":{"ac":0,"af":0.0,"an":98},"total":{"ac":0,"af":0.0,"an":14050}},"alphamissense":{"pred":["P","A","A"],"rankscore":0.67702,"score":[0.5716,0.5153,0.5002]},"alt":"T","altai_neandertal":["C","C"],"ancestral_allele":"C","appris":["principal4","alternative2","alternative2"],"bayesdel":{"add_af":{"pred":"D","rankscore":0.69226,"score":0.14956},"no_af":{"pred":"D","rankscore":0.68834,"score":-0.0229433}},"bstatistic":{"converted_rankscore":0.30165,"score":877.0},"chagyrskaya_neandertal":["C","C"],"chrom":"6","clinpred":{"pred":"D","rankscore":0.9414,"score":0.998431265354156},"dann":{"rankscore":0.99579,"score":0.9993506563272059},"denisova":["C","C"],"deogen2":{"pred":["T","T","T"],"rankscore":0.63661,"score":[0.264798,0.089654,0.086531]},"eigen":{"phred_coding":10.98386,"raw_coding":0.897449198160353,"raw_coding_rankscore":0.91632},"eigen-pc":{"phred_coding":11.14148,"raw_coding":0.832048507924233,"raw_coding_rankscore":0.91926},"ensembl":{"geneid":["ENSG00000131018","ENSG00000131018","ENSG00000131018","ENSG00000131018","ENSG00000131018"],"proteinid":["ENSP00000356224","ENSP00000341887","ENSP00000441052","ENSP00000396024","ENSP00000346701"],"transcriptid":["ENST00000367255","ENST00000341594","ENST00000539504","ENST00000423061","ENST00000354674"]},"esm1b":{"pred":"D","rankscore":0.61553,"score":-8.071},"fathmm":{"converted_rankscore":0.35405,"pred":["T","T","T","T"],"score":[1.31,1.31,1.31,1.31]},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"D","coding_rankscore":0.78429,"coding_score":0.97958},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.73093,"coding_score":0.806692},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.81188,"score":0.709663},"h1-hesc":{"confidence_value":0,"rankscore":0.55881,"score":0.658983},"huvec":{"confidence_value":0,"rankscore":0.53088,"score":0.635551},"integrated":{"confidence_value":0,"rankscore":0.61202,"score":0.706298}},"gencode_basic":["Y","Y","Y","Y","Y"],"genename":["SYNE1","SYNE1","SYNE1","SYNE1","SYNE1"],"genocanyon":{"rankscore":0.74766,"score":0.99999999999811},"gerp":{"91_mammals":{"rankscore":0.77088,"score":4.04}},"gerp++":{"nr":5.56,"rs":5.56,"rs_rankscore":0.83678},"gmvp":{"rankscore":0.69929,"score":0.699881993251477},"hg18":{"end":152485416,"start":152485416},"hg19":{"end":152443723,"start":152443723},"hg38":{"end":152122588,"start":152122588},"hgvsc":["c.2707G>A","c.25027G>A","c.26098G>A","c.26242G>A","c.2776G>A"],"hgvsp":["p.Ala903Thr","p.A8343T","p.A8700T","p.Ala8343Thr","p.A926T","p.Ala926Thr","p.Ala8700Thr","p.A903T","p.A8748T","p.Ala8748Thr"],"interpro":{"domain":["KASH domain|KASH domain|KASH domain","KASH domain|KASH domain|KASH domain","KASH domain|KASH domain|KASH domain","KASH domain|KASH domain|KASH domain","KASH domain|KASH domain|KASH domain"]},"list-s2":{"pred":["D","D","D","D","D"],"rankscore":0.97691,"score":[0.992884,0.992884,0.992884,0.992884,0.992884]},"lrt":{"converted_rankscore":0.52346,"omega":0.0,"pred":"D","score":0.000078},"m-cap":{"pred":"D","rankscore":0.55002,"score":0.033466},"metalr":{"pred":"T","rankscore":0.64432,"score":0.2726},"metarnn":{"pred":["T","T","T","T","T"],"rankscore":0.61484,"score":[0.49987382,0.49987382,0.49987382,0.49987382,0.49987382]},"metasvm":{"pred":"T","rankscore":0.72595,"score":-0.3818},"mpc":{"rankscore":0.5488,"score":0.596337430271},"mutationassessor":{"pred":"M","rankscore":0.85029,"score":2.955},"mutationtaster":{"aae":["A8748T","A903T","A8700T","A926T","A8748T","A8700T","A8360T","A3272T"],"converted_rankscore":0.81001,"model":["without_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae"],"pred":["D","D","D","D","D","D","D","D","D"],"score":[1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0]},"mutformer":{"rankscore":0.91717,"score":0.91276956},"mvp":{"rankscore":0.56797,"score":[0.571313170166,0.571313170166,0.571313170166,0.571313170166,0.571313170166]},"phactboost":{"rankscore":0.43425,"score":0.101429828833452},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.66497,"score":0.991},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.7059,"score":6.036},"17way_primate":{"rankscore":0.4025,"score":0.599},"470way_mammalian":{"rankscore":0.62562,"score":7.627}},"polyphen2":{"hdiv":{"pred":"D","rankscore":0.90584,"score":1.0},"hvar":{"pred":"D","rankscore":0.97372,"score":1.0}},"primateai":{"pred":"T","rankscore":0.45071,"score":0.544421494007},"provean":{"converted_rankscore":0.7224,"pred":["D","D","D","D"],"score":[-3.83,-3.84,-3.83,-3.84]},"ref":"C","reliability_index":10,"revel":{"rankscore":0.75956,"score":[0.463,0.463,0.463,0.463,0.463]},"rsid":"rs1474908833","sift":{"converted_rankscore":0.91255,"pred":["D","D","D","D"],"score":[0.0,0.0,0.0,0.0]},"sift4g":{"converted_rankscore":0.79402,"pred":["D","D","D","D","D"],"score":[0.002,0.002,0.003,0.002,0.003]},"siphy_29way":{"logodds_rankscore":0.95201,"logodds_score":19.5261,"pi":{"a":0.0,"c":1.0,"g":0.0,"t":0.0}},"tsl":[1,5,5,1,5],"uniprot":[{"acc":"Q8NF91","entry":"SYNE1_HUMAN"},