uniprotkb_accession gene_name protein_name data_source dbsnp_id cosmic_id description evidence_ECO:0000269 evidence_ECO:0000313 cytogenic_band chromosome_id position ref_allele alt_allele ref_aa alt_aa begin_aa_pos end_aa_pos frequency mutation_type polyphen_score polyphen_prediction sift_score sift_prediction somatic_status disease disease_description disease_xrefs disease_evidence_ECO:0000269 disease_evidence_ECO:0000313 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs965203080 17q11.2 17 30172593A> G null K E 2 2 missense 0.811 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs562675606 17q11.2 17 30178074A> G null K E 5 5 missense 0.964 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs562675606 17q11.2 17 30178074A> C null K Q 5 5 missense 0.615 possibly damaging 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1471378657 17q11.2 17 30178078T> C null L P 6 6 missense 1.0 probably damaging 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1005041322 17q11.2 17 30178091G> C null K N 10 10 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1375824145 17q11.2 17 30178090A> G null K R 10 10 missense 0.889 possibly damaging 0.05 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1306071001 17q11.2 17 30178098G> A null A T 13 13 missense 0.934 probably damaging 0.05 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,TOPMed,gnomAD rs200960999 17q11.2 17 30178099C> T null A V 13 13 0.0002 missense 0.984 probably damaging 0.06 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1199802386 17q11.2 17 30178102A> G null E G 14 14 missense 0.993 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs752681070 17q11.2 17 30178106T> G null D E 15 15 missense 0.975 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1005620036 17q11.2 17 30178107G> A null A T 16 16 missense 0.16 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs758277396 17q11.2 17 30178110A> G null T A 17 17 missense 0.985 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs777653699 17q11.2 17 30178117A> G null Y C 19 19 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs777653699 17q11.2 17 30178117A> T null Y F 19 19 missense 0.93 probably damaging 0.27 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs781242765 17q11.2 17 30178122T> C null Y H 21 21 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1437699720 17q11.2 17 30178127C> G null D E 22 22 missense 1.0 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1182622312 17q11.2 17 30178128A> G null S G 23 23 missense 0.872 possibly damaging 0.14 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs746016935 17q11.2 17 30178129G> A null S N 23 23 missense 0.56 possibly damaging 0.1 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1555583362 17q11.2 17 30178139T> A null D E 26 26 missense 1.0 probably damaging 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1279266473 17q11.2 17 30178137G> A null D N 26 26 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1555583365 17q11.2 17 30178140G> A null E K 27 27 missense 0.851 possibly damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1173220258 17q11.2 17 30178145G> A null M I 28 28 missense 0.268 benign 0.21 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1477194298 17q11.2 17 30178144T> A null M K 28 28 missense 0.972 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1395497464 17q11.2 17 30178146C> A null Q K 29 29 missense 0.801 possibly damaging 0.14 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143842750 17q11.2 17 30178149A> G null K E 30 30 0.000799 missense 0.577 possibly damaging 0.09 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs529982933 17q11.2 17 30178150A> G null K R 30 30 0.0002 missense 0.096 benign 0.17 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1395705345 17q11.2 17 30178155A> T null K * 32 32 stop gained 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11544945 17q11.2 17 30178156A> G null K R 32 32 0.02117 missense 0.143 benign 0.18 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs769026576 17q11.2 17 30178159A> G null E G 33 33 missense 0.914 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1328835169 17q11.2 17 30178161G> A null E K 34 34 missense 1.0 probably damaging 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,gnomAD rs566349900 17q11.2 17 30178165A> G null N S 35 35 0.0002 missense 0.005 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs762050562 17q11.2 17 30178171C> G null P R 37 37 missense 0.553 possibly damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs138098896 17q11.2 17 30178174A> C null K T 38 38 missense 0.688 possibly damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1160688451 cosmic curated [Cosmic]: autonomic_ganglia pubmed:22367537,cosmic_study:390 17q11.2 17 30178178G> T null L F 39 39 missense 0.973 probably damaging 0.02 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs968072730 17q11.2 17 30178176T> A null L M 39 39 missense 0.779 possibly damaging 0.12 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1236974549 17q11.2 17 30178186G> A null G E 42 42 missense 0.608 possibly damaging 0.06 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs776136959 17q11.2 17 30178188A> G null K E 43 43 missense 0.124 benign 0.11 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1339384456 17q11.2 17 30178193C> G null D E 44 44 missense 0.722 possibly damaging 0.19 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs759187390 17q11.2 17 30178198A> G null K R 46 46 missense 0.974 probably damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1386404119 17q11.2 17 30179091C> T null P L 47 47 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs28564040 17q11.2 17 30179094A> G null K R 48 48 0.003594 missense 0.454 possibly damaging 0.23 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs772260035 17q11.2 17 30179097A> G null Y C 49 49 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs772260035 17q11.2 17 30179097A> T null Y F 49 49 missense 0.995 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs776354605 17q11.2 17 30179099A> C null I L 50 50 missense 0.998 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1173663694 17q11.2 17 30179103A> G null H R 51 51 missense 0.783 possibly damaging 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1366669653 17q11.2 17 30179116A> C null K N 55 55 missense 0.995 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1474801002 17q11.2 17 30179121T> C null V A 57 57 missense 0.221 benign 0.94 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1165099443 17q11.2 17 30179136A> G null K R 62 62 missense 0.908 possibly damaging 0.19 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs745464588 17q11.2 17 30179141C> G null Q E 64 64 missense 0.752 possibly damaging 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs745464588 17q11.2 17 30179141C> A null Q K 64 64 missense 0.969 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1287890158 17q11.2 17 30179151G> T null R I 67 67 missense 0.998 probably damaging 0.06 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs769451191 17q11.2 17 30179153A> G null M V 68 68 missense 0.958 probably damaging 0.09 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1383144866 17q11.2 17 30179161G> C null K N 70 70 missense 0.99 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1567807214 17q11.2 17 30179166T> C null I T 72 72 missense 0.998 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs374096765 17q11.2 17 30179177C> T null R * 76 76 stop gained 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs762523200 17q11.2 17 30179178G> A null R Q 76 76 missense 0.994 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1567807225 17q11.2 17 30179181A> C null E A 77 77 missense 0.998 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs368966248 17q11.2 17 30179184T> A null M K 78 78 missense 0.285 benign 0.14 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1294047402 17q11.2 17 30179183A> G null M V 78 78 missense 0.621 possibly damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1213968038 17q11.2 17 30179186G> A null E K 79 79 missense 0.529 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1260393699 17q11.2 17 30179189A> G null K E 80 80 missense 0.627 possibly damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,gnomAD rs372734687 17q11.2 17 30179191G> T null K N 80 80 0.0002 missense 0.056 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs767158654 17q11.2 17 30179193G> A null G E 81 81 missense 0.462 possibly damaging 0.33 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1206676661 17q11.2 17 30179192G> C null G R 81 81 missense 0.987 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1485336216 17q11.2 17 30179198T> A null F I 83 83 missense 0.997 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs750680433 cosmic curated [Cosmic]: large_intestine cosmic_study:376 17q11.2 17 30179202A> C null D A 84 84 missense 0.268 benign 0.64 tolerated 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs756284687 17q11.2 17 30179208A> G null K R 86 86 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11544945 17q11.2 17 30178156A> C null K T 86 86 0.02117 missense 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs753964711 17q11.2 17 30179216T> C null F L 89 89 missense 0.985 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1403757698 17q11.2 17 30179219G> A null V M 90 90 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1567807283 17q11.2 17 30179225T> A null S T 92 92 missense 0.995 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs779542980 17q11.2 17 30179231T> C null Y H 94 94 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149526911 17q11.2 17 30179235A> C null K T 95 95 0.000998 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs777955554 17q11.2 17 30179241A> T null K I 97 97 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1357870337 17q11.2 17 30179240A> C null K Q 97 97 missense 0.999 probably damaging 0.1 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1468980485 17q11.2 17 30179253G> T null R I 101 101 missense 0.963 probably damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1412328781 17q11.2 17 30179254A> T null R S 101 101 missense 0.958 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs745547815 17q11.2 17 30179256C> T null A V 102 102 missense 0.993 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs769611082 17q11.2 17 30179258G> C null E Q 103 103 missense 0.998 probably damaging 0.05 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs775261703 17q11.2 17 30179274A> C null E A 108 108 missense 0.985 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs748866625 17q11.2 17 30179281G> T null R S 110 110 missense 0.876 possibly damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1027203393 17q11.2 17 30179282G> A null A T 111 111 missense 0.848 possibly damaging 0.25 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs774358124 17q11.2 17 30179289C> G null A G 113 113 missense 0.993 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs767376843 17q11.2 17 30179297G> A null A T 116 116 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1251439258 17q11.2 17 30180911G> C null C S 117 117 missense 0.0 benign 0.51 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1282355559 17q11.2 17 30180916G> A null D N 119 119 missense 1.0 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1375507380 17q11.2 17 30180919G> A null V I 120 120 missense 0.999 probably damaging 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs765176858 17q11.2 17 30180922A> G null T A 121 121 missense 0.992 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1296350266 17q11.2 17 30180926A> T null K M 122 122 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs753273058 17q11.2 17 30180928C> T null Q * 123 123 stop gained 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs752020771 17q11.2 17 30180936T> G null D E 125 125 missense 1.0 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs758791206 17q11.2 17 30180934G> A null D N 125 125 missense 1.0 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs758791206 cosmic curated [Cosmic]: endometrium cosmic_study:419 17q11.2 17 30180934G> T null D Y 125 125 missense 1.0 probably damaging 0.0 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1194660227 17q11.2 17 30180940A> G null S G 127 127 missense 0.995 probably damaging 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1406902705 17q11.2 17 30180941G> A null S N 127 127 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs757684820 17q11.2 17 30180953G> A null R K 131 131 missense 0.996 probably damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,gnomAD rs202058173 17q11.2 17 30180956A> G null H R 132 132 0.000399 missense 0.999 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs748888956 17q11.2 17 30180964A> G null N D 135 135 missense 0.954 probably damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1463607717 17q11.2 17 30180974T> C null V A 138 138 missense 0.96 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1370531864 17q11.2 17 30180982G> A null E K 141 141 missense 0.987 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs778242274 17q11.2 17 30180989T> C null V A 143 143 missense 0.005 benign 0.06 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1441914944 17q11.2 17 30180988G> A null V I 143 143 missense 0.003 benign 0.15 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs747663072 17q11.2 17 30180992C> T null P L 144 144 missense 1.0 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs747663072 17q11.2 17 30180992C> G null P R 144 144 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1213958963 17q11.2 17 30180999C> G null C W 146 146 missense 0.887 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1384124079 17q11.2 17 30181002C> G null S R 147 147 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1597623050 17q11.2 17 30181001G> C null S T 147 147 missense 0.994 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs773119002 17q11.2 17 30181005T> A null F L 148 148 missense 0.005 benign 0.25 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs144072900 17q11.2 17 30181006C> T null R C 149 149 missense 0.987 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201919501 17q11.2 17 30181007G> A null R H 149 149 0.0002 missense 0.42 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs776853452 17q11.2 17 30181015A> G null R G 152 152 missense 0.024 benign 0.05 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs759629179 17q11.2 17 30181016G> A null R K 152 152 missense 0.024 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1165027669 17q11.2 17 30184620G> C null G A 154 154 missense 0.001 benign 0.27 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1406078246 17q11.2 17 30184626A> C null K T 156 156 missense 0.941 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1407741265 17q11.2 17 30184632A> G null E G 158 158 missense 0.681 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs370966796 17q11.2 17 30184644G> C null G A 162 162 missense 0.339 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs370966796 17q11.2 17 30184644G> T null G V 162 162 missense 0.946 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs201551307 17q11.2 17 30184652A> G null N D 165 165 missense 0.0 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs201551307 cosmic curated [Cosmic]: endometrium cosmic_study:419 17q11.2 17 30184652A> C null N H 165 165 missense 0.084 benign 0.0 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs769963022 17q11.2 17 30184653A> G null N S 165 165 missense 0.006 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs755157083 17q11.2 17 30184656A> C null E A 166 166 missense 0.994 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs375558524 17q11.2 17 30184661A> G null S G 168 168 missense 0.0 benign 0.05 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs375558524 17q11.2 17 30184661A> C null S R 168 168 missense 0.069 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs764209337 17q11.2 17 30184668A> G null K R 170 170 missense 0.0 benign 0.65 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1346061397 17q11.2 17 30184670A> C null N H 171 171 missense 0.007 benign 0.12 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs762366162 17q11.2 17 30184672C> G null N K 171 171 missense 0.058 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1209131799 17q11.2 17 30184674G> C null R T 172 172 missense 0.702 possibly damaging 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs768102631 17q11.2 17 30184677T> C null I T 173 173 missense 0.003 benign 0.28 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1375926302 17q11.2 17 30184680C> T null P L 174 174 missense 0.005 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1486252377 17q11.2 17 30184679C> T null P S 174 174 missense 0.009 benign 0.19 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1486252377 17q11.2 17 30184679C> A null P T 174 174 missense 0.086 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs913173935 17q11.2 17 30184686A> G null E G 176 176 missense 0.118 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1189713038 17q11.2 17 30184697C> A null L I 180 180 missense 0.023 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs370384526 cosmic curated [Cosmic]: lung cosmic_study:417 17q11.2 17 30184706G> A null D N 183 183 missense 0.014 benign 0.5 tolerated 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1469872676 17q11.2 17 30184709G> A null V M 184 184 missense 0.022 benign 0.11 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1045563883 17q11.2 17 30184713A> G null K R 185 185 missense 0.154 benign 0.05 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1356622616 17q11.2 17 30184721G> A null E K 188 188 missense 0.003 benign 0.18 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs752326325 17q11.2 17 30184728C> T null P L 190 190 missense 0.904 possibly damaging 0.09 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs764863885 17q11.2 17 30184727C> T null P S 190 190 missense 0.862 possibly damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs777217408 17q11.2 17 30184734C> G null A G 192 192 missense 0.669 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1597625124 17q11.2 17 30184737A> G null D G 193 193 missense 0.996 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs746980453 17q11.2 17 30184736G> C null D H 193 193 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,gnomAD rs536310311 17q11.2 17 30184741T> A null S R 194 194 0.0002 missense 0.012 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1442542729 17q11.2 17 30184746T> A null F Y 196 196 missense 0.198 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs781089931 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 17q11.2 17 30184748G> A null D N 197 197 missense 0.048 benign 0.01 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs745710731 17q11.2 17 30184756G> C null K N 199 199 missense 0.0 benign 0.23 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs745710731 17q11.2 17 30184756G> T null K N 199 199 missense 0.0 benign 0.23 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1279976533 17q11.2 17 30184758G> A null S N 200 200 missense 0.041 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1382657594 17q11.2 17 30184761G> A null S N 201 201 missense 0.842 possibly damaging 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs775581263 17q11.2 17 30184760A> C null S R 201 201 missense 0.889 possibly damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1401108241 17q11.2 17 30184763G> A null A T 202 202 missense 0.003 benign 0.05 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148657875 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine cosmic_study:375,cosmic_study:419 17q11.2 17 30184764C> T null A V 202 202 0.0002 missense 0.012 benign 0.01 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs774610044 17q11.2 17 30184767A> G null D G 203 203 missense 0.43 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1437347100 17q11.2 17 30184766G> A null D N 203 203 missense 0.039 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs761957472 17q11.2 17 30184776T> C null I T 206 206 missense 0.003 benign 0.42 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1567809239 17q11.2 17 30184782A> T null E V 208 208 missense 0.188 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1467564210 17q11.2 17 30184803G> A null R K 215 215 missense 0.009 benign 0.42 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1467564210 17q11.2 17 30184803G> C null R T 215 215 missense 0.196 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1467766691 17q11.2 17 30184808A> G null K E 217 217 missense 0.003 benign 0.31 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs146216710 17q11.2 17 30184811G> A null V I 218 218 missense 0.0 benign 0.29 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs146216710 17q11.2 17 30184811G> C null V L 218 218 missense 0.01 benign 0.44 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1447549887 17q11.2 17 30184830A> T null N I 224 224 missense 0.0 benign 0.05 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,TOPMed,gnomAD rs374953834 17q11.2 17 30184831T> A null N K 224 224 missense 0.0 benign 0.54 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,TOPMed,gnomAD rs374953834 17q11.2 17 30184831T> G null N K 224 224 missense 0.0 benign 0.54 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs367942780 17q11.2 17 30184835T> A null F I 226 226 missense 0.001 benign 0.34 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs367942780 17q11.2 17 30184835T> C null F L 226 226 missense 0.0 benign 0.66 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs367942780 17q11.2 17 30184835T> G null F V 226 226 missense 0.0 benign 0.52 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1332730150 17q11.2 17 30184839A> G null K R 227 227 missense 0.003 benign 0.13 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1332020185 17q11.2 17 30184846C> G null H Q 229 229 missense 0.005 benign 0.1 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs763705384 17q11.2 17 30184845A> G null H R 229 229 missense 0.003 benign 0.15 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs751122250 17q11.2 17 30184860A> G null H R 234 234 missense 0.0 benign 0.14 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116966685 17q11.2 17 30184866G> A null R Q 236 236 0.01198 missense 0.001 benign 0.14 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146547631 17q11.2 17 30184865C> T null R W 236 236 0.0002 missense 0.001 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs755882248 17q11.2 17 30184874A> G null S G 239 239 missense 0.053 benign 0.13 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs755882248 17q11.2 17 30184874A> C null S R 239 239 missense 0.963 probably damaging 0.05 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1213273778 17q11.2 17 30184883A> G null R G 242 242 missense 0.001 benign 0.11 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs769044389 17q11.2 17 30184892A> G null S G 245 245 missense 0.0 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs767964691 17q11.2 17 30184893G> A null S N 245 245 missense 0.014 benign 0.1 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs748304304 17q11.2 17 30184908C> T null T M 250 250 missense 0.549 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs773603188 17q11.2 17 30184914G> T null G V 252 252 missense 0.051 benign 0.13 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs766687348 17q11.2 17 30184919C> T null R * 254 254 stop gained 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,gnomAD rs372875096 cosmic curated [Cosmic]: large_intestine cosmic_study:376 17q11.2 17 30184920G> A null R Q 254 254 missense 0.001 benign 0.2 tolerated 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed rs777094250 17q11.2 17 30184923C> T null T M 255 255 missense 0.132 benign 0.05 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs763799172 17q11.2 17 30184926C> T null S L 256 256 missense 0.0 benign 0.05 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP rs368477825 17q11.2 17 30184929G> A null R K 257 257 missense 0.001 benign 0.13 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1567809338 17q11.2 17 30184935A> G null H R 259 259 missense 0.007 benign 0.17 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1346565424 17q11.2 17 30184934C> T null H Y 259 259 missense 0.469 possibly damaging 0.16 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs761320116 17q11.2 17 30184944G> A null R K 262 262 missense 0.0 benign 0.21 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1280226476 17q11.2 17 30184946G> A null E K 263 263 missense 0.057 benign 0.1 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1332722944 17q11.2 17 30184949G> T null D Y 264 264 missense 0.011 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs750357312 17q11.2 17 30184953A> C null Q P 265 265 missense 0.0 benign 0.06 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1266289108 17q11.2 17 30184955C> T null H Y 266 266 missense 0.255 benign 0.2 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1979572 17q11.2 17 30184960G> C null Q H 267 267 0.4187 missense 0.288 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs779830066 17q11.2 17 30184961C> T null Q * 268 268 stop gained 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs753740317 17q11.2 17 30184962A> G null Q R 268 268 missense 0.01 benign 0.34 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1195728591 17q11.2 17 30184965A> G null K R 269 269 missense 0.0 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,gnomAD rs561206034 17q11.2 17 30184978C> G null D E 273 273 0.0002 missense 0.003 benign 0.36 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1415077496 17q11.2 17 30184976G> A null D N 273 273 missense 0.005 benign 0.05 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs148978796 17q11.2 17 30184979C> G null Q E 274 274 missense 0.0 benign 0.19 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs777871847 17q11.2 17 30184980A> G null Q R 274 274 missense 0.0 benign 0.14 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1451171875 17q11.2 17 30184982G> A null E K 275 275 missense 0.005 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1413226005 17q11.2 17 30184988C> G null H D 277 277 missense 0.0 benign 0.22 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1157248115 17q11.2 17 30184989A> T null H L 277 277 missense 0.01 benign 0.38 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,TOPMed,gnomAD rs147077641 17q11.2 17 30184995C> T null T I 279 279 missense 0.0 benign 0.19 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs747030474 17q11.2 17 30184994A> T null T S 279 279 missense 0.001 benign 0.13 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs187800283 17q11.2 17 30184999C> A null D E 280 280 0.000399 missense 0.1 benign 0.39 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs376766098 17q11.2 17 30185000C> T null R C 281 281 missense 0.549 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs376766098 17q11.2 17 30185000C> G null R G 281 281 missense 0.103 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs770079774 17q11.2 17 30185001G> A null R H 281 281 missense 0.005 benign 0.36 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs770079774 17q11.2 17 30185001G> T null R L 281 281 missense 0.103 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1275636693 17q11.2 17 30185007A> G null Y C 283 283 missense 0.003 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs201232538 17q11.2 17 30185010G> A null R Q 284 284 missense 0.001 benign 0.37 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs193177731 17q11.2 17 30185009C> T null R W 284 284 0.0002 missense 0.003 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1567809456 17q11.2 17 30185012A> G null K E 285 285 missense 0.003 benign 0.14 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1311441116 17q11.2 17 30185016A> G null E G 286 286 missense 0.018 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs760087006 17q11.2 17 30185015G> A null E K 286 286 missense 0.444 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs766405951 17q11.2 17 30185018A> G null R G 287 287 missense 0.0 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1182004983 17q11.2 17 30185019G> A null R K 287 287 missense 0.0 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117171982 cosmic curated [Cosmic]: pancreas pubmed:21750719,cosmic_study:429 17q11.2 17 30185021G> A null D N 288 288 0.002596 missense 0.251 benign 0.03 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1286689057 17q11.2 17 30185022A> T null D V 288 288 missense 0.618 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs778801204 17q11.2 17 30185027C> G null H D 290 290 missense 0.188 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs937176449 17q11.2 17 30185029T> A null H Q 290 290 missense 0.024 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs753000082 17q11.2 17 30185028A> G null H R 290 290 missense 0.276 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs778801204 17q11.2 17 30185027C> T null H Y 290 290 missense 0.001 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,gnomAD rs146387574 17q11.2 17 30185034A> G null H R 292 292 missense 0.025 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs777836514 17q11.2 17 30185039G> A null E K 294 294 missense 0.003 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1434639383 17q11.2 17 30185042G> T null A S 295 295 missense 0.003 benign 0.59 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1434639383 17q11.2 17 30185042G> A null A T 295 295 missense 0.001 benign 0.57 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1459845098 17q11.2 17 30185043C> T null A V 295 295 missense 0.023 benign 0.51 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1597625394 17q11.2 17 30185047T> A null S R 296 296 missense 0.005 benign 0.22 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1389932103 17q11.2 17 30185049A> G null H R 297 297 missense 0.026 benign 0.05 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1303561276 17q11.2 17 30185045_30185051du p null R K 298 298 stop gained 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1377848780 17q11.2 17 30185057T> C null S P 300 300 missense 0.559 possibly damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs12950401 17q11.2 17 30185061A> T null H L 301 301 missense 0.084 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs12950401 17q11.2 17 30185061A> G null H R 301 301 missense 0.174 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,gnomAD rs550614524 17q11.2 17 30185073A> G null H R 305 305 0.0002 missense 0.012 benign 0.19 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs12950413 17q11.2 17 30185077A> C null E D 306 306 missense 0.092 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs12947131 17q11.2 17 30185075G> A null E K 306 306 0.000599 missense 0.541 possibly damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs187315102 17q11.2 17 30185091C> T null P L 311 311 0.000799 missense 0.0 benign 0.27 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs187315102 17q11.2 17 30185091C> A null P Q 311 311 0.000799 missense 0.001 benign 0.48 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1238423620 17q11.2 17 30185096G> A null A T 313 313 missense 0.0 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs760235374 17q11.2 17 30185097C> T null A V 313 313 missense 0.01 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1433168648 17q11.2 17 30185105C> T null Q * 316 316 stop gained 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1282440002 17q11.2 17 30185112A> G null E G 318 318 missense 0.003 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs759505460 17q11.2 17 30185114A> G null R G 319 319 missense 0.003 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs765237204 17q11.2 17 30185117A> G null S G 320 320 missense 0.006 benign 0.19 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1460538053 17q11.2 17 30185120G> A null D N 321 321 missense 0.118 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1252343741 17q11.2 17 30185124G> T null R I 322 322 missense 0.927 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC rs758114727 17q11.2 17 30185126G> A null V I 323 323 missense 0.0 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1301040890 17q11.2 17 30185138G> A null E K 327 327 missense 0.007 benign 0.1 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1219546668 17q11.2 17 30185144G> A null D N 329 329 missense 0.462 possibly damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs764444794 17q11.2 17 30185150G> A null E K 331 331 missense 0.054 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed rs751669510 17q11.2 17 30185154A> G null K R 332 332 missense 0.0 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1258139812 17q11.2 17 30185163A> G null Q R 335 335 missense 0.009 benign 0.2 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1211417395 17q11.2 17 30185172A> G null Q R 338 338 missense 0.003 benign 0.84 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs745914377 17q11.2 17 30185179A> T null R S 340 340 missense 0.076 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs781203044 17q11.2 17 30185178G> C null R T 340 340 missense 0.162 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs780521815 17q11.2 17 30185181A> C null D A 341 341 missense 0.005 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs780521815 17q11.2 17 30185181A> G null D G 341 341 missense 0.001 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,gnomAD rs375254014 17q11.2 17 30185180G> C null D H 341 341 missense 0.007 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1427250030 17q11.2 17 30185183A> G null R G 342 342 missense 0.738 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1424390556 17q11.2 17 30185187A> C null Q P 343 343 missense 0.001 benign 0.24 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs749725761 17q11.2 17 30185191A> C null Q H 344 344 missense 0.0 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs746189146 17q11.2 17 30185192A> G null N D 345 345 missense 0.0 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1436651657 17q11.2 17 30185195G> T null D Y 346 346 missense 0.001 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs772930615 17q11.2 17 30185204C> T null R * 349 349 stop gained 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1436945801 17q11.2 17 30185205G> A null R Q 349 349 missense 0.009 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs746591228 17q11.2 17 30185208C> T null P L 350 350 missense 0.0 benign 0.31 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,TOPMed,gnomAD rs368129693 17q11.2 17 30185216A> G null K E 353 353 missense 0.039 benign 0.13 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1319349706 17q11.2 17 30185231G> A null E K 358 358 missense 0.003 benign 0.1 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1272180795 17q11.2 17 30185238G> A null S N 360 360 missense 0.0 benign 0.17 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs891259879 17q11.2 17 30185243G> A null A T 362 362 missense 0.003 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1567809635 17q11.2 17 30185246A> G null K E 363 363 missense 0.003 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1192216198 17q11.2 17 30185259T> C null M T 367 367 missense 0.0 benign 0.39 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs759097578 17q11.2 17 30185258A> G null M V 367 367 missense 0.0 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs765323379 17q11.2 17 30185265T> G null V G 369 369 missense 0.0 benign 0.42 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1429089479 17q11.2 17 30185264G> C null V L 369 369 missense 0.001 benign 0.25 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1193536277 17q11.2 17 30185268G> A null R K 370 370 missense 0.003 benign 0.1 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1478264019 17q11.2 17 30185273G> A null E K 372 372 missense 0.162 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1478855544 17q11.2 17 30185280A> G null Y C 374 374 missense 0.0 benign 0.11 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1406169378 17q11.2 17 30185287T> A null N K 376 376 missense 0.001 benign 0.18 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1417644208 17q11.2 17 30185294A> G null K E 379 379 missense 0.066 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs751832321 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 17q11.2 17 30185300A> G null R G 381 381 missense 0.007 benign 0.05 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs372452182 17q11.2 17 30185301G> A null R K 381 381 missense 0.012 benign 0.15 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs138101458 17q11.2 17 30185305T> G null D E 382 382 0.000998 missense 0.003 benign 0.38 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,gnomAD rs374804942 17q11.2 17 30185311A> C null E D 384 384 missense 0.146 benign 0.21 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1351514186 17q11.2 17 30185313A> G null K R 385 385 missense 0.007 benign 0.3 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115609438 17q11.2 17 30185315C> G null R G 386 386 0.004792 missense 0.0 benign 0.06 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs143123894 17q11.2 17 30185316G> A null R Q 386 386 0.003195 missense 0.0 benign 0.58 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1393117666 cosmic curated [Cosmic]: large_intestine cosmic_study:376 17q11.2 17 30185320G> T null E D 387 387 missense 0.001 benign 0.11 tolerated 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1292512448 17q11.2 17 30185321G> C null V L 388 388 missense 0.0 benign 0.4 tolerated - low confidence 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs755392730 17q11.2 17 30185325G> C null G A 389 389 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs755392730 17q11.2 17 30185325G> A null G D 389 389 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs749699044 17q11.2 17 30185324G> C null G R 389 389 missense 0.009 benign 0.0 deleterious - low confidence 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1597625683 17q11.2 17 30185327G> A null V I 390 390 missense 0.003 benign 0.46 tolerated - low confidence 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs748513327 17q11.2 17 30185333T> A null S T 392 392 missense 0.11 benign 0.23 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs200205592 17q11.2 17 30185341A> C null E D 394 394 0.000399 missense 0.341 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1597625688 17q11.2 17 30185340A> G null E G 394 394 missense 0.013 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,gnomAD rs148231103 17q11.2 17 30185339G> A null E K 394 394 0.0002 missense 0.419 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs745438267 17q11.2 17 30185343G> T null R I 395 395 missense 0.606 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs745438267 17q11.2 17 30185343G> A null R K 395 395 missense 0.007 benign 0.19 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1183786116 17q11.2 17 30185345A> G null N D 396 396 missense 0.0 benign 0.33 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1418892821 17q11.2 17 30185357A> C null K Q 400 400 missense 0.153 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs775515026 17q11.2 17 30185361A> G null E G 401 401 missense 0.026 benign 0.11 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,gnomAD rs369195228 17q11.2 17 30185370C> A null P Q 404 404 missense 0.546 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs774060605 17q11.2 17 30185372A> C null N H 405 405 missense 0.078 benign 0.1 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1340512368 17q11.2 17 30185379G> C null R T 407 407 missense 0.299 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1449530389 17q11.2 17 30185381G> T null A S 408 408 missense 0.057 benign 0.21 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs761579774 17q11.2 17 30185384A> G null K E 409 409 missense 0.018 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1377505069 17q11.2 17 30185385A> G null K R 409 409 missense 0.021 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1239881855 17q11.2 17 30185388A> G null D G 410 410 missense 0.115 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117582579 17q11.2 17 30185387G> C null D H 410 410 0.005791 missense 0.541 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117582579 17q11.2 17 30185387G> A null D N 410 410 0.005791 missense 0.006 benign 0.06 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1310446437 17q11.2 17 30185391A> G null K R 411 411 missense 0.0 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1356541985 17q11.2 17 30185393T> C null F L 412 412 missense 0.0 benign 0.71 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1417919382 17q11.2 17 30185397T> A null L H 413 413 missense 0.005 benign 0.1 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1209327451 17q11.2 17 30185396C> A null L I 413 413 missense 0.024 benign 0.05 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1209327451 17q11.2 17 30185396C> G null L V 413 413 missense 0.0 benign 0.05 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1251707388 17q11.2 17 30185403A> G null Q R 415 415 missense 0.0 benign 0.34 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs766396463 17q11.2 17 30185409G> A null R K 417 417 missense 0.0 benign 0.48 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1597625772 17q11.2 17 30185431G> C null M I 424 424 missense 0.0 benign 0.16 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs753063662 17q11.2 17 30185429A> G null M V 424 424 missense 0.0 benign 0.46 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1291456458 17q11.2 17 30185432G> C null A P 425 425 missense 0.0 benign 0.05 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1452543134 17q11.2 17 30185437G> C null K N 426 426 missense 0.386 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs141753156 17q11.2 17 30185447A> G null R G 430 430 missense 0.001 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1415694563 17q11.2 17 30185448G> C null R T 430 430 missense 0.039 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs780996736 17q11.2 17 30185451A> G null N S 431 431 missense 0.006 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1415508168 17q11.2 17 30185454A> G null Q R 432 432 missense 0.001 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed rs745462894 17q11.2 17 30185463C> T null P L 435 435 missense 0.0 benign 0.18 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1253838206 17q11.2 17 30185466C> T null S F 436 436 missense 0.498 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs866042181 17q11.2 17 30185472C> T null S F 438 438 missense 0.365 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1379537386 17q11.2 17 30185476A> T null E D 439 439 missense 0.009 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,TOPMed,gnomAD rs373476348 17q11.2 17 30185475A> G null E G 439 439 missense 0.006 benign 0.12 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,TOPMed,gnomAD rs373476348 17q11.2 17 30185475A> T null E V 439 439 missense 0.112 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1231475063 17q11.2 17 30185478C> T null S L 440 440 missense 0.0 benign 0.18 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1291054838 17q11.2 17 30185481C> T null S L 441 441 missense 0.003 benign 0.23 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs779393708 17q11.2 17 30185483C> A null L M 442 442 missense 0.459 possibly damaging 0.13 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs779393708 17q11.2 17 30185483C> G null L V 442 442 missense 0.039 benign 0.28 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs748803640 17q11.2 17 30185487G> A null G E 443 443 missense 0.03 benign 0.25 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs748803640 17q11.2 17 30185487G> T null G V 443 443 missense 0.357 benign 0.05 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs200921290 17q11.2 17 30185499G> A null R K 447 447 0.0002 missense 0.009 benign 0.31 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs200921290 17q11.2 17 30185499G> C null R T 447 447 0.0002 missense 0.084 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs760846065 17q11.2 17 30185502T> A null L H 448 448 missense 0.003 benign 0.15 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,gnomAD rs372340051 17q11.2 17 30185508A> G null E G 450 450 missense 0.042 benign 0.14 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs753912294 17q11.2 17 30185510G> A null E K 451 451 missense 0.003 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1378138303 17q11.2 17 30185514G> A null G E 452 452 missense 0.0 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs146235514 17q11.2 17 30185513G> A null G R 452 452 missense 0.0 benign 0.71 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs146235514 17q11.2 17 30185513G> C null G R 452 452 missense 0.0 benign 0.71 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs758847520 17q11.2 17 30185523A> T null K M 455 455 missense 0.001 benign 0.23 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs778237398 17q11.2 17 30185529A> G null K R 457 457 missense 0.003 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1332989910 17q11.2 17 30185534C> A null Q K 459 459 missense 0.01 benign 0.1 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1463345116 17q11.2 17 30185538A> G null E G 460 460 missense 0.026 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1391773763 17q11.2 17 30185537G> C null E Q 460 460 missense 0.617 possibly damaging 0.38 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs755875308 17q11.2 17 30185544C> T null P L 462 462 missense 0.001 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs371790916 17q11.2 17 30185547C> T null P L 463 463 missense 0.003 benign 0.05 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1332248439 17q11.2 17 30185555G> A null V M 466 466 missense 0.039 benign 0.42 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1567809892 17q11.2 17 30185563G> T null K N 468 468 missense 0.061 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs779739700 17q11.2 17 30185565T> C null F S 469 469 missense 0.184 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs866668828 17q11.2 17 30185568C> A null A E 470 470 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs778726681 17q11.2 17 30185574G> A null R Q 472 472 missense 0.084 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs377148450 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 17q11.2 17 30185573C> T null R W 472 472 missense 0.045 benign 0.0 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs369889777 17q11.2 17 30185580A> G null N S 474 474 missense 0.007 benign 0.28 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs746784442 17q11.2 17 30185586A> G null E G 476 476 missense 0.255 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1477875611 17q11.2 17 30185595T> C null M T 479 479 missense 0.0 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs771118226 17q11.2 17 30185594A> G null M V 479 479 missense 0.003 benign 0.05 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs776908088 17q11.2 17 30185618G> T null A S 487 487 missense 0.859 possibly damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs759541223 17q11.2 17 30185629G> A null M I 490 490 missense 0.145 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1475231575 17q11.2 17 30185627A> G null M V 490 490 missense 0.292 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs572953048 17q11.2 17 30185631C> T null A V 491 491 0.0002 missense 0.978 probably damaging 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs559964855 cosmic curated [Cosmic]: prostate cosmic_study:435 17q11.2 17 30185634G> T null R L 492 492 missense 0.94 probably damaging 0.0 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs559964855 17q11.2 17 30185634G> A null R Q 492 492 missense 0.44 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs543227737 17q11.2 17 30185633C> T null R W 492 492 missense 0.197 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1340390424 17q11.2 17 30185637T> G null V G 493 493 missense 0.086 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1400695653 17q11.2 17 30185639A> G null N D 494 494 missense 0.169 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1338983709 17q11.2 17 30185645A> G null K E 496 496 missense 0.039 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1265855184 17q11.2 17 30185652A> G null Y C 498 498 missense 0.026 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs765948540 17q11.2 17 30185654A> G null I V 499 499 missense 0.033 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1447258866 17q11.2 17 30185661A> G null K R 501 501 missense 0.046 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs753470842 17q11.2 17 30185668T> A null D E 503 503 missense 0.001 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,gnomAD rs540335133 17q11.2 17 30185667A> G null D G 503 503 0.0002 missense 0.003 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1214090837 17q11.2 17 30185672T> A null * R 505 505 stop lost 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs201302366 5p15.33 5 306613C> T null R C 4 4 0.001398 missense 0.955 probably damaging 0.01 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs776970258 5p15.33 5 306614G> A null R H 4 4 missense 0.037 benign 0.12 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs776970258 5p15.33 5 306614G> T null R L 4 4 missense 0.258 benign 0.07 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs201302366 5p15.33 5 306613C> A null R S 4 4 0.001398 missense 0.159 benign 0.22 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1341660631 5p15.33 5 306619A> G null N D 6 6 missense 0.026 benign 0.08 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs765680201 5p15.33 5 306626C> T null A V 8 8 missense 0.044 benign 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c Ensembl rs1244037334 cosmic curated [Cosmic]: large_intestine cosmic_study:376 5p15.33 5 306628G> A null G S 9 9 missense 0.015 benign 0.15 tolerated 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs766012558 5p15.33 5 306631G> A null V M 10 10 missense 0.2 benign 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c Ensembl rs1560860970 5p15.33 5 306641G> C null S T 13 13 missense 0.001 benign 0.1 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs772839574 5p15.33 5 306643G> A null E K 14 14 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs751042838 5p15.33 5 306650C> T null T M 16 16 missense 0.007 benign 0.03 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs145515975 5p15.33 5 306653G> A null G D 17 17 0.0002 missense 0.388 benign 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,gnomAD rs1259286633 5p15.33 5 306655G> C null V L 18 18 missense 0.003 benign 1.0 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,gnomAD rs1259286633 5p15.33 5 306655G> A null V M 18 18 missense 0.416 benign 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,TOPMed,gnomAD rs372244838 5p15.33 5 306671C> T null T M 23 23 missense 0.288 benign 0.02 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1363410033 5p15.33 5 306675C> G null D E 24 24 missense 0.028 benign 0.09 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs752564923 5p15.33 5 306679C> G null Q E 26 26 missense 0.133 benign 0.01 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs777478206 5p15.33 5 306685G> T null V F 28 28 missense 0.795 possibly damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs777478206 5p15.33 5 306685G> A null V I 28 28 missense 0.003 benign 0.13 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,gnomAD rs1044096810 5p15.33 5 306690C> G null F L 29 29 missense 0.999 probably damaging 0.01 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,gnomAD rs1044096810 5p15.33 5 306690C> A null F L 29 29 missense 0.999 probably damaging 0.01 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs758565797 5p15.33 5 306691C> T null R C 30 30 missense 0.407 benign 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs111451538 5p15.33 5 306692G> A null R H 30 30 0.000399 missense 0.361 benign 0.02 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs758565797 5p15.33 5 306691C> A null R S 30 30 missense 0.501 possibly damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs761977523 5p15.33 5 306694A> G null T A 31 31 missense 0.003 benign 0.41 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs545985005 5p15.33 5 306695C> T null T M 31 31 missense 0.262 benign 0.07 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs773665840 5p15.33 5 306698A> G null Y C 32 32 missense 0.333 benign 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs770749524 5p15.33 5 306701A> G null D G 33 33 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed rs1004444042 5p15.33 5 306700G> A null D N 33 33 missense 0.992 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1485901510 5p15.33 5 306704G> A null R Q 34 34 missense 0.116 benign 0.18 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs186610320 5p15.33 5 306703C> T null R W 34 34 0.0002 missense 0.987 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs759143857 5p15.33 5 306707A> G null D G 35 35 missense 0.996 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs377279142 5p15.33 5 306715G> A null G R 38 38 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1381059532 5p15.33 5 306718A> C null M L 39 39 missense 0.0 benign 0.27 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs191142207 5p15.33 5 306723C> G null I M 40 40 0.000599 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed rs1027974918 5p15.33 5 306722T> C null I T 40 40 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,gnomAD rs919592414 5p15.33 5 306724G> A null D N 41 41 missense 0.639 possibly damaging 0.04 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1393884956 5p15.33 5 306735G> T null E D 44 44 missense 0.975 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs751714208 5p15.33 5 306733G> A null E K 44 44 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs755147828 5p15.33 5 306743A> C null Q P 47 47 missense 0.713 possibly damaging 0.13 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs755147828 5p15.33 5 306743A> G null Q R 47 47 missense 0.042 benign 0.28 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,gnomAD rs1437179325 5p15.33 5 306745G> C null A P 48 48 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,gnomAD rs1437179325 5p15.33 5 306745G> A null A T 48 48 missense 0.993 probably damaging 0.01 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs369997630 5p15.33 5 306748C> T null L F 49 49 missense 0.855 possibly damaging 0.14 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs369997630 5p15.33 5 306748C> G null L V 49 49 missense 0.866 possibly damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1305603346 5p15.33 5 306754G> T null G C 51 51 missense 0.078 benign 0.01 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1312655647 5p15.33 5 306758T> G null F C 52 52 missense 0.982 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs562736743 5p15.33 5 306759C> G null F L 52 52 0.0002 missense 0.054 benign 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs373052818 cosmic curated [Cosmic]: large_intestine pubmed:22810696,cosmic_study:376 5p15.33 5 306760G> A null G S 53 53 missense 0.999 probably damaging 0.0 deleterious 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs776613586 5p15.33 5 311299G> T null R L 55 55 missense 0.12 benign 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs776613586 5p15.33 5 311299G> A null R Q 55 55 missense 0.009 benign 0.02 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1416762592 5p15.33 5 311298C> T null R W 55 55 missense 0.722 possibly damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1166624323 5p15.33 5 311301C> A null L I 56 56 missense 0.902 possibly damaging 0.02 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,gnomAD rs1179587118 5p15.33 5 311302T> C null L P 56 56 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1350026839 5p15.33 5 311305C> G null S C 57 57 missense 0.672 possibly damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c Ensembl rs1579556841 5p15.33 5 311310C> T null Q * 59 59 stop gained 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed rs1451981309 5p15.33 5 311319G> T null D Y 62 62 missense 0.343 benign 0.01 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,gnomAD rs1363927572 5p15.33 5 311331C> T null R * 66 66 stop gained 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs772846590 5p15.33 5 311332G> T null R L 66 66 missense 0.006 benign 0.05 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs772846590 5p15.33 5 311332G> A null R Q 66 66 missense 0.001 benign 0.56 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145654625 5p15.33 5 311337T> C null F L 68 68 0.0002 missense 0.88 possibly damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1355076299 5p15.33 5 311341A> G null D G 69 69 missense 0.849 possibly damaging 0.04 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c Ensembl rs1032938242 5p15.33 5 311343A> T null R W 70 70 missense 0.989 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs183545231 5p15.33 5 311353G> A null R Q 73 73 0.0002 missense 0.03 benign 0.27 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs767684079 cosmic curated [Cosmic]: large_intestine cosmic_study:376 5p15.33 5 311352C> T null R W 73 73 missense 0.85 possibly damaging 0.01 deleterious 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,gnomAD rs996549656 5p15.33 5 311364G> A null A T 77 77 missense 0.018 benign 1.0 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs757656555 5p15.33 5 311365C> T null A V 77 77 missense 0.089 benign 0.17 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs779736494 5p15.33 5 311372C> A null D E 79 79 missense 0.878 possibly damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs368897410 5p15.33 5 311370G> C null D H 79 79 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs368897410 5p15.33 5 311370G> A null D N 79 79 missense 0.996 probably damaging 0.01 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,gnomAD rs1378816110 5p15.33 5 311373G> A null D N 80 80 missense 0.852 possibly damaging 0.23 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c Ensembl rs1560865553 5p15.33 5 311379A> T null I F 82 82 missense 0.968 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs746657841 5p15.33 5 311389G> T null C F 85 85 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed rs1029082968 5p15.33 5 311391A> G null I V 86 86 missense 0.0 benign 1.0 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs371288200 5p15.33 5 311394G> A null V I 87 87 missense 0.014 benign 0.03 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1156261478 5p15.33 5 311400C> T null Q * 89 89 stop gained 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed rs1294369854 5p15.33 5 311402G> T null Q H 89 89 missense 0.009 benign 0.16 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs201782998 5p15.33 5 314418G> A null R K 90 90 missense 0.0 benign 0.21 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs774240050 5p15.33 5 314421T> C null L S 91 91 missense 0.88 possibly damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs761008685 5p15.33 5 314424C> T null T M 92 92 missense 0.988 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1437589086 5p15.33 5 314431A> G null I M 94 94 missense 0.148 benign 0.02 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c Ensembl rs909500893 5p15.33 5 314429A> G null I V 94 94 missense 0.0 benign 0.16 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs201011657 5p15.33 5 314438C> T null R C 97 97 missense 0.768 possibly damaging 0.03 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139334790 cosmic curated [Cosmic]: large_intestine cosmic_study:376 5p15.33 5 314439G> A null R H 97 97 0.000399 missense 0.017 benign 0.06 tolerated 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139334790 5p15.33 5 314439G> T null R L 97 97 0.000399 missense 0.031 benign 0.04 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs201011657 5p15.33 5 314438C> A null R S 97 97 missense 0.048 benign 0.12 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed rs1452552006 5p15.33 5 314441T> C null Y H 98 98 missense 0.005 benign 0.53 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes rs149412009 5p15.33 5 314444G> A null D N 99 99 0.0002 missense 0.866 possibly damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs763389359 5p15.33 5 314448C> T null T M 100 100 missense 0.184 benign 0.01 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs751964638 5p15.33 5 314450G> C null D H 101 101 missense 0.04 benign 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs751964638 5p15.33 5 314450G> A null D N 101 101 missense 0.003 benign 0.16 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed rs144783509 5p15.33 5 314458C> A null D E 103 103 0.0002 missense 0.017 benign 0.01 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed rs1233702405 5p15.33 5 314460G> C null G A 104 104 missense 0.956 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,gnomAD rs369618664 5p15.33 5 314462T> C null W R 105 105 missense 0.0 benign 0.19 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1407999951 5p15.33 5 314475C> T null S L 109 109 missense 0.5 possibly damaging 0.04 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs370878298 5p15.33 5 314480G> A null E K 111 111 missense 0.921 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c Ensembl rs1560868344 5p15.33 5 314496T> C null M T 116 116 missense 0.313 benign 0.2 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138896105 5p15.33 5 314495A> G null M V 116 116 0.000399 missense 0.025 benign 0.05 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs770951720 5p15.33 5 314498G> A null V I 117 117 missense 0.014 benign 0.07 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed rs1308659459 5p15.33 5 314501T> G null F V 118 118 missense 0.804 possibly damaging 0.01 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs778962868 5p15.33 5 314504A> G null S G 119 119 missense 0.005 benign 0.07 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs745705216 5p15.33 5 314510G> A null V I 121 121 missense 0.003 benign 0.03 deleterious - low confidence 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed,gnomAD rs1002689539 10q21.2 10 60780179C> A null T N 5 5 missense 0.007 benign 0.14 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a Ensembl rs1035478197 10q21.2 10 60780184A> T null I L 7 7 missense 0.017 benign 0.73 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed rs1468681761 10q21.2 10 60780185T> C null I T 7 7 missense 0.571 possibly damaging 0.02 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1179034229 10q21.2 10 60780195T> G null I M 10 10 missense 0.807 possibly damaging 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs745479111 10q21.2 10 60780194T> C null I T 10 10 missense 0.765 possibly damaging 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1201393937 10q21.2 10 60784708C> G null T S 14 14 missense 0.157 benign 0.01 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed,gnomAD rs1403343549 10q21.2 10 60784712T> A null Y * 15 15 stop gained 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed rs1335188877 10q21.2 10 60784729G> C null G A 21 21 missense 0.101 benign 1.0 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC rs111992007 10q21.2 10 60784735A> G null H R 23 23 missense 0.274 benign 0.01 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs745660582 10q21.2 10 60784740A> C null T P 25 25 missense 0.056 benign 0.27 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ESP,TOPMed rs377117179 10q21.2 10 60784750A> G null Q R 28 28 missense 0.003 benign 0.83 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a Ensembl rs754755265 10q21.2 10 60784752G> T null V L 29 29 missense 0.0 benign 0.53 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs771969255 10q21.2 10 60784755G> T null V L 30 30 missense 0.592 possibly damaging 0.03 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed rs1370963471 10q21.2 10 60784783G> A null S N 39 39 missense 0.003 benign 0.4 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs746720738 10q21.2 10 60784785G> A null E K 40 40 missense 0.692 possibly damaging 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1297673130 10q21.2 10 60784797G> A null V I 44 44 missense 0.094 benign 0.29 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs768015814 10q21.2 10 60784806A> T null T S 47 47 missense 0.998 probably damaging 0.01 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1454245611 10q21.2 10 60784809G> A null A T 48 48 missense 0.983 probably damaging 0.07 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ESP,ExAC,gnomAD rs142650572 10q21.2 10 60784812A> G null I V 49 49 missense 0.005 benign 0.08 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed rs1312102931 cosmic curated [Cosmic]: endometrium cosmic_study:419 10q21.2 10 60784815C> T null R W 50 50 missense 1.0 probably damaging 0.01 deleterious 1 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed,gnomAD rs1323937308 10q21.2 10 60784821A> G null I V 52 52 missense 0.051 benign 0.05 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1230964680 10q21.2 10 60784836G> C null E Q 57 57 missense 0.956 probably damaging 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed rs1173075218 10q21.2 10 60784839C> A null L I 58 58 missense 0.92 probably damaging 0.04 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs8755 10q21.2 10 60784842C> T null R C 59 59 missense 0.311 benign 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs8755 10q21.2 10 60784842C> G null R G 59 59 missense 0.023 benign 0.03 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs773501650 10q21.2 10 60784843G> A null R H 59 59 missense 0.0 benign 0.22 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1238716954 10q21.2 10 60784848C> T null P S 61 61 missense 0.154 benign 0.04 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1460089100 10q21.2 10 60785665C> T null L F 66 66 missense 0.593 possibly damaging 0.01 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs768316764 10q21.2 10 60785673T> A null D E 68 68 missense 0.025 benign 0.1 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs985951399 10q21.2 10 60785674G> A null V M 69 69 missense 0.968 probably damaging 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs780626115 10q21.2 10 60785677C> T null L F 70 70 missense 0.517 possibly damaging 0.01 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a Ensembl rs11540347 10q21.2 10 60785683C> T null Q * 72 72 stop gained 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs747663798 10q21.2 10 60785688T> G null D E 73 73 missense 0.005 benign 1.0 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a Ensembl rs1589111889 10q21.2 10 60785743G> T null D Y 92 92 missense 0.994 probably damaging 0.01 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs771169549 10q21.2 10 60785763G> C null Q H 98 98 missense 0.003 benign 0.15 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a Ensembl rs374332309 10q21.2 10 60785767A> G null M V 100 100 missense 0.001 benign 0.02 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs759629291 10q21.2 10 60785770G> T null D Y 101 101 missense 0.418 benign 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1465016560 10q21.2 10 60785783T> C null V A 105 105 missense 0.105 benign 0.04 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs761017140 10q21.2 10 60788061G> A null S N 107 107 missense 0.609 possibly damaging 0.06 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1482350274 10q21.2 10 60788082A> G null Q R 114 114 missense 0.027 benign 0.4 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed rs1261981012 10q21.2 10 60788102T> G null S A 121 121 missense 0.003 benign 0.27 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs199958833 10q21.2 10 60788112T> G null V G 124 124 missense 0.922 probably damaging 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs563327821 10q21.2 10 60788154A> T null D V 138 138 0.0002 missense 0.003 benign 0.18 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs767353239 10q21.2 10 60788156A> C null K Q 139 139 missense 0.007 benign 0.26 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs752316620 10q21.2 10 60788163C> T null T I 141 141 missense 0.0 benign 0.41 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed,gnomAD rs1397780496 10q21.2 10 60788165A> G null I V 142 142 missense 0.062 benign 0.07 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1287451334 10q21.2 10 60788195G> A null A T 152 152 missense 0.193 benign 0.07 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,TOPMed,gnomAD rs748844693 10q21.2 10 60788210A> G null I V 157 157 missense 0.0 benign 1.0 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs756782434 10q21.2 10 60788225C> T null H Y 162 162 missense 0.106 benign 0.02 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs759513279 10q21.2 10 60791930G> C null G A 177 177 missense 0.977 probably damaging 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs767261283 10q21.2 10 60791936C> G null A G 179 179 missense 0.062 benign 0.03 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1322570597 10q21.2 10 60791938C> T null R C 180 180 missense 0.742 possibly damaging 0.1 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs45540532 cosmic curated [Cosmic]: large_intestine cosmic_study:376 10q21.2 10 60791939G> A null R H 180 180 0.0002 missense 0.018 benign 0.68 tolerated 1 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs45540532 10q21.2 10 60791939G> T null R L 180 180 0.0002 missense 0.007 benign 0.32 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed rs1234513195 10q21.2 10 60791954T> C null V A 185 185 missense 0.291 benign 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,TOPMed,gnomAD rs753490763 10q21.2 10 60791977A> G null I V 193 193 missense 0.769 possibly damaging 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,TOPMed,gnomAD rs756767206 10q21.2 10 60791989C> A null L I 197 197 missense 0.003 benign 0.05 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a Ensembl rs944914584 10q21.2 10 60792046A> G null I V 216 216 missense 0.031 benign 0.05 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs764750612 10q21.2 10 60792169T> G null N K 225 225 missense 0.149 benign 0.02 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1408749415 10q21.2 10 60792174T> G null V G 227 227 missense 0.194 benign 0.07 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs749964005 10q21.2 10 60792173G> A null V M 227 227 missense 0.04 benign 0.16 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ESP,gnomAD rs373718394 10q21.2 10 60792195T> C null L S 234 234 missense 0.976 probably damaging 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed rs1271439313 10q21.2 10 60792197C> G null Q E 235 235 missense 0.013 benign 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed rs1198047745 cosmic curated [Cosmic]: endometrium cosmic_study:419 10q21.2 10 60792208G> T null K N 238 238 missense 0.362 benign 0.06 tolerated 1 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1342614799 10q21.2 10 60792210A> G null N S 239 239 missense 0.001 benign 1.0 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs755351843 10q21.2 10 60792229A> T null K N 245 245 missense 0.003 benign 0.25 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,TOPMed,gnomAD rs748366106 10q21.2 10 60792237G> A null S N 248 248 missense 0.003 benign 0.72 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1208109737 10q21.2 10 60792242G> A null A T 250 250 missense 0.005 benign 0.33 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed rs1373397632 10q21.2 10 60792243C> T null A V 250 250 missense 0.003 benign 0.15 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a Ensembl rs113211927 10q21.2 10 60792245T> A null S T 251 251 missense 0.001 benign 0.48 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367855803 10q21.2 10 60792250T> A null H Q 252 252 0.0002 missense 0.005 benign 0.38 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed,gnomAD rs755852078 10q21.2 10 60792271T> G null N K 259 259 missense 0.0 benign 0.66 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,TOPMed,gnomAD rs749375137 10q21.2 10 60792288C> T null S L 265 265 missense 0.0 benign 0.19 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed rs1386995645 10q21.2 10 60793890A> G null Y C 270 270 missense 0.998 probably damaging 0.02 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a Ensembl rs1589115619 10q21.2 10 60793902A> G null K R 274 274 missense 0.001 benign 0.37 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ESP,gnomAD rs142476851 10q21.2 10 60793908T> C null I T 276 276 missense 0.985 probably damaging 0.01 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs35671174 10q21.2 10 60793917A> G null K R 279 279 missense 0.007 benign 0.3 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs777969351 10q21.2 10 60793929A> G null N S 283 283 missense 0.003 benign 0.71 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1382290424 10q21.2 10 60793935C> T null P L 285 285 missense 0.235 benign 0.02 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a Ensembl rs11540348 10q21.2 10 60793943A> G null N D 288 288 missense 0.0 benign 1.0 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1260427336 10q21.2 10 60793952G> T null D Y 291 291 missense 0.819 possibly damaging 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1388236578 10q21.2 10 60793955A> G null N D 292 292 missense 0.0 benign 0.53 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1388236578 10q21.2 10 60793955A> C null N H 292 292 missense 0.0 benign 0.17 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed rs1162806554 10q21.2 10 60793956A> G null N S 292 292 missense 0.0 benign 0.65 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1321577231 6p24.3 6 8430048T> C null N S 6 6 missense 0.001 benign 0.12 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs775155225 6p24.3 6 8430040T> C null R G 9 9 missense 0.003 benign 0.18 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1383314040 6p24.3 6 8430037T> C null K E 10 10 missense 0.091 benign 0.02 deleterious - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs767415866 6p24.3 6 8430036T> G null K T 10 10 missense 0.468 possibly damaging 0.01 deleterious - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs759459928 6p24.3 6 8430032A> C null Y * 11 11 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1357661654 6p24.3 6 8430033T> C null Y C 11 11 missense 0.527 possibly damaging 0.09 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1191834197 6p24.3 6 8430022T> A null T S 15 15 missense 0.003 benign 0.87 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1218260045 6p24.3 6 8430018A> G null V A 16 16 missense 0.039 benign 0.02 deleterious - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,gnomAD rs550117055 6p24.3 6 8430019C> T null V M 16 16 0.0002 missense 0.014 benign 0.02 deleterious - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs770966789 6p24.3 6 8430010T> C null K E 19 19 missense 0.052 benign 0.15 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs146380653 6p24.3 6 8430002T> G null Q H 21 21 missense 0.0 benign 0.1 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs776313854 6p24.3 6 8430001T> C null T A 22 22 missense 0.0 benign 0.76 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs769923765 6p24.3 6 8429998T> C null M V 23 23 missense 0.011 benign 0.15 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1232953560 6p24.3 6 8429995A> T null S T 24 24 missense 0.039 benign 0.17 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1271544234 6p24.3 6 8429988T> C null H R 26 26 missense 0.147 benign 0.19 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs748468172 6p24.3 6 8429979G> A null S L 29 29 missense 0.011 benign 0.03 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs781394644 6p24.3 6 8429974C> G null D H 31 31 missense 0.336 benign 0.06 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs781394644 6p24.3 6 8429974C> T null D N 31 31 missense 0.048 benign 0.32 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs371562817 6p24.3 6 8429971C> T null D N 32 32 missense 0.211 benign 0.03 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1474587073 6p24.3 6 8429967A> G null V A 33 33 missense 0.031 benign 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1474587073 6p24.3 6 8429967A> T null V D 33 33 missense 0.192 benign 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141964463 6p24.3 6 8429968C> T null V I 33 33 0.000399 missense 0.0 benign 0.91 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1241233616 6p24.3 6 8429962C> T null V I 35 35 missense 0.054 benign 0.78 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs753410372 6p24.3 6 8429959G> A null L F 36 36 missense 0.18 benign 0.1 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1278137628 6p24.3 6 8429955C> T null G D 37 37 missense 0.945 probably damaging 0.57 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs969026360 6p24.3 6 8429951C> T null M I 38 38 missense 0.0 benign 1.0 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP rs376659169 6p24.3 6 8429943C> A null S I 41 41 missense 0.467 possibly damaging 0.04 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs755719090 6p24.3 6 8429941T> C null K E 42 42 missense 0.007 benign 0.69 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1212440197 6p24.3 6 8429936A> T null F L 43 43 missense 0.001 benign 0.58 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,TOPMed,gnomAD rs201086048 6p24.3 6 8429931T> C null K R 45 45 0.0002 missense 0.001 benign 0.64 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,TOPMed,gnomAD rs201086048 6p24.3 6 8429931T> G null K T 45 45 0.0002 missense 0.003 benign 0.29 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs866436116 6p24.3 6 8429929G> A null L F 46 46 missense 0.001 benign 0.7 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs759366208 6p24.3 6 8429928A> T null L H 46 46 missense 0.312 benign 0.54 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed rs766329109 6p24.3 6 8429923G> A null Q * 48 48 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed rs766329109 6p24.3 6 8429923G> C null Q E 48 48 missense 0.888 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs202129168 6p24.3 6 8429922T> G null Q P 48 48 missense 0.987 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs202129168 6p24.3 6 8429922T> C null Q R 48 48 missense 0.928 probably damaging 0.04 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs769972205 6p24.3 6 8429914T> G null I L 51 51 missense 0.037 benign 0.56 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs866348642 6p24.3 6 8429910C> A null C F 52 52 missense 0.973 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs866348642 6p24.3 6 8429910C> T null C Y 52 52 missense 0.99 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1409377975 6p24.3 6 8429868A> C null L * 66 66 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1168371677 6p24.3 6 8429866G> A null Q * 67 67 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs780769115 6p24.3 6 8428058C> T null E K 68 68 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs754632276 6p24.3 6 8428043C> T null V M 73 73 missense 0.026 benign 0.28 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs751281602 6p24.3 6 8428039T> C null E G 74 74 missense 0.071 benign 0.06 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1581262764 6p24.3 6 8428040C> T null E K 74 74 missense 0.14 benign 0.11 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs758226161 6p24.3 6 8428037C> T null G S 75 75 missense 0.994 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs750284085 6p24.3 6 8428034A> G null F L 76 76 missense 0.267 benign 0.11 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs138204292 6p24.3 6 8428033A> G null F S 76 76 missense 0.978 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs138204292 6p24.3 6 8428033A> T null F Y 76 76 missense 0.733 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1581262695 6p24.3 6 8428027G> A null S F 78 78 missense 0.793 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1284454918 6p24.3 6 8428028A> G null S P 78 78 missense 0.0 benign 1.0 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1487119062 6p24.3 6 8428025A> G null C R 79 79 missense 0.0 benign 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs372940131 6p24.3 6 8428024C> T null C Y 79 79 missense 0.0 benign 1.0 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1262930903 6p24.3 6 8428021C> A null G V 80 80 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs200429479 6p24.3 6 8428017C> T null W * 81 81 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs764335719 6p24.3 6 8428018C> T null W * 81 81 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs200429479 6p24.3 6 8428017C> A null W C 81 81 missense 0.99 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs764335719 6p24.3 6 8428018C> G null W S 81 81 missense 0.979 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs774675272 6p24.3 6 8428014G> T null Y * 82 82 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs774675272 6p24.3 6 8428014G> C null Y * 82 82 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1236616659 6p24.3 6 8428015T> C null Y C 82 82 missense 0.994 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs759977461 6p24.3 6 8428016A> C null Y D 82 82 missense 0.988 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs759977461 6p24.3 6 8428016A> T null Y N 82 82 missense 0.983 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs771486685 cosmic curated [Cosmic]: breast pubmed:22722201,cosmic_study:385 6p24.3 6 8428013G> A null L F 83 83 missense 0.995 probably damaging 0.0 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs747547737 6p24.3 6 8428010T> C null T A 84 84 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs768201981 6p24.3 6 8428003A> G null V A 86 86 missense 0.755 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1286903715 6p24.3 6 8428001G> A null Q * 87 87 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,gnomAD rs200049584 6p24.3 6 8428000T> G null Q P 87 87 0.0002 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1581262506 6p24.3 6 8427988T> A null Y F 91 91 missense 0.995 probably damaging 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs779708076 6p24.3 6 8427986A> G null S P 92 92 missense 0.99 probably damaging 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs758075645 6p24.3 6 8427983T> C null I V 93 93 missense 0.009 benign 0.61 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs757213109 6p24.3 6 8427970A> G null I T 97 97 missense 0.142 benign 0.06 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1455268111 6p24.3 6 8427971T> C null I V 97 97 missense 0.009 benign 0.66 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs753774868 6p24.3 6 8427967T> G null E A 98 98 missense 0.951 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,gnomAD rs535191243 6p24.3 6 8427965G> A null L F 99 99 0.0002 missense 0.908 possibly damaging 0.7 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1185160530 6p24.3 6 8427960C> G null Q H 100 100 missense 0.95 probably damaging 0.52 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1185160530 6p24.3 6 8427960C> A null Q H 100 100 missense 0.95 probably damaging 0.52 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1390025524 6p24.3 6 8427948G> T null D E 104 104 missense 0.179 benign 0.5 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1485799904 6p24.3 6 8427950C> T null D N 104 104 missense 0.179 benign 0.29 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141256356 6p24.3 6 8427946T> C null K R 105 105 0.000799 missense 0.02 benign 0.38 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1213691857 6p24.3 6 8427940C> T null R K 107 107 missense 0.992 probably damaging 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1345789676 6p24.3 6 8427937C> T null R K 108 108 missense 0.241 benign 0.37 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs765743302 6p24.3 6 8422619G> C null P R 110 110 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1248576002 6p24.3 6 8422605T> G null M L 115 115 missense 0.012 benign 1.0 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs760110146 6p24.3 6 8422604A> G null M T 115 115 missense 0.517 possibly damaging 0.14 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1248576002 6p24.3 6 8422605T> C null M V 115 115 missense 0.055 benign 0.23 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1469081754 6p24.3 6 8422602T> A null I L 116 116 missense 0.006 benign 1.0 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1211616803 6p24.3 6 8422600T> C null I M 116 116 missense 0.152 benign 0.18 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs774976524 6p24.3 6 8422601A> C null I R 116 116 missense 0.601 possibly damaging 0.07 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1280037639 6p24.3 6 8422592A> C null F C 119 119 missense 0.984 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1291536851 6p24.3 6 8422593A> G null F L 119 119 missense 0.071 benign 0.5 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs771537703 6p24.3 6 8422590G> C null L V 120 120 missense 0.968 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs770722268 6p24.3 6 8422584C> G null V L 122 122 missense 0.122 benign 0.5 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs770722268 6p24.3 6 8422584C> T null V M 122 122 missense 0.961 probably damaging 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs954770019 6p24.3 6 8422574A> G null M T 125 125 missense 0.95 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1328296423 6p24.3 6 8422572C> G null G R 126 126 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1581247111 6p24.3 6 8422569A> C null L V 127 127 missense 0.949 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1460169827 6p24.3 6 8422565G> T null S * 128 128 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1159636485 6p24.3 6 8422563T> C null N D 129 129 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs777796568 6p24.3 6 8422550C> G null G A 133 133 missense 0.951 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs777796568 6p24.3 6 8422550C> T null G D 133 133 missense 0.994 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1490196666 6p24.3 6 8422537G> T null Y * 137 137 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs769861644 6p24.3 6 8422539A> G null Y H 137 137 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1284766780 6p24.3 6 8422535G> A null P L 138 138 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1284766780 6p24.3 6 8422535G> C null P R 138 138 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1434125999 6p24.3 6 8422530G> C null Q E 140 140 missense 0.955 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs748167381 6p24.3 6 8422526A> G null V A 141 141 missense 0.995 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs961790317 6p24.3 6 8422521A> G null F L 143 143 missense 0.914 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1159389371 6p24.3 6 8422516C> G null K N 144 144 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1362627500 6p24.3 6 8422517T> C null K R 144 144 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs907580615 6p24.3 6 8422511C> T null C Y 146 146 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs996300470 6p24.3 6 8422500G> C null P A 150 150 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs987342097 6p24.3 6 8422496A> G null V A 151 151 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1234423632 6p24.3 6 8422497C> G null V L 151 151 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1372589241 6p24.3 6 8422493A> T null M K 152 152 missense 0.985 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1178581274 6p24.3 6 8422494T> C null M V 152 152 missense 0.823 possibly damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs780159985 6p24.3 6 8422488C> T null G R 154 154 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs780159985 6p24.3 6 8422488C> G null G R 154 154 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1306002420 6p24.3 6 8422478A> C null F C 157 157 missense 0.838 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1171854322 6p24.3 6 8420823G> A null R C 162 162 missense 0.993 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs781019652 6p24.3 6 8420822C> T null R H 162 162 missense 0.993 probably damaging 0.04 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1420530083 6p24.3 6 8420820A> G null Y H 163 163 missense 0.942 probably damaging 0.06 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs768730553 6p24.3 6 8420815A> T null N K 164 164 missense 0.348 benign 0.14 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs747069121 cosmic curated [Cosmic]: central_nervous_system pubmed:22832583,cosmic_study:379 6p24.3 6 8420814C> T null V I 165 165 missense 0.003 benign 0.54 tolerated 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1188557955 6p24.3 6 8420810G> A null A V 166 166 missense 0.005 benign 0.28 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs951065823 6p24.3 6 8420807T> C null D G 167 167 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1486612721 6p24.3 6 8420808C> A null D Y 167 167 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs780251782 6p24.3 6 8420801G> C null S C 169 169 missense 0.035 benign 0.18 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1581241963 6p24.3 6 8420799C> G null A P 170 170 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed rs758613946 6p24.3 6 8420793T> A null I L 172 172 missense 0.0 benign 0.99 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed rs758613946 6p24.3 6 8420793T> C null I V 172 172 missense 0.0 benign 1.0 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs750702343 6p24.3 6 8420790A> C null C G 173 173 missense 0.309 benign 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs750702343 6p24.3 6 8420790A> G null C R 173 173 missense 0.752 possibly damaging 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1223485557 6p24.3 6 8420787T> C null M V 174 174 missense 0.976 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1274641474 6p24.3 6 8420783C> G null S T 175 175 missense 0.177 benign 0.52 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1212496479 6p24.3 6 8420777C> A null G V 177 177 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs757657651 6p24.3 6 8420774A> G null L P 178 178 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs754331760 6p24.3 6 8420769A> G null W R 180 180 missense 0.895 possibly damaging 0.11 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs764533271 6p24.3 6 8420757C> A null A S 184 184 missense 0.972 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs764533271 6p24.3 6 8420757C> T null A T 184 184 missense 0.692 possibly damaging 0.11 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs759029245 6p24.3 6 8420753T> G null D A 185 185 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs371235196 6p24.3 6 8420751T> C null S G 186 186 missense 0.908 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1581241782 6p24.3 6 8420750C> T null S N 186 186 missense 0.326 benign 0.11 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1355238003 6p24.3 6 8420748T> C null T A 187 187 missense 0.038 benign 0.36 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,TOPMed,gnomAD rs202083548 6p24.3 6 8420745T> C null T A 188 188 0.0002 missense 0.027 benign 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs976505388 6p24.3 6 8420744G> A null T I 188 188 missense 0.0 benign 0.34 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs868600649 6p24.3 6 8420742C> A null A S 189 189 missense 0.124 benign 1.0 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,gnomAD rs139697376 6p24.3 6 8420723G> A null T M 195 195 0.0002 missense 0.96 probably damaging 0.22 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs901366430 6p24.3 6 8419675C> T null V M 197 197 missense 0.933 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1253726598 6p24.3 6 8419664A> C null I M 200 200 missense 0.926 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1195377442 6p24.3 6 8419665A> C null I S 200 200 missense 0.962 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs753309521 6p24.3 6 8419662G> A null S F 201 201 missense 0.236 benign 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1439098245 6p24.3 6 8419663A> T null S T 201 201 missense 0.394 benign 0.05 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs765968010 6p24.3 6 8419651A> G null C R 205 205 missense 0.979 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs758025919 6p24.3 6 8419647G> A null A V 206 206 missense 0.933 probably damaging 0.16 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs750043929 6p24.3 6 8419639C> T null V I 209 209 missense 0.179 benign 0.39 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs371936863 6p24.3 6 8419635A> G null I T 210 210 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1253203388 6p24.3 6 8419633C> T null G R 211 211 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1554118100 6p24.3 6 8419627C> T null V I 213 213 missense 0.679 possibly damaging 0.19 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs868404113 6p24.3 6 8419624G> A null Q * 214 214 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1463495359 cosmic curated [Cosmic]: liver cosmic_study:322 6p24.3 6 8419612T> C null M V 218 218 missense 0.955 probably damaging 0.0 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs374380164 6p24.3 6 8419609T> C null K E 219 219 missense 0.983 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1318060033 6p24.3 6 8419607T> A null K N 219 219 missense 0.992 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1286368371 6p24.3 6 8419603G> T null H N 221 221 missense 0.574 possibly damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs761598438 6p24.3 6 8419602T> C null H R 221 221 missense 0.968 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs776282547 6p24.3 6 8419600T> G null N H 222 222 missense 0.722 possibly damaging 0.13 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1443461519 6p24.3 6 8419591T> C null N D 225 225 missense 0.992 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs764006472 6p24.3 6 8419587G> A null S F 226 226 missense 0.958 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1292736767 6p24.3 6 8419581A> G null M T 228 228 missense 0.867 possibly damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1196533655 6p24.3 6 8417493A> G null V A 229 229 missense 0.969 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1255637971 6p24.3 6 8417494C> T null V I 229 229 missense 0.817 possibly damaging 0.06 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs774410829 6p24.3 6 8417490A> G null L S 230 230 missense 0.714 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC rs199599350 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 6p24.3 6 8417487T> C null Y C 231 231 0 missense 0.997 probably damaging 0.0 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,TOPMed,gnomAD rs200430359 6p24.3 6 8417484G> A null S L 232 232 0.0002 missense 0.983 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs748556231 6p24.3 6 8417476T> G null I L 235 235 missense 0.025 benign 0.18 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs781734739 6p24.3 6 8417475A> G null I T 235 235 missense 0.538 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs748556231 6p24.3 6 8417476T> C null I V 235 235 missense 0.024 benign 0.07 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144747158 6p24.3 6 8417462G> T null Y * 239 239 0.002596 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC rs778543593 6p24.3 6 8417461T> G null I L 240 240 missense 0.139 benign 0.9 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1392713565 6p24.3 6 8417460A> G null I T 240 240 missense 0.95 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs190725185 6p24.3 6 8417454A> G null L P 242 242 0.000998 missense 0.683 possibly damaging 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs777503753 6p24.3 6 8417445G> A null T I 245 245 missense 0.005 benign 0.59 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1165502797 6p24.3 6 8417446T> A null T S 245 245 missense 0.007 benign 0.24 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1561746986 6p24.3 6 8417443A> C null C G 246 246 missense 0.173 benign 0.17 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1453004882 6p24.3 6 8417440T> C null T A 247 247 missense 0.338 benign 0.05 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1581232776 6p24.3 6 8417436C> T null S N 248 248 missense 0.001 benign 0.07 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs76955948 6p24.3 6 8417427C> T null G D 251 251 missense 0.116 benign 0.21 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs755808845 6p24.3 6 8417421G> T null A E 253 253 missense 0.971 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs752494448 6p24.3 6 8417416T> C null T A 255 255 missense 0.001 benign 0.9 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1178308840 6p24.3 6 8417413A> G null F L 256 256 missense 0.91 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,TOPMed,gnomAD rs137936752 6p24.3 6 8417406G> C null A G 258 258 missense 0.077 benign 0.48 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,TOPMed,gnomAD rs137936752 6p24.3 6 8417406G> A null A V 258 258 missense 0.012 benign 0.61 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1008732309 6p24.3 6 8416989C> G null V L 262 262 missense 0.003 benign 0.62 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs755787757 6p24.3 6 8416985C> T null R Q 263 263 missense 0.0 benign 0.72 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs777225733 6p24.3 6 8416986G> A null R W 263 263 missense 0.533 possibly damaging 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs752406652 6p24.3 6 8416982G> T null T N 264 264 missense 0.89 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs371087191 6p24.3 6 8416978A> C null Y * 265 265 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1487018848 6p24.3 6 8416979T> C null Y C 265 265 missense 0.983 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs370759766 6p24.3 6 8416973T> A null Y F 267 267 missense 0.034 benign 0.04 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs777326370 6p24.3 6 8416971C> T null A T 268 268 missense 0.11 benign 0.1 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs754810102 cosmic curated [Cosmic]: endometrium cosmic_study:419 6p24.3 6 8416970G> A null A V 268 268 missense 0.058 benign 0.02 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1330934958 6p24.3 6 8416964A> T null L H 270 270 missense 0.963 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143437815 6p24.3 6 8416965G> T null L I 270 270 0.000998 missense 0.181 benign 0.42 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1312254586 6p24.3 6 8416956G> C null L V 273 273 missense 0.46 possibly damaging 0.15 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1297674489 6p24.3 6 8416952G> T null T N 274 274 missense 0.582 possibly damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1427570469 6p24.3 6 8416950C> A null G * 275 275 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1186182171 6p24.3 6 8416940C> G null G A 278 278 missense 0.964 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1373493194 6p24.3 6 8416932A> G null F L 281 281 missense 0.038 benign 0.33 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs777032338 6p24.3 6 8416931A> G null F S 281 281 missense 0.521 possibly damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1450081465 6p24.3 6 8416928A> C null V G 282 282 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP rs145512512 cosmic curated [Cosmic]: urinary_tract cosmic_study:413 6p24.3 6 8416918C> G null L F 285 285 missense 0.998 probably damaging 0.0 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1211012652 6p24.3 6 8416911T> G null I L 288 288 missense 0.001 benign 0.45 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs764511746 6p24.3 6 8416904C> T null G D 290 290 missense 0.889 possibly damaging 0.05 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs761143598 6p24.3 6 8416901G> A null A V 291 291 missense 0.989 probably damaging 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1199579616 6p24.3 6 8416899G> A null L F 292 292 missense 0.465 possibly damaging 0.27 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs775801929 6p24.3 6 8416898A> T null L H 292 292 missense 0.995 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs772639103 6p24.3 6 8416895A> G null I T 293 293 missense 0.02 benign 0.22 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs746429493 6p24.3 6 8416892G> C null A G 294 294 missense 0.996 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs769345087 6p24.3 6 8416884C> A null V L 297 297 missense 0.956 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs756161172 6p24.3 6 8414972T> C null T A 299 299 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs774762743 6p24.3 6 8414968C> T null G E 300 300 missense 0.736 possibly damaging 0.05 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs774762743 6p24.3 6 8414968C> A null G V 300 300 missense 0.09 benign 0.29 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,gnomAD rs377709536 6p24.3 6 8414965C> A null R I 301 301 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1282550036 6p24.3 6 8414959G> T null A E 303 303 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs964980162 6p24.3 6 8414955C> T null M I 304 304 missense 0.042 benign 0.25 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1022320277 6p24.3 6 8414951T> C null I V 306 306 missense 0.058 benign 0.07 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs150037099 6p24.3 6 8414948C> T null V I 307 307 missense 0.021 benign 0.53 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs780027674 6p24.3 6 8414945G> A null L F 308 308 missense 0.679 possibly damaging 0.11 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs374587821 cosmic curated [Cosmic]: large_intestine pubmed:22810696,pubmed:22895193,cosmic_study:376,cosmic_study:452 6p24.3 6 8414941G> A null S L 309 309 missense 1.0 probably damaging 0.0 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1003121144 6p24.3 6 8414942A> G null S P 309 309 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1239589332 6p24.3 6 8414935A> G null I T 311 311 missense 0.16 benign 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1176451855 6p24.3 6 8414931G> T null F L 312 312 missense 0.109 benign 0.35 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1002581820 6p24.3 6 8414920G> A null P L 316 316 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs758163827 6p24.3 6 8414921G> A null P S 316 316 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1267038087 6p24.3 6 8414916G> T null F L 317 317 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1286868476 6p24.3 6 8414914G> A null T M 318 318 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs757786010 6p24.3 6 8414910A> C null F L 319 319 missense 0.01 benign 0.33 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,gnomAD rs537241906 6p24.3 6 8413699C> A null Q H 320 320 0.0002 missense 0.969 probably damaging 0.08 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1400611401 6p24.3 6 8413697T> C null Y C 321 321 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs770986778 6p24.3 6 8413698A> G null Y H 321 321 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1361826298 6p24.3 6 8413690C> T null W * 323 323 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1361826298 6p24.3 6 8413690C> A null W C 323 323 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs749298011 6p24.3 6 8413686C> G null G R 325 325 missense 0.986 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs777978560 6p24.3 6 8413685C> A null G V 325 325 missense 0.965 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs371370316 6p24.3 6 8413681C> G null L F 326 326 missense 0.048 benign 0.07 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs371370316 6p24.3 6 8413681C> A null L F 326 326 missense 0.048 benign 0.07 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1177849394 6p24.3 6 8413676A> G null V A 328 328 missense 0.993 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1177849394 6p24.3 6 8413676A> C null V G 328 328 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1423591720 6p24.3 6 8413668C> T null G S 331 331 missense 0.989 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1191054960 6p24.3 6 8413665T> C null I V 332 332 missense 0.721 possibly damaging 0.1 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,TOPMed,gnomAD rs188362246 6p24.3 6 8413650A> G null Y H 337 337 0.000399 missense 0.974 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs766799654 6p24.3 6 8413642T> A null K N 339 339 missense 0.97 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs569798441 6p24.3 6 8413635C> T null D N 342 342 missense 0.02 benign 0.47 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs763425682 6p24.3 6 8413632T> G null K Q 343 343 missense 0.071 benign 0.09 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1310217577 6p24.3 6 8413628A> T null I K 344 344 missense 0.037 benign 0.03 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,gnomAD rs372727251 6p24.3 6 8413627T> C null I M 344 344 missense 0.003 benign 0.51 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1165365862 6p24.3 6 8413624T> G null R S 345 345 missense 0.009 benign 0.5 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs760123801 6p24.3 6 8413619G> A null P L 347 347 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140169332 6p24.3 6 8413620G> A null P S 347 347 0.000399 missense 0.0 benign 0.19 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138555152 6p24.3 6 8413617A> G null S P 348 348 0.006789 missense 0.001 benign 0.1 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1402363944 6p24.3 6 8413611A> G null Y H 350 350 missense 0.0 benign 0.51 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,gnomAD rs546504771 6p24.3 6 8413608C> A null D Y 351 351 0.0002 missense 0.087 benign 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs184068804 6p24.3 6 8413603C> G null L F 352 352 0.0002 missense 0.178 benign 0.4 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs974619578 6p24.3 6 8413599T> G null N H 354 354 missense 0.087 benign 0.18 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1561742269 6p24.3 6 8413597G> C null N K 354 354 missense 0.0 benign 0.75 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs142786673 6p24.3 6 8413595T> G null K T 355 355 missense 0.001 benign 0.18 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1466564596 6p24.3 6 8413592G> A null S L 356 356 missense 0.0 benign 0.53 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs908811179 6p24.3 6 8413589A> G null V A 357 357 missense 0.0 benign 0.47 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1291189899 6p24.3 6 8413590C> T null V M 357 357 missense 0.0 benign 0.41 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs770900545 6p24.3 6 8413587C> T null E K 358 358 missense 0.0 benign 0.35 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs749208348 6p24.3 6 8413584C> T null A T 359 359 missense 0.0 benign 0.57 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,TOPMed rs375405898 6p24.3 6 8413574G> A null S L 362 362 missense 0.001 benign 0.02 deleterious - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs769872030 6p24.3 6 8413568G> A null T M 364 364 missense 0.323 benign 0.03 deleterious - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs781412205 6p24.3 6 8413565A> G null L P 365 365 missense 0.656 possibly damaging 0.08 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs950423574 6p24.3 6 8413562G> A null A V 366 366 missense 0.326 benign 0.08 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,gnomAD rs201176928 6p24.3 6 8413550T> A null * L 370 370 0.0002 stop lost 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1018325703 6p25.2 6 2959334A> G null I T 4 4 missense 0.003 benign 0.19 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,dbSNP,gnomAD rs779093042 6p25.2 6 2959335T> C null I V 4 4 missense 0.001 benign 0.47 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs1225963332 6p25.2 6 2959330C> G null M I 5 5 missense 0.923 probably damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs770912151 6p25.2 6 2959332T> C null M V 5 5 missense 0.879 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1178074123 6p25.2 6 2959328T> C null D G 6 6 missense 0.238 benign 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs749581042 6p25.2 6 2959326C> T null V I 7 7 missense 0.003 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1175149405 6p25.2 6 2959319G> T null A E 9 9 missense 0.098 benign 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs377092491 6p25.2 6 2959320C> T null A T 9 9 missense 0.003 benign 0.09 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs781572313 6p25.2 6 2959316T> G null E A 10 10 missense 0.024 benign 0.28 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs371532463 6p25.2 6 2959317C> T null E K 10 10 missense 0.059 benign 0.33 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ESP rs376640280 6p25.2 6 2959307C> T null G D 13 13 missense 0.162 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1168478288 6p25.2 6 2959308C> T null G S 13 13 missense 0.17 benign 0.16 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs751978309 6p25.2 6 2959304G> T null T N 14 14 missense 0.059 benign 0.14 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs751978309 6p25.2 6 2959304G> C null T S 14 14 missense 0.139 benign 0.29 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs761297437 6p25.2 6 2959284T> C null K E 21 21 missense 0.238 benign 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs753498563 6p25.2 6 2959280G> A null T M 22 22 missense 0.01 benign 0.24 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147083388 6p25.2 6 2959278G> C null L V 23 23 0.000399 missense 0.775 possibly damaging 0.03 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,dbSNP,gnomAD rs775408746 6p25.2 6 2959275C> G null G R 24 24 missense 0.955 probably damaging 0.12 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs775408746 6p25.2 6 2959275C> T null G S 24 24 missense 0.233 benign 0.46 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs771735789 6p25.2 6 2959274C> A null G V 24 24 missense 0.891 possibly damaging 0.05 