{"acc":"E7ENN3","entry":"E7ENN3_HUMAN"},{"acc":"Q5JV20","entry":"Q5JV20_HUMAN"},{"acc":"A0A0C4DG40","entry":"A0A0C4DG40_HUMAN"},{"acc":"F8WAI0","entry":"F8WAI0_HUMAN"}],"varity":{"er":{"rankscore":0.88213,"score":0.799093},"er_loo":{"rankscore":0.88213,"score":0.799093},"r":{"rankscore":0.84239,"score":0.80518496},"r_loo":{"rankscore":0.8424,"score":0.80518496}},"vep_canonical":"YES","vest4":{"rankscore":0.61172,"score":[0.539,0.592,0.422,0.546,0.482]},"vindijia_neandertal":["C","C"]},"dbsnp":{"_license":"http://bit.ly/2AqoLOc","alleles":[{"allele":"C","freq":{"dbgap_popfreq":1.0,"gnomad":1.0}},{"allele":"G","freq":{"dbgap_popfreq":0.0,"gnomad":0.0}},{"allele":"T","freq":{"dbgap_popfreq":0.0}}],"alt":"T","chrom":"6","dbsnp_build":156,"gene":[{"geneid":2099,"is_pseudo":false,"name":"estrogen receptor 1","rnas":[{"protein_product":{"refseq":"NP_000116.2"},"refseq":"NM_000125.4","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"NP_001116212.1"},"refseq":"NM_001122740.2","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"NP_001116213.1"},"refseq":"NM_001122741.2","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"NP_001116214.1"},"refseq":"NM_001122742.2","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"NP_001278159.1"},"refseq":"NM_001291230.2","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"NP_001278170.1"},"refseq":"NM_001291241.2","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"hgvs":"NM_001328100.2:c.851-2678=","protein_product":{"refseq":"NP_001315029.1"},"refseq":"NM_001328100.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"protein_product":{"refseq":"NP_001372497.1"},"refseq":"NM_001385568.1","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"NP_001372498.1"},"refseq":"NM_001385569.1","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"NP_001372499.1"},"refseq":"NM_001385570.1","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"NP_001372500.1"},"refseq":"NM_001385571.1","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"NP_001372501.1"},"refseq":"NM_001385572.1","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"XP_011533845.1"},"refseq":"XM_011535543.3","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"XP_011533847.1"},"refseq":"XM_011535545.3","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"XP_011533849.1"},"refseq":"XM_011535547.3","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"XP_011533851.1"},"refseq":"XM_011535549.3","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"XP_016865866.1"},"refseq":"XM_017010377.2","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"XP_016865867.1"},"refseq":"XM_017010378.2","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"XP_016865868.1"},"refseq":"XM_017010379.2","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"XP_016865869.1"},"refseq":"XM_017010380.2","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"XP_016865870.1"},"refseq":"XM_017010381.2","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"XP_016865872.1"},"refseq":"XM_017010383.2","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"XP_047274245.1"},"refseq":"XM_047418289.1","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"XP_047274246.1"},"refseq":"XM_047418290.1","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"XP_047274247.1"},"refseq":"XM_047418291.1","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"XP_047274248.1"},"refseq":"XM_047418292.1","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"XP_047274249.1"},"refseq":"XM_047418293.1","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"XP_047274250.1"},"refseq":"XM_047418294.1","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"XP_047274251.1"},"refseq":"XM_047418295.1","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"XP_047274252.1"},"refseq":"XM_047418296.1","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"XP_047274253.1"},"refseq":"XM_047418297.1","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"XP_047274254.1"},"refseq":"XM_047418298.1","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]},{"protein_product":{"refseq":"XP_047274255.1"},"refseq":"XM_047418299.1","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]}],"strand":"+","symbol":"ESR1"},{"geneid":23345,"is_pseudo":false,"name":"spectrin repeat containing nuclear envelope protein 1","rnas":[{"hgvs":"NM_001347701.2:c.*53=","protein_product":{"refseq":"NP_001334630.1"},"refseq":"NM_001347701.2","so":[{"accession":"SO:0001624","name":"3_prime_UTR_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":2883,"seq_id":"NM_001347702.2"},"hgvs":"NM_001347702.2:c.2776=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":925,"seq_id":"NP_001334631.1"}}},"protein_product":{"refseq":"NP_001334631.1"},"refseq":"NM_001347702.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26573,"seq_id":"NM_033071.5"},"hgvs":"NM_033071.5:c.26098=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8699,"seq_id":"NP_149062.2"}}},"protein_product":{"refseq":"NP_149062.2"},"refseq":"NM_033071.5","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26806,"seq_id":"NM_182961.4"},"hgvs":"NM_182961.4:c.26242=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8747,"seq_id":"NP_892006.3"}}},"protein_product":{"refseq":"NP_892006.3"},"refseq":"NM_182961.4","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26864,"seq_id":"XM_006715407.2"},"hgvs":"XM_006715407.2:c.26389=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8796,"seq_id":"XP_006715470.1"}}},"protein_product":{"refseq":"XP_006715470.1"},"refseq":"XM_006715407.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26852,"seq_id":"XM_006715408.3"},"hgvs":"XM_006715408.3:c.26377=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8792,"seq_id":"XP_006715471.1"}}},"protein_product":{"refseq":"XP_006715471.1"},"refseq":"XM_006715408.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26843,"seq_id":"XM_006715409.2"},"hgvs":"XM_006715409.2:c.26368=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8789,"seq_id":"XP_006715472.1"}}},"protein_product":{"refseq":"XP_006715472.1"},"refseq":"XM_006715409.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26822,"seq_id":"XM_006715410.3"},"hgvs":"XM_006715410.3:c.26347=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8782,"seq_id":"XP_006715473.1"}}},"protein_product":{"refseq":"XP_006715473.1"},"refseq":"XM_006715410.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26813,"seq_id":"XM_006715411.2"},"hgvs":"XM_006715411.2:c.26338=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8779,"seq_id":"XP_006715474.1"}}},"protein_product":{"refseq":"XP_006715474.1"},"refseq":"XM_006715411.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26807,"seq_id":"XM_006715412.3"},"hgvs":"XM_006715412.3:c.26332=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8777,"seq_id":"XP_006715475.1"}}},"protein_product":{"refseq":"XP_006715475.1"},"refseq":"XM_006715412.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26795,"seq_id":"XM_006715413.3"},"hgvs":"XM_006715413.3:c.26320=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8773,"seq_id":"XP_006715476.1"}}},"protein_product":{"refseq":"XP_006715476.1"},"refseq":"XM_006715413.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26792,"seq_id":"XM_006715414.2"},"hgvs":"XM_006715414.2:c.26317=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8772,"seq_id":"XP_006715477.1"}}},"protein_product":{"refseq":"XP_006715477.1"},"refseq":"XM_006715414.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26753,"seq_id":"XM_006715415.3"},"hgvs":"XM_006715415.3:c.26278=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8759,"seq_id":"XP_006715478.1"}}},"protein_product":{"refseq":"XP_006715478.1"},"refseq":"XM_006715415.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26738,"seq_id":"XM_006715416.3"},"hgvs":"XM_006715416.3:c.26263=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8754,"seq_id":"XP_006715479.1"}}},"protein_product":{"refseq":"XP_006715479.1"},"refseq":"XM_006715416.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26723,"seq_id":"XM_006715417.3"},"hgvs":"XM_006715417.3:c.26248=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8749,"seq_id":"XP_006715480.1"}}},"protein_product":{"refseq":"XP_006715480.1"},"refseq":"XM_006715417.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26711,"seq_id":"XM_006715420.3"},"hgvs":"XM_006715420.3:c.26236=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8745,"seq_id":"XP_006715483.1"}}},"protein_product":{"refseq":"XP_006715483.1"},"refseq":"XM_006715420.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26708,"seq_id":"XM_006715421.3"},"hgvs":"XM_006715421.3:c.26233=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8744,"seq_id":"XP_006715484.1"}}},"protein_product":{"refseq":"XP_006715484.1"},"refseq":"XM_006715421.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26705,"seq_id":"XM_006715422.2"},"hgvs":"XM_006715422.2:c.26230=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8743,"seq_id":"XP_006715485.1"}}},"protein_product":{"refseq":"XP_006715485.1"},"refseq":"XM_006715422.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"hgvs":"XM_006715423.3:c.*53=","protein_product":{"refseq":"XP_006715486.1"},"refseq":"XM_006715423.3","so":[{"accession":"SO:0001624","name":"3_prime_UTR_variant"}]},{"hgvs":"XM_006715424.3:c.*53=","protein_product":{"refseq":"XP_006715487.1"},"refseq":"XM_006715424.3","so":[{"accession":"SO:0001624","name":"3_prime_UTR_variant"}]},{"hgvs":"XM_006715425.3:c.*53=","protein_product":{"refseq":"XP_006715488.1"},"refseq":"XM_006715425.3","so":[{"accession":"SO:0001624","name":"3_prime_UTR_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26861,"seq_id":"XM_011535641.3"},"hgvs":"XM_011535641.3:c.26386=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8795,"seq_id":"XP_011533943.1"}}},"protein_product":{"refseq":"XP_011533943.1"},"refseq":"XM_011535641.