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,gnomAD rs143500518 6p25.2 6 2959266T> C null N D 27 27 missense 0.03 benign 0.12 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs145375367 6p25.2 6 2959262G> A null S L 28 28 missense 0.099 benign 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs145375367 6p25.2 6 2959262G> C null S W 28 28 missense 0.987 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,TOPMed,gnomAD rs375870990 6p25.2 6 2959259T> C null K R 29 29 missense 0.044 benign 0.54 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1281844981 6p25.2 6 2959257T> A null N Y 30 30 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs773598446 6p25.2 6 2959253A> T null V E 31 31 missense 0.97 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs773598446 6p25.2 6 2959253A> C null V G 31 31 missense 0.96 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1341373572 6p25.2 6 2959251A> C null F V 32 32 missense 0.437 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1253425288 6p25.2 6 2959246G> C null F L 33 33 missense 0.03 benign 0.1 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1487326938 6p25.2 6 2959244G> A null S L 34 34 missense 0.771 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1290636465 6p25.2 6 2959242G> A null P S 35 35 missense 0.98 probably damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1451752856 6p25.2 6 2959237C> T null M I 36 36 missense 0.0 benign 0.16 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs938436154 6p25.2 6 2959236T> C null S G 37 37 missense 0.483 possibly damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs145538358 6p25.2 6 2959233T> C null M V 38 38 0.000599 missense 0.001 benign 0.11 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs982920044 6p25.2 6 2959229G> A null S F 39 39 missense 0.279 benign 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs748293831 6p25.2 6 2959224C> T null A T 41 41 missense 0.483 possibly damaging 0.1 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1581257052 6p25.2 6 2959220A> T null L Q 42 42 missense 0.995 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs755289908 6p25.2 6 2959211A> T null V D 45 45 missense 0.979 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs140220538 [ClinVar]: Autosomal recessive nonsyndromic hearing loss 91 6p25.2 6 2959212C> T null V I 45 45 0.0002 missense 0.329 benign 0.1 tolerated 0 Autosomal recessive nonsyndromic hearing loss 91 MIM:613453 ClinVar:RCV001335154 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1184205501 6p25.2 6 2959207G> T null Y * 46 46 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs147962494 6p25.2 6 2959208T> C null Y C 46 46 missense 0.031 benign 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,dbSNP,gnomAD rs147962494 6p25.2 6 2959208T> G null Y S 46 46 missense 0.022 benign 0.08 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1561682751 6p25.2 6 2959206T> G null M L 47 47 missense 0.007 benign 1.0 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1423708802 6p25.2 6 2959200C> A null A S 49 49 missense 0.781 possibly damaging 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs1256116221 6p25.2 6 2959197T> A null K * 50 50 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs1256116221 6p25.2 6 2959197T> C null K E 50 50 missense 0.046 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1406918066 6p25.2 6 2959190T> C null N S 52 52 missense 0.015 benign 0.16 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed rs753299868 6p25.2 6 2959187G> A null T I 53 53 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144890174 6p25.2 6 2959185C> T null A T 54 54 0.000399 missense 0.54 possibly damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs752291019 6p25.2 6 2959182C> T null A T 55 55 missense 0.001 benign 0.3 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1298325813 6p25.2 6 2959179G> C null Q E 56 56 missense 0.948 probably damaging 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs767405543 6p25.2 6 2959178T> C null Q R 56 56 missense 0.693 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1320319140 6p25.2 6 2959172G> A null A V 58 58 missense 0.007 benign 0.25 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs1398359794 6p25.2 6 2955667G> A null L F 61 61 missense 0.95 probably damaging 0.03 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1296292240 6p25.2 6 2955664A> G null S P 62 62 missense 0.851 possibly damaging 0.07 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1296292240 6p25.2 6 2955664A> T null S T 62 62 missense 0.192 benign 0.15 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs752410026 6p25.2 6 2955663G> T null S Y 62 62 missense 0.069 benign 0.37 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs767011498 6p25.2 6 2955660A> C null F C 63 63 missense 0.941 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs754833916 6p25.2 6 2955659G> C null F L 63 63 missense 0.005 benign 1.0 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 dbSNP,gnomAD rs1442219139 6p25.2 6 2955658T> C null N D 64 64 missense 0.003 benign 0.35 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs751262205 6p25.2 6 2955655T> C null K E 65 65 missense 0.093 benign 0.15 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1183518055 6p25.2 6 2955653T> G null K N 65 65 missense 0.093 benign 0.05 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC rs766254249 6p25.2 6 2955651C> T null S N 66 66 missense 0.031 benign 0.38 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs368352906 6p25.2 6 2955648C> T null G D 67 67 missense 0.007 benign 0.48 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,dbSNP,gnomAD rs727503417 6p25.2 6 2955649C> T null G S 67 67 missense 0.006 benign 0.54 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs761738216 cosmic curated [Cosmic]: breast cosmic_study:414 6p25.2 6 2955646C> T null G S 68 68 missense 0.796 possibly damaging 0.16 tolerated 1 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1581247351 6p25.2 6 2955643C> A null G C 69 69 missense 0.266 benign 0.05 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1225064036 6p25.2 6 2955642C> T null G D 69 69 missense 0.041 benign 0.2 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1314538545 6p25.2 6 2955640C> T null G R 70 70 missense 0.069 benign 0.07 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs760933099 6p25.2 6 2955631G> A null H Y 73 73 missense 0.985 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1581247269 6p25.2 6 2955627T> C null Q R 74 74 missense 0.047 benign 0.22 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs139696192 6p25.2 6 2955624C> T null G D 75 75 missense 0.162 benign 0.2 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,gnomAD rs569086788 6p25.2 6 2955619G> A null Q * 77 77 0.0002 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs947869732 6p25.2 6 2955615G> A null S F 78 78 missense 0.586 possibly damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1304552067 6p25.2 6 2955616A> G null S P 78 78 missense 0.522 possibly damaging 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs779335963 6p25.2 6 2955613G> A null L F 79 79 missense 0.996 probably damaging 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed rs769353821 6p25.2 6 2955610G> A null L F 80 80 missense 0.303 benign 0.03 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed rs769353821 6p25.2 6 2955610G> C null L V 80 80 missense 0.66 possibly damaging 0.03 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs772566054 6p25.2 6 2955607T> C null T A 81 81 missense 0.012 benign 0.52 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs751225761 6p25.2 6 2955604C> A null E * 82 82 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs751225761 cosmic curated [Cosmic]: endometrium cosmic_study:419 6p25.2 6 2955604C> T null E K 82 82 missense 0.171 benign 0.12 tolerated 1 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs751225761 6p25.2 6 2955604C> G null E Q 82 82 missense 0.637 possibly damaging 0.2 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs780061780 6p25.2 6 2955600A> G null V A 83 83 missense 0.69 possibly damaging 0.05 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs750395449 6p25.2 6 2955588C> T null G D 87 87 missense 0.015 benign 0.47 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,gnomAD rs538616923 6p25.2 6 2955585G> T null T K 88 88 0.0002 missense 0.161 benign 0.15 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs538616923 [ClinVar]: Autosomal recessive nonsyndromic hearing loss 91 6p25.2 6 2955585G> A null T M 88 88 0.0002 missense 0.349 benign 0.02 deleterious 0 Autosomal recessive nonsyndromic hearing loss 91 MIM:613453 ClinVar:RCV000764642 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,gnomAD rs538616923 6p25.2 6 2955585G> C null T R 88 88 0.0002 missense 0.226 benign 0.14 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2295769 [ClinVar]: Autosomal recessive nonsyndromic hearing loss 91 pubmed:14702039,pubmed:17974005,pubmed:8136380,pubmed:8415716 6p25.2 6 2955568T> C null M V 90 90 0.2129 missense 0 Autosomal recessive nonsyndromic hearing loss 91 MIM:613453 ClinVar:RCV001807008 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1435401095 6p25.2 6 2955573A> G null L P 92 92 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs760875056 6p25.2 6 2955570C> A null R M 93 93 missense 0.967 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs866592012 6p25.2 6 2955565C> T null A T 95 95 missense 0.973 probably damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs759829139 6p25.2 6 2955557C> G null R S 97 97 missense 0.551 possibly damaging 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1391225021 6p25.2 6 2955555A> G null L P 98 98 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs774872271 6p25.2 6 2955543T> C null K R 102 102 missense 0.112 benign 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs1402656047 6p25.2 6 2955540G> A null S F 103 103 missense 0.834 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1230629041 6p25.2 6 2955532A> G null F L 106 106 missense 0.094 benign 0.07 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs749779148 6p25.2 6 2955529G> C null L V 107 107 missense 0.031 benign 0.07 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs771798303 6p25.2 6 2954709A> C null S A 109 109 missense 0.012 benign 0.24 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs148530934 [ClinVar]: Usher syndrome 6p25.2 6 2954708G> T null S Y 109 109 0.000599 missense 0.029 benign 0.01 deleterious 0 Usher syndrome MIM:PS276900 ClinVar:RCV001375306 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1347898840 6p25.2 6 2954702C> T null R K 111 111 missense 0.0 benign 1.0 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs968930117 6p25.2 6 2954694A> G null C R 114 114 missense 0.972 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs778642972 6p25.2 6 2954688T> G null K Q 116 116 missense 0.037 benign 0.23 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl,dbSNP rs397516637 6p25.2 6 2954679G> C null Q E 119 119 missense 0.018 benign 0.27 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs757063982 6p25.2 6 2954673C> T null E K 121 121 missense 0.068 benign 0.06 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1273529568 6p25.2 6 2954670T> C null M V 122 122 missense 0.031 benign 0.1 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs1215947691 6p25.2 6 2954665C> G null E D 123 123 missense 0.777 possibly damaging 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,gnomAD rs553009746 6p25.2 6 2954661G> A null L F 125 125 0.0002 missense 0.394 benign 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1269010644 6p25.2 6 2954651A> C null I S 128 128 missense 0.005 benign 0.44 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs368785463 cosmic curated [Cosmic]: large_intestine cosmic_study:375 6p25.2 6 2954646C> T null A T 130 130 missense 0.137 benign 0.05 tolerated 1 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs374591548 6p25.2 6 2954642A> G null V A 131 131 missense 0.0 benign 1.0 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs374591548 6p25.2 6 2954642A> T null V E 131 131 missense 0.062 benign 0.03 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,dbSNP,gnomAD rs146252067 cosmic curated [Cosmic]: urinary_tract cosmic_study:413 6p25.2 6 2954643C> T null V I 131 131 missense 0.065 benign 0.06 tolerated 1 A0A024QZX5 SERPINB6 Serpin B6 dbSNP,gnomAD rs1329989490 6p25.2 6 2954639T> C null E G 132 132 missense 0.688 possibly damaging 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1411805495 6p25.2 6 2954626T> G null K N 136 136 missense 0.026 benign 0.1 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs773592860 6p25.2 6 2954622T> G null I L 138 138 missense 0.743 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs773592860 6p25.2 6 2954622T> C null I V 138 138 missense 0.178 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs765731764 6p25.2 6 2954617G> T null N K 139 139 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1371813510 6p25.2 6 2954616T> C null T A 140 140 missense 0.018 benign 0.7 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1181675462 6p25.2 6 2954615G> C null T S 140 140 missense 0.031 benign 0.79 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1233184506 6p25.2 6 2954611C> T null W * 141 141 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1461839580 6p25.2 6 2954613A> G null W R 141 141 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs760282479 6p25.2 6 2954610C> G null V L 142 142 missense 0.669 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1171857229 6p25.2 6 2954599C> G null K N 145 145 missense 0.162 benign 0.05 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,dbSNP,gnomAD rs200861589 6p25.2 6 2954598T> C null T A 146 146 0.000599 missense 0.936 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,gnomAD rs78667919 6p25.2 6 2953186C> T null G D 148 148 0.0002 missense 0.061 benign 0.13 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1420248778 6p25.2 6 2953183T> G null K T 149 149 missense 0.947 probably damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs750577552 6p25.2 6 2953177G> C null A G 151 151 missense 0.168 benign 0.08 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1011266071 6p25.2 6 2953178C> T null A T 151 151 missense 0.001 benign 0.54 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs750577552 6p25.2 6 2953177G> A null A V 151 151 missense 0.005 benign 0.17 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1281588232 6p25.2 6 2953173C> A null E D 152 152 missense 0.003 benign 0.38 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1325863623 6p25.2 6 2953175C> T null E K 152 152 missense 0.038 benign 0.06 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2295766 6p25.2 6 2953160C> T null G S 153 153 0.003794 missense 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1362744366 6p25.2 6 2953168A> G null L P 154 154 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs764659148 6p25.2 6 2953162G> A null P L 156 156 missense 0.031 benign 0.09 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1426996664 6p25.2 6 2953159C> T null G D 157 157 missense 0.026 benign 0.27 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,dbSNP,gnomAD rs727503416 6p25.2 6 2953157A> C null S A 158 158 missense 0.011 benign 0.17 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs762734632 6p25.2 6 2953150T> C null D G 160 160 missense 0.267 benign 0.16 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141773281 6p25.2 6 2953147G> A null P L 161 161 0.000399 missense 0.005 benign 0.06 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1288742760 6p25.2 6 2953142T> A null T S 163 163 missense 0.357 benign 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1003446975 6p25.2 6 2953135A> C null L R 165 165 missense 0.994 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs769589382 6p25.2 6 2953133C> T null V I 166 166 missense 0.021 benign 0.12 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC rs761528606 6p25.2 6 2953127C> T null V M 168 168 missense 0.87 possibly damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1561674497 6p25.2 6 2953123T> A null N I 169 169 missense 0.98 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs768585396 6p25.2 6 2953120G> A null A V 170 170 missense 0.613 possibly damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,dbSNP rs876657997 6p25.2 6 2953114T> C null Y C 172 172 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1308307779 6p25.2 6 2953109T> A null R * 174 174 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1212905441 6p25.2 6 2953099C> T null W * 177 177 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs746895380 6p25.2 6 2953100A> T null W R 177 177 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs780219055 6p25.2 6 2953096T> C null D G 178 178 missense 0.149 benign 0.11 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1176338435 6p25.2 6 2953097C> T null D N 178 178 missense 0.013 benign 0.51 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs772038204 6p25.2 6 2953094C> T null E K 179 179 missense 0.0 benign 1.0 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs1403621401 6p25.2 6 2953091G> C null Q E 180 180 missense 0.029 benign 0.16 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1302064205 6p25.2 6 2953090T> G null Q P 180 180 missense 0.012 benign 0.31 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1051056254 6p25.2 6 2953084T> C null D G 182 182 missense 0.007 benign 0.06 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs373122292 6p25.2 6 2953085C> T null D N 182 182 missense 0.001 benign 0.67 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs201274381 6p25.2 6 2953078T> A null E V 184 184 0.0002 missense 0.019 benign 0.06 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs201952350 6p25.2 6 2953070C> T null E K 187 187 missense 0.0 benign 0.48 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1376301522 6p25.2 6 2953067C> T null E K 188 188 missense 0.386 benign 0.1 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs754210089 6p25.2 6 2953063C> A null R I 189 189 missense 0.078 benign 0.07 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1447037411 6p25.2 6 2953060A> C null L R 190 190 missense 0.003 benign 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs765973715 6p25.2 6 2953055T> C null K E 192 192 missense 0.743 possibly damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs765973715 6p25.2 6 2953055T> G null K Q 192 192 missense 0.209 benign 0.07 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC rs764004468 6p25.2 6 2949069T> C null N D 196 196 missense 0.015 benign 0.18 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs760322224 6p25.2 6 2949067A> C null N K 196 196 missense 0.022 benign 0.71 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1256429895 6p25.2 6 2949066C> T null E K 197 197 missense 0.019 benign 0.12 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs775531558 6p25.2 6 2949063C> T null E K 198 198 missense 0.003 benign 0.98 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs775531558 6p25.2 6 2949063C> G null E Q 198 198 missense 0.007 benign 0.86 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC rs767312070 6p25.2 6 2949060T> A null K * 199 199 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs759528009 6p25.2 6 2949057G> A null P S 200 200 missense 0.603 possibly damaging 0.06 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs774614022 6p25.2 6 2949054C> A null V L 201 201 missense 0.796 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1258667123 6p25.2 6 2949047A> C null M R 203 203 missense 0.941 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1227589700 6p25.2 6 2949044A> G null M T 204 204 missense 0.964 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs773252719 6p25.2 6 2949038T> A null K M 206 206 missense 0.135 benign 0.08 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs749580923 6p25.2 6 2949039T> G null K Q 206 206 missense 0.02 benign 1.0 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC rs748420410 6p25.2 6 2949036G> A null Q * 207 207 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1318428057 6p25.2 6 2949033A> C null S A 208 208 missense 0.009 benign 0.98 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs544481054 6p25.2 6 2949030T> C null T A 209 209 missense 0.015 benign 0.21 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs781733784 6p25.2 6 2949023T> C null K R 211 211 missense 0.015 benign 0.41 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs755523811 6p25.2 6 2949017G> A null T I 213 213 missense 0.11 benign 0.2 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1318892247 6p25.2 6 2949018T> A null T S 213 213 missense 0.047 benign 0.24 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs939018024 6p25.2 6 2949013A> T null Y * 214 214 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs747479646 6p25.2 6 2949010T> C null I M 215 215 missense 0.222 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1410209674 6p25.2 6 2949012T> C null I V 215 215 missense 0.001 benign 0.5 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs886134571 6p25.2 6 2949009C> G null G R 216 216 missense 0.02 benign 0.41 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs778458495 6p25.2 6 2949006C> T null E K 217 217 missense 0.101 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs753496457 6p25.2 6 2948989G> C null I M 222 222 missense 0.97 probably damaging 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs777254485 6p25.2 6 2948984A> G null V A 224 224 missense 0.02 benign 0.09 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs755962397 6p25.2 6 2948978G> C null P R 226 226 missense 0.973 probably damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1328797149 6p25.2 6 2948974A> C null Y * 227 227 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1378657152 6p25.2 6 2948976A> G null Y H 227 227 missense 0.996 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs752487540 6p25.2 6 2948967T> C null K E 230 230 missense 0.005 benign 0.67 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 dbSNP,gnomAD rs1201327476 [ClinVar]: Rare genetic deafness 6p25.2 6 2948964C> A null E * 231 231 stop gained 0 Rare genetic deafness ClinVar:RCV000601975 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1201327476 6p25.2 6 2948964C> T null E K 231 231 missense 0.523 possibly damaging 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1399975382 6p25.2 6 2948957T> C null N S 233 233 missense 0.019 benign 1.0 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs930371368 6p25.2 6 2948958T> A null N Y 233 233 missense 0.799 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1561668967 6p25.2 6 2948951A> G null I T 235 235 missense 0.246 benign 0.05 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,gnomAD rs138645542 6p25.2 6 2948946T> C null M V 237 237 missense 0.05 benign 0.1 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs772585965 6p25.2 6 2948939G> A null P L 239 239 missense 0.996 probably damaging 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs763058302 6p25.2 6 2948936T> A null D V 240 240 missense 0.899 possibly damaging 0.03 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs769858532 cosmic curated [Cosmic]: large_intestine cosmic_study:376 6p25.2 6 2948934C> T null E K 241 241 missense 0.05 benign 0.08 tolerated 1 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs187482841 6p25.2 6 2948918C> T null R K 246 246 0.002196 missense 0.001 benign 0.72 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs776896710 cosmic curated [Cosmic]: lung cosmic_study:417 6p25.2 6 2948915G> A null T M 247 247 missense 0.063 benign 0.27 tolerated 1 A0A024QZX5 SERPINB6 Serpin B6 Ensembl,dbSNP rs267607037 [Ensembl]: Deafness, autosomal recessive 91 (dfnb91), [ClinVar]: Autosomal recessive nonsyndromic hearing loss 91 pubmed:20451170 6p25.2 6 2948696C> A null E * 249 249 stop gained 0 Autosomal recessive nonsyndromic hearing loss 91 MIM:613453 ClinVar:RCV000014571 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs747769939 6p25.2 6 2948687G> A null L F 252 252 missense 0.155 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1581225493 6p25.2 6 2948683G> A null T I 253 253 missense 0.98 probably damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs780927320 6p25.2 6 2948684T> A null T S 253 253 missense 0.144 benign 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1218441683 6p25.2 6 2948681A> C null Y D 254 254 missense 0.107 benign 0.03 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs779969884 cosmic curated [Cosmic]: upper_aerodigestive_tract pubmed:21798893,cosmic_study:349 6p25.2 6 2948669C> T null V I 258 258 missense 0.001 benign 0.45 tolerated 1 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1471324981 6p25.2 6 2948662C> T null W * 260 260 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs758304446 6p25.2 6 2948659G> A null T M 261 261 missense 0.931 probably damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1404747676 6p25.2 6 2948655C> A null R S 262 262 missense 0.013 benign 0.8 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1408365742 6p25.2 6 2948654G> T null L M 263 263 missense 0.831 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs754009164 6p25.2 6 2948648T> A null M L 265 265 missense 0.005 benign 0.67 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs754009164 6p25.2 6 2948648T> G null M L 265 265 missense 0.005 benign 0.67 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs754009164 6p25.2 6 2948648T> C null M V 265 265 missense 0.005 benign 0.52 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs764253709 6p25.2 6 2948643C> T null M I 266 266 missense 0.251 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1250641984 6p25.2 6 2948644A> G null M T 266 266 missense 0.887 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,gnomAD rs199796495 cosmic curated [Cosmic]: urinary_tract cosmic_study:413 6p25.2 6 2948633C> T null E K 270 270 0.0002 missense 0.074 benign 0.31 tolerated 1 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1581225193 6p25.2 6 2948629A> C null V G 271 271 missense 0.942 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1448411527 6p25.2 6 2948627C> A null E * 272 272 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1294142999 6p25.2 6 2948614G> A null P L 276 276 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs370396473 6p25.2 6 2948611C> A null R L 277 277 missense 0.803 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs370396473 6p25.2 6 2948611C> T null R Q 277 277 missense 0.789 possibly damaging 0.05 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs1451542842 6p25.2 6 2948612G> A null R W 277 277 missense 0.52 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs774866778 6p25.2 6 2948603G> C null L V 280 280 missense 0.878 possibly damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1327592660 6p25.2 6 2948599T> C null E G 281 281 missense 0.278 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs994520292 6p25.2 6 2948595T> G null E D 282 282 missense 0.035 benign 0.07 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs994520292 6p25.2 6 2948595T> A null E D 282 282 missense 0.035 benign 0.07 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs769195054 6p25.2 6 2948596T> A null E V 282 282 missense 0.921 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,gnomAD rs377464993 6p25.2 6 2948592G> C null S R 283 283 missense 0.02 benign 0.13 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs150294928 6p25.2 6 2948588C> G null D H 285 285 missense 0.964 probably damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs150294928 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue cosmic_study:440 6p25.2 6 2948588C> T null D N 285 285 missense 0.076 benign 0.16 tolerated 1 A0A024QZX5 SERPINB6 Serpin B6 ESP,TOPMed rs369931282 6p25.2 6 2948583C> A null M I 286 286 missense 0.335 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,dbSNP,gnomAD rs374321672 6p25.2 6 2948584A> G null M T 286 286 missense 0.735 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,gnomAD rs200574376 6p25.2 6 2948585T> C null M V 286 286 0.0002 missense 0.099 benign 0.03 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1581224955 6p25.2 6 2948579T> A null S C 288 288 missense 0.005 benign 0.05 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs758198797 6p25.2 6 2948575A> T null V D 289 289 missense 0.717 possibly damaging 0.08 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs778841769 6p25.2 6 2948570G> A null R C 291 291 missense 0.005 benign 0.31 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,gnomAD rs566604967 cosmic curated [Cosmic]: lung cosmic_study:418 6p25.2 6 2948569C> T null R H 291 291 0.0002 missense 0.013 benign 0.43 tolerated 1 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs912094262 6p25.2 6 2948560C> T null G D 294 294 missense 0.995 probably damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs912094262 6p25.2 6 2948560C> A null G V 294 294 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs756395142 6p25.2 6 2948548G> T null A D 298 298 missense 0.979 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs752907413 6p25.2 6 2948543C> T null E K 300 300 missense 0.375 benign 0.05 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs752907413 6p25.2 6 2948543C> G null E Q 300 300 missense 0.136 benign 0.43 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs767790339 6p25.2 6 2948537C> A null G C 302 302 missense 0.758 possibly damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1267953165 6p25.2 6 2948536C> T null G D 302 302 missense 0.012 benign 0.21 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1028904180 6p25.2 6 2948533T> G null K T 303 303 missense 0.02 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs774754668 6p25.2 6 2948530G> T null A E 304 304 missense 0.999 probably damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201754754 6p25.2 6 2948528C> T null D N 305 305 0.0002 missense 0.734 possibly damaging 0.09 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs924861233 6p25.2 6 2948521G> A null S F 307 307 missense 0.989 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1314436539 6p25.2 6 2948513A> G null S P 310 310 missense 0.076 benign 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs199881345 6p25.2 6 2948507T> C null T A 312 312 missense 0.0 benign 0.51 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs776317863 6p25.2 6 2948506G> A null T I 312 312 missense 0.01 benign 0.05 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs776317863 6p25.2 6 2948506G> C null T R 312 312 missense 0.0 benign 0.87 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs768273992 6p25.2 6 2948502G> T null D E 313 313 missense 0.031 benign 0.16 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1470729759 6p25.2 6 2948501G> C null L V 314 314 missense 0.999 probably damaging 0.1 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs1357095797 6p25.2 6 2948492A> G null S P 317 317 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1408198187 6p25.2 6 2948489T> C null K E 318 318 missense 0.026 benign 0.19 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl,dbSNP rs876657582 6p25.2 6 2948488T> C null K R 318 318 missense 0.025 benign 0.07 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs775223503 6p25.2 6 2948486C> A null V F 319 319 missense 0.622 possibly damaging 0.27 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs775223503 6p25.2 6 2948486C> T null V I 319 319 missense 0.398 benign 0.16 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,gnomAD rs550855004 6p25.2 6 2948483C> G null V L 320 320 0.0002 missense 0.18 benign 0.06 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs550855004 cosmic curated [Cosmic]: large_intestine cosmic_study:375 6p25.2 6 2948483C> T null V M 320 320 0.0002 missense 0.397 benign 0.07 tolerated 1 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1421111088 6p25.2 6 2948473G> C null S C 323 323 missense 0.813 possibly damaging 0.22 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1489213532 6p25.2 6 2948469A> C null F L 324 324 missense 0.97 probably damaging 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs745633507 6p25.2 6 2948470A> G null F S 324 324 missense 0.996 probably damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs756196273 6p25.2 6 2948458T> C null N S 328 328 missense 0.138 benign 0.03 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,gnomAD rs374188748 6p25.2 6 2948456C> T null E K 329 329 missense 0.74 possibly damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,dbSNP,gnomAD rs376116821 6p25.2 6 2948446G> A null T M 332 332 missense 0.998 probably damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs781438732 6p25.2 6 2948432C> A null A S 337 337 missense 0.702 possibly damaging 0.05 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs781438732 6p25.2 6 2948432C> T null A T 337 337 missense 0.575 possibly damaging 0.03 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs752001917 6p25.2 6 2948428G> A null T I 338 338 missense 0.988 probably damaging 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1581224287 6p25.2 6 2948429T> G null T P 338 338 missense 0.991 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC rs766618230 6p25.2 6 2948423C> G null A P 340 340 missense 0.059 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC rs763618033 6p25.2 6 2948422G> A null A V 340 340 missense 0.025 benign 0.53 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs750948748 6p25.2 6 2948417T> C null M V 342 342 missense 0.001 benign 0.72 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs763709966 6p25.2 6 2948412C> T null M I 343 343 missense 0.007 benign 0.39 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs760194824 6p25.2 6 2948407C> T null R Q 345 345 missense 0.052 benign 0.23 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs1280223777 6p25.2 6 2948408G> A null R W 345 345 missense 0.765 possibly damaging 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1581224183 6p25.2 6 2948405A> C null C G 346 346 missense 0.093 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1462226443 6p25.2 6 2948404C> T null C Y 346 346 missense 0.799 possibly damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs1034792235 6p25.2 6 2948402C> T null A T 347 347 missense 0.031 benign 0.27 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61737420 cosmic curated [Cosmic]: pancreas cosmic_study:382 6p25.2 6 2948393C> T null V I 350 350 0.003395 missense 0.003 benign 0.29 tolerated 1 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs759080903 6p25.2 6 2948390G> A null P S 351 351 missense 0.031 benign 0.05 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,dbSNP,gnomAD rs774270238 6p25.2 6 2948387G> A null R C 352 352 missense 0.033 benign 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs774270238 6p25.2 6 2948387G> C null R G 352 352 missense 0.409 benign 0.06 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs770619586 6p25.2 6 2948386C> T null R H 352 352 missense 0.021 benign 0.21 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1254023131 6p25.2 6 2948384A> T null F I 353 353 missense 0.584 possibly damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1254023131 6p25.2 6 2948384A> G null F L 353 353 missense 0.447 possibly damaging 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,gnomAD rs571608493 6p25.2 6 2948383A> G null F S 353 353 0.0002 missense 0.978 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs777623703 6p25.2 6 2948380C> T null C Y 354 354 missense 0.029 benign 0.27 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs972231546 6p25.2 6 2948378C> T null A T 355 355 missense 0.988 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,gnomAD rs199684069 6p25.2 6 2948375C> T null D N 356 356 0.0002 missense 0.322 benign 0.06 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs755264422 6p25.2 6 2948372G> A null H Y 357 357 missense 0.972 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1561667003 6p25.2 6 2948366A> G null F L 359 359 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1581223817 6p25.2 6 2948354T> C null I V 363 363 missense 0.767 possibly damaging 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs780521331 6p25.2 6 2948344C> G null S T 366 366 missense 0.007 benign 0.08 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1007283930 6p25.2 6 2948335T> C null N S 369 369 missense 0.013 benign 0.27 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs760282663 6p25.2 6 2948332C> G null G A 370 370 missense 0.001 benign 0.09 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs765798757 6p25.2 6 2948333C> T null G R 370 370 missense 0.284 benign 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs752293739 6p25.2 6 2948329A> T null I N 371 371 missense 0.97 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes rs200355535 6p25.2 6 2948327G> A null L F 372 372 0.0002 missense 0.983 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs773817659 6p25.2 6 2948323A> G null F S 373 373 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs762701058 cosmic curated [Cosmic]: large_intestine pubmed:22810696,cosmic_study:376 6p25.2 6 2948318C> T null G S 375 375 missense 0.994 probably damaging 0.0 deleterious 1 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,gnomAD rs192407835 6p25.2 6 2948317C> A null G V 375 375 0.0002 missense 0.996 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,gnomAD rs201117044 6p25.2 6 2948315G> A null R C 376 376 0.0002 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs748043996 6p25.2 6 2948314C> T null R H 376 376 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs776835532 6p25.2 6 2948312A> G null F L 377 377 missense 0.113 benign 0.08 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1161574229 6p25.2 6 2948308G> T null S Y 378 378 missense 0.882 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs747264946 6p25.2 6 2948305G> C null S C 379 379 missense 0.412 benign 0.03 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs747264946 6p25.2 6 2948305G> A null S F 379 379 missense 0.962 probably damaging 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs369004254 6p25.2 6 2948302G> A null P L 380 380 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs758863651 6p25.2 6 2948303G> A null P S 380 380 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs757907504 6p25.2 6 2948299C> G null * S 381 381 stop lost 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781952967 19q13.2 19 41708735G> T null E * 2 2 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781952967 19q13.2 19 41708735G> A null E K 2 2 missense 0.343 benign 0.27 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781952967 19q13.2 19 41708735G> C null E Q 2 2 missense 0.681 possibly damaging 0.15 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813329 19q13.2 19 41708738T> A null S T 3 3 missense 0.113 benign 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs267605502 19q13.2 19 41708742C> T null P L 4 4 missense 0.076 benign 0.19 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1342394678 19q13.2 19 41708744T> G null S A 5 5 missense 0.615 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs201518445 19q13.2 19 41708745C> T null S L 5 5 0.0002 missense 0.084 benign 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782150992 19q13.2 19 41708748C> T null A V 6 6 missense 0.031 benign 0.14 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1239120122 19q13.2 19 41708751C> T null P L 7 7 missense 0.503 possibly damaging 0.15 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1040941041 19q13.2 19 41708756C> G null H D 9 9 missense 0.185 benign 0.05 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782815290 19q13.2 19 41708757A> G null H R 9 9 missense 0.037 benign 0.34 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781793706 19q13.2 19 41708763G> A null W * 11 11 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1555813343 19q13.2 19 41708764G> T null W C 11 11 missense 0.879 possibly damaging 0.21 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781793706 19q13.2 19 41708763G> T null W L 11 11 missense 0.031 benign 0.86 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813340 19q13.2 19 41708762T> C null W R 11 11 missense 0.031 benign 0.79 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813344 19q13.2 19 41708766G> A null C Y 12 12 missense 0.07 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs200391100 19q13.2 19 41708770C> G null I M 13 13 missense 0.976 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782727394 19q13.2 19 41708771C> T null P S 14 14 missense 0.89 possibly damaging 0.15 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1287007958 19q13.2 19 41708774T> C null W R 15 15 missense 0.444 benign 0.1 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1026803117 19q13.2 19 41708777C> T null Q * 16 16 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs200859918 19q13.2 19 41708782G> C null R S 17 17 0.000399 missense 0.233 benign 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs781846226 19q13.2 19 41708781G> C null R T 17 17 missense 0.07 benign 0.09 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1336523706 19q13.2 19 41708783C> T null L F 18 18 missense 0.279 benign 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1336523706 19q13.2 19 41708783C> G null L V 18 18 missense 0.279 benign 0.05 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813351 19q13.2 19 41708790T> C null L P 20 20 missense 0.996 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782551516 19q13.2 19 41709680C> A null A D 22 22 missense 0.986 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782259884 cosmic curated [Cosmic]: central_nervous_system cosmic_study:329 19q13.2 19 41709692C> A null T N 26 26 missense 0.55 possibly damaging 0.05 deleterious 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813587 19q13.2 19 41709694T> A null F I 27 27 missense 0.979 probably damaging 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs369263590 19q13.2 19 41709698G> A null W * 28 28 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1600451752 19q13.2 19 41709701A> C null N T 29 29 missense 0.888 possibly damaging 0.17 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782202653 cosmic curated [Cosmic]: breast cosmic_study:414 19q13.2 19 41709704C> T null P L 30 30 missense 0.117 benign 1.0 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1390734199 19q13.2 19 41709706C> G null P A 31 31 missense 0.936 probably damaging 0.05 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1189230508 19q13.2 19 41709720G> C null K N 35 35 missense 0.127 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1368783171 19q13.2 19 41709718A> C null K Q 35 35 missense 0.0 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813620 19q13.2 19 41709725C> T null T I 37 37 missense 0.343 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782785872 19q13.2 19 41709728T> A null I N 38 38 missense 0.037 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782785872 19q13.2 19 41709728T> C null I T 38 38 missense 0.007 benign 0.13 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782156211 19q13.2 19 41709727A> G null I V 38 38 missense 0.023 benign 0.52 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs111403501 19q13.2 19 41709737C> T null T M 41 41 missense 0.01 benign 0.16 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782504876 19q13.2 19 41709740C> T null P L 42 42 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782504876 19q13.2 19 41709740C> A null P Q 42 42 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813639 19q13.2 19 41709742T> C null F L 43 43 missense 0.171 benign 0.67 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813643 19q13.2 19 41709745A> G null N D 44 44 missense 0.197 benign 0.35 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813653 19q13.2 19 41709747T> A null N K 44 44 missense 0.197 benign 0.22 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs140967734 19q13.2 19 41709746A> G null N S 44 44 missense 0.007 benign 0.21 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs140967734 19q13.2 19 41709746A> C null N T 44 44 missense 0.138 benign 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140477498 19q13.2 19 41709751G> C null A P 46 46 0.02236 missense 0.986 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140477498 19q13.2 19 41709751G> A null A T 46 46 0.02236 missense 0.54 possibly damaging 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1298504126 19q13.2 19 41709763G> C null E Q 50 50 missense 0.915 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1600451968 19q13.2 19 41709767T> G null V G 51 51 missense 0.958 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813668 19q13.2 19 41709769C> A null L I 52 52 missense 0.444 benign 0.05 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1316165149 19q13.2 19 41709775C> T null L F 54 54 missense 0.976 probably damaging 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813676 19q13.2 19 41709779T> C null V A 55 55 missense 0.01 benign 0.33 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1400006391 19q13.2 19 41709783C> A null H Q 56 56 missense 0.713 possibly damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782298600 19q13.2 19 41709781C> T null H Y 56 56 missense 0.108 benign 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782423973 19q13.2 19 41709785A> G null N S 57 57 missense 0.402 benign 0.09 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1391241304 19q13.2 19 41709784A> T null N Y 57 57 missense 0.219 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813679 19q13.2 19 41709797A> G null H R 61 61 missense 0.0 benign 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782251588 19q13.2 19 41709819C> G null Y * 68 68 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes rs202184382 19q13.2 19 41709818A> G null Y C 68 68 0.0002 missense 0.2 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782363167 19q13.2 19 41709824G> A null G D 70 70 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs201178300 19q13.2 19 41709826G> A null E K 71 71 0.000599 missense 0.321 benign 0.24 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782032742 19q13.2 19 41709833T> C null V A 73 73 missense 0.839 possibly damaging 0.2 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813693 19q13.2 19 41709832G> C null V L 73 73 missense 0.396 benign 0.1 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813698 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 19q13.2 19 41709835G> A null D N 74 74 missense 0.236 benign 0.1 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782789683 19q13.2 19 41709842A> C null N T 76 76 missense 0.084 benign 0.5 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs781851303 19q13.2 19 41709844C> T null R C 77 77 missense 0.009 benign 0.15 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs137884611 19q13.2 19 41709845G> A null R H 77 77 0.0002 missense 0.003 benign 0.94 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1363161517 19q13.2 19 41709849A> C null Q H 78 78 missense 0.482 possibly damaging 0.48 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813704 19q13.2 19 41709851T> G null I S 79 79 missense 0.962 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs201527439 19q13.2 19 41709854T> C null I T 80 80 missense 0.015 benign 0.23 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs12971352 19q13.2 19 41709853A> G null I V 80 80 0.1633 missense 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs143925794 19q13.2 19 41709860A> G null Y C 82 82 missense 0.221 benign 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs143925794 19q13.2 19 41709860A> T null Y F 82 82 missense 0.855 possibly damaging 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28683503 19q13.2 19 41709863T> C null V A 83 83 0.1623 missense 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC rs782622659 19q13.2 19 41709866T> A null I K 84 84 missense 0.113 benign 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782215853 19q13.2 19 41709869G> T null G V 85 85 missense 0.124 benign 0.13 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782327893 19q13.2 19 41709872C> T null T I 86 86 missense 0.015 benign 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782327893 19q13.2 19 41709872C> G null T S 86 86 missense 0.025 benign 0.42 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1015363581 19q13.2 19 41709878A> C null Q P 88 88 missense 0.284 benign 0.26 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1364668359 19q13.2 19 41709887C> T null P L 91 91 missense 0.108 benign 0.38 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1364668359 19q13.2 19 41709887C> G null P R 91 91 missense 0.108 benign 0.22 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1568699121 19q13.2 19 41709886C> T null P S 91 91 missense 0.171 benign 0.23 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782417451 19q13.2 19 41709895G> T null A S 94 94 missense 0.949 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782417451 19q13.2 19 41709895G> A null A T 94 94 missense 0.596 possibly damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs113590637 19q13.2 19 41709898T> A null Y N 95 95 missense 0.155 benign 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs755587636 19q13.2 19 41709901A> G null S G 96 96 missense 0.931 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781950072 19q13.2 19 41709904G> T null G C 97 97 missense 0.89 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1478679920 19q13.2 19 41709905G> A null G D 97 97 missense 0.599 possibly damaging 0.09 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs939162828 19q13.2 19 41709907C> T null R * 98 98 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782062081 19q13.2 19 41709908G> A null R Q 98 98 missense 0.842 possibly damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782691295 19q13.2 19 41709911A> G null E G 99 99 missense 0.951 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1490294094 19q13.2 19 41709913A> T null I L 100 100 missense 0.015 benign 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs112905632 19q13.2 19 41709914T> C null I T 100 100 0.03395 missense 0.0 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,gnomAD rs377584490 19q13.2 19 41709917T> C null I T 101 101 missense 0.062 benign 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1272452547 19q13.2 19 41709921C> A null Y * 102 102 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782783323 19q13.2 19 41709919T> C null Y H 102 102 missense 0.341 benign 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782783323 19q13.2 19 41709919T> A null Y N 102 102 missense 0.108 benign 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs74626868 19q13.2 19 41709922C> T null P S 103 103 0.006989 missense 0.122 benign 0.38 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs74626868 19q13.2 19 41709922C> A null P T 103 103 0.006989 missense 0.237 benign 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs370822239 19q13.2 19 41709926A> G null N S 104 104 missense 0.55 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1402981682 19q13.2 19 41709929C> G null A G 105 105 missense 0.219 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1402981682 19q13.2 19 41709929C> T null A V 105 105 missense 0.32 benign 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs150911810 19q13.2 19 41709932C> G null S C 106 106 missense 0.982 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813745 19q13.2 19 41709931T> A null S T 106 106 missense 0.219 benign 0.1 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1411339693 19q13.2 19 41709937C> A null L M 108 108 missense 0.991 probably damaging 0.09 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782552359 19q13.2 19 41709938T> C null L P 108 108 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782667351 19q13.2 19 41709942C> G null I M 109 109 missense 0.408 benign 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782256585 19q13.2 19 41709947A> C null N T 111 111 missense 0.94 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs34155934 19q13.2 19 41709949A> G null I V 112 112 0.1296 missense 0.006 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35091611 19q13.2 19 41709953T> C null I T 113 113 0.1296 missense 0.0 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813759 19q13.2 19 41709957G> T null Q H 114 114 missense 0.201 benign 0.13 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs375689687 19q13.2 19 41709959A> T null N I 115 115 missense 0.972 probably damaging 0.05 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs375689687 19q13.2 19 41709959A> G null N S 115 115 missense 0.216 benign 0.22 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1480379979 19q13.2 19 41709965C> A null T K 117 117 missense 0.408 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782323435 19q13.2 19 41709968G> C null G A 118 118 missense 0.889 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs781974521 19q13.2 19 41709973T> C null Y H 120 120 missense 0.91 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782400172 19q13.2 19 41709976A> T null T S 121 121 missense 0.783 possibly damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs781988963 19q13.2 19 41709979C> A null L I 122 122 missense 0.435 benign 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143742915 19q13.2 19 41709984C> A null H Q 123 123 0.001797 missense 0.003 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs550154092 19q13.2 19 41709985G> A null V I 124 124 0.0002 missense 0.187 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed rs782811516 19q13.2 19 41709990A> G null I M 125 125 missense 0.991 probably damaging 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813778 19q13.2 19 41709992A> T null K M 126 126 missense 0.27 benign 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146721225 19q13.2 19 41709999T> A null D E 128 128 0.000599 missense 0.912 probably damaging 0.23 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1221661282 19q13.2 19 41709998A> T null D V 128 128 missense 0.973 probably damaging 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813786 19q13.2 19 41710000C> T null L F 129 129 missense 0.513 possibly damaging 0.89 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1288821853 19q13.2 19 41710003G> A null V M 130 130 missense 0.627 possibly damaging 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs148884404 19q13.2 19 41710011A> T null E D 132 132 missense 0.783 possibly damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1278611348 19q13.2 19 41710022G> A null G D 136 136 missense 0.987 probably damaging 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs3815780 19q13.2 19 41710025A> T null Q L 137 137 0.003195 missense 0.29 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs3815780 cosmic curated [Cosmic]: stomach cosmic_study:371 19q13.2 19 41710025A> C null Q P 137 137 0.003195 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782477374 cosmic curated [Cosmic]: skin pubmed:21984974,cosmic_study:357 19q13.2 19 41710031G> A null R Q 139 139 missense 0.165 benign 0.15 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs200369485 19q13.2 19 41710030C> T null R W 139 139 0.001797 missense 0.011 benign 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813805 19q13.2 19 41710038C> G null Y * 141 141 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813807 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 19q13.2 19 41710039C> G null P A 142 142 missense 0.167 benign 0.15 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1054821520 19q13.2 19 41714971C> T null P L 142 142 missense 0.097 benign 0.33 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813807 19q13.2 19 41710039C> T null P S 142 142 missense 0.205 benign 0.25 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1600460299 19q13.2 19 41714977T> C null L P 144 144 missense 0.034 benign 0.05 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs373889998 19q13.2 19 41714989C> T null S F 148 148 missense 0.023 benign 0.62 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs916790457 19q13.2 19 41714992T> C null I T 149 149 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782137330 19q13.2 19 41714991A> G null I V 149 149 missense 0.591 possibly damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143589559 19q13.2 19 41714998G> A null S N 151 151 0.0002 missense 0.993 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814620 19q13.2 19 41715004A> G null N S 153 153 missense 0.859 possibly damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814620 19q13.2 19 41715004A> C null N T 153 153 missense 0.859 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs781845608 19q13.2 19 41715006T> G null S A 154 154 missense 0.91 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1359926864 19q13.2 19 41715012C> A null P T 156 156 missense 0.998 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs368068137 19q13.2 19 41715015G> C null V L 157 157 missense 0.509 possibly damaging 0.16 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs368068137 cosmic curated [Cosmic]: central_nervous_system pubmed:23917401,cosmic_study:329,cosmic_study:552 19q13.2 19 41715015G> A null V M 157 157 missense 0.716 possibly damaging 0.18 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1373488448 19q13.2 19 41715022A> G null D G 159 159 missense 0.846 possibly damaging 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814633 19q13.2 19 41715030G> A null A T 162 162 missense 0.912 probably damaging 0.76 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs902700262 19q13.2 19 41715031C> T null A V 162 162 missense 0.268 benign 0.33 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs371758270 19q13.2 19 41715033G> A null V M 163 163 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1040433933 19q13.2 19 41715042A> C null T P 166 166 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1600460483 19q13.2 19 41715050A> C null E D 168 168 missense 0.039 benign 0.19 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781871350 19q13.2 19 41715051C> T null P S 169 169 missense 0.805 possibly damaging 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs60336130 19q13.2 19 41715056G> T null E D 170 170 missense 0.044 benign 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115472929 19q13.2 19 41715065C> A null D E 173 173 0.009585 missense 0.172 benign 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115472929 19q13.2 19 41715065C> G null D E 173 173 0.009585 missense 0.172 benign 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs368142383 cosmic curated [Cosmic]: breast pubmed:22722201,cosmic_study:385 19q13.2 19 41715063G> A null D N 173 173 missense 0.015 benign 1.0 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782212178 19q13.2 19 41715066G> A null A T 174 174 missense 0.0 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814650 19q13.2 19 41715070C> T null T I 175 175 missense 0.997 probably damaging 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782564710 19q13.2 19 41715073A> G null Y C 176 176 missense 0.632 possibly damaging 0.05 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782396480 19q13.2 19 41715083G> T null W C 179 179 missense 0.991 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782288851 19q13.2 19 41715082G> C null W S 179 179 missense 0.982 probably damaging 0.28 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs781992472 19q13.2 19 41715084G> A null V I 180 180 missense 0.435 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs140663408 19q13.2 19 41715089C> A null N K 181 181 missense 0.125 benign 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782103200 19q13.2 19 41715088A> G null N S 181 181 missense 0.342 benign 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814658 19q13.2 19 41715090A> G null N D 182 182 missense 0.164 benign 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814661 19q13.2 19 41715091A> G null N S 182 182 missense 0.32 benign 0.46 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs147510914 cosmic curated [Cosmic]: skin pubmed:21499247,cosmic_study:348 19q13.2 19 41715097G> A null S N 184 184 missense 0.709 possibly damaging 0.08 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1234442415 19q13.2 19 41715099C> T null L F 185 185 missense 0.76 possibly damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs113097830 19q13.2 19 41715103C> T null P L 186 186 0.002596 missense 0.028 benign 0.24 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs113097830 19q13.2 19 41715103C> A null P Q 186 186 0.002596 missense 0.608 possibly damaging 0.25 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814674 19q13.2 19 41715120C> G null Q E 192 192 missense 0.009 benign 0.83 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782751995 19q13.2 19 41715122G> C null Q H 192 192 missense 0.75 possibly damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814676 19q13.2 19 41715129A> C null N H 195 195 missense 0.921 probably damaging 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1374478613 19q13.2 19 41715133G> A null G D 196 196 missense 0.025 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1374478613 19q13.2 19 41715133G> T null G V 196 196 missense 0.947 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781785530 19q13.2 19 41715137C> A null N K 197 197 missense 0.854 possibly damaging 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782660405 19q13.2 19 41715139G> A null R K 198 198 missense 0.91 probably damaging 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1436036251 19q13.2 19 41715144C> G null L V 200 200 missense 0.969 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782258088 19q13.2 19 41715148C> T null T I 201 201 missense 0.991 probably damaging 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC rs782503209 19q13.2 19 41715154T> C null F S 203 203 missense 0.275 benign 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782602037 19q13.2 19 41715160T> C null V A 205 205 missense 0.954 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782198510 19q13.2 19 41715163C> T null T I 206 206 missense 0.991 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs562617012 19q13.2 19 41715166G> A null R K 207 207 0.0002 missense 0.91 probably damaging 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1419342024 19q13.2 19 41715169A> T null N I 208 208 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1482649811 19q13.2 19 41715172A> G null D G 209 209 missense 0.987 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1482649811 19q13.2 19 41715172A> T null D V 209 209 missense 0.996 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1175282299 19q13.2 19 41715171G> T null D Y 209 209 missense 0.997 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs17853315 19q13.2 19 41715174A> G null T A 210 210 missense 0.051 benign 0.16 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs17853315 19q13.2 19 41715174A> T null T S 210 210 missense 0.051 benign 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782039954 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 19q13.2 19 41715178C> A null A E 211 211 missense 0.62 possibly damaging 0.0 deleterious 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782039954 19q13.2 19 41715178C> G null A G 211 211 missense 0.006 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1486684273 19q13.2 19 41715177G> A null A T 211 211 missense 0.538 possibly damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1005474927 19q13.2 19 41715181G> A null S N 212 212 missense 0.062 benign 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs533268241 19q13.2 19 41715180A> C null S R 212 212 0.0002 missense 0.063 benign 0.05 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781991272 19q13.2 19 41715183T> C null Y H 213 213 missense 0.986 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782093327 19q13.2 19 41715189T> C null C R 215 215 missense 0.983 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375538670 19q13.2 19 41715194A> T null E D 216 216 0.000998 missense 0.379 benign 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1232759988 19q13.2 19 41715192G> A null E K 216 216 missense 0.379 benign 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781931742 19q13.2 19 41715199A> G null Q R 218 218 missense 0.888 possibly damaging 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs369870451 19q13.2 19 41715201A> C null N H 219 219 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141597462 19q13.2 19 41715202A> G null N S 219 219 0.000799 missense 0.953 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782511943 19q13.2 19 41715204C> G null P A 220 220 missense 0.222 benign 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782753397 19q13.2 19 41715205C> T null P L 220 220 missense 0.541 possibly damaging 0.09 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782511943 19q13.2 19 41715204C> T null P S 220 220 missense 0.039 benign 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782511943 19q13.2 19 41715204C> A null P T 220 220 missense 0.303 benign 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781830094 19q13.2 19 41715207G> A null V M 221 221 missense 0.986 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs372254328 19q13.2 19 41715210A> G null S G 222 222 missense 0.916 probably damaging 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782292675 19q13.2 19 41715214C> A null A D 223 223 missense 0.387 benign 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782583835 19q13.2 19 41715213G> A null A T 223 223 missense 0.093 benign 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782292675 19q13.2 19 41715214C> T null A V 223 223 missense 0.003 benign 0.36 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814732 19q13.2 19 41715216A> G null R G 224 224 missense 0.142 benign 0.59 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150900406 cosmic curated [Cosmic]: large_intestine, [Cosmic]: biliary_tract pubmed:22810696,pubmed:24185509,cosmic_study:376,cosmic_study:553 19q13.2 19 41715219C> T null R C 225 225 0.000599 missense 0.988 probably damaging 0.07 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150900406 19q13.2 19 41715219C> G null R G 225 225 0.000599 missense 0.969 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs376770900 19q13.2 19 41715220G> A null R H 225 225 missense 0.984 probably damaging 0.26 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs376770900 19q13.2 19 41715220G> T null R L 225 225 missense 0.969 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150900406 19q13.2 19 41715219C> A null R S 225 225 0.000599 missense 0.969 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814742 19q13.2 19 41715229C> T null S L 228 228 missense 0.0 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782136127 19q13.2 19 41715232T> C null V A 229 229 missense 0.173 benign 0.1 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814745 19q13.2 19 41715231G> C null V L 229 229 missense 0.001 benign 0.33 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,gnomAD rs368912460 19q13.2 19 41715236C> G null I M 230 230 missense 0.138 benign 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1189942967 19q13.2 19 41715235T> A null I N 230 230 missense 0.001 benign 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes rs199564277 19q13.2 19 41715238T> C null L P 231 231 missense 0.964 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs781976338 19q13.2 19 41715242T> A null N K 232 232 missense 0.924 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814751 19q13.2 19 41715249T> C null Y H 235 235 missense 0.998 probably damaging 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs200472113 cosmic curated [Cosmic]: liver cosmic_study:381 19q13.2 19 41715656C> T null P L 237 237 0.0002 missense 0.998 probably damaging 0.05 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs200472113 19q13.2 19 41715656C> G null P R 237 237 0.0002 missense 0.999 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814888 19q13.2 19 41715655C> A null P T 237 237 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,TOPMed,gnomAD rs199857011 19q13.2 19 41715661G> T null A S 239 239 missense 0.142 benign 0.2 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,TOPMed,gnomAD rs199857011 19q13.2 19 41715661G> A null A T 239 239 missense 0.01 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs781981768 19q13.2 19 41715668C> T null T I 241 241 missense 0.042 benign 0.43 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814893 19q13.2 19 41715670A> G null I V 242 242 missense 0.318 benign 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1412930045 19q13.2 19 41715676C> T null P S 244 244 missense 0.998 probably damaging 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814899 19q13.2 19 41715695G> A null R K 250 250 missense 0.05 benign 0.27 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1159428567 19q13.2 19 41715698C> T null S L 251 251 missense 0.0 benign 0.44 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs781924507 19q13.2 19 41715703G> A null E K 253 253 missense 0.067 benign 0.44 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP rs149409426 19q13.2 19 41715713A> G null N S 256 256 missense 0.007 benign 0.97 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP rs149409426 19q13.2 19 41715713A> C null N T 256 256 missense 0.015 benign 0.24 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200945684 19q13.2 19 41715712A> T null N Y 256 256 0.000599 missense 0.693 possibly damaging 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1600462368 19q13.2 19 41715718T> C null S P 258 258 missense 0.7 possibly damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs140053609 19q13.2 19 41715727G> A null A T 261 261 0.0002 missense 0.342 benign 0.37 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1284503220 19q13.2 19 41715734C> G null S C 263 263 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1600462407 19q13.2 19 41715736A> G null N D 264 264 missense 0.031 benign 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782747516 19q13.2 19 41715737A> G null N S 264 264 missense 0.558 possibly damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144819038 19q13.2 19 41715740C> T null P L 265 265 0.0002 missense 0.982 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782557844 19q13.2 19 41715743C> T null P L 266 266 missense 0.26 benign 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782528208 19q13.2 19 41715749A> G null Q R 268 268 missense 0.917 probably damaging 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1233774622 19q13.2 19 41715751T> C null Y H 269 269 missense 0.98 probably damaging 0.05 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814920 19q13.2 19 41715754T> C null S P 270 270 missense 0.551 possibly damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1357307683 19q13.2 19 41715758G> A null W * 271 271 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1357307683 19q13.2 19 41715758G> C null W S 271 271 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1568704155 19q13.2 19 41715760T> C null F L 272 272 missense 0.0 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,TOPMed rs148587179 19q13.2 19 41715763G> A null V I 273 273 missense 0.003 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782355979 19q13.2 19 41715767A> G null N S 274 274 missense 0.094 benign 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782242021 19q13.2 19 41715766A> T null N Y 274 274 missense 0.923 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814930 19q13.2 19 41715769G> A null G R 275 275 missense 0.943 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814932 19q13.2 19 41715773C> A null T N 276 276 missense 0.001 benign 0.2 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782594703 19q13.2 19 41715772A> T null T S 276 276 missense 0.005 benign 0.57 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814936 19q13.2 19 41715775T> A null F I 277 277 missense 0.011 benign 0.39 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814939 19q13.2 19 41715777C> A null F L 277 277 missense 0.0 benign 0.66 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782180675 19q13.2 19 41715776T> C null F S 277 277 missense 0.079 benign 0.4 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814941 19q13.2 19 41715778C> T null Q * 278 278 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782438192 19q13.2 19 41715781C> T null Q * 279 279 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814943 19q13.2 19 41715784T> C null S P 280 280 missense 0.145 benign 0.17 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814944 19q13.2 19 41715785C> A null S Y 280 280 missense 0.988 probably damaging 0.17 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1050523075 19q13.2 19 41715788C> T null T I 281 281 missense 0.881 possibly damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs61735258 19q13.2 19 41715791A> G null Q R 282 282 missense 0.475 possibly damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs182078144 19q13.2 19 41715793G> C null E Q 283 283 0.0002 missense 0.158 benign 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC rs782375838 19q13.2 19 41715799T> C null F L 285 285 missense 0.007 benign 0.26 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs201961466 19q13.2 19 41715809A> G null N S 288 288 missense 0.028 benign 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782088161 19q13.2 19 41715814A> C null T P 290 290 missense 0.858 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs887900962 19q13.2 19 41715817G> A null V M 291 291 missense 0.865 possibly damaging 0.29 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs781788150 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 19q13.2 19 41715821A> G null N S 292 292 missense 0.058 benign 0.23 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs781788150 19q13.2 19 41715821A> C null N T 292 292 missense 0.393 benign 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1600462781 19q13.2 19 41715830G> A null G E 295 295 missense 0.989 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814962 19q13.2 19 41715833C> G null S C 296 296 missense 0.85 possibly damaging 0.15 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782156563 19q13.2 19 41715836A> G null Y C 297 297 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782807202 19q13.2 19 41715839C> A null T K 298 298 missense 0.446 possibly damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782807202 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine pubmed:22891273,pubmed:22895193,cosmic_study:452,cosmic_study:457 19q13.2 19 41715839C> T null T M 298 298 missense 0.039 benign 0.06 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs111739385 19q13.2 19 41715848C> T null A V 301 301 0.008986 missense 0.007 benign 0.68 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781818432 19q13.2 19 41715851A> G null H R 302 302 missense 0.306 benign 0.18 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782686634 19q13.2 19 41715860A> C null D A 305 305 missense 0.0 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814973 19q13.2 19 41715859G> A null D N 305 305 missense 0.044 benign 0.28 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,gnomAD rs370386394 19q13.2 19 41715865G> T null G C 307 307 missense 0.05 benign 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1463289577 19q13.2 19 41715868C> T null L F 308 308 missense 0.982 probably damaging 0.19 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782392674 19q13.2 19 41715871A> G null N D 309 309 missense 0.281 benign 0.05 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782651082 19q13.2 19 41715873T> A null N K 309 309 missense 0.373 benign 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782392674 19q13.2 19 41715871A> T null N Y 309 309 missense 0.076 benign 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782224739 19q13.2 19 41715887C> T null T M 314 314 missense 0.614 possibly damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs201986383 19q13.2 19 41715890C> T null T M 315 315 0.0002 missense 0.725 possibly damaging 0.21 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814987 19q13.2 19 41715901T> C null Y H 319 319 missense 0.381 benign 0.53 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC rs201034775 19q13.2 19 41715902A> C null Y S 319 319 0.0002 missense 0.0 benign 0.44 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,TOPMed rs146058300 19q13.2 19 41715904G> T null A S 320 320 missense 0.693 possibly damaging 0.41 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781930149 19q13.2 19 41717463C> G null P A 323 323 missense 0.021 benign 0.32 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781930149 19q13.2 19 41717463C> T null P S 323 323 missense 0.003 benign 0.28 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782799284 19q13.2 19 41717469C> T null P S 325 325 missense 0.988 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs570298013 19q13.2 19 41717473T> C null F S 326 326 0.0002 missense 0.0 benign 0.92 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs75927810 19q13.2 19 41717499G> T null V L 335 335 0.01937 missense 0.001 benign 0.26 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs75927810 cosmic curated [Cosmic]: thyroid cosmic_study:589 19q13.2 19 41717499G> A null V M 335 335 0.01937 missense 0.001 benign 0.07 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1378605912 19q13.2 19 41717507T> G null D E 337 337 missense 0.059 benign 0.65 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815248 cosmic curated [Cosmic]: breast cosmic_study:414 19q13.2 19 41717505G> A null D N 337 337 missense 0.003 benign 0.74 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782448402 19q13.2 19 41717506A> T null D V 337 337 missense 0.233 benign 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1201580988 19q13.2 19 41717510G> C null E D 338 338 missense 0.0 benign 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142727064 19q13.2 19 41717512A> T null D V 339 339 0.0002 missense 0.84 possibly damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs10407503 19q13.2 19 41717515C> A null A D 340 340 0.04672 missense 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10407503 19q13.2 19 41717515C> G null A G 340 340 0.04672 missense 0.014 benign 0.17 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815252 19q13.2 19 41717517G> A null V I 341 341 missense 0.035 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs139130037 19q13.2 19 41717520G> A null A T 342 342 missense 0.0 benign 0.33 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1568706287 19q13.2 19 41717530G> C null C S 345 345 missense 0.969 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1194917049 19q13.2 19 41717550A> G null T A 352 352 missense 0.059 benign 0.17 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815255 19q13.2 19 41717553A> C null T P 353 353 missense 0.233 benign 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs928991669 19q13.2 19 41717560T> G null L R 355 355 missense 0.829 possibly damaging 0.58 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782585404 19q13.2 19 41717564G> A null W * 356 356 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815261 19q13.2 19 41717567G> C null W C 357 357 missense 0.373 benign 0.1 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782187530 19q13.2 19 41717568G> A null V I 358 358 missense 0.0 benign 0.3 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs372398696 19q13.2 19 41717572A> G null N S 359 359 missense 0.029 benign 0.05 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782300892 19q13.2 19 41717574A> G null N D 360 360 missense 0.003 benign 0.28 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs534720244 19q13.2 19 41717575A> G null N S 360 360 0.0002 missense 0.0 benign 0.18 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1322740937 19q13.2 19 41717577C> A null Q K 361 361 missense 0.0 benign 0.13 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815264 19q13.2 19 41717581G> C null S T 362 362 missense 0.255 benign 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782270981 19q13.2 19 41717583C> T null L F 363 363 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs376831302 19q13.2 19 41717587C> T null P L 364 364 missense 0.0 benign 0.47 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782382763 19q13.2 19 41717586C> A null P T 364 364 missense 0.007 benign 0.49 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782730168 cosmic curated [Cosmic]: kidney cosmic_study:416 19q13.2 19 41717596C> T null P L 367 367 missense 0.005 benign 0.12 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1337664472 19q13.2 19 41717595C> T null P S 367 367 missense 0.0 benign 0.44 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815270 19q13.2 19 41717600G> T null R S 368 368 missense 0.969 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781922382 19q13.2 19 41717602T> C null L P 369 369 missense 0.914 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782165010 19q13.2 19 41717605A> T null Q L 370 370 missense 0.006 benign 0.21 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815276 19q13.2 19 41717613A> G null N D 373 373 missense 0.003 benign 0.48 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs553202248 19q13.2 19 41717615T> A null N K 373 373 0.0002 missense 0.0 benign 0.75 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782501998 19q13.2 19 41717617A> G null D G 374 374 missense 0.007 benign 0.3 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs199819373 19q13.2 19 41717626C> T null T I 377 377 missense 0.033 benign 0.15 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs199819373 cosmic curated [Cosmic]: kidney cosmic_study:416 19q13.2 19 41717626C> A null T N 377 377 missense 0.537 possibly damaging 0.04 deleterious 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs145041033 19q13.2 19 41717632C> T null T I 379 379 missense 0.988 probably damaging 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815287 19q13.2 19 41717634C> A null L I 380 380 missense 0.003 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149110921 19q13.2 19 41717635T> C null L P 380 380 0.0002 missense 0.311 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1555815289 19q13.2 19 41717637C> T null L F 381 381 missense 0.0 benign 0.71 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782534291 19q13.2 19 41717640A> T null S C 382 382 missense 0.132 benign 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782632166 19q13.2 19 41717641G> A null S N 382 382 missense 0.0 benign 0.23 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782351981 19q13.2 19 41717655G> A null D N 387 387 missense 0.982 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed rs146243423 19q13.2 19 41717664C> A null P T 390 390 missense 0.033 benign 0.41 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815303 19q13.2 19 41717668A> G null Y C 391 391 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1180592544 19q13.2 19 41717670G> A null E K 392 392 missense 0.003 benign 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815305 19q13.2 19 41717674G> T null C F 393 393 missense 0.989 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1010263102 19q13.2 19 41717682C> A null Q K 396 396 missense 0.157 benign 0.74 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs7249230 19q13.2 19 41717688G> T null E * 398 398 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs7249230 19q13.2 19 41717688G> A null E K 398 398 missense 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs7249230 19q13.2 19 41717688G> C null E Q 398 398 missense 0.173 benign 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141152395 19q13.2 19 41717695G> T null S I 400 400 0.0002 missense 0.983 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1268666698 19q13.2 19 41717697G> A null V I 401 401 missense 0.632 possibly damaging 0.21 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1230182712 19q13.2 19 41717706A> G null S G 404 404 missense 0.961 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199938455 19q13.2 19 41717709G> A null D N 405 405 0.0002 missense 0.992 probably damaging 0.1 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815323 19q13.2 19 41717715G> A null V I 407 407 missense 0.949 probably damaging 0.62 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201856501 19q13.2 19 41717719T> C null I T 408 408 0.0002 missense 0.0 benign 0.7 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs782016288 19q13.2 19 41717722T> G null L R 409 409 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs973143222 19q13.2 19 41717725A> G null N S 410 410 missense 0.979 probably damaging 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs148011427 19q13.2 19 41718139G> C null D H 417 417 missense 0.378 benign 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs148011427 19q13.2 19 41718139G> A null D N 417 417 missense 0.023 benign 0.5 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782474709 19q13.2 19 41718143C> A null P H 418 418 missense 0.997 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1223468320 19q13.2 19 41718142C> T null P S 418 418 missense 0.991 probably damaging 0.15 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1223468320 19q13.2 19 41718142C> A null P T 418 418 missense 0.994 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1308531464 19q13.2 19 41718145A> G null T A 419 419 missense 0.4 benign 0.66 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782603077 19q13.2 19 41718146C> T null T I 419 419 missense 0.026 benign 0.28 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782184553 19q13.2 19 41718148A> G null I V 420 420 missense 0.743 possibly damaging 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150455412 19q13.2 19 41718152C> G null S C 421 421 0.000599 missense 0.992 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150455412 cosmic curated [Cosmic]: skin pubmed:24838835,cosmic_study:578 19q13.2 19 41718152C> T null S F 421 421 0.000599 missense 0.989 probably damaging 0.08 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150455412 19q13.2 19 41718152C> A null S Y 421 421 0.000599 missense 0.989 probably damaging 0.15 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782276798 19q13.2 19 41718154C> T null P S 422 422 missense 0.991 probably damaging 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781969946 19q13.2 19 41718162C> G null Y * 424 424 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815392 19q13.2 19 41718167A> G null Y C 426 426 missense 0.895 possibly damaging 0.14 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782322278 19q13.2 19 41718170A> G null Y C 427 427 missense 0.995 probably damaging 0.05 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs368617829 19q13.2 19 41718172C> T null R C 428 428 missense 0.881 possibly damaging 0.17 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs371542733 19q13.2 19 41718173G> A null R H 428 428 missense 0.012 benign 0.61 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs782431372 19q13.2 19 41718181G> A null V M 431 431 missense 0.773 possibly damaging 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815400 19q13.2 19 41718184A> G null N D 432 432 missense 0.4 benign 0.36 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1600467284 19q13.2 19 41718185A> C null N T 432 432 missense 0.255 benign 0.16 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782799653 19q13.2 19 41718188T> C null L P 433 433 missense 0.994 probably damaging 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1600467322 19q13.2 19 41718196T> C null S P 436 436 missense 0.972 probably damaging 0.05 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782113990 19q13.2 19 41718197C> A null S Y 436 436 missense 0.989 probably damaging 0.19 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs868995827 19q13.2 19 41718203A> G null H R 438 438 missense 0.948 probably damaging 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782677397 19q13.2 19 41718215A> G null N S 442 442 missense 0.969 probably damaging 0.25 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815411 19q13.2 19 41718224C> T null A V 445 445 missense 0.98 probably damaging 0.49 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782459879 19q13.2 19 41718226C> G null Q E 446 446 missense 0.83 possibly damaging 0.6 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815416 19q13.2 19 41718235T> G null W G 449 449 missense 0.969 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815420 19q13.2 19 41718243T> G null I M 451 451 missense 0.906 possibly damaging 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs112998286 19q13.2 19 41718242T> A null I N 451 451 missense 0.906 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815422 19q13.2 19 41718244G> A null D N 452 452 missense 0.059 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1417465245 19q13.2 19 41718247G> A null G R 453 453 missense 0.999 probably damaging 0.37 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1407503956 19q13.2 19 41718254T> A null I N 455 455 missense 0.26 benign 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815427 19q13.2 19 41718253A> G null I V 455 455 missense 0.006 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs557404221 19q13.2 19 41718257A> G null Q R 456 456 0.0002 missense 0.922 probably damaging 0.19 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815429 19q13.2 19 41718262C> T null H Y 458 458 missense 0.495 possibly damaging 0.72 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1446779145 19q13.2 19 41718268C> T null Q * 460 460 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1241705361 19q13.2 19 41718281T> C null I T 464 464 missense 0.423 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs140159293 cosmic curated [Cosmic]: skin pubmed:21499247,cosmic_study:348 19q13.2 19 41718287A> G null N S 466 466 missense 0.969 probably damaging 0.05 deleterious 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs983229008 19q13.2 19 41718291C> G null I M 467 467 missense 0.977 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782648704 19q13.2 19 41718293C> T null T I 468 468 missense 0.991 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815446 19q13.2 19 41718302A> G null N S 471 471 missense 0.969 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs376701458 cosmic curated [Cosmic]: urinary_tract, [Cosmic]: endometrium cosmic_study:413,cosmic_study:419 19q13.2 19 41718307G> A null G R 473 473 missense 0.046 benign 0.02 deleterious 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815452 19q13.2 19 41718317C> T null T I 476 476 missense 0.494 possibly damaging 0.09 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782176320 19q13.2 19 41718316A> C null T P 476 476 missense 0.899 possibly damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC rs782441524 19q13.2 19 41718322C> G null Q E 478 478 missense 0.023 benign 0.58 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815456 19q13.2 19 41718338C> G null A G 483 483 missense 0.632 possibly damaging 0.41 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs373389663 19q13.2 19 41718340A> G null S G 484 484 0.003594 missense 0.325 benign 0.35 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs979767715 19q13.2 19 41718344G> A null G D 485 485 missense 0.998 probably damaging 0.47 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1600467588 19q13.2 19 41718347A> G null H R 486 486 missense 0.005 benign 0.55 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815466 19q13.2 19 41718352A> G null R G 488 488 missense 0.962 probably damaging 0.25 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782380671 19q13.2 19 41718355A> C null T P 489 489 missense 0.827 possibly damaging 0.28 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs781968228 19q13.2 19 41718358A> G null T A 490 490 missense 0.003 benign 0.35 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs200943930 19q13.2 19 41718365A> G null K R 492 492 missense 0.448 possibly damaging 0.58 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815480 19q13.2 19 41718377T> C null V A 496 496 missense 0.954 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815478 19q13.2 19 41718376G> C null V L 496 496 missense 0.927 probably damaging 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782676085 19q13.2 19 41719930C> T null A V 498 498 missense 0.851 possibly damaging 0.1 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1261248063 19q13.2 19 41719938C> G null P A 501 501 missense 0.991 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1600470144 19q13.2 19 41719939C> T null P L 501 501 missense 0.996 probably damaging 0.05 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1568708513 19q13.2 19 41719945C> T null P L 503 503 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1568708513 19q13.2 19 41719945C> G null P R 503 503 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815794 19q13.2 19 41719951T> C null I T 505 505 missense 0.964 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC rs782383551 19q13.2 19 41719950A> G null I V 505 505 missense 0.811 possibly damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC rs782639484 19q13.2 19 41719953T> G null S A 506 506 missense 0.05 benign 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782222362 19q13.2 19 41719956A> T null S C 507 507 missense 0.994 probably damaging 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782328991 19q13.2 19 41719957G> T null S I 507 507 missense 0.988 probably damaging 0.09 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782328991 19q13.2 19 41719957G> C null S T 507 507 missense 0.961 probably damaging 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs149101572 19q13.2 19 41719960A> G null N S 508 508 0.0002 missense 0.006 benign 0.15 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782297920 19q13.2 19 41719963A> T null N I 509 509 missense 0.994 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs888611670 19q13.2 19 41719970A> C null K N 511 511 missense 0.0 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1490598601 19q13.2 19 41719971C> T null P S 512 512 missense 0.991 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs138295038 19q13.2 19 41719974G> C null V L 513 513 missense 0.036 benign 0.1 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs138295038 cosmic curated [Cosmic]: endometrium cosmic_study:419 19q13.2 19 41719974G> A null V M 513 513 missense 0.446 possibly damaging 0.22 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs201069007 19q13.2 19 41719985G> T null K N 516 516 0.0002 missense 0.503 possibly damaging 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815816 19q13.2 19 41719988T> G null D E 517 517 missense 0.98 probably damaging 0.14 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149636403 19q13.2 19 41719987A> T null D V 517 517 0.0002 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC rs782698894 19q13.2 19 41719992G> A null V M 519 519 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781898276 19q13.2 19 41719996C> A null A D 520 520 missense 0.487 possibly damaging 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781851553 19q13.2 19 41720002C> T null T I 522 522 missense 0.899 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782778786 19q13.2 19 41720001A> C null T P 522 522 missense 0.899 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1277130898 19q13.2 19 41720008A> G null E G 524 524 missense 0.979 probably damaging 0.05 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782495250 19q13.2 19 41720007G> C null E Q 524 524 missense 0.979 probably damaging 0.05 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815828 19q13.2 19 41720011C> T null P L 525 525 missense 0.994 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC rs782578740 19q13.2 19 41720010C> T null P S 525 525 missense 0.991 probably damaging 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815831 19q13.2 19 41720016G> A null A T 527 527 missense 0.037 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1405197095 19q13.2 19 41720017C> T null A V 527 527 missense 0.0 benign 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782181374 19q13.2 19 41720022A> G null N D 529 529 missense 0.0 benign 0.79 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782545749 19q13.2 19 41720024C> G null N K 529 529 missense 0.082 benign 0.22 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815835 19q13.2 19 41720028A> G null T A 531 531 missense 0.969 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1351339974 19q13.2 19 41720029C> A null T N 531 531 missense 0.985 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs550694828 cosmic curated [Cosmic]: skin pubmed:21984974,cosmic_study:357 19q13.2 19 41720038G> A null W * 534 534 0.0002 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1321339324 19q13.2 19 41720039G> C null W C 534 534 missense 0.993 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs562531881 19q13.2 19 41720042G> A null W * 535 535 0.000998 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1404598532 19q13.2 19 41720040T> C null W R 535 535 missense 0.991 probably damaging 0.93 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781970198 19q13.2 19 41720043G> A null V I 536 536 missense 0.927 probably damaging 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815844 19q13.2 19 41720046A> G null N D 537 537 missense 0.969 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782320520 19q13.2 19 41720049G> T null G C 538 538 missense 0.873 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs533199278 19q13.2 19 41720050G> A null G D 538 538 0.0002 missense 0.342 benign 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782320520 19q13.2 19 41720049G> A null G S 538 538 missense 0.271 benign 0.46 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815850 19q13.2 19 41720059T> C null L P 541 541 missense 0.757 possibly damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1478476269 19q13.2 19 41720068G> A null S N 544 544 missense 0.961 probably damaging 0.1 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1219795676 19q13.2 19 41720075G> C null R S 546 546 missense 0.974 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1248734203 19q13.2 19 41720074G> C null R T 546 546 missense 0.974 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782003033 19q13.2 19 41720081G> T null Q H 548 548 missense 0.444 benign 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815855 19q13.2 19 41720083T> C null L P 549 549 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs201362268 19q13.2 19 41720088A> G null N D 551 551 missense 0.496 possibly damaging 0.62 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781818940 19q13.2 19 41720089A> G null N S 551 551 missense 0.068 benign 0.73 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs958579590 19q13.2 19 41720095A> G null N S 553 553 missense 0.979 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs991356609 19q13.2 19 41720098G> A null R K 554 554 missense 0.268 benign 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815871 19q13.2 19 41720109C> G null L V 558 558 missense 0.805 possibly damaging 0.13 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs552514245 19q13.2 19 41720116A> G null N S 560 560 missense 0.007 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782530350 19q13.2 19 41720119T> A null V D 561 561 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138799075 19q13.2 19 41720133G> C null A P 566 566 0.0002 missense 0.619 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138799075 cosmic curated [Cosmic]: central_nervous_system cosmic_study:329 19q13.2 19 41720133G> A null A T 566 566 0.0002 missense 0.003 benign 1.0 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815881 19q13.2 19 41720134C> T null A V 566 566 missense 0.03 benign 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs375804916 19q13.2 19 41720144T> G null Y * 569 569 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815886 19q13.2 19 41720146T> C null V A 570 570 missense 0.005 benign 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815887 19q13.2 19 41720152G> A null G E 572 572 missense 0.006 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs924326217 19q13.2 19 41720162C> G null N K 575 575 missense 0.99 probably damaging 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1336148911 19q13.2 19 41720161A> C null N T 575 575 missense 0.805 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815895 19q13.2 19 41720172G> A null A T 579 579 missense 0.613 possibly damaging 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1333217164 19q13.2 19 41720173C> T null A V 579 579 missense 0.358 benign 0.29 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141974793 19q13.2 19 41720178C> T null R C 581 581 0.000399 missense 0.042 benign 0.1 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141974793 19q13.2 19 41720178C> G null R G 581 581 0.000399 missense 0.459 possibly damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs146319665 cosmic curated [Cosmic]: large_intestine cosmic_study:375 19q13.2 19 41720179G> A null R H 581 581 missense 0.01 benign 0.33 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815902 19q13.2 19 41720191T> C null V A 585 585 missense 0.989 probably damaging 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782374981 19q13.2 19 41720190G> A null V I 585 585 missense 0.859 possibly damaging 0.13 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs868915781 19q13.2 19 41720194C> T null T I 586 586 missense 0.087 benign 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815906 19q13.2 19 41720197T> A null L Q 587 587 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61735249 19q13.2 19 41720199G> A null D N 588 588 0.00619 missense 0.001 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1401476611 19q13.2 19 41720925G> A null G E 592 592 missense 0.96 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1278360655 19q13.2 19 41720924G> A null G R 592 592 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1401476611 19q13.2 19 41720925G> T null G V 592 592 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782226981 19q13.2 19 41720928C> T null P L 593 593 missense 1.0 probably damaging 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1568709454 19q13.2 19 41720927C> T null P S 593 593 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555816074 19q13.2 19 41720934C> A null T N 595 595 missense 0.314 benign 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782583270 19q13.2 19 41720936C> G null P A 596 596 missense 0.99 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs75582708 19q13.2 19 41720944T> G null I M 598 598 0.007388 missense 0.997 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782299888 19q13.2 19 41720943T> C null I T 598 598 missense 0.995 probably damaging 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1600471889 19q13.2 19 41720945T> C null S P 599 599 missense 0.995 probably damaging 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555816089 19q13.2 19 41720949C> T null P L 600 600 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs373325856 19q13.2 19 41720951C> G null P A 601 601 missense 0.104 benign 0.5 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs556201612 19q13.2 19 41720952C> T null P L 601 601 0.0002 missense 0.044 benign 0.16 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs556201612 19q13.2 19 41720952C> A null P Q 601 601 0.0002 missense 0.685 possibly damaging 0.1 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs556201612 19q13.2 19 41720952C> G null P R 601 601 0.0002 missense 0.614 possibly damaging 0.05 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs373325856 19q13.2 19 41720951C> A null P T 601 601 missense 0.242 benign 0.17 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1192896058 19q13.2 19 41720955A> T null D V 602 602 missense 0.231 benign 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs371859092 19q13.2 19 41720957T> G null S A 603 603 missense 0.003 benign 0.27 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781903049 cosmic curated [Cosmic]: large_intestine cosmic_study:376 19q13.2 19 41720958C> T null S L 603 603 missense 0.031 benign 0.21 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs371859092 19q13.2 19 41720957T> C null S P 603 603 missense 0.466 possibly damaging 0.1 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555816107 19q13.2 19 41720961C> T null S F 604 604 missense 0.328 benign 0.3 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1600471985 19q13.2 19 41720964A> C null Y S 605 605 missense 1.0 probably damaging 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555816110 19q13.2 19 41720966C> A null L I 606 606 missense 0.26 benign 0.37 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781854363 19q13.2 19 41720967T> C null L P 606 606 missense 0.031 benign 0.29 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782478629 cosmic curated [Cosmic]: skin, [Cosmic]: kidney pubmed:22622578,cosmic_study:388,cosmic_study:416 19q13.2 19 41720970C> T null S L 607 607 missense 0.031 benign 0.4 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs200399646 cosmic curated [Cosmic]: ovary cosmic_study:585 19q13.2 19 41720976C> T null A V 609 609 0.0002 missense 0.07 benign 0.11 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782670029 19q13.2 19 41720979A> C null N T 610 610 missense 1.0 probably damaging 0.15 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs75165133 19q13.2 19 41720985A> C null N T 612 612 missense 0.072 benign 0.31 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555816119 19q13.2 19 41720984A> T null N Y 612 612 missense 0.104 benign 0.37 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs545208884 19q13.2 19 41720988T> C null L P 613 613 0.06949 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782326336 19q13.2 19 41720991C> T null S F 614 614 missense 0.435 benign 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs201761909 19q13.2 19 41720990T> C null S P 614 614 0.06949 missense 0.996 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782290971 19q13.2 19 41720997A> C null H P 616 616 missense 0.934 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781924468 19q13.2 19 41720996C> T null H Y 616 616 missense 0.195 benign 0.25 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782401497 cosmic curated [Cosmic]: central_nervous_system pubmed:23592488,cosmic_study:472 19q13.2 19 41721000C> T null S L 617 617 missense 0.085 benign 0.02 deleterious 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555816140 19q13.2 19 41721003C> T null A V 618 618 missense 0.941 probably damaging 0.5 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1436868362 19q13.2 19 41721011C> G null P A 621 621 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555816144 19q13.2 19 41721015C> T null S F 622 622 missense 0.552 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782110730 19q13.2 19 41721018C> T null P L 623 623 missense 0.184 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1321427697 19q13.2 19 41721020C> T null Q * 624 624 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782063496 19q13.2 19 41721022G> C null Q H 624 624 missense 0.75 possibly damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781890364 19q13.2 19 41721023T> C null Y H 625 625 missense 1.0 probably damaging 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs74946020 19q13.2 19 41721030G> A null W * 627 627 0.0002 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs201571774 19q13.2 19 41721032C> T null R C 628 628 missense 0.745 possibly damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs147855837 19q13.2 19 41721033G> A null R H 628 628 missense 0.567 possibly damaging 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1171440835 19q13.2 19 41721039A> G null N S 630 630 missense 0.412 benign 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1171440835 19q13.2 19 41721039A> C null N T 630 630 missense 0.895 possibly damaging 0.05 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1467294934 19q13.2 19 41721042G> A null G E 631 631 missense 0.957 probably damaging 0.17 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782601271 19q13.2 19 41721044A> T null I L 632 632 missense 0.031 benign 0.05 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC rs782182729 19q13.2 19 41721047C> G null P A 633 633 missense 0.051 benign 0.51 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782558080 cosmic curated [Cosmic]: ovary pubmed:22102435,cosmic_study:397 19q13.2 19 41721048C> T null P L 633 633 missense 0.003 benign 0.67 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,TOPMed rs141086263 19q13.2 19 41721053C> G null Q E 635 635 missense 0.831 possibly damaging 0.24 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782260134 19q13.2 19 41721059A> G null T A 637 637 missense 0.358 benign 0.15 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555816160 19q13.2 19 41721074A> G null I V 642 642 missense 0.951 probably damaging 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782212015 19q13.2 19 41721077G> A null A T 643 643 missense 0.342 benign 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1040798227 19q13.2 19 41721084T> C null I T 645 645 missense 0.959 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs550022667 19q13.2 19 41721087C> T null T M 646 646 0.0002 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555816164 19q13.2 19 41721090C> G null P R 647 647 missense 0.156 benign 0.39 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs565105444 19q13.2 19 41721100C> G null N K 650 650 0.0002 missense 0.373 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs998112305 19q13.2 19 41721101G> A null G R 651 651 missense 0.993 probably damaging 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs889619169 19q13.2 19 41721104A> T null T S 652 652 missense 0.001 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782793773 19q13.2 19 41721108A> G null Y C 653 653 missense 1.0 probably damaging 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1439950686 19q13.2 19 41721111C> G null A G 654 654 missense 0.024 benign 0.05 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555816170 19q13.2 19 41721110G> A null A T 654 654 missense 0.02 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782735814 19q13.2 19 41721123C> G null S C 658 658 missense 0.732 possibly damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555816179 19q13.2 19 41721135C> A null T N 662 662 missense 0.993 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10423171 