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26849,"seq_id":"XM_011535642.3"},"hgvs":"XM_011535642.3:c.26374=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8791,"seq_id":"XP_011533944.1"}}},"protein_product":{"refseq":"XP_011533944.1"},"refseq":"XM_011535642.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26699,"seq_id":"XM_011535643.2"},"hgvs":"XM_011535643.2:c.26224=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8741,"seq_id":"XP_011533945.1"}}},"protein_product":{"refseq":"XP_011533945.1"},"refseq":"XM_011535643.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":25371,"seq_id":"XM_011535644.2"},"hgvs":"XM_011535644.2:c.24664=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8221,"seq_id":"XP_011533946.1"}}},"protein_product":{"refseq":"XP_011533946.1"},"refseq":"XM_011535644.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":24174,"seq_id":"XM_011535645.3"},"hgvs":"XM_011535645.3:c.24157=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8052,"seq_id":"XP_011533947.1"}}},"protein_product":{"refseq":"XP_011533947.1"},"refseq":"XM_011535645.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26953,"seq_id":"XM_017010608.2"},"hgvs":"XM_017010608.2:c.26389=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8796,"seq_id":"XP_016866097.1"}}},"protein_product":{"refseq":"XP_016866097.1"},"refseq":"XM_017010608.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26785,"seq_id":"XM_017010609.2"},"hgvs":"XM_017010609.2:c.26389=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8796,"seq_id":"XP_016866098.1"}}},"protein_product":{"refseq":"XP_016866098.1"},"refseq":"XM_017010609.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26764,"seq_id":"XM_017010610.2"},"hgvs":"XM_017010610.2:c.26368=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8789,"seq_id":"XP_016866099.1"}}},"protein_product":{"refseq":"XP_016866099.1"},"refseq":"XM_017010610.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26485,"seq_id":"XM_017010611.3"},"hgvs":"XM_017010611.3:c.26362=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8787,"seq_id":"XP_016866100.1"}}},"protein_product":{"refseq":"XP_016866100.1"},"refseq":"XM_017010611.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26434,"seq_id":"XM_017010612.2"},"hgvs":"XM_017010612.2:c.26311=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8770,"seq_id":"XP_016866101.1"}}},"protein_product":{"refseq":"XP_016866101.1"},"refseq":"XM_017010612.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26750,"seq_id":"XM_017010613.2"},"hgvs":"XM_017010613.2:c.26275=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8758,"seq_id":"XP_016866102.1"}}},"protein_product":{"refseq":"XP_016866102.1"},"refseq":"XM_017010613.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26708,"seq_id":"XM_017010614.2"},"hgvs":"XM_017010614.2:c.26233=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8744,"seq_id":"XP_016866103.1"}}},"protein_product":{"refseq":"XP_016866103.1"},"refseq":"XM_017010614.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26597,"seq_id":"XM_017010615.2"},"hgvs":"XM_017010615.2:c.26122=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8707,"seq_id":"XP_016866104.1"}}},"protein_product":{"refseq":"XP_016866104.1"},"refseq":"XM_017010615.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"hgvs":"XM_017010616.2:c.*53=","protein_product":{"refseq":"XP_016866105.1"},"refseq":"XM_017010616.2","so":[{"accession":"SO:0001624","name":"3_prime_UTR_variant"}]},{"hgvs":"XM_017010617.2:c.*53=","protein_product":{"refseq":"XP_016866106.1"},"refseq":"XM_017010617.2","so":[{"accession":"SO:0001624","name":"3_prime_UTR_variant"}]},{"hgvs":"XM_017010618.2:c.*53=","protein_product":{"refseq":"XP_016866107.1"},"refseq":"XM_017010618.2","so":[{"accession":"SO:0001624","name":"3_prime_UTR_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":25366,"seq_id":"XM_017010619.2"},"hgvs":"XM_017010619.2:c.24664=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8221,"seq_id":"XP_016866108.1"}}},"protein_product":{"refseq":"XP_016866108.1"},"refseq":"XM_017010619.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26932,"seq_id":"XM_047418501.1"},"hgvs":"XM_047418501.1:c.26368=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8789,"seq_id":"XP_047274457.1"}}},"protein_product":{"refseq":"XP_047274457.1"},"refseq":"XM_047418501.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26819,"seq_id":"XM_047418502.1"},"hgvs":"XM_047418502.1:c.26344=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8781,"seq_id":"XP_047274458.1"}}},"protein_product":{"refseq":"XP_047274458.1"},"refseq":"XM_047418502.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26902,"seq_id":"XM_047418503.1"},"hgvs":"XM_047418503.1:c.26338=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8779,"seq_id":"XP_047274459.1"}}},"protein_product":{"refseq":"XP_047274459.1"},"refseq":"XM_047418503.