19q13.2 19 41721140C> T null R C 664 664 0.04872 missense 0.029 benign 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782505424 19q13.2 19 41721141G> A null R H 664 664 missense 0.01 benign 0.34 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs10423171 19q13.2 19 41721140C> A null R S 664 664 0.04872 missense 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781837493 19q13.2 19 41721147A> T null N I 666 666 missense 0.427 benign 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781837493 19q13.2 19 41721147A> G null N S 666 666 missense 0.007 benign 0.21 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782174541 19q13.2 19 41721154A> G null I M 668 668 missense 0.75 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138328698 19q13.2 19 41721153T> C null I T 668 668 0.000399 missense 0.001 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1427607489 19q13.2 19 41721160G> C null K N 670 670 missense 0.405 benign 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1172128197 19q13.2 19 41721162G> A null S N 671 671 missense 0.007 benign 0.81 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782432182 19q13.2 19 41721163C> G null S R 671 671 missense 0.156 benign 0.43 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782643301 19q13.2 19 41721174C> T null S F 675 675 missense 0.479 possibly damaging 0.71 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs868942347 19q13.2 19 41721176G> A null A T 676 676 missense 0.131 benign 0.33 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs9621 19q13.2 19 41727239G> A null G R 678 678 0.008586 missense 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781873106 19q13.2 19 41727248C> T null P S 681 681 missense 0.122 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1441607923 19q13.2 19 41727252G> A null G D 682 682 missense 0.015 benign 0.18 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1441607923 19q13.2 19 41727252G> T null G V 682 682 missense 0.001 benign 0.51 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs961497729 19q13.2 19 41727260G> A null A T 685 685 missense 0.237 benign 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782629273 19q13.2 19 41727267C> A null A D 687 687 missense 0.352 benign 0.19 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782629273 19q13.2 19 41727267C> G null A G 687 687 missense 0.352 benign 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782497345 19q13.2 19 41727266G> A null A T 687 687 missense 0.021 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1600480616 19q13.2 19 41727269A> C null T P 688 688 missense 0.877 possibly damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs201356826 19q13.2 19 41727273T> A null V D 689 689 missense 0.07 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368131026 19q13.2 19 41727275G> A null G S 690 690 0.0002 missense 0.065 benign 0.54 tolerated - low confidence 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs782506776 19q13.2 19 41727279T> C null I T 691 691 missense 0.693 possibly damaging 0.03 deleterious - low confidence 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782575375 19q13.2 19 41727281A> G null M V 692 692 missense 0.007 benign 0.94 tolerated - low confidence 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs868972759 19q13.2 19 41727284A> C null I L 693 693 missense 0.07 benign 0.14 tolerated - low confidence 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782305548 19q13.2 19 41727285T> C null I T 693 693 missense 0.054 benign 0.07 tolerated - low confidence 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782412306 cosmic curated [Cosmic]: urinary_tract pubmed:22923433,cosmic_study:490 19q13.2 19 41727287G> A null G R 694 694 missense 0.962 probably damaging 0.13 tolerated - low confidence 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1600480682 19q13.2 19 41727290G> A null V M 695 695 missense 0.242 benign 0.09 tolerated - low confidence 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782107321 19q13.2 19 41727296G> T null V F 697 697 missense 0.123 benign 0.06 tolerated - low confidence 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782107321 19q13.2 19 41727296G> A null V I 697 697 missense 0.037 benign 0.62 tolerated - low confidence 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs202005812 19q13.2 19 41727302G> T null V F 699 699 missense 0.969 probably damaging 0.01 deleterious - low confidence 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs202005812 19q13.2 19 41727302G> A null V I 699 699 missense 0.178 benign 0.07 tolerated - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs531145748 17q12 17 37411372C> T null R C 3 3 0.0002 missense 0.011 benign 0.0 deleterious - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs374991405 17q12 17 37411373G> A null R H 3 3 missense 0.011 benign 0.1 tolerated - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs374991405 17q12 17 37411373G> T null R L 3 3 missense 0.214 benign 0.01 deleterious - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs757277731 17q12 17 37411379G> T null G V 5 5 missense 0.003 benign 0.35 tolerated - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs7211875 17q12 17 37411381T> C null S P 6 6 missense 0.007 benign 0.28 tolerated - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs7211875 17q12 17 37411381T> A null S T 6 6 missense 0.266 benign 0.28 tolerated - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1426998075 17q12 17 37411386T> G null F L 7 7 missense 0.034 benign 0.1 tolerated - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1386674507 17q12 17 37411388G> A null S N 8 8 missense 0.001 benign 0.5 tolerated - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs777684288 17q12 17 37423510T> A null N K 9 9 missense 0.169 benign 0.13 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1268855242 17q12 17 37423509A> G null N S 9 9 missense 0.003 benign 0.64 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1568137334 17q12 17 37423511G> A null D N 10 10 missense 0.614 possibly damaging 0.1 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs746853187 17q12 17 37423515C> G null P R 11 11 missense 0.915 probably damaging 0.13 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1340691801 17q12 17 37423518C> T null S F 12 12 missense 0.0 benign 0.14 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs769361999 17q12 17 37423523A> G null K E 14 14 missense 0.328 benign 0.16 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1165196770 17q12 17 37423524A> C null K T 14 14 missense 0.804 possibly damaging 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1450036651 17q12 17 37423527C> T null P L 15 15 missense 0.108 benign 0.09 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1391218354 17q12 17 37423529C> T null P S 16 16 missense 0.17 benign 0.25 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs143836210 17q12 17 37423535C> T null R * 18 18 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs143836210 17q12 17 37423535C> G null R G 18 18 missense 0.222 benign 0.1 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs200118946 17q12 17 37423536G> A null R Q 18 18 0.000399 missense 0.066 benign 0.31 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs767717382 17q12 17 37423545C> G null S C 21 21 missense 0.973 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1164751689 17q12 17 37423548C> T null S F 22 22 missense 0.144 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1405764961 17q12 17 37423547T> A null S T 22 22 missense 0.031 benign 0.61 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs760610332 17q12 17 37423551A> G null Y C 23 23 missense 0.936 probably damaging 0.12 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1356095701 17q12 17 37423557T> A null M K 25 25 missense 0.003 benign 0.27 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs561407972 17q12 17 37423556A> T null M L 25 25 0.0002 missense 0.003 benign 0.32 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs561407972 17q12 17 37423556A> G null M V 25 25 0.0002 missense 0.0 benign 1.0 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1208495585 17q12 17 37423563C> T null P L 27 27 missense 0.614 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1208495585 17q12 17 37423563C> G null P R 27 27 missense 0.708 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1264808996 17q12 17 37423566A> T null Y F 28 28 missense 0.132 benign 0.17 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1181906545 17q12 17 37423568A> G null I V 29 29 missense 0.139 benign 0.26 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs751397194 17q12 17 37423587G> A null G E 35 35 missense 0.138 benign 0.19 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs757122720 17q12 17 37423590C> T null P L 36 36 missense 0.897 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs980691501 17q12 17 37423602T> G null F C 40 40 missense 0.0 benign 0.17 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs980691501 17q12 17 37423602T> C null F S 40 40 missense 0.0 benign 0.42 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs777071633 17q12 17 37423613C> T null Q * 44 44 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs777071633 17q12 17 37423613C> A null Q K 44 44 missense 0.033 benign 0.09 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs909164484 17q12 17 37426954T> G null F C 46 46 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs941854665 17q12 17 37426955C> A null F L 46 46 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs759757775 17q12 17 37426959C> T null R * 48 48 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs759757775 17q12 17 37426959C> G null R G 48 48 missense 0.023 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs751557109 17q12 17 37426960G> A null R Q 48 48 missense 0.04 benign 0.08 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1474977822 17q12 17 37426968G> A null E K 51 51 missense 0.99 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1394834928 17q12 17 37426974A> G null K E 53 53 missense 0.022 benign 0.81 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs755769498 17q12 17 37426987G> A null S N 57 57 missense 0.005 benign 0.8 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs750222887 17q12 17 37426986A> C null S R 57 57 missense 0.142 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1202611869 17q12 17 37426991T> A null D E 58 58 missense 0.115 benign 0.1 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs748823884 17q12 17 37426989G> A null D N 58 58 missense 0.009 benign 0.79 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs748823884 17q12 17 37426989G> T null D Y 58 58 missense 0.885 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs374099682 17q12 17 37426993A> G null H R 59 59 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs748673452 17q12 17 37426995A> G null T A 60 60 missense 0.001 benign 0.79 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1568141759 17q12 17 37426996C> G null T S 60 60 missense 0.001 benign 0.93 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1198672460 17q12 17 37427009G> A null M I 64 64 missense 0.003 benign 0.83 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1568152478 17q12 17 37437738A> G null T A 65 65 missense 0.561 possibly damaging 0.13 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs755925823 17q12 17 37437742C> T null S L 66 66 missense 0.001 benign 0.22 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1419671531 17q12 17 37437745A> G null D G 67 67 missense 0.036 benign 0.09 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed rs141037954 17q12 17 37437744G> C null D H 67 67 0.0002 missense 0.295 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed rs141037954 17q12 17 37437744G> A null D N 67 67 0.0002 missense 0.022 benign 0.18 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs147950347 17q12 17 37437763C> T null P L 73 73 missense 0.06 benign 0.37 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs753498929 17q12 17 37437765A> C null S R 74 74 missense 0.012 benign 0.41 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1189869589 17q12 17 37437769G> A null W * 75 75 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs754433137 17q12 17 37437768T> C null W R 75 75 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1438098357 17q12 17 37437771A> G null T A 76 76 missense 0.358 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1568152576 17q12 17 37437772C> T null T I 76 76 missense 0.747 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs369092308 17q12 17 37437787T> G null M R 81 81 missense 0.526 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs929963414 17q12 17 37437786A> G null M V 81 81 missense 0.031 benign 0.4 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs758897797 17q12 17 37437789G> A null A T 82 82 missense 0.005 benign 0.41 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1466606998 17q12 17 37437798G> A null E K 85 85 missense 0.749 possibly damaging 0.19 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs545436243 17q12 17 37437811A> G null D G 89 89 0.0002 missense 0.43 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs771214399 17q12 17 37437813T> C null C R 90 90 missense 0.43 benign 0.12 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs888361627 17q12 17 37437829G> A null W * 95 95 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1376649458 17q12 17 37440513T> C null V A 98 98 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs770126092 17q12 17 37440512G> C null V L 98 98 missense 0.918 probably damaging 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs780489911 17q12 17 37440516C> G null A G 99 99 missense 0.845 possibly damaging 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs148703392 17q12 17 37440519A> G null N S 100 100 0.0002 missense 0.003 benign 0.61 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1464644057 17q12 17 37440522A> G null Q R 101 101 missense 0.025 benign 0.18 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs773149366 17q12 17 37440526G> T null M I 102 102 missense 0.011 benign 0.08 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs760559082 17q12 17 37440530A> G null T A 104 104 missense 0.382 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs760559082 17q12 17 37440530A> T null T S 104 104 missense 0.3 benign 0.21 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1279076701 17q12 17 37440539A> G null K E 107 107 missense 0.614 possibly damaging 0.18 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs962355419 17q12 17 37440540A> G null K R 107 107 missense 0.346 benign 0.18 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs147234139 17q12 17 37440543A> T null E V 108 108 missense 0.079 benign 0.28 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1054865 17q12 17 37440563A> G null M V 115 115 missense 0.176 benign 0.27 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1236030137 17q12 17 37440567A> G null K R 116 116 missense 0.049 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs17849432 17q12 17 37440569C> T null H Y 117 117 missense 0.001 benign 1.0 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1194930466 17q12 17 37440578A> G null N D 120 120 missense 0.007 benign 0.31 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs762476985 17q12 17 37440579A> G null N S 120 120 missense 0.015 benign 0.39 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1194930466 17q12 17 37440578A> T null N Y 120 120 missense 0.015 benign 0.85 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs763545857 17q12 17 37440581A> C null N H 121 121 missense 0.078 benign 0.08 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs757681201 17q12 17 37440584C> T null P S 122 122 missense 0.511 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs750812372 17q12 17 37440587C> G null L V 123 123 missense 0.015 benign 0.24 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1298635693 17q12 17 37440599A> G null T A 127 127 missense 0.015 benign 0.22 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs756551066 17q12 17 37440606T> C null L P 129 129 missense 0.234 benign 0.09 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs756551066 17q12 17 37440606T> A null L Q 129 129 missense 0.642 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs749490492 17q12 17 37440614A> C null K Q 132 132 missense 0.091 benign 0.3 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1263454482 17q12 17 37440615A> G null K R 132 132 missense 0.003 benign 0.61 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs768738677 17q12 17 37440623G> A null E K 135 135 missense 0.091 benign 0.25 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1218781306 17q12 17 37440626G> A null E K 136 136 missense 0.027 benign 0.06 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs748319407 17q12 17 37440638G> T null A S 140 140 missense 0.0 benign 0.4 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs748319407 17q12 17 37440638G> A null A T 140 140 missense 0.001 benign 0.4 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs78395792 17q12 17 37440644A> C null T P 142 142 missense 0.014 benign 0.24 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs776558332 17q12 17 37440647G> A null A T 143 143 missense 0.038 benign 0.07 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34408045 17q12 17 37440653C> T null P S 145 145 0.001997 missense 0.026 benign 0.18 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1478063083 17q12 17 37440660A> G null H R 147 147 missense 0.0 benign 0.46 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs779265621 17q12 17 37442566A> G null T A 149 149 missense 0.0 benign 0.31 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs972398099 17q12 17 37442567C> T null T I 149 149 missense 0.015 benign 0.07 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1403132471 17q12 17 37442570A> T null D V 150 150 missense 0.023 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1568158593 17q12 17 37442576C> G null P R 152 152 missense 0.971 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs781059297 17q12 17 37442581C> T null R * 154 154 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs985453152 17q12 17 37442582G> A null R Q 154 154 missense 0.355 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1388247289 17q12 17 37442585C> G null P R 155 155 missense 0.876 possibly damaging 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs775126931 17q12 17 37442596T> G null S A 159 159 missense 0.395 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs749164183 17q12 17 37442597C> G null S C 159 159 missense 0.987 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1247415777 17q12 17 37442602C> T null L F 161 161 missense 0.48 possibly damaging 0.05 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1247415777 17q12 17 37442602C> G null L V 161 161 missense 0.013 benign 0.49 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs774056248 17q12 17 37442609G> A null R Q 163 163 missense 0.01 benign 0.59 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs768187507 17q12 17 37442608C> T null R W 163 163 missense 0.663 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs767153736 17q12 17 37442612A> C null D A 164 164 missense 0.197 benign 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs767153736 17q12 17 37442612A> G null D G 164 164 missense 0.255 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs761169873 17q12 17 37442611G> T null D Y 164 164 missense 0.029 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1458705782 17q12 17 37442614A> C null M L 165 165 missense 0.023 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs767039292 17q12 17 37442620G> A null G R 167 167 missense 0.963 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1283050287 17q12 17 37442628G> T null M I 169 169 missense 0.167 benign 0.16 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs754152102 17q12 17 37442626A> G null M V 169 169 missense 0.059 benign 0.13 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1040429867 17q12 17 37442635C> T null R * 172 172 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs374860776 17q12 17 37442636G> A null R Q 172 172 missense 0.988 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs765322399 17q12 17 37442648T> C null I T 176 176 missense 0.003 benign 0.7 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs377490313 17q12 17 37442652G> C null E D 177 177 missense 0.014 benign 0.22 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs760331528 17q12 17 37444696G> A null E K 178 178 missense 0.691 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1038300227 17q12 17 37444703A> G null D G 180 180 missense 0.959 probably damaging 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs771278100 17q12 17 37444706A> G null N S 181 181 missense 0.954 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs375889975 17q12 17 37444708T> C null Y H 182 182 missense 0.136 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1413288465 17q12 17 37444711G> A null A T 183 183 missense 0.954 probably damaging 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs367698801 17q12 17 37444712C> T null A V 183 183 missense 0.527 possibly damaging 0.13 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1458840100 17q12 17 37444717T> C null W R 185 185 missense 0.53 possibly damaging 0.07 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs753043534 17q12 17 37444722C> G null D E 186 186 missense 0.316 benign 0.2 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1423139282 17q12 17 37444721A> T null D V 186 186 missense 0.439 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1200288414 17q12 17 37444720G> T null D Y 186 186 missense 0.616 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1477000755 17q12 17 37444725G> T null L F 187 187 missense 0.99 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1597899114 17q12 17 37444742T> C null V A 193 193 missense 0.001 benign 0.68 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs764359936 17q12 17 37444749T> G null D E 195 195 missense 0.076 benign 0.5 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs529523943 17q12 17 37444754C> T null S L 197 197 missense 0.179 benign 0.06 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs753835969 17q12 17 37444757A> G null D G 198 198 missense 0.34 benign 0.06 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs779797259 17q12 17 37444756G> T null D Y 198 198 missense 0.136 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,gnomAD rs142136696 17q12 17 37444766A> T null H L 201 201 missense 0.001 benign 0.11 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,gnomAD rs142136696 17q12 17 37444766A> G null H R 201 201 missense 0.0 benign 0.84 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs745430985 17q12 17 37458524C> T null A V 202 202 missense 0.255 benign 0.19 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1253060759 17q12 17 37458533T> C null M T 205 205 missense 0.009 benign 0.08 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs770332199 17q12 17 37458535G> A null A T 206 206 missense 0.202 benign 0.33 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs775978650 17q12 17 37458541G> A null V I 208 208 missense 0.23 benign 0.05 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1377608754 17q12 17 37458545A> G null D G 209 209 missense 0.209 benign 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs749593690 17q12 17 37458548T> A null I N 210 210 missense 0.917 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs749593690 17q12 17 37458548T> C null I T 210 210 missense 0.702 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1262636076 17q12 17 37458563T> C null L S 215 215 missense 0.971 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1487397604 17q12 17 37458570G> C null E D 217 217 missense 0.169 benign 0.1 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs960786246 17q12 17 37458574C> G null Q E 219 219 missense 0.003 benign 0.29 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs769028253 17q12 17 37458576A> C null Q H 219 219 missense 0.013 benign 0.54 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs960786246 17q12 17 37458574C> A null Q K 219 219 missense 0.005 benign 0.3 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,TOPMed,gnomAD rs367602386 17q12 17 37458581G> A null R Q 221 221 missense 0.92 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs755590586 17q12 17 37462081T> G null I M 224 224 missense 0.543 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150744923 17q12 17 37462082A> C null I L 225 225 0.000998 missense 0.015 benign 0.07 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs948827615 17q12 17 37462083T> C null I T 225 225 missense 0.154 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150744923 17q12 17 37462082A> G null I V 225 225 0.000998 missense 0.003 benign 0.31 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1333012318 17q12 17 37462090C> A null D E 227 227 missense 0.003 benign 0.26 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs928700220 17q12 17 37462088G> A null D N 227 227 missense 0.012 benign 0.22 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs928700220 17q12 17 37462088G> T null D Y 227 227 missense 0.689 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1045907641 17q12 17 37462092A> T null H L 228 228 missense 0.111 benign 0.2 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs749821727 17q12 17 37462091C> T null H Y 228 228 missense 0.017 benign 0.75 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs907253924 17q12 17 37462106C> A null L I 233 233 missense 0.07 benign 0.35 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs774675965 17q12 17 37462109A> T null R * 234 234 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs573981711 17q12 17 37462110G> C null R T 234 234 0.0002 missense 0.661 possibly damaging 0.08 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1163650883 17q12 17 37462114G> C null K N 235 235 missense 0.477 possibly damaging 0.2 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed rs371661972 17q12 17 37462121T> A null L I 238 238 missense 0.001 benign 0.52 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs184173195 17q12 17 37465434T> C null M T 239 239 0.0002 missense 0.003 benign 0.4 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs778017944 17q12 17 37465440G> A null R Q 241 241 missense 0.468 possibly damaging 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs972824162 17q12 17 37465439C> T null R W 241 241 missense 0.984 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs376421675 17q12 17 37465443G> A null R Q 242 242 missense 0.26 benign 0.17 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs747169374 17q12 17 37465442C> T null R W 242 242 missense 0.977 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1208030542 17q12 17 37465448C> T null P S 244 244 missense 0.006 benign 0.37 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1361482732 17q12 17 37465452A> G null K R 245 245 missense 0.003 benign 0.33 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs201607716 17q12 17 37465461A> G null Q R 248 248 0.0002 missense 0.0 benign 0.73 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs768651633 17q12 17 37465469T> C null Y H 251 251 missense 0.007 benign 0.36 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs774171350 17q12 17 37465478A> G null M V 254 254 missense 0.013 benign 0.11 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs761618764 17q12 17 37465484C> T null R * 256 256 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs985432564 17q12 17 37465489T> A null F L 257 257 missense 0.789 possibly damaging 0.14 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs750269130 17q12 17 37465503G> A null G E 262 262 missense 0.022 benign 0.18 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs911129443 17q12 17 37465515A> T null H L 266 266 missense 0.041 benign 0.45 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs911129443 17q12 17 37465515A> G null H R 266 266 missense 0.381 benign 0.24 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs965304287 17q12 17 37465519C> A null D E 267 267 missense 0.182 benign 0.17 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs753341302 17q12 17 37465517G> A null D N 267 267 missense 0.582 possibly damaging 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs754488351 17q12 17 37465520A> C null K Q 268 268 missense 0.149 benign 0.13 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs143994775 17q12 17 37465521A> G null K R 268 268 missense 0.013 benign 0.1 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1307892133 17q12 17 37465528T> G null I M 270 270 missense 0.059 benign 0.16 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs753176409 17q12 17 37465527T> C null I T 270 270 missense 0.033 benign 0.24 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs188630265 17q12 17 37465538G> A null A T 274 274 0.0002 missense 0.014 benign 0.71 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs773206191 17q12 17 37467468C> T null R * 280 280 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs746746027 17q12 17 37467469G> A null R Q 280 280 missense 0.291 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1300801420 17q12 17 37467481A> G null K R 284 284 missense 0.001 benign 0.32 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1300801420 17q12 17 37467481A> C null K T 284 284 missense 0.015 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs576475151 17q12 17 37467484G> A null R K 285 285 0.0002 missense 0.0 benign 1.0 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs759167526 17q12 17 37467489C> T null Q * 287 287 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1162578231 17q12 17 37467495T> G null Y D 289 289 missense 0.729 possibly damaging 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs541695385 17q12 17 37467501A> G null T A 291 291 0.0002 missense 0.0 benign 0.81 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1227603812 17q12 17 37467502C> T null T I 291 291 missense 0.007 benign 0.17 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs774862825 17q12 17 37467505C> T null A V 292 292 missense 0.06 benign 0.57 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs754005263 17q12 17 37467518T> G null N K 296 296 missense 0.0 benign 0.92 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1326466468 17q12 17 37470400G> A null S N 299 299 missense 0.014 benign 0.32 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs761105676 17q12 17 37470402G> A null A T 300 300 missense 0.087 benign 0.52 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs377297752 17q12 17 37470406G> A null R K 301 301 missense 0.0 benign 0.73 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs528499631 17q12 17 37470414G> A null D N 304 304 0.0002 missense 0.001 benign 0.54 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs778943011 17q12 17 37470417C> T null H Y 305 305 missense 0.056 benign 0.61 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1568184956 17q12 17 37470420C> G null L V 306 306 missense 0.82 possibly damaging 0.13 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1214439404 17q12 17 37470425G> C null K N 307 307 missense 0.611 possibly damaging 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1252892619 17q12 17 37470430C> T null T I 309 309 missense 0.009 benign 0.3 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs200169209 17q12 17 37470433G> A null R Q 310 310 0.0002 missense 0.928 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs752832027 17q12 17 37470432C> T null R W 310 310 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs781116439 17q12 17 37470439A> G null E G 312 312 missense 0.012 benign 0.06 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs565416493 17q12 17 37470444C> T null R C 314 314 0.0002 missense 0.655 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs146413054 17q12 17 37470445G> A null R H 314 314 missense 0.007 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142392695 17q12 17 37470450A> C null K Q 316 316 0.003195 missense 0.137 benign 0.24 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1022179164 17q12 17 37470453C> T null R C 317 317 missense 0.212 benign 0.06 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1036733761 17q12 17 37470454G> A null R H 317 317 missense 0.197 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1036733761 17q12 17 37470454G> T null R L 317 317 missense 0.15 benign 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed rs768470304 17q12 17 37470460T> C null M T 319 319 missense 0.037 benign 0.17 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs766832434 17q12 17 37470459A> G null M V 319 319 missense 0.012 benign 0.3 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs773980698 17q12 17 37470462C> T null L F 320 320 missense 0.139 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs761471503 17q12 17 37470463T> C null L P 320 320 missense 0.188 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1305091524 17q12 17 37470466C> T null S L 321 321 missense 0.079 benign 0.05 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1337284206 17q12 17 37470474C> A null L I 324 324 missense 0.273 benign 0.11 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs773868308 17q12 17 37470492A> T null S C 330 330 missense 0.753 possibly damaging 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs773868308 17q12 17 37470492A> G null S G 330 330 missense 0.005 benign 0.28 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1360759028 17q12 17 37470495A> G null S G 331 331 missense 0.0 benign 0.14 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs760897387 17q12 17 37470496G> C null S T 331 331 missense 0.009 benign 0.36 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1480507342 17q12 17 37470502G> T null C F 333 333 missense 0.033 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1175900996 17q12 17 37470505A> T null Q L 334 334 missense 0.012 benign 0.24 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs765510378 17q12 17 37470516C> T null R C 338 338 missense 0.371 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs752708938 17q12 17 37470517G> A null R H 338 338 missense 0.0 benign 0.27 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs765510378 17q12 17 37470516C> A null R S 338 338 missense 0.0 benign 0.39 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149845906 17q12 17 37470520G> A null R Q 339 339 0.000599 missense 0.355 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs750408176 17q12 17 37470519C> T null R W 339 339 missense 0.963 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1461272546 17q12 17 37470526C> T null A V 341 341 missense 0.087 benign 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1459775149 17q12 17 37470531A> C null I L 343 343 missense 0.0 benign 0.89 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1312493627 17q12 17 37471095G> A null D N 344 344 missense 0.316 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs777051321 17q12 17 37471101G> A null G S 346 346 missense 0.056 benign 0.15 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1173344516 17q12 17 37471108G> A null S N 348 348 missense 0.001 benign 0.49 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1361791575 17q12 17 37471110C> T null P S 349 349 missense 0.015 benign 0.36 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs755385269 17q12 17 37471113T> A null S T 350 350 missense 0.0 benign 0.75 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2522969 17q12 17 37471118T> G null I M 351 351 0.004992 missense 0.009 benign 0.12 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs765389140 17q12 17 37471116A> G null I V 351 351 missense 0.0 benign 0.52 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs762982052 17q12 17 37471122A> G null M V 353 353 missense 0.0 benign 1.0 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117373044 17q12 17 37471129C> T null S L 355 355 0.0002 missense 0.009 benign 0.15 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1193641091 17q12 17 37471131A> T null N Y 356 356 missense 0.106 benign 0.1 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs375609348 17q12 17 37471135C> G null S * 357 357 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,TOPMed,gnomAD rs369901141 17q12 17 37474562G> A null R Q 360 360 missense 0.491 possibly damaging 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs563439261 17q12 17 37474561C> T null R W 360 360 0.0002 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs766279125 17q12 17 37474568C> T null A V 362 362 missense 0.82 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs766089640 17q12 17 37474570C> G null P A 363 363 missense 0.058 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs573640576 17q12 17 37474574C> A null P H 364 364 0.0002 missense 0.983 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs573640576 17q12 17 37474574C> T null P L 364 364 0.0002 missense 0.997 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs573640576 17q12 17 37474574C> G null P R 364 364 0.0002 missense 0.919 probably damaging 0.09 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1167215604 17q12 17 37474591C> T null L F 370 370 missense 0.464 possibly damaging 0.15 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs746471520 17q12 17 37474613A> G null N S 377 377 missense 0.024 benign 0.28 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1337888572 17q12 17 37474616A> T null E V 378 378 missense 0.138 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1597953331 17q12 17 37474628A> G null E G 382 382 missense 0.287 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1184472657 17q12 17 37474627G> A null E K 382 382 missense 0.328 benign 0.09 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1272025990 17q12 17 37476806A> T null M L 386 386 missense 0.003 benign 0.8 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1185571871 17q12 17 37476827G> C null A P 393 393 missense 0.019 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs780549502 17q12 17 37476843A> G null K R 398 398 missense 0.307 benign 0.15 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs780549502 17q12 17 37476843A> C null K T 398 398 missense 0.609 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1319632429 17q12 17 37476857A> C null N H 403 403 missense 0.029 benign 0.21 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1036614439 17q12 17 37476860G> T null E * 404 404 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1036614439 17q12 17 37476860G> C null E Q 404 404 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs749593818 17q12 17 37476865T> G null C W 405 405 missense 0.165 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,gnomAD rs373768236 17q12 17 37476876G> A null G E 409 409 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs186687337 17q12 17 37476885G> A null R K 412 412 0.000599 missense 0.071 benign 0.23 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs748285471 17q12 17 37476891C> T null A V 414 414 missense 0.95 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1296855173 17q12 17 37476893C> T null Q * 415 415 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1236270887 17q12 17 37476902G> A null A T 418 418 missense 0.005 benign 1.0 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1346716855 17q12 17 37476908A> C null I L 420 420 missense 0.104 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs760842735 17q12 17 37476914A> T null I L 422 422 missense 0.774 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs769797807 17q12 17 37476915T> C null I T 422 422 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1473275859 17q12 17 37476917G> C null D H 423 423 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs775593551 17q12 17 37476925C> G null N K 425 425 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1346370052 17q12 17 37476929A> G null T A 427 427 missense 0.898 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs774041584 17q12 17 37476933G> A null R Q 428 428 missense 0.987 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1263964153 17q12 17 37476932C> T null R W 428 428 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1434763804 17q12 17 37476938A> G null I V 430 430 missense 0.386 benign 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1447715107 17q12 17 37476953A> G null I V 435 435 missense 0.017 benign 0.36 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs376913298 17q12 17 37476968A> G null I V 440 440 missense 0.873 possibly damaging 0.2 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs767220490 17q12 17 37476977G> C null G R 443 443 missense 0.718 possibly damaging 0.0 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1264375388 9q31.3 9 111631412G> A null G E 2 2 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs999791922 9q31.3 9 111631414G> T null A S 3 3 missense 0.037 benign 0.02 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,TOPMed,gnomAD rs530603296 9q31.3 9 111631415C> T null A V 3 3 0.000399 missense 0.001 benign 0.15 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,TOPMed,gnomAD rs544358015 9q31.3 9 111631418C> T null P L 4 4 0.0002 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,TOPMed,gnomAD rs544358015 9q31.3 9 111631418C> A null P Q 4 4 0.0002 missense 0.015 benign 0.02 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1275801541 9q31.3 9 111631417C> T null P S 4 4 missense 0.009 benign 0.02 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs886470284 9q31.3 9 111631421T> C null L P 5 5 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1284295122 9q31.3 9 111631423C> T null L F 6 6 missense 0.063 benign 0.19 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs774301664 9q31.3 9 111631427C> T null S F 7 7 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs960701170 9q31.3 9 111631430C> G null P R 8 8 missense 0.0 benign 0.26 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs906125776 9q31.3 9 111631442C> G null A G 12 12 missense 0.0 benign 0.25 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,ExAC rs561187112 9q31.3 9 111631441G> A null A T 12 12 0.000399 missense 0.0 benign 0.38 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs906125776 9q31.3 9 111631442C> T null A V 12 12 missense 0.0 benign 0.16 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1429786258 9q31.3 9 111631445G> A null G E 13 13 missense 0.161 benign 0.17 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1023718695 9q31.3 9 111631448C> T null A V 14 14 missense 0.003 benign 0.44 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1035861157 9q31.3 9 111631453G> A null G S 16 16 missense 0.003 benign 0.04 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs959766272 9q31.3 9 111631465T> C null W R 20 20 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1481364068 9q31.3 9 111631468A> G null M V 21 21 missense 0.0 benign 0.66 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs952193701 9q31.3 9 111631472T> G null L R 22 22 missense 0.452 possibly damaging 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1197351031 9q31.3 9 111631477G> C null A P 24 24 missense 0.0 benign 0.29 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1197351031 9q31.3 9 111631477G> A null A T 24 24 missense 0.017 benign 0.53 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC rs748650710 9q31.3 9 111631478C> T null A V 24 24 missense 0.0 benign 0.74 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC rs770270619 9q31.3 9 111631480C> A null P T 25 25 missense 0.04 benign 0.5 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1186834756 9q31.3 9 111631484T> C null L P 26 26 missense 0.0 benign 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1225667347 9q31.3 9 111631490C> T null P L 28 28 missense 0.0 benign 0.83 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1225667347 9q31.3 9 111631490C> G null P R 28 28 missense 0.045 benign 0.34 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1264165933 9q31.3 9 111631489C> T null P S 28 28 missense 0.015 benign 0.42 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs907721802 9q31.3 9 111631493C> A null A E 29 29 missense 0.018 benign 0.26 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs907721802 9q31.3 9 111631493C> T null A V 29 29 missense 0.0 benign 0.78 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1440643819 9q31.3 9 111631498C> G null L V 31 31 missense 0.082 benign 0.12 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10980984 9q31.3 9 111631504G> T null V L 33 33 0.131 missense 0.025 benign 0.53 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10980984 9q31.3 9 111631504G> C null V L 33 33 0.131 missense 0.025 benign 0.53 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10980984 cosmic curated [Cosmic]: large_intestine cosmic_study:375,cosmic_study:376 9q31.3 9 111631504G> A null V M 33 33 0.131 missense 0.264 benign 0.13 tolerated 1 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1332821008 9q31.3 9 111631508G> T null R L 34 34 missense 0.151 benign 0.2 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1395947701 9q31.3 9 111631507C> T null R W 34 34 missense 0.007 benign 0.02 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1448796758 9q31.3 9 111631510C> G null P A 35 35 missense 0.005 benign 0.21 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1287830551 9q31.3 9 111631511C> A null P H 35 35 missense 0.012 benign 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1448796758 9q31.3 9 111631510C> T null P S 35 35 missense 0.007 benign 0.37 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1327268193 9q31.3 9 111631513G> T null A S 36 36 missense 0.003 benign 0.3 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs770523679 9q31.3 9 111631519G> T null A S 38 38 missense 0.915 probably damaging 0.07 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1199775729 9q31.3 9 111631520C> T null A V 38 38 missense 0.974 probably damaging 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1420475080 9q31.3 9 111631525G> C null V L 40 40 missense 0.033 benign 0.42 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1253949277 9q31.3 9 111631528G> T null E * 41 41 stop gained 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1444088699 9q31.3 9 111631530G> T null E D 41 41 missense 0.086 benign 0.28 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs968390000 9q31.3 9 111631532G> A null G E 42 42 missense 0.913 probably damaging 0.04 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs968390000 9q31.3 9 111631532G> T null G V 42 42 missense 0.982 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs1589338291 9q31.3 9 111631544G> T null G V 46 46 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs766344689 9q31.3 9 111631547C> A null T K 47 47 missense 0.025 benign 0.94 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs766344689 9q31.3 9 111631547C> T null T M 47 47 missense 0.825 possibly damaging 0.08 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1413138772 9q31.3 9 111631550G> T null R L 48 48 missense 0.663 possibly damaging 0.05 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1171218907 9q31.3 9 111631554C> A null D E 49 49 missense 0.581 possibly damaging 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes rs566864923 9q31.3 9 111631553A> T null D V 49 49 0.0002 missense 0.039 benign 0.22 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1465886893 9q31.3 9 111631552G> T null D Y 49 49 missense 0.916 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1307196837 9q31.3 9 111631560C> G null Y * 51 51 stop gained 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1399357407 9q31.3 9 111631570G> T null G C 55 55 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1399357407 9q31.3 9 111631570G> A null G S 55 55 missense 0.989 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs771691965 9q31.3 9 111631573G> T null V L 56 56 missense 0.773 possibly damaging 0.02 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs771691965 9q31.3 9 111631573G> A null V M 56 56 missense 0.889 possibly damaging 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1450333835 9q31.3 9 111631576A> G null S G 57 57 missense 0.033 benign 0.07 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs775630762 9q31.3 9 111631579C> T null R C 58 58 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes rs532686498 9q31.3 9 111631583C> T null S L 59 59 0.0002 missense 0.23 benign 0.06 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1232198508 9q31.3 9 111631588G> T null G C 61 61 missense 0.77 possibly damaging 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1343011881 9q31.3 9 111631592A> C null K T 62 62 missense 0.537 possibly damaging 0.05 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs1589338344 9q31.3 9 111631595C> T null A V 63 63 missense 0.621 possibly damaging 0.08 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1254046094 9q31.3 9 111631600A> G null I V 65 65 missense 0.55 possibly damaging 0.04 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs947174502 9q31.3 9 111631609G> A null A T 68 68 missense 0.881 possibly damaging 0.04 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1157530057 9q31.3 9 111631619A> C null Q P 71 71 missense 0.867 possibly damaging 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1206811335 9q31.3 9 111631625C> T null A V 73 73 missense 0.997 probably damaging 0.02 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1444782234 9q31.3 9 111631628G> A null R Q 74 74 missense 0.939 probably damaging 0.03 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs1589338364 9q31.3 9 111631630C> G null R G 75 75 missense 0.794 possibly damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1252034172 9q31.3 9 111631631G> A null R H 75 75 missense 0.921 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1432254682 9q31.3 9 111631634A> G null Y C 76 76 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1168576360 9q31.3 9 111631655C> T null P L 83 83 missense 0.07 benign 0.03 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1255938123 9q31.3 9 111631654C> T null P S 83 83 missense 0.054 benign 0.1 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs760530524 9q31.3 9 111631659G> T null Q H 84 84 missense 0.408 benign 0.04 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1431663363 9q31.3 9 111631657C> A null Q K 84 84 missense 0.013 benign 0.12 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,gnomAD rs753597719 9q31.3 9 111631663G> A null G R 86 86 missense 0.592 possibly damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1360322205 9q31.3 9 111631667A> C null D A 87 87 missense 0.0 benign 0.12 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1298920536 9q31.3 9 111631669G> C null E Q 88 88 missense 0.014 benign 0.16 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1317216843 9q31.3 9 111631672G> A null G S 89 89 missense 0.017 benign 0.05 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,TOPMed,gnomAD rs552369308 9q31.3 9 111631676C> T null P L 90 90 0.000799 missense 0.0 benign 0.07 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1340006056 9q31.3 9 111631678G> T null G W 91 91 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,gnomAD rs761627108 9q31.3 9 111631687C> T null P S 94 94 missense 0.023 benign 0.06 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs112180032 9q31.3 9 111631690C> G null Q E 95 95 missense 0.003 benign 0.87 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1047778084 9q31.3 9 111631696G> C null A P 97 97 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1251392357 9q31.3 9 111631697C> T null A V 97 97 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1296047351 9q31.3 9 111631706C> G null A G 100 100 missense 0.461 possibly damaging 0.19 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1207770092 9q31.3 9 111631715T> A null L Q 103 103 missense 0.171 benign 0.42 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs867314244 9q31.3 9 111631720G> A null A T 105 105 missense 0.997 probably damaging 0.02 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1269899110 9q31.3 9 111631721C> T null A V 105 105 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs766627561 9q31.3 9 111631723A> G null T A 106 106 missense 0.155 benign 0.05 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1388804754 9q31.3 9 111631732G> A null E K 109 109 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1388804754 9q31.3 9 111631732G> C null E Q 109 109 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1451892812 9q31.3 9 111631738C> T null L F 111 111 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1451892812 9q31.3 9 111631738C> G null L V 111 111 missense 0.984 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1212247774 9q31.3 9 111666818T> C null S P 114 114 missense 0.503 possibly damaging 0.32 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ESP,ExAC,TOPMed,gnomAD rs372546622 9q31.3 9 111666821C> T null Q * 115 115 stop gained 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1489102839 9q31.3 9 111666830G> T null A S 118 118 missense 0.091 benign 0.27 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1204565767 9q31.3 9 111666831C> T null A V 118 118 missense 0.627 possibly damaging 0.17 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,gnomAD rs778762707 9q31.3 9 111666839C> T null Q * 121 121 stop gained 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1474729722 9q31.3 9 111666847C> G null Y * 123 123 stop gained 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1474729722 9q31.3 9 111666847C> A null Y * 123 123 stop gained 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC rs779628567 9q31.3 9 111666848T> A null C S 124 124 missense 0.998 probably damaging 0.48 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs746454143 9q31.3 9 111666852T> A null M K 125 125 missense 0.099 benign 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs746454143 9q31.3 9 111666852T> G null M R 125 125 missense 0.26 benign 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,gnomAD rs768611495 9q31.3 9 111666864G> T null C F 129 129 missense 0.834 possibly damaging 0.01 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,ExAC,gnomAD rs528697467 9q31.3 9 111666871T> G null D E 131 131 0.0002 missense 0.861 possibly damaging 0.11 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs747996557 9q31.3 9 111666873C> G null A G 132 132 missense 0.178 benign 0.73 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs747996557 9q31.3 9 111666873C> T null A V 132 132 missense 0.975 probably damaging 0.02 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1354456540 9q31.3 9 111666881G> T null V L 135 135 missense 0.011 benign 0.52 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1354456540 9q31.3 9 111666881G> A null V M 135 135 missense 0.127 benign 0.13 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs920207865 9q31.3 9 111666887G> A null V I 137 137 missense 0.067 benign 0.68 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs969884301 9q31.3 9 111666891C> G null P R 138 138 missense 0.987 probably damaging 0.01 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,gnomAD rs759820293 9q31.3 9 111666890C> T null P S 138 138 missense 0.698 possibly damaging 0.03 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs113951364 9q31.3 9 111666893G> C null A P 139 139 missense 0.956 probably damaging 0.33 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs538617954 9q31.3 9 111666894C> T null A V 139 139 missense 0.766 possibly damaging 0.1 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1239015418 9q31.3 9 111666900G> T null S I 141 141 missense 0.967 probably damaging 0.02 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs760644969 9q31.3 9 111666904C> A null N K 142 142 missense 0.232 benign 0.28 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,gnomAD rs775674485 9q31.3 9 111666903A> G null N S 142 142 missense 0.768 possibly damaging 0.52 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1217466195 9q31.3 9 111666906C> T null P L 143 143 missense 0.956 probably damaging 0.37 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,gnomAD rs754379804 9q31.3 9 111666912G> A null R Q 145 145 missense 0.934 probably damaging 0.04 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs776244288 9q31.3 9 111666911C> T null R W 145 145 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs939964706 9q31.3 9 111666916G> T null E D 146 146 missense 0.027 benign 0.0 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ESP,ExAC,gnomAD rs377200861 9q31.3 9 111666930C> G null A G 151 151 missense 0.691 possibly damaging 0.28 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1180185756 9q31.3 9 111666929G> A null A T 151 151 missense 0.041 benign 0.45 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,gnomAD rs758092675 9q31.3 9 111666938T> C null * R 154 154 stop lost 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 Ensembl rs1601741282 22q13.1 22 39964378T> C null S P 2 2 missense 0.0 unknown 0.07 tolerated 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed rs910273782 22q13.1 22 39964383C> G null S R 3 3 missense 0.0 unknown 0.02 deleterious 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed rs1317667301 22q13.1 22 39964385A> G null H R 4 4 missense 0.0 unknown 1.0 tolerated 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed rs1365194164 22q13.1 22 39964387G> A null E K 5 5 missense 0.0 unknown 0.25 tolerated 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed rs772945574 22q13.1 22 39964391G> T null G V 6 6 missense 0.0 unknown 0.0 deleterious 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed rs1401884210 22q13.1 22 39964397A> G null K R 8 8 missense 0.0 unknown 0.0 deleterious 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 1000Genomes rs530685978 22q13.1 22 39964399A> C null K Q 9 9 0.0002 missense 0.0 unknown 0.1 tolerated 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 Ensembl rs1042858189 22q13.1 22 39964402A> G null K E 10 10 missense 0.0 unknown 0.05 deleterious 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed rs749102745 22q13.1 22 39964403A> C null K T 10 10 missense 0.0 unknown 0.0 deleterious 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed,gnomAD rs1420781707 22q13.1 22 39964405G> A null A T 11 11 missense 0.0 unknown 0.01 deleterious 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed,gnomAD rs889494933 22q13.1 22 39964415A> G null Q R 14 14 missense 0.0 unknown 0.11 tolerated 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 Ensembl rs1297948549 22q13.1 22 39964417C> T null P S 15 15 missense 0.0 unknown 0.03 deleterious 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed rs1184043693 22q13.1 22 39964423A> G null K E 17 17 missense 0.0 unknown 0.02 deleterious 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed rs1008307302 22q13.1 22 39964426C> T null Q * 18 18 stop gained 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed rs1195265494 22q13.1 22 39964430C> T null A V 19 19 missense 0.0 unknown 0.06 tolerated 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 Ensembl rs772865677 22q13.1 22 39964434G> C null K N 20 20 missense 0.0 unknown 0.04 deleterious 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 Ensembl rs934530393 22q13.1 22 39964438A> G null M V 22 22 missense 0.0 unknown 0.1 tolerated 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 1000Genomes rs548731683 22q13.1 22 39964444G> A null E K 24 24 0.0002 missense 0.0 unknown 0.16 tolerated 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed rs1285090426 22q13.1 22 39964449A> T null E D 25 25 missense 0.0 unknown 0.55 tolerated 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 Ensembl rs112093393 22q13.1 22 39964448A> G null E G 25 25 missense 0.0 unknown 0.03 deleterious 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 Ensembl rs112093393 22q13.1 22 39964448A> T null E V 25 25 missense 0.0 unknown 0.03 deleterious 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed rs1209440421 22q13.1 22 39964453A> T null K * 27 27 stop gained 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed rs1354579423 22q13.1 22 39964454A> G null K R 27 27 missense 0.0 unknown 0.57 tolerated 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 gnomAD rs1314932549 22q13.1 22 39964456G> A null A T 28 28 missense 0.0 unknown 0.06 tolerated 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 1000Genomes rs561892654 22q13.1 22 39964472A> G null Q R 33 33 0.0002 missense 0.0 unknown 0.04 deleterious 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed,gnomAD rs1414198674 22q13.1 22 39964475A> C null K T 34 34 missense 0.0 unknown 0.02 deleterious 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed,gnomAD rs950028905 22q13.1 22 39964483C> T null Q * 37 37 stop gained 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed rs1295986482 22q13.1 22 39964492C> T null L F 40 40 missense 0.0 unknown 0.07 tolerated 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 gnomAD rs1390166424 22q13.1 22 39964498G> A null V M 42 42 missense 0.0 unknown 0.0 deleterious 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed rs1009960253 22q13.1 22 39964504A> C null K Q 44 44 missense 0.0 unknown 0.16 tolerated 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed rs1021486452 22q13.1 22 39964507G> C null A P 45 45 missense 0.0 unknown 0.02 deleterious 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed rs1021486452 22q13.1 22 39964507G> A null A T 45 45 missense 0.0 unknown 0.11 tolerated 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed rs1044803074 22q13.1 22 39964508C> T null A V 45 45 missense 0.0 unknown 0.2 tolerated 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed,gnomAD rs1006051760 22q13.1 22 39964516G> A null V M 48 48 missense 0.0 unknown 0.24 tolerated 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 1000Genomes,TOPMed,gnomAD rs566144131 22q13.1 22 39964525G> A null G R 51 51 0.000399 missense 0.0 unknown 0.0 deleterious 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed,gnomAD rs927193490 22q13.1 22 39964528C> A null P T 52 52 missense 0.0 unknown 0.02 deleterious 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed,gnomAD rs897307469 22q13.1 22 39964531C> G null L V 53 53 missense 0.0 unknown 0.01 deleterious 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed rs993247212 22q13.1 22 39964544G> A null G E 57 57 missense 0.0 unknown 0.04 deleterious 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 TOPMed,gnomAD rs1209588458 22q13.1 22 39964555T> G null S A 61 61 missense 0.0 unknown 0.0 deleterious 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 Ensembl rs994366137 22q13.1 22 39964556C> T null S F 61 61 missense 0.0 unknown 0.03 deleterious 0 A0A024R1R8 hCG_2014768 Translation machinery-associated protein 7 gnomAD rs1481613386 22q13.1 22 39964566A> T null K N 64 64 missense 0.0 unknown 0.08 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1396946272 15q25.2 15 82628324C> T null W * 3 3 stop gained 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs759760225 15q25.2 15 82628325C> G null W S 3 3 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1036094073 15q25.2 15 82628307G> A null T I 9 9 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1261016853 15q25.2 15 82628300A> C null F L 11 11 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1486644364 15q25.2 15 82628301A> T null F Y 11 11 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs1567232719 15q25.2 15 82628298C> T null C Y 12 12 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1345176862 15q25.2 15 82628295T> A null H L 13 13 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1345176862 15q25.2 15 82628295T> C null H R 13 13 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1209687019 15q25.2 15 82628296G> A null H Y 13 13 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1234964417 15q25.2 15 82628291G> C null I M 14 14 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1281799504 15q25.2 15 82628292A> T null I N 14 14 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs555797882 15q25.2 15 82628289T> C null Y C 15 15 0.000599 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,gnomAD rs542968277 15q25.2 15 82628287T> C null S G 16 16 0.0002 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs921507560 15q25.2 15 82628277T> A null H L 19 19 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs921507560 15q25.2 15 82628277T> C null H R 19 19 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes rs192139739 15q25.2 15 82628278G> A null H Y 19 19 0.0002 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1413133412 15q25.2 15 82628274T> C null D G 20 20 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs186787813 15q25.2 15 82628257A> C null C G 26 26 0.0002 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs186787813 15q25.2 15 82628257A> G null C R 26 26 0.0002 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1173156073 15q25.2 15 82628256C> G null C S 26 26 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs551153300 15q25.2 15 82628253C> T null G D 27 27 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1194324801 15q25.2 15 82628251T> C null K E 28 28 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1255875594 15q25.2 15 82628247G> C null S C 29 29 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1255875594 15q25.2 15 82628247G> T null S Y 29 29 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1484460362 15q25.2 15 82628241T> G null K T 31 31 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1210897406 15q25.2 15 82628236A> G null C R 33 33 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,TOPMed rs533959069 15q25.2 15 82628229G> A null T I 35 35 0.000399 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1307901601 15q25.2 15 82628218T> A null S C 39 39 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs150842273 15q25.2 15 82628203C> A null E * 44 44 0.001797 stop gained 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs150842273 15q25.2 15 82628203C> T null E K 44 44 0.001797 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1390960145 15q25.2 15 82628192A> C null I M 47 47 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1313563570 15q25.2 15 82628194T> C null I V 47 47 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs988426601 15q25.2 15 82628189C> G null L F 48 48 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs967465790 15q25.2 15 82628187C> G null G A 49 49 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1300467834 15q25.2 15 82628183C> G null M I 50 50 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1394404969 15q25.2 15 82628185T> C null M V 50 50 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1368281046 15q25.2 15 82628180C> T null M I 51 51 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,TOPMed,gnomAD rs557389544 15q25.2 15 82628181A> G null M T 51 51 0 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs958274616 15q25.2 15 82628169T> G null D A 55 55 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,TOPMed rs183470527 15q25.2 15 82628153C> T null M I 60 60 0.001198 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1419667704 15q25.2 15 82628149C> T null A T 62 62 missense 0.682 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs975789910 15q25.2 15 82628145A> G null L S 63 63 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,gnomAD rs548554449 15q25.2 15 82628142G> C null S * 64 64 0.0002 stop gained 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1436774265 15q25.2 15 82628143A> T null S T 64 64 missense 0.015 benign 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202018031 15q25.2 15 82627360T> G null E A 68 68 0.000399 missense 0.003 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1239944704 15q25.2 15 82627358C> A null A S 69 69 missense 0.001 benign 0.18 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs748700912 15q25.2 15 82627354C> T null G E 70 70 missense 0.925 probably damaging 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1443716055 15q25.2 15 82627349T> A null I L 72 72 missense 0.0 benign 0.32 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs760880558 15q25.2 15 82627347T> C null I M 72 72 missense 0.075 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1347429740 15q25.2 15 82627346T> C null K E 73 73 missense 0.107 benign 0.43 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1194262152 15q25.2 15 82627345T> G null K T 73 73 missense 0.265 benign 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs528444931 15q25.2 15 82627343C> G null D H 74 74 0.000599 missense 0.943 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1399767623 15q25.2 15 82627340A> C null C G 75 75 missense 0.405 benign 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1399767623 15q25.2 15 82627340A> G null C R 75 75 missense 0.628 possibly damaging 0.07 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1180577628 15q25.2 15 82627334C> T null D N 77 77 missense 0.691 possibly damaging 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1382239197 15q25.2 15 82627328G> A null Q * 79 79 stop gained 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1382239197 15q25.2 15 82627328G> C null Q E 79 79 missense 0.107 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs748604452 15q25.2 15 82627327T> C null Q R 79 79 missense 0.201 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs868523340 15q25.2 15 82627325C> A null E * 80 80 stop gained 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs868523340 15q25.2 15 82627325C> T null E K 80 80 missense 0.121 benign 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61733713 15q25.2 15 82627322C> T null A T 81 81 0.007788 missense 0.003 benign 0.33 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs1567231999 15q25.2 15 82627319G> A null P S 82 82 missense 0.053 benign 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1393930063 15q25.2 15 82627316C> G null A P 83 83 missense 0.824 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC rs769267245 15q25.2 15 82627313G> A null L F 84 84 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs370569656 15q25.2 15 82627312A> G null L P 84 84 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs376164471 15q25.2 15 82627307T> C null T A 86 86 missense 0.107 benign 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs374349658 15q25.2 15 82627306G> A null T M 86 86 missense 0.561 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1286685439 15q25.2 15 82627300C> T null S N 88 88 missense 0.116 benign 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs780574053 15q25.2 15 82627298T> G null N H 89 89 missense 0.824 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs897203190 15q25.2 15 82627291T> C null N S 91 91 missense 0.0 benign 0.1 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs370977022 15q25.2 15 82627286A> C null F V 93 93 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs751474815 15q25.2 15 82627282C> T null R Q 94 94 missense 0.007 benign 0.05 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs758301379 15q25.2 15 82627279C> T null R K 95 95 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1429146037 15q25.2 15 82627271C> T null A T 98 98 missense 0.005 benign 0.81 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,TOPMed,gnomAD rs377521130 15q25.2 15 82627268T> C null I V 99 99 missense 0.023 benign 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs923070859 15q25.2 15 82627265A> T null L M 100 100 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1302451796 15q25.2 15 82627259T> C null N D 102 102 missense 0.015 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1400195288 15q25.2 15 82627253G> C null L V 104 104 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1171141221 15q25.2 15 82627249T> C null D G 105 105 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1425697191 15q25.2 15 82627243C> G null S T 107 107 missense 0.003 benign 0.51 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs760817775 15q25.2 15 82627235A> G null C R 110 110 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs773415266 15q25.2 15 82627234C> T null C Y 110 110 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1485440143 15q25.2 15 82627232T> C null T A 111 111 missense 0.022 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1225676826 15q25.2 15 82627231G> A null T I 111 111 missense 0.663 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs941472138 15q25.2 15 82627229T> C null T A 112 112 missense 0.183 benign 0.05 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs767520769 15q25.2 15 82627223T> C null I V 114 114 missense 0.0 benign 0.28 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs761900804 15q25.2 15 82627216C> T null R Q 116 116 missense 0.005 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP rs369500861 15q25.2 15 82627209A> C null I M 118 118 missense 0.005 benign 0.09 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1318784954 15q25.2 15 82627211T> C null I V 118 118 missense 0.0 benign 0.73 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs769357207 15q25.2 15 82627207T> A null H L 119 119 missense 0.058 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs774544798 15q25.2 15 82627208G> A null H Y 119 119 missense 0.201 benign 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs749802457 15q25.2 15 82627204T> C null D G 120 120 missense 0.079 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs776012986 15q25.2 15 82627197C> G null L F 122 122 missense 0.018 benign 0.1 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs751767966 15q25.2 15 82571528G> T null F L 125 125 missense 0.006 benign 0.31 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs752803486 15q25.2 15 82571521A> C null S A 128 128 missense 0.359 benign 0.13 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs765813900 15q25.2 15 82571514T> G null E A 130 130 missense 0.001 benign 0.16 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs759956063 15q25.2 15 82571513T> A null E D 130 130 missense 0.003 benign 0.11 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs181711228 15q25.2 15 82571511G> C null T R 131 131 0.000599 missense 0.219 benign 0.07 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs771141046 15q25.2 15 82571505G> T null T K 133 133 missense 0.036 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1257618465 15q25.2 15 82571500T> C null R G 135 135 missense 0.154 benign 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1301303824 15q25.2 15 82571493A> G null L P 137 137 missense 0.999 probably damaging 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs201068240 15q25.2 15 82571485T> C null T A 140 140 0.000399 missense 0.173 benign 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs998507815 15q25.2 15 82571484G> A null T I 140 140 missense 0.663 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs201068240 15q25.2 15 82571485T> G null T P 140 140 0.000399 missense 0.009 benign 0.06 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs998507815 15q25.2 15 82571484G> C null T S 140 140 missense 0.029 benign 0.39 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs537799390 15q25.2 15 82571481G> C null S C 141 141 missense 0.027 benign 0.1 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs537799390 15q25.2 15 82571481G> A null S F 141 141 missense 0.885 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374422926 15q25.2 15 82571478G> A null A V 142 142 0.0002 missense 0.254 benign 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1391333807 15q25.2 15 82571475T> G null Q P 143 143 missense 0.564 possibly damaging 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1391333807 15q25.2 15 82571475T> C null Q R 143 143 missense 0.124 benign 0.06 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1192351271 15q25.2 15 82571469G> A null S F 145 145 missense 0.858 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200188266 15q25.2 15 82571464G> A null R C 147 147 0.0002 missense 0.017 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200188266 15q25.2 15 82571464G> C null R G 147 147 0.0002 missense 0.535 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs778190180 15q25.2 15 82571463C> A null R L 147 147 missense 0.372 benign 0.05 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1394173250 15q25.2 15 82571461C> T null G S 148 148 missense 0.817 possibly damaging 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1163808161 15q25.2 15 82571458G> A null L F 149 149 missense 0.914 probably damaging 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs758663360 15q25.2 15 82571457A> C null L R 149 149 missense 0.716 possibly damaging 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1187561538 15q25.2 15 82571449C> A null A S 152 152 missense 0.173 benign 0.07 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1370982565 15q25.2 15 82571440A> T null L M 155 155 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1418000076 15q25.2 15 82571436C> A null C F 156 156 missense 0.885 possibly damaging 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs765216065 15q25.2 15 82571434G> A null L F 157 157 missense 0.997 probably damaging 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs986269316 15q25.2 15 82571433A> C null L R 157 157 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs774915539 15q25.2 15 82571424T> C null Q R 160 160 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1168259742 15q25.2 15 82571416T> A null S C 163 163 missense 0.891 possibly damaging 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP rs373592605 15q25.2 15 82571413G> C null L V 164 164 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs971561948 15q25.2 15 82571398G> C null R G 169 169 missense 0.736 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1266113402 15q25.2 15 82571397C> T null R Q 169 169 missense 0.072 benign 0.09 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs766794382 15q25.2 15 82571394G> A null P L 170 170 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1312155443 15q25.2 15 82571389T> C null S G 172 172 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs773540758 15q25.2 15 82571385G> A null T I 173 173 missense 0.827 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1303579681 15q25.2 15 82571378G> C null D E 175 175 missense 0.038 benign 0.19 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs761444395 15q25.2 15 82571376G> A null S L 176 176 missense 0.085 benign 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs370471256 15q25.2 15 82571364G> T null A D 180 180 missense 0.075 benign 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs202165773 15q25.2 15 82571357G> T null S R 182 182 missense 0.211 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1160416512 15q25.2 15 82571349T> C null H R 185 185 missense 0.037 benign 0.09 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs376051599 15q25.2 15 82571346G> A null S L 186 186 missense 0.56 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs376051599 15q25.2 15 82571346G> C null S W 186 186 missense 0.971 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1411739407 15q25.2 15 82557980C> G null S T 189 189 missense 0.107 benign 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1486474469 15q25.2 15 82557977A> G null M T 190 190 missense 0.058 benign 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs374108325 15q25.2 15 82557975G> A null L F 191 191 0.0002 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs768896324 15q25.2 15 82557971T> C null H R 192 192 missense 0.023 benign 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,gnomAD rs377642839 15q25.2 15 82557960C> T null G R 196 196 missense 0.967 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs1596014505 15q25.2 15 82557957T> C null N D 197 197 missense 0.053 benign 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1178813350 15q25.2 15 82557956T> C null N S 197 197 missense 0.001 benign 0.36 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1383859431 15q25.2 15 82557947C> T null G E 200 200 missense 0.187 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs897294113 15q25.2 15 82557938G> A null P L 203 203 missense 0.372 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs780099982 15q25.2 15 82557926A> G null L P 207 207 missense 0.999 probably damaging 0.1 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1198907027 15q25.2 15 82557924G> T null P T 208 208 missense 0.439 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1037625600 15q25.2 15 82557918C> T null D N 210 210 missense 0.318 benign 0.05 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1287135294 15q25.2 15 82557909C> A null G W 213 213 missense 0.938 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1431462434 15q25.2 15 82557905G> C null S C 214 214 missense 0.518 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1173149377 15q25.2 15 82557892G> T null D E 218 218 missense 0.015 benign 0.7 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs781571987 15q25.2 15 82557888A> G null F L 220 220 missense 0.009 benign 0.1 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs751930618 15q25.2 15 82557885G> C null P A 221 221 missense 0.179 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs944212857 15q25.2 15 82557884G> A null P L 221 221 missense 0.647 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs751930618 15q25.2 15 82557885G> A null P S 221 221 missense 0.046 benign 0.12 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1436890245 15q25.2 15 82557882C> T null A T 222 222 missense 0.003 benign 0.23 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs763694189 15q25.2 15 82557870T> C null R G 226 226 missense 0.675 possibly damaging 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1440455205 15q25.2 15 82557867C> T null G R 227 227 missense 0.59 possibly damaging 0.13 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs762664847 15q25.2 15 82557861G> A null R C 229 229 missense 0.938 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs866404089 15q25.2 15 82557860C> T null R H 229 229 missense 0.039 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs866404089 15q25.2 15 82557860C> A null R L 229 229 missense 0.796 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs762664847 15q25.2 15 82557861G> T null R S 229 229 missense 0.736 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs764781490 15q25.2 15 82557852T> C null T A 232 232 missense 0.001 benign 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs200353216 15q25.2 15 82557848C> T null R Q 233 233 missense 0.014 benign 0.13 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs374178054 15q25.2 15 82557849G> A null R W 233 233 missense 0.857 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs760432506 15q25.2 15 82557845G> A null P L 234 234 missense 0.385 benign 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs377214567 15q25.2 15 82557840G> C null L V 236 236 missense 0.513 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs780115988 15q25.2 15 82557812T> C null D G 245 245 missense 0.864 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1233363237 15q25.2 15 82557777G> A null H Y 257 257 missense 0.022 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1206392622 15q25.2 15 82557774G> T null L I 258 258 missense 0.007 benign 0.06 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs990051817 15q25.2 15 82557761A> G null I T 262 262 missense 0.496 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1312838117 15q25.2 15 82556118C> T null S N 264 264 missense 0.022 benign 0.12 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs940994460 15q25.2 15 82556113G> A null R C 266 266 missense 0.997 probably damaging 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1361276650 15q25.2 15 82556112C> T null R H 266 266 missense 0.996 probably damaging 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs1567174479 15q25.2 15 82556107A> C null S A 268 268 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1177161932 15q25.2 15 82556095G> A null P S 272 272 missense 0.998 probably damaging 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1428289662 15q25.2 15 82556090G> C null F L 273 273 missense 0.389 benign 0.1 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs771402341 15q25.2 15 82556083G> T null L M 276 276 missense 0.015 benign 0.1 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1199822461 15q25.2 15 82556076C> G null G A 278 278 missense 0.022 benign 0.07 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1301504898 15q25.2 15 82556077C> G null G R 278 278 missense 0.748 possibly damaging 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs758747685 15q25.2 15 82556073C> T null G D 279 279 missense 0.124 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs1567174374 15q25.2 15 82556068G> A null P S 281 281 missense 0.022 benign 0.26 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs374639193 15q25.2 15 82556065T> C null R G 282 282 missense 0.6 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1256446072 15q25.2 15 82556064C> T null R K 282 282 missense 0.038 benign 0.32 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1341235188 15q25.2 15 82556049A> G null M T 287 287 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs916554329 15q25.2 15 82556050T> C null M V 287 287 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1312024593 15q25.2 15 82556046C> T null G E 288 288 missense 0.242 benign 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs1567174322 15q25.2 15 82556047C> T null G R 288 288 missense 0.015 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs765897586 15q25.2 15 82556043A> G null V A 289 289 missense 0.022 benign 0.29 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs202101964 15q25.2 15 82556044C> T null V I 289 289 missense 0.225 benign 0.07 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs767240699 15q25.2 15 82556040C> T null G E 290 290 missense 0.436 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs371798240 15q25.2 15 82556041C> G null G R 290 290 missense 0.837 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs761721227 15q25.2 15 82556037G> A null S F 291 291 missense 0.93 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs765510280 15q25.2 15 82556034C> T null R Q 292 292 missense 0.007 benign 0.07 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs774102152 15q25.2 15 82556035G> A null R W 292 292 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs776707753 15q25.2 15 82556030C> T null M I 293 293 missense 0.009 benign 0.06 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs776707753 15q25.2 15 82556030C> G null M I 293 293 missense 0.009 benign 0.06 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs201992482 15q25.2 15 82556031A> G null M T 293 293 0.0002 missense 0.068 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs201042979 15q25.2 15 82556029C> T null D N 294 294 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs773719815 15q25.2 15 82556021C> G null E D 296 296 missense 0.001 benign 0.56 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs747500576 15q25.2 15 82556022T> C null E G 296 296 missense 0.085 benign 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1200773337 15q25.2 15 82556017C> G null A P 298 298 missense 0.998 probably damaging 0.09 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs772436267 15q25.2 15 82556013G> C null A G 299 299 missense 0.461 possibly damaging 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1268935356 15q25.2 15 82555987T> C null T A 308 308 missense 0.003 benign 0.51 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs779412598 15q25.2 15 82555986G> A null T I 308 308 missense 0.173 benign 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs779412598 15q25.2 15 82555986G> C null T S 308 308 missense 0.019 benign 0.37 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1314110836 15q25.2 15 82555975T> C null K E 312 312 missense 0.496 possibly damaging 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs375007947 15q25.2 15 82555973C> A null K N 312 312 missense 0.677 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs978321225 15q25.2 15 82555966G> A null P S 315 315 missense 0.866 possibly damaging 0.15 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1053438406 15q25.2 15 82555963C> T null G R 316 316 missense 0.9 possibly damaging 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1333714042 15q25.2 15 82555959G> A null A V 317 317 missense 0.23 benign 0.06 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1396851769 15q25.2 15 82555947G> A null P L 321 321 missense 0.947 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs375566002 15q25.2 15 82555939C> T null D N 324 324 missense 0.006 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1369653545 15q25.2 15 82555936G> T null L I 325 325 missense 0.337 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1324050964 15q25.2 15 82555935A> G null L P 325 325 missense 0.914 probably damaging 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs757183251 15q25.2 15 82555933G> A null L F 326 326 missense 0.066 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed rs199575057 15q25.2 15 82555930C> T null E K 327 327 0.0002 missense 0.005 benign 0.09 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1236141936 15q25.2 15 82555929T> A null E V 327 327 missense 0.154 benign 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs771010179 15q25.2 15 82555923G> A null P L 329 329 missense 0.382 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs759760492 15q25.2 15 82555924G> A null P S 329 329 missense 0.04 benign 0.18 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1218570054 15q25.2 15 82555914G> A null P L 332 332 missense 0.826 possibly damaging 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs766390631 15q25.2 15 82555899C> T null R K 337 337 missense 0.573 possibly damaging 0.05 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1325006379 15q25.2 15 82555896T> C null E G 338 338 missense 0.6 possibly damaging 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs760857489 15q25.2 15 82555897C> T null E K 338 338 missense 0.523 possibly damaging 0.07 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs371097233 15q25.2 15 82555889C> A null R S 340 340 missense 0.311 benign 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1230915788 15q25.2 15 82555879G> T null Q K 344 344 missense 0.968 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1322512092 15q25.2 15 82555870C> T null A T 347 347 missense 0.814 possibly damaging 0.02 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1265368312 15q25.2 15 82553989C> A null V L 348 348 missense 0.095 benign 0.21 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1442284803 15q25.2 15 82553964C> T null S N 356 356 missense 0.994 probably damaging 0.02 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs775717963 15q25.2 15 82553963A> C null S R 356 356 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1413976965 15q25.2 15 82553957C> A null Q H 358 358 missense 0.015 benign 0.04 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs769544216 15q25.2 15 82553958T> C null Q R 358 358 missense 0.52 possibly damaging 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs375580464 15q25.2 15 82553952G> C null P R 360 360 missense 0.925 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs770390317 15q25.2 15 82553949G> A null P L 361 361 missense 0.866 possibly damaging 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs372549710 15q25.2 15 82553950G> A null P S 361 361 missense 0.187 benign 0.05 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs777735904 15q25.2 15 82553946C> T null R Q 362 362 missense 0.007 benign 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC rs758299678 15q25.2 15 82553925T> C null Y C 369 369 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs752604379 15q25.2 15 82553914C> T null V M 373 373 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs375484108 15q25.2 15 82553887T> C null I V 382 382 missense 0.978 probably damaging 0.11 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1445702584 15q25.2 15 82553553C> T null G E 386 386 missense 1.0 probably damaging 0.36 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1177230227 15q25.2 15 82553551A> T null L I 387 387 missense 0.99 probably damaging 0.17 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs778770274 15q25.2 15 82553548C> T null V I 388 388 missense 0.003 benign 0.81 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1204738005 15q25.2 15 82553542T> C null T A 390 390 missense 0.775 possibly damaging 0.27 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1378813542 15q25.2 15 82553541G> C null T S 390 390 missense 0.826 possibly damaging 0.25 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1450571194 15q25.2 15 82553539A> G null F L 391 391 missense 0.979 probably damaging 0.02 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1287067981 15q25.2 15 82553536G> A null R C 392 392 missense 0.003 benign 0.09 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs754687553 15q25.2 15 82553535C> T null R H 392 392 missense 0.003 benign 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs749088988 15q25.2 15 82553523G> T null S Y 396 396 missense 0.814 possibly damaging 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1308430737 15q25.2 15 82553521A> C null L V 397 397 missense 0.203 benign 0.26 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1237753733 15q25.2 15 82553517C> T null S N 398 398 missense 0.009 benign 0.08 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1018099950 15q25.2 15 82553481C> T null R Q 410 410 missense 0.82 possibly damaging 0.08 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs781607914 15q25.2 15 82553482G> A null R W 410 410 missense 0.911 probably damaging 0.02 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1298995502 15q25.2 15 82553469T> C null K R 414 414 missense 0.991 probably damaging 0.08 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1435971404 15q25.2 15 82553461T> C null M V 417 417 missense 0.0 benign 0.44 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1348224605 15q25.2 15 82553455T> C null K E 419 419 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1310192665 15q25.2 15 82552613T> C null Y C 421 421 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs755502093 15q25.2 15 82552601A> C null V G 425 425 missense 0.93 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs776809406 15q25.2 15 82552602C> T null V I 425 425 missense 0.488 possibly damaging 0.41 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,TOPMed rs374285215 15q25.2 15 82552595T> A null E V 427 427 missense 0.9 possibly damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200502593 15q25.2 15 82552585C> A null K N 430 430 0.002995 missense 0.866 possibly damaging 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs982099662 15q25.2 15 82552584A> C null S A 431 431 missense 0.145 benign 0.07 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1401919754 15q25.2 15 82552583G> A null S F 431 431 missense 0.13 benign 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs760324550 15q25.2 15 82552577C> T null R Q 433 433 missense 0.99 probably damaging 0.3 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1446337800 15q25.2 15 82552574G> A null S F 434 434 missense 0.347 benign 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs200180986 15q25.2 15 82552566G> C null Q E 437 437 missense 0.415 benign 0.09 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs761271959 15q25.2 15 82552565T> C null Q R 437 437 missense 0.52 possibly damaging 0.05 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs768534811 15q25.2 15 82552562G> A null A V 438 438 missense 0.623 possibly damaging 0.02 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs762926242 15q25.2 15 82552554G> A null H Y 441 441 missense 0.201 benign 0.12 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,gnomAD rs370076554 15q25.2 15 82552551C> A null D Y 442 442 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs185845489 15q25.2 15 82552547G> A null P L 443 443 0.0002 missense 0.007 benign 0.81 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC rs747259960 15q25.2 15 82552540G> T null S R 445 445 missense 0.775 possibly damaging 0.06 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1244692716 15q25.2 15 82552541C> G null S T 445 445 missense 0.675 possibly damaging 0.08 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1372269615 15q25.2 15 82552538G> A null P L 446 446 missense 0.466 possibly damaging 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs777908639 15q25.2 15 82552535T> C null D G 447 447 missense 0.121 benign 0.17 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs1375173029 15q25.2 15 82552529A> G null L P 449 449 missense 0.003 benign 0.08 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed rs375776536 15q25.2 15 82552520T> C null Y C 452 452 missense 0.891 possibly damaging 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1005914277 15q25.2 15 82552512T> G null K Q 455 455 missense 0.997 probably damaging 0.03 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1318565769 15q25.2 15 82552508A> G null M T 456 456 missense 0.546 possibly damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs748240361 15q25.2 15 82552499C> T null R Q 459 459 missense 0.996 probably damaging 0.04 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1229767581 15q25.2 15 82552492C> T null M I 461 461 missense 0.121 benign 0.32 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs373879261 15q25.2 15 82552491G> A null R C 462 462 missense 0.938 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1312676021 15q25.2 15 82552490C> T null R H 462 462 missense 0.938 probably damaging 0.05 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC rs376299266 15q25.2 15 82552488A> G null C R 463 463 missense 0.998 probably damaging 0.15 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1227058059 15q25.2 15 82552483C> G null K N 464 464 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1385458554 15q25.2 15 82552481T> C null E G 465 465 missense 0.737 possibly damaging 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1184269268 15q25.2 15 82549646G> T null P T 470 470 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs751188082 15q25.2 15 82549640C> T null V I 472 472 missense 0.99 probably damaging 0.11 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs990702450 15q25.2 15 82549629G> C null D E 475 475 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs936176471 15q25.2 15 82549631C> T null D N 475 475 missense 0.998 probably damaging 0.02 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs752225468 15q25.2 15 82549628T> A null S C 476 476 missense 0.911 probably damaging 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs759530064 15q25.2 15 82549615C> T null R Q 480 480 missense 0.005 benign 0.05 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1351988587 15q25.2 15 82549616G> A null R W 480 480 missense 0.005 benign 0.07 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1165931299 15q25.2 15 82549611G> C null S R 481 481 missense 0.316 benign 0.12 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs776300873 15q25.2 15 82549610G> C null P A 482 482 missense 0.879 possibly damaging 0.12 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1321247240 15q25.2 15 82549609G> A null P L 482 482 missense 0.943 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs200654665 15q25.2 15 82549604G> C null Q E 484 484 missense 0.979 probably damaging 0.02 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes rs186381324 15q25.2 15 82549599C> G null R S 485 485 missense 0.996 probably damaging 0.08 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1441282187 15q25.2 15 82549585C> T null R K 490 490 missense 0.001 benign 1.0 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs375054209 15q25.2 15 82549582G> A null T M 491 491 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs768842586 15q25.2 15 82549580C> A null V L 492 492 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1362885918 15q25.2 15 82549574C> T null V I 494 494 missense 0.99 probably damaging 0.05 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs775536915 15q25.2 15 82549554C> T null M I 500 500 missense 0.018 benign 0.06 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs1595995722 15q25.2 15 82549525A> G null L S 510 510 missense 0.447 possibly damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1269633995 15q25.2 15 82549522T> C null N S 511 511 missense 0.229 benign 0.03 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202224849 15q25.2 15 82549520C> T null D N 512 512 0.0002 missense 0.998 probably damaging 0.02 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1468206938 15q25.2 15 82549501A> G null V A 518 518 missense 0.173 benign 0.06 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1255084612 15q25.2 15 82549502C> G null V L 518 518 missense 0.07 benign 0.15 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs752310882 15q25.2 15 82549498T> C null Y C 519 519 missense 0.999 probably damaging 0.04 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs375678414 15q25.2 15 82549493C> T null G R 521 521 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs375678414 15q25.2 15 82549493C> A null G W 521 521 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,gnomAD rs540987926 15q25.2 15 82549473G> T null H Q 527 527 0.0002 missense 0.996 probably damaging 0.03 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs1595989928 15q25.2 15 82547218G> T null F L 538 538 missense 0.979 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1279905913 15q25.2 15 82547217T> C null N D 539 539 missense 0.991 probably damaging 0.04 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1049298382 15q25.2 15 82547216T> C null N S 539 539 missense 0.987 probably damaging 0.5 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs200803573 15q25.2 15 82547207C> T null R Q 542 542 missense 0.217 benign 0.36 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1244049673 15q25.2 15 82547199G> C null L V 545 545 missense 0.802 possibly damaging 0.08 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs761026665 15q25.2 15 82547190C> T null V I 548 548 missense 0.987 probably damaging 0.38 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP rs373749169 15q25.2 15 82547184C> T null A T 550 550 missense 0.996 probably damaging 0.02 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs747825334 15q25.2 15 82547165T> C null K R 556 556 missense 0.041 benign 0.15 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs778756628 15q25.2 15 82547162G> T null T N 557 557 missense 0.996 probably damaging 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs779375273 15q25.2 15 82547151T> A null T S 561 561 missense 0.028 benign 0.17 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs748826949 15q25.2 15 82546521C> T null V I 564 564 missense 0.987 probably damaging 0.13 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,gnomAD rs370005577 15q25.2 15 82546516C> A null Q H 565 565 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs781151443 15q25.2 15 82546491G> C null L V 574 574 missense 0.003 benign 0.11 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs768893179 15q25.2 15 82546483A> C null H Q 576 576 missense 0.001 benign 0.93 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs771288550 15q25.2 15 82546476T> C null S G 579 579 missense 0.121 benign 0.36 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs777377028 15q25.2 15 82546475C> A null S I 579 579 missense 0.173 benign 0.12 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs777377028 15q25.2 15 82546475C> T null S N 579 579 missense 0.006 benign 0.41 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs777377028 15q25.2 15 82546475C> G null S T 579 579 missense 0.163 benign 0.24 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs893878284 15q25.2 15 82546467G> A null P S 582 582 missense 0.998 probably damaging 0.1 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs1051621864 15q25.2 15 82546456G> T null F L 585 585 missense 0.979 probably damaging 0.03 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs756309932 15q25.2 15 82546445T> C null D G 589 589 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1230000886 15q25.2 15 82544693T> G null K Q 594 594 missense 0.996 probably damaging 0.33 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1312415747 15q25.2 15 82544681G> A null R W 598 598 missense 0.984 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs1030220938 15q25.2 15 82544662C> T null R Q 604 604 missense 0.005 benign 1.0 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1291836785 15q25.2 15 82544653A> G null M T 607 607 missense 0.003 benign 0.31 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1214902859 15q25.2 15 82544642G> A null R C 611 611 missense 0.827 possibly damaging 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1242647902 15q25.2 15 82544641C> T null R H 611 611 missense 0.535 possibly damaging 0.05 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs1567161437 15q25.2 15 82544621G> A null R W 618 618 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs897450666 15q25.2 15 82544603C> G null D H 624 624 missense 0.621 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs897450666 15q25.2 15 82544603C> T null D N 624 624 missense 0.009 benign 0.06 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1383593068 15q25.2 15 82544599G> A null S F 625 625 missense 0.02 benign 0.0 deleterious - low confidence 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a gnomAD rs1182611261 cosmic curated [Cosmic]: endometrium cosmic_study:419 11q21 11 96371101A> G null L P 2 2 missense 0.997 probably damaging 0.0 deleterious 1 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a TOPMed,gnomAD rs1444795464 11q21 11 96371095G> A null S F 4 4 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a gnomAD rs1395404234 11q21 11 96371092A> C null L R 5 5 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a Ensembl rs1356456225 11q21 11 96371089T> C null H R 6 6 missense 0.06 benign 0.11 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a gnomAD rs1401510304 11q21 11 96371090G> A null H Y 6 6 missense 0.006 benign 0.39 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs756578172 11q21 11 96371080T> C null D G 9 9 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,TOPMed,gnomAD rs748530491 11q21 11 96371075G> A null R C 11 11 missense 0.963 probably damaging 0.05 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs199822469 cosmic curated [Cosmic]: endometrium cosmic_study:419 11q21 11 96371074C> T null R H 11 11 0.000399 missense 0.146 benign 0.08 tolerated 1 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs199822469 11q21 11 96371074C> A null R L 11 11 0.000399 missense 0.87 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs199822469 11q21 11 96371074C> G null R P 11 11 0.000399 missense 0.971 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a TOPMed rs1353352572 11q21 11 96371065T> G null Q P 14 14 missense 0.821 possibly damaging 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs755300587 11q21 11 96371060G> A null R C 16 16 missense 0.999 probably damaging 0.02 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,TOPMed,gnomAD rs751861324 11q21 11 96371059C> T null R H 16 16 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a TOPMed rs1304194006 11q21 11 96371045C> A null V L 21 21 missense 0.035 benign 0.43 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a TOPMed rs1012943632 11q21 11 96371038C> T null R K 23 23 missense 0.953 probably damaging 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,TOPMed,gnomAD rs758564028 11q21 11 96371033G> A null R C 25 25 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs147827239 11q21 11 96371032C> T null R H 25 25 missense 0.995 probably damaging 0.03 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs147827239 11q21 11 96371032C> G null R P 25 25 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,TOPMed,gnomAD rs758564028 11q21 11 96371033G> T null R S 25 25 missense 0.867 possibly damaging 0.09 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,TOPMed,gnomAD rs761794652 11q21 11 96371026T> C null K R 27 27 missense 0.024 benign 0.17 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,TOPMed,gnomAD rs200246505 11q21 11 96371019T> G null Q H 29 29 missense 0.873 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a Ensembl rs934472910 11q21 11 96371020T> A null Q L 29 29 missense 0.493 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs763850284 11q21 11 96371014T> C null K R 31 31 missense 0.864 possibly damaging 0.07 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a gnomAD rs1277661168 11q21 11 96365149T> G null E A 32 32 missense 0.659 possibly damaging 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a gnomAD rs1277661168 11q21 11 96365149T> A null E V 32 32 missense 0.954 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs757178798 11q21 11 96365147G> A null R * 33 33 stop gained 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a TOPMed,gnomAD rs1351831485 cosmic curated [Cosmic]: endometrium cosmic_study:419 11q21 11 96365146C> T null R Q 33 33 missense 0.994 probably damaging 0.02 deleterious 1 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs753848269 11q21 11 96365141C> T null E K 35 35 missense 0.74 possibly damaging 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,TOPMed,gnomAD rs776286640 11q21 11 96365134T> A null Y F 37 37 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,TOPMed,gnomAD rs763975074 11q21 11 96365135A> G null Y H 37 37 missense 0.975 probably damaging 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a gnomAD rs1173396149 11q21 11 96365131G> A null S F 38 38 missense 0.828 possibly damaging 0.03 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a TOPMed,gnomAD rs1478756839 11q21 11 96365120T> C null I V 42 42 missense 0.148 benign 0.2 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a gnomAD rs1244602418 11q21 11 96365117G> T null H N 43 43 missense 0.013 benign 0.32 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a gnomAD rs1197777100 11q21 11 96365102C> T null E K 48 48 missense 0.01 benign 0.86 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a TOPMed rs553942551 11q21 11 96365097G> T null N K 49 49 missense 0.119 benign 0.4 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ESP,TOPMed rs145938297 11q21 11 96365095C> T null C Y 50 50 missense 0.652 possibly damaging 0.77 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a TOPMed,gnomAD rs1463409202 11q21 11 96365092G> A null S F 51 51 missense 0.015 benign 0.53 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a TOPMed,gnomAD rs1463409202 11q21 11 96365092G> T null S Y 51 51 missense 0.417 benign 0.77 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a TOPMed rs1156897210 11q21 11 96365086T> C null Q R 53 53 missense 0.776 possibly damaging 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs767224853 11q21 11 96365079A> C null C W 55 55 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a TOPMed,gnomAD rs1347905901 11q21 11 96365078C> G null G R 56 56 missense 0.969 probably damaging 0.1 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs142315081 11q21 11 96365069G> A null R C 59 59 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,TOPMed,gnomAD rs202142231 cosmic curated [Cosmic]: large_intestine cosmic_study:375 11q21 11 96365068C> T null R H 59 59 missense 0.997 probably damaging 0.0 deleterious 1 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a Ensembl rs577041830 11q21 11 96365065T> C null Y C 60 60 missense 0.003 benign 0.21 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs371250562 11q21 11 96365066A> G null Y H 60 60 missense 0.001 benign 0.63 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs762320483 11q21 11 96365063A> C null C G 61 61 missense 0.187 benign 0.06 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a TOPMed,gnomAD rs1369866170 11q21 11 96365054A> C null S A 64 64 missense 0.05 benign 0.35 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a gnomAD rs1176363874 11q21 11 96365053G> A null S L 64 64 missense 0.01 benign 0.6 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ESP rs145072428 11q21 11 96365042A> G null S P 68 68 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,TOPMed,gnomAD rs777290067 11q21 11 96365038C> T null G E 69 69 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs149992614 11q21 11 96365032A> C null L W 71 71 missense 0.969 probably damaging 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,TOPMed,gnomAD rs747443742 11q21 11 96365024T> G null T P 74 74 missense 0.006 benign 0.29 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs139262571 11q21 11 96365019C> G null R S 75 75 missense 0.409 benign 0.04 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,TOPMed,gnomAD rs746067996 11q21 11 96365014A> G null M T 77 77 missense 0.807 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs757384777 11q21 11 96365007T> C null I M 79 79 missense 0.462 possibly damaging 0.22 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a gnomAD rs1171592071 11q21 11 96365008A> G null I T 79 79 missense 0.001 benign 1.0 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs370081474 cosmic curated [Cosmic]: liver cosmic_study:323 11q21 11 96365009T> C null I V 79 79 missense 0.01 benign 0.51 tolerated 1 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a TOPMed rs1254198095 11q21 11 96365001A> T null N K 81 81 missense 0.033 benign 0.02 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a TOPMed rs1483926840 11q21 11 96364997T> C null M V 83 83 missense 0.811 possibly damaging 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a TOPMed,gnomAD rs1239701750 11q21 11 96364993G> C null S * 84 84 stop gained 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs777695068 11q21 11 96364990T> G null H P 85 85 missense 0.355 benign 0.09 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a TOPMed,gnomAD rs978003769 11q21 11 96364989A> T null H Q 85 85 missense 0.01 benign 0.17 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a gnomAD rs1457199867 11q21 11 96364991G> A null H Y 85 85 missense 0.171 benign 0.14 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs756043230 11q21 11 96364985T> C null K E 87 87 missense 0.328 benign 0.23 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs151240727 11q21 11 96364984T> C null K R 87 87 missense 0.838 possibly damaging 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs538688810 11q21 11 96359178C> T null V M 89 89 0.003994 missense 0.248 benign 0.03 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs751245848 11q21 11 96359169C> T null V I 92 92 missense 0.015 benign 0.1 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a gnomAD rs1377617796 11q21 11 96359165C> T null G D 93 93 missense 0.732 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a Ensembl rs1565300322 11q21 11 96359166C> T null G S 93 93 missense 0.551 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a Ensembl rs1591162707 11q21 11 96359154C> G null A P 97 97 missense 0.534 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs143699327 11q21 11 96359151T> G null S R 98 98 missense 0.012 benign 0.06 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a TOPMed,gnomAD rs1400059466 11q21 11 96359148G> A null R C 99 99 missense 0.523 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs374755193 11q21 11 96359147C> T null R H 99 99 missense 0.618 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a TOPMed,gnomAD rs1363885370 11q21 11 96359142T> C null R G 101 101 missense 0.152 benign 0.02 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,TOPMed,gnomAD rs749998983 11q21 11 96359141C> T null R K 101 101 missense 0.003 benign 0.22 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs764806237 11q21 11 96359139T> C null I V 102 102 missense 0.0 benign 1.0 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a TOPMed rs1255442378 11q21 11 96359126A> C null L R 106 106 missense 0.773 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs752331960 11q21 11 96359123T> A null K I 107 107 missense 0.713 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a TOPMed rs998895385 11q21 11 96359121G> A null H Y 108 108 missense 0.314 benign 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a gnomAD rs1478167474 11q21 11 96359114T> A null K I 110 110 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a gnomAD rs1265458738 11q21 11 96359113T> G null K N 110 110 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,TOPMed,gnomAD rs776159948 11q21 11 96359108T> C null K R 112 112 missense 0.019 benign 0.05 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,TOPMed,gnomAD rs767858209 11q21 11 96359100G> C null Q E 115 115 missense 0.09 benign 0.11 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a Ensembl rs1591162502 11q21 11 96359097C> T null E K 116 116 missense 0.02 benign 0.22 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a TOPMed,gnomAD rs1224221809 cosmic curated [Cosmic]: endometrium cosmic_study:419 11q21 11 96359090C> T null C Y 118 118 missense 0.949 probably damaging 0.0 deleterious 1 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs759951325 11q21 11 96359087G> A null T I 119 119 missense 0.014 benign 0.07 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC rs771243683 11q21 11 96359078A> T null M K 122 122 missense 0.0 benign 1.0 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs774577085 11q21 11 96359079T> C null M V 122 122 missense 0.0 benign 0.03 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a TOPMed rs1430082307 11q21 11 96359076T> G null T P 123 123 missense 0.009 benign 0.26 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs749491502 11q21 11 96359070C> A null E * 125 125 stop gained 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs773320074 11q21 11 96359059A> T null D E 128 128 missense 0.028 benign 0.19 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a gnomAD rs1367846899 11q21 11 96359060T> C null D G 128 128 missense 0.009 benign 0.04 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a 1000Genomes,ExAC,gnomAD rs201473665 11q21 11 96359058C> T null E K 129 129 0.0002 missense 0.559 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,TOPMed,gnomAD rs781194187 11q21 11 96359055G> C null Q E 130 130 missense 0.001 benign 1.0 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,TOPMed,gnomAD rs781194187 11q21 11 96359055G> T null Q K 130 130 missense 0.013 benign 0.35 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a gnomAD rs1467133882 11q21 11 96359051A> G null V A 131 131 missense 0.926 probably damaging 0.07 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a Ensembl rs1555047003 11q21 11 96359046C> A null E * 133 133 stop gained 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC rs754865472 11q21 11 96359042G> C null T R 134 134 missense 0.072 benign 0.05 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs746878162 11q21 11 96359040C> T null V M 135 135 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs758162852 11q21 11 96359034T> C null R G 137 137 missense 0.838 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,TOPMed,gnomAD rs750127560 11q21 11 96359033C> G null R T 137 137 missense 0.403 benign 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a TOPMed rs1373068855 11q21 11 96359027A> C null F C 139 139 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs370981495 11q21 11 96359021C> A null R L 141 141 missense 0.0 benign 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs370981495 11q21 11 96359021C> T null R Q 141 141 missense 0.0 benign 1.0 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs140072300 11q21 11 96359022G> A null R W 141 141 missense 0.006 benign 0.03 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs753223173 11q21 11 96359016T> C null K E 143 143 missense 0.001 benign 1.0 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs768141681 11q21 11 96358999A> C null I M 148 148 missense 0.993 probably damaging 0.02 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs759950258 11q21 11 96358997T> C null K R 149 149 missense 0.001 benign 0.16 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs752005830 11q21 11 96358993C> G null E D 150 150 missense 0.11 benign 0.03 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a Ensembl rs1242150637 11q21 11 96358994T> A null E V 150 150 missense 0.355 benign 0.03 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a Ensembl rs866289334 11q21 11 96353714T> C null K E 151 151 missense 0.462 possibly damaging 0.15 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs763310100 11q21 11 96353711A> G null Y H 152 152 missense 0.009 benign 0.05 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ESP,TOPMed rs146137167 11q21 11 96353704T> C null Q R 154 154 missense 0.0 benign 0.51 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a 1000Genomes,ExAC,gnomAD rs200144066 11q21 11 96353696C> T null E K 157 157 0.0002 missense 0.057 benign 0.23 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,TOPMed,gnomAD rs768645326 11q21 11 96353680G> A null A V 162 162 missense 0.996 probably damaging 0.03 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs775300811 11q21 11 96353678C> T null D N 163 163 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs775300811 11q21 11 96353678C> A null D Y 163 163 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a gnomAD rs1181649103 11q21 11 96353674T> C null Y C 164 164 missense 0.628 possibly damaging 0.16 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a TOPMed rs980069562 11q21 11 96353675A> C null Y D 164 164 missense 0.113 benign 0.2 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs745727779 11q21 11 96353669G> A null Q * 166 166 stop gained 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ExAC,gnomAD rs745727779 11q21 11 96353669G> T null Q K 166 166 missense 0.009 benign 0.04 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a gnomAD rs1198219692 11q21 11 96353661C> G null E D 168 168 missense 0.991 probably damaging 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a ESP,ExAC,gnomAD rs142932570 11q21 11 96353659T> C null K R 169 169 missense 0.994 probably damaging 0.04 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a gnomAD rs1241914590 11q21 11 96353649C> G null L F 172 172 missense 0.046 benign 0.13 tolerated - low confidence 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82, isoform CRA_a Ensembl rs1381658856 11q21 11 96353650A> C null L W 172 172 missense 0.879 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed,gnomAD rs987496548 11q23.1 11 111910445C> T null R H 2 2 missense 0.999 probably damaging 0.05 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139750142 11q23.1 11 111910446G> T null R S 2 2 0.0002 missense 0.999 probably damaging 0.04 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed rs17850134 11q23.1 11 111910438C> A null E D 4 4 missense 0.007 benign 1.0 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165418 11q23.1 11 111910440C> T null E K 4 4 missense 0.844 possibly damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ExAC,TOPMed,gnomAD rs542645787 11q23.1 11 111910434C> G null D H 6 6 0.000399 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165409 11q23.1 11 111910427A> G null F S 8 8 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,gnomAD rs782223550 11q23.1 11 111910397G> A null S F 18 18 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl,dbSNP rs797044515 11q23.1 11 111910386G> A null L F 22 22 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed,gnomAD rs1185490043 11q23.1 11 111910381T> G null K N 23 23 missense 0.005 benign 0.35 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ExAC,TOPMed,gnomAD rs201474470 11q23.1 11 111910382T> C null K R 23 23 0.0002 missense 0.001 benign 0.05 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ExAC,TOPMed,gnomAD rs201474470 11q23.1 11 111910382T> G null K T 23 23 0.0002 missense 0.015 benign 0.78 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed,gnomAD rs1256600488 11q23.1 11 111910376T> C null K R 25 25 missense 0.975 probably damaging 0.03 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,TOPMed,dbSNP,gnomAD rs547282752 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111910374C> A null V L 26 26 missense 0.157 benign 0.03 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001060121 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,TOPMed,gnomAD rs547282752 11q23.1 11 111910374C> T null V M 26 26 missense 0.983 probably damaging 0.03 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ExAC,gnomAD rs553865461 11q23.1 11 111910364T> C null D G 29 29 0.0002 missense 0.663 possibly damaging 0.36 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,gnomAD rs782452521 11q23.1 11 111910362C> T null V M 30 30 missense 0.034 benign 0.22 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed rs1168775790 11q23.1 11 111910358A> G null I T 31 31 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed,dbSNP rs1029108489 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111910350G> T null H N 34 34 missense 0.841 possibly damaging 0.01 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000702354 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,gnomAD rs782728956 11q23.1 11 111910333C> A null E D 39 39 missense 0.099 benign 0.09 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,gnomAD rs782520163 cosmic curated [Cosmic]: endometrium cosmic_study:419 11q23.1 11 111910332G> A null R C 40 40 missense 1.0 probably damaging 0.0 deleterious 1 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ExAC,gnomAD rs144451841 11q23.1 11 111910331C> T null R H 40 40 0.0002 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ExAC,dbSNP,gnomAD rs144451841 [ClinVar]: Developmental cataract 11q23.1 11 111910331C> A null R L 40 40 0.0002 missense 1.0 probably damaging 0.03 deleterious 0 Developmental cataract ClinVar:RCV000203405 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed,dbSNP rs886039099 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111910327C> G null Q H 41 41 missense 1.0 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001854985 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165258 11q23.1 11 111908965A> C null D E 42 42 missense 0.488 possibly damaging 0.02 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs387907339 11q23.1 11 111908967C> A null D Y 42 42 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165257 11q23.1 11 111908953G> T null F L 46 46 missense 0.139 benign 0.08 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain dbSNP rs281865142 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908949de l null S null 48 48 frameshift 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000694268 A0A024R3B9 CRYAB Alpha-crystallin B chain dbSNP rs281865142 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908949de l null S null 48 48 frameshift 0 Myofibrillar myopathy 2 MIM:608810 ClinVar:RCV000032215 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165252 11q23.1 11 111908941C> G null E D 50 50 missense 0.089 benign 0.06 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl,dbSNP rs876657766 11q23.1 11 111908939A> G null F S 51 51 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,TOPMed,gnomAD rs781915800 11q23.1 11 111908930T> C null K R 54 54 missense 0.025 benign 1.0 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,TOPMed,dbSNP,gnomAD rs782206421 cosmic curated [Cosmic]: skin pubmed:22197931,cosmic_study:389 11q23.1 11 111908924C> T null R Q 56 56 missense 0.802 possibly damaging 0.55 tolerated 1 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,TOPMed,dbSNP,gnomAD rs534473091 11q23.1 11 111908925G> A null R W 56 56 missense 0.992 probably damaging 0.13 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,TOPMed,gnomAD rs782635893 11q23.1 11 111908920G> C null I M 57 57 missense 0.71 possibly damaging 0.03 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl,dbSNP rs876657444 11q23.1 11 111908922T> C null I V 57 57 missense 0.009 benign 0.12 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374661019 11q23.1 11 111908919G> C null P A 58 58 0.0002 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374661019 11q23.1 11 111908919G> A null P S 58 58 0.0002 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed rs1286547434 11q23.1 11 111908911A> C null D E 60 60 missense 0.206 benign 0.04 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl rs899795789 11q23.1 11 111908906T> C null D G 62 62 missense 0.989 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed rs1327383479 11q23.1 11 111908907C> T null D N 62 62 missense 0.814 possibly damaging 0.18 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl rs1566402887 11q23.1 11 111908903G> A null P L 63 63 missense 0.948 probably damaging 0.31 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed rs1208156922 11q23.1 11 111908901G> C null L V 64 64 missense 0.136 benign 0.22 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,gnomAD rs782672409 11q23.1 11 111908895T> C null I V 66 66 missense 0.276 benign 1.0 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165243 11q23.1 11 111908888G> T null S * 68 68 stop gained 0 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs139750142 [UniProt]: CTRCT16; unknown pathological significance, [ClinVar]: Dilated cardiomyopathy 1II pubmed:21866213 11q23.1 11 111910446G> A null R C 69 69 0.0002 missense 0 Cataract 16, multiple types (CTRCT16) An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT16 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. MIM:613763 pubmed:11577372,pubmed:18587492,pubmed:21866213 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs139750142 [UniProt]: CTRCT16; unknown pathological significance, [ClinVar]: Dilated cardiomyopathy 1II pubmed:21866213 11q23.1 11 111910446G> A null R C 69 69 0.0002 missense 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000691763 A0A024R3B9 CRYAB Alpha-crystallin B chain ESP,ExAC,TOPMed,gnomAD rs371079119 11q23.1 11 111908886A> G null S P 69 69 missense 0.938 probably damaging 0.01 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ESP,ExAC,TOPMed,dbSNP,gnomAD rs371079119 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Cardiomyopathy 11q23.1 11 111908886A> T null S T 69 69 missense 0.028 benign 0.2 tolerated 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV000770311 A0A024R3B9 CRYAB Alpha-crystallin B chain ESP,ExAC,TOPMed,dbSNP,gnomAD rs371079119 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Cardiomyopathy 11q23.1 11 111908886A> T null S T 69 69 missense 0.028 benign 0.2 tolerated 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000537120 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl,dbSNP rs387907336 [ClinVar]: Cataract 16 multiple types pubmed:16505043 11q23.1 11 111908874C> T null D N 73 73 missense 0.992 probably damaging 0.01 deleterious 0 Cataract 16 multiple types MIM:613763 ClinVar:RCV000034840 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,TOPMed,dbSNP,gnomAD rs782629197 [ClinVar]: Cardiomyopathy 11q23.1 11 111908865G> A null L F 76 76 missense 0.999 probably damaging 0.01 deleterious 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV001170407 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,TOPMed,gnomAD rs782629197 11q23.1 11 111908865G> C null L V 76 76 missense 0.976 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed,gnomAD rs1246649844 11q23.1 11 111908858A> T null V E 78 78 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,TOPMed,gnomAD rs781852612 11q23.1 11 111908859C> G null V L 78 78 missense 0.007 benign 0.17 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,TOPMed,gnomAD rs781852612 11q23.1 11 111908859C> T null V M 78 78 missense 0.915 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165234 11q23.1 11 111908855T> A null N I 79 79 missense 0.382 benign 0.1 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165234 11q23.1 11 111908855T> C null N S 79 79 missense 0.0 benign 0.48 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165235 11q23.1 11 111908856T> A null N Y 79 79 missense 0.484 possibly damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,gnomAD rs782799100 11q23.1 11 111908852C> T null G E 80 80 missense 0.984 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,gnomAD rs782799100 11q23.1 11 111908852C> A null G V 80 80 missense 0.779 possibly damaging 0.03 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain dbSNP rs1566402656 [ClinVar]: Cataract 16 multiple types pubmed:11577372 11q23.1 11 111908844de l null K null 83 83 frameshift 0 Cataract 16 multiple types MIM:613763 ClinVar:RCV000018466 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl rs1592506131 11q23.1 11 111908843T> C null K R 83 83 missense 0.938 probably damaging 0.16 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed,dbSNP rs104894202 [ClinVar]: Myofibrillar myopathy 2 pubmed:14681890 11q23.1 11 111908841G> A null Q * 84 84 stop gained 0 Myofibrillar myopathy 2 MIM:608810 ClinVar:RCV000018468 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed rs104894202 11q23.1 11 111908841G> C null Q E 84 84 missense 0.455 possibly damaging 0.93 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,gnomAD rs782145127 11q23.1 11 111908840T> C null Q R 84 84 missense 0.414 benign 0.43 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl rs1592506105 11q23.1 11 111908837A> G null V A 85 85 missense 0.001 benign 0.81 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed,gnomAD rs1160682106 11q23.1 11 111908835A> C null S A 86 86 missense 0.005 benign 0.61 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl,dbSNP rs868980796 [ClinVar]: Hypertrophic cardiomyopathy 11q23.1 11 111908834G> A null S F 86 86 missense 0.644 possibly damaging 0.02 deleterious 0 Hypertrophic cardiomyopathy ClinVar:RCV000768500 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl,dbSNP rs1555165228 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111908831C> T null G D 87 87 missense 0.941 probably damaging 0.53 tolerated 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000547444 A0A024R3B9 CRYAB Alpha-crystallin B chain dbSNP rs1566402514 [ClinVar]: Myofibrillar myopathy 2 pubmed:14681890 11q23.1 11 111908827_111908828de l null P null 88 88 frameshift 0 Myofibrillar myopathy 2 MIM:608810 ClinVar:RCV000018467 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165227 11q23.1 11 111908826C> T null E K 89 89 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ESP,ExAC,TOPMed,gnomAD rs374169381 11q23.1 11 111908823G> A null R C 90 90 missense 0.508 possibly damaging 0.01 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl rs907356354 11q23.1 11 111908820T> G null T P 91 91 missense 0.026 benign 0.35 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165225 11q23.1 11 111908817T> G null I L 92 92 missense 0.94 probably damaging 0.01 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,gnomAD rs782115863 11q23.1 11 111908816A> G null I T 92 92 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl,dbSNP rs1592506005 [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Cataract 16 multiple types, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908810A> G null I T 94 94 missense 0.997 probably damaging 0.0 deleterious 0 Cataract 16 multiple types MIM:613763 ClinVar:RCV001105110 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl,dbSNP rs1592506005 [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Cataract 16 multiple types, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908810A> G null I T 94 94 missense 0.997 probably damaging 0.0 deleterious 0 Fatal infantile hypertonic myofibrillar myopathy MIM:613869 ClinVar:RCV001103197 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl,dbSNP rs1592506005 [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Cataract 16 multiple types, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908810A> G null I T 94 94 missense 0.997 probably damaging 0.0 deleterious 0 Hypertrophic cardiomyopathy ClinVar:RCV000999592 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl,dbSNP rs1592506005 [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Cataract 16 multiple types, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908810A> G null I T 94 94 missense 0.997 probably damaging 0.0 deleterious 0 Myofibrillar myopathy 2 MIM:608810 ClinVar:RCV001103196 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165224 11q23.1 11 111908811T> C null I V 94 94 missense 0.047 benign 0.37 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,TOPMed,gnomAD rs199861008 11q23.1 11 111908807G> A null T I 95 95 missense 0.684 possibly damaging 0.14 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs186242388 11q23.1 11 111908805G> A null R C 96 96 0.0002 missense 0.21 benign 0.15 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,TOPMed,gnomAD rs782207078 cosmic curated [Cosmic]: large_intestine cosmic_study:376 11q23.1 11 111908804C> T null R H 96 96 missense 0.952 probably damaging 0.18 tolerated 1 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed rs1348837968 11q23.1 11 111908799C> T null E K 98 98 missense 0.488 possibly damaging 0.48 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain dbSNP rs1965352990 [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908778de l null A null 105 105 frameshift 0 Myofibrillar myopathy 2 MIM:608810 ClinVar:RCV001175167 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165218 11q23.1 11 111908777G> T null A D 105 105 missense 0.045 benign 0.17 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl rs11549441 11q23.1 11 111908778C> G null A P 105 105 missense 0.111 benign 0.1 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain dbSNP rs1566402173 [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908777de l null K null 107 107 frameshift 0 Myofibrillar myopathy 2 MIM:608810 ClinVar:RCV001334970 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl,dbSNP rs1114167341 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Cardiomyopathy, familial restrictive, 1, [UniProt]: probable disease-associated variant found in patients with restrictive cardiomyopathy; reduces CRYAB and DES localization at the Z-bands and the intercalated disk in the myocardium; cytoplasmic aggregations of CRYAB and DES pubmed:28493373 11q23.1 11 111908966T> C null D G 109 109 missense 0 Cardiomyopathy, familial restrictive, 1 MIM:115210 ClinVar:RCV000491328 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl,dbSNP rs1114167341 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Cardiomyopathy, familial restrictive, 1, [UniProt]: probable disease-associated variant found in patients with restrictive cardiomyopathy; reduces CRYAB and DES localization at the Z-bands and the intercalated disk in the myocardium; cytoplasmic aggregations of CRYAB and DES pubmed:28493373 11q23.1 11 111908966T> C null D G 109 109 missense 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000655020 A0A024R3B9 CRYAB Alpha-crystallin B chain dbSNP,gnomAD rs387907339 [UniProt]: MFM2, [ClinVar]: Myofibrillar myopathy 2 pubmed:21920752 pubmed:21920752 11q23.1 11 111908967C> G null D H 109 109 missense 0 Myofibrillar myopathy 2 MIM:608810 ClinVar:RCV000034843 A0A024R3B9 CRYAB Alpha-crystallin B chain dbSNP,gnomAD rs387907339 [UniProt]: MFM2, [ClinVar]: Myofibrillar myopathy 2 pubmed:21920752 pubmed:21920752 11q23.1 11 111908967C> G null D H 109 109 missense 0 Myopathy, myofibrillar, 2 (MFM2) A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM2 is characterized by weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, hypertrophic cardiomyopathy, and cataract in a subset of patients. MIM:608810 pubmed:12601044,pubmed:14681890,pubmed:21920752,pubmed:9731540 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl rs1801966 11q23.1 11 111908766A> T null * K 109 109 stop lost 0 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl,dbSNP rs104894201 [UniProt]: MFM2; decreased interactions with wild-type CRYAA and CRYAB but increased interactions with wild-type CRYBB2 and CRYGC; cytoplasmic aggregation, [ClinVar]: Myofibrillar myopathy 2 pubmed:12601044,pubmed:28493373,pubmed:9731540 pubmed:12601044,pubmed:12812987,pubmed:16483541,pubmed:26542570,pubmed:570292,pubmed:9731540 11q23.1 11 111908934T> C null R G 120 120 missense 0 Myofibrillar myopathy 2 MIM:608810 ClinVar:RCV000018465 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl,dbSNP rs104894201 [UniProt]: MFM2; decreased interactions with wild-type CRYAA and CRYAB but increased interactions with wild-type CRYBB2 and CRYGC; cytoplasmic aggregation, [ClinVar]: Myofibrillar myopathy 2 pubmed:12601044,pubmed:28493373,pubmed:9731540 pubmed:12601044,pubmed:12812987,pubmed:16483541,pubmed:26542570,pubmed:570292,pubmed:9731540 11q23.1 11 111908934T> C null R G 120 120 missense 0 Myopathy, myofibrillar, 2 (MFM2) A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM2 is characterized by weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, hypertrophic cardiomyopathy, and cataract in a subset of patients. MIM:608810 pubmed:12601044,pubmed:14681890,pubmed:21920752,pubmed:9731540 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150516929 [UniProt]: CMD1II pubmed:16793013 11q23.1 11 111908832C> T null G S 154 154 0.0002 missense 0 Cardiomyopathy, dilated 1II (CMD1II) A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. MIM:615184 pubmed:16483541,pubmed:16793013 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs141638421 [ClinVar]: Dilated cardiomyopathy 1II, [UniProt]: CMD1II pubmed:16483541 pubmed:16483541 11q23.1 11 111908822C> T null R H 157 157 0.0002 missense 0 Cardiomyopathy, dilated 1II (CMD1II) A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. MIM:615184 pubmed:16483541,pubmed:16793013 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs141638421 [ClinVar]: Dilated cardiomyopathy 1II, [UniProt]: CMD1II pubmed:16483541 pubmed:16483541 11q23.1 11 111908822C> T null R H 157 157 0.0002 missense 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000034838 A0A024R3B9 CRYAB Alpha-crystallin B chain ESP,TOPMed,dbSNP,gnomAD rs370803064 cosmic curated [UniProt]: CTRCT16; unknown pathological significance, [ClinVar]: Dilated cardiomyopathy 1II, [Cosmic]: large_intestine, [ClinVar]: Cardiomyopathy pubmed:18587492 cosmic_study:376 11q23.1 11 111908781C> T null A T 171 171 missense 1 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV000770310 A0A024R3B9 CRYAB Alpha-crystallin B chain ESP,TOPMed,dbSNP,gnomAD rs370803064 cosmic curated [UniProt]: CTRCT16; unknown pathological significance, [ClinVar]: Dilated cardiomyopathy 1II, [Cosmic]: large_intestine, [ClinVar]: Cardiomyopathy pubmed:18587492 cosmic_study:376 11q23.1 11 111908781C> T null A T 171 171 missense 1 Cataract 16, multiple types (CTRCT16) An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT16 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. MIM:613763 pubmed:11577372,pubmed:18587492,pubmed:21866213 A0A024R3B9 CRYAB Alpha-crystallin B chain ESP,TOPMed,dbSNP,gnomAD rs370803064 cosmic curated [UniProt]: CTRCT16; unknown pathological significance, [ClinVar]: Dilated cardiomyopathy 1II, [Cosmic]: large_intestine, [ClinVar]: Cardiomyopathy pubmed:18587492 cosmic_study:376 11q23.1 11 111908781C> T null A T 171 171 missense 1 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001861505 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1026084418 11q24.1 11 123577477G> A null G D 5 5 missense 0.89 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1026084418 11q24.1 11 123577477G> T null G V 5 5 missense 0.945 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs748022861 11q24.1 11 123577482G> C null D H 7 7 missense 0.894 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs748022861 11q24.1 11 123577482G> T null D Y 7 7 missense 0.945 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1592094492 11q24.1 11 123577485C> G null H D 8 8 missense 0.996 probably damaging 0.6 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1247125379 11q24.1 11 123577486A> C null H P 8 8 missense 0.999 probably damaging 0.11 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1478882645 11q24.1 11 123577489C> G null S C 9 9 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1435538267 11q24.1 11 123577492C> T null S L 10 10 missense 0.997 probably damaging 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC rs777548798 11q24.1 11 123577491T> A null S T 10 10 missense 0.992 probably damaging 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs770509019 11q24.1 11 123577496C> A null D E 11 11 missense 0.997 probably damaging 0.85 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1466228954 11q24.1 11 123577495A> T null D V 11 11 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1592094665 11q24.1 11 123577498A> G null K R 12 12 missense 0.997 probably damaging 0.16 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs773851458 11q24.1 11 123577501C> T null S F 13 13 missense 0.999 probably damaging 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1592094714 11q24.1 11 123577500T> C null S P 13 13 missense 0.998 probably damaging 0.11 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs2276409 11q24.1 11 123577503C> T null P S 14 14 missense 0.999 probably damaging 0.1 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1275930227 11q24.1 11 123577510C> A null T K 16 16 missense 0.999 probably damaging 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC rs761144627 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 11q24.1 11 123577513C> T null P L 17 17 missense 1.0 probably damaging 0.0 deleterious 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC rs761144627 11q24.1 11 123577513C> A null P Q 17 17 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1271474946 11q24.1 11 123577522G> A null G D 20 20 missense 0.946 probably damaging 0.23 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1218824523 11q24.1 11 123577521G> A null G S 20 20 missense 0.746 possibly damaging 0.62 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs921395364 11q24.1 11 123577524G> T null V L 21 21 missense 0.535 possibly damaging 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs921395364 cosmic curated [Cosmic]: breast cosmic_study:414 11q24.1 11 123577524G> A null V M 21 21 missense 0.919 probably damaging 0.02 deleterious 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1209232507 11q24.1 11 123577527C> A null Q K 22 22 missense 0.989 probably damaging 0.24 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1290422654 11q24.1 11 123577528A> G null Q R 22 22 missense 0.992 probably damaging 0.15 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs764365722 11q24.1 11 123577531G> A null R H 23 23 missense 0.999 probably damaging 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs764365722 11q24.1 11 123577531G> C null R P 23 23 missense 0.999 probably damaging 0.15 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1214117874 11q24.1 11 123577539T> C null S P 26 26 missense 0.998 probably damaging 0.21 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1163864464 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 11q24.1 11 123577551G> A null G S 30 30 missense 1.0 probably damaging 1.0 tolerated 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1416519760 11q24.1 11 123577555G> T null R L 31 31 missense 0.998 probably damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1416519760 11q24.1 11 123577555G> A null R Q 31 31 missense 0.997 probably damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs750564920 11q24.1 11 123577554C> T null R W 31 31 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1297932736 11q24.1 11 123577561G> A null G D 33 33 missense 0.783 possibly damaging 0.08 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs763079105 11q24.1 11 123577560G> A null G S 33 33 missense 0.079 benign 0.52 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs868846413 11q24.1 11 123577564G> A null G D 34 34 missense 0.237 benign 0.27 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs767530052 11q24.1 11 123577563G> A null G S 34 34 missense 0.012 benign 0.95 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1592095229 11q24.1 11 123577566A> C null K Q 35 35 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1592095252 11q24.1 11 123577571T> A null N K 36 36 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1592095284 11q24.1 11 123577573C> T null S F 37 37 missense 0.936 probably damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,gnomAD rs377168373 11q24.1 11 123584317C> A null S R 40 40 missense 0.998 probably damaging 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369716573 11q24.1 11 123584331A> G null N S 45 45 missense 0.012 benign 0.55 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs763984941 11q24.1 11 123594094A> C null T P 50 50 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes rs570959026 11q24.1 11 123594110A> G null N S 55 55 0.0002 missense 0.998 probably damaging 0.05 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1322809783 11q24.1 11 123594117C> A null D E 57 57 missense 0.999 probably damaging 0.14 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs765007012 11q24.1 11 123594143C> T null P L 66 66 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs531490633 11q24.1 11 123594149C> T null T M 68 68 0.000399 missense 0.884 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP rs375080947 11q24.1 11 123594758G> C null D H 82 82 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a dbSNP rs1951071576 [ClinVar]: Intellectual disability 11q24.1 11 123594776C> T null R * 88 88 stop gained 0 Intellectual disability pubmed:21956720,ClinVar:RCV001291084 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1264166646 11q24.1 11 123594792A> C null E A 93 93 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1443514559 11q24.1 11 123594801T> A null I N 96 96 missense 0.97 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs749660161 11q24.1 11 123594816A> T null N I 101 101 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1170206716 11q24.1 11 123595951C> T null R C 112 112 missense 0.919 probably damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1021191097 11q24.1 11 123595952G> A null R H 112 112 missense 0.944 probably damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1021191097 11q24.1 11 123595952G> C null R P 112 112 missense 0.914 probably damaging 0.12 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1405181132 11q24.1 11 123595957A> G null K E 114 114 missense 0.741 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1480759321 11q24.1 11 123595958A> G null K R 114 114 missense 0.799 possibly damaging 0.05 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs758654739 11q24.1 11 123595963A> G null I V 116 116 missense 0.03 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1340791303 11q24.1 11 123595969T> G null S A 118 118 missense 0.197 benign 0.38 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1304116416 11q24.1 11 123595970C> T null S F 118 118 missense 0.027 benign 0.19 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1565436059 11q24.1 11 123595973T> C null M T 119 119 missense 0.287 benign 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1406405547 11q24.1 11 123595972A> G null M V 119 119 missense 0.087 benign 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs780201409 11q24.1 11 123595994G> A null R H 126 126 missense 0.955 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1430801211 11q24.1 11 123595996C> A null L I 127 127 missense 0.873 possibly damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1013518328 11q24.1 11 123596011A> C null I L 132 132 missense 0.024 benign 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1592193958 11q24.1 11 123596032G> C null E Q 139 139 missense 0.782 possibly damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1033800528 11q24.1 11 123596035A> T null K * 140 140 stop gained 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1047450644 11q24.1 11 123600477A> T null T S 144 144 missense 0.077 benign 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1233169320 cosmic curated [Cosmic]: large_intestine, [Cosmic]: lung cosmic_study:375,cosmic_study:418 11q24.1 11 123600481C> T null S L 145 145 missense 0.703 possibly damaging 0.0 deleterious 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs753231387 11q24.1 11 123600489G> T null A S 148 148 missense 0.61 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs753231387 11q24.1 11 123600489G> A null A T 148 148 missense 0.072 benign 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1207068677 11q24.1 11 123600493G> A null R Q 149 149 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1351709340 11q24.1 11 123600492C> T null R W 149 149 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1444981884 11q24.1 11 123600501A> G null T A 152 152 missense 0.389 benign 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs900414573 11q24.1 11 123600543G> C null E Q 166 166 missense 0.301 benign 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1397025441 11q24.1 11 123603429C> G null L V 169 169 missense 0.046 benign 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs763377469 11q24.1 11 123603432T> G null C G 170 170 missense 0.209 benign 0.35 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs766719644 11q24.1 11 123603452C> G null H Q 176 176 missense 0.287 benign 0.14 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1227430707 11q24.1 11 123603465T> C null C R 181 181 missense 0.444 benign 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs756116420 11q24.1 11 123603477G> A null E K 185 185 missense 0.176 benign 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,gnomAD rs564971872 11q24.1 11 123603501G> A null E K 193 193 0.0002 missense 0.049 benign 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1373547245 11q24.1 11 123603513C> T null P S 197 197 missense 0.786 possibly damaging 0.85 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs771458771 11q24.1 11 123603521C> G null D E 199 199 missense 0.017 benign 0.34 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs769186696 11q24.1 11 123603524C> G null D E 200 200 missense 0.02 benign 0.36 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs769186696 11q24.1 11 123603524C> A null D E 200 200 missense 0.02 benign 0.36 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs747738090 11q24.1 11 123603522G> A null D N 200 200 missense 0.284 benign 0.08 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs374293269 11q24.1 11 123603527C> A null D E 201 201 missense 0.358 benign 0.5 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs895281458 11q24.1 11 123603525G> A null D N 201 201 missense 0.642 possibly damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs774716927 11q24.1 11 123603529T> G null F C 202 202 missense 0.882 possibly damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs766828280 11q24.1 11 123603528T> C null F L 202 202 missense 0.012 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs759793942 11q24.1 11 123603533C> G null N K 203 203 missense 0.135 benign 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs767820521 11q24.1 11 123603534A> G null T A 204 204 missense 0.003 benign 0.37 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1565448169 11q24.1 11 123603535C> T null T I 204 204 missense 0.079 benign 0.11 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs756273514 11q24.1 11 123603539G> T null M I 205 205 missense 0.094 benign 0.18 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs752857335 11q24.1 11 123603537A> T null M L 205 205 missense 0.003 benign 0.95 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1045479840 11q24.1 11 123603538T> G null M R 205 205 missense 0.211 benign 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs752857335 11q24.1 11 123603537A> G null M V 205 205 missense 0.097 benign 0.05 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1286717396 11q24.1 11 123605326T> A null C S 208 208 missense 0.999 probably damaging 0.64 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1049273508 11q24.1 11 123605334G> T null E D 210 210 missense 0.67 possibly damaging 0.15 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs766462983 11q24.1 11 123605336T> G null I S 211 211 missense 0.857 possibly damaging 0.16 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs766462983 11q24.1 11 123605336T> C null I T 211 211 missense 0.812 possibly damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs994687856 11q24.1 11 123605342T> A null V E 213 213 missense 0.543 possibly damaging 0.56 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs754862708 11q24.1 11 123605357T> C null V A 218 218 missense 0.011 benign 0.29 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs889307024 11q24.1 11 123605379C> G null S R 225 225 missense 0.025 benign 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs752494131 11q24.1 11 123605381G> A null S N 226 226 missense 0.025 benign 0.21 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1455008458 11q24.1 11 123605383A> G null I V 227 227 missense 0.0 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs114589175 11q24.1 11 123605400T> A null D E 232 232 0.005391 missense 0.009 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1349732962 11q24.1 11 123605417C> T null P L 238 238 missense 0.287 benign 0.17 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1307248266 11q24.1 11 123605416C> T null P S 238 238 missense 0.02 benign 0.68 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs770423087 11q24.1 11 123605429T> C null I T 242 242 missense 0.06 benign 0.41 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs779453804 11q24.1 11 123605432C> T null T I 243 243 missense 0.05 benign 0.22 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1472430563 11q24.1 11 123605435A> T null N I 244 244 missense 0.251 benign 0.15 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1205423823 11q24.1 11 123605441C> T null T I 246 246 missense 0.255 benign 0.13 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1480183400 11q24.1 11 123605443C> G null L V 247 247 missense 0.028 benign 0.25 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140366389 11q24.1 11 123605450C> G null S C 249 249 0.000399 missense 0.89 possibly damaging 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1479518380 11q24.1 11 123605452A> C null T P 250 250 missense 0.018 benign 0.35 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1592240842 11q24.1 11 123605456G> A null G E 251 251 missense 0.237 benign 0.2 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs769050280 11q24.1 11 123605458A> G null S G 252 252 missense 0.197 benign 0.1 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1354383551 11q24.1 11 123605464G> A null E K 254 254 missense 0.127 benign 0.1 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1443363619 11q24.1 11 123605467G> A null A T 255 255 missense 0.366 benign 0.22 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1282107937 11q24.1 11 123605474T> C null V A 257 257 missense 0.0 benign 0.61 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs113672412 11q24.1 11 123605473G> A null V I 257 257 missense 0.0 benign 0.68 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs759398423 11q24.1 11 123605477C> T null S L 258 258 missense 0.007 benign 0.08 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs759398423 11q24.1 11 123605477C> G null S W 258 258 missense 0.894 possibly damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs748398230 11q24.1 11 123606616G> A null G E 261 261 missense 0.982 probably damaging 0.49 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1453444317 11q24.1 11 123606619T> C null L P 262 262 missense 0.394 benign 0.27 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1476036305 11q24.1 11 123606622C> T null P L 263 263 missense 0.0 benign 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs373808855 11q24.1 11 123606621C> T null P S 263 263 missense 0.06 benign 0.11 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs373808855 11q24.1 11 123606621C> A null P T 263 263 missense 0.06 benign 0.07 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1030348550 11q24.1 11 123606625T> C null L P 264 264 missense 0.0 benign 0.34 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1383849253 11q24.1 11 123606627G> A null E K 265 265 missense 0.547 possibly damaging 0.19 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1424407150 11q24.1 11 123606635G> C null E D 267 267 missense 0.012 benign 0.42 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs771946953 11q24.1 11 123606636G> A null A T 268 268 missense 0.001 benign 0.64 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs532856454 11q24.1 11 123606637C> T null A V 268 268 0.000399 missense 0.0 benign 0.35 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1325291798 11q24.1 11 123606642G> A null E K 270 270 missense 0.06 benign 0.54 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs753560680 11q24.1 11 123606646G> A null G E 271 271 missense 0.003 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs756933883 11q24.1 11 123606650C> G null D E 272 272 missense 0.007 benign 0.32 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1380375088 11q24.1 11 123606648G> T null D Y 272 272 missense 0.741 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs757894340 11q24.1 11 123606652G> A null G E 273 273 missense 0.02 benign 0.38 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs749953166 11q24.1 11 123606651G> A null G R 273 273 missense 0.0 benign 0.25 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs757894340 11q24.1 11 123606652G> T null G V 273 273 missense 0.012 benign 0.36 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1592246731 11q24.1 11 123606654T> G null S A 274 274 missense 0.0 benign 0.57 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs747509131 11q24.1 11 123606655C> T null S F 274 274 missense 0.301 benign 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs747509131 11q24.1 11 123606655C> A null S Y 274 274 missense 0.182 benign 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1447653328 11q24.1 11 123606658T> C null L P 275 275 missense 0.394 benign 0.35 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs149488546 11q24.1 11 123606664A> G null K R 277 277 0.000599 missense 0.007 benign 0.34 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs267602745 11q24.1 11 123606666G> A null E K 278 278 missense 0.236 benign 0.33 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1046775434 11q24.1 11 123606670T> C null L P 279 279 missense 0.753 possibly damaging 0.1 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1046775434 11q24.1 11 123606670T> G null L R 279 279 missense 0.599 possibly damaging 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375511617 11q24.1 11 123606672G> A null A T 280 280 missense 0.005 benign 0.68 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs191981781 cosmic curated [Cosmic]: thyroid cosmic_study:589 11q24.1 11 123606675A> G null I V 281 281 0.001797 missense 0.055 benign 0.48 tolerated 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114469707 11q24.1 11 123606682A> G null N S 283 283 0.001597 missense 0.0 benign 0.81 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114469707 11q24.1 11 123606682A> C null N T 283 283 0.001597 missense 0.06 benign 0.55 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs376872587 11q24.1 11 123606684A> C null I L 284 284 missense 0.003 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs376872587 11q24.1 11 123606684A> G null I V 284 284 missense 0.007 benign 0.57 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1322519595 11q24.1 11 123606689G> T null M I 285 285 missense 0.0 benign 0.22 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,gnomAD rs371265661 11q24.1 11 123606687A> G null M V 285 285 0.0002 missense 0.0 benign 0.3 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1403860607 11q24.1 11 123606690G> A null G R 286 286 missense 0.251 benign 0.29 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1451766272 11q24.1 11 123606693G> A null E K 287 287 missense 0.127 benign 0.27 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs774236612 11q24.1 11 123606700T> C null I T 289 289 missense 0.003 benign 0.72 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,TOPMed,gnomAD rs370508125 11q24.1 11 123606704G> T null E D 290 290 missense 0.003 benign 0.52 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs76756402 11q24.1 11 123606705A> C null M L 291 291 missense 0.0 benign 0.34 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs76756402 11q24.1 11 123606705A> G null M V 291 291 missense 0.0 benign 0.32 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1279173737 11q24.1 11 123606708A> T null I F 292 292 missense 0.119 benign 0.08 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs776432140 11q24.1 11 123606711G> A null A T 293 293 missense 0.001 benign 0.48 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1432159441 11q24.1 11 123606714C> T null P S 294 294 missense 0.959 probably damaging 0.07 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1261292885 11q24.1 11 123606717G> A null V M 295 295 missense 0.935 probably damaging 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs761575476 11q24.1 11 123606726C> T null P S 298 298 missense 0.941 probably damaging 0.38 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs764839388 11q24.1 11 123606730C> T null S L 299 299 missense 0.338 benign 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1258706185 11q24.1 11 123606739T> A null F Y 302 302 missense 0.761 possibly damaging 0.11 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1029451265 11q24.1 11 123606741A> G null N D 303 303 missense 0.755 possibly damaging 0.41 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs377539345 11q24.1 11 123606742A> T null N I 303 303 missense 0.847 possibly damaging 0.31 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs377539345 11q24.1 11 123606742A> G null N S 303 303 missense 0.511 possibly damaging 0.86 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1362832679 11q24.1 11 123606745A> C null D A 304 304 missense 0.999 probably damaging 0.1 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1472693993 11q24.1 11 123606746C> A null D E 304 304 missense 0.999 probably damaging 0.1 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1160778334 11q24.1 11 123606747A> G null N D 305 305 missense 0.998 probably damaging 0.45 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1426518441 11q24.1 11 123606748A> G null N S 305 305 missense 0.998 probably damaging 0.4 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs866068201 11q24.1 11 123606754A> G null D G 307 307 missense 0.874 possibly damaging 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1317231120 11q24.1 11 123606758C> G null I M 308 308 missense 0.436 benign 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1389438565 11q24.1 11 123606772G> A null S N 313 313 missense 0.759 possibly damaging 0.15 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs751049869 11q24.1 11 123606783G> A null D N 317 317 missense 0.314 benign 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs867480430 11q24.1 11 123606789C> A null H N 319 319 missense 0.855 possibly damaging 0.25 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs755577223 11q24.1 11 123606792G> A null D N 320 320 missense 0.924 probably damaging 0.07 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1183869073 11q24.1 11 123608661G> A null E K 323 323 missense 0.041 benign 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs200540342 11q24.1 11 123608664G> A null V I 324 324 missense 0.806 possibly damaging 0.13 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1160028716 11q24.1 11 123608667C> T null Q * 325 325 stop gained 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1339548414 11q24.1 11 123608668A> C null Q P 325 325 missense 0.791 possibly damaging 0.23 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373699394 11q24.1 11 123608677A> G null Y C 328 328 0.0002 missense 0.967 probably damaging 0.29 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373699394 11q24.1 11 123608677A> T null Y F 328 328 0.0002 missense 0.073 benign 0.64 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1468703173 11q24.1 11 123608679G> A null E K 329 329 missense 0.028 benign 0.47 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1450603005 11q24.1 11 123608695G> A null R Q 334 334 missense 0.796 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs748832223 11q24.1 11 123608694C> T null R W 334 334 missense 0.986 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1304266955 11q24.1 11 123608699G> C null Q H 335 335 missense 0.999 probably damaging 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs750631307 11q24.1 11 123608703G> A null V M 337 337 missense 0.014 benign 0.08 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs758559482 11q24.1 11 123608715T> C null F L 341 341 missense 0.024 benign 0.07 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs770386203 11q24.1 11 123608719A> G null N S 342 342 missense 0.003 benign 0.31 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1385913574 11q24.1 11 123608728T> C null V A 345 345 missense 0.997 probably damaging 0.64 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1262409324 cosmic curated [Cosmic]: large_intestine cosmic_study:376 11q24.1 11 123608727G> A null V M 345 345 missense 1.0 probably damaging 0.01 deleterious 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,gnomAD rs367844387 11q24.1 11 123608740A> G null Y C 349 349 missense 0.967 probably damaging 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs777552496 11q24.1 11 123608744C> A null D E 350 350 missense 0.168 benign 0.25 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1183079679 cosmic curated [Cosmic]: large_intestine cosmic_study:376 11q24.1 11 123608745C> A null L I 351 351 missense 0.999 probably damaging 0.26 tolerated 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes rs554684318 11q24.1 11 123608746T> G null L R 351 351 0.0002 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1176395644 11q24.1 11 123608751T> C null F L 353 353 missense 0.995 probably damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1426446805 11q24.1 11 123608754A> G null T A 354 354 missense 0.628 possibly damaging 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1416610584 11q24.1 11 123608757A> G null N D 355 355 missense 0.0 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs374919881 11q24.1 11 123608761C> T null S L 356 356 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1000145974 11q24.1 11 123608763C> T null P S 357 357 missense 0.236 benign 0.67 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs774227885 11q24.1 11 123608773G> A null R Q 360 360 missense 0.127 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs745517263 11q24.1 11 123608775G> A null D N 361 361 missense 0.999 probably damaging 0.17 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs745517263 11q24.1 11 123608775G> T null D Y 361 361 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1402522933 11q24.1 11 123608778T> A null F I 362 362 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs958828726 11q24.1 11 123608784G> A null E K 364 364 missense 0.998 probably damaging 0.23 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs760013778 11q24.1 11 123608787C> G null Q E 365 365 missense 0.599 possibly damaging 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1368239562 11q24.1 11 123608789G> T null Q H 365 365 missense 0.94 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1012745976 11q24.1 11 123608791G> A null R Q 366 366 missense 0.999 probably damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1024525756 11q24.1 11 123608793C> T null R C 367 367 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,TOPMed,gnomAD rs371994802 11q24.1 11 123608794G> A null R H 367 367 missense 0.999 probably damaging 0.38 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs771808457 11q24.1 11 123608797T> A null F Y 368 368 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1450598849 11q24.1 11 123609798T> C null I T 371 371 missense 0.138 benign 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs772568357 11q24.1 11 123609802C> G null I M 372 372 missense 0.336 benign 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs760097861 11q24.1 11 123609801T> A null I N 372 372 missense 0.251 benign 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1383706222 11q24.1 11 123609800A> G null I V 372 372 missense 0.001 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1162276287 11q24.1 11 123609807A> T null H L 374 374 missense 0.171 benign 0.46 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1162276287 11q24.1 11 123609807A> G null H R 374 374 missense 0.127 benign 0.51 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1316181066 11q24.1 11 123609810C> A null P Q 375 375 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1406577746 11q24.1 11 123609809C> T null P S 375 375 missense 0.999 probably damaging 0.1 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1435660703 11q24.1 11 123609814G> A null W * 376 376 stop gained 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1204307633 11q24.1 11 123609815A> T null K * 377 377 stop gained 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs918117659 11q24.1 11 123609816A> G null K R 377 377 missense 0.073 benign 0.3 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs776005482 11q24.1 11 123609821G> A null E K 379 379 missense 0.615 possibly damaging 0.07 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs757192032 11q24.1 11 123609826G> T null E D 380 380 missense 0.003 benign 0.39 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1284979934 11q24.1 11 123609830G> A null G R 382 382 missense 0.945 probably damaging 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs778881141 11q24.1 11 123609851C> A null L I 389 389 missense 0.615 possibly damaging 0.18 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1465758519 11q24.1 11 123609858C> T null T I 391 391 missense 0.999 probably damaging 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1211051190 11q24.1 11 123609860A> G null I V 392 392 missense 0.575 possibly damaging 0.12 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs771900117 11q24.1 11 123609864C> T null T I 393 393 missense 0.224 benign 0.07 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs771900117 11q24.1 11 123609864C> A null T N 393 393 missense 0.003 benign 0.13 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1592264224 11q24.1 11 123609863A> C null T P 393 393 missense 0.394 benign 0.93 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs774973587 11q24.1 11 123609866C> T null L F 394 394 missense 0.981 probably damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1592264296 11q24.1 11 123609873A> C null N T 396 396 missense 0.856 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs760967017 11q24.1 11 123609876C> T null P L 397 397 missense 1.0 probably damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs746597994 11q24.1 11 123609881G> A null A T 399 399 missense 0.782 possibly damaging 0.14 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs201009984 11q24.1 11 123609890A> C null T P 402 402 missense 0.007 benign 0.05 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1457769586 11q24.1 11 123609893G> A null A T 403 403 missense 0.92 probably damaging 0.08 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1161268135 11q24.1 11 123609897C> G null T S 404 404 missense 0.358 benign 0.6 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs764491640 11q24.1 11 123609899G> A null V I 405 405 missense 0.412 benign 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1334522808 11q24.1 11 123609903G> A null R K 406 406 missense 0.06 benign 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1297351943 11q24.1 11 123609909C> A null T K 408 408 missense 0.786 possibly damaging 0.11 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs774707387 11q24.1 11 123610209C> T null A V 414 414 missense 0.999 probably damaging 0.16 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1452688501 11q24.1 11 123610218A> G null E G 417 417 missense 0.999 probably damaging 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1329911488 11q24.1 11 123610221G> A null S N 418 418 missense 0.864 possibly damaging 0.16 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1379208489 11q24.1 11 123610232G> A null V M 422 422 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1261074275 11q24.1 11 123610244G> A null E K 426 426 missense 0.998 probably damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1191880391 11q24.1 11 123610247G> A null V I 427 427 missense 0.997 probably damaging 0.05 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1592266396 11q24.1 11 123610253A> C null T P 429 429 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs752871193 11q24.1 11 123610258C> G null H Q 430 430 missense 0.058 benign 0.68 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs542866239 11q24.1 11 123610259G> A null D N 431 431 0.0002 missense 0.999 probably damaging 0.13 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs765331397 11q24.1 11 123610262G> A null V M 432 432 missense 0.751 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10893053 11q24.1 11 123610273T> G null H Q 435 435 0.2418 missense 0.632 possibly damaging 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1387920256 11q24.1 11 123610272A> G null H R 435 435 missense 0.471 possibly damaging 0.08 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC rs758353236 11q24.1 11 123610281T> C null F S 438 438 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1325090049 11q24.1 11 123610283T> G null Y D 439 439 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1230075351 11q24.1 11 123610289A> G null I V 441 441 missense 0.005 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs779719653 11q24.1 11 123610302C> T null T M 445 445 missense 0.981 probably damaging 0.15 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs751330868 11q24.1 11 123610304C> A null L I 446 446 missense 0.792 possibly damaging 0.58 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1318330456 11q24.1 11 123610308C> T null T I 447 447 missense 0.68 possibly damaging 0.3 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1216696944 11q24.1 11 123610310C> T null R C 448 448 missense 0.999 probably damaging 0.17 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs573181030 11q24.1 11 123610311G> A null R H 448 448 0.0002 missense 0.999 probably damaging 0.56 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1301307776 11q24.1 11 123610317C> T null A V 450 450 missense 0.836 possibly damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs780877280 cosmic curated [Cosmic]: large_intestine cosmic_study:376 11q24.1 11 123610320G> A null R Q 451 451 missense 0.486 possibly damaging 0.03 deleterious 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1390495624 11q24.1 11 123610319C> T null R W 451 451 missense 0.943 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1368020418 11q24.1 11 123610325A> G null K E 453 453 missense 0.81 possibly damaging 0.08 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs755934019 11q24.1 11 123610329G> C null S T 454 454 missense 0.579 possibly damaging 0.44 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs747701660 11q24.1 11 123610332G> A null R Q 455 455 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1592278576 11q24.1 11 123612763T> G null V G 458 458 missense 0.857 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1348079401 11q24.1 11 123612762G> A null V I 458 458 missense 0.028 benign 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1565465448 11q24.1 11 123612768A> T null T S 460 460 missense 0.998 probably damaging 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1331085646 11q24.1 11 123612777C> T null R C 463 463 missense 0.969 probably damaging 0.22 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs748744678 11q24.1 11 123612778G> A null R H 463 463 missense 0.955 probably damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs748744678 11q24.1 11 123612778G> T null R L 463 463 missense 0.854 possibly damaging 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs969160143 11q24.1 11 123612783C> T null R * 465 465 stop gained 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs969160143 11q24.1 11 123612783C> G null R G 465 465 missense 0.716 possibly damaging 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs779442588 11q24.1 11 123612784G> A null R Q 465 465 missense 0.704 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1249789698 11q24.1 11 123612790A> G null Q R 467 467 missense 0.995 probably damaging 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1272715913 11q24.1 11 123612799G> A null G E 470 470 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1247803361 11q24.1 11 123612811C> T null T M 474 474 missense 0.858 possibly damaging 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC rs747239385 11q24.1 11 123612819G> A null E K 477 477 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs776874803 11q24.1 11 123612823A> G null K R 478 478 missense 0.998 probably damaging 0.1 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs761933797 11q24.1 11 123612846G> A null D N 486 486 missense 0.836 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs766270069 11q24.1 11 123612851C> A null Y * 487 487 stop gained 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1329532401 11q24.1 11 123612849T> C null Y H 487 487 missense 0.956 probably damaging 0.08 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs774345801 11q24.1 11 123612855C> T null R C 489 489 missense 0.944 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs538509009 cosmic curated [Cosmic]: large_intestine cosmic_study:376 11q24.1 11 123612856G> A null R H 489 489 0.000399 missense 0.062 benign 0.24 tolerated 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs773095404 11q24.1 11 123613455A> G null E G 492 492 missense 0.856 possibly damaging 0.05 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1350417509 11q24.1 11 123613458G> A null S N 493 493 missense 0.001 benign 0.51 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,gnomAD rs374304588 cosmic curated [Cosmic]: endometrium cosmic_study:419 11q24.1 11 123613460G> A null E K 494 494 missense 0.829 possibly damaging 0.02 deleterious 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs62641672 11q24.1 11 123613467C> G null A G 496 496 missense 0.07 benign 0.27 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371958694 11q24.1 11 123613466G> A null A T 496 496 0.0002 missense 0.001 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369825461 11q24.1 11 123613473C> T null T M 498 498 missense 0.01 benign 0.17 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs373054264 11q24.1 11 123613496A> T null M L 506 506 missense 0.0 benign 0.57 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1247862121 11q24.1 11 123613499C> A null H N 507 507 missense 0.855 possibly damaging 0.35 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs749861438 11q24.1 11 123613505C> A null Q K 509 509 missense 0.992 probably damaging 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs758997685 11q24.1 11 123613509C> G null S C 510 510 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1434749828 11q24.1 11 123613515A> C null K T 512 512 missense 0.72 possibly damaging 0.08 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs780686154 11q24.1 11 123613519G> T null E D 513 513 missense 0.017 benign 0.53 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1190590583 11q24.1 11 123613530A> G null K R 517 517 missense 0.998 probably damaging 0.38 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs946321091 11q24.1 11 123613535A> G null T A 519 519 missense 0.0 benign 0.49 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1202535829 11q24.1 11 123613536C> T null T I 519 519 missense 0.03 benign 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs946321091 11q24.1 11 123613535A> T null T S 519 519 missense 0.0 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs769863986 11q24.1 11 123613538A> G null T A 520 520 missense 0.003 benign 0.98 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199604534 11q24.1 11 123613539C> T null T M 520 520 0.000399 missense 0.748 possibly damaging 0.12 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,gnomAD rs368784935 cosmic curated [Cosmic]: large_intestine cosmic_study:376 11q24.1 11 123613545G> A null R Q 522 522 missense 0.999 probably damaging 0.04 deleterious 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs772035485 11q24.1 11 123613544C> T null R W 522 522 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1314374755 11q24.1 11 123613548G> A null R K 523 523 missense 0.995 probably damaging 0.09 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1357437283 cosmic curated [Cosmic]: endometrium cosmic_study:419 11q24.1 11 123613556C> T null R C 526 526 missense 0.999 probably damaging 0.02 deleterious 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs768451724 cosmic curated [Cosmic]: large_intestine cosmic_study:375 11q24.1 11 123613557G> A null R H 526 526 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs768451724 11q24.1 11 123613557G> C null R P 526 526 missense 1.0 probably damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs894915963 11q24.1 11 123613563A> G null H R 528 528 missense 0.791 possibly damaging 0.36 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs776221454 11q24.1 11 123613565G> A null A T 529 529 missense 0.003 benign 0.37 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs749999499 11q24.1 11 123613569A> T null H L 530 530 missense 0.826 possibly damaging 0.3 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs764749144 11q24.1 11 123613568C> T null H Y 530 530 missense 0.855 possibly damaging 0.33 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs762523319 11q24.1 11 123613575G> A null R Q 532 532 missense 0.999 probably damaging 0.07 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1257670898 11q24.1 11 123613583C> A null H N 535 535 missense 0.997 probably damaging 0.1 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1179975438 11q24.1 11 123613586C> G null L V 536 536 missense 0.159 benign 0.5 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs755488531 11q24.1 11 123613595G> T null V L 539 539 missense 0.412 benign 0.72 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs755488531 11q24.1 11 123613595G> A null V M 539 539 missense 0.93 probably damaging 0.24 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1399794477 11q24.1 11 123613599T> G null M R 540 540 missense 0.138 benign 0.58 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1160090336 11q24.1 11 123613598A> G null M V 540 540 missense 0.0 benign 0.42 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,TOPMed rs373889123 11q24.1 11 123613601A> G null S G 541 541 missense 0.995 probably damaging 0.29 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1414178795 11q24.1 11 123613605C> T null P L 542 542 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1414178795 11q24.1 11 123613605C> G null P R 542 542 missense 1.0 probably damaging 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,gnomAD rs557839467 11q24.1 11 123613607G> T null V F 543 543 0.0002 missense 0.999 probably damaging 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,gnomAD rs557839467 11q24.1 11 123613607G> C null V L 543 543 0.0002 missense 0.997 probably damaging 0.36 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1452676344 11q24.1 11 123613610A> G null T A 544 544 missense 0.998 probably damaging 0.22 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs757313912 11q24.1 11 123613614C> T null T M 545 545 missense 1.0 probably damaging 0.27 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs912435884 11q24.1 11 123613622G> A null D N 548 548 missense 0.999 probably damaging 0.21 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs912435884 11q24.1 11 123613622G> T null D Y 548 548 missense 1.0 probably damaging 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs778905988 11q24.1 11 123613630T> A null D E 550 550 missense 0.003 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1484430156 11q24.1 11 123613628G> T null D Y 550 550 missense 0.809 possibly damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs575823580 11q24.1 11 123613632T> A null V E 551 551 0.0002 missense 0.301 benign 0.79 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1280558584 11q24.1 11 123613635G> A null G D 552 552 missense 0.339 benign 0.22 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1199568658 11q24.1 11 123613634G> A null G S 552 552 missense 0.182 benign 0.41 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs373969484 11q24.1 11 123613651T> G null H Q 557 557 missense 0.361 benign 0.17 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1202425504 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:24241536,cosmic_study:571 11q24.1 11 123613652G> A null V M 558 558 missense 0.771 possibly damaging 0.15 tolerated 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs377530501 11q24.1 11 123614745G> T null G V 560 560 missense 0.844 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs773086921 11q24.1 11 123614760G> A null R Q 565 565 missense 0.478 possibly damaging 0.05 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs769465102 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 11q24.1 11 123614759C> T null R W 565 565 missense 0.88 possibly damaging 0.0 deleterious 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs748956557 11q24.1 11 123614764T> A null H Q 566 566 missense 0.602 possibly damaging 0.29 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs370988688 11q24.1 11 123614769C> T null P L 568 568 missense 0.43 benign 0.21 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1214237041 11q24.1 11 123614773G> C null E D 569 569 missense 0.556 possibly damaging 0.23 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs200711609 11q24.1 11 123614771G> A null E K 569 569 missense 0.277 benign 0.16 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1565470137 11q24.1 11 123614775A> G null D G 570 570 missense 0.0 benign 0.39 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375570291 11q24.1 11 123614774G> A null D N 570 570 missense 0.127 benign 0.52 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375570291 11q24.1 11 123614774G> T null D Y 570 570 missense 0.575 possibly damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs761185461 11q24.1 11 123614778C> T null T I 571 571 missense 0.0 benign 0.21 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs754161430 11q24.1 11 123614781C> T null P L 572 572 missense 0.197 benign 0.1 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs754161430 11q24.1 11 123614781C> G null P R 572 572 missense 0.255 benign 0.24 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1592288801 11q24.1 11 123614780C> T null P S 572 572 missense 0.012 benign 0.26 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs757493522 11q24.1 11 123614783A> G null N D 573 573 missense 0.0 benign 0.28 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs534553453 11q24.1 11 123614786G> T null G C 574 574 0.002396 missense 0.877 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs534553453 11q24.1 11 123614786G> C null G R 574 574 0.002396 missense 0.041 benign 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs534553453 11q24.1 11 123614786G> A null G S 574 574 0.002396 missense 0.028 benign 0.07 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs781251456 11q24.1 11 123614792C> T null H Y 576 576 missense 0.478 possibly damaging 0.07 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs201812830 11q24.1 11 123614799A> G null Q R 578 578 missense 0.197 benign 0.57 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374118769 11q24.1 11 123614803C> G null S R 579 579 0.000399 missense 0.056 benign 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs770363124 11q24.1 11 123614804G> A null V M 580 580 missense 0.086 benign 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1163327613 11q24.1 11 123614817T> C null L P 584 584 missense 0.986 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1310036362 11q24.1 11 123614825A> G null I V 587 587 missense 0.358 benign 0.52 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs778697361 11q24.1 11 123614831T> A null C S 589 589 missense 0.038 benign 0.22 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs745453238 11q24.1 11 123614834G> A null V I 590 590 missense 0.301 benign 0.38 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1443449023 11q24.1 11 123618697G> A null V M 592 592 missense 0.867 possibly damaging 0.07 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375428225 11q24.1 11 123618706G> T null V F 595 595 0.0002 missense 0.962 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375428225 11q24.1 11 123618706G> A null V I 595 595 0.0002 missense 0.163 benign 0.21 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs746558109 11q24.1 11 123618711C> G null I M 596 596 missense 0.023 benign 0.16 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1213612735 11q24.1 11 123618717C> A null N K 598 598 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs780611834 11q24.1 11 123618718A> G null M V 599 599 missense 0.0 benign 0.54 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1311437280 11q24.1 11 123618723G> A null M I 600 600 missense 0.007 benign 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1006465006 11q24.1 11 123618730T> C null Y H 603 603 missense 0.899 possibly damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs770234763 11q24.1 11 123618734A> G null K R 604 604 missense 0.784 possibly damaging 0.44 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1291145842 11q24.1 11 123618736C> T null L F 605 605 missense 0.867 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs773476425 11q24.1 11 123618744G> A null M I 607 607 missense 0.014 benign 0.11 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1186594571 11q24.1 11 123618742A> G null M V 607 607 missense 0.0 benign 0.25 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1592310591 11q24.1 11 123618754A> G null T A 611 611 missense 0.009 benign 0.46 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs775623707 11q24.1 11 123618755C> T null T I 611 611 missense 0.203 benign 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs775623707 11q24.1 11 123618755C> A null T N 611 611 missense 0.415 benign 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs775623707 11q24.1 11 123618755C> G null T S 611 611 missense 0.026 benign 0.15 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs549560391 11q24.1 11 123618758C> T null T M 612 612 missense 0.938 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs760937431 11q24.1 11 123618760C> T null Q * 613 613 stop gained 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1395001592 11q24.1 11 123618762G> T null Q H 613 613 missense 0.967 probably damaging 0.67 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1462850443 11q24.1 11 123618764C> G null T S 614 614 missense 0.031 benign 0.37 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1326089661 11q24.1 11 123618769A> G null T A 616 616 missense 0.511 possibly damaging 0.34 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1431670868 11q24.1 11 123618777G> A null W * 618 618 stop gained 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1377048609 11q24.1 11 123618782G> A null G D 620 620 missense 0.969 probably damaging 0.32 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1272069804 11q24.1 11 123618781G> A null G S 620 620 missense 0.534 possibly damaging 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1478030113 11q24.1 11 123618788G> A null R K 622 622 missense 0.389 benign 0.34 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs947730358 11q24.1 11 123618789G> C null R S 622 622 missense 0.575 possibly damaging 0.74 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs752169349 11q24.1 11 123618795A> C null Q H 624 624 missense 0.011 benign 0.22 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs774631746 11q24.1 11 123618799A> G null R G 626 626 missense 0.209 benign 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs774631746 11q24.1 11 123618799A> T null R W 626 626 missense 0.029 benign 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs766011731 11q24.1 11 123619111C> T null P S 628 628 missense 0.999 probably damaging 0.05 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1377336512 11q24.1 11 123619122G> T null Q H 631 631 missense 0.888 possibly damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1408586274 11q24.1 11 123619124C> A null T K 632 632 missense 0.182 benign 0.58 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1328730446 11q24.1 11 123619131G> A null W * 634 634 stop gained 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1336833794 11q24.1 11 123619132G> A null A T 635 635 missense 0.073 benign 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs867595369 11q24.1 11 123619135C> A null Q K 636 636 missense 0.13 benign 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148264959 11q24.1 11 123619148C> T null S F 640 640 0.000599 missense 0.999 probably damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs747612717 11q24.1 11 123619154A> T null Q L 642 642 missense 0.996 probably damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs747612717 11q24.1 11 123619154A> G null Q R 642 642 missense 0.995 probably damaging 0.4 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1193530640 11q24.1 11 123619160A> G null Y C 644 644 missense 0.967 probably damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1565477915 11q24.1 11 123619162C> A null H N 645 645 missense 0.279 benign 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs370259530 11q24.1 11 123619165G> A null D N 646 646 missense 0.167 benign 0.17 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1565478028 11q24.1 11 123619205C> T null S L 659 659 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs969001195 11q24.1 11 123619211T> C null M T 661 661 missense 0.003 benign 0.65 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1365651947 11q24.1 11 123622508G> A null M I 666 666 missense 0.015 benign 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1452238751 11q24.1 11 123622506A> G null M V 666 666 missense 0.001 benign 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs981266512 11q24.1 11 123622510A> G null K R 667 667 missense 0.009 benign 0.25 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1451461778 11q24.1 11 123622513A> G null D G 668 668 missense 0.14 benign 0.34 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs538908520 11q24.1 11 123622516C> A null S * 669 669 0.0002 stop gained 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs538908520 11q24.1 11 123622516C> T null S L 669 669 0.0002 missense 0.397 benign 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs780652358 11q24.1 11 123622521A> G null I V 671 671 missense 0.0 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1160222847 11q24.1 11 123622525A> T null N I 672 672 missense 0.356 benign 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1382909997 11q24.1 11 123622526C> A null N K 672 672 missense 0.137 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs4083122 11q24.1 11 123622527C> T null L F 673 673 missense 0.735 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs866062141 11q24.1 11 123622530C> A null Q K 674 674 missense 0.07 benign 0.07 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1162502089 11q24.1 11 123622531A> G null Q R 674 674 missense 0.185 benign 0.08 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs772471280 11q24.1 11 123622537G> A null G D 676 676 missense 0.526 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1179974608 11q24.1 11 123622536G> A null G S 676 676 missense 0.037 benign 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1374311060 11q24.1 11 123622541C> G null I M 677 677 missense 0.667 possibly damaging 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1415377499 11q24.1 11 123622546C> T null S F 679 679 missense 0.356 benign 0.42 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs780409933 11q24.1 11 123622548C> T null R C 680 680 missense 0.758 possibly damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs780409933 11q24.1 11 123622548C> G null R G 680 680 missense 0.369 benign 0.05 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs747151599 11q24.1 11 123622549G> A null R H 680 680 missense 0.605 possibly damaging 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368223750 11q24.1 11 123622558C> A null T K 683 683 0.000599 missense 0.035 benign 0.92 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368223750 11q24.1 11 123622558C> T null T M 683 683 0.000599 missense 0.263 benign 0.11 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368223750 11q24.1 11 123622558C> G null T R 683 683 0.000599 missense 0.005 benign 0.53 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs370949646 11q24.1 11 123622561C> T null S L 684 684 missense 0.005 benign 0.17 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1026118502 11q24.1 11 123622566A> G null S G 686 686 missense 0.087 benign 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs986113458 11q24.1 11 123622567G> A null S N 686 686 missense 0.127 benign 0.09 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs911438812 11q24.1 11 123622568T> A null S R 686 686 missense 0.007 benign 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs774167637 11q24.1 11 123622569G> A null E K 687 687 missense 0.341 benign 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1480557545 11q24.1 11 123622579G> T null R M 690 690 missense 0.59 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs545662974 11q24.1 11 123622582A> G null N S 691 691 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1253101591 11q24.1 11 123622584C> T null R C 692 692 missense 0.501 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs901617580 11q24.1 11 123622585G> A null R H 692 692 missense 0.003 benign 0.09 tolerated - low confidence 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs901617580 11q24.1 11 123622585G> T null R L 692 692 missense 0.003 benign 0.03 deleterious - low confidence 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs951873344 11q24.1 11 123622588A> G null Y C 693 693 missense 0.804 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1434836714 11q24.1 11 123622595A> C null * C 695 695 stop lost 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs757875254 2q37.3 2 241266860C> T null V I 4 4 missense 0.934 probably damaging 0.03 deleterious - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs200742521 2q37.3 2 241266856G> T null A E 5 5 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs759403524 2q37.3 2 241266854C> T null V I 6 6 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1456326486 2q37.3 2 241266829T> A null E V 14 14 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs986847427 2q37.3 2 241266821T> C null S G 17 17 missense 0.941 probably damaging 0.05 deleterious - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs753730202 2q37.3 2 241266812C> T null V I 20 20 missense 0.003 benign 0.28 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs766397299 2q37.3 2 241266808G> A null P L 21 21 missense 0.135 benign 0.25 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1400305114 2q37.3 2 241264602G> T null A D 27 27 missense 0.011 benign 0.07 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1212464794 2q37.3 2 241264603C> A null A S 27 27 missense 0.127 benign 0.29 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs144379709 2q37.3 2 241264600T> C null T A 28 28 0.002796 missense 0.001 benign 0.91 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144379709 2q37.3 2 241264600T> G null T P 28 28 0.002796 missense 0.394 benign 0.28 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369014439 2q37.3 2 241264596A> G null L P 29 29 missense 0.851 possibly damaging 0.09 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs541078735 2q37.3 2 241264597G> C null L V 29 29 missense 0.018 benign 0.38 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs750320032 2q37.3 2 241264592A> T null N K 30 30 missense 0.038 benign 0.83 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1191024009 2q37.3 2 241264593T> G null N T 30 30 missense 0.001 benign 0.68 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1463413559 2q37.3 2 241264588C> T null E K 32 32 missense 0.547 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs761945807 2q37.3 2 241264584T> C null E G 33 33 missense 0.127 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs767410138 2q37.3 2 241264585C> T null E K 33 33 missense 0.127 benign 0.16 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559521759 2q37.3 2 241264579T> C null S G 35 35 missense 0.0 benign 0.35 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1574964724 2q37.3 2 241264575T> G null D A 36 36 missense 0.644 possibly damaging 0.45 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs768840264 2q37.3 2 241264576C> T null D N 36 36 missense 0.847 possibly damaging 0.84 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs141167515 2q37.3 2 241264572G> A null P L 37 37 missense 0.192 benign 0.33 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1265620584 2q37.3 2 241264563T> C null Y C 40 40 missense 0.993 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs770075568 2q37.3 2 241264560T> C null K R 41 41 missense 0.352 benign 0.37 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1356903199 2q37.3 2 241264555C> T null A T 43 43 missense 0.918 probably damaging 0.46 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1329961135 2q37.3 2 241264524C> A null C F 53 53 missense 0.308 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs747673112 2q37.3 2 241264512G> A null A V 57 57 missense 0.011 benign 0.28 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11891776 pubmed:1318310,pubmed:14702039,pubmed:15489334,pubmed:21269460 2q37.3 2 241264501C> A null S A 61 61 0 missense 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11891776 2q37.3 2 241264501C> G null A P 61 61 0 missense 0.532 possibly damaging 0.28 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11891776 2q37.3 2 241264501C> T null A T 61 61 0 missense 0.007 benign 0.49 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs182727333 2q37.3 2 241264495C> A null A S 63 63 0.000998 missense 0.056 benign 0.4 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1456699162 2q37.3 2 241264491C> G null W S 64 64 missense 1.0 probably damaging 0.19 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1375079473 2q37.3 2 241264488C> T null G E 65 65 missense 0.037 benign 0.8 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1375079473 2q37.3 2 241264488C> A null G V 65 65 missense 0.022 benign 0.29 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs757187077 2q37.3 2 241264483T> C null K E 67 67 missense 0.467 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1283529258 2q37.3 2 241264478G> C null I M 68 68 missense 0.103 benign 0.72 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs764118724 2q37.3 2 241264476C> T null R Q 69 69 missense 0.065 benign 0.18 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1303060063 2q37.3 2 241264474G> A null P S 70 70 missense 0.09 benign 0.46 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs763024592 2q37.3 2 241264471T> C null I V 71 71 missense 0.019 benign 0.89 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1255155726 2q37.3 2 241264465C> A null A S 73 73 missense 0.006 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1221094501 2q37.3 2 241262857T> C null K E 102 102 missense 0.614 possibly damaging 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP rs140608605 2q37.3 2 241262848G> T null L I 105 105 missense 0.039 benign 0.22 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP rs140608605 2q37.3 2 241262848G> C null L V 105 105 missense 0.039 benign 0.33 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1274287208 2q37.3 2 241262839T> G null M L 108 108 missense 0.835 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs761118075 2q37.3 2 241262818A> T null L M 115 115 missense 0.57 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1490898113 2q37.3 2 241262795G> T null D E 122 122 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1356351149 2q37.3 2 241262794G> T null Q K 123 123 missense 0.219 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs762517514 2q37.3 2 241262775A> G null V A 129 129 missense 0.918 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1475760245 2q37.3 2 241262759A> T null D E 134 134 missense 0.009 benign 0.63 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs745470341 2q37.3 2 241262761C> G null D H 134 134 missense 0.736 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs745470341 2q37.3 2 241262761C> T null D N 134 134 missense 0.415 benign 0.35 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1169746510 2q37.3 2 241262757G> T null A D 135 135 missense 0.03 benign 0.5 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs780901435 2q37.3 2 241262751A> G null M T 137 137 missense 0.005 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1405298290 2q37.3 2 241262733A> G null I T 143 143 missense 0.018 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs531962779 2q37.3 2 241262734T> C null I V 143 143 0.0002 missense 0.006 benign 0.12 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1473316822 cosmic curated [Cosmic]: breast cosmic_study:414 2q37.3 2 241262725T> C null R G 146 146 missense 0.003 benign 0.23 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1412587582 2q37.3 2 241262719G> T null Q K 148 148 missense 0.607 possibly damaging 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1367918749 2q37.3 2 241262712T> G null Q P 150 150 missense 0.723 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs780105002 2q37.3 2 241256802G> A null S L 152 152 missense 0.192 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs750691998 2q37.3 2 241256796G> A null T I 154 154 missense 0.053 benign 0.24 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs756450726 2q37.3 2 241256797T> A null T S 154 154 missense 0.013 benign 0.49 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1008430478 2q37.3 2 241256790G> C null A G 156 156 missense 0.0 benign 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1350485384 2q37.3 2 241256791C> T null A T 156 156 missense 0.001 benign 0.5 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC rs148487749 2q37.3 2 241256788T> C null I V 157 157 missense 0.195 benign 0.18 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1411286729 2q37.3 2 241256781T> C null K R 159 159 missense 0.654 possibly damaging 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1451517942 2q37.3 2 241256775T> C null H R 161 161 missense 0.238 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1248964755 2q37.3 2 241256744C> G null E D 171 171 missense 0.669 possibly damaging 0.26 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1248964755 2q37.3 2 241256744C> A null E D 171 171 missense 0.669 possibly damaging 0.26 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1226199057 2q37.3 2 241256732G> C null D E 175 175 missense 0.005 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs764717873 2q37.3 2 241256699G> C null I M 186 186 missense 0.729 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1051912982 2q37.3 2 241256695G> A null R C 188 188 missense 0.189 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1289991895 2q37.3 2 241256694C> T null R H 188 188 missense 0.919 probably damaging 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs758962394 2q37.3 2 241256691G> A null P L 189 189 missense 0.06 benign 0.27 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs61757694 2q37.3 2 241256683G> C null P A 192 192 missense 0.0 benign 0.52 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs772856476 2q37.3 2 241256682G> T null P H 192 192 missense 0.357 benign 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs61757694 2q37.3 2 241256683G> A null P S 192 192 missense 0.001 benign 0.55 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs61757694 2q37.3 2 241256683G> T null P T 192 192 missense 0.001 benign 0.32 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs771800582 2q37.3 2 241256677T> C null N D 194 194 missense 0.009 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1217285528 2q37.3 2 241256674G> C null Q E 195 195 missense 0.01 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1348085599 2q37.3 2 241256641C> T null E K 206 206 missense 0.134 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs774154606 2q37.3 2 241256632G> A null R C 209 209 missense 0.202 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP rs371457818 2q37.3 2 241256631C> T null R H 209 209 missense 0.073 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1390987420 2q37.3 2 241256628T> C null H R 210 210 missense 0.931 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,gnomAD rs376881661 2q37.3 2 241256623C> T null V I 212 212 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1191854801 2q37.3 2 241256619A> G null L S 213 213 missense 0.258 benign 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs746016337 2q37.3 2 241256613A> G null I T 215 215 missense 0.749 possibly damaging 0.16 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1267437924 2q37.3 2 241256614T> C null I V 215 215 missense 0.55 possibly damaging 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs777752687 cosmic curated [Cosmic]: large_intestine cosmic_study:375 2q37.3 2 241256605C> T null E K 218 218 missense 0.968 probably damaging 0.07 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs376021997 2q37.3 2 241256395T> C null K R 221 221 missense 0.991 probably damaging 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs556914078 2q37.3 2 241256393G> A null R C 222 222 0.0002 missense 0.888 possibly damaging 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs757592730 2q37.3 2 241256392C> T null R H 222 222 missense 0.049 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs200585028 2q37.3 2 241256387C> T null V M 224 224 0.0002 missense 0.312 benign 0.26 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559510228 2q37.3 2 241256382C> G null E D 225 225 missense 0.991 probably damaging 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1216610110 2q37.3 2 241256380C> G null R T 226 226 missense 0.666 possibly damaging 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs7572799 2q37.3 2 241256372C> T null V I 229 229 0.000998 missense 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs7572799 2q37.3 2 241256372C> A null V L 229 229 0.000998 missense 0.031 benign 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs755621726 2q37.3 2 241256363C> G null A P 232 232 missense 0.03 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs755621726 2q37.3 2 241256363C> A null A S 232 232 missense 0.127 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1400002014 2q37.3 2 241256362G> A null A V 232 232 missense 0.003 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1256417729 2q37.3 2 241256351A> T null F I 236 236 missense 0.969 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,gnomAD rs375276065 2q37.3 2 241256345C> T null A T 238 238 missense 0.062 benign 0.48 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1193459074 2q37.3 2 241256333T> C null N D 242 242 missense 0.17 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148554464 2q37.3 2 241256316C> G null E D 247 247 0.000399 missense 0.2 benign 0.22 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs754784308 2q37.3 2 241256318C> T null E K 247 247 missense 0.096 benign 0.6 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs775919823 2q37.3 2 241256313G> C null I M 248 248 missense 0.167 benign 0.25 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs566982506 2q37.3 2 241256315T> C null I V 248 248 0.0002 missense 0.253 benign 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs145890016 2q37.3 2 241256304C> G null E D 251 251 0.00619 missense 0.012 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1380894489 2q37.3 2 241256297T> C null T A 254 254 missense 0.001 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs772471761 cosmic curated [Cosmic]: endometrium cosmic_study:419 2q37.3 2 241256294G> A null R C 255 255 missense 0.988 probably damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1384832289 cosmic curated [Cosmic]: large_intestine pubmed:22810696,pubmed:23856246,cosmic_study:376,cosmic_study:504 2q37.3 2 241256293C> T null R H 255 255 missense 0.721 possibly damaging 0.08 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs772471761 2q37.3 2 241256294G> T null R S 255 255 missense 0.914 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs910873549 2q37.3 2 241256285T> C null I V 258 258 missense 0.086 benign 0.48 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs201285919 2q37.3 2 241256278G> A null P L 260 260 0.0002 missense 0.999 probably damaging 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs201285919 2q37.3 2 241256278G> T null P Q 260 260 0.0002 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs779366383 2q37.3 2 241256276G> A null P S 261 261 missense 0.13 benign 0.22 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1442356090 2q37.3 2 241256273T> C null S G 262 262 missense 0.162 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs755531759 2q37.3 2 241256272C> G null S T 262 262 missense 0.877 possibly damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs199760155 2q37.3 2 241256270C> T null V M 263 263 missense 0.803 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1019959681 2q37.3 2 241256263C> T null R Q 265 265 missense 0.017 benign 0.16 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs756722367 2q37.3 2 241256264G> A null R W 265 265 missense 0.721 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1264595005 2q37.3 2 241256261T> C null T A 266 266 missense 0.135 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs763710691 2q37.3 2 241256255T> C null I V 268 268 missense 0.822 possibly damaging 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs762803485 2q37.3 2 241256252C> T null V I 269 269 missense 0.623 possibly damaging 0.32 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1218813713 2q37.3 2 241256246T> C null T A 271 271 missense 0.012 benign 0.45 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs752578678 2q37.3 2 241256238C> G null E D 273 273 missense 0.278 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs956892676 cosmic curated [Cosmic]: breast cosmic_study:414 2q37.3 2 241256233T> C null E G 275 275 missense 0.169 benign 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,TOPMed rs369501121 2q37.3 2 241256231G> A null Q * 276 276 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs759507598 2q37.3 2 241256224G> A null A V 278 278 missense 0.461 possibly damaging 0.28 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1258620936 2q37.3 2 241256219C> A null A S 280 280 missense 0.918 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs766108090 2q37.3 2 241256210G> A null R C 283 283 missense 0.013 benign 0.18 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1392123829 cosmic curated [Cosmic]: lung cosmic_study:417 2q37.3 2 241256209C> T null R H 283 283 missense 0.417 benign 0.06 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1574936764 2q37.3 2 241256200T> A null K M 286 286 missense 0.287 benign 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1423168686 2q37.3 2 241256184C> A null K N 291 291 missense 0.972 probably damaging 0.14 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1271212594 2q37.3 2 241255575C> G null K N 293 293 missense 0.082 benign 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1574934588 2q37.3 2 241255570G> A null T I 295 295 missense 0.288 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs774557611 2q37.3 2 241255565T> C null T A 297 297 missense 0.615 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1345871483 2q37.3 2 241255564G> C null T S 297 297 missense 0.17 benign 0.2 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1262602197 2q37.3 2 241255562T> C null I V 298 298 missense 0.035 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1352895994 2q37.3 2 241255546T> C null K R 303 303 missense 0.012 benign 0.48 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs768946845 2q37.3 2 241255540G> C null S C 305 305 missense 0.354 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs768946845 2q37.3 2 241255540G> A null S F 305 305 missense 0.982 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs145139653 2q37.3 2 241255510C> G null G A 315 315 missense 0.426 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1028361939 cosmic curated [Cosmic]: upper_aerodigestive_tract pubmed:24292195,cosmic_study:563 2q37.3 2 241255504G> T null S * 317 317 missense 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs916729106 