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26881,"seq_id":"XM_047418504.1"},"hgvs":"XM_047418504.1:c.26317=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8772,"seq_id":"XP_047274460.1"}}},"protein_product":{"refseq":"XP_047274460.1"},"refseq":"XM_047418504.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26780,"seq_id":"XM_047418505.1"},"hgvs":"XM_047418505.1:c.26305=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8768,"seq_id":"XP_047274461.1"}}},"protein_product":{"refseq":"XP_047274461.1"},"refseq":"XM_047418505.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26720,"seq_id":"XM_047418506.1"},"hgvs":"XM_047418506.1:c.26245=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8748,"seq_id":"XP_047274462.1"}}},"protein_product":{"refseq":"XP_047274462.1"},"refseq":"XM_047418506.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26684,"seq_id":"XM_047418507.1"},"hgvs":"XM_047418507.1:c.26209=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8736,"seq_id":"XP_047274463.1"}}},"protein_product":{"refseq":"XP_047274463.1"},"refseq":"XM_047418507.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26605,"seq_id":"XM_047418508.1"},"hgvs":"XM_047418508.1:c.26209=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8736,"seq_id":"XP_047274464.1"}}},"protein_product":{"refseq":"XP_047274464.1"},"refseq":"XM_047418508.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26669,"seq_id":"XM_047418509.1"},"hgvs":"XM_047418509.1:c.26194=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8731,"seq_id":"XP_047274465.1"}}},"protein_product":{"refseq":"XP_047274465.1"},"refseq":"XM_047418509.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26633,"seq_id":"XM_047418510.1"},"hgvs":"XM_047418510.1:c.26158=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8719,"seq_id":"XP_047274466.1"}}},"protein_product":{"refseq":"XP_047274466.1"},"refseq":"XM_047418510.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCT","inserted_sequence":"GCT","position":26600,"seq_id":"XM_047418511.1"},"hgvs":"XM_047418511.1:c.26125=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":8708,"seq_id":"XP_047274467.1"}}},"protein_product":{"refseq":"XP_047274467.1"},"refseq":"XM_047418511.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"hgvs":"XM_047418512.1:c.*53=","protein_product":{"refseq":"XP_047274468.1"},"refseq":"XM_047418512.1","so":[{"accession":"SO:0001624","name":"3_prime_UTR_variant"}]},{"protein_product":{"refseq":"XP_047274469.1"},"refseq":"XM_047418513.1","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]}],"strand":"-","symbol":"SYNE1"}],"hg19":{"end":152443723,"start":152443723},"ref":"C","rsid":"rs1474908833","vartype":"snv"},"hg19":{"end":152443723,"start":152443723},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"27748","position":"26844"},"cds":{"length":"26394","position":"26242"},"effect":"missense_variant","feature_id":"NM_182961.3","feature_type":"transcript","gene_id":"SYNE1","genename":"SYNE1","hgvs_c":"c.26242G>A","hgvs_p":"p.Ala8748Thr","protein":{"length":"8797","position":"8748"},"putative_impact":"MODERATE","rank":"146","total":"146","transcript_biotype":"protein_coding"},{"cdna":{"length":"27439","position":"26535"},"cds":{"length":"26250","position":"26098"},"effect":"missense_variant","feature_id":"NM_033071.3","feature_type":"transcript","gene_id":"SYNE1","genename":"SYNE1","hgvs_c":"c.26098G>A","hgvs_p":"p.Ala8700Thr","protein":{"length":"8749","position":"8700"},"putative_impact":"MODERATE","rank":"146","total":"146","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_001328100.1","feature_type":"transcript","gene_id":"ESR1","genename":"ESR1","hgvs_c":"c.851-2678C>T","putative_impact":"MODIFIER","rank":"6","total":"6","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"T","position":"152443723","ref":"C"}},{"_id":"chr6:g.152443725G>A","_score":8.033225,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"A","anc":"G","annotype":"CodingTranscript","bstatistic":693,"chmm":{"bivflnk":0.0,"enh":0.071,"enhbiv":0.0,"het":0.0,"quies":0.181,"reprpc":0.0,"reprpcwk":0.008,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.504,"txflnk":0.0,"txwk":0.213,"znfrpts":0.008},"chrom":6,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.09,"dna":{"helt":-2.21,"mgw":-0.03,"prot":1.66,"roll":-0.93},"encode":{"exp":117.29,"h3k27ac":3.76,"h3k4me1":5.0,"h3k4me3":4.72,"nucleo":2.2},"exon":"146/146","fitcons":0.604399,"gc":0.61,"gene":{"ccds_id":"CCDS5236.2","cds":{"cdna_pos":26842,"cds_pos":26240,"rel_cdna_pos":0.97,"rel_cds_pos":0.99},"feature_id":"ENST00000367255","gene_id":"ENSG00000131018","genename":"SYNE1","prot":{"domain":"ndomain","protpos":8747,"rel_prot_pos":0.99}},"gerp":{"n":5.56,"rs":853.6,"rs_pval":6.40241e-157,"s":4.69},"grantham":64,"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":16,"min_dist_tss":25174,"mirsvr":{"aln":143,"e":-13.35,"score":-1.0118},"mutindex":-19,"naa":"V","oaa":"A","phast_cons":{"mammalian":0.735,"primate":0.977,"vertebrate":0.996},"phred":24.8,"phylop":{"mammalian":1.349,"primate":0.651,"vertebrate":2.479},"polyphen":{"cat":"probably_damaging","val":0.999},"pos":152443725,"rawscore":4.848497,"ref":"G","segway":"TF0","sift":{"cat":"tolerated","val":0.29},"type":"SNV"},"chrom":"6","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"V","codon_degeneracy":[0,0,0,0,0],"codonpos":[2,2,2,2,2],"pos":[8747,8342,902,8699,925],"ref":"A","refcodon":["GCA","GCA","GCA","GCA","GCA"]},"alphamissense":{"pred":["B","B","B"],"rankscore":0.24566,"score":[0.1068,0.1135,0.1194]},"alt":"A","altai_neandertal":["G","G"],"ancestral_allele":"G","appris":["principal4","alternative2","alternative2"],"bayesdel":{"add_af":{"pred":"T","rankscore":0.34394,"score":-0.112268},"no_af":{"pred":"T","rankscore":0.33495,"score":-0.399042}},"bstatistic":{"converted_rankscore":0.30165,"score":877.0},"chagyrskaya_neandertal":["G","G"],"chrom":"6","clinpred":{"pred":"D","rankscore":0.62444,"score":0.94631963968277},"dann":{"rankscore":0.97275,"score":0.9990091920052868},"denisova":["G","G"],"deogen2":{"pred":["T","T","T"],"rankscore":0.60925,"score":[0.240845,0.068876,0.033078]},"eigen":{"phred_coding":4.321582,"raw_coding":0.396507843350056,"raw_coding_rankscore":0.61233},"eigen-pc":{"phred_coding":4.30498,"raw_coding":0.392393092241912,"raw_coding_rankscore":0.61094},"ensembl":{"geneid":["ENSG00000131018","ENSG00000131018","ENSG00000131018","ENSG00000131018","ENSG00000131018"],"proteinid":["ENSP00000356224","ENSP00000341887","ENSP00000441052","ENSP00000396024","ENSP00000346701"],"transcriptid":["ENST00000367255","ENST00000341594","ENST00000539504","ENST00000423061","ENST00000354674"]},"esm1b":{"pred":"T","rankscore":0.51138,"score":-6.611},"fathmm":{"converted_rankscore":0.22678,"pred":["T","T","T","T"],"score":[1.94,1.94,1.94,1.94]},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"D","coding_rankscore":0.54984,"coding_score":0.92118},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.47177,"coding_score":0.39457},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.81188,"score":0.709663},"h1-hesc":{"confidence_value":0,"rankscore":0.34648,"score":0.602189},"huvec":{"confidence_value":0,"rankscore":0.53088,"score":0.635551},"integrated":{"confidence_value":0,"rankscore":0.61202,"score":0.706298}},"gencode_basic":["Y","Y","Y","Y","Y"],"genename":["SYNE1","SYNE1","SYNE1","SYNE1","SYNE1"],"genocanyon":{"rankscore":0.30506,"score":0.9831151104246},"gerp++":{"nr":5.56,"rs":4.69,"rs_rankscore":0.58546},"gmvp":{"rankscore":0.47454,"score":0.4753591162168721},"hg18":{"end":152485418,"start":152485418},"hg19":{"end":152443725,"start":152443725},"hg38":{"end":152122590,"start":152122590},"hgvsc":["c.25025C>T","c.26096C>T","c.2705C>T","c.2774C>T","c.26240C>T"],"hgvsp":["p.Ala8699Val","p.A8699V","p.Ala902Val","p.A8342V","p.Ala8342Val","p.A902V","p.A925V","p.Ala925Val","p.A8747V","p.Ala8747Val"],"interpro":{"domain":["KASH domain|KASH domain|KASH domain","KASH domain|KASH domain|KASH domain","KASH domain|KASH domain|KASH domain","KASH domain|KASH domain|KASH domain","KASH domain|KASH domain|KASH domain"]},"list-s2":{"pred":["D","D","D","D","D"],"rankscore":0.78384,"score":[0.936606,0.936606,0.942406,0.936606,0.942406]},"lrt":{"converted_rankscore":0.27995,"omega":0.246954,"pred":"N","score":0.016367},"m-cap":{"pred":"T","rankscore":0.19603,"score":0.007387},"metalr":{"pred":"T","rankscore":0.23375,"score":0.0554},"metarnn":{"pred":["T","T","T","T","T"],"rankscore":0.47618,"score":[0.3007195,0.3007195,0.3007195,0.3007195,0.3007195]},"metasvm":{"pred":"T","rankscore":0.01772,"score":-1.1302},"mpc":{"rankscore":0.55401,"score":0.604791676483},"mutationassessor":{"pred":"L","rankscore":0.35949,"score":1.435},"mutationtaster":{"aae":["A8747V","A902V","A8699V","A925V","A8747V","A8699V","A8359V","A3271V"],"converted_rankscore":0.81001,"model":["without_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae"],"pred":["D","D","D","D","D","D","D","D","D"],"score":[1.0,0.999469,0.999503,0.993806,0.998502,0.999469,0.993806,0.995336,0.998851]},"mutformer":{"rankscore":0.79769,"score":0.40445423},"mutpred":{"aa_change":"A8747V","accession":"Q8NF91","pred":{"mechanism":"Gain of MoRF binding","p_val":0.1089},"rankscore":0.80199,"score":0.664},"mvp":{"rankscore":0.4014,"score":[0.40528724903,0.40528724903,0.40528724903,0.40528724903,0.40528724903]},"phactboost":{"rankscore":0.19314,"score":0.00536561180176476},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.64315,"score":0.989},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.60948,"score":4.623},"17way_primate":{"rankscore":0.7674,"score":0.676},"470way_mammalian":{"rankscore":0.506,"score":5.877}},"polyphen2":{"hdiv":{"pred":"P","rankscore":0.51142,"score":0.922},"hvar":{"pred":"P","rankscore":0.5788,"score":0.794}},"primateai":{"pred":"T","rankscore":0.5115,"score":0.587565720081},"provean":{"converted_rankscore":0.64363,"pred":["D","D","D","D"],"score":[-3.16,-3.17