2q37.3 2 241255483C> T null R K 324 324 missense 0.0 benign 0.87 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs746504056 2q37.3 2 241255471G> C null S C 328 328 missense 0.987 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs556038051 2q37.3 2 241255469C> T null V I 329 329 0.000399 missense 0.88 possibly damaging 0.14 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs747745784 2q37.3 2 241255463T> C null I V 331 331 missense 0.023 benign 0.65 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs145626561 2q37.3 2 241255456G> T null P H 333 333 missense 0.266 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1417592410 2q37.3 2 241255450T> C null D G 335 335 missense 0.779 possibly damaging 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1468450061 2q37.3 2 241255444A> T null I N 337 337 missense 0.0 benign 0.53 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1222715616 2q37.3 2 241255430T> C null I V 342 342 missense 0.09 benign 0.73 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1231378912 cosmic curated [Cosmic]: endometrium cosmic_study:419 2q37.3 2 241255424G> A null R * 344 344 missense 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1167605599 2q37.3 2 241255423C> A null R L 344 344 missense 0.919 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1167605599 2q37.3 2 241255423C> T null R Q 344 344 missense 0.998 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs753729962 2q37.3 2 241255418C> T null E K 346 346 missense 0.988 probably damaging 0.12 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1242565449 2q37.3 2 241255415G> C null P A 347 347 missense 0.343 benign 0.18 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1196986399 2q37.3 2 241255409T> C null K E 349 349 missense 0.835 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs755960637 2q37.3 2 241255407C> G null K N 349 349 missense 0.749 possibly damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs750410025 2q37.3 2 241255398C> G null Q H 352 352 missense 0.211 benign 0.16 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs761890384 2q37.3 2 241255381T> C null Y C 358 358 missense 0.996 probably damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1490281928 2q37.3 2 241255379C> T null A T 359 359 missense 0.295 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1223649745 2q37.3 2 241255154T> C null N S 362 362 missense 0.183 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs931675738 2q37.3 2 241255148A> G null F S 364 364 missense 0.009 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1335040082 2q37.3 2 241255142A> G null V A 366 366 missense 0.219 benign 0.33 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs201275944 2q37.3 2 241255143C> T null V I 366 366 0.000399 missense 0.023 benign 0.43 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1382121364 2q37.3 2 241255140A> C null S A 367 367 missense 0.001 benign 0.92 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs566762728 2q37.3 2 241255139G> C null S C 367 367 0.0002 missense 0.673 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs566762728 2q37.3 2 241255139G> A null S F 367 367 0.0002 missense 0.503 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs918799841 2q37.3 2 241255136G> C null S C 368 368 missense 0.003 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs745739712 cosmic curated [Cosmic]: endometrium cosmic_study:419 2q37.3 2 241255131C> T null A T 370 370 missense 0.001 benign 0.59 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1275433961 2q37.3 2 241255128C> G null A P 371 371 missense 0.984 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1275433961 2q37.3 2 241255128C> T null A T 371 371 missense 0.249 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147572258 2q37.3 2 241255125G> C null P A 372 372 0.0002 missense 0.919 probably damaging 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1210201866 2q37.3 2 241255112T> C null H R 376 376 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1431820924 2q37.3 2 241255091T> C null K R 383 383 missense 0.108 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs780063807 2q37.3 2 241255084C> A null Q H 385 385 missense 0.172 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs777790935 2q37.3 2 241255073T> C null K R 389 389 missense 0.012 benign 0.39 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs777790935 2q37.3 2 241255073T> G null K T 389 389 missense 0.322 benign 0.25 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs758477634 2q37.3 2 241255071T> C null I V 390 390 missense 0.011 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs752851077 2q37.3 2 241255062G> T null Q K 393 393 missense 0.006 benign 0.14 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1200856333 2q37.3 2 241255059T> G null M L 394 394 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs765562077 2q37.3 2 241255056G> A null P S 395 395 missense 0.377 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1267158668 2q37.3 2 241255053T> C null K E 396 396 missense 0.292 benign 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1321295286 2q37.3 2 241253496A> C null V G 397 397 missense 0.961 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1290083060 2q37.3 2 241253497C> T null V I 397 397 missense 0.307 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs940546201 2q37.3 2 241253491T> C null I V 399 399 missense 0.101 benign 0.72 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559506203 2q37.3 2 241253476C> T null G S 404 404 missense 0.748 possibly damaging 0.12 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs756565008 2q37.3 2 241253468G> C null D E 406 406 missense 0.94 probably damaging 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1304599664 2q37.3 2 241253470C> T null D N 406 406 missense 0.312 benign 0.26 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs188141511 2q37.3 2 241253466T> C null K R 407 407 0.000399 missense 0.003 benign 0.24 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1186578519 2q37.3 2 241253462G> C null I M 408 408 missense 0.978 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1450010232 2q37.3 2 241253449G> A null P S 413 413 missense 0.986 probably damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1170200390 2q37.3 2 241253446T> C null T A 414 414 missense 0.312 benign 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1323220004 2q37.3 2 241253440C> A null D Y 416 416 missense 0.94 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1454767196 2q37.3 2 241253437C> T null V I 417 417 missense 0.976 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs568215896 2q37.3 2 241253434T> G null N H 418 418 0.0002 missense 0.014 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs7578199 2q37.3 2 241253433T> C null N S 418 418 0.1378 missense 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs7578199 2q37.3 2 241253433T> G null N T 418 418 0.1378 missense 0.001 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,TOPMed,gnomAD rs143089046 2q37.3 2 241253427G> A null A V 420 420 missense 0.045 benign 0.18 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1249810478 2q37.3 2 241253424T> C null Q R 421 421 missense 0.001 benign 0.4 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1319981187 2q37.3 2 241253418T> C null Q R 423 423 missense 0.103 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs776269894 2q37.3 2 241253411T> G null E D 425 425 missense 0.135 benign 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1258700672 2q37.3 2 241253405C> T null M I 427 427 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1485508430 2q37.3 2 241253406A> G null M T 427 427 missense 0.039 benign 0.22 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1366512900 2q37.3 2 241253407T> C null M V 427 427 missense 0.009 benign 0.27 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1361084095 2q37.3 2 241253403A> C null V G 428 428 missense 0.049 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1223550181 2q37.3 2 241253404C> G null V L 428 428 missense 0.02 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1282766552 2q37.3 2 241253400T> A null K I 429 429 missense 0.381 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs899877903 2q37.3 2 241253397T> A null D V 430 430 missense 0.948 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1259146230 2q37.3 2 241253035T> C null I V 432 432 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs778201425 2q37.3 2 241253028C> T null R Q 434 434 missense 0.022 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1208333007 2q37.3 2 241253024C> T null M I 435 435 missense 0.055 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs754453807 2q37.3 2 241253019T> C null Y C 437 437 missense 0.019 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs765897287 2q37.3 2 241253011T> A null I F 440 440 missense 0.717 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1470218667 2q37.3 2 241253009G> C null I M 440 440 missense 0.341 benign 0.31 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs923651807 2q37.3 2 241253010A> G null I T 440 440 missense 0.628 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114345925 2q37.3 2 241253007T> C null N S 441 441 0.000399 missense 0.0 benign 0.84 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114345925 2q37.3 2 241253007T> G null N T 441 441 0.000399 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1169568768 2q37.3 2 241253000G> T null D E 443 443 missense 0.113 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs967948797 2q37.3 2 241253002C> T null D N 443 443 missense 0.261 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs761574565 2q37.3 2 241252987T> C null R G 448 448 missense 0.031 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1437474732 2q37.3 2 241252966C> T null G S 455 455 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs772433542 2q37.3 2 241249972T> C null I V 461 461 missense 0.104 benign 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs748599607 2q37.3 2 241249969T> C null K E 462 462 missense 0.976 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559501621 2q37.3 2 241249963G> C null Q E 464 464 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1358861208 2q37.3 2 241249959T> C null Y C 465 465 missense 0.001 benign 0.16 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1382355136 cosmic curated [Cosmic]: breast pubmed:22302350,cosmic_study:370 2q37.3 2 241249955C> G null K N 466 466 missense 0.051 benign 0.43 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs755620029 2q37.3 2 241249956T> C null K R 466 466 missense 0.118 benign 0.31 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs997824640 2q37.3 2 241249950G> A null S F 468 468 missense 0.875 possibly damaging 0.19 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes rs573105480 2q37.3 2 241249947A> G null V A 469 469 0.0002 missense 0.406 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1384636597 2q37.3 2 241249948C> G null V L 469 469 missense 0.09 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1384636597 2q37.3 2 241249948C> T null V M 469 469 missense 0.422 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1180226952 cosmic curated [Cosmic]: autonomic_ganglia pubmed:23334666,cosmic_study:466 2q37.3 2 241249945G> A null R C 470 470 missense 0.347 benign 0.01 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs780871072 2q37.3 2 241249942T> C null I V 471 471 missense 0.73 possibly damaging 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1052841532 2q37.3 2 241249935G> A null P L 473 473 missense 0.022 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1192906299 2q37.3 2 241249936G> T null P T 473 473 missense 0.025 benign 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs758279727 2q37.3 2 241249916A> C null N K 479 479 missense 0.127 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1222304781 2q37.3 2 241249914A> G null L S 480 480 missense 0.211 benign 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs752666961 2q37.3 2 241249909G> A null R C 482 482 missense 0.993 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1271362034 2q37.3 2 241249908C> T null R H 482 482 missense 0.829 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs765331558 2q37.3 2 241249906T> C null I V 483 483 missense 0.036 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1447913820 2q37.3 2 241249903C> T null E K 484 484 missense 0.981 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1428559202 2q37.3 2 241249893G> A null P L 487 487 missense 0.764 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs760744082 2q37.3 2 241249885C> T null V M 490 490 missense 0.843 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs773438416 2q37.3 2 241249876C> A null A S 493 493 missense 0.964 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs772415501 2q37.3 2 241249875G> A null A V 493 493 missense 0.422 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1420844409 2q37.3 2 241249870G> A null R * 495 495 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs370192530 2q37.3 2 241249869C> T null R Q 495 495 missense 0.003 benign 0.52 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1200637799 2q37.3 2 241249846G> A null R C 503 503 missense 0.954 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1200637799 2q37.3 2 241249846G> C null R G 503 503 missense 0.79 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,gnomAD rs151140223 2q37.3 2 241249845C> T null R H 503 503 missense 0.422 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1190768773 2q37.3 2 241249841C> T null M I 504 504 missense 0.014 benign 0.18 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1023568942 2q37.3 2 241249843T> C null M V 504 504 missense 0.023 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1421950518 2q37.3 2 241248347T> C null E G 505 505 missense 0.76 possibly damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1263823381 cosmic curated [Cosmic]: endometrium cosmic_study:419 2q37.3 2 241248338C> T null R H 508 508 missense 0.039 benign 0.09 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1439509990 2q37.3 2 241248333T> C null K E 510 510 missense 0.316 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs767610900 2q37.3 2 241248327G> T null L I 512 512 missense 0.048 benign 0.69 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs767610900 2q37.3 2 241248327G> C null L V 512 512 missense 0.101 benign 0.67 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs761986466 2q37.3 2 241248323A> C null I S 513 513 missense 0.037 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1282899775 2q37.3 2 241248318C> T null E K 515 515 missense 0.273 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs764310403 2q37.3 2 241248306G> A null H Y 519 519 missense 0.982 probably damaging 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559499253 2q37.3 2 241248302C> T null R H 520 520 missense 0.983 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs775858829 2q37.3 2 241248295G> C null I M 522 522 missense 0.885 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs763435125 2q37.3 2 241248297T> C null I V 522 522 missense 0.55 possibly damaging 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559499185 2q37.3 2 241248276G> A null R W 529 529 missense 0.888 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1460165009 2q37.3 2 241248270G> A null R C 531 531 missense 0.969 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1340226483 2q37.3 2 241248269C> T null R H 531 531 missense 0.955 probably damaging 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs760239912 2q37.3 2 241248261G> A null R C 534 534 missense 0.414 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1406351960 cosmic curated [Cosmic]: large_intestine cosmic_study:375 2q37.3 2 241248260C> T null R H 534 534 missense 0.981 probably damaging 0.04 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1365848414 2q37.3 2 241248255T> G null K Q 536 536 missense 0.661 possibly damaging 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1162100393 2q37.3 2 241248254T> C null K R 536 536 missense 0.276 benign 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs772808360 2q37.3 2 241248252A> C null F V 537 537 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559498875 2q37.3 2 241248113T> C null I V 541 541 missense 0.039 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1029749733 2q37.3 2 241248101G> C null P A 545 545 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs770255776 2q37.3 2 241248098C> G null D H 546 546 missense 0.997 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1453151552 2q37.3 2 241248094G> A null P L 547 547 missense 0.316 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs745750949 2q37.3 2 241248083T> C null S G 551 551 missense 0.933 probably damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs781166307 2q37.3 2 241248076A> T null I N 553 553 missense 0.674 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs747154508 2q37.3 2 241248059G> A null P S 559 559 missense 0.382 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs748517409 2q37.3 2 241248055T> C null K R 560 560 missense 0.16 benign 0.18 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1213442886 2q37.3 2 241248049T> C null E G 562 562 missense 0.044 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1394634926 2q37.3 2 241248047C> T null V M 563 563 missense 0.966 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1346242316 2q37.3 2 241248040T> G null K T 565 565 missense 0.462 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1303307976 2q37.3 2 241248034G> A null T I 567 567 missense 0.026 benign 0.38 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs894283509 2q37.3 2 241248023G> C null Q E 571 571 missense 0.025 benign 0.6 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs752867460 2q37.3 2 241248015C> G null M I 573 573 missense 0.026 benign 0.32 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC rs758598415 2q37.3 2 241248016A> G null M T 573 573 missense 0.043 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1170624294 2q37.3 2 241248017T> C null M V 573 573 missense 0.005 benign 0.45 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1452996011 2q37.3 2 241248011C> T null A T 575 575 missense 0.012 benign 0.42 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs755449911 2q37.3 2 241248010G> A null A V 575 575 missense 0.287 benign 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs780583839 2q37.3 2 241247135T> C null N S 580 580 missense 0.031 benign 0.66 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs11555545 2q37.3 2 241247132C> G null S T 581 581 missense 0.57 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs937344069 2q37.3 2 241247124T> C null I V 584 584 missense 0.007 benign 0.5 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs769058847 2q37.3 2 241247115G> C null P A 587 587 missense 0.461 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs756644872 2q37.3 2 241247114G> A null P L 587 587 missense 0.913 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs763604849 2q37.3 2 241247093T> C null K R 594 594 missense 0.174 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1358923618 2q37.3 2 241247090T> C null N S 595 595 missense 0.646 possibly damaging 0.29 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs181729976 2q37.3 2 241247084A> G null I T 597 597 0.0002 missense 0.868 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs764911830 2q37.3 2 241247070C> T null A T 602 602 missense 0.111 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1161917676 2q37.3 2 241247069G> A null A V 602 602 missense 0.105 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs776362305 2q37.3 2 241247065G> C null N K 603 603 missense 0.142 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs759306459 2q37.3 2 241247066T> G null N T 603 603 missense 0.042 benign 0.18 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs918561418 2q37.3 2 241246879C> T null R H 608 608 missense 0.597 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1217931932 2q37.3 2 241246856C> T null D N 616 616 missense 0.493 possibly damaging 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs770193034 2q37.3 2 241246839A> C null N K 621 621 missense 0.197 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1444526185 2q37.3 2 241246834T> C null N S 623 623 missense 0.025 benign 0.17 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559497220 2q37.3 2 241246831G> A null S L 624 624 missense 0.844 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559497205 2q37.3 2 241246817T> C null I V 629 629 missense 0.059 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs746261841 2q37.3 2 241246813G> C null T R 630 630 missense 0.771 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559497188 2q37.3 2 241246805G> A null R * 633 633 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs757658659 2q37.3 2 241246804C> G null R P 633 633 missense 0.67 possibly damaging 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs757658659 2q37.3 2 241246804C> T null R Q 633 633 missense 0.024 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs747546844 2q37.3 2 241246798T> C null N S 635 635 missense 0.13 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1002069225 2q37.3 2 241246793C> T null E K 637 637 missense 0.111 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1483735019 2q37.3 2 241246787C> A null A S 639 639 missense 0.894 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs777767470 2q37.3 2 241246783C> T null R Q 640 640 missense 0.131 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs754540075 cosmic curated [Cosmic]: endometrium cosmic_study:419 2q37.3 2 241246784G> A null R W 640 640 missense 0.118 benign 0.03 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs149428713 2q37.3 2 241242674T> C null N S 652 652 missense 0.121 benign 0.12 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1256845609 2q37.3 2 241242672T> C null I V 653 653 missense 0.421 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs755680102 2q37.3 2 241242666C> T null E K 655 655 missense 0.306 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1243642652 2q37.3 2 241242657C> T null V I 658 658 missense 0.074 benign 0.47 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs757179990 2q37.3 2 241242648G> T null P T 661 661 missense 0.844 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1184810683 2q37.3 2 241242641T> C null K R 663 663 missense 0.101 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1238138959 2q37.3 2 241242639G> C null L V 664 664 missense 0.381 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs376700640 2q37.3 2 241242623A> G null I T 669 669 missense 0.248 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs775384709 2q37.3 2 241242617G> T null T N 671 671 missense 0.022 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1156288804 2q37.3 2 241242612C> T null G S 673 673 missense 0.998 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1426076682 2q37.3 2 241242609G> A null R C 674 674 missense 0.446 possibly damaging 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs765392068 2q37.3 2 241242608C> T null R H 674 674 missense 0.721 possibly damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs776926351 2q37.3 2 241242600G> A null R C 677 677 missense 0.226 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1194166211 2q37.3 2 241242597A> T null S T 678 678 missense 0.691 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1262826847 2q37.3 2 241242590A> G null M T 680 680 missense 0.287 benign 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1266133167 2q37.3 2 241242579C> T null G S 684 684 missense 0.791 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs757259747 2q37.3 2 241242572A> C null V G 686 686 missense 0.954 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1320486746 2q37.3 2 241242573C> T null V I 686 686 missense 0.7 possibly damaging 0.12 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140921483 2q37.3 2 241242555C> T null V M 692 692 0.000399 missense 0.006 benign 0.12 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1219258173 2q37.3 2 241242549C> G null G R 694 694 missense 0.485 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs751452385 2q37.3 2 241242542C> T null G E 696 696 missense 0.462 possibly damaging 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1019420712 2q37.3 2 241242537C> T null D N 698 698 missense 0.451 possibly damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs202096199 2q37.3 2 241242531C> T null V I 700 700 missense 0.049 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1477335554 2q37.3 2 241242528C> T null V I 701 701 missense 0.003 benign 0.31 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146439982 2q37.3 2 241242523G> C null I M 702 702 0.000599 missense 0.897 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs759720651 2q37.3 2 241242512G> A null S F 706 706 missense 0.121 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs909483686 2q37.3 2 241242513A> T null S T 706 706 missense 0.003 benign 0.3 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs151299167 2q37.3 2 241242509G> A null S L 707 707 0.000399 missense 0.04 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1374059225 2q37.3 2 241242503A> G null V A 709 709 missense 0.271 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs983647050 2q37.3 2 241242504C> G null V L 709 709 missense 0.48 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs760907330 2q37.3 2 241242496C> A null K N 711 711 missense 0.077 benign 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs773522283 2q37.3 2 241242491T> G null K T 713 713 missense 0.065 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs762165124 2q37.3 2 241242489T> C null K E 714 714 missense 0.088 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs762165124 2q37.3 2 241242489T> G null K Q 714 714 missense 0.009 benign 0.47 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1304230191 2q37.3 2 241242476T> A null H L 718 718 missense 0.062 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1234910093 2q37.3 2 241242470G> A null A V 720 720 missense 0.704 possibly damaging 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs769186742 2q37.3 2 241242467T> C null E G 721 721 missense 0.005 benign 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1384627037 2q37.3 2 241242465C> T null E K 722 722 missense 0.348 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1401851553 2q37.3 2 241242461T> C null K R 723 723 missense 0.007 benign 0.48 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1183327892 2q37.3 2 241240118G> C null T S 725 725 missense 0.253 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1424008744 2q37.3 2 241240104C> A null V F 730 730 missense 0.694 possibly damaging 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1339596954 2q37.3 2 241240096G> C null I M 732 732 missense 0.087 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs754903566 2q37.3 2 241240095G> A null R C 733 733 missense 0.843 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs115571292 2q37.3 2 241240094C> T null R H 733 733 0.006589 missense 0.052 benign 0.26 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs756241811 2q37.3 2 241240092C> T null A T 734 734 missense 0.962 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1405888654 2q37.3 2 241240082T> C null E G 737 737 missense 0.864 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1335810214 2q37.3 2 241240071A> C null F V 741 741 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs757542367 2q37.3 2 241240065T> C null I V 743 743 missense 0.798 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,gnomAD rs143103039 2q37.3 2 241240062C> G null G R 744 744 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,gnomAD rs143103039 cosmic curated [Cosmic]: kidney cosmic_study:416 2q37.3 2 241240062C> T null G S 744 744 missense 0.991 probably damaging 0.08 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs906480587 2q37.3 2 241240055C> T null G E 746 746 missense 0.978 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs763451461 2q37.3 2 241240056C> G null G R 746 746 missense 0.843 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1574877615 2q37.3 2 241240052C> T null G D 747 747 missense 0.985 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1486987244 2q37.3 2 241240050C> T null G S 748 748 missense 0.012 benign 0.37 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs199968516 2q37.3 2 241240049C> A null G V 748 748 missense 0.041 benign 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs760329761 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: liver pubmed:22810696,cosmic_study:322,cosmic_study:328,cosmic_study:376,cosmic_study:419 2q37.3 2 241240041G> A null R C 751 751 missense 0.888 possibly damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs772976334 2q37.3 2 241240040C> T null R H 751 751 missense 0.021 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs893602391 2q37.3 2 241240036C> G null K N 752 752 missense 0.915 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1220298990 2q37.3 2 241240035C> A null V L 753 753 missense 0.042 benign 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,gnomAD rs141380467 2q37.3 2 241240032G> A null R C 754 754 missense 0.969 probably damaging 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1399655029 2q37.3 2 241240031C> T null R H 754 754 missense 0.969 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs780030761 2q37.3 2 241240022G> C null T S 757 757 missense 0.119 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1175857333 2q37.3 2 241240016G> A null A V 759 759 missense 0.283 benign 0.17 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,gnomAD rs370186689 2q37.3 2 241240013C> T null R H 760 760 missense 0.974 probably damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,gnomAD rs370186689 2q37.3 2 241240013C> A null R L 760 760 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1424807099 2q37.3 2 241240010A> G null V A 761 761 missense 0.087 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC rs751738727 2q37.3 2 241240008T> A null I F 762 762 missense 0.323 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs11555548 2q37.3 2 241240001G> A null P L 764 764 missense 0.969 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1159214190 2q37.3 2 241239999C> G null A P 765 765 missense 0.012 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs758748107 2q37.3 2 241239998G> A null A V 765 765 missense 0.093 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1247911599 2q37.3 2 241239986T> G null K T 769 769 missense 0.009 benign 0.63 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1030179762 2q37.3 2 241239984C> G null D H 770 770 missense 0.894 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1009876583 2q37.3 2 241239966T> C null I V 776 776 missense 0.113 benign 0.16 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375902370 2q37.3 2 241239963T> A null I F 777 777 missense 0.079 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs765886386 2q37.3 2 241239962A> G null I T 777 777 missense 0.127 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375902370 2q37.3 2 241239963T> C null I V 777 777 missense 0.007 benign 0.43 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1449882818 2q37.3 2 241239952C> A null E D 780 780 missense 0.02 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs200770509 2q37.3 2 241239949G> C null D E 781 781 0.0002 missense 0.003 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1200458864 2q37.3 2 241239948C> T null A T 782 782 missense 0.477 possibly damaging 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs772806420 2q37.3 2 241239947G> A null A V 782 782 missense 0.586 possibly damaging 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs761469892 cosmic curated [Cosmic]: large_intestine cosmic_study:375 2q37.3 2 241239945C> T null V I 783 783 missense 0.394 benign 0.04 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1214801603 2q37.3 2 241239942G> A null R * 784 784 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs773929734 2q37.3 2 241239941C> T null R Q 784 784 missense 0.0 benign 0.19 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,TOPMed,gnomAD rs149815299 2q37.3 2 241239914A> G null L S 793 793 missense 0.135 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1401427824 2q37.3 2 241239912T> C null I V 794 794 missense 0.29 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs745840916 2q37.3 2 241239909G> C null Q E 795 795 missense 0.023 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1407833046 2q37.3 2 241239908T> C null Q R 795 795 missense 0.0 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1574876946 2q37.3 2 241239905T> G null N T 796 796 missense 0.149 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1237865950 2q37.3 2 241239817T> C null N D 799 799 missense 0.073 benign 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs919543833 2q37.3 2 241239810A> G null V A 801 801 missense 0.098 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1478583172 2q37.3 2 241239811C> A null V L 801 801 missense 0.059 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs761359186 2q37.3 2 241239806T> G null E D 802 802 missense 0.577 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1221036289 2q37.3 2 241239808C> T null E K 802 802 missense 0.299 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs748384140 2q37.3 2 241239805C> T null D N 803 803 missense 0.345 benign 0.26 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs779363266 2q37.3 2 241239801G> A null S F 804 804 missense 0.003 benign 0.7 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1192379452 2q37.3 2 241239787G> C null P A 809 809 missense 0.614 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs754362167 2q37.3 2 241239786G> C null P R 809 809 missense 0.953 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs780463546 2q37.3 2 241239780T> G null H P 811 811 missense 0.847 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs79678263 2q37.3 2 241239777T> A null H L 812 812 missense 0.847 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs79678263 2q37.3 2 241239777T> G null H P 812 812 missense 0.967 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs79678263 2q37.3 2 241239777T> C null H R 812 812 missense 0.915 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs750987672 cosmic curated [Cosmic]: large_intestine cosmic_study:376 2q37.3 2 241239774C> T null R H 813 813 missense 0.55 possibly damaging 0.06 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs910628111 2q37.3 2 241239771T> C null H R 814 814 missense 0.015 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs763692759 2q37.3 2 241239766C> T null V I 816 816 missense 0.078 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,TOPMed,gnomAD rs200702604 2q37.3 2 241239759C> T null R H 818 818 missense 0.939 probably damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1181112753 2q37.3 2 241239756C> T null R K 819 819 missense 0.072 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs762530439 2q37.3 2 241239749C> G null Q H 821 821 missense 0.882 possibly damaging 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,dbSNP,gnomAD rs371053785 [ClinVar]: Marfanoid habitus and intellectual disability 2q37.3 2 241239742G> C null R G 824 824 missense 0.597 possibly damaging 0.01 deleterious 0 Marfanoid habitus and intellectual disability ClinVar:RCV000850416 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs377448064 cosmic curated [Cosmic]: upper_aerodigestive_tract pubmed:23619168,cosmic_study:561 2q37.3 2 241239741C> T null R Q 824 824 missense 0.022 benign 0.13 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs371053785 2q37.3 2 241239742G> A null R W 824 824 missense 0.121 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1488623926 2q37.3 2 241239730C> T null E K 828 828 missense 0.182 benign 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs759392733 2q37.3 2 241239725C> G null E D 829 829 missense 0.109 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs151104717 2q37.3 2 241239723T> C null Y C 830 830 missense 0.02 benign 0.28 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1366543397 2q37.3 2 241239724A> G null Y H 830 830 missense 0.847 possibly damaging 0.4 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1324079070 2q37.3 2 241239721C> T null G S 831 831 missense 0.823 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs200802562 2q37.3 2 241239714A> C null V G 833 833 missense 0.018 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1356866448 2q37.3 2 241239715C> A null V L 833 833 missense 0.164 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1279638603 2q37.3 2 241239710C> T null M I 834 834 missense 0.001 benign 0.77 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1279638603 2q37.3 2 241239710C> A null M I 834 834 missense 0.001 benign 0.77 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC rs772290900 2q37.3 2 241239711A> T null M K 834 834 missense 0.062 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs773097426 2q37.3 2 241239712T> C null M V 834 834 missense 0.007 benign 0.54 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC rs199506125 2q37.3 2 241239708A> G null V A 835 835 missense 0.596 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC rs199506125 2q37.3 2 241239708A> C null V G 835 835 missense 0.962 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC rs748367542 2q37.3 2 241239709C> G null V L 835 835 missense 0.22 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs749661867 2q37.3 2 241239706T> C null S G 836 836 missense 0.636 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed rs780486771 2q37.3 2 241239705C> T null S N 836 836 missense 0.599 possibly damaging 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1452768247 2q37.3 2 241239700G> A null P S 838 838 missense 0.74 possibly damaging 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1213028910 2q37.3 2 241239696C> T null R H 839 839 missense 0.828 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1459355982 2q37.3 2 241239687G> C null T R 842 842 missense 0.382 benign 0.48 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs756541532 2q37.3 2 241239683C> G null Q H 843 843 missense 0.012 benign 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs147457010 2q37.3 2 241239680G> T null S R 844 844 missense 0.978 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs757966131 2q37.3 2 241239679C> T null D N 845 845 missense 0.127 benign 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1280232163 2q37.3 2 241239676T> C null K E 846 846 missense 0.343 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs904896800 2q37.3 2 241239675T> C null K R 846 846 missense 0.011 benign 0.6 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs904896800 2q37.3 2 241239675T> G null K T 846 846 missense 0.034 benign 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1196053898 2q37.3 2 241239669G> A null T I 848 848 missense 0.025 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1444255918 2q37.3 2 241239664T> C null K E 850 850 missense 0.92 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs532145414 2q37.3 2 241239658C> G null A P 852 852 0.0002 missense 0.073 benign 0.22 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs532145414 2q37.3 2 241239658C> T null A T 852 852 0.0002 missense 0.099 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1416228775 2q37.3 2 241239657G> A null A V 852 852 missense 0.662 possibly damaging 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs766199413 2q37.3 2 241239651T> C null D G 854 854 missense 0.028 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1158451246 2q37.3 2 241239640C> T null A T 858 858 missense 0.198 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs773259310 2q37.3 2 241239636G> C null A G 859 859 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs767701164 2q37.3 2 241239628G> A null R C 862 862 missense 0.108 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs767701164 2q37.3 2 241239628G> C null R G 862 862 missense 0.693 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs762020447 2q37.3 2 241239627C> T null R H 862 862 missense 0.279 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs762020447 2q37.3 2 241239627C> A null R L 862 862 missense 0.194 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs774689627 2q37.3 2 241239625T> C null I V 863 863 missense 0.275 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs749559163 2q37.3 2 241239612A> G null I T 867 867 missense 0.03 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs144556840 2q37.3 2 241239605G> C null D E 869 869 missense 0.076 benign 0.16 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs772620966 2q37.3 2 241239607C> T null D N 869 869 missense 0.162 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1179816556 2q37.3 2 241238783G> A null A V 872 872 missense 0.943 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1437547989 2q37.3 2 241238781G> A null Q * 873 873 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs755839436 2q37.3 2 241238779C> G null Q H 873 873 missense 0.894 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1248887796 2q37.3 2 241238780T> A null Q L 873 873 missense 0.875 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1574869857 2q37.3 2 241238778C> T null V M 874 874 missense 0.982 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1483395854 2q37.3 2 241238774G> A null T I 875 875 missense 0.278 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1278964455 2q37.3 2 241238765C> T null C Y 878 878 missense 0.76 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1231529677 2q37.3 2 241238763C> T null A T 879 879 missense 0.001 benign 0.34 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs750190856 2q37.3 2 241238760T> C null I V 880 880 missense 0.326 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs781161341 2q37.3 2 241238756G> T null P H 881 881 missense 0.744 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1238272873 2q37.3 2 241238753T> C null Q R 882 882 missense 0.95 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1225518003 2q37.3 2 241238742G> A null R * 886 886 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs528720838 2q37.3 2 241238736C> G null V L 888 888 missense 0.056 benign 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1397986112 2q37.3 2 241238733T> A null M L 889 889 missense 0.022 benign 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs764070872 2q37.3 2 241238726G> A null P L 891 891 missense 0.347 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs763163799 2q37.3 2 241238723T> C null K R 892 892 missense 0.189 benign 0.34 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1321954244 2q37.3 2 241238720C> A null G V 893 893 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC rs765545509 2q37.3 2 241238717G> A null S F 894 894 missense 0.528 possibly damaging 0.78 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs759778635 2q37.3 2 241238706G> A null Q * 898 898 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP rs376116113 2q37.3 2 241238699G> A null T I 900 900 missense 0.796 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs771295977 2q37.3 2 241238696C> T null R Q 901 901 missense 0.031 benign 0.35 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs776943175 cosmic curated [Cosmic]: breast cosmic_study:414 2q37.3 2 241238697G> A null R W 901 901 missense 0.934 probably damaging 0.03 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1190109215 2q37.3 2 241238687C> T null S N 904 904 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs768019779 2q37.3 2 241238675T> C null K R 908 908 missense 0.995 probably damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC rs748874925 2q37.3 2 241238662T> G null R S 912 912 missense 0.81 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs779449255 2q37.3 2 241238655T> C null N D 915 915 missense 0.01 benign 0.62 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC rs745517400 2q37.3 2 241238652C> T null A T 916 916 missense 0.001 benign 0.43 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs61757693 2q37.3 2 241236766T> C null H R 918 918 missense 0.046 benign 0.56 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs776496339 2q37.3 2 241236763C> G null S T 919 919 missense 0.072 benign 0.55 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs770822941 cosmic curated [Cosmic]: urinary_tract cosmic_study:413 2q37.3 2 241236758C> G null E Q 921 921 missense 0.087 benign 0.28 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs746849248 2q37.3 2 241236757T> A null E V 921 921 missense 0.631 possibly damaging 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1333629097 2q37.3 2 241236746G> C null Q E 925 925 missense 0.013 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs758317347 2q37.3 2 241236740T> G null N H 927 927 missense 0.979 probably damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369507432 2q37.3 2 241236731C> T null E K 930 930 missense 0.003 benign 0.65 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1208064006 2q37.3 2 241236727G> C null A G 931 931 missense 0.0 benign 0.47 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs142659756 2q37.3 2 241236724C> G null G A 932 932 missense 0.003 benign 0.32 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs750756203 2q37.3 2 241236716T> C null R G 935 935 missense 0.0 benign 0.4 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs767776112 2q37.3 2 241236707T> C null K E 938 938 missense 0.041 benign 0.81 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs767776112 2q37.3 2 241236707T> G null K Q 938 938 missense 0.041 benign 0.44 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs951499300 2q37.3 2 241236701A> C null C G 940 940 missense 0.0 benign 0.45 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs951499300 2q37.3 2 241236701A> G null C R 940 940 missense 0.003 benign 0.51 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1027587329 2q37.3 2 241236696G> T null D E 941 941 missense 0.009 benign 0.7 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs995731049 2q37.3 2 241236695G> C null P A 942 942 missense 0.134 benign 0.17 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs995731049 2q37.3 2 241236695G> A null P S 942 942 missense 0.35 benign 0.3 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,gnomAD rs145223755 2q37.3 2 241236691C> T null G D 943 943 missense 0.003 benign 0.62 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,TOPMed rs561809495 2q37.3 2 241236692C> T null G S 943 943 0.0002 missense 0.003 benign 0.78 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs2305072 2q37.3 2 241236682C> G null R T 946 946 missense 0.072 benign 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1449381216 2q37.3 2 241236683T> A null R W 946 946 missense 0.828 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs759158851 2q37.3 2 241236679C> T null R K 947 947 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs776400845 2q37.3 2 241236676C> T null C Y 948 948 missense 0.75 possibly damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs746674954 2q37.3 2 241236665T> A null I F 952 952 missense 0.009 benign 0.71 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs143341723 2q37.3 2 241236663G> C null I M 952 952 missense 0.031 benign 0.25 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559481630 2q37.3 2 241236662T> A null I F 953 953 missense 0.972 probably damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC rs771778870 2q37.3 2 241236658G> A null S F 954 954 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs145714274 cosmic curated [Cosmic]: breast cosmic_study:414 2q37.3 2 241236652C> T null R Q 956 956 missense 0.908 possibly damaging 0.11 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs778753184 2q37.3 2 241236653G> A null R W 956 956 missense 0.989 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1282551852 2q37.3 2 241236647C> G null E Q 958 958 missense 0.993 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs749312258 2q37.3 2 241236637T> G null E A 961 961 missense 0.79 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs896624019 2q37.3 2 241236638C> G null E Q 961 961 missense 0.308 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs572912678 2q37.3 2 241236635C> A null A S 962 962 0.000799 missense 0.322 benign 0.27 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1301799884 2q37.3 2 241236634G> A null A V 962 962 missense 0.738 possibly damaging 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs557925333 2q37.3 2 241236626C> T null E K 965 965 0.0002 missense 0.113 benign 0.22 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs557925333 2q37.3 2 241236626C> G null E Q 965 965 0.0002 missense 0.113 benign 0.52 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1374456315 2q37.3 2 241236622G> A null A V 966 966 missense 0.991 probably damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1378599271 2q37.3 2 241236620G> T null L M 967 967 missense 0.988 probably damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs758892886 2q37.3 2 241235594C> A null A S 969 969 missense 0.784 possibly damaging 0.34 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs758892886 2q37.3 2 241235594C> T null A T 969 969 missense 0.972 probably damaging 0.23 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs779334390 2q37.3 2 241235589C> G null L F 970 970 missense 0.596 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs914923334 2q37.3 2 241235584G> A null P L 972 972 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1574851835 2q37.3 2 241235581A> G null V A 973 973 missense 0.963 probably damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1214379431 2q37.3 2 241235582C> T null V I 973 973 missense 0.404 benign 0.8 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1360672220 2q37.3 2 241235575A> G null I T 975 975 missense 0.009 benign 0.67 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs769672109 2q37.3 2 241235566T> G null E A 978 978 missense 0.04 benign 0.3 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs755527074 2q37.3 2 241235567C> T null E K 978 978 missense 0.328 benign 0.32 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1394910353 2q37.3 2 241235561G> C null P A 980 980 missense 0.775 possibly damaging 0.14 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1271506625 2q37.3 2 241235560G> A null P L 980 980 missense 0.6 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs751269194 2q37.3 2 241235554T> C null D G 982 982 missense 0.957 probably damaging 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs763870731 2q37.3 2 241235552G> A null L F 983 983 missense 0.058 benign 0.25 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1172814173 2q37.3 2 241235546G> A null R C 985 985 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs762778846 2q37.3 2 241235545C> T null R H 985 985 missense 0.998 probably damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs144083652 2q37.3 2 241235541G> C null Y * 986 986 0.000599 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs775385733 2q37.3 2 241235542T> C null Y C 986 986 missense 0.9 possibly damaging 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs34961814 2q37.3 2 241235540C> T null V I 987 987 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1254005009 2q37.3 2 241235537T> C null I V 988 988 missense 0.957 probably damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs776511784 2q37.3 2 241235524C> T null G E 992 992 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1227729795 2q37.3 2 241235519C> T null G R 994 994 missense 0.129 benign 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1405992847 2q37.3 2 241235518C> A null G V 994 994 missense 0.845 possibly damaging 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs747224928 2q37.3 2 241235513G> A null R C 996 996 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs773639028 2q37.3 2 241235499A> C null D E 1000 1000 missense 0.015 benign 0.92 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1324970880 2q37.3 2 241235496C> A null E D 1001 1001 missense 0.102 benign 0.55 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1481604838 2q37.3 2 241235245T> C null H R 1007 1007 missense 0.0 benign 0.54 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1430488034 2q37.3 2 241235246G> A null H Y 1007 1007 missense 0.033 benign 0.4 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1333778436 2q37.3 2 241235239G> A null P L 1009 1009 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1237972796 2q37.3 2 241235240G> A null P S 1009 1009 missense 1.0 probably damaging 0.31 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs757980527 2q37.3 2 241235237C> T null A T 1010 1010 missense 0.177 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1251229389 2q37.3 2 241235233G> A null P L 1011 1011 missense 0.532 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375138734 2q37.3 2 241235224T> A null Q L 1014 1014 missense 0.161 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs368614346 2q37.3 2 241235210C> T null A T 1019 1019 missense 0.001 benign 0.46 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs750456889 2q37.3 2 241235203G> A null T M 1021 1021 missense 0.866 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs148676564 2q37.3 2 241235195C> T null A T 1024 1024 missense 0.022 benign 0.32 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1262269085 2q37.3 2 241235192C> T null A T 1025 1025 missense 0.014 benign 0.22 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1317462458 2q37.3 2 241235189T> C null N D 1026 1026 missense 0.036 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1204500688 2q37.3 2 241235185A> G null L S 1027 1027 missense 0.845 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1205316129 2q37.3 2 241235181G> C null D E 1028 1028 missense 0.003 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1274853214 2q37.3 2 241235179C> A null R L 1029 1029 missense 0.043 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1274853214 2q37.3 2 241235179C> T null R Q 1029 1029 missense 0.405 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1348222068 2q37.3 2 241235180G> A null R W 1029 1029 missense 0.864 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs866622430 2q37.3 2 241235177C> T null A T 1030 1030 missense 0.274 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs746379684 2q37.3 2 241235173T> C null K R 1031 1031 missense 0.071 benign 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs747753675 2q37.3 2 241235162G> T null L M 1035 1035 missense 0.045 benign 0.17 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1574849338 2q37.3 2 241235161A> C null L R 1035 1035 missense 0.017 benign 0.52 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs778670196 2q37.3 2 241235156G> A null R C 1037 1037 missense 0.936 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559478259 2q37.3 2 241235155C> T null R H 1037 1037 missense 0.127 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs778670196 2q37.3 2 241235156G> T null R S 1037 1037 missense 0.476 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559478250 2q37.3 2 241235152A> G null V A 1038 1038 missense 0.035 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1574849283 2q37.3 2 241235153C> T null V M 1038 1038 missense 0.328 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1386871698 2q37.3 2 241235140T> C null Q R 1042 1042 missense 0.003 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs756054968 2q37.3 2 241235135C> T null E K 1044 1044 missense 0.083 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs866561712 2q37.3 2 241235128T> G null E A 1046 1046 missense 0.314 benign 0.12 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs750442483 2q37.3 2 241235129C> G null E Q 1046 1046 missense 0.314 benign 0.17 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs767701270 2q37.3 2 241235124G> C null D E 1047 1047 missense 0.174 benign 0.16 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1242223092 2q37.3 2 241235122C> T null R Q 1048 1048 missense 0.267 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1476078840 2q37.3 2 241235123G> A null R W 1048 1048 missense 0.989 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs866105821 2q37.3 2 241233963C> A null A S 1049 1049 missense 0.225 benign 0.5 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1354827359 2q37.3 2 241233962G> A null A V 1049 1049 missense 0.014 benign 0.25 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs571243212 2q37.3 2 241233941C> T null S N 1056 1056 missense 0.003 benign 0.28 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1574843200 2q37.3 2 241233932A> G null V A 1059 1059 missense 0.951 probably damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs765585751 2q37.3 2 241233929T> C null D G 1060 1060 missense 0.307 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs765585751 2q37.3 2 241233929T> A null D V 1060 1060 missense 0.591 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs777103021 2q37.3 2 241233927G> C null P A 1061 1061 missense 0.066 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1427404086 2q37.3 2 241233909T> C null I V 1067 1067 missense 0.158 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs773848988 2q37.3 2 241233903C> T null G R 1069 1069 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs11555550 2q37.3 2 241233894C> A null G W 1072 1072 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1170391197 2q37.3 2 241233890G> A null A V 1073 1073 missense 0.285 benign 0.12 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1482090373 2q37.3 2 241233881G> C null T S 1076 1076 missense 0.007 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs748965030 2q37.3 2 241233872C> T null R Q 1079 1079 missense 0.729 possibly damaging 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1212191858 2q37.3 2 241233873G> A null R W 1079 1079 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs745607429 2q37.3 2 241233840C> T null D N 1090 1090 missense 0.506 possibly damaging 0.19 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2230359 2q37.3 2 241233832G> T null D E 1092 1092 0.1236 missense 0.005 benign 0.37 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2230359 2q37.3 2 241233832G> C null D E 1092 1092 0.1236 missense 0.005 benign 0.37 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1419798633 2q37.3 2 241233834C> T null D N 1092 1092 missense 0.0 benign 0.62 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs758477087 2q37.3 2 241233823G> C null N K 1095 1095 missense 0.06 benign 0.19 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559471196 2q37.3 2 241230943G> A null P L 1097 1097 missense 0.007 benign 0.24 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs750917763 2q37.3 2 241230944G> A null P S 1097 1097 missense 0.003 benign 0.62 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1416429182 2q37.3 2 241230934T> C null Q R 1100 1100 missense 0.01 benign 0.56 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs140776659 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 2q37.3 2 241230914C> T null E K 1107 1107 missense 0.562 possibly damaging 0.05 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs140776659 2q37.3 2 241230914C> G null E Q 1107 1107 missense 0.692 possibly damaging 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs770732430 2q37.3 2 241230898G> A null A V 1112 1112 missense 0.703 possibly damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs760438598 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 2q37.3 2 241230893T> C null R G 1114 1114 missense 0.844 possibly damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1454369072 2q37.3 2 241230891C> G null R S 1114 1114 missense 0.793 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,gnomAD rs372685027 2q37.3 2 241230887C> T null A T 1116 1116 missense 0.32 benign 0.2 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1425884109 2q37.3 2 241230884T> C null I V 1117 1117 missense 0.822 possibly damaging 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs771960300 2q37.3 2 241230880A> G null L P 1118 1118 missense 0.966 probably damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs748088464 2q37.3 2 241230877C> T null R K 1119 1119 missense 0.001 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs778946858 2q37.3 2 241230875T> A null I F 1120 1120 missense 0.947 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs768789088 cosmic curated [Cosmic]: endometrium cosmic_study:419 2q37.3 2 241230866C> T null E K 1123 1123 missense 0.025 benign 0.02 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1287534661 2q37.3 2 241230863G> T null L I 1124 1124 missense 0.835 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1455825281 2q37.3 2 241230857G> C null Q E 1126 1126 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs780186842 2q37.3 2 241230840G> T null D E 1131 1131 missense 0.01 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs756379632 2q37.3 2 241230839C> T null V I 1132 1132 missense 0.02 benign 0.94 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs368440496 2q37.3 2 241230835G> A null P L 1133 1133 missense 0.006 benign 0.41 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs569995599 2q37.3 2 241230830C> G null D H 1135 1135 0.0002 missense 0.744 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs753509915 2q37.3 2 241230821C> T null V I 1138 1138 missense 0.031 benign 0.25 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs760410955 cosmic curated [Cosmic]: ovary pubmed:22102435,cosmic_study:397 2q37.3 2 241230811C> T null R H 1141 1141 missense 0.997 probably damaging 0.17 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs772822054 2q37.3 2 241230809T> C null I V 1142 1142 missense 0.073 benign 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs767353594 2q37.3 2 241230799G> A null A V 1145 1145 missense 0.549 possibly damaging 0.31 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs774308878 2q37.3 2 241230797G> A null R C 1146 1146 missense 0.944 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs768699303 2q37.3 2 241230796C> T null R H 1146 1146 missense 0.891 possibly damaging 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,TOPMed rs370946253 2q37.3 2 241230787G> C null A G 1149 1149 missense 0.012 benign 0.45 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed rs769840070 2q37.3 2 241230782G> A null R C 1151 1151 missense 0.993 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs746115994 2q37.3 2 241230781C> T null R H 1151 1151 missense 0.891 possibly damaging 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs781680747 2q37.3 2 241230775A> G null I T 1153 1153 missense 0.786 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs201478473 2q37.3 2 241230773T> A null M L 1154 1154 0.0002 missense 0.877 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs753251867 2q37.3 2 241230767C> T null E K 1156 1156 missense 0.026 benign 0.14 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs765922546 2q37.3 2 241230762G> C null F L 1157 1157 missense 0.852 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1157507249 2q37.3 2 241230763A> G null F S 1157 1157 missense 0.975 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs372823425 2q37.3 2 241230760T> C null K R 1158 1158 missense 0.464 possibly damaging 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs894032339 2q37.3 2 241230263T> A null I F 1161 1161 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs752747372 cosmic curated [Cosmic]: large_intestine cosmic_study:376 2q37.3 2 241230259C> T null R H 1162 1162 missense 0.701 possibly damaging 0.02 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1185300977 2q37.3 2 241230255G> C null F L 1163 1163 missense 0.945 probably damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1293293553 2q37.3 2 241230248T> C null S G 1166 1166 missense 0.009 benign 0.24 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs776876774 2q37.3 2 241230244C> T null G E 1167 1167 missense 0.01 benign 0.44 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs759712338 2q37.3 2 241230245C> T null G R 1167 1167 missense 0.067 benign 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs771240280 2q37.3 2 241230241G> T null A D 1168 1168 missense 0.014 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1343850448 2q37.3 2 241230234G> C null D E 1170 1170 missense 0.261 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs376382320 2q37.3 2 241230224C> T null V I 1174 1174 missense 0.63 possibly damaging 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1283726369 2q37.3 2 241230221T> G null T P 1175 1175 missense 0.905 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1283726369 2q37.3 2 241230221T> A null T S 1175 1175 missense 0.373 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs748567689 2q37.3 2 241230217A> C null V G 1176 1176 missense 0.983 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs779520491 2q37.3 2 241230214G> A null T M 1177 1177 missense 0.134 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1041170759 2q37.3 2 241230188C> T null A T 1186 1186 missense 0.979 probably damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs944103334 cosmic curated [Cosmic]: upper_aerodigestive_tract pubmed:24292195,cosmic_study:563 2q37.3 2 241230182C> T null D N 1188 1188 missense 0.761 possibly damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,TOPMed,gnomAD rs373443431 2q37.3 2 241230173G> A null L F 1191 1191 missense 0.461 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs756844405 2q37.3 2 241230170T> G null N H 1192 1192 missense 0.973 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1332564266 2q37.3 2 241230169T> A null N I 1192 1192 missense 0.817 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1439250824 cosmic curated [Cosmic]: large_intestine cosmic_study:376 2q37.3 2 241230159C> G null E D 1195 1195 missense 0.598 possibly damaging 0.12 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1283414299 2q37.3 2 241230161C> G null E Q 1195 1195 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1350547252 2q37.3 2 241229958C> T null A T 1199 1199 missense 0.009 benign 0.45 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1400306870 2q37.3 2 241229955C> G null D H 1200 1200 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs766531306 2q37.3 2 241229952C> T null V M 1201 1201 missense 0.82 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1413651766 2q37.3 2 241229949C> T null V M 1202 1202 missense 0.149 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1473727691 2q37.3 2 241229943T> C null S G 1204 1204 missense 0.023 benign 0.4 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1252620242 2q37.3 2 241229942C> A null S I 1204 1204 missense 0.056 benign 0.24 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1181463892 2q37.3 2 241229940C> G null E Q 1205 1205 missense 0.666 possibly damaging 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs527489432 2q37.3 2 241229937C> G null A P 1206 1206 missense 0.373 benign 0.35 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs527489432 2q37.3 2 241229937C> A null A S 1206 1206 missense 0.015 benign 0.84 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs761944295 2q37.3 2 241229936G> A null A V 1206 1206 missense 0.003 benign 0.61 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1283598250 2q37.3 2 241229925A> G null Y H 1210 1210 missense 0.106 benign 0.23 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1574822196 2q37.3 2 241229917T> G null K N 1212 1212 missense 0.034 benign 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs149149076 2q37.3 2 241229915G> T null P H 1213 1213 missense 0.921 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs149149076 2q37.3 2 241229915G> A null P L 1213 1213 missense 0.764 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1229842354 2q37.3 2 241229916G> A null P S 1213 1213 missense 0.164 benign 0.19 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1287334000 2q37.3 2 241229913G> C null P A 1214 1214 missense 0.006 benign 0.38 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1225978697 2q37.3 2 241229909G> A null A V 1215 1215 missense 0.001 benign 0.5 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1356840824 2q37.3 2 241229907G> A null H Y 1216 1216 missense 0.007 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs776017355 2q37.3 2 241229904C> T null E K 1217 1217 missense 0.116 benign 0.38 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs376066963 2q37.3 2 241229897G> C null A G 1219 1219 missense 0.0 benign 0.25 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559468685 2q37.3 2 241229898C> T null A T 1219 1219 missense 0.001 benign 0.31 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1457573764 2q37.3 2 241229891G> C null A G 1221 1221 missense 0.0 benign 0.71 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1457573764 2q37.3 2 241229891G> A null A V 1221 1221 missense 0.005 benign 0.22 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs747771920 2q37.3 2 241229867C> A null R L 1229 1229 missense 0.961 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs747771920 2q37.3 2 241229867C> T null R Q 1229 1229 missense 0.637 possibly damaging 0.14 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs771691256 2q37.3 2 241229868G> A null R W 1229 1229 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs866303067 2q37.3 2 241229858G> A null P L 1232 1232 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs367686311 2q37.3 2 241229850C> A null A S 1235 1235 missense 0.001 benign 0.46 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs367686311 2q37.3 2 241229850C> T null A T 1235 1235 missense 0.0 benign 0.47 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,gnomAD rs200093185 2q37.3 2 241229840C> T null S N 1238 1238 0.0002 missense 0.0 benign 0.62 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs139297681 2q37.3 2 241229678T> C null M V 1244 1244 missense 0.003 benign 0.29 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs752977176 2q37.3 2 241229674C> T null S N 1245 1245 missense 0.007 benign 0.19 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1466057829 2q37.3 2 241229654T> A null S C 1252 1252 missense 0.087 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs897653883 2q37.3 2 241229653C> A null S I 1252 1252 missense 0.059 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs897653883 2q37.3 2 241229653C> G null S T 1252 1252 missense 0.047 benign 0.34 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1347863588 2q37.3 2 241229650A> C null F C 1253 1253 missense 0.754 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs755342837 2q37.3 2 241229651A> C null F V 1253 1253 missense 0.138 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1482451170 2q37.3 2 241229645C> T null A T 1255 1255 missense 0.007 benign 0.42 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs754247789 2q37.3 2 241229644G> A null A V 1255 1255 missense 0.197 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1174659237 2q37.3 2 241229642G> C null Q E 1256 1256 missense 0.003 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1202139855 2q37.3 2 241229640C> G null Q H 1256 1256 missense 0.482 possibly damaging 0.24 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1574819885 2q37.3 2 241229638A> C null V G 1257 1257 missense 0.406 benign 0.23 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1381627134 2q37.3 2 241229635G> A null A V 1258 1258 missense 0.462 possibly damaging 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs577589305 2q37.3 2 241229624G> C null L V 1262 1262 0.0002 missense 0.098 benign 0.34 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl,dbSNP rs12281 2q37.3 2 241229617C> A null W L 1264 1264 missense 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1290456784 2q37.3 2 241229608T> C null K R 1267 1267 missense 0.062 benign 0.51 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1229026680 2q37.3 2 241229606G> A null R * 1268 1268 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs762688647 2q37.3 2 241229605C> T null R Q 1268 1268 missense 0.263 benign 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1456174059 7q11.23 7 75994563G> A null P L 3 3 missense 0.169 benign 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1456174059 7q11.23 7 75994563G> C null P R 3 3 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782006094 7q11.23 7 75994564G> A null P S 3 3 missense 0.395 benign 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782783790 7q11.23 7 75994560G> A null P L 4 4 missense 0.178 benign 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781943398 7q11.23 7 75994558G> C null P A 5 5 missense 0.029 benign 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs367841388 7q11.23 7 75994557G> T null P H 5 5 missense 0.142 benign 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs367841388 7q11.23 7 75994557G> C null P R 5 5 missense 0.777 possibly damaging 0.06 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781943398 7q11.23 7 75994558G> A null P S 5 5 missense 0.108 benign 0.13 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782030674 7q11.23 7 75994554G> A null P L 6 6 missense 0.178 benign 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782030674 7q11.23 7 75994554G> C null P R 6 6 missense 0.981 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1402644247 7q11.23 7 75994551C> T null G D 7 7 missense 0.268 benign 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562779 7q11.23 7 75994548G> A null P L 8 8 missense 1.0 probably damaging 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs868981119 7q11.23 7 75994549G> A null P S 8 8 missense 0.999 probably damaging 0.19 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs868981119 7q11.23 7 75994549G> T null P T 8 8 missense 1.0 probably damaging 0.05 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs909290583 7q11.23 7 75994543C> T null G S 10 10 missense 0.664 possibly damaging 0.29 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562772 7q11.23 7 75994542C> A null G V 10 10 missense 0.991 probably damaging 0.06 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374489610 7q11.23 7 75994531G> C null R G 14 14 0.002196 missense 0.966 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782567251 7q11.23 7 75994530C> T null R Q 14 14 missense 0.41 benign 0.05 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374489610 7q11.23 7 75994531G> A null R W 14 14 0.002196 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562762 7q11.23 7 75994524C> A null W L 16 16 missense 0.979 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1259428794 7q11.23 7 75994518T> C null D G 18 18 missense 0.561 possibly damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs868916302 7q11.23 7 75994513G> C null Q E 20 20 missense 0.878 possibly damaging 1.0 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs868916302 7q11.23 7 75994513G> T null Q K 20 20 missense 0.878 possibly damaging 0.07 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs868936379 7q11.23 7 75994507C> A null D Y 22 22 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs559466676 7q11.23 7 75994502G> T null F L 23 23 0.0002 missense 0.877 possibly damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562749 7q11.23 7 75994501G> C null Q E 24 24 missense 0.155 benign 0.11 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1212705862 7q11.23 7 75994498T> C null N D 25 25 missense 0.62 possibly damaging 0.12 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782653316 7q11.23 7 75994493G> C null I M 26 26 missense 0.952 probably damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1475168133 7q11.23 7 75994491T> C null Q R 27 27 missense 0.837 possibly damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562118 7q11.23 7 75992555C> G null E D 28 28 missense 0.185 benign 0.13 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1161823601 7q11.23 7 75992556T> A null E V 28 28 missense 0.986 probably damaging 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562115 7q11.23 7 75992553G> T null T N 29 29 missense 0.261 benign 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1390539107 7q11.23 7 75992554T> G null T P 29 29 missense 0.962 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,TOPMed,gnomAD rs370222222 7q11.23 7 75992550T> C null H R 30 30 missense 0.498 possibly damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs982855347 7q11.23 7 75992547C> G null R P 31 31 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs982855347 7q11.23 7 75992547C> T null R Q 31 31 missense 0.987 probably damaging 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781814451 7q11.23 7 75992548G> A null R W 31 31 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782574941 7q11.23 7 75992539G> A null R C 34 34 missense 1.0 probably damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1026911558 7q11.23 7 75992538C> T null R H 34 34 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1026911558 7q11.23 7 75992538C> A null R L 34 34 missense 0.999 probably damaging 0.24 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1563445001 7q11.23 7 75992512G> A null L F 43 43 missense 1.0 probably damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs4732519 7q11.23 7 75992509G> A null Q * 44 44 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs4732519 7q11.23 7 75992509G> C null Q E 44 44 missense 0.995 probably damaging 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs4732519 7q11.23 7 75992509G> T null Q K 44 44 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1249562189 7q11.23 7 75992506T> C null N D 45 45 missense 0.038 benign 0.38 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1585146719 7q11.23 7 75992503T> C null N D 46 46 missense 0.62 possibly damaging 0.62 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1188055132 7q11.23 7 75992502T> C null N S 46 46 missense 0.108 benign 0.73 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782111803 7q11.23 7 75992498G> T null C * 47 47 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1257740461 7q11.23 7 75992500A> C null C G 47 47 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1257740461 7q11.23 7 75992500A> G null C R 47 47 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1421676997 7q11.23 7 75992499C> T null C Y 47 47 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs376971210 7q11.23 7 75992492G> T null S R 49 49 missense 0.948 probably damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562082 7q11.23 7 75992491A> C null S A 50 50 missense 0.174 benign 0.13 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs540771278 7q11.23 7 75992484G> A null T M 52 52 0.0002 missense 0.983 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs368355993 7q11.23 7 75992481C> A null R L 53 53 missense 0.999 probably damaging 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs368355993 7q11.23 7 75992481C> T null R Q 53 53 missense 0.999 probably damaging 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782405727 7q11.23 7 75992482G> A null R W 53 53 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1394483896 7q11.23 7 75992479G> C null Q E 54 54 missense 0.995 probably damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1312323786 7q11.23 7 75992478T> C null Q R 54 54 missense 0.998 probably damaging 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1326759436 7q11.23 7 75992473T> G null K Q 56 56 missense 1.0 probably damaging 0.07 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199834444 7q11.23 7 75992472T> C null K R 56 56 0.0002 missense 0.999 probably damaging 0.19 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs781983762 7q11.23 7 75992469C> T null R Q 57 57 missense 0.055 benign 0.08 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1272305390 7q11.23 7 75992470G> A null R W 57 57 missense 0.982 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782353976 7q11.23 7 75992458G> T null L M 61 61 missense 0.918 probably damaging 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782200874 7q11.23 7 75992454G> C null A G 62 62 missense 0.132 benign 0.11 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1011359693 7q11.23 7 75992449C> T null A T 64 64 missense 0.163 benign 1.0 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562061 7q11.23 7 75992445A> C null L R 65 65 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562060 7q11.23 7 75992443T> C null K E 66 66 missense 0.96 probably damaging 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782361216 7q11.23 7 75992257G> C null C W 68 68 missense 0.995 probably damaging 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1473625652 7q11.23 7 75992258C> T null C Y 68 68 missense 0.986 probably damaging 0.71 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs149750507 7q11.23 7 75992253G> T null P T 70 70 0.01038 missense 0.748 possibly damaging 0.25 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs371384423 7q11.23 7 75992249G> A null S F 71 71 missense 0.99 probably damaging 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs371384423 7q11.23 7 75992249G> T null S Y 71 71 missense 0.99 probably damaging 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,gnomAD rs368479303 7q11.23 7 75992243G> A null P L 73 73 missense 0.127 benign 0.11 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782449232 7q11.23 7 75992231T> C null E G 77 77 missense 0.458 possibly damaging 0.15 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs374738520 7q11.23 7 75992232C> T null E K 77 77 missense 0.066 benign 0.54 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554561979 7q11.23 7 75992229C> G null G R 78 78 missense 0.343 benign 0.21 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1347949322 7q11.23 7 75992225G> A null A V 79 79 missense 0.925 probably damaging 0.41 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782820867 7q11.23 7 75992223C> T null A T 80 80 missense 0.41 benign 0.09 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554561970 7q11.23 7 75992222G> A null A V 80 80 missense 0.261 benign 1.0 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl,dbSNP rs17852664 pubmed:15489334 7q11.23 7 75992204T> C null Q R 86 86 missense 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782150303 7q11.23 7 75992201A> C null M R 87 87 missense 0.343 benign 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs782753035 7q11.23 7 75992195T> C null E G 89 89 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs201059329 7q11.23 7 75992193G> A null R C 90 90 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782756092 7q11.23 7 75992192C> T null R H 90 90 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782756092 7q11.23 7 75992192C> G null R P 90 90 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554561953 7q11.23 7 75992186C> G null G A 92 92 missense 0.967 probably damaging 0.48 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781949687 7q11.23 7 75992172T> C null M V 97 97 missense 0.992 probably damaging 0.07 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554561949 7q11.23 7 75992168T> C null E G 98 98 missense 0.999 probably damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782309975 7q11.23 7 75992165G> C null A G 99 99 missense 0.96 probably damaging 0.06 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1275990997 7q11.23 7 75992149C> A null K N 104 104 missense 0.933 probably damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs868972984 7q11.23 7 75989221C> A null L F 107 107 missense 0.979 probably damaging 0.1 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1445987420 7q11.23 7 75989222A> G null L S 107 107 missense 0.958 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554561311 7q11.23 7 75989220A> G null Y H 108 108 missense 0.983 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781982538 7q11.23 7 75989211G> C null L V 111 111 missense 0.953 probably damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554561307 7q11.23 7 75989202C> A null G W 114 114 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs531304901 7q11.23 7 75989196C> T null V I 116 116 0.000399 missense 0.935 probably damaging 0.12 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,TOPMed,gnomAD rs371074253 7q11.23 7 75989192T> C null N S 117 117 missense 0.327 benign 0.18 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1260448124 7q11.23 7 75989189A> C null V G 118 118 missense 0.979 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782307627 7q11.23 7 75989190C> T null V I 118 118 missense 0.955 probably damaging 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782307627 7q11.23 7 75989190C> G null V L 118 118 missense 0.948 probably damaging 0.07 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs567816984 7q11.23 7 75989186G> A null T M 119 119 0.0002 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1256870328 7q11.23 7 75989175T> C null K E 123 123 missense 0.909 probably damaging 0.09 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554561291 7q11.23 7 75989171T> G null Q P 124 124 missense 0.974 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs868912455 7q11.23 7 75989168G> T null A D 125 125 missense 1.0 probably damaging 0.31 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs916296075 7q11.23 7 75989165T> C null K R 126 126 missense 0.395 benign 0.24 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560801 7q11.23 7 75988508T> C null Y C 129 129 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560798 7q11.23 7 75988506T> C null K E 130 130 missense 0.968 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140919124 7q11.23 7 75988501G> T null D E 131 131 0.0002 missense 0.931 probably damaging 0.09 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140919124 7q11.23 7 75988501G> C null D E 131 131 0.0002 missense 0.931 probably damaging 0.09 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782766666 7q11.23 7 75988500C> A null E * 132 132 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1585141203 7q11.23 7 75988498C> G null E D 132 132 missense 0.967 probably damaging 0.13 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782766666 7q11.23 7 75988500C> T null E K 132 132 missense 0.98 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782107848 7q11.23 7 75988493T> G null E A 134 134 missense 0.909 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs781959690 7q11.23 7 75988490T> C null K R 135 135 missense 0.951 probably damaging 0.07 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560793 7q11.23 7 75988485T> C null K E 137 137 missense 0.827 possibly damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782717399 7q11.23 7 75988482G> C null L V 138 138 missense 0.937 probably damaging 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1016885882 7q11.23 7 75988478T> G null Y S 139 139 missense 0.962 probably damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560781 7q11.23 7 75988476G> T null L I 140 140 missense 0.45 possibly damaging 0.07 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560781 7q11.23 7 75988476G> C null L V 140 140 missense 0.451 possibly damaging 0.2 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1396371148 7q11.23 7 75988470T> C null I V 142 142 missense 0.878 possibly damaging 0.18 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1364081163 7q11.23 7 75988451G> C null S C 148 148 missense 0.99 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372405984 7q11.23 7 75988448A> C null F C 149 149 0.000399 missense 0.987 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782560822 7q11.23 7 75988443A> T null C S 151 151 missense 0.966 probably damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782555331 7q11.23 7 75988440G> A null R C 152 152 missense 0.999 probably damaging 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782279908 7q11.23 7 75988439C> T null R H 152 152 missense 0.999 probably damaging 0.09 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782501281 7q11.23 7 75988424G> A null S F 157 157 missense 0.974 probably damaging 0.24 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781942050 7q11.23 7 75988340C> T null V M 159 159 missense 0.964 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560712 7q11.23 7 75988336G> A null T I 160 160 missense 0.805 possibly damaging 0.13 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782310318 7q11.23 7 75988321T> C null N S 165 165 missense 0.792 possibly damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782372847 7q11.23 7 75988303T> C null Y C 171 171 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782229519 7q11.23 7 75988297C> T null C Y 173 173 missense 0.983 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1189157008 7q11.23 7 75988294G> A null T I 174 174 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782464296 7q11.23 7 75988291A> G null L P 175 175 missense 0.996 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560704 7q11.23 7 75988289T> C null T A 176 176 missense 0.907 possibly damaging 0.05 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs200635965 7q11.23 7 75988282C> A null R L 178 178 missense 0.419 benign 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs200635965 7q11.23 7 75988282C> T null R Q 178 178 missense 0.976 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs372926266 7q11.23 7 75988283G> A null R W 178 178 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs369106841 7q11.23 7 75988277T> C null S G 180 180 missense 0.209 benign 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560696 7q11.23 7 75988276C> G null S T 180 180 missense 0.909 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1350140598 7q11.23 7 75988273A> G null I T 181 181 missense 0.917 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782713297 7q11.23 7 75988271G> A null L F 182 182 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782051407 7q11.23 7 75988270A> G null L P 182 182 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782810677 7q11.23 7 75988267A> G null I T 183 183 missense 0.966 probably damaging 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1554560687 7q11.23 7 75988265T> C null N D 184 184 missense 0.909 probably damaging 0.05 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782136567 7q11.23 7 75988264T> C null N S 184 184 missense 0.327 benign 1.0 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782345420 7q11.23 7 75988259C> T null G S 186 186 missense 0.986 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782409607 7q11.23 7 75988252C> T null R Q 188 188 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs556085933 7q11.23 7 75988253G> A null R W 188 188 0.0002 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs373139417 7q11.23 7 75988248C> T null W * 189 189 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,gnomAD rs534499056 7q11.23 7 75988249C> T null W * 189 189 0.0002 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782635915 7q11.23 7 75988250A> C null W G 189 189 missense 0.001 benign 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782635915 7q11.23 7 75988250A> G null W R 189 189 missense 0.003 benign 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,gnomAD rs534499056 7q11.23 7 75988249C> G null W S 189 189 0.0002 missense 0.001 benign 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782460399 7q11.23 7 75988246G> T null A E 190 190 missense 0.009 benign 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782460399 7q11.23 7 75988246G> C null A G 190 190 missense 0.04 benign 0.05 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560674 7q11.23 7 75988247C> T null A T 190 190 missense 0.054 benign 0.05 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782460399 7q11.23 7 75988246G> A null A V 190 190 missense 0.054 benign 0.06 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1250391092 7q11.23 7 75988244C> T null G R 191 191 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1028117665 7q11.23 7 75988240C> T null R Q 192 192 missense 0.0 unknown 0.06 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs374980586 7q11.23 7 75988241G> A null R W 192 192 missense 0.0 unknown 0.09 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs368177681 7q11.23 7 75988238C> T null A T 193 193 missense 0.0 unknown 0.07 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560663 7q11.23 7 75988234A> T null L Q 194 194 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560659 7q11.23 7 75988228T> C null E G 196 196 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782743996 7q11.23 7 75988225C> T null G E 197 197 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs781874900 7q11.23 7 75988226C> T null G R 197 197 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782080464 7q11.23 7 75988222C> T null S N 198 198 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,gnomAD rs551699229 7q11.23 7 75988218C> T null M I 199 199 0.0002 missense 0.0 unknown 0.09 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1563440220 7q11.23 7 75988219A> G null M T 199 199 missense 0.0 unknown 0.24 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs370443613 7q11.23 7 75988212C> T null W * 201 201 0.000399 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl,dbSNP rs17855697 pubmed:15489334 7q11.23 7 75988111T> C null T A 201 201 missense 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142196931 7q11.23 7 75988214A> G null W R 201 201 0.002196 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782006582 7q11.23 7 75988211C> T null G S 202 202 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782234411 7q11.23 7 75988208C> T null A T 203 203 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs781974824 7q11.23 7 75988207G> A null A V 203 203 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC rs782205966 7q11.23 7 75988202T> C null T A 205 205 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1314409830 7q11.23 7 75988199G> A null L F 206 206 missense 0.0 unknown 0.17 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782575102 7q11.23 7 75988198A> C null L R 206 206 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372363121 7q11.23 7 75988195C> G null R P 207 207 0.0002 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372363121 7q11.23 7 75988195C> T null R Q 207 207 0.0002 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1044127445 7q11.23 7 75988196G> A null R W 207 207 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560626 7q11.23 7 75988183G> A null T I 211 211 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs782604571 7q11.23 7 75988181C> T null G S 212 212 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs371798181 7q11.23 7 75988178C> T null A T 213 213 missense 0.0 unknown 0.17 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560610 7q11.23 7 75988174C> G null G A 214 214 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs185977178 7q11.23 7 75988172C> T null G S 215 215 0.0002 missense 0.0 unknown 0.06 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781896643 7q11.23 7 75988171C> A null G V 215 215 missense 0.0 unknown 0.17 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1563440073 7q11.23 7 75988162C> T null G D 218 218 missense 0.0 unknown 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560600 7q11.23 7 75988163C> T null G S 218 218 missense 0.0 unknown 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368049231 7q11.23 7 75988160A> C null S A 219 219 0.0002 missense 0.0 unknown 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782122031 7q11.23 7 75988159G> A null S F 219 219 missense 0.0 unknown 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560592 7q11.23 7 75988154G> A null L F 221 221 missense 0.0 unknown 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560590 7q11.23 7 75988151G> A null Q * 222 222 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1209911483 7q11.23 7 75988150T> G null Q P 222 222 missense 0.0 unknown 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560580 7q11.23 7 75988146A> T null D E 223 223 missense 0.0 unknown 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782743658 7q11.23 7 75988148C> T null D N 223 223 missense 0.0 unknown 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560577 7q11.23 7 75988145G> C null Q E 224 224 missense 0.0 unknown 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1585140421 7q11.23 7 75988135A> C null V G 227 227 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1184812309 7q11.23 7 75988136C> G null V L 227 227 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1184812309 7q11.23 7 75988136C> T null V M 227 227 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1389635118 7q11.23 7 75988132C> G null G A 228 228 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1389635118 7q11.23 7 75988132C> T null G D 228 228 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560558 7q11.23 7 75988129A> G null V A 229 229 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560560 7q11.23 7 75988130C> T null V I 229 229 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782085273 7q11.23 7 75988127G> A null P S 230 230 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373610271 7q11.23 7 75988118G> A null R C 233 233 0.000399 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs199749808 7q11.23 7 75988117C> T null R H 233 233 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs17855697 7q11.23 7 75988111T> G null H P 235 235 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs201406245 7q11.23 7 75988112G> A null H Y 235 235 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782018052 7q11.23 7 75988109G> A null L F 236 236 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560546 7q11.23 7 75988108A> G null L P 236 236 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1413678225 7q11.23 7 75988105G> A null P L 237 237 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs376297554 7q11.23 7 75988100C> T null G R 239 239 missense 0.0 unknown 0.14 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782318093 7q11.23 7 75988091C> T null A T 242 242 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560542 7q11.23 7 75988088C> T null D N 243 243 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374331144 7q11.23 7 75988085C> T null V M 244 244 0.0002 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs376995698 7q11.23 7 75987981G> A null R * 246 246 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs781876346 7q11.23 7 75987980C> G null R P 246 246 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs781876346 7q11.23 7 75987980C> T null R Q 246 246 missense 0.0 unknown 0.61 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782491183 7q11.23 7 75987978G> C null R G 247 247 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs372514117 7q11.23 7 75987977C> T null R Q 247 247 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782491183 7q11.23 7 75987978G> A null R W 247 247 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782704684 7q11.23 7 75987975A> G null S P 248 248 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782158646 7q11.23 7 75987971T> C null H R 249 249 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC rs781967880 7q11.23 7 75987968A> G null V A 250 250 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782111928 7q11.23 7 75987969C> T null V I 250 250 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782111928 7q11.23 7 75987969C> A null V L 250 250 missense 0.0 unknown 0.64 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560418 7q11.23 7 75987963C> T null E K 252 252 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs888199370 7q11.23 7 75987956G> A null P L 254 254 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs888199370 7q11.23 7 75987956G> T null P Q 254 254 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1162088558 7q11.23 7 75987948T> G null I L 257 257 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1048049957 7q11.23 7 75987942G> A null L F 259 259 missense 0.0 unknown 0.12 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1048049957 7q11.23 7 75987942G> C null L V 259 259 missense 0.0 unknown 0.14 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560405 7q11.23 7 75987933G> A null H Y 262 262 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs782693536 7q11.23 7 75987930C> T null V I 263 263 missense 0.0 unknown 0.63 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560399 7q11.23 7 75987923T> C null E G 265 265 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs555840167 7q11.23 7 75987806G> A null R C 267 267 0.0002 missense 0.0 unknown 0.61 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782572304 7q11.23 7 75987805C> T null R H 267 267 missense 0.0 unknown 0.22 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560334 7q11.23 7 75987800C> G null V L 269 269 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560330 7q11.23 7 75987796G> A null S F 270 270 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,TOPMed rs374150422 7q11.23 7 75987794G> C null P A 271 271 missense 0.0 unknown 1.0 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781909858 7q11.23 7 75987784A> G null L P 274 274 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1230728714 7q11.23 7 75987782G> A null P S 275 275 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs543501547 7q11.23 7 75987775C> T null R Q 277 277 missense 0.0 unknown 0.15 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782801337 7q11.23 7 75987776G> A null R W 277 277 missense 0.0 unknown 0.07 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560306 7q11.23 7 75987770G> A null P S 279 279 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC rs781853213 7q11.23 7 75987766A> G null L P 280 280 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782082182 7q11.23 7 75987763G> A null P L 281 281 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782763009 7q11.23 7 75987764G> A null P S 281 281 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs781943871 7q11.23 7 75987757G> A null A V 283 283 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1193775361 7q11.23 7 75987755C> T null G S 284 284 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs376483231 7q11.23 7 75987751G> T null A D 285 285 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781997749 7q11.23 7 75987752C> T null A T 285 285 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs376483231 7q11.23 7 75987751G> A null A V 285 285 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782220788 7q11.23 7 75987746G> A null R * 287 287 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782587381 7q11.23 7 75987745C> T null R Q 287 287 missense 0.0 unknown 0.15 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374985692 7q11.23 7 75987742G> A null A V 288 288 0.0002 missense 0.0 unknown 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782543570 7q11.23 7 75987739G> T null A E 289 289 missense 0.0 unknown 1.0 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1454682552 7q11.23 7 75987737G> T null H N 290 290 missense 0.0 unknown 0.69 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1454682552 7q11.23 7 75987737G> A null H Y 290 290 missense 0.0 unknown 0.09 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,gnomAD rs566879698 7q11.23 7 75987734G> A null H Y 291 291 0.0002 missense 0.0 unknown 0.17 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560282 7q11.23 7 75987730C> T null G E 292 292 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1161992953 7q11.23 7 75987727G> C null P R 293 293 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782633931 7q11.23 7 75987725G> A null H Y 294 294 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782480607 7q11.23 7 75987719C> T null G R 296 296 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1251507828 7q11.23 7 75987601C> T null G R 297 297 missense 0.0 unknown 0.3 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560198 7q11.23 7 75987595G> A null P S 299 299 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782117913 7q11.23 7 75987591A> C null V G 300 300 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs377729252 7q11.23 7 75987592C> T null V I 300 300 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs781935263 7q11.23 7 75987586C> G null D H 302 302 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs781935263 7q11.23 7 75987586C> T null D N 302 302 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs62475303 7q11.23 7 75987583C> T null V M 303 303 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781973486 7q11.23 7 75987579G> A null A V 304 304 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs373027190 7q11.23 7 75987577C> T null G R 305 305 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1554560180 7q11.23 7 75987574G> C null P A 306 306 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1422107927 7q11.23 7 75987571G> T null H N 307 307 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1585139172 7q11.23 7 75987570T> G null H P 307 307 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1164198145 7q11.23 7 75987569G> C null H Q 307 307 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1422107927 7q11.23 7 75987571G> A null H Y 307 307 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782398579 7q11.23 7 75987568G> A null L F 308 308 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560173 7q11.23 7 75987567A> T null L H 308 308 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560173 7q11.23 7 75987567A> G null L P 308 308 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782252864 7q11.23 7 75987565G> A null P S 309 309 missense 0.0 unknown 0.15 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782618758 7q11.23 7 75987562C> G null A P 310 310 missense 0.0 unknown 0.67 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1369706656 7q11.23 7 75987558G> A null A V 311 311 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560168 7q11.23 7 75987556A> G null F L 312 312 missense 0.0 unknown 0.15 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782489821 7q11.23 7 75987554A> C null F L 312 312 missense 0.0 unknown 0.15 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1304485482 7q11.23 7 75987552G> A null S F 313 313 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1376951671 7q11.23 7 75987550A> G null F L 314 314 missense 0.0 unknown 0.5 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1563438991 7q11.23 7 75987547G> A null L F 315 315 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1227200385 7q11.23 7 75987543C> T null W * 316 316 missense 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1004365572 7q11.23 7 75987538G> A null L F 318 318 missense 0.0 unknown 0.84 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs868984702 7q11.23 7 75987422G> T null A E 320 320 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560087 7q11.23 7 75987415A> C null F L 322 322 missense 0.0 unknown 0.91 tolerated - low confidence 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs371917521 11q13.1 11 64878484G> C null A G 8 8 missense 0.012 benign 0.24 tolerated - low confidence 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs942189964 11q13.1 11 64878478G> T null P H 10 10 missense 0.0 benign 0.04 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1163371888 11q13.1 11 64878472G> T null S Y 12 12 missense 0.0 benign 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1403765042 11q13.1 11 64878470C> G null G R 13 13 missense 0.0 benign 0.41 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1403765042 11q13.1 11 64878470C> T null G S 13 13 missense 0.009 benign 0.49 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1178528796 11q13.1 11 64878456G> C null S R 17 17 missense 0.491 possibly damaging 0.21 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1051310913 11q13.1 11 64878454C> T null W * 18 18 stop gained 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs138083441 11q13.1 11 64878448C> T null S N 20 20 missense 0.0 benign 0.54 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1369058183 11q13.1 11 64878439G> A null A V 23 23 missense 0.049 benign 0.19 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1179129822 11q13.1 11 64878437G> A null R C 24 24 missense 0.453 possibly damaging 0.06 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs775447750 11q13.1 11 64878434G> A null R C 25 25 missense 0.648 possibly damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1565726965 11q13.1 11 64878418T> G null E A 30 30 missense 0.997 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1179575966 11q13.1 11 64878416G> C null L V 31 31 missense 0.358 benign 1.0 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs988164257 11q13.1 11 64878412A> C null F C 32 32 missense 0.919 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs988164257 11q13.1 11 64878412A> G null F S 32 32 missense 0.697 possibly damaging 0.04 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1358656321 11q13.1 11 64878406G> A null T M 34 34 missense 0.888 possibly damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1324979330 11q13.1 11 64878397T> A null E V 37 37 missense 0.127 benign 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1260210131 11q13.1 11 64878394C> T null G E 38 38 missense 1.0 probably damaging 0.09 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP rs145554262 11q13.1 11 64878392G> C null L V 39 39 missense 0.997 probably damaging 0.04 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs760385045 11q13.1 11 64878388C> T null R Q 40 40 missense 0.135 benign 0.16 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1308017189 11q13.1 11 64878385T> C null Q R 41 41 missense 0.0 benign 0.36 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs772785137 11q13.1 11 64878383G> C null L V 42 42 missense 0.997 probably damaging 0.1 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1338503780 11q13.1 11 64878379T> C null Y C 43 43 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs749640201 11q13.1 11 64878376G> C null A G 44 44 missense 0.068 benign 0.09 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs749640201 11q13.1 11 64878376G> A null A V 44 44 missense 0.04 benign 0.11 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs780540022 11q13.1 11 64878373T> C null Q R 45 45 missense 0.023 benign 0.46 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1181843765 11q13.1 11 64878365G> T null L I 48 48 missense 0.138 benign 0.04 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs770278119 11q13.1 11 64878361G> T null P H 49 49 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,gnomAD rs527316623 11q13.1 11 64878358A> C null L R 50 50 