,-3.16,-3.17]},"ref":"G","reliability_index":10,"revel":{"rankscore":0.46781,"score":[0.19,0.19,0.19,0.19,0.19]},"sift":{"converted_rankscore":0.44694,"pred":["T","D","T","D"],"score":[0.065,0.033,0.063,0.032]},"sift4g":{"converted_rankscore":0.41573,"pred":["T","T","T","T","T"],"score":[0.148,0.14,0.082,0.145,0.082]},"siphy_29way":{"logodds_rankscore":0.64979,"logodds_score":14.1606,"pi":{"a":0.0718,"c":0.0,"g":0.9281,"t":0.0}},"tsl":[1,5,5,1,5],"uniprot":[{"acc":"Q8NF91","entry":"SYNE1_HUMAN"},{"acc":"E7ENN3","entry":"E7ENN3_HUMAN"},{"acc":"Q5JV20","entry":"Q5JV20_HUMAN"},{"acc":"A0A0C4DG40","entry":"A0A0C4DG40_HUMAN"},{"acc":"F8WAI0","entry":"F8WAI0_HUMAN"}],"varity":{"er":{"rankscore":0.42361,"score":0.18989196},"er_loo":{"rankscore":0.4236,"score":0.18989196},"r":{"rankscore":0.36988,"score":0.16649048},"r_loo":{"rankscore":0.36988,"score":0.16649048}},"vep_canonical":"YES","vest4":{"rankscore":0.48504,"score":[0.253,0.447,0.232,0.252,0.233]},"vindijia_neandertal":["G","G"]},"hg19":{"end":152443725,"start":152443725},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"27748","position":"26842"},"cds":{"length":"26394","position":"26240"},"effect":"missense_variant","feature_id":"NM_182961.3","feature_type":"transcript","gene_id":"SYNE1","genename":"SYNE1","hgvs_c":"c.26240C>T","hgvs_p":"p.Ala8747Val","protein":{"length":"8797","position":"8747"},"putative_impact":"MODERATE","rank":"146","total":"146","transcript_biotype":"protein_coding"},{"cdna":{"length":"27439","position":"26533"},"cds":{"length":"26250","position":"26096"},"effect":"missense_variant","feature_id":"NM_033071.3","feature_type":"transcript","gene_id":"SYNE1","genename":"SYNE1","hgvs_c":"c.26096C>T","hgvs_p":"p.Ala8699Val","protein":{"length":"8749","position":"8699"},"putative_impact":"MODERATE","rank":"146","total":"146","transcript_biotype":"protein_coding"},{"effect":"sequence_feature","feature_id":"NM_182961.3","feature_type":"transmembrane-region:Transmembrane_region","gene_id":"SYNE1","genename":"SYNE1","hgvs_c":"c.26240C>T","putative_impact":"LOW","rank":"146","total":"146","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_001328100.1","feature_type":"transcript","gene_id":"ESR1","genename":"ESR1","hgvs_c":"c.851-2676G>A","putative_impact":"MODIFIER","rank":"6","total":"6","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"A","position":"152443725","ref":"G"}},{"_id":"chr6:g.152443733G>A","_score":8.033225,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"A","anc":"G","annotype":"CodingTranscript","bstatistic":693,"chmm":{"bivflnk":0.0,"enh":0.071,"enhbiv":0.0,"het":0.0,"quies":0.181,"reprpc":0.0,"reprpcwk":0.008,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.504,"txflnk":0.0,"txwk":0.213,"znfrpts":0.008},"chrom":6,"consdetail":"synonymous","consequence":"SYNONYMOUS","consscore":5,"cpg":0.09,"dna":{"helt":-1.84,"mgw":-0.16,"prot":1.57,"roll":-1.04},"encode":{"exp":130.08,"h3k27ac":4.0,"h3k4me1":4.68,"h3k4me3":4.0,"nucleo":2.4},"exon":"146/146","fitcons":0.625622,"gc":0.61,"gene":{"ccds_id":"CCDS5236.2","cds":{"cdna_pos":26834,"cds_pos":26232,"rel_cdna_pos":0.97,"rel_cds_pos":0.99},"feature_id":"ENST00000367255","gene_id":"ENSG00000131018","genename":"SYNE1","prot":{"domain":"ndomain","protpos":8744,"rel_prot_pos":0.99}},"gerp":{"n":5.56,"rs":853.6,"rs_pval":6.40241e-157,"s":0.259},"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":8,"min_dist_tss":25166,"mirsvr":{"aln":145,"e":-13.64,"score":-0.417},"mutindex":-15,"naa":"V","oaa":"V","phast_cons":{"mammalian":0.994,"primate":0.968,"vertebrate":0.999},"phred":13.02,"phylop":{"mammalian":0.265,"primate":0.651,"vertebrate":0.484},"pos":152443733,"rawscore":1.445068,"ref":"G","segway":"TF0","type":"SNV"},"chrom":"6","hg19":{"end":152443733,"start":152443733},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"27748","position":"26834"},"cds":{"length":"26394","position":"26232"},"effect":"synonymous_variant","feature_id":"NM_182961.3","feature_type":"transcript","gene_id":"SYNE1","genename":"SYNE1","hgvs_c":"c.26232C>T","hgvs_p":"p.Val8744Val","protein":{"length":"8797","position":"8744"},"putative_impact":"LOW","rank":"146","total":"146","transcript_biotype":"protein_coding"},{"cdna":{"length":"27439","position":"26525"},"cds":{"length":"26250","position":"26088"},"effect":"synonymous_variant","feature_id":"NM_033071.3","feature_type":"transcript","gene_id":"SYNE1","genename":"SYNE1","hgvs_c":"c.26088C>T","hgvs_p":"p.Val8696Val","protein":{"length":"8749","position":"8696"},"putative_impact":"LOW","rank":"146","total":"146","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_001328100.1","feature_type":"transcript","gene_id":"ESR1","genename":"ESR1","hgvs_c":"c.851-2668G>A","putative_impact":"MODIFIER","rank":"6","total":"6","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"A","position":"152443733","ref":"G"}},{"_id":"chr6:g.152443778A>C","_score":8.033225,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"C","anc":"A","annotype":"CodingTranscript","bstatistic":693,"chmm":{"bivflnk":0.0,"enh":0.071,"enhbiv":0.0,"het":0.0,"quies":0.181,"reprpc":0.0,"reprpcwk":0.008,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.504,"txflnk":0.0,"txwk":0.213,"znfrpts":0.008},"chrom":6,"consdetail":"synonymous","consequence":"SYNONYMOUS","consscore":5,"cpg":0.08,"dna":{"helt":-0.55,"mgw":0.54,"prot":2.19,"roll":7.66},"encode":{"exp":100.76,"h3k27ac":5.0,"h3k4me1":2.0,"h3k4me3":4.0,"nucleo":1.7},"exon":"146/146","fitcons":0.625622,"gc":0.56,"gene":{"ccds_id":"CCDS5236.2","cds":{"cdna_pos":26789,"cds_pos":26187,"rel_cdna_pos":0.97,"rel_cds_pos":0.99},"feature_id":"ENST00000367255","gene_id":"ENSG00000131018","genename":"SYNE1","prot":{"domain":"ndomain","protpos":8729,"rel_prot_pos":0.99}},"gerp":{"n":5.56,"rs":853.6,"rs_pval":6.40241e-157,"s":5.56},"isderived":"TRUE","isknownvariant":"FALSE","istv":"TRUE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":38,"min_dist_tss":25121,"mutindex":-37,"naa":"S","oaa":"S","phast_cons":{"mammalian":1.0,"primate":0.952,"vertebrate":1.0},"phred":5.988,"phylop":{"mammalian":2.111,"primate":0.53,"vertebrate":5.051},"pos":152443778,"rawscore":0.330857,"ref":"A","segway":"TF0","type":"SNV"},"chrom":"6","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"G","codon_degeneracy":[0,0],"codonpos":[1,1],"pos":[1356,1655],"ref":"X","refcodon":["TGA","TGA"]},"alt":"C","altai_neandertal":["A","A"],"ancestral_allele":"A","bayesdel":{"add_af":{"pred":"T","rankscore":0.31588,"score":-0.12943},"no_af":{"pred":"T","rankscore":0.30653,"score":-0.423694}},"bstatistic":{"converted_rankscore":0.30165,"score":877.0},"chagyrskaya_neandertal":["A","A"],"chrom":"6","dann":{"rankscore":0.14379,"score":0.8279527821682007},"denisova":["A","A"],"eigen":{"phred_coding":4.744682,"raw_coding":0.460733215115502,"raw_coding_rankscore":0.64813},"eigen-pc":{"phred_coding":5.642181,"raw_coding":0.549386494898486,"raw_coding_rankscore":0.71354},"ensembl":{"geneid":["ENSG00000131018","ENSG00000131018"],"proteinid":["ENSP00000356226","ENSP00000356220"],"transcriptid":["ENST00000367257","ENST00000367251"]},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"D","coding_rankscore":0.92217,"coding_score":0.99167},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.33268,"coding_score":0.206414},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.81188,"score":0.709663},"h1-hesc":{"confidence_value":0,"rankscore":0.55881,"score":0.658983},"huvec":{"confidence_value":0,"rankscore":0.53088,"score":0.635551},"integrated":{"confidence_value":0,"rankscore":0.61202,"score":0.706298}},"genename":["SYNE1","SYNE1"],"genocanyon":{"rankscore":0.74766,"score":0.99999999183433},"gerp++":{"nr":5.56,"rs":5.56,"rs_rankscore":0.83678},"hg18":{"end":152485471,"start":152485471},"hg19":{"end":152443778,"start":152443778},"hg38":{"end":152122643,"start":152122643},"hgvsc":["c.4066T>G","c.4963T>G"],"hgvsp":["p.Ter1356GlyextTer70","p.Ter1655GlyextTer70","p.Ter1356Glyext*?","p.Ter1655Glyext*?"],"mutationtaster":{"converted_rankscore":0.81001,"model":["without_aae","without_aae","without_aae","without_aae","without_aae","without_aae","without_aae","without_aae","without_aae"],"pred":["D","D","D","D","D","D","D","D","D"],"score":[1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0]},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.54645,"score":0.971},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.93422,"score":9.077},"17way_primate":{"rankscore":0.94297,"score":0.756},"470way_mammalian":{"rankscore":0.88702,"score":11.192}},"ref":"A","siphy_29way":{"logodds_rankscore":0.77408,"logodds_score":15.7131,"pi":{"a":1.0,"c":0.0,"g":0.0,"t":0.0}},"tsl":[5,1],"uniprot":[{"acc":"H0Y326","entry":"H0Y326_HUMAN"},{"acc":"H0Y325","entry":"H0Y325_HUMAN"}],"vindijia_neandertal":["A","A"]},"hg19":{"end":152443778,"start":152443778},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"27748","position":"26789"},"cds":{"length":"26394","position":"26187"},"effect":"synonymous_variant","feature_id":"NM_182961.3","feature_type":"transcript","gene_id":"SYNE1","genename":"SYNE1","hgvs_c":"c.26187T>G","hgvs_p":"p.Ser8729Ser","protein":{"length":"8797","position":"8729"},"putative_impact":"LOW","rank":"146","total":"146","transcript_biotype":"protein_coding"},{"cdna":{"length":"27439","position":"26480"},"cds":{"length":"26250","position":"26043"},"effect":"synonymous_variant","feature_id":"NM_033071.3","feature_type":"transcript","gene_id":"SYNE1","genename":"SYNE1","hgvs_c":"c.26043T>G","hgvs_p":"p.Ser8681Ser","protein":{"length":"8749","position":"8681"},"putative_impact":"LOW","rank":"146","total":"146","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_001328100.1","feature_type":"transcript","gene_id":"ESR1","genename":"ESR1","hgvs_c":"c.851-2623A>C","putative_impact":"MODIFIER","rank":"6","total":"6","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"C","position":"152443778","ref":"A"}}]}