0.0002 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1592757060 11q13.1 11 64878349T> A null H L 53 53 missense 0.009 benign 0.65 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1241683742 11q13.1 11 64878346T> C null Y C 54 54 missense 0.967 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs781223385 11q13.1 11 64878343C> T null R H 55 55 missense 0.013 benign 0.14 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs781223385 11q13.1 11 64878343C> A null R L 55 55 missense 0.313 benign 0.43 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1270521302 11q13.1 11 64878339G> C null F L 56 56 missense 0.412 benign 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs941501200 11q13.1 11 64878333C> G null E D 58 58 missense 0.003 benign 1.0 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,gnomAD rs564948518 11q13.1 11 64878330G> C null F L 59 59 0.0002 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs758153764 11q13.1 11 64878313T> C null E G 65 65 missense 0.998 probably damaging 0.09 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,gnomAD rs371914053 11q13.1 11 64878303G> C null D E 68 68 missense 0.997 probably damaging 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1316872445 11q13.1 11 64878299C> A null D Y 70 70 missense 0.713 possibly damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1246454849 11q13.1 11 64878295T> C null N S 71 71 missense 0.017 benign 0.36 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1383361008 11q13.1 11 64878285C> T null M I 74 74 missense 0.98 probably damaging 0.09 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs765192562 11q13.1 11 64878287T> G null M L 74 74 missense 0.924 probably damaging 0.05 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs765192562 11q13.1 11 64878287T> C null M V 74 74 missense 0.968 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs963829661 11q13.1 11 64878284C> T null V M 75 75 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs759533960 11q13.1 11 64878277A> G null L P 77 77 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1422352959 11q13.1 11 64878275C> G null V L 78 78 missense 0.997 probably damaging 0.27 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs3205255 11q13.1 11 64878272C> T null G R 79 79 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs765959999 11q13.1 11 64878267C> A null Q H 80 80 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs765959999 11q13.1 11 64878267C> G null Q H 80 80 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs760138247 11q13.1 11 64878266A> T null Y N 81 81 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1018105660 11q13.1 11 64878262C> G null S T 82 82 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1263992665 cosmic curated [Cosmic]: pancreas pubmed:24293293,cosmic_study:529 11q13.1 11 64878259G> A null T M 83 83 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1221915586 11q13.1 11 64878256C> G null G A 84 84 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1489904051 11q13.1 11 64878245A> C null F V 88 88 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1279002972 11q13.1 11 64878242T> A null I F 89 89 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs771639688 11q13.1 11 64878235T> C null H R 91 91 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1314190383 11q13.1 11 64878236G> A null H Y 91 91 missense 0.995 probably damaging 1.0 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1008556692 11q13.1 11 64878230T> G null I L 93 93 missense 0.001 benign 1.0 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,gnomAD rs200295706 11q13.1 11 64878225C> A null E D 94 94 0.0002 missense 0.995 probably damaging 0.17 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs368813242 11q13.1 11 64878219G> C null D E 96 96 missense 0.997 probably damaging 0.26 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1229517334 cosmic curated [Cosmic]: kidney cosmic_study:416 11q13.1 11 64878214G> A null P L 98 98 missense 1.0 probably damaging 0.02 deleterious 1 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1047130806 11q13.1 11 64878205C> A null R L 101 101 missense 0.998 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs770189746 11q13.1 11 64878199C> T null G E 103 103 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs770189746 11q13.1 11 64878199C> A null G V 103 103 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,gnomAD rs531929623 11q13.1 11 64878191G> A null P S 106 106 0.0002 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1396188944 11q13.1 11 64878170C> A null A S 113 113 missense 0.999 probably damaging 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs777987078 11q13.1 11 64878166A> T null V D 114 114 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1476665692 11q13.1 11 64878162C> T null M I 115 115 missense 0.98 probably damaging 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1303588860 11q13.1 11 64878164T> G null M L 115 115 missense 0.924 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs937096645 11q13.1 11 64878158C> A null G C 117 117 missense 0.98 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1424987063 11q13.1 11 64878157C> T null G D 117 117 missense 0.935 probably damaging 0.11 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs758546434 11q13.1 11 64878148T> G null E A 120 120 missense 0.341 benign 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1479513414 11q13.1 11 64878146C> T null G S 121 121 missense 1.0 probably damaging 0.16 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1271251677 11q13.1 11 64878145C> A null G V 121 121 missense 1.0 probably damaging 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs753021444 11q13.1 11 64878136G> C null P R 124 124 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs778829881 11q13.1 11 64878133C> A null G V 125 125 missense 0.086 benign 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,gnomAD rs542855298 11q13.1 11 64878130T> C null N S 126 126 0.0002 missense 0.017 benign 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs766444274 11q13.1 11 64878124A> G null L P 128 128 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1275257456 11q13.1 11 64878125G> C null L V 128 128 missense 0.997 probably damaging 0.14 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,TOPMed,gnomAD rs140984667 11q13.1 11 64878118A> G null V A 130 130 missense 0.995 probably damaging 0.04 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1274970504 11q13.1 11 64878119C> A null V L 130 130 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1333678998 11q13.1 11 64878112G> A null P L 132 132 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1412002967 11q13.1 11 64878103G> A null P L 135 135 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1565726582 11q13.1 11 64878098G> C null R G 137 137 missense 0.998 probably damaging 0.09 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1468744839 11q13.1 11 64878097C> A null R L 137 137 missense 0.998 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1191907896 11q13.1 11 64878093C> G null K N 138 138 missense 0.999 probably damaging 1.0 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,gnomAD rs375310103 11q13.1 11 64878094T> C null K R 138 138 missense 0.997 probably damaging 0.45 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs765545026 11q13.1 11 64878092G> A null L F 139 139 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs759915884 11q13.1 11 64878088T> C null N S 140 140 missense 0.015 benign 1.0 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1183675105 11q13.1 11 64878079C> T null G D 143 143 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1242352044 11q13.1 11 64878075G> T null N K 144 144 missense 0.744 possibly damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1458065227 11q13.1 11 64878076T> C null N S 144 144 missense 0.275 benign 0.11 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1201657003 11q13.1 11 64878074C> A null A S 145 145 missense 0.049 benign 0.42 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1201657003 11q13.1 11 64878074C> T null A T 145 145 missense 0.498 possibly damaging 0.24 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs777063700 11q13.1 11 64878073G> A null A V 145 145 missense 0.648 possibly damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1196925130 11q13.1 11 64878068G> A null L F 147 147 missense 0.843 possibly damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1565726549 11q13.1 11 64878063G> C null N K 148 148 missense 0.183 benign 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs763748125 11q13.1 11 64874514T> A null M L 151 151 missense 0.015 benign 0.06 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs763748125 11q13.1 11 64874514T> C null M V 151 151 missense 0.001 benign 0.2 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1303958442 11q13.1 11 64874511A> T null C S 152 152 missense 0.996 probably damaging 0.04 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1373037767 11q13.1 11 64874508C> T null A T 153 153 missense 0.998 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1300193499 11q13.1 11 64874505G> A null Q * 154 154 stop gained 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs117115792 11q13.1 11 64874502G> C null L V 155 155 0.0002 missense 0.412 benign 0.42 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs773811724 11q13.1 11 64874495T> C null N S 157 157 missense 0.995 probably damaging 0.8 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs773811724 11q13.1 11 64874495T> G null N T 157 157 missense 0.997 probably damaging 0.13 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs748263460 11q13.1 11 64874493G> C null P A 158 158 missense 0.015 benign 0.08 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs748263460 11q13.1 11 64874493G> T null P T 158 158 missense 0.341 benign 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs914599045 11q13.1 11 64874490C> T null V I 159 159 missense 0.996 probably damaging 0.09 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs139892854 11q13.1 11 64874487G> C null L V 160 160 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1216773151 11q13.1 11 64874474C> T null S N 164 164 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,gnomAD rs202024706 11q13.1 11 64874472T> C null I V 165 165 0.0002 missense 0.982 probably damaging 0.11 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1565724936 11q13.1 11 64874459G> C null P R 169 169 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC rs755974607 11q13.1 11 64874457C> A null G W 170 170 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1214494513 11q13.1 11 64874442C> T null E K 175 175 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1280108235 11q13.1 11 64874432C> T null R Q 178 178 missense 0.435 benign 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs745749443 11q13.1 11 64874433G> A null R W 178 178 missense 0.957 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs921754810 11q13.1 11 64874426C> T null S N 180 180 missense 0.019 benign 0.27 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs370682065 11q13.1 11 64860336C> T null G D 182 182 missense 0.89 possibly damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs913639525 11q13.1 11 64860333T> C null Y C 183 183 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1333087395 11q13.1 11 64860321G> A null A V 187 187 missense 0.998 probably damaging 0.05 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs777243803 cosmic curated [Cosmic]: prostate pubmed:22610119,cosmic_study:392 11q13.1 11 64860319C> T null V I 188 188 missense 0.996 probably damaging 0.04 deleterious 1 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1458316923 11q13.1 11 64860303G> C null A G 193 193 missense 0.999 probably damaging 0.05 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs372656658 11q13.1 11 64860304C> T null A T 193 193 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1458316923 11q13.1 11 64860303G> A null A V 193 193 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1592746881 11q13.1 11 64860300T> C null E G 194 194 missense 0.998 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs576058223 11q13.1 11 64860297C> T null R H 195 195 0.0002 missense 0.999 probably damaging 0.05 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs897861323 11q13.1 11 64860295C> T null V M 196 196 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1592746866 11q13.1 11 64860291T> C null D G 197 197 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs144337563 11q13.1 11 64860289G> A null R C 198 198 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs747628133 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 11q13.1 11 64860288C> T null R H 198 198 missense 0.999 probably damaging 0.02 deleterious 1 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs763144350 11q13.1 11 64860271C> T null D N 204 204 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1254688704 11q13.1 11 64860259G> C null L V 208 208 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs759743110 11q13.1 11 64860251G> C null I M 210 210 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1260263823 11q13.1 11 64860250A> C null S A 211 211 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1478914927 11q13.1 11 64860247C> T null D N 212 212 missense 0.998 probably damaging 0.06 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs771522896 11q13.1 11 64860242C> A null E D 213 213 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs746917690 11q13.1 11 64860244C> T null E K 213 213 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1380441842 11q13.1 11 64860240A> T null F Y 214 214 missense 0.992 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1314796245 11q13.1 11 64860237G> A null S L 215 215 missense 0.997 probably damaging 0.09 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,gnomAD rs370296006 11q13.1 11 64860233T> G null E D 216 216 missense 0.028 benign 0.05 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1334634628 11q13.1 11 64860227G> C null I M 218 218 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC rs754658374 11q13.1 11 64860229T> C null I V 218 218 missense 0.982 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs753495293 11q13.1 11 64860223C> T null A T 220 220 missense 0.279 benign 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1360778451 11q13.1 11 64860220G> C null L V 221 221 missense 0.997 probably damaging 0.04 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs781659919 11q13.1 11 64860214T> C null N D 223 223 missense 0.755 possibly damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1412897403 11q13.1 11 64860208C> T null E K 225 225 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs764708094 11q13.1 11 64860204T> C null D G 226 226 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs752061690 11q13.1 11 64860205C> T null D N 226 226 missense 0.998 probably damaging 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,gnomAD rs150536999 11q13.1 11 64860201T> C null K R 227 227 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs368130910 11q13.1 11 64860196G> A null R C 229 229 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs764527030 11q13.1 11 64860195C> T null R H 229 229 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1592746754 11q13.1 11 64860193C> T null V M 230 230 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1565718120 11q13.1 11 64860178C> T null A T 235 235 missense 0.72 possibly damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1339079513 11q13.1 11 64860170C> G null Q H 237 237 missense 0.998 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs938894652 11q13.1 11 64860169T> C null I V 238 238 missense 0.982 probably damaging 1.0 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs374651114 11q13.1 11 64860166C> T null E K 239 239 missense 0.157 benign 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1353963733 11q13.1 11 64860163T> C null T A 240 240 missense 0.995 probably damaging 0.64 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs772683924 cosmic curated [Cosmic]: breast cosmic_study:414 11q13.1 11 64860162G> A null T M 240 240 missense 0.999 probably damaging 0.18 tolerated 1 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs199636551 11q13.1 11 64860160G> A null Q * 241 241 stop gained 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1292743440 11q13.1 11 64860149C> T null M I 244 244 missense 0.98 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1325840009 11q13.1 11 64860151T> A null M L 244 244 missense 0.924 probably damaging 0.1 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs766122136 11q13.1 11 64860148G> C null R G 245 245 missense 0.65 possibly damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs766122136 11q13.1 11 64860148G> A null R W 245 245 missense 0.015 benign 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1592746701 11q13.1 11 64860144A> C null V G 246 246 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs142323286 11q13.1 11 64860145C> G null V L 246 246 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs142323286 11q13.1 11 64860145C> A null V L 246 246 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs772003242 11q13.1 11 64860139C> T null G R 248 248 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1389025678 11q13.1 11 64860130T> C null M V 251 251 missense 0.968 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs989198708 11q13.1 11 64860127A> G null W R 252 252 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs748105429 11q13.1 11 64860117C> T null G D 255 255 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs936411919 11q13.1 11 64860118C> T null G S 255 255 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1373015261 11q13.1 11 64860111A> G null I T 257 257 missense 0.996 probably damaging 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1478857913 cosmic curated [Cosmic]: pancreas cosmic_study:328 11q13.1 11 64860109T> C null I V 258 258 missense 0.007 benign 0.51 tolerated 1 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs748926280 11q13.1 11 64860102G> A null T I 260 260 missense 0.839 possibly damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1592746670 11q13.1 11 64860103T> G null T P 260 260 missense 0.877 possibly damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1290798473 11q13.1 11 64860087C> T null R K 265 265 missense 0.992 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs758930905 11q13.1 11 64860078A> C null I S 268 268 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1256112036 11q13.1 11 64860079T> C null I V 268 268 missense 0.982 probably damaging 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs765330673 11q13.1 11 64860076C> T null G S 269 269 missense 1.0 probably damaging 0.06 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs754012326 11q13.1 11 64860073A> T null S T 270 270 missense 0.992 probably damaging 0.04 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1436803458 11q13.1 11 64860072G> T null S Y 270 270 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs766603148 11q13.1 11 64860070A> G null F L 271 271 missense 0.992 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs760398339 11q13.1 11 64860065C> G null W C 272 272 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1592746611 11q13.1 11 64860060T> G null H P 274 274 missense 0.281 benign 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ESP,ExAC,gnomAD rs137874978 11q13.1 11 64860057G> A null P L 275 275 0.0002 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs772990090 11q13.1 11 64860058G> A null P S 275 275 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs774181653 11q13.1 11 64860055G> C null L V 276 276 missense 0.997 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1477129904 11q13.1 11 64860052G> A null L F 277 277 missense 0.877 possibly damaging 0.71 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1248674937 11q13.1 11 64860048A> T null I N 278 278 missense 0.894 possibly damaging 0.32 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs376041030 11q13.1 11 64860046G> A null P S 279 279 missense 0.358 benign 0.36 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs910736633 11q13.1 11 64860043C> T null D N 280 280 missense 0.663 possibly damaging 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs745572506 11q13.1 11 64860039T> C null N S 281 281 missense 0.995 probably damaging 0.05 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,gnomAD rs145274478 11q13.1 11 64860037G> A null R C 282 282 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs758729682 11q13.1 11 64860036C> T null R H 282 282 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,gnomAD rs145274478 11q13.1 11 64860037G> T null R S 282 282 missense 0.998 probably damaging 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1237944390 11q13.1 11 64860019C> T null E K 288 288 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1376582279 11q13.1 11 64860012T> C null Q R 290 290 missense 0.287 benign 0.27 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs780177579 11q13.1 11 64859995T> A null I F 296 296 missense 0.998 probably damaging 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs780177579 11q13.1 11 64859995T> C null I V 296 296 missense 0.982 probably damaging 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1427467380 11q13.1 11 64859982G> A null P L 300 300 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs767299233 11q13.1 11 64859979C> T null R Q 301 301 missense 0.044 benign 0.18 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs761533385 11q13.1 11 64859974C> T null A T 303 303 missense 0.998 probably damaging 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375367567 cosmic curated [Cosmic]: endometrium cosmic_study:419 11q13.1 11 64859971C> T null A T 304 304 0.001198 missense 0.998 probably damaging 0.08 tolerated 1 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs143108927 11q13.1 11 64859968G> C null L V 305 305 missense 0.499 possibly damaging 0.42 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1383678134 11q13.1 11 64859962T> G null K Q 307 307 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1405546039 11q13.1 11 64859953C> T null D N 310 310 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1003029260 11q13.1 11 64859941G> A null R W 314 314 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs772435067 11q13.1 11 64859938C> A null A S 315 315 missense 0.998 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs748477384 11q13.1 11 64859935G> A null R W 316 316 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1168013810 11q13.1 11 64859928G> C null A G 318 318 missense 0.998 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1216574356 cosmic curated [Cosmic]: breast cosmic_study:414 11q13.1 11 64855483G> A null H Y 321 321 missense 0.519 possibly damaging 0.0 deleterious 1 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs747303692 11q13.1 11 64855480C> T null A T 322 322 missense 0.998 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1219832228 11q13.1 11 64855476T> C null Y C 323 323 missense 0.952 probably damaging 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,TOPMed,gnomAD rs199679486 11q13.1 11 64855477A> G null Y H 323 323 missense 0.908 possibly damaging 0.14 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,TOPMed,gnomAD rs199679486 11q13.1 11 64855477A> T null Y N 323 323 missense 0.826 possibly damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC rs777398166 11q13.1 11 64855474T> C null I V 324 324 missense 0.007 benign 0.09 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs758299802 11q13.1 11 64855464G> A null S F 327 327 missense 0.522 possibly damaging 0.18 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1592743690 11q13.1 11 64855462G> A null L F 328 328 missense 0.599 possibly damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1316115979 11q13.1 11 64855447G> C null P A 333 333 missense 0.045 benign 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs112277567 11q13.1 11 64855429C> A null E * 339 339 stop gained 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs752633828 11q13.1 11 64855425C> T null S N 340 340 missense 0.003 benign 0.56 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1462611164 11q13.1 11 64855423T> C null K E 341 341 missense 0.127 benign 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs765280172 11q13.1 11 64855419T> C null K R 342 342 missense 0.622 possibly damaging 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs913337623 11q13.1 11 64855416T> G null K T 343 343 missense 0.697 possibly damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs890634944 11q13.1 11 64855403G> T null N K 347 347 missense 0.062 benign 1.0 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1051928143 11q13.1 11 64855402T> C null N D 348 348 missense 0.197 benign 0.24 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1350349145 11q13.1 11 64855401T> C null N S 348 348 missense 0.019 benign 0.17 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs764406886 11q13.1 11 64855395C> T null G E 350 350 missense 0.343 benign 0.76 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs147065799 11q13.1 11 64855396C> T null G R 350 350 missense 0.478 possibly damaging 0.43 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs764406886 11q13.1 11 64855395C> A null G V 350 350 missense 0.343 benign 0.18 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1432170365 11q13.1 11 64855391C> A null E D 351 351 missense 0.012 benign 0.28 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1468732445 11q13.1 11 64855389A> G null I T 352 352 missense 0.012 benign 0.17 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs763317796 11q13.1 11 64855384G> A null Q * 354 354 stop gained 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs775905162 11q13.1 11 64855383T> G null Q P 354 354 missense 0.0 benign 0.26 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1247699756 11q13.1 11 64855380T> C null K R 355 355 missense 0.005 benign 0.39 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1198569163 11q13.1 11 64855377A> G null I T 356 356 missense 0.209 benign 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs769343856 11q13.1 11 64855374T> A null E V 357 357 missense 0.549 possibly damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs770277984 11q13.1 11 64855372G> A null R C 358 358 missense 0.761 possibly damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs141684244 11q13.1 11 64855371C> T null R H 358 358 missense 0.616 possibly damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs369314193 11q13.1 11 64855369C> T null E K 359 359 missense 0.26 benign 0.42 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs369314193 11q13.1 11 64855369C> G null E Q 359 359 missense 0.688 possibly damaging 0.18 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1252131831 11q13.1 11 64855365T> G null H P 360 360 missense 0.377 benign 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1287331084 11q13.1 11 64855363G> A null Q * 361 361 stop gained 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1592743565 11q13.1 11 64855344A> G null F S 367 367 missense 0.84 possibly damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,gnomAD rs538751200 11q13.1 11 64855341G> A null P L 368 368 0.0002 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs778919976 11q13.1 11 64855333G> A null R C 371 371 missense 0.498 possibly damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs754955045 11q13.1 11 64855332C> T null R H 371 371 missense 0.322 benign 0.09 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs754955045 cosmic curated [Cosmic]: liver cosmic_study:322 11q13.1 11 64855332C> A null R L 371 371 missense 0.001 benign 0.12 tolerated 1 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs753864789 11q13.1 11 64855323T> C null Q R 374 374 missense 0.024 benign 0.39 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs189447161 11q13.1 11 64854855T> A null E D 375 375 0.000998 missense 0.045 benign 0.15 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs189447161 11q13.1 11 64854855T> G null E D 375 375 0.000998 missense 0.045 benign 0.15 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1286560980 11q13.1 11 64854857C> T null E K 375 375 missense 0.615 possibly damaging 0.14 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1262602490 11q13.1 11 64854841T> C null Q R 380 380 missense 0.197 benign 0.21 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs773420368 11q13.1 11 64854837G> C null D E 381 381 missense 0.997 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1314155782 11q13.1 11 64854835A> C null F C 382 382 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs762102313 11q13.1 11 64854834G> C null F L 382 382 missense 0.992 probably damaging 0.04 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1339386474 11q13.1 11 64854829T> G null K T 384 384 missense 0.999 probably damaging 0.08 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1421181516 11q13.1 11 64854826A> G null F S 385 385 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs774732929 11q13.1 11 64854827A> C null F V 385 385 missense 0.995 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1159565317 11q13.1 11 64854821C> G null A P 387 387 missense 0.0 benign 0.43 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1457787267 11q13.1 11 64854820G> A null A V 387 387 missense 0.003 benign 0.13 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1565715275 11q13.1 11 64854812G> A null P S 390 390 missense 0.301 benign 0.14 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs199557517 11q13.1 11 64854796G> A null T M 395 395 0.0002 missense 0.489 possibly damaging 0.08 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1209023423 11q13.1 11 64854794C> A null V L 396 396 missense 0.995 probably damaging 0.5 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,gnomAD rs200505838 11q13.1 11 64854790T> C null D G 397 397 0.0002 missense 0.622 possibly damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs372649209 11q13.1 11 64854791C> T null D N 397 397 missense 0.547 possibly damaging 0.05 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs945198650 11q13.1 11 64854784A> G null M T 399 399 missense 0.339 benign 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1275831430 11q13.1 11 64854785T> C null M V 399 399 missense 0.139 benign 0.3 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1401447662 11q13.1 11 64854779C> T null A T 401 401 missense 0.341 benign 0.48 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs751340054 11q13.1 11 64854775T> G null N T 402 402 missense 0.341 benign 0.66 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs755240501 11q13.1 11 64854773C> T null D N 403 403 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1295771316 11q13.1 11 64854768G> C null I M 404 404 missense 0.999 probably damaging 0.06 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs139980253 11q13.1 11 64854770T> C null I V 404 404 missense 0.982 probably damaging 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1462494316 11q13.1 11 64854767C> T null A T 405 405 missense 0.998 probably damaging 0.15 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1422999914 cosmic curated [Cosmic]: large_intestine pubmed:23856246,cosmic_study:504 11q13.1 11 64854766G> A null A V 405 405 missense 0.998 probably damaging 0.04 deleterious 1 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs368134228 11q13.1 11 64854763C> T null R Q 406 406 missense 0.435 benign 0.2 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs751013780 11q13.1 11 64854764G> A null R W 406 406 missense 0.957 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,gnomAD rs200967520 11q13.1 11 64854750C> T null M I 410 410 0.0002 missense 0.025 benign 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs774644717 11q13.1 11 64854745C> T null R Q 412 412 missense 0.027 benign 0.26 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs151119199 11q13.1 11 64854746G> A null R W 412 412 missense 0.91 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs768914352 11q13.1 11 64854739T> C null E G 414 414 missense 0.998 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1214239328 11q13.1 11 64854740C> T null E K 414 414 missense 0.997 probably damaging 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1219969389 11q13.1 11 64854736T> C null E G 415 415 missense 0.998 probably damaging 0.06 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1255537229 11q13.1 11 64854737C> G null E Q 415 415 missense 0.998 probably damaging 0.12 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs763155061 11q13.1 11 64854726C> T null M I 418 418 missense 0.025 benign 0.19 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1051657504 11q13.1 11 64854716C> G null V L 422 422 missense 0.0 benign 0.68 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1051657504 11q13.1 11 64854716C> T null V M 422 422 missense 0.003 benign 0.29 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed rs775327121 11q13.1 11 64854710T> C null K E 424 424 missense 0.148 benign 0.29 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1230660399 11q13.1 11 64854707C> T null G S 425 425 missense 1.0 probably damaging 0.05 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs745758923 11q13.1 11 64854703C> T null G D 426 426 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs775486279 11q13.1 11 64854704C> T null G S 426 426 missense 1.0 probably damaging 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs770361784 11q13.1 11 64854701C> T null A T 427 427 missense 0.995 probably damaging 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1467264055 11q13.1 11 64854700G> A null A V 427 427 missense 0.991 probably damaging 0.06 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1397360498 11q13.1 11 64854698A> G null F L 428 428 missense 0.981 probably damaging 0.16 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs777205616 11q13.1 11 64854692C> A null G C 430 430 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs758064042 11q13.1 11 64854691C> T null G D 430 430 missense 1.0 probably damaging 0.09 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs777205616 11q13.1 11 64854692C> T null G S 430 430 missense 1.0 probably damaging 0.14 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1592742928 11q13.1 11 64854689T> G null T P 431 431 missense 0.525 possibly damaging 0.09 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1194041615 11q13.1 11 64854685A> G null M T 432 432 missense 0.003 benign 0.58 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs768139342 11q13.1 11 64854671C> T null G R 437 437 missense 0.93 probably damaging 0.26 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1198360200 11q13.1 11 64854667T> G null H P 438 438 missense 0.768 possibly damaging 0.22 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs751688333 11q13.1 11 64854665C> T null G S 439 439 missense 1.0 probably damaging 0.17 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs765042811 11q13.1 11 64854647C> T null G S 445 445 missense 0.081 benign 0.81 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1404624957 11q13.1 11 64854643T> C null E G 446 446 missense 0.998 probably damaging 0.27 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs145959349 11q13.1 11 64854644C> T null E K 446 446 missense 0.995 probably damaging 0.48 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1173987847 11q13.1 11 64854638T> C null I V 448 448 missense 0.033 benign 0.63 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs747015075 11q13.1 11 64854633G> T null D E 449 449 missense 0.986 probably damaging 0.56 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1470506911 11q13.1 11 64854631T> C null D G 450 450 missense 0.474 possibly damaging 0.05 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1180429847 11q13.1 11 64854632C> T null D N 450 450 missense 0.239 benign 0.08 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1465592519 11q13.1 11 64854613C> G null G A 456 456 missense 0.001 benign 1.0 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1215501899 11q13.1 11 64854608C> T null D N 458 458 missense 0.819 possibly damaging 0.05 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs201012032 11q13.1 11 64854601G> A null P L 460 460 missense 1.0 probably damaging 0.14 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs778458817 11q13.1 11 64854602G> A null P S 460 460 missense 0.999 probably damaging 0.34 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146180179 11q13.1 11 64854598G> A null T I 461 461 0.0002 missense 0.289 benign 0.12 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1445964141 11q13.1 11 64854595T> C null Y C 462 462 missense 1.0 probably damaging 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1008067847 11q13.1 11 64854591G> T null D E 463 463 missense 0.611 possibly damaging 0.09 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs200066321 11q13.1 11 64854593C> T null D N 463 463 missense 0.803 possibly damaging 0.04 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1279892217 cosmic curated [Cosmic]: lung cosmic_study:417 11q13.1 11 64854590C> T null E K 464 464 missense 0.995 probably damaging 0.18 tolerated 1 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs910451434 11q13.1 11 64854580T> C null Y C 467 467 missense 0.942 probably damaging 0.17 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs757811551 11q13.1 11 64854577G> A null T M 468 468 missense 0.951 probably damaging 0.06 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs777466279 11q13.1 11 64854574A> G null L P 469 469 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1236479445 11q13.1 11 64854575G> C null L V 469 469 missense 0.977 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,gnomAD rs558563641 11q13.1 11 64854571G> T null S Y 470 470 0.000399 missense 0.937 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1485995284 11q13.1 11 64854568G> T null P H 471 471 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1188614152 11q13.1 11 64854566C> A null V F 472 472 missense 0.426 benign 0.28 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1188614152 11q13.1 11 64854566C> T null V I 472 472 missense 0.001 benign 0.5 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs202195664 11q13.1 11 64854561G> C null N K 473 473 missense 0.513 possibly damaging 0.08 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs759813362 11q13.1 11 64854560C> T null G S 474 474 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1592742699 11q13.1 11 64854554T> C null I V 476 476 missense 0.0 benign 0.69 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1487135938 cosmic curated [Cosmic]: large_intestine cosmic_study:376 11q13.1 11 64854550G> A null T M 477 477 missense 0.883 possibly damaging 0.01 deleterious 1 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1318006288 11q13.1 11 64854545C> T null A T 479 479 missense 0.338 benign 0.38 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs576194809 11q13.1 11 64854541T> C null N S 480 480 0.0002 missense 0.0 benign 0.78 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs773992056 11q13.1 11 64854539C> T null A T 481 481 missense 0.665 possibly damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1338109178 11q13.1 11 64854527T> A null M L 485 485 missense 0.007 benign 0.63 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs897745909 11q13.1 11 64854523A> G null V A 486 486 missense 0.08 benign 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs556269920 11q13.1 11 64854513C> G null K N 489 489 0.000599 missense 0.998 probably damaging 0.12 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs771446626 11q13.1 11 64854509G> A null P S 491 491 missense 0.999 probably damaging 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs747511970 11q13.1 11 64854505T> C null N S 492 492 missense 0.969 probably damaging 0.12 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1317090714 11q13.1 11 64854497G> C null L V 495 495 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1592742610 11q13.1 11 64854493C> T null G E 496 496 missense 0.948 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1425367485 11q13.1 11 64854494C> T null G R 496 496 missense 0.368 benign 0.33 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs958886354 11q13.1 11 64854473C> T null D N 503 503 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs958886354 11q13.1 11 64854473C> A null D Y 503 503 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs755160517 11q13.1 11 64854470C> G null V L 504 504 missense 0.982 probably damaging 0.11 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs755160517 11q13.1 11 64854470C> T null V M 504 504 missense 0.998 probably damaging 0.08 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs754106431 11q13.1 11 64854467C> T null D N 505 505 missense 0.996 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs567807578 11q13.1 11 64854463T> C null K R 506 506 0.0002 missense 0.001 benign 0.87 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs370911440 11q13.1 11 64854454A> C null L R 509 509 missense 0.208 benign 0.15 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs762647797 11q13.1 11 64854446C> T null D N 512 512 missense 0.809 possibly damaging 0.45 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs367709253 11q13.1 11 64854441C> G null E D 513 513 missense 0.015 benign 0.95 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs747349369 11q13.1 11 64854437A> G null F L 515 515 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs772454605 11q13.1 11 64854433G> A null A V 516 516 missense 0.728 possibly damaging 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs755070502 11q13.1 11 64854416T> C null I V 522 522 missense 0.968 probably damaging 0.18 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs267603107 11q13.1 11 64854392C> T null E K 530 530 missense 0.995 probably damaging 0.15 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1205468312 11q13.1 11 64854386G> A null P S 532 532 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs201518487 11q13.1 11 64854383C> T null A T 533 533 0.0002 missense 0.001 benign 0.6 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs762558324 11q13.1 11 64854379T> C null D G 534 534 missense 0.054 benign 0.06 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs763660911 11q13.1 11 64854380C> T null D N 534 534 missense 0.027 benign 0.1 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1291217449 11q13.1 11 64854374G> A null P S 536 536 missense 0.999 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,TOPMed,gnomAD rs529387634 11q13.1 11 64854370G> A null P L 537 537 0.0002 missense 0.001 benign 0.29 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs772535208 11q13.1 11 64854362C> A null V L 540 540 missense 0.022 benign 0.16 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs772535208 11q13.1 11 64854362C> T null V M 540 540 missense 0.716 possibly damaging 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1436949958 11q13.1 11 64854358G> A null P L 541 541 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs954952083 11q13.1 11 64854347G> A null R C 545 545 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs774868370 11q13.1 11 64854346C> T null R H 545 545 missense 0.997 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs768654185 11q13.1 11 64854341G> A null H Y 547 547 missense 0.023 benign 1.0 tolerated - low confidence 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1483024494 11q13.1 11 64854338C> T null E K 548 548 missense 0.069 benign 1.0 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs774791764 11q13.2 11 66568015A> C null V G 2 2 missense 0.038 benign 0.0 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs1222061377 11q13.2 11 66568009C> T null R Q 4 4 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1290957397 11q13.2 11 66568007G> A null L F 5 5 missense 0.289 benign 0.03 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs1307773880 11q13.2 11 66568006A> G null L P 5 5 missense 0.454 possibly damaging 0.01 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs745466714 11q13.2 11 66568003G> A null P L 6 6 missense 0.075 benign 0.0 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1162880396 11q13.2 11 66568000A> T null V E 7 7 missense 0.001 benign 0.07 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1283538072 cosmic curated [Cosmic]: breast cosmic_study:414 11q13.2 11 66568001C> T null V M 7 7 missense 0.24 benign 0.02 deleterious - low confidence 1 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,gnomAD rs143077418 11q13.2 11 66567995T> C null K E 9 9 missense 0.038 benign 0.07 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,gnomAD rs370663814 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine cosmic_study:375,cosmic_study:419 11q13.2 11 66567993C> G null K N 9 9 missense 0.001 benign 0.11 tolerated - low confidence 1 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,gnomAD rs143077418 11q13.2 11 66567995T> G null K Q 9 9 missense 0.01 benign 0.09 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F Ensembl,dbSNP rs1565313562 11q13.2 11 66567994T> G null K T 9 9 missense 0.038 benign 0.03 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs777757226 11q13.2 11 66567992T> C null K E 10 10 missense 0.666 possibly damaging 0.14 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs758212483 11q13.2 11 66567988G> A null T I 11 11 missense 0.973 probably damaging 0.0 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs758212483 11q13.2 11 66567988G> C null T S 11 11 missense 0.293 benign 0.01 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs777947354 11q13.2 11 66567662G> C null L V 13 13 missense 0.018 benign 0.14 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs753222482 11q13.2 11 66567656T> G null S R 15 15 missense 0.003 benign 0.18 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs765914720 11q13.2 11 66567655C> G null S T 15 15 missense 0.071 benign 0.24 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs1183236367 11q13.2 11 66567651G> C null F L 16 16 missense 0.787 possibly damaging 0.0 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs759107942 11q13.2 11 66567652A> G null F S 16 16 missense 0.814 possibly damaging 0.0 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs988569976 11q13.2 11 66567650G> A null Q * 17 17 missense 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs988569976 11q13.2 11 66567650G> C null Q E 17 17 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs988569976 11q13.2 11 66567650G> T null Q K 17 17 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F Ensembl rs772237105 11q13.2 11 66567643A> T null L Q 19 19 missense 0.564 possibly damaging 0.01 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs765918622 11q13.2 11 66567632C> T null G R 23 23 missense 0.321 benign 0.0 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,gnomAD rs112809338 11q13.2 11 66567624G> T null H Q 25 25 missense 0.01 benign 0.21 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs1435625185 11q13.2 11 66567623C> T null V M 26 26 missense 0.003 benign 1.0 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs372604212 11q13.2 11 66567620G> C null L V 27 27 missense 0.232 benign 0.0 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs973960550 11q13.2 11 66567617G> C null L V 28 28 missense 0.631 possibly damaging 0.06 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,dbSNP,gnomAD rs369135126 11q13.2 11 66567613C> G null R P 29 29 missense 0.296 benign 0.0 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,gnomAD rs369135126 11q13.2 11 66567613C> T null R Q 29 29 missense 0.084 benign 0.01 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs771743743 11q13.2 11 66567614G> A null R W 29 29 missense 0.543 possibly damaging 0.0 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,gnomAD rs368340392 11q13.2 11 66567610T> C null K R 30 30 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F Ensembl rs1590817010 11q13.2 11 66567608C> G null D H 31 31 missense 0.087 benign 0.03 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs749228019 11q13.2 11 66567605A> G null C R 32 32 missense 0.915 probably damaging 0.0 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs769529295 11q13.2 11 66567598G> A null P L 34 34 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F Ensembl rs1315225783 11q13.2 11 66567599G> A null P S 34 34 missense 0.07 benign 0.01 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1227521688 11q13.2 11 66567596C> T null V M 35 35 missense 0.88 possibly damaging 0.0 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs747173740 11q13.2 11 66567591G> T null D E 36 36 missense 0.081 benign 0.1 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs771061622 11q13.2 11 66567593C> T null D N 36 36 missense 0.003 benign 0.25 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs1196750089 11q13.2 11 66567587T> C null K E 38 38 missense 0.097 benign 0.0 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs753173665 11q13.2 11 66567583A> T null V D 39 39 missense 0.099 benign 0.0 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs758688739 11q13.2 11 66567584C> A null V F 39 39 missense 0.118 benign 0.01 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs758688739 11q13.2 11 66567584C> T null V I 39 39 missense 0.0 benign 0.22 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F Ensembl rs1023853850 11q13.2 11 66567580G> C null P R 40 40 missense 0.015 benign 0.04 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs267603129 11q13.2 11 66567581G> A null P S 40 40 missense 0.0 benign 0.44 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1338428665 11q13.2 11 66567577C> T null G D 41 41 missense 0.984 probably damaging 0.01 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs754428478 11q13.2 11 66567571C> T null G E 43 43 missense 0.0 benign 0.2 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs754428478 11q13.2 11 66567571C> A null G V 43 43 missense 0.086 benign 0.12 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1365060052 11q13.2 11 66567568T> C null E G 44 44 missense 0.003 benign 0.31 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs765758974 11q13.2 11 66567559G> T null S * 47 47 stop gained 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs765758974 11q13.2 11 66567559G> A null S L 47 47 missense 0.108 benign 0.31 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs79274952 11q13.2 11 66567557C> T null A T 48 48 0.01697 missense 0.012 benign 0.73 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs761466710 11q13.2 11 66567550G> A null T I 50 50 missense 0.0 benign 0.43 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F Ensembl rs1034678764 11q13.2 11 66567551T> G null T P 50 50 missense 0.0 benign 0.36 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F Ensembl rs999163282 11q13.2 11 66567545C> T null G S 52 52 missense 0.005 benign 0.59 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs763907647 11q13.2 11 66567539C> T null A T 54 54 missense 0.053 benign 0.08 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs1372162615 11q13.2 11 66567534C> G null M I 55 55 missense 0.0 benign 0.33 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs902167165 11q13.2 11 66567535A> C null M R 55 55 missense 0.003 benign 0.3 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1182319852 11q13.2 11 66567529G> C null S C 57 57 missense 0.431 benign 0.05 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs775543574 11q13.2 11 66567518G> A null Q * 61 61 stop gained 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1291422686 11q13.2 11 66567512G> T null H N 63 63 missense 0.001 benign 0.21 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1244186615 11q13.2 11 66567511T> C null H R 63 63 missense 0.0 benign 0.27 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1450095775 11q13.2 11 66567508G> A null P L 64 64 missense 0.0 benign 0.2 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F ESP,TOPMed rs372121871 11q13.2 11 66567502T> C null N S 66 66 missense 0.0 benign 0.76 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs773296151 11q13.2 11 66567498T> G null R S 67 67 missense 0.024 benign 0.53 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs772366380 11q13.2 11 66567497T> C null N D 68 68 missense 0.053 benign 0.16 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs748390300 11q13.2 11 66567495G> C null N K 68 68 missense 0.069 benign 0.09 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs1440127463 11q13.2 11 66567494C> T null E K 69 69 missense 0.009 benign 0.04 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs755417013 11q13.2 11 66567490G> A null T I 70 70 missense 0.36 benign 0.01 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs755417013 11q13.2 11 66567490G> C null T S 70 70 missense 0.005 benign 0.15 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs1371890674 11q13.2 11 66567487A> C null F C 71 71 missense 0.339 benign 0.08 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs749792353 11q13.2 11 66567486G> C null F L 71 71 missense 0.0 benign 0.66 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs780652380 11q13.2 11 66567484C> T null S N 72 72 missense 0.0 benign 0.39 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1473389823 11q13.2 11 66567479C> G null V L 74 74 missense 0.003 benign 0.41 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs749889136 11q13.2 11 66567462A> C null N K 79 79 missense 0.024 benign 0.23 tolerated 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs1228554441 11q13.2 11 66567456A> C null D E 81 81 missense 0.003 benign 0.47 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs1326105672 11q13.2 11 66567458C> A null D Y 81 81 missense 0.556 possibly damaging 0.0 deleterious - low confidence 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1191411661 11q13.2 11 66567455G> A null P S 82 82 missense 0.014 benign 0.21 tolerated - low confidence 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1269082654 11q13.2 11 66567449A> C null S A 84 84 missense 0.0 benign 0.17 tolerated 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1275088160 11q13.2 11 66567444C> G null Q H 85 85 missense 0.428 benign 0.02 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1213281624 11q13.2 11 66567446G> T null Q K 85 85 missense 0.003 benign 0.24 tolerated 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1332828634 11q13.2 11 66567445T> C null Q R 85 85 missense 0.074 benign 0.11 tolerated 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs1452816785 11q13.2 11 66567317A> G null L S 87 87 missense 0.119 benign 0.22 tolerated 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs1471597916 11q13.2 11 66567314G> A null P L 88 88 missense 0.028 benign 0.21 tolerated 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1480377412 11q13.2 11 66567306T> A null M L 91 91 missense 0.0 benign 0.93 tolerated 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs753203173 11q13.2 11 66567303C> T null A T 92 92 missense 0.005 benign 0.57 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs753741916 11q13.2 11 66567297T> C null I V 94 94 missense 0.0 benign 0.21 tolerated 0 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,gnomAD rs140630766 cosmic curated [Cosmic]: large_intestine cosmic_study:375 11q13.2 11 66567289C> G null K N 96 96 missense 0.062 benign 0.11 tolerated 1 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ExAC,gnomAD rs142743244 11q13.2 11 66567286G> T null N K 97 97 0.0002 missense 0.006 benign 0.71 tolerated 0 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ExAC,gnomAD rs142743244 11q13.2 11 66567286G> C null N K 97 97 0.0002 missense 0.006 benign 0.71 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs763089546 11q13.2 11 66567285A> C null F V 98 98 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs1373878567 11q13.2 11 66567282C> G null V L 99 99 missense 0.009 benign 0.66 tolerated 0 A0A024R5G9 CTSF Cathepsin F Ensembl rs1590816729 11q13.2 11 66567276T> C null T A 101 101 missense 0.81 possibly damaging 0.27 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs775883128 11q13.2 11 66567272T> C null Y C 102 102 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,gnomAD rs146841814 11q13.2 11 66567270T> C null N D 103 103 missense 0.348 benign 0.11 tolerated 0 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,gnomAD rs143814748 11q13.2 11 66567266C> G null R P 104 104 missense 0.735 possibly damaging 0.04 deleterious 0 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,gnomAD rs143814748 11q13.2 11 66567266C> T null R Q 104 104 missense 0.971 probably damaging 0.01 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs781691013 11q13.2 11 66567267G> A null R W 104 104 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1386409273 11q13.2 11 66567263G> T null T K 105 105 missense 0.173 benign 0.39 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs758004789 11q13.2 11 66567259A> C null Y * 106 106 stop gained 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs1222626938 11q13.2 11 66567258C> T null E K 107 107 missense 0.062 benign 0.66 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs760142275 11q13.2 11 66567254G> A null S L 108 108 missense 0.783 possibly damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1232616912 11q13.2 11 66567250C> A null K N 109 109 missense 0.102 benign 0.2 tolerated 0 A0A024R5G9 CTSF Cathepsin F Ensembl rs1565313069 11q13.2 11 66567246C> G null E Q 111 111 missense 0.934 probably damaging 0.01 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs778471188 11q13.2 11 66566402C> A null A S 112 112 missense 0.102 benign 0.4 tolerated 0 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ExAC,gnomAD rs537387648 11q13.2 11 66566401G> A null A V 112 112 0.0002 missense 0.038 benign 0.49 tolerated 0 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs142782021 [ClinVar]: Neuronal ceroid lipofuscinosis 13 11q13.2 11 66566398C> A null R L 113 113 0.001198 missense 0.013 benign 0.32 tolerated 0 Neuronal ceroid lipofuscinosis 13 MIM:615362 ClinVar:RCV002065474 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs142782021 cosmic curated [ClinVar]: Neuronal ceroid lipofuscinosis 13, [Cosmic]: large_intestine cosmic_study:376 11q13.2 11 66566398C> T null R Q 113 113 0.001198 missense 0.001 benign 1.0 tolerated 1 Neuronal ceroid lipofuscinosis 13 MIM:615362 ClinVar:RCV000820991 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ExAC,TOPMed,gnomAD rs568250930 11q13.2 11 66566399G> A null R W 113 113 0.000399 missense 0.773 possibly damaging 0.01 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1210192124 11q13.2 11 66566393G> A null R C 115 115 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1210192124 11q13.2 11 66566393G> C null R G 115 115 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs750407625 11q13.2 11 66566392C> T null R H 115 115 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs750407625 11q13.2 11 66566392C> A null R L 115 115 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1232025541 11q13.2 11 66566387A> T null S T 117 117 missense 0.035 benign 0.46 tolerated 0 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs180808563 cosmic curated [Cosmic]: large_intestine cosmic_study:376 11q13.2 11 66566384C> T null V I 118 118 0.000399 missense 0.021 benign 1.0 tolerated 1 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,gnomAD rs146697999 11q13.2 11 66566373A> T null N K 121 121 missense 0.012 benign 0.67 tolerated 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs1382079346 11q13.2 11 66566374T> C null N S 121 121 missense 0.003 benign 0.73 tolerated 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs939297403 11q13.2 11 66566369T> C null M V 123 123 missense 0.05 benign 0.04 deleterious 0 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,dbSNP,gnomAD rs375562245 cosmic curated [Cosmic]: large_intestine pubmed:22810696,cosmic_study:376 11q13.2 11 66566363G> A null R * 125 125 missense 1 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,gnomAD rs375562245 11q13.2 11 66566363G> C null R G 125 125 missense 0.71 possibly damaging 0.14 tolerated 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs1039859068 11q13.2 11 66566362C> T null R Q 125 125 missense 0.322 benign 0.24 tolerated 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1393870149 11q13.2 11 66566357G> C null Q E 127 127 missense 0.086 benign 0.55 tolerated 0 A0A024R5G9 CTSF Cathepsin F Ensembl rs1228804097 11q13.2 11 66566355C> A null Q H 127 127 missense 0.223 benign 0.07 tolerated 0 A0A024R5G9 CTSF Cathepsin F Ensembl rs1565312752 11q13.2 11 66566354T> C null K E 128 128 missense 0.038 benign 0.43 tolerated 0 A0A024R5G9 CTSF Cathepsin F Ensembl rs1042255336 11q13.2 11 66566351T> A null I F 129 129 missense 0.06 benign 0.1 tolerated 0 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ExAC,gnomAD rs190243917 11q13.2 11 66566349G> C null I M 129 129 0.0002 missense 0.309 benign 0.02 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs766762684 11q13.2 11 66566348G> A null Q * 130 130 stop gained 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs766762684 11q13.2 11 66566348G> C null Q E 130 130 missense 0.33 benign 0.02 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs773757404 11q13.2 11 66566338T> C null D G 133 133 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs761122016 11q13.2 11 66566339C> A null D Y 133 133 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs143313688 11q13.2 11 66566336G> A null R C 134 134 0.001597 missense 0.93 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,dbSNP,gnomAD rs747683963 11q13.2 11 66566335C> T null R H 134 134 missense 0.081 benign 0.06 tolerated 0 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs148611356 11q13.2 11 66566329G> C null T R 136 136 0.000599 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs1300473429 11q13.2 11 66566326G> A null A V 137 137 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs929020615 11q13.2 11 66566319A> T null Y * 139 139 stop gained 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs929020615 11q13.2 11 66566319A> C null Y * 139 139 stop gained 0 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,gnomAD rs149533017 11q13.2 11 66566312T> A null T S 142 142 missense 0.996 probably damaging 0.03 deleterious 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs1322927787 11q13.2 11 66566308T> C null K R 143 143 missense 0.444 benign 0.09 tolerated 0 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ExAC,gnomAD rs549953965 11q13.2 11 66566301A> C null S R 145 145 0.0002 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,dbSNP,gnomAD rs745764807 11q13.2 11 66566297G> A null L F 147 147 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1407768477 11q13.2 11 66566294T> C null T A 148 148 missense 0.951 probably damaging 0.01 deleterious 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs1284768089 11q13.2 11 66566167T> A null E V 149 149 missense 0.374 benign 0.09 tolerated 0 A0A024R5G9 CTSF Cathepsin F Ensembl rs1565312654 11q13.2 11 66566159A> G null F L 152 152 missense 0.984 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs756460539 11q13.2 11 66566158A> G null F S 152 152 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs563045234 11q13.2 11 66566156G> A null R C 153 153 missense 0.836 possibly damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs767931300 11q13.2 11 66566155C> T null R H 153 153 missense 0.031 benign 0.05 tolerated 0 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11550508 11q13.2 11 66567517T> C null Q R 153 153 0.002995 missense 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs201753663 11q13.2 11 66566153T> C null T A 154 154 missense 0.014 benign 0.45 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs201753663 11q13.2 11 66566153T> G null T P 154 154 missense 0.658 possibly damaging 0.07 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs763662917 11q13.2 11 66566150T> C null I V 155 155 missense 0.017 benign 0.47 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs762614811 11q13.2 11 66566146T> C null Y C 156 156 missense 0.96 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs879899565 11q13.2 11 66566139A> T null N K 158 158 missense 0.443 benign 0.19 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs775268694 11q13.2 11 66566137G> A null T I 159 159 missense 0.003 benign 0.06 tolerated 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1202425789 11q13.2 11 66566134A> G null L P 160 160 missense 0.017 benign 0.13 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs769512466 11q13.2 11 66566128C> T null R K 162 162 missense 0.0 benign 0.98 tolerated 0 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs545009 11q13.2 11 66566127C> G null R S 162 162 0.4111 missense 0.003 benign 0.69 tolerated 0 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs545009 11q13.2 11 66566127C> A null R S 162 162 0.4111 missense 0.003 benign 0.69 tolerated 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1410323130 11q13.2 11 66566123C> T null E K 164 164 missense 0.005 benign 0.82 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,dbSNP,gnomAD rs776247858 11q13.2 11 66566119G> A null P L 165 165 missense 0.003 benign 0.25 tolerated 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs1448373102 11q13.2 11 66566117C> T null G S 166 166 missense 0.005 benign 0.79 tolerated 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs1331896102 11q13.2 11 66566113T> C null N S 167 167 missense 0.0 benign 0.62 tolerated 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs1331896102 11q13.2 11 66566113T> G null N T 167 167 missense 0.0 benign 0.36 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs746899739 11q13.2 11 66566111T> C null K E 168 168 missense 0.01 benign 0.61 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs746899739 11q13.2 11 66566111T> G null K Q 168 168 missense 0.017 benign 0.4 tolerated 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1455239293 11q13.2 11 66566107A> G null M T 169 169 missense 0.085 benign 0.06 tolerated 0 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,gnomAD rs371200527 11q13.2 11 66566108T> C null M V 169 169 missense 0.186 benign 0.16 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs780124294 11q13.2 11 66566102G> A null Q * 171 171 missense 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs780124294 11q13.2 11 66566102G> C null Q E 171 171 missense 0.003 benign 1.0 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs756264326 11q13.2 11 66566101T> C null Q R 171 171 missense 0.003 benign 0.53 tolerated 0 A0A024R5G9 CTSF Cathepsin F Ensembl rs910288326 11q13.2 11 66566098G> C null A G 172 172 missense 0.039 benign 0.04 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs781386282 11q13.2 11 66566086C> A null G V 176 176 missense 0.007 benign 0.27 tolerated 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1443350893 11q13.2 11 66566083T> C null D G 177 177 missense 0.0 benign 0.34 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs752001068 11q13.2 11 66566078C> T null A T 179 179 missense 0.523 possibly damaging 0.39 tolerated 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1268808954 11q13.2 11 66566072G> A null P S 181 181 missense 0.026 benign 0.21 tolerated 0 A0A024R5G9 CTSF Cathepsin F Ensembl rs932976138 11q13.2 11 66566065C> T null W * 183 183 stop gained 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1228952360 11q13.2 11 66566061G> T null D E 184 184 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs763567392 11q13.2 11 66566059C> T null W * 185 185 stop gained 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs752186392 11q13.2 11 66566058C> A null W C 185 185 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs764869338 11q13.2 11 66566056C> T null R K 186 186 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs776395150 11q13.2 11 66566052A> T null S R 187 187 missense 0.219 benign 0.08 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs762458462 11q13.2 11 66566048C> G null G R 189 189 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs762458462 11q13.2 11 66566048C> A null G W 189 189 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1427573605 11q13.2 11 66566045C> G null A P 190 190 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1412351610 11q13.2 11 66566035T> C null K R 193 193 missense 0.1 benign 0.08 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs771943482 11q13.2 11 66566033C> G null V L 194 194 missense 0.955 probably damaging 0.01 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs748086442 11q13.2 11 66566029T> C null K R 195 195 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ESP rs142805637 11q13.2 11 66566022C> A null Q H 197 197 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs759461850 11q13.2 11 66565911C> G null C S 203 203 missense 0.985 probably damaging 0.01 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs746013208 11q13.2 11 66565907C> T null W * 204 204 stop gained 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1306714021 11q13.2 11 66565908C> G null W S 204 204 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs776587445 11q13.2 11 66565897C> A null V F 208 208 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs771117136 11q13.2 11 66565890C> T null G D 210 210 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs771117136 11q13.2 11 66565890C> A null G V 210 210 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs747224695 11q13.2 11 66565888T> C null N D 211 211 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F Ensembl rs1590815830 11q13.2 11 66565870A> C null F V 217 217 missense 0.96 probably damaging 0.06 tolerated 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1275033733 11q13.2 11 66565851A> T null L Q 223 223 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs754434242 11q13.2 11 66565849G> A null L F 224 224 missense 0.825 possibly damaging 0.04 deleterious 0 A0A024R5G9 CTSF Cathepsin F TOPMed,dbSNP,gnomAD rs1219372597 11q13.2 11 66565843G> A null L F 226 226 missense 0.978 probably damaging 0.09 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs755755081 11q13.2 11 66565837C> G null E Q 228 228 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs893705162 11q13.2 11 66565832C> G null Q H 229 229 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs748582111 11q13.2 11 66565751T> A null E V 230 230 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,dbSNP,gnomAD rs143889283 [ClinVar]: Neuronal ceroid lipofuscinosis 13, [UniProt]: CLN13 pubmed:23297359 pubmed:23297359 11q13.2 11 66566320T> C null Y C 231 231 missense 0 Ceroid lipofuscinosis, neuronal, 13 (Kufs type) (CLN13) A form of neuronal ceroid lipofuscinosis characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material. CLN13 inheritance is autosomal recessive. MIM:615362 pubmed:23297359 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,dbSNP,gnomAD rs143889283 [ClinVar]: Neuronal ceroid lipofuscinosis 13, [UniProt]: CLN13 pubmed:23297359 pubmed:23297359 11q13.2 11 66566320T> C null Y C 231 231 missense 0 Neuronal ceroid lipofuscinosis 13 MIM:615362 ClinVar:RCV000054493 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs779160410 11q13.2 11 66565748A> G null L P 231 231 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs769143533 11q13.2 11 66565745A> G null L S 232 232 missense 0.961 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs779569569 11q13.2 11 66565740A> G null C R 234 234 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F Ensembl rs933049796 11q13.2 11 66565739C> T null C Y 234 234 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs1399816661 11q13.2 11 66565734T> G null K Q 236 236 missense 0.039 benign 0.19 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs755617235 11q13.2 11 66565733T> C null K R 236 236 missense 0.015 benign 0.22 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs750069810 11q13.2 11 66565728C> G null D H 238 238 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs750069810 11q13.2 11 66565728C> T null D N 238 238 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ExAC,gnomAD rs569797867 11q13.2 11 66565723C> A null K N 239 239 0.000399 missense 0.105 benign 0.26 tolerated 0 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ExAC,gnomAD rs549988778 11q13.2 11 66565718C> T null C Y 241 241 0.000399 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs1362151153 11q13.2 11 66565713C> T null G S 243 243 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ExAC,TOPMed,gnomAD rs189862070 11q13.2 11 66565710C> T null G S 244 244 0.0002 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F Ensembl rs867463018 11q13.2 11 66565703G> A null P L 246 246 missense 0.996 probably damaging 0.19 tolerated 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1313822481 11q13.2 11 66565704G> A null P S 246 246 missense 0.998 probably damaging 0.01 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1419547521 11q13.2 11 66565698T> G null N H 248 248 missense 0.767 possibly damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs773555427 11q13.2 11 66565697T> C null N S 248 248 missense 0.007 benign 0.02 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs762134997 11q13.2 11 66565690G> T null Y * 250 250 missense 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs200646712 cosmic curated [Cosmic]: lung cosmic_study:418 11q13.2 11 66565688G> T null S * 251 251 missense 1 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs200646712 11q13.2 11 66565688G> A null S L 251 251 missense 0.006 benign 0.16 tolerated 0 A0A024R5G9 CTSF Cathepsin F Ensembl,dbSNP rs1565312331 11q13.2 11 66565683T> G null I L 253 253 missense 0.976 probably damaging 0.02 deleterious 0 A0A024R5G9 CTSF Cathepsin F Ensembl rs750756497 11q13.2 11 66564989C> T null D N 263 263 missense 0.042 benign 0.15 tolerated 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1344508435 11q13.2 11 66564982T> C null Y C 265 265 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs746404498 11q13.2 11 66564983A> G null Y H 265 265 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1312823737 11q13.2 11 66564970C> T null G D 269 269 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs1316031740 11q13.2 11 66564965T> C null M V 271 271 missense 0.0 benign 0.27 tolerated 0 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ExAC,gnomAD rs200760567 11q13.2 11 66564961T> C null Q R 272 272 0.000399 missense 0.483 possibly damaging 0.02 deleterious 0 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ExAC,TOPMed,gnomAD rs201500574 11q13.2 11 66564952T> C null N S 275 275 0.000399 missense 0.01 benign 1.0 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs758200986 11q13.2 11 66564948G> C null F L 276 276 missense 0.209 benign 0.23 tolerated 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs1309562811 11q13.2 11 66564949A> G null F S 276 276 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs747839565 11q13.2 11 66564943G> C null A G 278 278 missense 0.015 benign 0.24 tolerated 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs1055863767 11q13.2 11 66564936C> A null K N 280 280 missense 0.127 benign 0.09 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs778856523 11q13.2 11 66564935C> T null A T 281 281 missense 0.176 benign 0.1 tolerated 0 A0A024R5G9 CTSF Cathepsin F Ensembl rs937618113 11q13.2 11 66564934G> A null A V 281 281 missense 0.015 benign 1.0 tolerated 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1429341026 11q13.2 11 66564931T> C null K R 282 282 missense 0.007 benign 0.44 tolerated 0 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,dbSNP,gnomAD rs148080813 11q13.2 11 66564919T> C null N S 286 286 missense 0.579 possibly damaging 0.12 tolerated 0 A0A024R5G9 CTSF Cathepsin F Ensembl,dbSNP rs1565312058 11q13.2 11 66564915G> T null D E 287 287 missense 0.156 benign 0.04 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs757455465 cosmic curated [Cosmic]: ovary cosmic_study:331 11q13.2 11 66564911C> T null V M 289 289 missense 0.599 possibly damaging 0.03 deleterious 1 A0A024R5G9 CTSF Cathepsin F gnomAD rs1202365003 11q13.2 11 66564899G> T null Q K 293 293 missense 0.0 benign 1.0 tolerated 0 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116329758 11q13.2 11 66564894G> T null N K 294 294 0.004193 missense 0.793 possibly damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs778805546 11q13.2 11 66564805C> G null K N 297 297 missense 0.618 possibly damaging 0.06 tolerated 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs889550300 11q13.2 11 66564800G> C null A G 299 299 missense 0.969 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC rs754874145 11q13.2 11 66564795A> C null W G 301 301 missense 0.984 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1286315294 11q13.2 11 66564783T> A null R * 305 305 stop gained 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1205611211 11q13.2 11 66564779C> T null G D 306 306 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs1357290069 11q13.2 11 66564780C> T null G S 306 306 missense 0.996 probably damaging 0.03 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs780211076 11q13.2 11 66564774T> C null I V 308 308 missense 0.011 benign 0.3 tolerated 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1382980447 11q13.2 11 66564767A> G null V A 310 310 missense 0.466 possibly damaging 0.09 tolerated 0 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,gnomAD rs375891471 11q13.2 11 66564768C> T null V M 310 310 missense 0.959 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs1296401147 11q13.2 11 66564761A> G null I T 312 312 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1323910924 11q13.2 11 66564762T> C null I V 312 312 missense 0.361 benign 0.06 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs764262853 11q13.2 11 66564758T> C null N S 313 313 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs752964534 11q13.2 11 66564745C> A null M I 317 317 missense 0.876 possibly damaging 0.02 deleterious 0 A0A024R5G9 CTSF Cathepsin F Ensembl rs1590815069 11q13.2 11 66564644T> G null Y S 320 320 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs779164010 cosmic curated [Cosmic]: large_intestine, [Cosmic]: pancreas cosmic_study:328,cosmic_study:375 11q13.2 11 66564642G> A null R C 321 321 missense 0.925 probably damaging 0.02 deleterious 1 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145087378 11q13.2 11 66564641C> T null R H 321 321 0.0002 missense 0.847 possibly damaging 0.06 tolerated 0 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145087378 11q13.2 11 66564641C> A null R L 321 321 0.0002 missense 0.047 benign 0.14 tolerated 0 A0A024R5G9 CTSF Cathepsin F Ensembl,dbSNP rs397514731 [ClinVar]: Neuronal ceroid lipofuscinosis 13, [UniProt]: CLN13 pubmed:23297359 pubmed:23297359 11q13.2 11 66565833T> C null Q R 321 321 missense 0 Ceroid lipofuscinosis, neuronal, 13 (Kufs type) (CLN13) A form of neuronal ceroid lipofuscinosis characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material. CLN13 inheritance is autosomal recessive. MIM:615362 pubmed:23297359 A0A024R5G9 CTSF Cathepsin F Ensembl,dbSNP rs397514731 [ClinVar]: Neuronal ceroid lipofuscinosis 13, [UniProt]: CLN13 pubmed:23297359 pubmed:23297359 11q13.2 11 66565833T> C null Q R 321 321 missense 0 Neuronal ceroid lipofuscinosis 13 MIM:615362 ClinVar:RCV000054490 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ExAC,TOPMed,gnomAD rs200426008 11q13.2 11 66564636C> T null G R 323 323 0.0002 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F Ensembl,dbSNP rs1565311875 [ClinVar]: Neuronal ceroid lipofuscinosis 13 11q13.2 11 66564632A> G null I T 324 324 missense 0.62 possibly damaging 0.0 deleterious 0 Neuronal ceroid lipofuscinosis 13 MIM:615362 ClinVar:RCV000995752 A0A024R5G9 CTSF Cathepsin F gnomAD rs1477078268 11q13.2 11 66564633T> C null I V 324 324 missense 0.037 benign 0.67 tolerated 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs553298368 11q13.2 11 66564629G> A null S F 325 325 missense 0.978 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,dbSNP,gnomAD rs761039140 cosmic curated [Cosmic]: large_intestine cosmic_study:375 11q13.2 11 66564627G> A null R C 326 326 missense 0.835 possibly damaging 0.02 deleterious 1 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,dbSNP,gnomAD rs141345438 [ClinVar]: Neuronal ceroid lipofuscinosis 13 11q13.2 11 66564626C> T null R H 326 326 missense 0.0 benign 1.0 tolerated 0 Neuronal ceroid lipofuscinosis 13 MIM:615362 ClinVar:RCV001862012 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,gnomAD rs201295932 11q13.2 11 66564617C> T null R Q 329 329 missense 0.03 benign 0.07 tolerated 0 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28464796 11q13.2 11 66564618G> A null R W 329 329 0.008786 missense 0.061 benign 0.08 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs762721365 11q13.2 11 66564614G> A null P L 330 330 missense 0.027 benign 0.87 tolerated 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1285792511 11q13.2 11 66564612G> A null L F 331 331 missense 0.036 benign 0.35 tolerated 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1350275935 11q13.2 11 66564605C> T null S N 333 333 missense 0.087 benign 0.54 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC rs745759723 11q13.2 11 66564603G> A null P S 334 334 missense 0.631 possibly damaging 0.03 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs781257663 11q13.2 11 66564600A> G null W R 335 335 missense 0.06 benign 0.65 tolerated 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1355404031 11q13.2 11 66564599C> G null W S 335 335 missense 0.081 benign 0.89 tolerated 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs933983229 11q13.2 11 66564596A> G null L P 336 336 missense 0.505 possibly damaging 0.34 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs772030326 11q13.2 11 66564593A> G null I T 337 337 missense 0.666 possibly damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs748168574 11q13.2 11 66564584G> A null A V 340 340 missense 0.811 possibly damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs867917295 11q13.2 11 66564570C> A null G C 345 345 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs867917295 11q13.2 11 66564570C> T null G S 345 345 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs755154475 11q13.2 11 66564566T> C null Y C 346 346 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,gnomAD rs140795906 11q13.2 11 66564564C> A null G C 347 347 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,gnomAD rs140795906 11q13.2 11 66564564C> T null G S 347 347 missense 0.995 probably damaging 0.01 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1440223068 11q13.2 11 66564563C> A null G V 347 347 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150922871 [ClinVar]: Neuronal ceroid lipofuscinosis 13 11q13.2 11 66564558G> A null R C 349 349 0.000799 missense 0.975 probably damaging 0.0 deleterious 0 Neuronal ceroid lipofuscinosis 13 MIM:615362 ClinVar:RCV000897964 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs770836708 11q13.2 11 66564146C> A null R L 349 349 missense 0.177 benign 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs746980424 11q13.2 11 66564139G> T null D E 351 351 missense 0.01 benign 0.62 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs774367919 11q13.2 11 66564138C> T null V I 352 352 missense 0.0 benign 0.71 tolerated 0 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,gnomAD rs142523550 11q13.2 11 66564134G> A null P L 353 353 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1386768106 11q13.2 11 66564126C> T null A T 356 356 missense 0.246 benign 0.2 tolerated 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1183798256 11q13.2 11 66564125G> A null A V 356 356 missense 0.521 possibly damaging 0.29 tolerated 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs1448384887 11q13.2 11 66564123T> C null I V 357 357 missense 0.728 possibly damaging 0.29 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs780392718 11q13.2 11 66564119T> C null K R 358 358 missense 0.991 probably damaging 0.01 deleterious 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs1420059125 11q13.2 11 66564115G> T null N K 359 359 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1188816866 11q13.2 11 66564110C> T null W * 361 361 missense 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs1161851567 11q13.2 11 66564105T> C null T A 363 363 missense 0.003 benign 0.64 tolerated 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1486442248 11q13.2 11 66564102C> A null D Y 364 364 missense 0.211 benign 0.07 tolerated 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs888414145 11q13.2 11 66564098C> A null W L 365 365 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs888414145 11q13.2 11 66564098C> G null W S 365 365 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs397514732 11q13.2 11 66564095C> T null G D 366 366 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1219902919 11q13.2 11 66564096C> G null G R 366 366 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1292833331 11q13.2 11 66564090T> C null K E 368 368 missense 0.001 benign 0.85 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs746189450 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 11q13.2 11 66564089T> A null K M 368 368 missense 0.758 possibly damaging 0.0 deleterious 1 A0A024R5G9 CTSF Cathepsin F gnomAD rs930575227 11q13.2 11 66564088C> A null K N 368 368 missense 0.015 benign 0.18 tolerated 0 A0A024R5G9 CTSF Cathepsin F Ensembl rs1359113040 11q13.2 11 66564007C> T null G S 369 369 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs1265853849 11q13.2 11 66564006C> A null G V 369 369 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1393957780 11q13.2 11 66564003T> G null Y S 370 370 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs979461288 11q13.2 11 66563997T> C null Y C 372 372 missense 0.993 probably damaging 0.01 deleterious 0 A0A024R5G9 CTSF Cathepsin F TOPMed rs1433186226 11q13.2 11 66563991T> A null H L 374 374 missense 0.15 benign 0.01 deleterious 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1462090273 11q13.2 11 66563992G> A null H Y 374 374 missense 0.005 benign 1.0 tolerated 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs1005336445 11q13.2 11 66563989G> A null R C 375 375 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs1481670098 11q13.2 11 66563986C> T null G R 376 376 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs757733702 11q13.2 11 66563982G> A null S F 377 377 missense 0.986 probably damaging 0.01 deleterious 0 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,gnomAD rs201552564 11q13.2 11 66563980C> T null G R 378 378 missense 0.54 possibly damaging 0.17 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,gnomAD rs758987304 11q13.2 11 66563973C> T null C Y 380 380 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F Ensembl rs1590814457 11q13.2 11 66563971C> T null G S 381 381 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs1015687874 11q13.2 11 66563968C> T null V M 382 382 missense 0.886 possibly damaging 0.13 tolerated 0 A0A024R5G9 CTSF Cathepsin F gnomAD rs1004267060 11q13.2 11 66563961G> C null T S 384 384 missense 0.056 benign 0.28 tolerated 0 A0A024R5G9 CTSF Cathepsin F ESP,ExAC,TOPMed,gnomAD rs369589254 11q13.2 11 66563959T> C null M V 385 385 missense 0.178 benign 0.04 deleterious 0 A0A024R5G9 CTSF Cathepsin F Ensembl rs868491072 11q13.2 11 66563955G> A null A V 386 386 missense 0.437 benign 0.2 tolerated 0 A0A024R5G9 CTSF Cathepsin F ExAC,TOPMed,gnomAD rs768809245 cosmic curated [Cosmic]: large_intestine cosmic_study:376 11q13.2 11 66563946G> A null A V 389 389 missense 0.98 probably damaging 0.02 deleterious 1 A0A024R5G9 CTSF Cathepsin F Ensembl rs1590814421 11q13.2 11 66563943A> C null V G 390 390 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F Ensembl rs1590814414 11q13.2 11 66563940A> C null V G 391 391 missense 0.98 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F TOPMed,gnomAD rs1035656501 11q13.2 11 66563941C> T null V M 391 391 missense 0.936 probably damaging 0.0 deleterious 0 A0A024R5G9 CTSF Cathepsin F dbSNP,gnomAD rs397514732 [ClinVar]: Neuronal ceroid lipofuscinosis 13, [UniProt]: CLN13 pubmed:23297359 pubmed:23297359 11q13.2 11 66564095C> G null G A 458 458 missense 0 Ceroid lipofuscinosis, neuronal, 13 (Kufs type) (CLN13) A form of neuronal ceroid lipofuscinosis characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material. CLN13 inheritance is autosomal recessive. MIM:615362 pubmed:23297359 A0A024R5G9 CTSF Cathepsin F dbSNP,gnomAD rs397514732 [ClinVar]: Neuronal ceroid lipofuscinosis 13, [UniProt]: CLN13 pubmed:23297359 pubmed:23297359 11q13.2 11 66564095C> G null G A 458 458 missense 0 Neuronal ceroid lipofuscinosis 13 MIM:615362 ClinVar:RCV000054491 A0A024R5G9 CTSF Cathepsin F TOPMed,dbSNP,gnomAD rs397514733 [ClinVar]: Neuronal ceroid lipofuscinosis 13, [UniProt]: CLN13 pubmed:23297359 pubmed:23297359 11q13.2 11 66563949G> A null S L 480 480 missense 0 Ceroid lipofuscinosis, neuronal, 13 (Kufs type) (CLN13) A form of neuronal ceroid lipofuscinosis characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material. CLN13 inheritance is autosomal recessive. MIM:615362 pubmed:23297359 A0A024R5G9 CTSF Cathepsin F TOPMed,dbSNP,gnomAD rs397514733 [ClinVar]: Neuronal ceroid lipofuscinosis 13, [UniProt]: CLN13 pubmed:23297359 pubmed:23297359 11q13.2 11 66563949G> A null S L 480 480 missense 0 Neuronal ceroid lipofuscinosis 13 MIM:615362 ClinVar:RCV000054492 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1344395740 11q13.4 11 75151389C> A null P H 3 3 missense 0.975 probably damaging 0.0 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1344395740 11q13.4 11 75151389C> T null P L 3 3 missense 0.612 possibly damaging 0.0 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,TOPMed,gnomAD rs145530420 11q13.4 11 75151394A> T null I L 5 5 missense 0.046 benign 0.07 tolerated - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs151095859 11q13.4 11 75162655G> C null G A 6 6 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs151095859 11q13.4 11 75162655G> A null G E 6 6 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs776368842 11q13.4 11 75162657C> T null P S 7 7 missense 0.121 benign 0.12 tolerated - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs181644851 11q13.4 11 75162661C> T null A V 8 8 0.000399 missense 0.013 benign 0.7 tolerated - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1053153998 11q13.4 11 75162664G> C null G A 9 9 missense 0.186 benign 0.02 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1053153998 11q13.4 11 75162664G> T null G V 9 9 missense 0.344 benign 0.0 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC rs201671639 11q13.4 11 75162668G> T null E D 10 10 0.0002 missense 0.547 possibly damaging 0.02 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1450364580 11q13.4 11 75162667A> T null E V 10 10 missense 0.335 benign 0.0 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1284999216 11q13.4 11 75162673C> A null P H 12 12 missense 0.569 possibly damaging 0.01 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1565533283 11q13.4 11 75162675C> T null Q * 13 13 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1350030576 11q13.4 11 75162676A> G null Q R 13 13 missense 0.018 benign 0.06 tolerated - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1331570880 11q13.4 11 75162679T> C null V A 14 14 missense 0.097 benign 0.01 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs56837383 11q13.4 11 75162681C> G null P A 15 15 0.002796 missense 0.041 benign 0.06 tolerated - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs56837383 11q13.4 11 75162681C> T null P S 15 15 0.002796 missense 0.042 benign 0.12 tolerated - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1290540695 11q13.4 11 75162685A> C null D A 16 16 missense 0.598 possibly damaging 0.02 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs768055058 11q13.4 11 75162686C> G null D E 16 16 missense 0.03 benign 0.18 tolerated - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs768055058 11q13.4 11 75162686C> A null D E 16 16 missense 0.03 benign 0.18 tolerated - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1415488357 11q13.4 11 75162691A> C null E A 18 18 missense 0.097 benign 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1427898621 11q13.4 11 75162694C> T null T I 19 19 missense 0.02 benign 0.4 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs750481996 cosmic curated [Cosmic]: lung pubmed:22941188,cosmic_study:423 11q13.4 11 75162699G> A null A T 21 21 missense 0.042 benign 0.33 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs760767910 11q13.4 11 75162700C> T null A V 21 21 missense 0.024 benign 0.48 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs754098731 11q13.4 11 75162706T> C null M T 23 23 missense 0.013 benign 0.16 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs766548153 11q13.4 11 75162705A> G null M V 23 23 missense 0.007 benign 0.19 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,gnomAD rs528731324 11q13.4 11 75162711A> G null T A 25 25 0.0002 missense 0.012 benign 0.56 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs778758110 11q13.4 11 75162714G> A null E K 26 26 missense 0.462 possibly damaging 0.15 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs778758110 11q13.4 11 75162714G> C null E Q 26 26 missense 0.956 probably damaging 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs752503707 11q13.4 11 75162718A> G null N S 27 27 missense 0.003 benign 0.34 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,gnomAD rs150221994 11q13.4 11 75162723C> G null P A 29 29 missense 0.012 benign 0.13 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs746464858 11q13.4 11 75162724C> T null P L 29 29 missense 0.287 benign 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,gnomAD rs150221994 11q13.4 11 75162723C> T null P S 29 29 missense 0.02 benign 0.17 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs998397411 cosmic curated [Cosmic]: urinary_tract cosmic_study:413 11q13.4 11 75162742C> T null P L 35 35 missense 0.018 benign 0.05 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1370049934 11q13.4 11 75162746C> A null D E 36 36 missense 0.001 benign 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs770592117 11q13.4 11 75162744G> C null D H 36 36 missense 0.012 benign 0.1 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs761666858 11q13.4 11 75162748C> G null P R 37 37 missense 0.481 possibly damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1387966892 11q13.4 11 75162747C> A null P T 37 37 missense 0.034 benign 0.08 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1408186577 11q13.4 11 75162751A> C null Q P 38 38 missense 0.713 possibly damaging 0.05 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs780641592 11q13.4 11 75162756G> A null V M 40 40 missense 0.027 benign 0.24 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs769389079 11q13.4 11 75162760G> A null R Q 41 41 missense 0.012 benign 0.12 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs745547277 11q13.4 11 75162759C> T null R W 41 41 missense 0.814 possibly damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs765170000 11q13.4 11 75162775A> T null H L 46 46 missense 0.03 benign 0.78 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs765170000 11q13.4 11 75162775A> G null H R 46 46 missense 0.586 possibly damaging 0.36 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1591810669 11q13.4 11 75162774C> T null H Y 46 46 missense 0.018 benign 0.87 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1017289678 11q13.4 11 75162779C> A null N K 47 47 missense 0.182 benign 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs772520935 11q13.4 11 75162782C> G null I M 48 48 missense 0.847 possibly damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs533776004 11q13.4 11 75162780A> G null I V 48 48 missense 0.073 benign 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs767405995 11q13.4 11 75163964T> C null L P 50 50 missense 0.543 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs767405995 11q13.4 11 75163964T> A null L Q 50 50 missense 0.642 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,gnomAD rs551118953 11q13.4 11 75163969G> A null V I 52 52 0.0002 missense 0.078 benign 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1185676094 11q13.4 11 75163978C> T null H Y 55 55 missense 0.959 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1370489724 11q13.4 11 75163981A> G null S G 56 56 missense 0.205 benign 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs995575292 11q13.4 11 75163988T> A null L Q 58 58 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1027104068 11q13.4 11 75163994T> A null L Q 60 60 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs778109080 11q13.4 11 75163997C> G null A G 61 61 missense 0.613 possibly damaging 0.07 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs778109080 11q13.4 11 75163997C> T null A V 61 61 missense 0.062 benign 0.09 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1356915639 11q13.4 11 75164005A> G null M V 64 64 missense 0.749 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1287449612 11q13.4 11 75164012C> T null S F 66 66 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1217835956 11q13.4 11 75164014G> A null G S 67 67 missense 0.828 possibly damaging 0.11 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs769764109 11q13.4 11 75164021T> C null L P 69 69 missense 0.519 possibly damaging 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1259715798 11q13.4 11 75164025G> C null K N 70 70 missense 0.929 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1198736683 11q13.4 11 75164024A> G null K R 70 70 missense 0.944 probably damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs763253658 11q13.4 11 75164026A> G null S G 71 71 missense 0.073 benign 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1410174244 11q13.4 11 75164033T> C null I T 73 73 missense 0.944 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,gnomAD rs371781051 11q13.4 11 75164041G> A null V M 76 76 missense 0.92 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl,dbSNP rs865987804 cosmic curated [Cosmic]: skin, [UniProt]: a breast cancer sample; somatic mutation pubmed:16959974 pubmed:22842228,cosmic_study:511 11q13.4 11 75172507G> A null E K 77 77 missense 0.958 probably damaging 0.04 deleterious 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs774254668 11q13.4 11 75164050C> T null R C 79 79 missense 0.987 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs761537748 11q13.4 11 75164051G> A null R H 79 79 missense 0.987 probably damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1414989882 11q13.4 11 75164057G> A null G D 81 81 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs750333137 11q13.4 11 75164056G> A null G S 81 81 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1323868636 11q13.4 11 75164062T> G null S A 83 83 missense 0.628 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs765864501 11q13.4 11 75164065A> G null S G 84 84 missense 0.91 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1307448279 11q13.4 11 75164066G> A null S N 84 84 missense 0.97 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs765864501 11q13.4 11 75164065A> C null S R 84 84 missense 0.98 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs140953109 11q13.4 11 75164072C> A null T K 86 86 0.000599 missense 0.872 possibly damaging 0.26 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs140953109 11q13.4 11 75164072C> T null T M 86 86 0.000599 missense 0.918 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs140953109 11q13.4 11 75164072C> G null T R 86 86 0.000599 missense 0.952 probably damaging 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1282514172 11q13.4 11 75164075C> T null S L 87 87 missense 0.82 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1003833651 11q13.4 11 75164078G> A null G E 88 88 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1014990551 11q13.4 11 75164080C> A null L M 89 89 missense 1.0 probably damaging 0.05 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs560919223 11q13.4 11 75164081T> A null L Q 89 89 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs757591216 11q13.4 11 75164083C> G null L V 90 90 missense 0.999 probably damaging 0.05 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1431906824 11q13.4 11 75164095A> G null N D 94 94 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1396343977 11q13.4 11 75164098G> A null E K 95 95 missense 0.343 benign 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1464804211 11q13.4 11 75165787G> A null V M 96 96 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs780753438 11q13.4 11 75165793A> G null N D 98 98 missense 0.911 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1336953463 11q13.4 11 75165800C> T null A V 100 100 missense 0.598 possibly damaging 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs749340894 11q13.4 11 75165821A> C null Y S 107 107 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142693902 11q13.4 11 75165833G> T null R L 111 111 0.000399 missense 0.682 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142693902 11q13.4 11 75165833G> A null R Q 111 111 0.000399 missense 0.948 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1040627675 11q13.4 11 75165832C> T null R W 111 111 missense 0.992 probably damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1362956420 11q13.4 11 75165836T> G null V G 112 112 missense 0.923 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs779220150 11q13.4 11 75165835G> T null V L 112 112 missense 0.839 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs772408748 11q13.4 11 75165841C> T null R * 114 114 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs772856687 cosmic curated [Cosmic]: central_nervous_system cosmic_study:329 11q13.4 11 75165842G> A null R Q 114 114 missense 0.974 probably damaging 0.0 deleterious 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs148248368 11q13.4 11 75165844C> T null P S 115 115 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs148248368 11q13.4 11 75165844C> A null P T 115 115 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs758977546 11q13.4 11 75165847C> T null R * 116 116 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs764735701 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:24241536,cosmic_study:571 11q13.4 11 75165848G> A null R Q 116 116 missense 0.964 probably damaging 0.0 deleterious 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1377178704 cosmic curated [Cosmic]: endometrium cosmic_study:419 11q13.4 11 75165852G> A null M I 117 117 missense 0.022 benign 0.08 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP rs367913899 11q13.4 11 75165850A> G null M V 117 117 missense 0.025 benign 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed rs141178021 11q13.4 11 75165854T> G null I S 118 118 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed rs141178021 11q13.4 11 75165854T> C null I T 118 118 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs762506817 11q13.4 11 75165856G> C null G R 119 119 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs763847000 11q13.4 11 75165863G> A null G E 121 121 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs766728788 11q13.4 11 75165871C> T null L F 124 124 missense 0.976 probably damaging 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1448214443 11q13.4 11 75165872T> C null L P 124 124 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC rs371587955 11q13.4 11 75165875T> C null V A 125 125 missense 0.207 benign 0.29 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs754410339 11q13.4 11 75165880C> G null L V 127 127 missense 0.073 benign 0.16 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs755602252 11q13.4 11 75165884C> A null A E 128 128 missense 0.958 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs755602252 11q13.4 11 75165884C> T null A V 128 128 missense 0.959 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1418283706 11q13.4 11 75165886G> T null G C 129 129 missense 0.987 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1247802515 11q13.4 11 75165897G> A null M I 132 132 missense 0.997 probably damaging 0.1 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1175843238 11q13.4 11 75165896T> G null M R 132 132 missense 0.999 probably damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs778081546 11q13.4 11 75165895A> G null M V 132 132 missense 0.995 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1591813319 11q13.4 11 75165901C> G null L V 134 134 missense 0.094 benign 0.18 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1401232471 11q13.4 11 75165904C> G null P A 135 135 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs746738259 11q13.4 11 75165905C> T null P L 135 135 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1220893206 11q13.4 11 75165913A> T null I F 138 138 missense 0.847 possibly damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs776490379 11q13.4 11 75165917C> T null S L 139 139 missense 0.291 benign 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1275367891 11q13.4 11 75165919G> C null E Q 140 140 missense 0.844 possibly damaging 0.19 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1350239621 11q13.4 11 75165922C> G null P A 141 141 missense 0.782 possibly damaging 0.07 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC rs769789363 11q13.4 11 75165926A> G null Y C 142 142 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,gnomAD rs375353895 11q13.4 11 75165928C> T null R C 143 143 missense 0.969 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78648789 11q13.4 11 75165929G> A null R H 143 143 0.0002 missense 0.078 benign 0.17 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78648789 11q13.4 11 75165929G> T null R L 143 143 0.0002 missense 0.93 probably damaging 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,gnomAD rs375353895 11q13.4 11 75165928C> A null R S 143 143 missense 0.277 benign 0.1 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs368465543 11q13.4 11 75165931T> G null Y D 144 144 missense 0.985 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,TOPMed,gnomAD rs145010543 11q13.4 11 75165934G> A null D N 145 145 missense 0.329 benign 0.05 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs754322215 11q13.4 11 75165940A> G null T A 147 147 missense 0.012 benign 0.48 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs561594626 11q13.4 11 75165941C> T null T I 147 147 0.000399 missense 0.029 benign 0.12 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1433598794 11q13.4 11 75165946C> T null P S 149 149 missense 0.02 benign 0.7 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs765826108 11q13.4 11 75165949G> C null E Q 150 150 missense 0.713 possibly damaging 0.56 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC rs762880709 11q13.4 11 75169176A> T null D V 151 151 missense 0.339 benign 0.24 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1455536333 11q13.4 11 75169182C> T null P L 153 153 missense 0.018 benign 0.38 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1450430558 11q13.4 11 75169192C> A null F L 156 156 missense 0.012 benign 0.66 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1228243182 11q13.4 11 75169194A> G null K R 157 157 missense 0.015 benign 0.42 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs889870412 11q13.4 11 75169196G> C null A P 158 158 missense 0.011 benign 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1591815875 11q13.4 11 75169200C> A null S Y 159 159 missense 0.985 probably damaging 0.11 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1399675655 11q13.4 11 75169206G> T null C F 161 161 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1276519411 11q13.4 11 75169205T> C null C R 161 161 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1460619782 11q13.4 11 75169209T> G null L R 162 162 missense 0.847 possibly damaging 0.33 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs757438513 11q13.4 11 75169212C> A null P H 163 163 missense 0.952 probably damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs757438513 11q13.4 11 75169212C> T null P L 163 163 missense 0.073 benign 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1041268284 11q13.4 11 75169211C> A null P T 163 163 missense 0.121 benign 0.09 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs368918877 11q13.4 11 75169215C> A null T K 164 164 missense 0.012 benign 0.92 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1555138824 11q13.4 11 75169217A> G null T A 165 165 missense 0.003 benign 0.91 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1555138824 11q13.4 11 75169217A> C null T P 165 165 missense 0.011 benign 0.27 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs750167927 cosmic curated [Cosmic]: urinary_tract, [Cosmic]: large_intestine pubmed:22895193,pubmed:24121792,cosmic_study:452,cosmic_study:557,cosmic_study:581 11q13.4 11 75169221C> T null S L 166 166 missense 0.007 benign 0.36 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs749237533 11q13.4 11 75169224C> A null A D 167 167 missense 0.073 benign 0.4 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC rs373743485 11q13.4 11 75169229G> A null A T 169 169 missense 0.018 benign 0.55 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs778535776 11q13.4 11 75169233C> T null S L 170 170 missense 0.0 benign 0.36 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1271629028 11q13.4 11 75169235G> T null A S 171 171 missense 0.381 benign 0.85 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs771806175 11q13.4 11 75169236C> T null A V 171 171 missense 0.03 benign 0.32 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes rs182191826 11q13.4 11 75169238C> T null P S 172 172 0.0002 missense 0.02 benign 0.52 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs759916743 11q13.4 11 75169245A> T null N I 174 174 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1018513636 11q13.4 11 75169246T> G null N K 174 174 missense 0.999 probably damaging 0.08 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs759916743 11q13.4 11 75169245A> G null N S 174 174 missense 0.999 probably damaging 0.17 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1469722445 11q13.4 11 75169248G> A null G D 175 175 missense 0.011 benign 0.61 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs957697636 cosmic curated [Cosmic]: endometrium cosmic_study:419 11q13.4 11 75169263A> G null Y C 180 180 missense 0.646 possibly damaging 0.17 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs140159487 11q13.4 11 75169270A> C null E D 182 182 missense 0.615 possibly damaging 0.24 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1023345633 11q13.4 11 75169274C> T null Q * 184 184 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs113701638 11q13.4 11 75169277C> G null H D 185 185 missense 0.967 probably damaging 0.17 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs750647248 11q13.4 11 75169278A> C null H P 185 185 missense 0.989 probably damaging 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs113701638 11q13.4 11 75169277C> T null H Y 185 185 missense 0.984 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs779894847 11q13.4 11 75169281T> C null L P 186 186 missense 0.851 possibly damaging 0.23 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs779894847 11q13.4 11 75169281T> A null L Q 186 186 missense 0.888 possibly damaging 0.38 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs753616277 11q13.4 11 75169283A> C null S R 187 187 missense 0.104 benign 0.38 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,gnomAD rs201813282 11q13.4 11 75169287T> C null V A 188 188 0.0002 missense 0.009 benign 0.11 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs754924730 cosmic curated [Cosmic]: bone pubmed:23770606,cosmic_study:486 11q13.4 11 75169286G> A null V M 188 188 missense 0.068 benign 0.39 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1328627706 11q13.4 11 75169292G> A null G R 190 190 missense 0.992 probably damaging 0.37 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1326593699 11q13.4 11 75169295A> G null I V 191 191 missense 0.045 benign 0.4 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs747623736 11q13.4 11 75169299T> C null M T 192 192 missense 0.877 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1464659355 11q13.4 11 75169298A> G null M V 192 192 missense 0.511 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs553595767 11q13.4 11 75169303C> G null F L 193 193 0.0002 missense 0.149 benign 0.47 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed rs145304530 11q13.4 11 75169301T> C null F L 193 193 missense 0.149 benign 0.47 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs775889132 11q13.4 11 75169305T> C null V A 194 194 missense 0.007 benign 0.15 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs770552231 cosmic curated [Cosmic]: lung cosmic_study:417 11q13.4 11 75169304G> A null V M 194 194 missense 0.026 benign 0.38 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs75987864 11q13.4 11 75169312G> C null Q H 196 196 0.00599 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1236903673 11q13.4 11 75169311A> G null Q R 196 196 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35199625 cosmic curated [Cosmic]: central_nervous_system pubmed:23917401,cosmic_study:552 11q13.4 11 75169325G> A null V M 201 201 0.02576 missense 0.921 probably damaging 0.0 deleterious 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC rs767572143 11q13.4 11 75169331G> A null G R 203 203 missense 0.678 possibly damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1255154873 11q13.4 11 75169332G> T null G V 203 203 missense 0.02 benign 0.15 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC rs767572143 11q13.4 11 75169331G> T null G W 203 203 missense 0.933 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs773348240 11q13.4 11 75169340A> G null I V 206 206 missense 0.998 probably damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs374600854 11q13.4 11 75169358T> G null S A 212 212 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1159065092 11q13.4 11 75169362A> G null Y C 213 213 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs375650742 11q13.4 11 75169364A> G null I V 214 214 missense 0.998 probably damaging 0.33 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1159746186 11q13.4 11 75169367G> A null D N 215 215 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs72559740 11q13.4 11 75169368A> T null D V 215 215 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1385088765 11q13.4 11 75169374T> A null F Y 217 217 missense 0.999 probably damaging 0.15 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1335747101 11q13.4 11 75169381C> G null H Q 219 219 missense 1.0 probably damaging 0.16 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,TOPMed,gnomAD rs370297980 11q13.4 11 75169380A> G null H R 219 219 missense 1.0 probably damaging 0.12 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1412362213 11q13.4 11 75169387C> A null S R 221 221 missense 0.059 benign 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs202235884 11q13.4 11 75169392C> T null S L 223 223 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1020352224 11q13.4 11 75169404T> A null L H 227 227 missense 0.979 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs746538003 11q13.4 11 75169406G> A null G R 228 228 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs746538003 11q13.4 11 75169406G> T null G W 228 228 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1591816399 11q13.4 11 75169669T> A null I N 229 229 missense 0.967 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1453133342 11q13.4 11 75169680G> A null V M 233 233 missense 0.382 benign 0.08 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1191154665 11q13.4 11 75169684C> T null T I 234 234 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1454426443 11q13.4 11 75169688G> C null M I 235 235 missense 0.012 benign 0.14 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs745520331 11q13.4 11 75169686A> G null M V 235 235 missense 0.087 benign 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1352533205 11q13.4 11 75169693G> C null G A 237 237 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs368444230 11q13.4 11 75169692G> A null G R 237 237 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1298535685 11q13.4 11 75169696C> T null P L 238 238 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs779219127 11q13.4 11 75169695C> T null P S 238 238 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs140630595 11q13.4 11 75169701C> G null L V 240 240 missense 0.055 benign 0.79 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1214182664 11q13.4 11 75169714T> A null L Q 244 244 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1333384266 11q13.4 11 75169722C> T null L F 247 247 missense 0.16 benign 0.35 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs762316212 cosmic curated [Cosmic]: large_intestine cosmic_study:375 11q13.4 11 75169731C> T null R C 250 250 missense 0.981 probably damaging 0.0 deleterious 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs776833873 11q13.4 11 75169732G> A null R H 250 250 missense 0.981 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1177500336 11q13.4 11 75169753A> G null Q R 257 257 missense 0.0 benign 0.99 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs897617888 11q13.4 11 75169756T> C null M T 258 258 missense 0.885 possibly damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,gnomAD rs368772615 11q13.4 11 75172379G> A null G D 261 261 missense 0.638 possibly damaging 0.62 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs371427807 11q13.4 11 75172382G> C null G A 262 262 missense 1.0 probably damaging 0.51 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1414353313 11q13.4 11 75172381G> A null G S 262 262 missense 1.0 probably damaging 0.32 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1156965454 11q13.4 11 75172384A> T null I F 263 263 missense 0.945 probably damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs762768069 11q13.4 11 75172385T> C null I T 263 263 missense 0.856 possibly damaging 0.07 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1431726367 11q13.4 11 75172387A> T null S C 264 264 missense 0.919 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs774259845 11q13.4 11 75172393A> G null T A 266 266 missense 0.991 probably damaging 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs761625607 11q13.4 11 75172394C> A null T N 266 266 missense 0.919 probably damaging 0.09 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs761625607 11q13.4 11 75172394C> G null T S 266 266 missense 0.983 probably damaging 0.38 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs749887671 11q13.4 11 75172403A> C null D A 269 269 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs767540264 11q13.4 11 75172402G> C null D H 269 269 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs749887671 11q13.4 11 75172403A> T null D V 269 269 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,gnomAD rs562515081 11q13.4 11 75172409G> A null R Q 271 271 0.0002 missense 0.366 benign 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1279242806 11q13.4 11 75172411T> G null W G 272 272 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs753504866 11q13.4 11 75172412G> T null W L 272 272 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1279242806 11q13.4 11 75172411T> A null W R 272 272 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs754721606 11q13.4 11 75172415T> C null V A 273 273 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs777998803 11q13.4 11 75172420G> T null A S 275 275 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1175462094 11q13.4 11 75172432G> A null G S 279 279 missense 0.819 possibly damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC rs751991584 11q13.4 11 75172438C> T null L F 281 281 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs781732705 11q13.4 11 75172444G> A null A T 283 283 missense 0.373 benign 0.14 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150167315 cosmic curated [Cosmic]: prostate cosmic_study:435 11q13.4 11 75172450G> A null G S 285 285 0.002396 missense 0.366 benign 0.74 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1440614236 11q13.4 11 75172460C> T null A V 288 288 missense 0.108 benign 0.75 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1281835753 11q13.4 11 75172465G> A null A T 290 290 missense 0.767 possibly damaging 0.99 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1467258060 11q13.4 11 75172468G> A null A T 291 291 missense 0.953 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1279006396 11q13.4 11 75172478A> G null Y C 294 294 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1279006396 11q13.4 11 75172478A> T null Y F 294 294 missense 0.999 probably damaging 0.26 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs773995538 11q13.4 11 75172480T> A null F I 295 295 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1279042347 11q13.4 11 75172485C> A null F L 296 296 missense 0.999 probably damaging 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1437075801 11q13.4 11 75172493A> G null K R 299 299 missense 0.007 benign 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs760122376 11q13.4 11 75172500G> T null M I 301 301 missense 0.702 possibly damaging 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs773139597 11q13.4 11 75172499T> C null M T 301 301 missense 0.913 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1393379855 11q13.4 11 75172504A> T null K * 303 303 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1455720050 11q13.4 11 75172508A> G null E G 304 304 missense 1.0 probably damaging 0.14 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs527915181 11q13.4 11 75172513C> T null R C 306 306 0.0002 missense 0.001 benign 0.05 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78825186 11q13.4 11 75172514G> A null R H 306 306 0.005591 missense 0.0 benign 0.54 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs867895882 11q13.4 11 75172522C> T null Q * 309 309 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs759076545 11q13.4 11 75172526T> A null F Y 310 310 missense 0.908 possibly damaging 0.43 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,gnomAD rs564410502 11q13.4 11 75172529G> C null R P 311 311 0.0002 missense 0.822 possibly damaging 0.15 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,gnomAD rs564410502 cosmic curated [Cosmic]: lung cosmic_study:583 11q13.4 11 75172529G> A null R Q 311 311 0.0002 missense 0.022 benign 0.33 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs764985441 11q13.4 11 75172528C> T null R W 311 311 missense 0.021 benign 0.14 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1440864317 11q13.4 11 75172531C> T null R * 312 312 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs12422149 11q13.4 11 75172532G> T null R Q 312 312 0.2099 missense 0.034 benign 0.14 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs12422149 11q13.4 11 75172532G> A null R Q 312 312 0.2099 missense 0.022 benign 0.4 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs773942861 11q13.4 11 75172538T> C null V A 314 314 missense 0.005 benign 0.43 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1234944677 11q13.4 11 75172544C> T null A V 316 316 missense 0.044 benign 0.12 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs756742803 11q13.4 11 75172546G> A null V I 317 317 missense 0.003 benign 0.55 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs756742803 11q13.4 11 75172546G> C null V L 317 317 missense 0.007 benign 0.76 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs909561788 11q13.4 11 75172549A> G null T A 318 318 missense 0.001 benign 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs199654337 11q13.4 11 75172550C> T null T I 318 318 missense 0.005 benign 0.34 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs199654337 11q13.4 11 75172550C> G null T R 318 318 missense 0.246 benign 0.42 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1458124137 11q13.4 11 75172553A> G null D G 319 319 missense 0.149 benign 0.36 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs779228894 11q13.4 11 75172559C> T null P L 321 321 missense 0.094 benign 0.13 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,gnomAD rs373522915 11q13.4 11 75172561G> C null A P 322 322 missense 0.622 possibly damaging 0.15 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1372654057 11q13.4 11 75172568A> G null K R 324 324 missense 0.059 benign 0.13 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1028704319 11q13.4 11 75188137G> T null G V 325 325 missense 0.03 benign 0.15 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs762662713 11q13.4 11 75188143A> G null D G 327 327 missense 0.012 benign 0.09 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs768464119 11q13.4 11 75188146C> G null S C 328 328 missense 0.078 benign 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1291223663 11q13.4 11 75188152C> G null S C 330 330 missense 0.646 possibly damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1306921828 11q13.4 11 75188160A> C null S R 333 333 missense 0.007 benign 0.26 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1342142211 11q13.4 11 75188163C> G null P A 334 334 missense 0.05 benign 0.59 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs773663668 11q13.4 11 75188169G> T null E * 336 336 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs761153901 11q13.4 11 75188170A> G null E G 336 336 missense 0.02 benign 0.05 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs761153901 11q13.4 11 75188170A> T null E V 336 336 missense 0.029 benign 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1332596112 11q13.4 11 75188173C> A null S Y 337 337 missense 0.007 benign 0.15 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs199595373 11q13.4 11 75188176C> T null T M 338 338 missense 0.379 benign 0.1 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs760021739 11q13.4 11 75188180G> C null K N 339 339 missense 0.007 benign 0.25 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs555605508 11q13.4 11 75188183G> C null K N 340 340 missense 0.162 benign 0.11 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs971935565 11q13.4 11 75188189T> A null D E 342 342 missense 0.003 benign 0.42 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs752763309 11q13.4 11 75188188A> G null D G 342 342 missense 0.007 benign 0.09 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs928502913 11q13.4 11 75188191G> A null G D 343 343 missense 0.041 benign 0.6 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1424877096 11q13.4 11 75188196G> A null V I 345 345 missense 0.005 benign 0.21 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs758601411 11q13.4 11 75188203T> C null I T 347 347 missense 0.287 benign 0.21 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs777989657 11q13.4 11 75188206C> T null A V 348 348 missense 0.69 possibly damaging 0.14 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs147131265 11q13.4 11 75188212A> C null N T 350 350 missense 0.253 benign 0.07 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1360702702 11q13.4 11 75188221T> C null V A 353 353 missense 0.106 benign 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1433738090 11q13.4 11 75188226C> T null Q * 355 355 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs377133671 11q13.4 11 75188231C> A null F L 356 356 missense 0.944 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1476301449 11q13.4 11 75188232A> C null I L 357 357 missense 0.065 benign 0.37 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC rs745803025 11q13.4 11 75188237A> C null K N 358 358 missense 0.786 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs764231184 11q13.4 11 75193218T> C null V A 359 359 missense 0.065 benign 0.52 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1016906501 11q13.4 11 75188238G> A null V I 359 359 missense 0.065 benign 0.4 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs781034608 11q13.4 11 75193224C> A null P H 361 361 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs781034608 11q13.4 11 75193224C> T null P L 361 361 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs757531078 11q13.4 11 75193223C> T null P S 361 361 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs750224640 11q13.4 11 75193227G> A null R K 362 362 missense 0.009 benign 0.26 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1427726087 11q13.4 11 75193233T> C null L P 364 364 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1267936377 11q13.4 11 75193236T> C null L P 365 365 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs756056146 11q13.4 11 75193242C> T null T I 367 367 missense 0.571 possibly damaging 0.21 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1467693247 11q13.4 11 75193245T> C null L P 368 368 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs543049597 11q13.4 11 75193247C> T null R C 369 369 0.000399 missense 0.171 benign 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs141975187 11q13.4 11 75193248G> A null R H 369 369 missense 0.939 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1376704258 11q13.4 11 75193250C> G null H D 370 370 missense 1.0 probably damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs200134899 11q13.4 11 75193254C> A null P H 371 371 0.0002 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs200134899 11q13.4 11 75193254C> T null P L 371 371 0.0002 missense 0.978 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs200134899 11q13.4 11 75193254C> G null P R 371 371 0.0002 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1464293583 11q13.4 11 75193256A> G null I V 372 372 missense 0.38 benign 0.73 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1003105244 11q13.4 11 75193260T> C null F S 373 373 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs747800964 11q13.4 11 75193266T> C null L P 375 375 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1218365501 11q13.4 11 75193269T> C null V A 376 376 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs375930243 11q13.4 11 75193283G> A null V I 381 381 missense 0.698 possibly damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs375930243 11q13.4 11 75193283G> T null V L 381 381 missense 0.149 benign 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1385646201 11q13.4 11 75193286T> C null C R 382 382 missense 0.984 probably damaging 0.07 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1295373038 11q13.4 11 75193287G> A null C Y 382 382 missense 0.992 probably damaging 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1366990088 11q13.4 11 75193295T> C null S P 385 385 missense 0.972 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs980143851 11q13.4 11 75193298A> T null M L 386 386 missense 0.012 benign 0.26 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs980143851 11q13.4 11 75193298A> C null M L 386 386 missense 0.012 benign 0.26 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs959270143 11q13.4 11 75193305C> T null A V 388 388 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs372375909 11q13.4 11 75193311T> C null M T 390 390 missense 0.05 benign 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,gnomAD rs1621378 11q13.4 11 75193317C> A null T N 392 392 missense 0.974 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1591833335 11q13.4 11 75193316A> C null T P 392 392 missense 0.974 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,dbSNP,gnomAD rs1621378 pubmed:10048485,pubmed:10873595,pubmed:14702039,pubmed:15489334,pubmed:17974005 11q13.4 11 75193317C> T null I T 392 392 missense 0.585 possibly damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149821342 11q13.4 11 75193326C> A null P H 395 395 0.0002 missense 1.0 probably damaging 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1378049844 11q13.4 11 75193331T> C null F L 397 397 missense 0.692 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs750183458 11q13.4 11 75193332T> A null F Y 397 397 missense 0.959 probably damaging 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs938789487 11q13.4 11 75193335T> C null L P 398 398 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs938789487 11q13.4 11 75193335T> G null L R 398 398 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs772797787 11q13.4 11 75193340C> T null R C 400 400 missense 0.969 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs777679616 11q13.4 11 75193341G> A null R H 400 400 missense 0.112 benign 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs755034833 11q13.4 11 75193353T> G null I S 404 404 missense 0.877 possibly damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs930239811 11q13.4 11 75193355A> G null T A 405 405 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs747713084 11q13.4 11 75193356C> T null T I 405 405 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs749031335 11q13.4 11 75193358G> A null A T 406 406 missense 0.999 probably damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1387692248 11q13.4 11 75193361T> C null S P 407 407 missense 0.16 benign 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs368538607 11q13.4 11 75193364T> C null Y H 408 408 missense 0.956 probably damaging 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1342617461 11q13.4 11 75193368C> A null A D 409 409 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1040286463 11q13.4 11 75193367G> A null A T 409 409 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1230478260 11q13.4 11 75193371A> G null N S 410 410 missense 0.999 probably damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1230478260 11q13.4 11 75193371A> C null N T 410 410 missense 0.999 probably damaging 0.09 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs762752722 11q13.4 11 75193380T> C null I T 413 413 missense 0.92 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs921877534 11q13.4 11 75193379A> G null I V 413 413 missense 0.628 possibly damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs111782322 11q13.4 11 75193382G> C null G R 414 414 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs111782322 11q13.4 11 75193382G> A null G S 414 414 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs769193802 11q13.4 11 75193387C> G null C W 415 415 missense 0.882 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs761821836 11q13.4 11 75193392C> T null S F 417 417 missense 0.481 possibly damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs773318962 11q13.4 11 75193395T> A null F Y 418 418 missense 0.225 benign 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1206949282 11q13.4 11 75193398C> T null P L 419 419 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs200453426 11q13.4 11 75193401C> T null S L 420 420 missense 0.003 benign 0.39 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1489073015 11q13.4 11 75193400T> C null S P 420 420 missense 0.622 possibly damaging 0.09 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs200453426 11q13.4 11 75193401C> G null S W 420 420 missense 0.902 possibly damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs765284410 11q13.4 11 75193409G> C null V L 423 423 missense 0.017 benign 0.79 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs765284410 11q13.4 11 75193409G> A null V M 423 423 missense 0.072 benign 0.12 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs777429800 11q13.4 11 75193419T> C null V A 426 426 missense 0.615 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs757854988 11q13.4 11 75193418G> A null V M 426 426 missense 0.397 benign 0.05 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs751161747 11q13.4 11 75193421G> T null V L 427 427 missense 0.018 benign 0.68 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs757004014 11q13.4 11 75193425G> A null G D 428 428 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1420576123 11q13.4 11 75193424G> A null G S 428 428 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs374986387 11q13.4 11 75193430G> A null V I 430 430 missense 0.007 benign 0.96 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs779427466 11q13.4 11 75193436G> A null V I 432 432 missense 0.113 benign 0.07 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1591833560 11q13.4 11 75193439A> G null K E 433 433 missense 0.869 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC rs748200665 11q13.4 11 75193440A> G null K R 433 433 missense 0.903 possibly damaging 0.22 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs773407118 11q13.4 11 75193443G> A null R Q 434 434 missense 0.959 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs367795991 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 11q13.4 11 75193442C> T null R W 434 434 missense 0.988 probably damaging 0.0 deleterious 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1216935832 11q13.4 11 75193446T> C null L P 435 435 missense 0.991 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1021989150 11q13.4 11 75193445C> G null L V 435 435 missense 0.894 possibly damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1591833586 11q13.4 11 75193449A> C null H P 436 436 missense 0.791 possibly damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs771325791 11q13.4 11 75193450C> G null H Q 436 436 missense 0.073 benign 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs760774939 11q13.4 11 75193448C> T null H Y 436 436 missense 0.791 possibly damaging 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1237927718 11q13.4 11 75193455G> A null G D 438 438 missense 0.786 possibly damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs759431902 11q13.4 11 75193464G> A null G E 441 441 missense 0.062 benign 0.27 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1243027542 11q13.4 11 75193466T> C null C R 442 442 missense 0.944 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs752593740 11q13.4 11 75193469G> A null G S 443 443 missense 0.007 benign 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1173314250 11q13.4 11 75193470G> T null G V 443 443 missense 0.007 benign 0.26 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs763008797 11q13.4 11 75193482T> C null L P 447 447 missense 0.979 probably damaging 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1354410447 11q13.4 11 75193488G> A null G E 449 449 missense 0.954 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs751122652 11q13.4 11 75193490A> T null M L 450 450 missense 0.001 benign 0.32 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1328647989 11q13.4 11 75193494T> C null L P 451 451 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs756839464 11q13.4 11 75193497T> C null L P 452 452 missense 0.73 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1240404717 11q13.4 11 75193499T> C null C R 453 453 missense 0.642 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs965832666 11q13.4 11 75193502C> T null L F 454 454 missense 0.978 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1591833634 11q13.4 11 75193509T> C null F S 456 456 missense 0.521 possibly damaging 0.39 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs975940872 11q13.4 11 75193511A> G null S G 457 457 missense 0.018 benign 0.12 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1591833644 11q13.4 11 75193512G> C null S T 457 457 missense 0.031 benign 0.15 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes rs537776354 11q13.4 11 75193514C> A null L M 458 458 0.0002 missense 0.935 probably damaging 0.11 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1220692334 11q13.4 11 75193515T> C null L P 458 458 missense 0.952 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed rs755350290 11q13.4 11 75193518C> T null P L 459 459 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs772180722 11q13.4 11 75193520C> T null L F 460 460 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs764506717 11q13.4 11 75193523T> A null F I 461 461 missense 0.999 probably damaging 0.05 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs764506717 11q13.4 11 75193523T> G null F V 461 461 missense 0.999 probably damaging 0.09 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs771234191 cosmic curated [Cosmic]: large_intestine cosmic_study:376 11q13.4 11 75193532G> A null G S 464 464 missense 1.0 probably damaging 0.0 deleterious 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs776993592 11q13.4 11 75193537C> G null C W 465 465 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1389051572 11q13.4 11 75193544C> A null H N 468 468 missense 0.913 probably damaging 0.05 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs146532688 11q13.4 11 75193554C> A null A E 471 471 missense 0.442 benign 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs146532688 11q13.4 11 75193554C> T null A V 471 471 missense 0.312 benign 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1401837267 11q13.4 11 75193556G> A null G S 472 472 missense 0.933 probably damaging 0.07 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs764144223 11q13.4 11 75193563C> T null T I 474 474 missense 0.005 benign 0.37 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs761344728 11q13.4 11 75193570G> C null Q H 476 476 missense 0.019 benign 0.2 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs761344728 11q13.4 11 75193570G> T null Q H 476 476 missense 0.019 benign 0.2 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1185011871 11q13.4 11 75193575G> T null S I 478 478 missense 0.056 benign 0.1 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1185011871 11q13.4 11 75193575G> C null S T 478 478 missense 0.003 benign 0.27 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs940957018 11q13.4 11 75196516C> A null A D 479 479 missense 0.056 benign 0.3 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1591835814 11q13.4 11 75196519A> C null H P 480 480 missense 0.0 benign 0.28 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs772747925 11q13.4 11 75196525G> T null G V 482 482 missense 0.84 possibly damaging 0.11 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1475155458 11q13.4 11 75196528T> C null L P 483 483 missense 0.0 benign 0.23 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1475155458 11q13.4 11 75196528T> G null L R 483 483 missense 0.02 benign 0.36 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs760296169 11q13.4 11 75196533C> A null L M 485 485 missense 0.054 benign 0.22 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2306168 pubmed:14702039 11q13.4 11 75196537C> T null S F 486 486 0.1803 missense 0.001 benign 0.75 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs201163362 11q13.4 11 75196539C> T null P S 487 487 missense 0.121 benign 0.21 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1565549818 11q13.4 11 75196546G> T null C F 489 489 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114413167 11q13.4 11 75196548A> G null M V 490 490 0.000599 missense 0.023 benign 0.49 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs752102813 11q13.4 11 75196554G> C null A P 492 492 missense 0.0 benign 0.38 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs752102813 11q13.4 11 75196554G> T null A S 492 492 missense 0.003 benign 0.76 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs752102813 11q13.4 11 75196554G> A null A T 492 492 missense 0.062 benign 0.57 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1360987245 11q13.4 11 75196555C> T null A V 492 492 missense 0.005 benign 0.3 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs781393154 11q13.4 11 75196561C> T null S F 494 494 missense 0.162 benign 0.16 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs756358511 11q13.4 11 75196570T> C null L S 497 497 missense 0.0 benign 0.79 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs552133259 11q13.4 11 75196574C> A null D E 498 498 0.000399 missense 0.643 possibly damaging 0.46 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs868104786 11q13.4 11 75196573A> G null D G 498 498 missense 0.046 benign 0.17 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs780355944 11q13.4 11 75196572G> A null D N 498 498 missense 0.067 benign 0.21 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs768509882 11q13.4 11 75196575G> A null G S 499 499 missense 0.22 benign 0.39 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1483164746 11q13.4 11 75196583C> G null N K 501 501 missense 0.93 probably damaging 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs774081148 11q13.4 11 75196582A> G null N S 501 501 missense 0.889 possibly damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs59305495 11q13.4 11 75196592C> A null C * 504 504 0.000599 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1009964902 11q13.4 11 75196593G> A null D N 505 505 missense 0.168 benign 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1187595918 cosmic curated [Cosmic]: lung pubmed:22941188,pubmed:22941189,cosmic_study:423,cosmic_study:424 11q13.4 11 75196597C> T null P L 506 506 missense 0.007 benign 0.2 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1198823473 11q13.4 11 75196600G> A null S N 507 507 missense 0.02 benign 0.08 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1437414075 11q13.4 11 75196605C> T null R C 509 509 missense 0.761 possibly damaging 0.05 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140407559 11q13.4 11 75196606G> A null R H 509 509 0.0002 missense 0.001 benign 0.36 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs199904235 11q13.4 11 75196624C> A null P H 515 515 missense 0.979 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs776356585 11q13.4 11 75196623C> T null P S 515 515 missense 0.307 benign 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs776356585 11q13.4 11 75196623C> A null P T 515 515 missense 0.927 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1331031853 11q13.4 11 75196628C> A null C * 516 516 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1330735994 11q13.4 11 75196629C> T null H Y 517 517 missense 0.041 benign 0.15 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1009122956 11q13.4 11 75196639G> C null C S 520 520 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1041554804 11q13.4 11 75196644A> C null S R 522 522 missense 0.007 benign 0.22 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1008480131 11q13.4 11 75196661T> G null D E 527 527 missense 0.0 benign 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1356035281 11q13.4 11 75196669A> G null D G 530 530 missense 0.0 benign 0.37 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1346294353 11q13.4 11 75196675G> A null S N 532 532 missense 0.012 benign 0.26 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61555831 11q13.4 11 75196676C> A null S R 532 532 0.07268 missense 0.012 benign 0.28 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1237021929 11q13.4 11 75196677C> T null Q * 533 533 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1192680517 11q13.4 11 75200224G> T null V F 534 534 missense 0.94 probably damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1016197877 11q13.4 11 75200230T> C null Y H 536 536 missense 0.978 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs753914011 11q13.4 11 75200239T> G null C G 539 539 missense 0.984 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1450653283 11q13.4 11 75200243G> T null S I 540 540 missense 0.988 probably damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1357259611 11q13.4 11 75200245T> C null C R 541 541 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143480565 11q13.4 11 75200248G> A null V M 542 542 0.0002 missense 0.26 benign 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145875125 11q13.4 11 75200262C> A null N K 546 546 0.000399 missense 0.098 benign 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs138773402 11q13.4 11 75200264C> A null P H 547 547 missense 0.017 benign 0.53 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs138773402 11q13.4 11 75200264C> G null P R 547 547 missense 0.011 benign 0.31 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1436070836 11q13.4 11 75200267T> C null V A 548 548 missense 0.702 possibly damaging 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs149242910 cosmic curated [Cosmic]: urinary_tract cosmic_study:413 11q13.4 11 75200266G> A null V M 548 548 missense 0.493 possibly damaging 0.05 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs759037908 11q13.4 11 75200270T> C null L P 549 549 missense 0.003 benign 0.31 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs769449884 11q13.4 11 75200276G> T null G V 551 551 missense 0.976 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs865872713 11q13.4 11 75200279C> T null S F 552 552 missense 0.978 probably damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs775289054 cosmic curated [Cosmic]: ovary pubmed:21720365,cosmic_study:331 11q13.4 11 75200283C> A null C * 553 553 missense 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1320660565 11q13.4 11 75200284G> C null D H 554 554 missense 0.964 probably damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1320660565 11q13.4 11 75200284G> A null D N 554 554 missense 0.112 benign 0.29 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs772552828 11q13.4 11 75200291C> T null T M 556 556 missense 0.796 possibly damaging 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1490417189 11q13.4 11 75200302C> G null L V 560 560 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1397845107 11q13.4 11 75200305G> A null V M 561 561 missense 0.84 possibly damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1260809523 11q13.4 11 75200309T> C null V A 562 562 missense 0.086 benign 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs761222395 11q13.4 11 75200308G> A null V M 562 562 missense 0.187 benign 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1187099580 11q13.4 11 75200318T> G null L R 565 565 missense 0.642 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1023112273 11q13.4 11 75200326G> T null V F 568 568 missense 0.093 benign 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1023112273 11q13.4 11 75200326G> A null V I 568 568 missense 0.024 benign 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1430841453 11q13.4 11 75200329A> G null S G 569 569 missense 0.045 benign 0.33 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1366377227 11q13.4 11 75200330G> T null S I 569 569 missense 0.887 possibly damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs765383081 11q13.4 11 75200339C> T null S L 572 572 missense 0.022 benign 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs765383081 11q13.4 11 75200339C> G null S W 572 572 missense 0.85 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1184429179 11q13.4 11 75200356A> C null T P 578 578 missense 0.073 benign 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1226067491 11q13.4 11 75200360A> G null H R 579 579 missense 0.481 possibly damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1314283576 11q13.4 11 75200362A> G null T A 580 580 missense 0.779 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs781025711 11q13.4 11 75200369C> T null S F 582 582 missense 0.888 possibly damaging 0.1 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,TOPMed,gnomAD rs377570993 cosmic curated [Cosmic]: lung cosmic_study:417 11q13.4 11 75200376G> A null M I 584 584 missense 0.019 benign 0.02 deleterious 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs745319884 11q13.4 11 75200375T> G null M R 584 584 missense 0.782 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1489188463 11q13.4 11 75200374A> G null M V 584 584 missense 0.13 benign 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs956566591 11q13.4 11 75200381T> C null I T 586 586 missense 0.877 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1218664961 11q13.4 11 75200387G> A null R K 588 588 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs576675226 11q13.4 11 75202903G> C null G A 589 589 missense 0.971 probably damaging 0.94 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs981757637 11q13.4 11 75202915A> G null E G 593 593 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,gnomAD rs199755341 11q13.4 11 75202919C> A null D E 594 594 0.0002 missense 1.0 probably damaging 0.38 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs267603190 11q13.4 11 75202917G> A null D N 594 594 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs267603190 11q13.4 11 75202917G> T null D Y 594 594 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs779687972 11q13.4 11 75202920A> G null K E 595 595 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1423565942 11q13.4 11 75202932G> A null V M 599 599 missense 0.943 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs748829559 11q13.4 11 75202935G> A null G S 600 600 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs754635131 cosmic curated [Cosmic]: lung cosmic_study:417 11q13.4 11 75202949G> T null M I 604 604 missense 0.769 possibly damaging 0.01 deleterious 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1177876692 11q13.4 11 75202948T> G null M R 604 604 missense 0.94 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1177876692 11q13.4 11 75202948T> C null M T 604 604 missense 0.844 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs778432643 11q13.4 11 75202952C> A null F L 605 605 missense 0.0 benign 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1591840449 11q13.4 11 75202951T> C null F S 605 605 missense 0.033 benign 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs747338319 11q13.4 11 75202960T> G null I S 608 608 missense 0.521 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1398060789 11q13.4 11 75203312A> G null M V 612 612 missense 0.382 benign 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs759609798 11q13.4 11 75203315C> T null P S 613 613 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs764619160 11q13.4 11 75203320C> G null S R 614 614 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs752297803 11q13.4 11 75203322C> T null P L 615 615 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1282534010 11q13.4 11 75203324G> A null V M 616 616 missense 1.0 probably damaging 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs757942683 11q13.4 11 75203327A> T null I F 617 617 missense 0.786 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs777515970 11q13.4 11 75203328T> A null I N 617 617 missense 0.967 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1219263860 11q13.4 11 75203333G> A null G S 619 619 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs564567772 11q13.4 11 75203336A> G null S G 620 620 missense 0.836 possibly damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs753943330 11q13.4 11 75203339G> A null A T 621 621 missense 0.666 possibly damaging 0.31 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,gnomAD rs146349897 11q13.4 11 75203340C> T null A V 621 621 missense 0.953 probably damaging 0.26 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs755551258 11q13.4 11 75203344C> G null I M 622 622 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs200729218 11q13.4 11 75203345G> A null D N 623 623 0.0002 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs773581850 11q13.4 11 75203349C> A null T N 624 624 missense 1.0 probably damaging 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs770841522 11q13.4 11 75203355G> A null C Y 626 626 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1332248906 11q13.4 11 75203365G> A null W * 629 629 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1385158679 11q13.4 11 75203377T> G null C W 633 633 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs776603215 11q13.4 11 75203378G> A null G R 634 634 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1351808451 11q13.4 11 75203381C> T null R C 635 635 missense 0.814 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs199857166 11q13.4 11 75203382G> A null R H 635 635 0.0002 missense 0.012 benign 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs199857166 11q13.4 11 75203382G> T null R L 635 635 0.0002 missense 0.197 benign 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs199857166 11q13.4 11 75203382G> C null R P 635 635 0.0002 missense 0.794 possibly damaging 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs774826122 11q13.4 11 75203384C> G null R G 636 636 missense 0.073 benign 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1344892615 11q13.4 11 75203385G> A null R Q 636 636 missense 0.044 benign 0.27 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1240718536 11q13.4 11 75203387G> T null A S 637 637 missense 0.684 possibly damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs762532018 11q13.4 11 75203390G> A null V I 638 638 missense 0.814 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs762532018 11q13.4 11 75203390G> C null V L 638 638 missense 0.248 benign 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1458711343 11q13.4 11 75203393T> C null C R 639 639 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1458711343 11q13.4 11 75203393T> A null C S 639 639 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1183686096 11q13.4 11 75203396C> T null R C 640 640 missense 0.981 probably damaging 0.08 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs763682883 11q13.4 11 75203397G> A null R H 640 640 missense 0.169 benign 0.32 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1437473063 11q13.4 11 75203409A> G null N S 644 644 missense 0.199 benign 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs751203701 11q13.4 11 75203420C> T null R * 648 648 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs547836651 11q13.4 11 75203421G> A null R Q 648 648 0.000599 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs754251441 11q13.4 11 75203427G> A null R Q 650 650 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,gnomAD rs144448580 11q13.4 11 75203426C> T null R W 650 650 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs146573945 11q13.4 11 75204404A> G null I V 652 652 missense 0.024 benign 0.09 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs772535247 11q13.4 11 75204407G> A null G S 653 653 missense 0.987 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,gnomAD rs371344315 11q13.4 11 75204411T> C null L P 654 654 missense 0.978 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1285622490 11q13.4 11 75204414A> G null Q R 655 655 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs753242353 11q13.4 11 75204416T> C null F L 656 656 missense 0.012 benign 0.23 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1255862434 11q13.4 11 75204426A> T null K I 659 659 missense 0.935 probably damaging 0.1 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,TOPMed rs375220968 11q13.4 11 75204429C> T null T I 660 660 missense 0.007 benign 0.33 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,TOPMed rs375220968 11q13.4 11 75204429C> A null T K 660 660 missense 0.011 benign 0.13 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs777974470 11q13.4 11 75204428A> T null T S 660 660 missense 0.007 benign 0.29 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs199644096 11q13.4 11 75204432G> C null G A 661 661 missense 0.953 probably damaging 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs199644096 11q13.4 11 75204432G> A null G D 661 661 missense 0.981 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1206014679 11q13.4 11 75204431G> A null G S 661 661 missense 0.754 possibly damaging 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs199644096 11q13.4 11 75204432G> T null G V 661 661 missense 0.99 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1208262279 11q13.4 11 75204435C> A null S Y 662 662 missense 0.851 possibly damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1487971228 11q13.4 11 75204437G> A null V M 663 663 missense 0.009 benign 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1335525108 11q13.4 11 75204443T> C null C R 665 665 missense 0.972 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs192050675 11q13.4 11 75204448C> A null F L 666 666 0.0002 missense 0.149 benign 0.13 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1219935949 11q13.4 11 75204446T> C null F L 666 666 missense 0.149 benign 0.13 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs745594123 cosmic curated [Cosmic]: large_intestine pubmed:22810696,cosmic_study:376 11q13.4 11 75204449G> A null A T 667 667 missense 0.044 benign 0.19 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,TOPMed,gnomAD rs368871107 11q13.4 11 75204453T> C null L S 668 668 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs930782525 11q13.4 11 75204459T> C null L S 670 670 missense 0.791 possibly damaging 0.16 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1028526955 11q13.4 11 75204461G> A null A T 671 671 missense 0.052 benign 0.49 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed rs779783177 11q13.4 11 75204471G> A null R K 674 674 missense 0.873 possibly damaging 0.1 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs749219145 11q13.4 11 75204487G> C null E D 679 679 missense 0.946 probably damaging 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs773804224 11q13.4 11 75204488G> A null A T 680 680 missense 0.381 benign 0.52 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1399927760 11q13.4 11 75204491A> G null R G 681 681 missense 0.001 benign 0.6 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs746506913 11q13.4 11 75204502G> C null E D 684 684 missense 0.098 benign 0.38 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs780603514 11q13.4 11 75204500G> A null E K 684 684 missense 0.001 benign 0.58 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1215773529 11q13.4 11 75204501A> T null E V 684 684 missense 0.001 benign 0.26 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1456019163 11q13.4 11 75204507G> C null R T 686 686 missense 0.001 benign 0.59 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs771653294 11q13.4 11 75204513G> C null S T 688 688 missense 0.007 benign 0.22 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs760310031 11q13.4 11 75204516C> T null P L 689 689 missense 0.012 benign 0.23 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs772905542 11q13.4 11 75204515C> T null P S 689 689 missense 0.02 benign 0.17 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs765602544 11q13.4 11 75204519C> T null A V 690 690 missense 0.005 benign 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs149765874 11q13.4 11 75204521G> A null V I 691 691 missense 0.024 benign 0.45 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1255622960 cosmic curated [Cosmic]: central_nervous_system pubmed:23441165,cosmic_study:474 11q13.4 11 75204524G> C null E Q 692 692 missense 0.009 benign 0.83 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140987364 11q13.4 11 75204527C> G null Q E 693 693 0.000399 missense 0.024 benign 0.15 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140987364 11q13.4 11 75204527C> A null Q K 693 693 0.000399 missense 0.024 benign 0.58 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs781191690 11q13.4 11 75204537T> C null L P 696 696 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs144746239 cosmic curated [Cosmic]: large_intestine pubmed:22810696,cosmic_study:376 11q13.4 11 75204543C> T null S L 698 698 0.0002 missense 0.026 benign 0.06 tolerated - low confidence 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs749062012 11q13.4 11 75204551G> A null G R 701 701 missense 0.211 benign 0.34 tolerated - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,gnomAD rs202213657 11q13.4 11 75204560C> A null P T 704 704 0.0002 missense 0.007 benign 0.5 tolerated - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs142700667 11q13.4 11 75204572C> T null R * 708 708 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs535083589 11q13.4 11 75204573G> A null R Q 708 708 0.0002 missense 0.375 benign 0.04 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1591842075 11q13.4 11 75204576T> G null V G 709 709 missense 0.972 probably damaging 0.0 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase gnomAD rs1158536632 14q31.1 14 80211468C> T null G D 2 2 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase Ensembl rs1594877995 14q31.1 14 80211463G> A null L F 4 4 missense 0.919 probably damaging 0.07 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ESP,ExAC,TOPMed,gnomAD rs200390046 14q31.1 14 80211462A> T null L H 4 4 missense 0.939 probably damaging 0.01 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase gnomAD rs1181966409 14q31.1 14 80211458G> T null S R 5 5 missense 0.864 possibly damaging 0.0 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs756525368 14q31.1 14 80211457C> T null V I 6 6 missense 0.003 benign 0.5 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs894457956 14q31.1 14 80211453T> G null D A 7 7 missense 0.079 benign 0.01 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs1255140404 14q31.1 14 80211441G> C null T R 11 11 missense 0.984 probably damaging 0.01 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs767741367 14q31.1 14 80211424C> T null V I 17 17 missense 0.006 benign 1.0 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs767741367 14q31.1 14 80211424C> G null V L 17 17 missense 0.077 benign 0.52 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,TOPMed,gnomAD rs78670124 14q31.1 14 80211411T> A null N I 21 21 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,TOPMed,gnomAD rs78670124 14q31.1 14 80211411T> C null N S 21 21 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,TOPMed,gnomAD rs78670124 14q31.1 14 80211411T> G null N T 21 21 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs774131479 14q31.1 14 80211408C> A null C F 22 22 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase gnomAD rs1359514767 14q31.1 14 80211403A> T null F I 24 24 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed rs1379519737 14q31.1 14 80211400G> T null L M 25 25 missense 0.243 benign 0.03 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed rs1379519737 14q31.1 14 80211400G> C null L V 25 25 missense 0.453 possibly damaging 0.09 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase 1000Genomes,ExAC,gnomAD rs560635197 14q31.1 14 80211397C> A null A S 26 26 0.0002 missense 0.689 possibly damaging 0.02 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed rs1437556021 14q31.1 14 80211394G> C null L V 27 27 missense 0.996 probably damaging 0.01 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs775092695 14q31.1 14 80211391A> G null Y H 28 28 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs1296675037 14q31.1 14 80211387T> C null D G 29 29 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ESP,ExAC,gnomAD rs376291377 14q31.1 14 80211384G> A null S L 30 30 missense 0.742 possibly damaging 0.09 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,TOPMed,gnomAD rs770622026 14q31.1 14 80211361C> A null V L 38 38 missense 0.005 benign 0.06 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,TOPMed,gnomAD rs770622026 14q31.1 14 80211361C> T null V M 38 38 missense 0.066 benign 0.01 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,TOPMed,gnomAD rs748438251 14q31.1 14 80211346G> A null R C 43 43 missense 0.006 benign 0.08 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs1367705359 14q31.1 14 80211345C> T null R H 43 43 missense 0.781 possibly damaging 0.14 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs1367705359 14q31.1 14 80211345C> A null R L 43 43 missense 0.253 benign 1.0 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase gnomAD rs1170949895 14q31.1 14 80211339T> A null K M 45 45 missense 0.891 possibly damaging 0.04 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,TOPMed,gnomAD rs779114709 14q31.1 14 80211334T> G null T P 47 47 missense 0.277 benign 0.18 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase gnomAD rs1259641253 14q31.1 14 80211330C> T null R H 48 48 missense 0.36 benign 0.6 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,TOPMed,gnomAD rs749389382 14q31.1 14 80211328C> G null G R 49 49 missense 0.018 benign 0.11 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs779952827 14q31.1 14 80211323C> G null E D 50 50 missense 0.169 benign 0.24 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs756684593 14q31.1 14 80211322A> T null W R 51 51 missense 0.006 benign 0.06 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs1355265132 14q31.1 14 80211319G> C null R G 52 52 missense 0.614 possibly damaging 0.03 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase Ensembl rs941410719 14q31.1 14 80211318C> T null R Q 52 52 missense 0.07 benign 0.23 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs1355265132 14q31.1 14 80211319G> A null R W 52 52 missense 0.897 possibly damaging 0.0 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs1265533572 14q31.1 14 80211316G> C null R G 53 53 missense 0.806 possibly damaging 0.03 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase gnomAD rs1306113696 cosmic curated [Cosmic]: endometrium cosmic_study:419 14q31.1 14 80211315C> T null R H 53 53 missense 0.942 probably damaging 0.05 deleterious - low confidence 1 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs1265533572 14q31.1 14 80211316G> T null R S 53 53 missense 0.806 possibly damaging 0.01 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs750873030 14q31.1 14 80211313T> C null M V 54 54 missense 0.079 benign 0.01 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase 1000Genomes,ExAC,gnomAD rs540962070 cosmic curated [Cosmic]: large_intestine cosmic_study:375 14q31.1 14 80211292G> A null R C 61 61 0.0002 missense 0.982 probably damaging 0.0 deleterious - low confidence 1 A0A024R6J8 DIO2 Iodothyronine deiodinase 1000Genomes,ExAC,TOPMed,gnomAD rs571944276 14q31.1 14 80211291C> T null R H 61 61 0.0002 missense 0.992 probably damaging 0.01 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs1041490356 14q31.1 14 80211287G> C null C W 62 62 missense 0.94 probably damaging 0.01 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase gnomAD rs1237290682 14q31.1 14 80211279T> C null K R 65 65 missense 0.0 benign 0.54 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs944548096 14q31.1 14 80211265C> T null D N 70 70 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs751916610 cosmic curated [Cosmic]: lung pubmed:22941189,cosmic_study:424 14q31.1 14 80211258T> C null Y C 72 72 missense 0.991 probably damaging 0.0 deleterious - low confidence 1 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs762655591 14q31.1 14 80211252T> A null Q L 74 74 missense 0.871 possibly damaging 0.0 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs762655591 14q31.1 14 80211252T> C null Q R 74 74 missense 0.644 possibly damaging 0.01 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs778251642 14q31.1 14 80206334T> G null N T 76 76 missense 0.0 benign 0.29 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs1416892699 14q31.1 14 80206331C> A null C F 77 77 missense 0.0 benign 0.05 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs1416892699 14q31.1 14 80206331C> T null C Y 77 77 missense 0.0 benign 0.05 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase 1000Genomes,ExAC,TOPMed,gnomAD rs181652125 14q31.1 14 80206326G> A null P S 79 79 0.000799 missense 0.001 benign 0.65 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase 1000Genomes,ExAC,TOPMed,gnomAD rs181652125 14q31.1 14 80206326G> T null P T 79 79 0.000799 missense 0.017 benign 0.34 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs752282810 14q31.1 14 80206323A> G null S P 80 80 missense 0.0 benign 0.26 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs764872574 14q31.1 14 80206315A> T null F L 82 82 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC rs758976363 14q31.1 14 80206314T> C null S G 83 83 missense 0.037 benign 0.27 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,TOPMed,gnomAD rs376459152 14q31.1 14 80206313C> T null S N 83 83 missense 0.001 benign 0.13 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ESP,ExAC,TOPMed,gnomAD rs377114990 14q31.1 14 80206307T> C null D G 85 85 missense 0.0 benign 0.22 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs760563686 14q31.1 14 80206308C> T null D N 85 85 missense 0.001 benign 0.29 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs760563686 14q31.1 14 80206308C> A null D Y 85 85 missense 0.001 benign 0.05 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs763218486 14q31.1 14 80206304C> T null G E 86 86 missense 0.001 benign 0.06 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase gnomAD rs1384652173 14q31.1 14 80206301T> A null H L 87 87 missense 0.003 benign 0.15 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs769990672 14q31.1 14 80206302G> A null H Y 87 87 missense 0.006 benign 0.1 tolerated - low confidence 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ExAC rs758818904 7q31.32 7 123550478C> G null V L 2 2 missense 0.198 benign 0.07 tolerated 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ExAC,gnomAD rs753157331 7q31.32 7 123550471G> A null A V 4 4 missense 0.001 benign 0.33 tolerated 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 TOPMed rs1358750397 7q31.32 7 123545674T> A null E D 5 5 missense 0.959 probably damaging 0.03 deleterious 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ExAC,gnomAD rs762872113 7q31.32 7 123545672G> A null P L 6 6 missense 0.211 benign 0.01 deleterious 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ExAC,TOPMed,gnomAD rs764985598 7q31.32 7 123545667C> T null V I 8 8 missense 0.052 benign 0.21 tolerated 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ExAC,gnomAD rs758933701 7q31.32 7 123545648T> A null Q L 14 14 missense 0.006 benign 0.06 tolerated 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ExAC,TOPMed,gnomAD rs772655019 7q31.32 7 123545642T> G null Q P 16 16 missense 0.828 possibly damaging 0.2 tolerated 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 gnomAD rs1213890240 7q31.32 7 123545639C> T null G D 17 17 missense 0.056 benign 0.38 tolerated 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ESP,ExAC,gnomAD rs377374672 7q31.32 7 123545640C> G null G R 17 17 missense 0.844 possibly damaging 0.41 tolerated 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 TOPMed rs1186242982 7q31.32 7 123545636C> G null G A 18 18 missense 0.942 probably damaging 0.01 deleterious 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ExAC,TOPMed,gnomAD rs548942692 7q31.32 7 123545637C> A null G C 18 18 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 TOPMed rs1186242982 7q31.32 7 123545636C> T null G D 18 18 missense 0.992 probably damaging 0.02 deleterious 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ExAC,TOPMed,gnomAD rs548942692 7q31.32 7 123545637C> T null G S 18 18 missense 0.981 probably damaging 0.03 deleterious 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 gnomAD rs766524825 7q31.32 7 123545634G> A null Q * 19 19 stop gained 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ExAC,gnomAD rs780117293 7q31.32 7 123545628C> T null E K 21 21 missense 0.079 benign 0.05 tolerated 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 gnomAD rs1370286635 7q31.32 7 123545622C> T null V M 23 23 missense 0.939 probably damaging 0.01 deleterious 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ExAC,gnomAD rs756399898 7q31.32 7 123545611C> G null Q H 26 26 missense 0.94 probably damaging 0.03 deleterious 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 Ensembl rs3180371 7q31.32 7 123542216T> C null E G 28 28 missense 0.037 benign 0.03 deleterious 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 gnomAD rs1173678892 7q31.32 7 123542214G> C null H D 29 29 missense 0.005 benign 0.01 deleterious 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ESP,ExAC,TOPMed,gnomAD rs149177143 7q31.32 7 123542213T> C null H R 29 29 missense 0.007 benign 0.13 tolerated 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 TOPMed,gnomAD rs1166917305 7q31.32 7 123542211C> T null E K 30 30 missense 0.958 probably damaging 0.04 deleterious 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ExAC,gnomAD rs763197896 7q31.32 7 123542205T> G null N H 32 32 missense 0.0 benign 0.19 tolerated 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 TOPMed rs1402137230 7q31.32 7 123542196T> C null R G 35 35 missense 0.263 benign 0.04 deleterious 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ExAC,gnomAD rs769860570 7q31.32 7 123542186C> G null R T 38 38 missense 0.0 benign 0.08 tolerated 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 TOPMed rs890933718 7q31.32 7 123542183T> C null E G 39 39 missense 0.007 benign 0.29 tolerated 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 TOPMed rs1333351647 7q31.32 7 123542184C> G null E Q 39 39 missense 0.0 benign 1.0 tolerated 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 gnomAD rs1213084596 7q31.32 7 123542180C> T null W * 40 40 stop gained 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 gnomAD rs1305792296 7q31.32 7 123542179C> T null W * 40 40 stop gained 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ExAC rs781457634 7q31.32 7 123542181A> C null W G 40 40 missense 0.965 probably damaging 0.0 deleterious 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 TOPMed rs1449566812 7q31.32 7 123542178T> C null K E 41 41 missense 0.085 benign 0.04 deleterious 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 1000Genomes rs201881407 7q31.32 7 123542177T> C null K R 41 41 missense 0.132 benign 0.13 tolerated 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ExAC,gnomAD rs770984972 7q31.32 7 123542174A> G null L P 42 42 missense 0.0 benign 1.0 tolerated 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ExAC,gnomAD rs79613983 7q31.32 7 123542172A> C null W G 43 43 missense 0.538 possibly damaging 0.03 deleterious 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ExAC,gnomAD rs777652297 7q31.32 7 123542166G> A null P S 45 45 missense 0.367 benign 0.16 tolerated 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 TOPMed rs1338217334 7q31.32 7 123542159A> G null V A 47 47 missense 0.015 benign 0.06 tolerated 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 gnomAD rs1279848590 7q31.32 7 123542152C> G null E D 49 49 missense 0.005 benign 0.12 tolerated 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 gnomAD rs1354714026 7q31.32 7 123542147G> A null P L 51 51 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ExAC,gnomAD rs754524046 7q31.32 7 123542141T> C null D G 53 53 missense 0.0 benign 0.18 tolerated 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ExAC,TOPMed,gnomAD rs778778581 7q31.32 7 123542142C> T null D N 53 53 missense 0.0 benign 1.0 tolerated 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ExAC,TOPMed,gnomAD rs778778581 7q31.32 7 123542142C> A null D Y 53 53 missense 0.12 benign 0.0 deleterious 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ExAC,TOPMed,gnomAD rs753539036 7q31.32 7 123542137C> A null Q H 54 54 missense 0.987 probably damaging 0.02 deleterious 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ExAC,TOPMed,gnomAD rs753539036 7q31.32 7 123542137C> G null Q H 54 54 missense 0.987 probably damaging 0.02 deleterious 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ExAC,TOPMed,gnomAD rs766196942 7q31.32 7 123542126G> A null P L 58 58 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 gnomAD rs1422178337 7q31.32 7 123542127G> A null P S 58 58 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R772 NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 ESP,ExAC,TOPMed,gnomAD rs145241758 7q31.32 7 123542124T> A null I L 59 59 missense 0.006 benign 0.12 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,gnomAD rs755727195 19p13.2 19 11554341G> A null R C 3 3 missense 0.894 possibly damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,gnomAD rs775976345 cosmic curated [Cosmic]: large_intestine cosmic_study:375 19p13.2 19 11554340C> T null R H 3 3 missense 0.894 possibly damaging 0.0 deleterious 1 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,gnomAD rs770472199 19p13.2 19 11554325C> T null R Q 8 8 missense 0.363 benign 0.07 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed rs943633264 19p13.2 19 11554319G> A null P L 10 10 missense 0.516 possibly damaging 0.02 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,gnomAD rs747766890 19p13.2 19 11554317G> A null P S 11 11 missense 0.591 possibly damaging 0.09 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog Ensembl rs1599618859 19p13.2 19 11554313G> A null P L 12 12 missense 0.245 benign 0.01 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ESP,ExAC,gnomAD rs140836187 19p13.2 19 11554311T> G null K Q 13 13 missense 0.677 possibly damaging 0.14 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,gnomAD rs780117768 19p13.2 19 11554305T> C null K E 15 15 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog gnomAD rs1258498950 19p13.2 19 11554304T> A null K M 15 15 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog gnomAD rs1201158191 19p13.2 19 11554300C> T null M I 16 16 missense 0.001 benign 0.34 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,gnomAD rs758363350 19p13.2 19 11554293T> C null T A 19 19 missense 0.001 benign 0.08 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog gnomAD rs1226429862 19p13.2 19 11554292G> A null T I 19 19 missense 0.003 benign 0.05 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,gnomAD rs758363350 19p13.2 19 11554293T> G null T P 19 19 missense 0.0 benign 1.0 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,gnomAD rs757437211 19p13.2 19 11554287C> T null E K 21 21 missense 0.54 possibly damaging 0.02 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog Ensembl rs1568421265 19p13.2 19 11554278A> G null F L 24 24 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed rs1268055126 19p13.2 19 11554275T> C null T A 25 25 missense 0.031 benign 0.15 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed rs1268055126 19p13.2 19 11554275T> G null T P 25 25 missense 0.01 benign 0.06 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed,gnomAD rs1314367685 19p13.2 19 11554254C> T null E K 32 32 missense 0.221 benign 0.04 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,gnomAD rs776021530 19p13.2 19 11554247G> A null S F 34 34 missense 0.965 probably damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,gnomAD rs768030543 19p13.2 19 11554245A> T null C S 35 35 missense 0.993 probably damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog Ensembl rs750085439 19p13.2 19 11554233T> C null M V 39 39 missense 0.438 benign 0.04 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,gnomAD rs11539252 19p13.2 19 11554077G> A null R C 41 41 missense 0.97 probably damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,gnomAD rs11539252 19p13.2 19 11554077G> C null R G 41 41 missense 0.858 possibly damaging 0.01 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog gnomAD rs1230010558 19p13.2 19 11554074C> T null A T 42 42 missense 0.006 benign 0.08 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,gnomAD rs768454338 19p13.2 19 11554071G> A null R C 43 43 missense 0.959 probably damaging 0.04 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ESP,ExAC,TOPMed,gnomAD rs375925429 19p13.2 19 11554070C> T null R H 43 43 missense 0.94 probably damaging 0.13 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,gnomAD rs745870835 19p13.2 19 11554062C> T null G R 46 46 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,gnomAD rs745870835 19p13.2 19 11554062C> G null G R 46 46 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog 1000Genomes,ExAC,gnomAD rs548002884 19p13.2 19 11554047T> C null T A 51 51 0.0002 missense 0.08 benign 0.06 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,gnomAD rs756331430 19p13.2 19 11554040C> A null C F 53 53 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,gnomAD rs752856314 19p13.2 19 11554032C> T null E K 56 56 missense 0.124 benign 0.65 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,gnomAD rs781592525 19p13.2 19 11554022G> A null T M 59 59 missense 0.984 probably damaging 0.03 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed,gnomAD rs1482580180 19p13.2 19 11554019G> A null P L 60 60 missense 0.006 benign 0.3 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed,gnomAD rs1482580180 19p13.2 19 11554019G> C null P R 60 60 missense 0.124 benign 0.6 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,gnomAD rs752045865 19p13.2 19 11554017T> C null I V 61 61 missense 0.136 benign 0.26 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed rs951197696 19p13.2 19 11553798G> A null P L 67 67 missense 0.876 possibly damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog 1000Genomes,ExAC rs201351097 19p13.2 19 11553792T> C null D G 69 69 0.0002 missense 1.0 probably damaging 0.05 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed rs1301005856 19p13.2 19 11553785_11553786de l null Y * 71 71 stop gained 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,gnomAD rs779536402 19p13.2 19 11553784T> C null S G 72 72 missense 0.022 benign 0.11 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,gnomAD rs757786782 19p13.2 19 11553778A> T null W R 74 74 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog gnomAD rs1187443726 19p13.2 19 11553774A> G null I T 75 75 missense 0.942 probably damaging 0.03 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed rs1295156015 19p13.2 19 11553763C> T null E K 79 79 missense 0.959 probably damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ESP,ExAC,TOPMed,gnomAD rs372431965 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 19p13.2 19 11553759G> A null A V 80 80 missense 0.196 benign 0.11 tolerated 1 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1237895296 19p13.11 19 19193952G> T null E D 2 2 missense 0.979 probably damaging 0.06 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1019901096 19p13.11 19 19193951A> G null E G 2 2 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1488966736 19p13.11 19 19193957C> T null T I 4 4 missense 0.994 probably damaging 0.08 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs772043527 19p13.11 19 19193956A> C null T P 4 4 missense 0.994 probably damaging 0.01 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs746728542 19p13.11 19 19193962C> G null P A 6 6 missense 0.079 benign 0.35 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1326107852 19p13.11 19 19193963C> T null P L 6 6 missense 0.003 benign 0.33 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs746728542 19p13.11 19 19193962C> A null P T 6 6 missense 0.116 benign 0.78 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs776148883 19p13.11 19 19193965G> A null A T 7 7 missense 0.107 benign 0.14 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1183893593 19p13.11 19 19193966C> T null A V 7 7 missense 0.107 benign 0.22 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs770297156 19p13.11 19 19193968G> A null E K 8 8 missense 0.107 benign 0.08 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK Ensembl rs1009789125 19p13.11 19 19193977A> T null I F 11 11 missense 0.014 benign 0.12 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1157183741 19p13.11 19 19193982G> C null Q H 12 12 missense 0.115 benign 0.12 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,gnomAD rs373342097 19p13.11 19 19193983A> T null T S 13 13 missense 0.003 benign 0.31 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1312378543 19p13.11 19 19193992A> G null T A 16 16 missense 0.0 benign 0.31 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs764499202 19p13.11 19 19193993C> T null T I 16 16 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs764499202 19p13.11 19 19193993C> G null T S 16 16 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1312378543 19p13.11 19 19193992A> T null T S 16 16 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1156936548 19p13.11 19 19193995C> G null P A 17 17 missense 0.012 benign 0.31 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1425835390 19p13.11 19 19194001T> G null S A 19 19 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs761951873 19p13.11 19 19194008T> C null L P 21 21 missense 0.001 benign 0.12 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1379607348 19p13.11 19 19194007C> G null L V 21 21 missense 0.049 benign 0.09 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs1355433000 19p13.11 19 19194011G> A null G E 22 22 missense 0.003 benign 0.46 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs968833538 19p13.11 19 19194010G> A null G R 22 22 missense 0.003 benign 0.55 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs968833538 19p13.11 19 19194010G> C null G R 22 22 missense 0.003 benign 0.55 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs756191972 19p13.11 19 19194029G> A null G E 28 28 missense 0.049 benign 0.22 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ExAC,TOPMed,gnomAD rs559367724 19p13.11 19 19194028G> A null G R 28 28 0.0002 missense 0.001 benign 0.89 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs778890706 19p13.11 19 19194035A> G null E G 30 30 missense 0.621 possibly damaging 0.08 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs924654241 19p13.11 19 19194034G> C null E Q 30 30 missense 0.691 possibly damaging 0.1 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1212837083 19p13.11 19 19194037G> A null A T 31 31 missense 0.003 benign 0.29 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,gnomAD rs376225883 19p13.11 19 19194038C> T null A V 31 31 missense 0.079 benign 0.2 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs114064359 [ClinVar]: MHC class II deficiency 19p13.11 19 19194041C> T null A V 32 32 0.001597 missense 0.003 benign 0.5 tolerated - low confidence 0 MHC class II deficiency MIM:209920 ClinVar:RCV000647950 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1177218011 19p13.11 19 19194043G> T null D Y 33 33 missense 0.944 probably damaging 0.0 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs1240212432 19p13.11 19 19194047G> A null G D 34 34 missense 0.003 benign 0.14 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs1240212432 19p13.11 19 19194047G> T null G V 34 34 missense 0.3 benign 0.0 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK Ensembl rs751129186 19p13.11 19 19194050C> G null S * 35 35 stop gained 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1290480803 19p13.11 19 19194058G> A null V M 38 38 missense 0.931 probably damaging 0.0 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs746814298 19p13.11 19 19194061G> A null V I 39 39 missense 0.011 benign 0.17 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs770661421 19p13.11 19 19194075T> A null F L 43 43 missense 0.003 benign 0.15 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1340297024 19p13.11 19 19194074T> C null F S 43 43 missense 0.143 benign 0.04 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1359837593 19p13.11 19 19194077C> T null P L 44 44 missense 0.559 possibly damaging 0.03 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs780741433 19p13.11 19 19194076C> T null P S 44 44 missense 0.434 benign 0.01 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs769234114 19p13.11 19 19194079T> C null C R 45 45 missense 0.458 possibly damaging 0.03 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs34282046 [ClinVar]: MHC class II deficiency 19p13.11 19 19194090G> C null E D 48 48 0.04393 missense 0 MHC class II deficiency MIM:209920 ClinVar:RCV000296111 A0A024R7P0 RFXANK DNA-binding protein RFXANK Ensembl rs953884677 19p13.11 19 19194089A> G null E G 48 48 missense 0.049 benign 0.04 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,gnomAD rs369403645 19p13.11 19 19194094G> A null V M 50 50 missense 0.003 benign 0.2 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1364864540 19p13.11 19 19194101C> T null P L 52 52 missense 0.018 benign 0.07 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK Ensembl rs912409307 19p13.11 19 19194107C> T null P L 54 54 missense 0.0 benign 0.66 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1307452669 19p13.11 19 19194115A> G null S G 57 57 missense 0.0 benign 0.57 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1431730261 19p13.11 19 19194119T> C null V A 58 58 missense 0.0 benign 1.0 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,TOPMed rs373095352 19p13.11 19 19194118G> A null V I 58 58 missense 0.007 benign 0.43 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1197099934 19p13.11 19 19194121T> G null S A 59 59 missense 0.003 benign 0.29 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,gnomAD rs142461365 19p13.11 19 19194125C> T null S F 60 60 missense 0.568 possibly damaging 0.05 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,dbSNP,gnomAD rs150525759 [ClinVar]: MHC class II deficiency 19p13.11 19 19194133G> A null G S 63 63 missense 0.758 possibly damaging 0.22 tolerated 0 MHC class II deficiency MIM:209920 ClinVar:RCV000687490 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1300551779 19p13.11 19 19196971T> C null S P 65 65 missense 0.001 benign 0.46 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1300551779 19p13.11 19 19196971T> A null S T 65 65 missense 0.171 benign 0.74 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK Ensembl rs1568578546 19p13.11 19 19196972C> A null S Y 65 65 missense 0.139 benign 0.34 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1233012700 19p13.11 19 19196979G> T null K N 67 67 missense 0.396 benign 0.03 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs764092902 19p13.11 19 19196978A> G null K R 67 67 missense 0.396 benign 0.07 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1300437440 19p13.11 19 19196981A> G null H R 68 68 missense 0.596 possibly damaging 0.18 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs757059776 19p13.11 19 19196990C> T null T I 71 71 missense 0.997 probably damaging 0.15 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs767281603 19p13.11 19 19196993T> G null L R 72 72 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1231256421 19p13.11 19 19196999A> G null N S 74 74 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs755661612 19p13.11 19 19197002G> A null R Q 75 75 missense 0.895 possibly damaging 0.21 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,gnomAD rs368808881 19p13.11 19 19197001C> T null R W 75 75 missense 0.992 probably damaging 0.01 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,dbSNP,gnomAD rs779699696 [ClinVar]: MHC class II deficiency 19p13.11 19 19197007C> T null R * 77 77 stop gained 0 MHC class II deficiency MIM:209920 ClinVar:RCV001051631 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,gnomAD rs375541634 19p13.11 19 19197008G> T null R L 77 77 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,gnomAD rs375541634 19p13.11 19 19197008G> A null R Q 77 77 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1473689675 19p13.11 19 19197018G> T null E D 80 80 missense 0.942 probably damaging 0.02 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs779382779 cosmic curated [Cosmic]: lung pubmed:22941188,cosmic_study:423 19p13.11 19 19197016G> A null E K 80 80 missense 0.943 probably damaging 0.06 tolerated 1 A0A024R7P0 RFXANK DNA-binding protein RFXANK Ensembl rs1599780837 19p13.11 19 19197020T> G null V G 81 81 missense 0.92 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK Ensembl rs866391864 19p13.11 19 19197025G> A null A T 83 83 missense 0.131 benign 0.31 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs748724203 19p13.11 19 19197031C> G null P A 85 85 missense 1.0 probably damaging 0.03 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ExAC,TOPMed,gnomAD rs545211228 19p13.11 19 19197032C> T null P L 85 85 0.0002 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ExAC,TOPMed,gnomAD rs545211228 19p13.11 19 19197032C> A null P Q 85 85 0.0002 missense 1.0 probably damaging 0.04 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1361658343 19p13.11 19 19197034G> A null A T 86 86 missense 0.756 possibly damaging 0.11 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK dbSNP rs1568578747 [ClinVar]: MHC class II deficiency 19p13.11 19 19197041_19197043de l null LD H 88 89 - 0 MHC class II deficiency MIM:209920 ClinVar:RCV000692999 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,gnomAD rs374843362 19p13.11 19 19197522T> G null C W 90 90 missense 0.451 possibly damaging 0.13 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK Ensembl rs1599782188 19p13.11 19 19197527A> C null N T 92 92 missense 0.021 benign 0.03 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145448880 19p13.11 19 19197532G> A null V I 94 94 0.000399 missense 0.003 benign 1.0 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK Ensembl,dbSNP rs104894709 [ClinVar]: Bare lymphocyte syndrome, type II, complementation group B, [ClinVar]: MHC class II deficiency pubmed:12618906 19p13.11 19 19197545A> T null D V 98 98 missense 1.0 probably damaging 0.0 deleterious 0 Bare lymphocyte syndrome, type II, complementation group B ClinVar:RCV000006979 A0A024R7P0 RFXANK DNA-binding protein RFXANK Ensembl,dbSNP rs104894709 [ClinVar]: Bare lymphocyte syndrome, type II, complementation group B, [ClinVar]: MHC class II deficiency pubmed:12618906 19p13.11 19 19197545A> T null D V 98 98 missense 1.0 probably damaging 0.0 deleterious 0 MHC class II deficiency MIM:209920 ClinVar:RCV000985115 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs769689430 19p13.11 19 19197547G> A null E K 99 99 missense 0.473 possibly damaging 0.06 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs775003911 19p13.11 19 19197550C> T null R C 100 100 missense 0.858 possibly damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs762597760 19p13.11 19 19197551G> A null R H 100 100 missense 0.038 benign 0.09 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,gnomAD rs377750233 19p13.11 19 19197553G> A null G S 101 101 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK Ensembl rs1599782292 19p13.11 19 19197559A> C null T P 103 103 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1439415098 19p13.11 19 19197562C> A null P T 104 104 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC rs756530632 19p13.11 19 19197580G> A null A T 110 110 missense 0.987 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1021022752 19p13.11 19 19197587G> A null G E 112 112 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1481704512 19p13.11 19 19197589G> A null E K 113 113 missense 0.925 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK dbSNP rs2060623718 [ClinVar]: MHC class II deficiency 19p13.11 19 19197592A> T null I F 114 114 missense 0 MHC class II deficiency MIM:209920 ClinVar:RCV001122154 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs754170563 19p13.11 19 19197597G> C null E D 115 115 missense 0.023 benign 0.32 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs906618330 19p13.11 19 19197599C> T null T I 116 116 missense 0.661 possibly damaging 0.05 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs1382983710 19p13.11 19 19197601G> A null V I 117 117 missense 0.766 possibly damaging 0.02 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,dbSNP,gnomAD rs779039407 [ClinVar]: MHC class II deficiency 19p13.11 19 19197604C> T null R C 118 118 missense 0.17 benign 0.0 deleterious 0 MHC class II deficiency MIM:209920 ClinVar:RCV000347711 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs779039407 19p13.11 19 19197604C> G null R G 118 118 missense 0.851 possibly damaging 0.01 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs758522910 19p13.11 19 19197605G> A null R H 118 118 missense 0.969 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1206746915 19p13.11 19 19197609C> A null F L 119 119 missense 0.583 possibly damaging 0.44 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs775296271 19p13.11 19 19197621G> A null W * 123 123 stop gained 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,dbSNP,gnomAD rs778357787 [ClinVar]: MHC class II deficiency 19p13.11 19 19197620G> A null W * 123 123 stop gained 0 MHC class II deficiency MIM:209920 ClinVar:RCV000779255 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1301129319 19p13.11 19 19197619T> C null W R 123 123 missense 0.007 benign 0.7 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs771867382 19p13.11 19 19198108G> A null G D 124 124 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1483730599 19p13.11 19 19198115C> A null D E 126 126 missense 0.313 benign 0.01 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs115220304 [ClinVar]: MHC class II deficiency 19p13.11 19 19198113G> A null D N 126 126 0.002196 missense 0.07 benign 0.15 tolerated 0 MHC class II deficiency MIM:209920 ClinVar:RCV000647953 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs771437963 19p13.11 19 19198119C> T null H Y 128 128 missense 0.915 probably damaging 0.02 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK dbSNP rs753338285 [ClinVar]: MHC class II deficiency 19p13.11 19 19198122_19198123de l null I null 129 129 frameshift 0 MHC class II deficiency MIM:209920 ClinVar:RCV000850361 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs777058246 19p13.11 19 19198122A> G null I V 129 129 missense 0.001 benign 0.58 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK dbSNP rs2060634316 [ClinVar]: MHC class II deficiency 19p13.11 19 19198128de l null A null 131 131 frameshift 0 MHC class II deficiency MIM:209920 ClinVar:RCV001253463 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs765659642 19p13.11 19 19198131A> C null K Q 132 132 missense 0.66 possibly damaging 0.1 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs1475656044 19p13.11 19 19198137C> T null R * 134 134 stop gained 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed rs763100974 19p13.11 19 19198138G> T null R L 134 134 missense 0.38 benign 0.1 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed rs763100974 19p13.11 19 19198138G> A null R Q 134 134 missense 0.955 probably damaging 0.17 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC rs764319239 19p13.11 19 19198141A> C null E A 135 135 missense 0.961 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC rs751594870 19p13.11 19 19198143A> C null S R 136 136 missense 1.0 probably damaging 0.04 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,dbSNP,gnomAD rs368281475 [ClinVar]: MHC class II deficiency 19p13.11 19 19198145C> A null S R 136 136 missense 1.0 probably damaging 0.04 deleterious 0 MHC class II deficiency MIM:209920 ClinVar:RCV000985219 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs780019385 19p13.11 19 19198146G> A null A T 137 137 missense 0.977 probably damaging 0.02 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs753776724 19p13.11 19 19198153C> T null S L 139 139 missense 0.792 possibly damaging 0.18 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs778781120 19p13.11 19 19198159C> T null A V 141 141 missense 0.982 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs989833829 19p13.11 19 19198161A> G null S G 142 142 missense 0.132 benign 0.08 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs1398711276 19p13.11 19 19198162G> C null S T 142 142 missense 0.888 possibly damaging 0.03 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1327386243 19p13.11 19 19198167G> T null G C 144 144 missense 0.993 probably damaging 0.06 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1424876858 19p13.11 19 19198173T> C null Y H 146 146 missense 0.985 probably damaging 0.48 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs746506139 19p13.11 19 19198180A> G null D G 148 148 missense 0.968 probably damaging 0.01 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs886054309 19p13.11 19 19198182A> C null I L 149 149 missense 0.999 probably damaging 0.11 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1428063418 19p13.11 19 19198184T> G null I M 149 149 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK dbSNP,gnomAD rs886054309 [ClinVar]: MHC class II deficiency 19p13.11 19 19198182A> G null I V 149 149 missense 0.996 probably damaging 0.2 tolerated 0 MHC class II deficiency MIM:209920 ClinVar:RCV000402039 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs777194266 19p13.11 19 19198189G> T null G V 151 151 missense 0.0 benign 0.29 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs151053440 19p13.11 19 19198197C> G null L V 154 154 0.0002 missense 0.566 possibly damaging 0.01 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs372111384 [ClinVar]: MHC class II deficiency 19p13.11 19 19198201A> C null E A 155 155 0.0002 missense 0.138 benign 0.15 tolerated 0 MHC class II deficiency MIM:209920 ClinVar:RCV000799276 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372111384 19p13.11 19 19198201A> T null E V 155 155 0.0002 missense 0.398 benign 0.03 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ExAC,TOPMed,gnomAD rs115964828 19p13.11 19 19198203C> T null R C 156 156 0.002396 missense 0.005 benign 0.33 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs562901844 cosmic curated [Cosmic]: prostate, [ClinVar]: MHC class II deficiency pubmed:22722839,cosmic_study:391 19p13.11 19 19198204G> A null R H 156 156 0.0002 missense 0.005 benign 0.88 tolerated 1 MHC class II deficiency MIM:209920 ClinVar:RCV001124923 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ExAC,TOPMed,gnomAD rs115964828 19p13.11 19 19198203C> A null R S 156 156 0.002396 missense 0.165 benign 0.38 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs761939764 cosmic curated [Cosmic]: lung pubmed:22941188,cosmic_study:423 19p13.11 19 19198209G> A null V M 158 158 missense 0.996 probably damaging 0.04 deleterious 1 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1379140459 19p13.11 19 19198216T> C null I T 160 160 missense 0.972 probably damaging 0.02 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed rs140946419 19p13.11 19 19198219A> G null N S 161 161 missense 0.828 possibly damaging 0.03 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK Ensembl,dbSNP rs1599784374 [ClinVar]: MHC class II deficiency 19p13.11 19 19198226T> A null Y * 163 163 stop gained 0 MHC class II deficiency MIM:209920 ClinVar:RCV001261595 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs754824751 19p13.11 19 19198224T> A null Y N 163 163 missense 1.0 probably damaging 0.03 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs752740364 19p13.11 19 19198657A> C null N H 166 166 missense 0.918 probably damaging 0.01 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1398406438 19p13.11 19 19198663G> T null G W 168 168 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1393172112 19p13.11 19 19198667C> T null T M 169 169 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1281377020 19p13.11 19 19198679A> G null Y C 173 173 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs745335142 19p13.11 19 19198681G> A null A T 174 174 missense 0.985 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs749859039 19p13.11 19 19198687C> T null R C 176 176 missense 0.996 probably damaging 0.07 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs769155207 19p13.11 19 19198688G> A null R H 176 176 missense 0.321 benign 0.47 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs749859039 19p13.11 19 19198687C> A null R S 176 176 missense 0.983 probably damaging 0.18 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs772154823 19p13.11 19 19198691G> C null G A 177 177 missense 0.986 probably damaging 0.01 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs772154823 19p13.11 19 19198691G> A null G E 177 177 missense 0.998 probably damaging 0.01 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs748578827 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 19p13.11 19 19198690G> A null G R 177 177 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R7P0 RFXANK DNA-binding protein RFXANK Ensembl rs1599785560 19p13.11 19 19198694A> T null N I 178 178 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ExAC,TOPMed,gnomAD rs554811149 19p13.11 19 19198698C> G null H Q 179 179 0.000399 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ExAC,TOPMed,gnomAD rs554811149 19p13.11 19 19198698C> A null H Q 179 179 0.000399 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs1170452718 19p13.11 19 19198697A> G null H R 179 179 missense 0.966 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1480941310 19p13.11 19 19198696C> T null H Y 179 179 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs762928386 19p13.11 19 19198699G> A null V M 180 180 missense 0.277 benign 0.06 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ExAC,TOPMed,gnomAD rs201676379 19p13.11 19 19198704A> C null K N 181 181 0.0002 missense 0.966 probably damaging 0.02 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK Ensembl rs1599785615 19p13.11 19 19198703A> G null K R 181 181 missense 0.096 benign 0.2 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs751270105 19p13.11 19 19198708G> A null V I 183 183 missense 0.597 possibly damaging 0.04 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,dbSNP,gnomAD rs140748502 [ClinVar]: MHC class II deficiency 19p13.11 19 19198715C> T null A V 185 185 missense 0.101 benign 0.83 tolerated 0 MHC class II deficiency MIM:209920 ClinVar:RCV000647946 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs1277340509 19p13.11 19 19198723G> A null A T 188 188 missense 0.535 possibly damaging 0.38 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs747402973 19p13.11 19 19199156C> T null R * 189 189 stop gained 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,dbSNP,gnomAD rs757517948 [ClinVar]: MHC class II deficiency 19p13.11 19 19199157G> A null R Q 189 189 missense 0.369 benign 0.13 tolerated 0 MHC class II deficiency MIM:209920 ClinVar:RCV000306670 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs781601864 19p13.11 19 19199159G> T null G C 190 190 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs769970316 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 19p13.11 19 19199162G> A null A T 191 191 missense 0.853 possibly damaging 0.0 deleterious 1 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,dbSNP,gnomAD rs751386365 [ClinVar]: Inherited Immunodeficiency Diseases, [UniProt]: BLS2; loss of expression pubmed:10725724,pubmed:22649097 19p13.11 19 19198676T> C null L P 195 195 missense 0 Bare lymphocyte syndrome 2 (BLS2) A severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections. MIM:209920 pubmed:10072068,pubmed:10725724,pubmed:22649097,pubmed:9806546 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,dbSNP,gnomAD rs751386365 [ClinVar]: Inherited Immunodeficiency Diseases, [UniProt]: BLS2; loss of expression pubmed:10725724,pubmed:22649097 19p13.11 19 19198676T> C null L P 195 195 missense 0 Inherited Immunodeficiency Diseases ClinVar:RCV001027618 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1481038979 cosmic curated [Cosmic]: endometrium cosmic_study:419 19p13.11 19 19199177G> A null E K 196 196 missense 0.918 probably damaging 0.03 deleterious 1 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1479307125 cosmic curated [Cosmic]: oesophagus, [Cosmic]: ovary pubmed:21720365,pubmed:23525077,cosmic_study:331,cosmic_study:464 19p13.11 19 19199183G> A null D N 198 198 missense 0.646 possibly damaging 0.04 deleterious 1 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs760492401 19p13.11 19 19199190G> C null G A 200 200 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,gnomAD rs376955692 19p13.11 19 19199193A> G null Y C 201 201 missense 0.938 probably damaging 0.06 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs758964462 19p13.11 19 19199196C> T null T I 202 202 missense 0.124 benign 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs758964462 19p13.11 19 19199196C> A null T N 202 202 missense 0.053 benign 0.3 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,gnomAD rs377347305 19p13.11 19 19199199C> T null P L 203 203 missense 0.856 possibly damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs764732273 19p13.11 19 19199202T> C null M T 204 204 missense 0.498 possibly damaging 0.01 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs757742036 cosmic curated [Cosmic]: lung pubmed:23033341,cosmic_study:456 19p13.11 19 19199213G> A null V M 208 208 missense 0.144 benign 0.08 tolerated 1 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs746164654 19p13.11 19 19199225T> C null Y H 212 212 missense 0.007 benign 1.0 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143964319 19p13.11 19 19199228C> G null R G 213 213 0.000998 missense 0.303 benign 0.01 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs780122862 19p13.11 19 19199229G> C null R P 213 213 missense 0.033 benign 0.05 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs780122862 19p13.11 19 19199229G> A null R Q 213 213 missense 0.152 benign 0.08 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs143964319 [ClinVar]: MHC class II deficiency 19p13.11 19 19199228C> T null R W 213 213 0.000998 missense 0.945 probably damaging 0.0 deleterious 0 MHC class II deficiency MIM:209920 ClinVar:RCV000647945 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1269324522 19p13.11 19 19199231A> G null K E 214 214 missense 0.281 benign 0.13 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs769532234 19p13.11 19 19201657G> T null V L 218 218 missense 0.01 benign 0.06 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs769532234 19p13.11 19 19201657G> A null V M 218 218 missense 0.756 possibly damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,dbSNP,gnomAD rs200043123 [ClinVar]: MHC class II deficiency 19p13.11 19 19201662C> G null I M 219 219 missense 0.034 benign 0.21 tolerated 0 MHC class II deficiency MIM:209920 ClinVar:RCV000647944 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1456448826 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 19p13.11 19 19201663G> A null E K 220 220 missense 0.964 probably damaging 0.0 deleterious 1 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs1015461724 19p13.11 19 19201669C> G null H D 222 222 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs1015461724 19p13.11 19 19201669C> T null H Y 222 222 missense 1.0 probably damaging 0.21 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,gnomAD rs377064458 19p13.11 19 19201681C> G null L V 226 226 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1802498 19p13.11 19 19201687C> T null Q * 228 228 0.03714 stop gained 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs761097826 19p13.11 19 19201690A> G null S G 229 229 missense 0.005 benign 0.1 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs765477759 19p13.11 19 19201703C> T null P L 233 233 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs759707164 19p13.11 19 19201702C> T null P S 233 233 missense 0.998 probably damaging 0.02 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1294355115 19p13.11 19 19201705G> A null A T 234 234 missense 0.0 benign 0.61 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs199868077 19p13.11 19 19201711C> G null P A 236 236 missense 0.005 benign 0.0 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs199868077 19p13.11 19 19201711C> T null P S 236 236 missense 0.133 benign 0.0 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs199868077 19p13.11 19 19201711C> A null P T 236 236 missense 0.133 benign 0.0 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs756078268 19p13.11 19 19201715A> C null E A 237 237 missense 0.969 probably damaging 0.01 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,gnomAD rs150729244 19p13.11 19 19201714G> A null E K 237 237 missense 0.969 probably damaging 0.09 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1802498 [ClinVar]: MHC class II deficiency 19p13.11 19 19201687C> G null Q E 251 251 0.03714 missense 0 MHC class II deficiency MIM:209920 ClinVar:RCV000525677 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs200374147 8q12.3 8 63186168T> C null S P 2 2 missense 0.969 probably damaging 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs139728132 8q12.3 8 63186172A> G null D G 3 3 missense 0.958 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1472505316 8q12.3 8 63186180A> G null M V 6 6 missense 0.0 benign 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs755677765 8q12.3 8 63186187G> A null S N 8 8 missense 0.932 probably damaging 0.1 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1380111417 8q12.3 8 63186192T> C null Y H 10 10 missense 0.987 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs777802604 8q12.3 8 63186195G> A null A T 11 11 missense 0.515 possibly damaging 0.19 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs749247122 8q12.3 8 63186204A> G null I V 14 14 missense 0.011 benign 0.06 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC rs757043254 8q12.3 8 63186222C> G null L V 20 20 missense 0.952 probably damaging 0.11 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1310588388 8q12.3 8 63186234G> A null A T 24 24 missense 0.515 possibly damaging 0.41 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1340523612 8q12.3 8 63186235C> T null A V 24 24 missense 0.448 possibly damaging 0.09 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1352320447 8q12.3 8 63186238G> T null W L 25 25 missense 0.245 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs776951090 8q12.3 8 63186253A> C null D A 30 30 missense 0.986 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1307590918 8q12.3 8 63186252G> C null D H 30 30 missense 0.993 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs748138153 8q12.3 8 63186261A> G null M V 33 33 missense 0.678 possibly damaging 0.22 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1253383386 8q12.3 8 63186276A> G null T A 38 38 missense 0.171 benign 0.27 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1231721269 8q12.3 8 63186292G> A null S N 43 43 missense 0.105 benign 0.08 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1287534319 8q12.3 8 63186310A> G null Y C 49 49 missense 0.0 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs1014099388 8q12.3 8 63186312A> C null I L 50 50 missense 0.0 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs769939625 8q12.3 8 63186315C> G null P A 51 51 missense 0.986 probably damaging 0.23 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1482918755 8q12.3 8 63186316C> T null P L 51 51 missense 0.994 probably damaging 0.1 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs771521146 8q12.3 8 63186336C> G null P A 58 58 missense 0.005 benign 0.04 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1037783524 8q12.3 8 63186337C> T null P L 58 58 missense 0.272 benign 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs771521146 8q12.3 8 63186336C> A null P T 58 58 missense 0.185 benign 0.06 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs763456577 8q12.3 8 63186342G> A null A T 60 60 missense 0.0 benign 0.23 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1211912168 8q12.3 8 63186352A> G null N S 63 63 missense 0.026 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1304568727 8q12.3 8 63186360C> T null P S 66 66 missense 0.5 possibly damaging 0.25 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1174148188 8q12.3 8 63186366C> T null L F 68 68 missense 0.27 benign 0.24 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1455662146 8q12.3 8 63186378G> A null G R 72 72 missense 0.026 benign 0.58 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1360236329 8q12.3 8 63186394C> T null P L 77 77 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs752412447 8q12.3 8 63186396G> A null G S 78 78 missense 0.01 benign 0.6 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1199160329 8q12.3 8 63186399A> C null N H 79 79 missense 0.36 benign 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs267601964 8q12.3 8 63186410C> A null F L 82 82 missense 0.066 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1341759262 8q12.3 8 63186414A> G null T A 84 84 missense 0.014 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs763699606 8q12.3 8 63186426A> G null S G 88 88 missense 0.132 benign 0.09 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs753463627 8q12.3 8 63186427G> A null S N 88 88 missense 0.143 benign 0.21 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1257556040 8q12.3 8 63186451A> G null Q R 96 96 missense 0.063 benign 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs970092062 8q12.3 8 63186453A> G null S G 97 97 missense 0.132 benign 0.1 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs757245389 8q12.3 8 63186455T> A null S R 97 97 missense 0.441 benign 0.06 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1387898634 8q12.3 8 63186471A> G null S G 103 103 missense 0.046 benign 0.2 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs906756052 8q12.3 8 63186495C> G null L V 111 111 missense 0.157 benign 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1356070814 8q12.3 8 63186499G> T null G V 112 112 missense 0.326 benign 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs745618517 8q12.3 8 63186505C> G null A G 114 114 missense 0.16 benign 0.23 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1003733429 8q12.3 8 63186517G> C null G A 118 118 missense 0.992 probably damaging 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1454606619 8q12.3 8 63186522G> A null A T 120 120 missense 0.515 possibly damaging 0.99 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1295524712 8q12.3 8 63186526G> A null G E 121 121 missense 0.452 possibly damaging 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs573898918 8q12.3 8 63186535A> G null N S 124 124 0.000399 missense 0.0 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs781222654 8q12.3 8 63186541C> A null T N 126 126 missense 0.017 benign 0.05 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs781222654 8q12.3 8 63186541C> G null T S 126 126 missense 0.0 benign 0.24 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1374578995 8q12.3 8 63186544T> G null L W 127 127 missense 0.005 benign 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs748417403 8q12.3 8 63186548T> A null S R 128 128 missense 0.0 benign 0.06 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs769696584 8q12.3 8 63186553T> G null V G 130 130 missense 0.0 benign 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs778188005 8q12.3 8 63186561A> G null I V 133 133 missense 0.007 benign 0.16 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs749430267 8q12.3 8 63186565G> T null S I 134 134 missense 0.137 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs771410194 8q12.3 8 63186567A> G null S G 135 135 missense 0.023 benign 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1186727270 8q12.3 8 63186571T> C null I T 136 136 missense 0.95 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1358702676 8q12.3 8 63186570A> G null I V 136 136 missense 0.785 possibly damaging 0.51 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1421266578 8q12.3 8 63186575G> C null E D 137 137 missense 0.0 benign 0.28 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs774882606 8q12.3 8 63186577A> C null Q P 138 138 missense 0.954 probably damaging 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1406665873 8q12.3 8 63186579G> A null G S 139 139 missense 0.396 benign 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs13255728 8q12.3 8 63186585A> G null T A 141 141 missense 0.0 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs13255987 8q12.3 8 63186586C> G null T S 141 141 missense 0.001 benign 0.73 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1387989520 8q12.3 8 63186610T> G null L R 149 149 missense 0.125 benign 0.2 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs767933495 8q12.3 8 63186612A> G null T A 150 150 missense 0.0 benign 0.73 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs760368020 8q12.3 8 63186615G> C null A P 151 151 missense 0.543 possibly damaging 0.19 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a 1000Genomes,ExAC,gnomAD rs544382837 8q12.3 8 63186618G> T null A S 152 152 0.0002 missense 0.039 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC rs753373699 8q12.3 8 63186633G> A null V I 157 157 missense 0.265 benign 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs750251668 8q12.3 8 63186636G> C null G R 158 158 missense 0.278 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs756867588 8q12.3 8 63186639A> G null T A 159 159 missense 0.0 benign 0.17 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs758071490 8q12.3 8 63186655G> A null S N 164 164 missense 0.0 benign 0.26 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs772802725 8q12.3 8 63186657G> A null G S 165 165 missense 0.795 possibly damaging 0.4 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1411811367 8q12.3 8 63186661T> C null M T 166 166 missense 0.084 benign 0.8 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs201903186 8q12.3 8 63186667G> A null S N 168 168 missense 0.324 benign 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1429741243 8q12.3 8 63186676C> T null T I 171 171 missense 0.006 benign 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs771034100 8q12.3 8 63186679A> G null N S 172 172 missense 0.003 benign 0.19 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs749338824 8q12.3 8 63186678A> T null N Y 172 172 missense 0.298 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61740399 8q12.3 8 63186682G> A null S N 173 173 0.009185 missense 0.0 benign 0.24 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1401328415 8q12.3 8 63186688C> T null P L 175 175 missense 0.0 benign 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs1563401820 8q12.3 8 63186687C> T null P S 175 175 missense 0.141 benign 0.13 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1320405161 8q12.3 8 63186691C> T null P L 176 176 missense 0.481 possibly damaging 0.04 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1436049766 8q12.3 8 63186694T> G null V G 177 177 missense 0.059 benign 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs746387401 8q12.3 8 63186697G> A null S N 178 178 missense 0.003 benign 0.37 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs746387401 8q12.3 8 63186697G> C null S T 178 178 missense 0.054 benign 0.43 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs987018453 8q12.3 8 63186700G> C null S T 179 179 missense 0.05 benign 0.83 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1347776731 8q12.3 8 63186709C> T null P L 182 182 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1487556492 8q12.3 8 63186711A> G null K E 183 183 missense 0.956 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs772519482 8q12.3 8 63186714C> G null P A 184 184 missense 0.007 benign 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs760992097 8q12.3 8 63186718C> T null T I 185 185 missense 0.001 benign 0.22 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs1585759092 8q12.3 8 63186717A> C null T P 185 185 missense 0.202 benign 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs776453859 8q12.3 8 63186720T> A null S T 186 186 missense 0.899 possibly damaging 0.23 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs764853148 8q12.3 8 63186732A> G null I V 190 190 missense 0.785 possibly damaging 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs370117149 8q12.3 8 63186738A> G null R G 192 192 missense 0.026 benign 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs1585759171 8q12.3 8 63186743G> C null K N 193 193 missense 0.981 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs920033275 8q12.3 8 63186756C> T null Q * 198 198 stop gained 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1470484863 8q12.3 8 63186760C> T null P L 199 199 missense 0.005 benign 0.04 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs751349389 8q12.3 8 63186759C> T null P S 199 199 missense 0.5 possibly damaging 0.06 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1401403842 8q12.3 8 63186771C> A null P T 203 203 missense 0.992 probably damaging 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1387183451 8q12.3 8 63186774A> G null K E 204 204 missense 0.956 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1301644028 8q12.3 8 63186780A> C null N H 206 206 missense 0.27 benign 0.08 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200284548 8q12.3 8 63186781A> G null N S 206 206 0.000599 missense 0.0 benign 0.43 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1301644028 8q12.3 8 63186780A> T null N Y 206 206 missense 0.27 benign 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1367728289 8q12.3 8 63186789A> G null I V 209 209 missense 0.0 benign 0.55 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC rs779043943 8q12.3 8 63186796G> T null G V 211 211 missense 0.0 benign 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs745990022 8q12.3 8 63186798T> C null S P 212 212 missense 0.0 benign 0.44 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs772608530 8q12.3 8 63186801G> C null A P 213 213 missense 0.266 benign 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs780463786 8q12.3 8 63186802C> T null A V 213 213 missense 0.037 benign 0.13 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs1585759346 8q12.3 8 63186804G> C null V L 214 214 missense 0.0 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1444993722 8q12.3 8 63186808C> T null P L 215 215 missense 0.0 benign 0.2 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs747337578 8q12.3 8 63186819A> G null I V 219 219 missense 0.785 possibly damaging 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs771234146 8q12.3 8 63186822A> G null K E 220 220 missense 0.956 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1244667483 8q12.3 8 63186829A> G null N S 222 222 missense 0.015 benign 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs962515764 8q12.3 8 63186833G> T null M I 223 223 missense 0.0 benign 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs1046018521 8q12.3 8 63186832T> C null M T 223 223 missense 0.01 benign 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs769164848 8q12.3 8 63186831A> G null M V 223 223 missense 0.0 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1276218385 8q12.3 8 63186834A> C null N H 224 224 missense 0.796 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs776365957 8q12.3 8 63186837A> G null I V 225 225 missense 0.006 benign 0.04 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs973902131 8q12.3 8 63186851T> G null D E 229 229 missense 0.0 benign 0.28 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1234964985 8q12.3 8 63186856A> G null K R 231 231 missense 0.956 probably damaging 0.06 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs761562716 8q12.3 8 63186859G> T null G V 232 232 missense 0.131 benign 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs769401599 8q12.3 8 63186862C> T null S L 233 233 missense 0.043 benign 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1483110032 8q12.3 8 63186864G> C null V L 234 234 missense 0.0 benign 0.26 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1328292355 8q12.3 8 63186867G> A null V I 235 235 missense 0.003 benign 0.08 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs772767802 8q12.3 8 63186870A> G null K E 236 236 missense 0.355 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs762422750 8q12.3 8 63186873G> A null A T 237 237 missense 0.0 benign 0.14 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1440257654 8q12.3 8 63186874C> T null A V 237 237 missense 0.034 benign 0.23 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs766311978 8q12.3 8 63186877C> A null P Q 238 238 missense 0.994 probably damaging 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1251739533 8q12.3 8 63186876C> A null P T 238 238 missense 0.992 probably damaging 0.04 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1001639777 8q12.3 8 63186880C> T null P L 239 239 missense 0.0 benign 0.37 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1001639777 8q12.3 8 63186880C> A null P Q 239 239 missense 0.043 benign 0.26 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs1032663224 8q12.3 8 63186882A> G null T A 240 240 missense 0.0 benign 0.87 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs759282105 8q12.3 8 63186883C> A null T N 240 240 missense 0.0 benign 0.54 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1167632086 8q12.3 8 63186888C> T null P S 242 242 missense 0.0 benign 0.75 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1464419119 8q12.3 8 63186894C> A null L M 244 244 missense 0.025 benign 0.26 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs767300438 8q12.3 8 63186897C> A null P T 245 245 missense 0.992 probably damaging 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1419190017 8q12.3 8 63186903C> G null Q E 247 247 missense 0.857 possibly damaging 0.08 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs892910092 8q12.3 8 63186907C> T null T I 248 248 missense 0.103 benign 0.17 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs1009961596 8q12.3 8 63186913T> G null I S 250 250 missense 0.04 benign 0.65 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1047701169 8q12.3 8 63186922C> T null P L 253 253 missense 0.202 benign 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1047701169 8q12.3 8 63186922C> G null P R 253 253 missense 0.202 benign 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs765423467 8q12.3 8 63186942C> T null P S 260 260 missense 0.047 benign 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs1020473519 8q12.3 8 63186955A> G null Q R 264 264 missense 0.901 possibly damaging 0.52 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs955485957 8q12.3 8 63186961A> G null Q R 266 266 missense 0.047 benign 0.6 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1432857863 8q12.3 8 63186971A> T null Q H 269 269 missense 0.0 benign 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1225737280 8q12.3 8 63186979C> T null P L 272 272 missense 0.0 benign 0.71 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs758438116 8q12.3 8 63186985C> A null P Q 274 274 missense 0.0 benign 0.2 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs780560299 8q12.3 8 63186988C> T null P L 275 275 missense 0.0 benign 0.11 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs780560299 8q12.3 8 63186988C> G null P R 275 275 missense 0.076 benign 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1392203257 8q12.3 8 63186987C> T null P S 275 275 missense 0.047 benign 0.1 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs939616143 8q12.3 8 63186993C> T null P S 277 277 missense 0.0 benign 0.31 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs964314471 8q12.3 8 63187000A> G null Q R 279 279 missense 0.009 benign 0.42 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs974503837 8q12.3 8 63187003A> C null Q P 280 280 missense 0.185 benign 0.24 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs781688462 8q12.3 8 63187008G> C null G R 282 282 missense 0.108 benign 0.32 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs772783105 8q12.3 8 63187015A> G null Q R 284 284 missense 0.025 benign 0.46 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1272978886 8q12.3 8 63187024C> G null A G 287 287 missense 0.25 benign 0.51 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1476575863 8q12.3 8 63187023G> C null A P 287 287 missense 0.006 benign 0.82 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1171224886 8q12.3 8 63187027A> C null Q P 288 288 missense 0.058 benign 0.23 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs774204229 8q12.3 8 63187030C> G null P R 289 289 missense 0.054 benign 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs568180760 8q12.3 8 63187029C> T null P S 289 289 0.000998 missense 0.001 benign 0.19 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1336741967 8q12.3 8 63187035C> G null Q E 291 291 missense 0.007 benign 0.41 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs759461793 8q12.3 8 63187037A> C null Q H 291 291 missense 0.0 benign 0.55 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs1563402465 8q12.3 8 63187039T> C null V A 292 292 missense 0.0 benign 0.51 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC rs760500603 8q12.3 8 63187064G> T null Q H 300 300 missense 0.0 benign 0.1 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs765457330 8q12.3 8 63187067T> A null N K 301 301 missense 0.018 benign 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1272869293 8q12.3 8 63187069G> A null R H 302 302 missense 0.551 possibly damaging 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1322639186 8q12.3 8 63187078C> T null A V 305 305 missense 0.003 benign 0.06 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1204215985 8q12.3 8 63187080C> G null P A 306 306 missense 0.187 benign 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs750632736 8q12.3 8 63187083C> T null R C 307 307 missense 0.116 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs563216596 8q12.3 8 63187084G> A null R H 307 307 missense 0.089 benign 0.08 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs751757480 8q12.3 8 63187099G> T null G V 312 312 missense 0.145 benign 0.19 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs755530257 8q12.3 8 63187104A> C null N H 314 314 missense 0.0 benign 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs781777381 8q12.3 8 63187109G> C null Q H 315 315 missense 0.0 benign 0.23 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs201205275 8q12.3 8 63187114A> G null N S 317 317 missense 0.0 benign 0.8 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs756469901 8q12.3 8 63187119G> A null A T 319 319 missense 0.003 benign 0.48 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs777437074 8q12.3 8 63187120C> T null A V 319 319 missense 0.0 benign 0.52 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs770679480 8q12.3 8 63187125A> G null S G 321 321 missense 0.0 benign 0.57 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1287802036 8q12.3 8 63187136T> G null F L 324 324 missense 0.024 benign 0.65 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs773834763 8q12.3 8 63187138G> C null G A 325 325 missense 0.025 benign 0.11 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1383562606 8q12.3 8 63187140T> A null L I 326 326 missense 0.147 benign 0.47 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs771964036 8q12.3 8 63187143G> A null G S 327 327 missense 0.997 probably damaging 0.09 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs763809507 8q12.3 8 63187150T> C null V A 329 329 missense 0.023 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375247562 8q12.3 8 63187149G> A null V I 329 329 missense 0.001 benign 0.28 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs773417481 8q12.3 8 63187153C> T null P L 330 330 missense 0.133 benign 0.11 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs765997680 8q12.3 8 63187155G> C null V L 331 331 missense 0.0 benign 0.68 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1208284167 8q12.3 8 63187162C> T null A V 333 333 missense 0.001 benign 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs766768080 8q12.3 8 63187165C> T null S L 334 334 missense 0.08 benign 0.18 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs751669769 8q12.3 8 63187167C> T null P S 335 335 missense 0.035 benign 0.12 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1250181631 8q12.3 8 63187174G> C null S T 337 337 missense 0.039 benign 0.38 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1348702383 8q12.3 8 63187189C> G null P R 342 342 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs368150163 8q12.3 8 63187191G> T null V L 343 343 missense 0.038 benign 0.16 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs368150163 8q12.3 8 63187191G> A null V M 343 343 missense 0.015 benign 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs756447302 8q12.3 8 63187194C> A null L M 344 344 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs777992273 8q12.3 8 63187197G> A null E K 345 345 missense 0.971 probably damaging 0.04 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1405286308 8q12.3 8 63187207A> G null K R 348 348 missense 0.003 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs756835273 8q12.3 8 63187209G> T null A S 349 349 missense 0.005 benign 0.57 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1018108836 8q12.3 8 63187214A> G null I M 350 350 missense 0.003 benign 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1357749375 8q12.3 8 63187215A> T null N Y 351 351 missense 0.994 probably damaging 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1371019684 8q12.3 8 63187234A> C null D A 357 357 missense 0.991 probably damaging 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs771592020 8q12.3 8 63187246A> G null N S 361 361 missense 0.0 benign 0.14 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs779908098 8q12.3 8 63187249T> C null L P 362 362 missense 0.007 benign 0.22 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1291282762 8q12.3 8 63187252A> G null K R 363 363 missense 0.956 probably damaging 0.22 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1360480915 8q12.3 8 63187260C> T null R C 366 366 missense 0.005 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs761718898 8q12.3 8 63187296A> G null I V 378 378 missense 0.935 probably damaging 0.11 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC rs771248491 8q12.3 8 63187306C> G null S C 381 381 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1181250118 8q12.3 8 63187308A> C null I L 382 382 missense 0.935 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs767721927 8q12.3 8 63187318C> G null S C 385 385 missense 0.688 possibly damaging 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs767721927 8q12.3 8 63187318C> T null S F 385 385 missense 0.621 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs759642549 8q12.3 8 63187317T> A null S T 385 385 missense 0.005 benign 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs753185035 8q12.3 8 63187320A> G null I V 386 386 missense 0.001 benign 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs761069568 8q12.3 8 63187337G> C null E D 391 391 missense 0.148 benign 0.19 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1298660867 8q12.3 8 63187348A> G null K R 395 395 missense 0.989 probably damaging 0.06 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1375498529 8q12.3 8 63187351G> A null R H 396 396 missense 0.623 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1406842826 8q12.3 8 63187362G> A null A T 400 400 missense 0.635 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs892773232 8q12.3 8 63187368C> T null R C 402 402 missense 0.022 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs764707405 8q12.3 8 63187369G> A null R H 402 402 missense 0.013 benign 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs757647498 8q12.3 8 63187390C> A null P Q 409 409 missense 0.784 possibly damaging 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs750088240 8q12.3 8 63187392C> G null L V 410 410 missense 0.413 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs367772925 8q12.3 8 63187396A> G null Y C 411 411 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1460389250 8q12.3 8 63187401C> T null L F 413 413 missense 0.996 probably damaging 0.55 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs764411560 8q12.3 8 63187402T> C null L P 413 413 missense 0.998 probably damaging 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs746588064 8q12.3 8 63187404T> G null F V 414 414 missense 0.982 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs1563403044 8q12.3 8 63187407A> G null S G 415 415 missense 0.199 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs878945635 8q12.3 8 63187425C> T null H Y 421 421 missense 0.982 probably damaging 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1417013252 8q12.3 8 63187453C> G null S C 430 430 missense 0.996 probably damaging 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs890870386 8q12.3 8 63187455G> C null V L 431 431 missense 0.028 benign 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375939861 8q12.3 8 63187458G> T null V L 432 432 0.0002 missense 0.983 probably damaging 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1170926529 8q12.3 8 63187461G> A null D N 433 433 missense 0.994 probably damaging 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs751873623 8q12.3 8 63187465A> G null Y C 434 434 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs751873623 8q12.3 8 63187465A> C null Y S 434 434 missense 0.995 probably damaging 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs372046184 8q12.3 8 63187471C> A null A E 436 436 missense 0.903 possibly damaging 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs372046184 8q12.3 8 63187471C> G null A G 436 436 missense 0.802 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs372046184 8q12.3 8 63187471C> T null A V 436 436 missense 0.545 possibly damaging 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1454690692 8q12.3 8 63187474A> G null Y C 437 437 missense 0.017 benign 0.45 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,ExAC,gnomAD rs369089663 8q12.3 8 63187477C> T null A V 438 438 missense 0.737 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1361563740 8q12.3 8 63187495A> G null D G 444 444 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1215472863 8q12.3 8 63187504A> G null K R 447 447 missense 0.989 probably damaging 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs777214855 8q12.3 8 63187510A> G null K R 449 449 missense 0.989 probably damaging 0.39 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs765589874 8q12.3 8 63187516A> G null E G 451 451 missense 0.18 benign 0.04 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs1026949046 8q12.3 8 63187529C> G null I M 455 455 missense 0.29 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,TOPMed,gnomAD rs372861604 8q12.3 8 63187531T> G null F C 456 456 missense 0.933 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1264372502 8q12.3 8 63187534T> C null V A 457 457 missense 0.374 benign 0.1 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs766105168 8q12.3 8 63187537A> G null K R 458 458 missense 0.007 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1239967302 8q12.3 8 63187542G> A null V I 460 460 missense 0.449 possibly damaging 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs751003990 8q12.3 8 63187546C> G null P R 461 461 missense 0.812 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs780945794 8q12.3 8 63187555A> C null Q P 464 464 missense 0.604 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1429953895 8q12.3 8 63187569C> T null R C 469 469 missense 0.667 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs767444673 8q12.3 8 63187570G> A null R H 469 469 missense 0.005 benign 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs772389646 8q12.3 8 63187588A> G null N S 475 475 missense 0.374 benign 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1290925370 8q12.3 8 63187594C> T null P L 477 477 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1272771307 8q12.3 8 63187621A> T null E V 486 486 missense 0.031 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1322236802 8q12.3 8 63187623G> A null V I 487 487 missense 0.031 benign 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs762303497 8q12.3 8 63187633A> G null E G 490 490 missense 0.808 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs867011657 8q12.3 8 63187638G> T null A S 492 492 missense 0.414 benign 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1489782307 8q12.3 8 63187663C> G null A G 500 500 missense 0.405 benign 0.3 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs765792093 8q12.3 8 63187662G> T null A S 500 500 missense 0.089 benign 0.96 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1198456744 8q12.3 8 63187665A> G null T A 501 501 missense 0.007 benign 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1269450252 8q12.3 8 63187666C> G null T S 501 501 missense 0.096 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1156822759 8q12.3 8 63187669T> A null F Y 502 502 missense 0.01 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1043923299 8q12.3 8 63187678C> G null T S 505 505 missense 0.028 benign 0.27 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1407343819 8q12.3 8 63187686A> G null I V 508 508 missense 0.785 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1161527430 8q12.3 8 63187692G> C null D H 510 510 missense 0.67 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1161527430 8q12.3 8 63187692G> A null D N 510 510 missense 0.005 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1404680481 8q12.3 8 63187717G> A null R H 518 518 missense 0.0 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1304158076 8q12.3 8 63187723A> G null E G 520 520 missense 0.968 probably damaging 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1324764103 8q12.3 8 63187722G> A null E K 520 520 missense 0.956 probably damaging 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1440659752 8q12.3 8 63187738T> C null M T 525 525 missense 0.017 benign 0.28 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs373841599 8q12.3 8 63187740C> T null R C 526 526 missense 0.412 benign 0.05 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs765910246 8q12.3 8 63187741G> A null R H 526 526 missense 0.116 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs751249316 8q12.3 8 63187744G> A null R K 527 527 missense 0.0 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs764086442 8q12.3 8 63209686A> G null R G 529 529 missense 0.879 possibly damaging 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs1585795713 8q12.3 8 63209693G> T null R I 531 531 missense 0.944 probably damaging 0.0 deleterious - low confidence 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs1554541478 8q12.3 8 63209697C> A null N K 532 532 missense 0.932 probably damaging 0.01 deleterious - low confidence 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202058325 8q12.3 8 63209696A> G null N S 532 532 0.000599 missense 0.899 possibly damaging 0.34 tolerated - low confidence 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs13274195 8q12.3 8 63209700A> C null K N 533 533 missense 0.95 probably damaging 0.0 deleterious - low confidence 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs756945996 8q12.3 8 63209705A> T null * L 535 535 stop lost 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1437102436 8q12.3 8 63209704T> C null * Q 535 535 stop lost 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1192838384 8q12.3 8 63209704_63209706de l null * del 535 535 stop lost 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1166024852 9q34.13 9 132986682C> A null P T 2 2 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1472210411 9q34.13 9 132986685C> T null R C 3 3 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs528249677 9q34.13 9 132986705C> A null S R 9 9 0.0002 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1431101028 9q34.13 9 132986712G> A null A T 12 12 missense 0.312 benign 0.05 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1009956222 9q34.13 9 132986715C> T null H Y 13 13 missense 0.073 benign 0.1 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1564177115 9q34.13 9 132986719C> T null T I 14 14 missense 0.697 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1481886997 cosmic curated [Cosmic]: upper_aerodigestive_tract pubmed:23619168,cosmic_study:561 9q34.13 9 132986718A> T null T S 14 14 missense 0.043 benign 0.99 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1021775815 9q34.13 9 132986726C> G null H Q 16 16 missense 0.999 probably damaging 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1361526628 9q34.13 9 132986731C> T null P L 18 18 missense 1.0 probably damaging 0.04 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1292353837 9q34.13 9 132986730C> T null P S 18 18 missense 1.0 probably damaging 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs753257069 9q34.13 9 132986733C> T null R C 19 19 missense 0.171 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,gnomAD rs143455917 9q34.13 9 132986734G> A null R H 19 19 missense 0.171 benign 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs776935786 9q34.13 9 132986742G> A null E K 22 22 missense 0.393 benign 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1370237253 9q34.13 9 132986746A> G null D G 23 23 missense 0.46 possibly damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs544599977 9q34.13 9 132986745G> A null D N 23 23 0.004593 missense 0.041 benign 0.07 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,gnomAD rs556644999 9q34.13 9 132986748G> T null E * 24 24 0.0002 stop gained 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs775541235 9q34.13 9 132986749A> G null E G 24 24 missense 0.003 benign 0.45 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,gnomAD rs556644999 9q34.13 9 132986748G> A null E K 24 24 0.0002 missense 0.197 benign 0.49 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs764276098 9q34.13 9 132986752C> T null P L 25 25 missense 0.015 benign 0.45 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs764276098 9q34.13 9 132986752C> A null P Q 25 25 missense 0.93 probably damaging 0.12 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs938560000 9q34.13 9 132986751C> T null P S 25 25 missense 0.697 possibly damaging 0.25 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs1143162 9q34.13 9 132986764C> A null P H 29 29 missense 0.866 possibly damaging 0.05 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs1143162 9q34.13 9 132986764C> T null P L 29 29 missense 0.025 benign 0.21 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1402824889 9q34.13 9 132986763C> T null P S 29 29 missense 0.043 benign 0.05 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs778609270 9q34.13 9 132986769C> T null L F 31 31 missense 0.018 benign 0.18 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1446582350 9q34.13 9 132986773C> T null T I 32 32 missense 0.001 benign 0.09 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1446582350 9q34.13 9 132986773C> A null T N 32 32 missense 0.038 benign 0.11 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1564177246 9q34.13 9 132986772A> C null T P 32 32 missense 0.001 benign 0.12 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1564177246 9q34.13 9 132986772A> T null T S 32 32 missense 0.0 benign 1.0 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1446582350 9q34.13 9 132986773C> G null T S 32 32 missense 0.0 benign 1.0 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs568826386 9q34.13 9 132986776C> T null P L 33 33 0.0002 missense 0.698 possibly damaging 0.1 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs114955344 9q34.13 9 132986778G> A null V M 34 34 0.006589 missense 0.694 possibly damaging 0.25 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1344576755 9q34.13 9 132987285C> A null P H 35 35 missense 0.451 possibly damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1588438405 9q34.13 9 132987284C> T null P S 35 35 missense 0.023 benign 0.27 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs975575009 9q34.13 9 132987287A> G null R G 36 36 missense 0.001 benign 0.5 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1316317138 9q34.13 9 132987297C> G null A G 39 39 missense 0.003 benign 0.42 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs377661083 9q34.13 9 132987299C> T null P S 40 40 missense 0.003 benign 0.82 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1588438461 9q34.13 9 132987311C> A null P T 44 44 missense 0.92 probably damaging 0.14 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs776592642 9q34.13 9 132987318T> G null L R 46 46 missense 0.776 possibly damaging 0.3 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1443015063 9q34.13 9 132987321G> A null S N 47 47 missense 0.012 benign 0.19 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs370708708 9q34.13 9 132987322C> G null S R 47 47 missense 0.444 benign 0.17 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1202082073 9q34.13 9 132987323A> T null T S 48 48 missense 0.026 benign 0.64 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs947590696 9q34.13 9 132987326C> G null L V 49 49 missense 0.018 benign 0.28 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139685732 9q34.13 9 132987329T> C null F L 50 50 0.001797 missense 0.001 benign 0.8 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1373207619 9q34.13 9 132987335A> T null N Y 52 52 missense 0.5 possibly damaging 0.17 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs545885234 9q34.13 9 132987347G> T null D Y 56 56 0.0002 missense 0.694 possibly damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs934326404 9q34.13 9 132987352G> C null W C 57 57 missense 0.106 benign 0.08 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1364914633 9q34.13 9 132987350T> C null W R 57 57 missense 0.967 probably damaging 0.32 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202104252 9q34.13 9 132987354C> T null T I 58 58 0.000399 missense 0.243 benign 0.19 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202104252 9q34.13 9 132987354C> A null T N 58 58 0.000399 missense 0.005 benign 0.64 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149810016 9q34.13 9 132987359C> T null L F 60 60 0.007188 missense 0.007 benign 0.34 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs149810016 9q34.13 9 132987359C> A null L I 60 60 0.007188 missense 0.005 benign 0.18 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1381935874 9q34.13 9 132987360T> C null L P 60 60 missense 0.007 benign 0.13 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1296372718 9q34.13 9 132987365C> T null R * 62 62 stop gained 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs749864797 9q34.13 9 132987366G> A null R Q 62 62 missense 0.005 benign 0.58 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs755483011 9q34.13 9 132987372C> T null P L 64 64 missense 0.207 benign 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs755483011 9q34.13 9 132987372C> G null P R 64 64 missense 0.022 benign 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1360853713 9q34.13 9 132987375A> G null E G 65 65 missense 0.0 benign 0.17 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs373691272 9q34.13 9 132987381A> G null E G 67 67 missense 0.005 benign 0.36 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs748212888 9q34.13 9 132987380G> C null E Q 67 67 missense 0.014 benign 0.41 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs778075619 9q34.13 9 132987390A> G null Q R 70 70 missense 0.003 benign 0.46 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs745670907 9q34.13 9 132987396T> C null L S 72 72 missense 0.046 benign 0.15 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs769769380 9q34.13 9 132987398G> T null A S 73 73 missense 0.003 benign 0.84 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1429729062 9q34.13 9 132987401A> G null R G 74 74 missense 0.236 benign 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1429729062 9q34.13 9 132987401A> T null R W 74 74 missense 0.926 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs775420059 9q34.13 9 132987404A> C null M L 75 75 missense 0.0 benign 0.78 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1384514886 9q34.13 9 132987405T> G null M R 75 75 missense 0.078 benign 0.63 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,gnomAD rs368601873 9q34.13 9 132987411C> T null P L 77 77 missense 0.0 benign 0.29 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1022720842 9q34.13 9 132987419G> A null E K 80 80 missense 0.041 benign 0.43 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs115534814 9q34.13 9 132988200G> T null G V 81 81 0.004593 missense 0.027 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs760373604 9q34.13 9 132988202C> T null P S 82 82 missense 0.015 benign 0.34 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs760373604 9q34.13 9 132988202C> A null P T 82 82 missense 0.236 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs765677480 9q34.13 9 132988214T> A null S T 86 86 missense 0.272 benign 0.31 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1220919198 9q34.13 9 132988217C> T null R * 87 87 stop gained 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs200908551 9q34.13 9 132988218G> C null R P 87 87 missense 0.626 possibly damaging 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs200908551 9q34.13 9 132988218G> A null R Q 87 87 missense 0.007 benign 0.47 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1263195120 9q34.13 9 132988221C> G null P R 88 88 missense 0.361 benign 0.07 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs767778204 9q34.13 9 132988230G> A null G E 91 91 missense 0.046 benign 0.33 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,gnomAD rs565772612 cosmic curated [Cosmic]: central_nervous_system pubmed:24140581,cosmic_study:548 9q34.13 9 132988229G> A null G R 91 91 0.000399 missense 0.031 benign 0.5 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1470967398 9q34.13 9 132988236C> T null S F 93 93 missense 0.436 benign 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs781432577 9q34.13 9 132988245C> T null S F 96 96 missense 0.924 probably damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145562579 cosmic curated [Cosmic]: central_nervous_system cosmic_study:329 9q34.13 9 132988247G> A null D N 97 97 0.01178 missense 0.027 benign 0.23 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143926538 9q34.13 9 132988251C> A null S * 98 98 0.0002 stop gained 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs143926538 9q34.13 9 132988251C> T null S L 98 98 0.0002 missense 0.891 possibly damaging 0.11 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs142654869 9q34.13 9 132988257C> A null P Q 100 100 missense 0.945 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs142654869 9q34.13 9 132988257C> G null P R 100 100 missense 0.927 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs771980295 9q34.13 9 132988256C> A null P T 100 100 missense 0.16 benign 0.17 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1205060414 9q34.13 9 132988265A> C null K Q 103 103 missense 1.0 probably damaging 0.07 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs372809223 9q34.13 9 132988268C> G null P A 104 104 missense 0.999 probably damaging 0.1 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1588440021 9q34.13 9 132988271A> G null S G 105 105 missense 0.693 possibly damaging 0.14 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs759097390 9q34.13 9 132988272G> C null S T 105 105 missense 0.121 benign 0.11 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1481562524 9q34.13 9 132988283G> T null D Y 109 109 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1588440053 9q34.13 9 132988286A> C null T P 110 110 missense 0.394 benign 0.28 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed rs763603738 9q34.13 9 132988289T> G null L V 111 111 missense 0.999 probably damaging 0.12 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1168624885 9q34.13 9 132988293C> A null A D 112 112 missense 0.927 probably damaging 0.12 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs764644794 9q34.13 9 132988296C> T null T I 113 113 missense 0.038 benign 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1047946772 9q34.13 9 132988299C> T null T I 114 114 missense 0.161 benign 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1047946772 9q34.13 9 132988299C> G null T S 114 114 missense 0.0 benign 1.0 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1204188537 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 9q34.13 9 132988304G> A null G S 116 116 missense 0.011 benign 0.4 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1479272040 9q34.13 9 132988315C> A null Y * 119 119 stop gained 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs533662277 9q34.13 9 132988316C> G null R G 120 120 0.0002 missense 0.005 benign 0.23 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1304184399 9q34.13 9 132988317G> A null R Q 120 120 missense 0.005 benign 0.32 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs533662277 9q34.13 9 132988316C> T null R W 120 120 0.0002 missense 0.663 possibly damaging 0.05 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs750711297 9q34.13 9 132988319C> T null Q * 121 121 stop gained 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs77329269 9q34.13 9 132988323C> G null A G 122 122 missense 0.015 benign 0.37 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs77329269 9q34.13 9 132988323C> T null A V 122 122 missense 0.341 benign 0.51 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1317829813 9q34.13 9 132988325C> T null P S 123 123 missense 0.686 possibly damaging 0.37 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1317829813 9q34.13 9 132988325C> A null P T 123 123 missense 0.783 possibly damaging 0.23 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs778821265 cosmic curated [Cosmic]: urinary_tract cosmic_study:581 9q34.13 9 132988328T> C null S P 124 124 missense 0.159 benign 0.08 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs758366716 9q34.13 9 132988331A> C null T P 125 125 missense 0.937 probably damaging 0.1 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1274965157 9q34.13 9 132988334A> G null M V 126 126 missense 0.007 benign 0.14 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1357251258 9q34.13 9 132988343G> A null A T 129 129 missense 0.89 possibly damaging 0.14 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1396268669 9q34.13 9 132988347T> G null F C 130 130 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC rs770534417 9q34.13 9 132988350T> C null L P 131 131 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC rs776000235 9q34.13 9 132988356A> C null H P 133 133 missense 0.265 benign 0.1 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs775944163 9q34.13 9 132988362T> C null V A 135 135 missense 0.997 probably damaging 0.21 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs372949898 9q34.13 9 132988361G> T null V F 135 135 missense 1.0 probably damaging 0.13 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs372949898 9q34.13 9 132988361G> A null V I 135 135 missense 0.997 probably damaging 0.13 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1475760647 9q34.13 9 132988367C> A null L M 137 137 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140090505 9q34.13 9 132988373G> T null G C 139 139 0.000399 missense 1.0 probably damaging 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140090505 9q34.13 9 132988373G> C null G R 139 139 0.000399 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140090505 9q34.13 9 132988373G> A null G S 139 139 0.000399 missense 1.0 probably damaging 0.14 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1049709369 9q34.13 9 132988376A> T null S C 140 140 missense 0.952 probably damaging 0.04 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs767699735 9q34.13 9 132988379C> T null P S 141 141 missense 1.0 probably damaging 0.2 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs750451502 9q34.13 9 132988385G> A null V M 143 143 missense 0.248 benign 0.19 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs756385747 9q34.13 9 132988391A> G null S G 145 145 missense 0.03 benign 0.17 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1418256970 9q34.13 9 132988395C> A null T N 146 146 missense 0.255 benign 0.2 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1315739296 9q34.13 9 132988401C> T null P L 148 148 missense 0.894 possibly damaging 0.08 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1430790946 9q34.13 9 132988403G> A null A T 149 149 missense 0.087 benign 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs368905369 9q34.13 9 132988413T> A null F Y 152 152 missense 0.012 benign 0.59 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs150284911 9q34.13 9 132988418C> G null L V 154 154 missense 0.073 benign 0.21 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78837507 9q34.13 9 132988421C> T null R C 155 155 0.000599 missense 0.742 possibly damaging 0.04 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs560461496 9q34.13 9 132988422G> A null R H 155 155 0.0002 missense 0.005 benign 0.69 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs560461496 9q34.13 9 132988422G> T null R L 155 155 0.0002 missense 0.278 benign 0.21 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78837507 9q34.13 9 132988421C> A null R S 155 155 0.000599 missense 0.014 benign 0.31 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs745314098 9q34.13 9 132988427T> C null S P 157 157 missense 0.185 benign 0.1 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs951366034 9q34.13 9 132988430C> G null P A 158 158 missense 0.999 probably damaging 0.08 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs951366034 9q34.13 9 132988430C> T null P S 158 158 missense 0.999 probably damaging 0.13 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1414620986 9q34.13 9 132988434G> A null G D 159 159 missense 0.783 possibly damaging 0.29 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1588440461 9q34.13 9 132988433G> A null G S 159 159 missense 0.168 benign 0.35 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1376447537 9q34.13 9 132988436A> G null M V 160 160 missense 0.007 benign 0.32 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs769515561 9q34.13 9 132988443C> T null A V 162 162 missense 0.007 benign 0.15 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs779785796 9q34.13 9 132988449A> G null H R 164 164 missense 0.015 benign 0.11 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1241436394 9q34.13 9 132988452G> A null C Y 165 165 missense 0.945 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs754085243 9q34.13 9 132988457A> G null K E 167 167 missense 0.197 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs754085243 9q34.13 9 132988457A> C null K Q 167 167 missense 0.046 benign 0.08 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1184678414 9q34.13 9 132988458A> G null K R 167 167 missense 0.018 benign 0.09 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs527297896 9q34.13 9 132988461G> T null C F 168 168 0.000998 missense 0.913 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1468878225 9q34.13 9 132988467A> T null K M 170 170 missense 0.979 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1468878225 9q34.13 9 132988467A> G null K R 170 170 missense 0.792 possibly damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1027855830 9q34.13 9 132989062T> C null V A 171 171 missense 0.997 probably damaging 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142421593 9q34.13 9 132989061G> T null V F 171 171 0.000399 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142421593 9q34.13 9 132989061G> A null V I 171 171 0.000399 missense 0.997 probably damaging 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1195749893 cosmic curated [Cosmic]: large_intestine cosmic_study:375 9q34.13 9 132989064T> C null F L 172 172 missense 0.995 probably damaging 0.04 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs762304847 9q34.13 9 132989070A> G null T A 174 174 missense 0.628 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs376762177 9q34.13 9 132989071C> T null T I 174 174 missense 0.16 benign 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,dbSNP,gnomAD rs376762177 9q34.13 9 132989071C> A null T N 174 174 missense 0.959 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,gnomAD rs146007027 9q34.13 9 132989074C> A null P H 175 175 0.0002 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,gnomAD rs146007027 9q34.13 9 132989074C> T null P L 175 175 0.0002 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs138653823 9q34.13 9 132989078C> G null H Q 176 176 missense 0.924 probably damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs138653823 9q34.13 9 132989078C> A null H Q 176 176 missense 0.924 probably damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1005136553 9q34.13 9 132989079G> A null G R 177 177 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1345110952 9q34.13 9 132989085G> A null E K 179 179 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1405838680 9q34.13 9 132989088G> T null V L 180 180 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs973515605 9q34.13 9 132989092A> T null H L 181 181 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs973515605 9q34.13 9 132989092A> G null H R 181 181 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1397252914 9q34.13 9 132989095T> G null V G 182 182 missense 0.575 possibly damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs778195914 9q34.13 9 132989097C> T null R * 183 183 stop gained 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148728985 cosmic curated [Cosmic]: lung cosmic_study:417 9q34.13 9 132989098G> A null R Q 183 183 0.0002 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs771408008 9q34.13 9 132989100C> T null R C 184 184 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs771408008 9q34.13 9 132989100C> G null R G 184 184 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs570058270 9q34.13 9 132989101G> A null R H 184 184 0.000599 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs748303990 9q34.13 9 132989107A> G null H R 186 186 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1269061411 9q34.13 9 132989109A> G null S G 187 187 missense 0.998 probably damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1181677415 9q34.13 9 132989116C> T null T I 189 189 missense 0.877 possibly damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs192854759 9q34.13 9 132989119G> A null R Q 190 190 0.0002 missense 0.863 possibly damaging 0.04 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs144046935 [ClinVar]: Platelet-type bleeding disorder 17 9q34.13 9 132989118C> T null R W 190 190 0.000399 missense 0.996 probably damaging 0.0 deleterious 0 Platelet-type bleeding disorder 17 (BDPLT17) MIM:187900 ClinVar:RCV000477857 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs766382842 9q34.13 9 132989127G> A null A T 193 193 missense 0.999 probably damaging 0.04 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1364664092 9q34.13 9 132989130T> C null C R 194 194 missense 0.952 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed rs753406078 9q34.13 9 132989131G> A null C Y 194 194 missense 0.967 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs754483976 9q34.13 9 132989136A> T null I F 196 196 missense 0.323 benign 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs754483976 9q34.13 9 132989136A> G null I V 196 196 missense 0.001 benign 1.0 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,gnomAD rs146440020 9q34.13 9 132989143G> A null G D 198 198 0.0002 missense 1.0 probably damaging 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs370269669 9q34.13 9 132989142G> C null G R 198 198 0.000998 missense 1.0 probably damaging 0.14 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs370269669 9q34.13 9 132989142G> A null G S 198 198 0.000998 missense 1.0 probably damaging 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1367971464 9q34.13 9 132989149C> A null T N 200 200 missense 0.956 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145418687 9q34.13 9 132989153C> A null F L 201 201 0.0002 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs781610790 9q34.13 9 132989154G> T null G C 202 202 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs781610790 9q34.13 9 132989154G> C null G R 202 202 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs781610790 9q34.13 9 132989154G> A null G S 202 202 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs147726410 9q34.13 9 132989159C> G null H Q 203 203 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs62638686 9q34.13 9 132989160G> T null A S 204 204 0.01498 missense 0.146 benign 0.24 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs62638686 9q34.13 9 132989160G> A null A T 204 204 0.01498 missense 0.053 benign 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs768898305 9q34.13 9 132989164T> C null V A 205 205 missense 0.999 probably damaging 0.05 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1450806158 9q34.13 9 132989175C> A null Q K 209 209 missense 0.997 probably damaging 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs776772049 9q34.13 9 132989182C> T null T M 211 211 missense 0.873 possibly damaging 0.18 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1383225691 9q34.13 9 132989181A> T null T S 211 211 missense 0.047 benign 0.42 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145867669 9q34.13 9 132989187G> A null V I 213 213 0.000399 missense 0.026 benign 0.36 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs763764108 9q34.13 9 132989192C> A null H Q 214 214 missense 0.956 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148996720 9q34.13 9 132989190C> T null H Y 214 214 0.000599 missense 0.908 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,TOPMed,gnomAD rs373796028 9q34.13 9 132989198G> C null Q H 216 216 missense 0.997 probably damaging 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,TOPMed rs578136625 9q34.13 9 132989683C> T null P L 219 219 0.0002 missense 0.006 benign 0.03 deleterious - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs900680337 9q34.13 9 132989685G> A null A T 220 220 missense 0.01 benign 0.08 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,TOPMed,gnomAD rs545245507 9q34.13 9 132989688G> A null G R 221 221 0.000399 missense 0.017 benign 0.03 deleterious - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,gnomAD rs367558713 9q34.13 9 132989702G> C null E D 225 225 missense 0.014 benign 0.04 deleterious - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1407468572 9q34.13 9 132989700G> C null E Q 225 225 missense 0.027 benign 0.03 deleterious - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1588442465 9q34.13 9 132989707C> A null A E 227 227 missense 0.006 benign 0.04 deleterious - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1392363464 9q34.13 9 132989709C> G null P A 228 228 missense 0.997 probably damaging 0.27 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs767905800 9q34.13 9 132989716C> T null P L 230 230 missense 0.999 probably damaging 0.59 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs761450242 9q34.13 9 132989715C> T null P S 230 230 missense 0.998 probably damaging 0.16 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,dbSNP,gnomAD rs761044764 cosmic curated [Cosmic]: large_intestine, [UniProt]: a colorectal cancer sample; somatic mutation pubmed:16959974 pubmed:16959974 9q34.13 9 132989785G> A null R H 231 231 missense 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs771432303 9q34.13 9 132989719C> T null P L 231 231 missense 0.062 benign 0.05 deleterious - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs771432303 9q34.13 9 132989719C> G null P R 231 231 missense 0.677 possibly damaging 0.07 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs750759802 9q34.13 9 132989718C> T null P S 231 231 missense 0.238 benign 0.17 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs755145823 9q34.13 9 132989721G> C null G R 232 232 missense 0.042 benign 0.13 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs755145823 9q34.13 9 132989721G> A null G R 232 232 missense 0.042 benign 0.13 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs748424899 9q34.13 9 132989725C> T null P L 233 233 missense 0.209 benign 0.66 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1264388246 9q34.13 9 132989728A> G null H R 234 234 missense 0.0 benign 0.67 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs952773206 9q34.13 9 132989730T> C null F L 235 235 missense 0.979 probably damaging 0.43 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs769624853 9q34.13 9 132989737G> T null R L 237 237 missense 0.99 probably damaging 0.08 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs769624853 9q34.13 9 132989737G> C null R P 237 237 missense 0.996 probably damaging 0.07 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs769624853 9q34.13 9 132989737G> A null R Q 237 237 missense 0.99 probably damaging 0.2 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs759704658 9q34.13 9 132989736C> T null R W 237 237 missense 0.997 probably damaging 0.01 deleterious - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1430002750 9q34.13 9 132989742G> A null E K 239 239 missense 0.755 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1016682120 9q34.13 9 132989745C> T null R C 240 240 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC rs762784268 9q34.13 9 132989746G> A null R H 240 240 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1016682120 9q34.13 9 132989745C> A null R S 240 240 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs374075090 9q34.13 9 132989753C> G null F L 242 242 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,gnomAD rs142322678 9q34.13 9 132989754G> A null E K 243 243 0.0002 missense 0.508 possibly damaging 0.09 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,TOPMed rs371395428 9q34.13 9 132989757T> C null C R 244 244 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1462798363 9q34.13 9 132989760C> T null R C 245 245 missense 0.91 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs367947845 9q34.13 9 132989761G> A null R H 245 245 missense 0.832 possibly damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs367947845 9q34.13 9 132989761G> T null R L 245 245 missense 0.573 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs767105897 9q34.13 9 132989763A> C null M L 246 246 missense 0.988 probably damaging 0.05 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs371084332 9q34.13 9 132989769G> A null G S 248 248 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1367615343 9q34.13 9 132989775G> C null A P 250 250 missense 0.945 probably damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs201349915 9q34.13 9 132989784C> T null R C 253 253 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs754439744 9q34.13 9 132989788C> T null S L 254 254 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs754439744 9q34.13 9 132989788C> G null S W 254 254 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1554724654 9q34.13 9 132989794C> T null T M 256 256 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs752776987 9q34.13 9 132989802A> C null T P 259 259 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs752776987 9q34.13 9 132989802A> T null T S 259 259 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs986660744 9q34.13 9 132989807C> G null H Q 260 260 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs758726712 9q34.13 9 132989808C> G null L V 261 261 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a dbSNP rs1564180346 [ClinVar]: Storage pool disease of platelets 9q34.13 9 132989817de l null H null 264 264 frameshift 0 Storage pool disease of platelets MIM:185050 ClinVar:RCV000710041 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1196364560 9q34.13 9 132989827C> T null T M 267 267 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1201544876 9q34.13 9 132989830G> A null R Q 268 268 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs745670434 9q34.13 9 132989829C> T null R W 268 268 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs910795219 9q34.13 9 132989833C> T null P L 269 269 missense 0.987 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1170867202 9q34.13 9 132989836A> C null Y S 270 270 missense 0.972 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1364041454 9q34.13 9 132989842G> A null C Y 272 272 missense 0.986 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1302101616 9q34.13 9 132989845A> G null Q R 273 273 missense 0.932 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs944694471 9q34.13 9 132989848T> A null F Y 274 274 missense 0.024 benign 1.0 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs749288375 9q34.13 9 132989854G> A null G D 276 276 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs765446969 9q34.13 9 132989853G> A null G S 276 276 missense 0.981 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs768451177 9q34.13 9 132989859C> T null R C 278 278 missense 0.999 probably damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs773869692 9q34.13 9 132989860G> A null R H 278 278 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1299732331 9q34.13 9 132989865C> A null H N 280 280 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs866282944 9q34.13 9 132989875C> T null S F 283 283 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl,dbSNP rs1554724691 cosmic curated [ClinVar]: Inborn genetic diseases, [Cosmic]: endometrium cosmic_study:419 9q34.13 9 132989877G> A null D N 284 284 missense 0.999 probably damaging 0.08 tolerated 1 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25560141,pubmed:25626707,pubmed:25730230,ClinVar:RCV000622939 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl,dbSNP rs1554724694 [ClinVar]: Platelet-type bleeding disorder 17 pubmed:28041820 9q34.13 9 132989886A> T null K * 287 287 stop gained 0 Platelet-type bleeding disorder 17 (BDPLT17) MIM:187900 ClinVar:RCV000505272 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1053415693 9q34.13 9 132989893C> T null T I 289 289 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC rs766810669 9q34.13 9 132989899T> C null I T 291 291 missense 0.918 probably damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,gnomAD rs543334869 9q34.13 9 132989898A> G null I V 291 291 0.0002 missense 0.175 benign 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1465414678 9q34.13 9 132989904A> T null T S 293 293 missense 0.805 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs759753475 9q34.13 9 132990878A> G null K R 296 296 missense 0.812 possibly damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs543214484 9q34.13 9 132990881C> T null P L 297 297 0.0002 missense 0.353 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs763548823 9q34.13 9 132990892C> A null Q K 301 301 missense 0.135 benign 0.04 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1166124418 9q34.13 9 132990895G> C null V L 302 302 missense 0.248 benign 0.11 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs753669252 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 9q34.13 9 132990902G> A null G E 304 304 missense 0.856 possibly damaging 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs762113108 cosmic curated [Cosmic]: central_nervous_system cosmic_study:329 9q34.13 9 132990901G> A null G R 304 304 missense 0.249 benign 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs762113108 cosmic curated [Cosmic]: central_nervous_system cosmic_study:329 9q34.13 9 132990901G> C null G R 304 304 missense 0.249 benign 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs753669252 9q34.13 9 132990902G> T null G V 304 304 missense 0.945 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1439794611 9q34.13 9 132990904A> C null K Q 305 305 missense 0.662 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1279137850 9q34.13 9 132990907G> T null A S 306 306 missense 0.615 possibly damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1197266637 9q34.13 9 132990914G> A null S N 308 308 missense 0.041 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl,dbSNP rs587777211 [ClinVar]: Platelet-type bleeding disorder 17 pubmed:5681484 9q34.13 9 132990916C> T null Q * 309 309 stop gained 0 Platelet-type bleeding disorder 17 (BDPLT17) MIM:187900 ClinVar:RCV000088664 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1041169993 9q34.13 9 132990918G> C null Q H 309 309 missense 0.789 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1230296068 9q34.13 9 132990920G> A null S N 310 310 missense 0.856 possibly damaging 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1375064224 9q34.13 9 132990928C> T null L F 313 313 missense 0.972 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs74332772 9q34.13 9 132990934A> C null T P 315 315 missense 0.113 benign 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a dbSNP rs397989794 [ClinVar]: Platelet-type bleeding disorder 17 pubmed:1065298,pubmed:23927492 9q34.13 9 132990937du p null H null 316 316 frameshift 0 Platelet-type bleeding disorder 17 (BDPLT17) MIM:187900 ClinVar:RCV000088665 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1225851256 9q34.13 9 132990940A> G null S G 317 317 missense 0.024 benign 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs990886827 9q34.13 9 132990943C> T null R C 318 318 missense 0.979 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs537470322 9q34.13 9 132990944G> A null R H 318 318 missense 0.979 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs537470322 9q34.13 9 132990944G> T null R L 318 318 missense 0.114 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs770622297 9q34.13 9 132990947A> T null K M 319 319 missense 0.955 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs770622297 9q34.13 9 132990947A> G null K R 319 319 missense 0.929 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1309426757 9q34.13 9 132990956G> A null G D 322 322 missense 0.398 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1426521584 9q34.13 9 132990967T> G null F V 326 326 missense 0.823 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1390492908 9q34.13 9 132990974G> A null C Y 328 328 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,dbSNP,gnomAD rs775963992 [ClinVar]: Platelet-type bleeding disorder 17 pubmed:28041820 9q34.13 9 132990980T> C null L P 330 330 missense 0.986 probably damaging 0.0 deleterious 0 Platelet-type bleeding disorder 17 (BDPLT17) MIM:187900 ClinVar:RCV000505268 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs775963992 9q34.13 9 132990980T> A null L Q 330 330 missense 0.986 probably damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs769236543 9q34.13 9 132990986C> G null T S 332 332 missense 0.007 benign 0.38 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1307228755 9q34.13 9 132990991G> A null G S 334 334 missense 0.975 probably damaging 0.09 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs774517040 cosmic curated [Cosmic]: central_nervous_system pubmed:22722829,cosmic_study:401 9q34.13 9 132991000C> T null R C 337 337 missense 0.979 probably damaging 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs761729738 cosmic curated [Cosmic]: urinary_tract, [Cosmic]: large_intestine pubmed:22810696,cosmic_study:376,cosmic_study:413 9q34.13 9 132991001G> A null R H 337 337 missense 0.969 probably damaging 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs955174616 9q34.13 9 132991009G> C null D H 340 340 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs760858233 9q34.13 9 132991016G> A null R Q 342 342 missense 0.891 possibly damaging 0.04 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs750680851 9q34.13 9 132991015C> T null R W 342 342 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369095339 9q34.13 9 132991019G> T null R L 343 343 missense 0.922 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369095339 9q34.13 9 132991019G> A null R Q 343 343 missense 0.891 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs765068455 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine cosmic_study:376,cosmic_study:419 9q34.13 9 132991018C> T null R W 343 343 missense 0.99 probably damaging 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs751095810 9q34.13 9 132991023C> G null H Q 344 344 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs777505501 9q34.13 9 132991021C> T null H Y 344 344 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs756778026 cosmic curated [Cosmic]: lung cosmic_study:418 9q34.13 9 132991024C> T null R C 345 345 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373040348 9q34.13 9 132991025G> A null R H 345 345 0.0002 missense 0.999 probably damaging 0.23 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373040348 9q34.13 9 132991025G> T null R L 345 345 0.0002 missense 0.999 probably damaging 0.12 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1281439058 9q34.13 9 132991030A> G null S G 347 347 missense 0.579 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1231376875 9q34.13 9 132991031G> A null S N 347 347 missense 0.575 possibly damaging 0.04 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1474417793 9q34.13 9 132991047G> C null K N 352 352 missense 0.072 benign 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs749626626 9q34.13 9 132991049G> T null * L 353 353 stop lost 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs769206886 9q34.13 9 132991050A> G null * W 353 353 stop lost 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs760638546 7p15.2 7 26197448G> A null P L 4 4 missense 0.21 benign 0.04 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed rs1215020028 7p15.2 7 26197449G> A null P S 4 4 missense 0.847 possibly damaging 0.06 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d 1000Genomes,ExAC,gnomAD rs531662999 7p15.2 7 26197419A> G null F L 14 14 0.0002 missense 0.373 benign 0.05 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs761511106 7p15.2 7 26197415A> T null V E 15 15 missense 0.974 probably damaging 0.0 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d 1000Genomes,ExAC,gnomAD rs562669302 7p15.2 7 26197413T> G null T P 16 16 0.0002 missense 0.986 probably damaging 0.04 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ESP,ExAC,TOPMed,gnomAD rs367619498 7p15.2 7 26197385G> C null A G 25 25 missense 0.066 benign 0.03 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs746426875 7p15.2 7 26197386C> T null A T 25 25 missense 0.127 benign 0.01 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ESP,ExAC,TOPMed,gnomAD rs367619498 7p15.2 7 26197385G> A null A V 25 25 missense 0.251 benign 0.01 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs757696101 7p15.2 7 26197383C> A null A S 26 26 missense 0.735 possibly damaging 0.01 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d Ensembl rs1583995662 7p15.2 7 26197376G> A null A V 28 28 missense 0.952 probably damaging 0.17 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed rs1454741686 7p15.2 7 26197374C> A null A S 29 29 missense 0.95 probably damaging 0.03 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1303438607 7p15.2 7 26197359T> C null I V 34 34 missense 0.323 benign 1.0 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d 1000Genomes,ExAC,TOPMed,gnomAD rs542884101 7p15.2 7 26197341C> A null E * 40 40 0.0002 stop gained 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d 1000Genomes,ExAC,TOPMed,gnomAD rs542884101 7p15.2 7 26197341C> T null E K 40 40 0.0002 missense 0.709 possibly damaging 0.01 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1383013389 7p15.2 7 26196995T> A null H L 56 56 missense 0.0 benign 0.2 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs759627147 7p15.2 7 26196982C> A null K N 60 60 missense 0.979 probably damaging 0.01 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1442666925 7p15.2 7 26196960T> C null K E 68 68 missense 0.286 benign 0.03 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1259158366 7p15.2 7 26196947T> C null E G 72 72 missense 0.73 possibly damaging 0.01 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed rs1165925087 cosmic curated [Cosmic]: breast cosmic_study:414 7p15.2 7 26196948C> G null E Q 72 72 missense 0.55 possibly damaging 0.03 deleterious 1 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d Ensembl rs1583992508 7p15.2 7 26196931T> A null R S 77 77 missense 0.985 probably damaging 0.01 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed,gnomAD rs951126354 7p15.2 7 26196930C> G null D H 78 78 missense 0.866 possibly damaging 0.01 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs774818443 7p15.2 7 26196902T> C null D G 87 87 missense 0.731 possibly damaging 0.0 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed,gnomAD rs995116237 7p15.2 7 26196899G> C null T S 88 88 missense 0.048 benign 0.08 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs769596479 7p15.2 7 26196891T> A null I L 91 91 missense 0.928 probably damaging 0.02 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d Ensembl rs1269990131 7p15.2 7 26196875T> A null Q L 96 96 missense 0.816 possibly damaging 0.04 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,TOPMed,gnomAD rs776320357 7p15.2 7 26196865C> G null K N 99 99 missense 0.826 possibly damaging 0.01 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs778726413 7p15.2 7 26196810C> T null V I 118 118 missense 0.306 benign 0.02 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs778726413 7p15.2 7 26196810C> A null V L 118 118 missense 0.321 benign 0.02 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs750133179 7p15.2 7 26196654C> A null Q H 120 120 missense 0.981 probably damaging 0.0 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1353165662 7p15.2 7 26196629T> C null N D 129 129 missense 0.199 benign 0.02 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1292553671 7p15.2 7 26196623C> T null E K 131 131 missense 0.549 possibly damaging 0.03 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs775261393 7p15.2 7 26196585T> G null E D 143 143 missense 0.01 benign 0.06 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,TOPMed,gnomAD rs769781748 7p15.2 7 26196577C> A null S I 146 146 missense 0.066 benign 0.02 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d Ensembl rs1583990416 7p15.2 7 26196574G> C null S C 147 147 missense 0.175 benign 0.0 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1367161528 7p15.2 7 26196559C> T null G E 152 152 missense 0.403 benign 0.1 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs748117918 7p15.2 7 26196477G> C null N K 154 154 missense 0.727 possibly damaging 0.15 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,TOPMed,gnomAD rs772251120 7p15.2 7 26196478T> C null N S 154 154 missense 0.636 possibly damaging 0.66 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,TOPMed,gnomAD rs772251120 7p15.2 7 26196478T> G null N T 154 154 missense 0.727 possibly damaging 0.03 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d Ensembl rs950661653 7p15.2 7 26196473C> T null G S 156 156 missense 0.001 benign 0.12 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs779397218 7p15.2 7 26196466C> G null G A 158 158 missense 0.91 probably damaging 0.04 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1480889342 7p15.2 7 26196458G> A null R C 161 161 missense 0.116 benign 0.19 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,TOPMed,gnomAD rs755438446 7p15.2 7 26196457C> T null R H 161 161 missense 0.0 benign 0.58 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs749677236 7p15.2 7 26196451C> G null G A 163 163 missense 0.067 benign 0.19 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ESP,ExAC,TOPMed,gnomAD rs200929422 7p15.2 7 26196449C> T null G S 164 164 missense 0.426 benign 0.46 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs763643279 7p15.2 7 26196443T> G null N H 166 166 missense 0.383 benign 0.01 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1376121173 7p15.2 7 26196440A> T null F I 167 167 missense 0.95 probably damaging 0.06 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1465378761 7p15.2 7 26196434G> C null P A 169 169 missense 0.011 benign 0.67 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d Ensembl rs1554333695 7p15.2 7 26196430C> A null G V 170 170 missense 0.998 probably damaging 0.07 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1407283972 7p15.2 7 26196427G> T null P Q 171 171 missense 0.243 benign 0.51 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs765284268 7p15.2 7 26196424C> G null G A 172 172 missense 0.195 benign 0.01 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs765284268 7p15.2 7 26196424C> T null G E 172 172 missense 0.018 benign 0.02 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC rs759591567 7p15.2 7 26196422T> C null S G 173 173 missense 0.0 benign 1.0 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1377160953 7p15.2 7 26196421C> T null S N 173 173 missense 0.0 benign 0.66 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117082250 7p15.2 7 26196414A> C null F L 175 175 0.002596 missense 0.045 benign 0.04 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1419601428 7p15.2 7 26196406C> T null G E 178 178 missense 0.141 benign 0.24 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d Ensembl rs1562713136 7p15.2 7 26196407C> T null G R 178 178 missense 0.189 benign 0.43 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1193509264 7p15.2 7 26195903T> C null Y C 182 182 missense 0.926 probably damaging 0.04 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed rs1408443734 7p15.2 7 26195901C> A null G C 183 183 missense 0.979 probably damaging 0.1 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs761653754 7p15.2 7 26195896A> C null S R 184 184 missense 0.0 benign 0.52 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed,gnomAD rs1490659113 7p15.2 7 26195891C> T null R H 186 186 missense 0.051 benign 0.58 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1208573631 7p15.2 7 26195886A> G null F L 188 188 missense 0.027 benign 0.4 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,TOPMed,gnomAD rs775496049 7p15.2 7 26195873T> C null Y C 192 192 missense 0.669 possibly damaging 0.17 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ESP,ExAC,TOPMed,gnomAD rs150779330 7p15.2 7 26195874A> G null Y H 192 192 missense 0.601 possibly damaging 0.47 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs769890583 7p15.2 7 26195871T> C null N D 193 193 missense 0.05 benign 0.65 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs747313003 7p15.2 7 26195864T> C null Y C 195 195 missense 0.926 probably damaging 0.03 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d Ensembl rs1583985769 7p15.2 7 26195865A> C null Y D 195 195 missense 0.902 possibly damaging 0.02 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs747313003 7p15.2 7 26195864T> A null Y F 195 195 missense 0.636 possibly damaging 0.19 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed,gnomAD rs1182485259 7p15.2 7 26195853G> A null P S 199 199 missense 0.005 benign 0.53 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1438364196 7p15.2 7 26193694C> T null G D 201 201 missense 0.0 benign 0.35 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed,gnomAD rs1292889600 7p15.2 7 26193688T> C null N S 203 203 missense 0.003 benign 0.3 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs753907415 7p15.2 7 26193685A> G null F S 204 204 missense 0.122 benign 0.08 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ESP,ExAC,gnomAD rs368483139 7p15.2 7 26193673G> A null P L 208 208 missense 0.0 benign 0.17 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ESP,ExAC,TOPMed,gnomAD rs375157988 7p15.2 7 26193671C> T null G S 209 209 missense 0.01 benign 0.24 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d Ensembl rs1583970981 7p15.2 7 26193646T> C null Y C 217 217 missense 0.99 probably damaging 0.18 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d Ensembl rs1562701949 7p15.2 7 26193643C> A null G V 218 218 missense 0.998 probably damaging 0.04 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1200427033 7p15.2 7 26193641C> T null G S 219 219 missense 0.27 benign 0.76 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d 1000Genomes,ExAC,gnomAD rs533907485 7p15.2 7 26193634C> A null G V 221 221 0.0002 missense 0.988 probably damaging 0.37 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1434240961 7p15.2 7 26193631G> A null P L 222 222 missense 0.459 possibly damaging 0.21 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs745389971 7p15.2 7 26193625T> C null Y C 224 224 missense 0.439 benign 0.18 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed rs1331084801 7p15.2 7 26193622C> T null G D 225 225 missense 0.737 possibly damaging 0.08 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d Ensembl,dbSNP rs1554331125 [ClinVar]: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 7p15.2 7 26193619T> C null N S 226 226 missense 0.014 benign 0.12 tolerated 0 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 (IBMPFD2) Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset PDB, and premature frontotemporal dementia (FTD). MIM:615422 pubmed:20301649,ClinVar:RCV000546068 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1267219993 7p15.2 7 26193616T> C null Q R 227 227 missense 0.069 benign 0.53 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d Ensembl rs1583970759 7p15.2 7 26193610C> T null G E 229 229 missense 0.131 benign 0.34 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed,gnomAD rs997984275 7p15.2 7 26193607C> G null G A 230 230 missense 0.099 benign 0.03 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs770392533 7p15.2 7 26193601C> G null G A 232 232 missense 0.099 benign 0.5 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d 1000Genomes,ExAC,TOPMed,gnomAD rs577689101 7p15.2 7 26193599C> T null G S 233 233 0.0002 missense 0.62 possibly damaging 0.39 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1380157710 7p15.2 7 26193592T> A null Y F 235 235 missense 0.051 benign 0.13 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1418443872 7p15.2 7 26193593A> G null Y H 235 235 missense 0.0 benign 0.07 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed,gnomAD rs1425992652 7p15.2 7 26193588G> T null D E 236 236 missense 0.093 benign 0.15 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ESP,ExAC,TOPMed,gnomAD rs367958673 7p15.2 7 26193586T> C null N S 237 237 missense 0.011 benign 0.14 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1181544777 cosmic curated [Cosmic]: breast cosmic_study:414 7p15.2 7 26193583T> C null Y C 238 238 missense 0.339 benign 0.15 tolerated 1 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed rs1011873350 7p15.2 7 26193577C> T null G E 240 240 missense 0.286 benign 0.07 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed rs1305867367 7p15.2 7 26193367T> C null Y C 243 243 missense 0.57 possibly damaging 0.22 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs751974576 7p15.2 7 26193355T> C null N S 247 247 missense 0.003 benign 0.84 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed,gnomAD rs911715553 7p15.2 7 26193349T> C null N S 249 249 missense 0.935 probably damaging 0.24 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed rs985334692 7p15.2 7 26193347C> T null D N 250 250 missense 0.026 benign 0.07 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed rs1334129003 7p15.2 7 26193338T> G null N H 253 253 missense 0.044 benign 0.03 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,TOPMed,gnomAD rs763226168 7p15.2 7 26193337T> C null N S 253 253 missense 0.482 possibly damaging 0.19 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1234707634 7p15.2 7 26193323G> A null P S 258 258 missense 0.0 benign 1.0 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed rs1479774677 7p15.2 7 26193320A> G null S P 259 259 missense 0.969 probably damaging 0.0 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1301266606 7p15.2 7 26193316T> C null N S 260 260 missense 0.003 benign 0.16 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d Ensembl rs573171238 7p15.2 7 26193313T> A null Y F 261 261 missense 0.015 benign 1.0 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d Ensembl rs868527511 7p15.2 7 26193307G> A null P L 263 263 missense 0.202 benign 0.27 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1329668867 7p15.2 7 26193303C> T null M I 264 264 missense 0.047 benign 0.03 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs761859961 7p15.2 7 26193299T> C null S G 266 266 missense 0.0 benign 1.0 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d Ensembl rs553244716 7p15.2 7 26193290A> T null F I 269 269 missense 0.95 probably damaging 0.0 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed rs1417734292 7p15.2 7 26193287C> T null G S 270 270 missense 0.997 probably damaging 0.18 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed,gnomAD rs1321052921 7p15.2 7 26193277C> T null R K 273 273 missense 0.157 benign 0.01 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ESP,ExAC,TOPMed,gnomAD rs372687249 7p15.2 7 26193272T> C null M V 275 275 missense 0.022 benign 1.0 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs770089393 7p15.2 7 26193259T> C null Y C 279 279 missense 0.99 probably damaging 0.01 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed,gnomAD rs1193919522 7p15.2 7 26192571T> C null Y C 284 284 missense 0.926 probably damaging 0.0 deleterious 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed,gnomAD rs1193919522 7p15.2 7 26192571T> A null Y F 284 284 missense 0.636 possibly damaging 0.09 tolerated 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1478557446 7p15.2 7 26192566G> C null P A 286 286 missense 0.811 possibly damaging 1.0 tolerated - low confidence 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed rs926215759 7p15.2 7 26192559C> G null G A 288 288 missense 0.022 benign 1.0 tolerated - low confidence 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,TOPMed,gnomAD rs764119920 7p15.2 7 26192555A> C null S R 289 289 missense 0.049 benign 0.04 deleterious - low confidence 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1452649323 7p15.2 7 26192553C> G null G A 290 290 missense 0.961 probably damaging 0.07 tolerated - low confidence 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs763021765 7p15.2 7 26192546A> C null S R 292 292 missense 0.164 benign 0.2 tolerated - low confidence 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed rs937847098 7p15.2 7 26192541C> G null G A 294 294 missense 0.961 probably damaging 0.01 deleterious - low confidence 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1259022514 7p15.2 7 26192542C> A null G C 294 294 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d TOPMed rs937847098 7p15.2 7 26192541C> A null G V 294 294 missense 0.988 probably damaging 0.0 deleterious - low confidence 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d Ensembl rs1583964329 7p15.2 7 26192537A> C null Y * 295 295 stop gained 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1338584509 7p15.2 7 26192538T> C null Y C 295 295 missense 0.953 probably damaging 0.0 deleterious - low confidence 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d gnomAD rs1338584509 7p15.2 7 26192538T> A null Y F 295 295 missense 0.739 possibly damaging 0.0 deleterious - low confidence 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs117917826 7p15.2 7 26192530T> C null R G 298 298 missense 0.788 possibly damaging 0.53 tolerated - low confidence 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d ExAC,gnomAD rs776928747 7p15.2 7 26192519G> T null Y * 301 301 stop gained 0 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d Ensembl,dbSNP rs397515326 [ClinVar]: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, [UniProt]: IBMPFD2 pubmed:23455423 pubmed:11891683,pubmed:23455423 7p15.2 7 26193346T> A null D V 302 302 missense 0 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 (IBMPFD2) Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset PDB, and premature frontotemporal dementia (FTD). MIM:615422 pubmed:20301649,ClinVar:RCV000055652 A0A024RA28 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1, isoform CRA_d Ensembl,dbSNP rs397515326 [ClinVar]: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, [UniProt]: IBMPFD2 pubmed:23455423 pubmed:11891683,pubmed:23455423 7p15.2 7 26193346T> A null D V 302 302 missense 0 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 (IBMPFD2) An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance. MIM:615422 pubmed:23455423 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,TOPMed,gnomAD rs764325302 7p14.1 7 42932155C> T null A T 2 2 missense 0.001 benign 0.09 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1250056473 7p14.1 7 42932154G> A null A V 2 2 missense 0.049 benign 0.02 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,TOPMed,gnomAD rs763261249 7p14.1 7 42932150C> G null E D 3 3 missense 0.0 benign 1.0 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs775798679 7p14.1 7 42932148C> T null R H 4 4 missense 0.601 possibly damaging 0.1 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type Ensembl rs1583611302 7p14.1 7 42932143A> C null Y D 6 6 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type TOPMed rs1243162760 7p14.1 7 42932140T> C null S G 7 7 missense 0.011 benign 0.16 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type 1000Genomes,ExAC,TOPMed,gnomAD rs531717051 7p14.1 7 42932138G> C null S R 7 7 0.0002 missense 0.858 possibly damaging 0.01 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type TOPMed,gnomAD rs1183520591 7p14.1 7 42932139C> G null S T 7 7 missense 0.028 benign 0.02 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs771543966 7p14.1 7 42932134A> G null S P 9 9 missense 0.986 probably damaging 0.02 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1338232845 7p14.1 7 42927412G> A null A V 30 30 missense 0.071 benign 0.11 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type Ensembl rs867277858 7p14.1 7 42927407C> T null G R 32 32 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs754184831 7p14.1 7 42927400G> A null P L 34 34 missense 0.208 benign 0.04 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1236350104 7p14.1 7 42927401G> A null P S 34 34 missense 0.239 benign 0.15 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ESP,ExAC,TOPMed,gnomAD rs138335219 7p14.1 7 42927395C> T null V M 36 36 missense 0.982 probably damaging 0.01 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1383205899 7p14.1 7 42926647G> A null A V 47 47 missense 0.791 possibly damaging 0.09 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type Ensembl rs13233636 7p14.1 7 42926645T> G null T P 48 48 missense 0.956 probably damaging 0.0 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs755134433 7p14.1 7 42926638T> C null K R 50 50 missense 0.484 possibly damaging 0.13 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs780277661 7p14.1 7 42926623A> C null I S 55 55 missense 0.013 benign 0.74 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs756552869 7p14.1 7 42926613A> T null D E 58 58 missense 0.039 benign 0.73 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs750906250 7p14.1 7 42926608C> T null R Q 60 60 missense 0.0 benign 0.37 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs768165675 7p14.1 7 42926604A> C null S R 61 61 missense 0.805 possibly damaging 0.0 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type TOPMed,gnomAD rs1448688040 7p14.1 7 42926600G> A null H Y 63 63 missense 0.103 benign 0.09 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1295405712 7p14.1 7 42926588G> C null P A 67 67 missense 0.0 benign 0.77 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs766018498 7p14.1 7 42926546G> A null P S 81 81 missense 1.0 probably damaging 0.01 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs766040241 7p14.1 7 42924795A> G null V A 85 85 missense 0.037 benign 0.12 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs866363627 7p14.1 7 42924793G> A null L F 86 86 missense 0.355 benign 0.0 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs866363627 7p14.1 7 42924793G> C null L V 86 86 missense 0.066 benign 0.06 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,TOPMed,gnomAD rs760422656 7p14.1 7 42924790C> A null V L 87 87 missense 0.025 benign 0.25 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1191527666 7p14.1 7 42924783C> T null R K 89 89 missense 0.0 benign 1.0 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ESP,ExAC,TOPMed,gnomAD rs151168516 7p14.1 7 42924777C> T null R Q 91 91 missense 0.7 possibly damaging 0.03 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs761735044 7p14.1 7 42924769C> A null A S 94 94 missense 0.756 possibly damaging 0.21 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,TOPMed,gnomAD rs200851330 7p14.1 7 42924761T> A null Q H 96 96 missense 0.431 benign 0.12 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs768563334 7p14.1 7 42924756T> C null Y C 98 98 missense 0.561 possibly damaging 0.15 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs749412007 7p14.1 7 42924754G> T null L I 99 99 missense 0.084 benign 0.26 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs749412007 7p14.1 7 42924754G> C null L V 99 99 missense 0.003 benign 0.33 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,TOPMed,gnomAD rs770113879 7p14.1 7 42924750A> G null V A 100 100 missense 0.001 benign 0.44 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs775538034 7p14.1 7 42924751C> A null V L 100 100 missense 0.0 benign 0.49 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,TOPMed,gnomAD rs746145368 7p14.1 7 42924744T> C null Q R 102 102 missense 0.003 benign 0.37 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1306897229 7p14.1 7 42924738G> T null P H 104 104 missense 0.031 benign 0.2 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1352216696 7p14.1 7 42924739G> T null P T 104 104 missense 0.015 benign 0.53 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs757758580 7p14.1 7 42924732G> C null P R 106 106 missense 0.885 possibly damaging 0.03 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs747406381 7p14.1 7 42924715G> C null Q E 112 112 missense 0.018 benign 0.04 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs778355024 7p14.1 7 42924703A> C null S A 116 116 missense 0.0 benign 0.62 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs754395581 7p14.1 7 42924694G> A null Q * 119 119 stop gained 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs753417947 7p14.1 7 42924690T> G null E A 120 120 missense 0.062 benign 0.06 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1232321625 7p14.1 7 42924678G> A null S L 124 124 missense 0.559 possibly damaging 0.04 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ESP,ExAC,TOPMed,gnomAD rs369475667 7p14.1 7 42923353C> T null R Q 143 143 missense 0.021 benign 0.36 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1307995394 7p14.1 7 42921899C> T null M I 163 163 missense 0.033 benign 1.0 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1380278255 7p14.1 7 42921894T> C null K R 165 165 missense 0.166 benign 0.08 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type TOPMed rs1342232218 7p14.1 7 42921889A> G null Y H 167 167 missense 0.007 benign 0.52 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ESP,ExAC,TOPMed,gnomAD rs371848172 7p14.1 7 42921886C> T null V M 168 168 missense 0.187 benign 0.12 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type Ensembl rs780028037 7p14.1 7 42921870A> G null F S 173 173 missense 0.412 benign 0.02 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs767865796 7p14.1 7 42917835T> G null R S 177 177 missense 0.962 probably damaging 0.0 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1342659642 7p14.1 7 42917833T> C null Y C 178 178 missense 0.996 probably damaging 0.01 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs774800823 7p14.1 7 42917831T> G null N H 179 179 missense 0.038 benign 0.13 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type Ensembl rs1562699552 7p14.1 7 42917830T> C null N S 179 179 missense 0.003 benign 0.56 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1337758770 7p14.1 7 42917828C> T null E K 180 180 missense 0.005 benign 0.08 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs531260552 7p14.1 7 42917823A> T null D E 181 181 missense 0.0 benign 0.23 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type Ensembl rs887011513 7p14.1 7 42917816G> C null L V 184 184 missense 0.487 possibly damaging 0.05 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs766500954 7p14.1 7 42917797G> A null T I 190 190 missense 0.971 probably damaging 0.33 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs749845962 7p14.1 7 42917792T> C null I V 192 192 missense 0.322 benign 0.04 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1448563630 7p14.1 7 42917657T> C null I V 208 208 missense 0.031 benign 0.36 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1246001208 7p14.1 7 42917650A> C null V G 210 210 missense 0.976 probably damaging 0.0 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs771816510 7p14.1 7 42917645T> C null I V 212 212 missense 0.007 benign 0.74 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1335738344 7p14.1 7 42917638T> C null N S 214 214 missense 0.0 benign 0.63 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type TOPMed,gnomAD rs1226745466 7p14.1 7 42917615T> C null T A 222 222 missense 0.0 benign 0.12 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type 1000Genomes,ExAC,gnomAD rs201992093 7p14.1 7 42917611G> A null P L 223 223 0.0002 missense 0.308 benign 0.02 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,TOPMed,gnomAD rs778836202 7p14.1 7 42917609T> C null T A 224 224 missense 0.0 benign 0.63 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ESP,ExAC,TOPMed,gnomAD rs368515158 7p14.1 7 42917608G> A null T I 224 224 missense 0.027 benign 0.05 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type TOPMed rs1193815348 7p14.1 7 42917597C> G null D H 228 228 missense 0.933 probably damaging 0.0 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1363419253 7p14.1 7 42917588C> G null A P 231 231 missense 0.015 benign 0.11 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,TOPMed,gnomAD rs749182263 7p14.1 7 42917585C> A null A S 232 232 missense 0.001 benign 0.69 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1394851381 7p14.1 7 42917580T> C null I M 233 233 missense 0.424 benign 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1473673889 7p14.2 7 35832894G> A null V I 2 2 missense 0.181 benign 0.05 deleterious 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1192771815 7p14.2 7 35863557T> G null S A 6 6 missense 0.123 benign 0.02 deleterious 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1192771815 7p14.2 7 35863557T> A null S T 6 6 missense 0.568 possibly damaging 0.04 deleterious 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1463663878 7p14.2 7 35863573C> T null S L 11 11 missense 0.492 possibly damaging 0.02 deleterious 0 A0A024RA87 SEPTIN7 Septin Ensembl rs11538079 7p14.2 7 35863595C> A null F L 18 18 missense 0.277 benign 0.02 deleterious 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs771335352 7p14.2 7 35863594T> C null F S 18 18 missense 0.996 probably damaging 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs781724703 7p14.2 7 35863602G> A null D N 21 21 missense 0.939 probably damaging 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs770217624 7p14.2 7 35863612C> T null S F 24 24 missense 0.878 possibly damaging 0.01 deleterious 0 A0A024RA87 SEPTIN7 Septin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199739906 7p14.2 7 35863614C> T null P S 25 25 0.0002 missense 0.007 benign 0.1 tolerated 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1277088816 7p14.2 7 35863623C> G null P A 28 28 missense 0.844 possibly damaging 0.05 tolerated 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1274885676 7p14.2 7 35863626G> C null G R 29 29 missense 0.966 probably damaging 0.02 deleterious 0 A0A024RA87 SEPTIN7 Septin Ensembl rs781188337 7p14.2 7 35863653G> T null V L 38 38 missense 0.024 benign 0.08 tolerated 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1562558306 7p14.2 7 35863657A> G null Q R 39 39 missense 0.006 benign 0.13 tolerated 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1450561631 7p14.2 7 35872675T> G null S A 43 43 missense 0.303 benign 0.32 tolerated 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs749730840 7p14.2 7 35872679A> G null K R 44 44 missense 0.034 benign 0.23 tolerated 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1367066878 7p14.2 7 35872684T> G null L V 46 46 missense 0.038 benign 0.52 tolerated 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1194061662 7p14.2 7 35872688T> C null I T 47 47 missense 0.224 benign 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1459162293 7p14.2 7 35872700G> T null G V 51 51 missense 0.981 probably damaging 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs774639891 7p14.2 7 35872703T> G null V G 52 52 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs768999171 7p14.2 7 35872702G> A null V I 52 52 missense 0.669 possibly damaging 0.03 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1375285739 7p14.2 7 35872705C> G null Q E 53 53 missense 0.253 benign 0.07 tolerated 0 A0A024RA87 SEPTIN7 Septin gnomAD rs574634510 7p14.2 7 35872710G> T null L F 54 54 missense 1.0 probably damaging 0.02 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs574634510 7p14.2 7 35872710G> C null L F 54 54 missense 1.0 probably damaging 0.02 deleterious 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1172338843 7p14.2 7 35872717A> G null T A 57 57 missense 0.617 possibly damaging 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1389328836 7p14.2 7 35872720A> G null I V 58 58 missense 0.036 benign 1.0 tolerated 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1451763008 7p14.2 7 35872723G> A null V I 59 59 missense 0.308 benign 0.13 tolerated 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs761746094 7p14.2 7 35872730C> A null T N 61 61 missense 0.97 probably damaging 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1288193560 7p14.2 7 35872739T> C null F S 64 64 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1211962114 7p14.2 7 35872745A> G null D G 66 66 missense 0.99 probably damaging 0.01 deleterious 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1428910812 7p14.2 7 35873642T> G null W G 74 74 missense 0.366 benign 0.01 deleterious 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs765111999 7p14.2 7 35873656C> G null I M 78 78 missense 0.906 possibly damaging 0.03 deleterious 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs775189882 7p14.2 7 35873657G> A null D N 79 79 missense 0.025 benign 0.16 tolerated 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1466447754 7p14.2 7 35873661A> G null Y C 80 80 missense 0.979 probably damaging 0.01 deleterious 0 A0A024RA87 SEPTIN7 Septin Ensembl rs11538081 7p14.2 7 35873663A> G null I V 81 81 missense 0.203 benign 0.11 tolerated 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs762644796 7p14.2 7 35873669A> G null S G 83 83 missense 0.543 possibly damaging 0.04 deleterious 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1368442987 7p14.2 7 35873682A> T null D V 87 87 missense 0.521 possibly damaging 0.05 tolerated 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1583600284 7p14.2 7 35873702C> T null R * 94 94 stop gained 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs970771673 7p14.2 7 35873714C> T null R C 98 98 missense 0.015 benign 0.05 deleterious 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs763712762 7p14.2 7 35873723C> T null P S 101 101 missense 0.207 benign 0.45 tolerated 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs751077685 7p14.2 7 35873730A> G null N S 103 103 missense 0.005 benign 0.2 tolerated 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs754422485 7p14.2 7 35873742G> T null C F 107 107 missense 0.982 probably damaging 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs755357863 7p14.2 7 35873749A> T null L F 109 109 missense 0.965 probably damaging 0.14 tolerated 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs779310600 7p14.2 7 35873754T> C null F S 111 111 missense 1.0 probably damaging 0.02 deleterious 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1206919540 7p14.2 7 35873772A> G null H R 117 117 missense 0.999 probably damaging 0.01 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1236697143 7p14.2 7 35873771C> T null H Y 117 117 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1258876781 7p14.2 7 35873774G> A null G R 118 118 missense 0.979 probably damaging 0.03 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1450344508 7p14.2 7 35879830C> T null P S 121 121 missense 0.646 possibly damaging 0.04 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1189003360 7p14.2 7 35879839A> G null I V 124 124 missense 0.036 benign 0.54 tolerated 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1162938980 7p14.2 7 35879847T> G null F L 126 126 missense 0.184 benign 0.03 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1351743631 7p14.2 7 35879848A> G null M V 127 127 missense 0.625 possibly damaging 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs765728361 7p14.2 7 35879853G> C null K N 128 128 missense 0.952 probably damaging 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1319888049 7p14.2 7 35879854C> T null R C 129 129 missense 0.906 possibly damaging 0.01 deleterious 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs745712983 7p14.2 7 35879855G> A null R H 129 129 missense 0.037 benign 0.09 tolerated 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs778001627 7p14.2 7 35879864A> G null E G 132 132 missense 0.446 possibly damaging 0.08 tolerated 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs751809485 7p14.2 7 35879873A> G null N S 135 135 missense 0.987 probably damaging 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1182225778 7p14.2 7 35879878A> C null I L 137 137 missense 0.78 possibly damaging 0.03 deleterious 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs757510137 7p14.2 7 35879879T> C null I T 137 137 missense 0.96 probably damaging 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs746005567 7p14.2 7 35879905C> T null L F 146 146 missense 0.279 benign 0.03 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1265645647 7p14.2 7 35879909C> T null T I 147 147 missense 0.812 possibly damaging 0.01 deleterious 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs769767796 7p14.2 7 35879911C> T null P S 148 148 missense 0.544 possibly damaging 0.03 deleterious 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs779862600 7p14.2 7 35879916G> C null E D 149 149 missense 0.127 benign 0.34 tolerated 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1379271783 7p14.2 7 35879923C> A null Q K 152 152 missense 0.011 benign 1.0 tolerated 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs749056864 7p14.2 7 35879928G> C null Q H 153 153 missense 0.006 benign 0.22 tolerated 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1294581509 7p14.2 7 35882497T> C null I T 162 162 missense 0.996 probably damaging 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1470272403 7p14.2 7 35882506A> G null H R 165 165 missense 0.847 possibly damaging 0.04 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1177134218 7p14.2 7 35882512T> C null I T 167 167 missense 0.982 probably damaging 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs543252898 7p14.2 7 35882519A> G null I M 169 169 missense 0.948 probably damaging 0.01 deleterious 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1396052968 7p14.2 7 35882520T> C null Y H 170 170 missense 0.831 possibly damaging 0.07 tolerated 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1376415583 7p14.2 7 35882524A> C null E A 171 171 missense 0.914 probably damaging 0.04 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1178756333 7p14.2 7 35882523G> A null E K 171 171 missense 0.332 benign 0.07 tolerated 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs781461599 7p14.2 7 35882535A> G null T A 175 175 missense 0.018 benign 0.34 tolerated 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1444134255 7p14.2 7 35882551A> G null E G 180 180 missense 0.875 possibly damaging 0.07 tolerated 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1400727688 7p14.2 7 35882559C> G null L V 183 183 missense 0.04 benign 0.41 tolerated 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1325525493 7p14.2 7 35882569A> G null K R 186 186 missense 0.023 benign 0.18 tolerated 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1583620560 7p14.2 7 35883893C> A null D E 189 189 missense 0.015 benign 0.91 tolerated 0 A0A024RA87 SEPTIN7 Septin ESP,ExAC,TOPMed,gnomAD rs370969117 7p14.2 7 35883894C> T null R C 190 190 missense 0.067 benign 0.05 tolerated 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1289333452 7p14.2 7 35883895G> A null R H 190 190 missense 0.025 benign 0.07 tolerated 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs767670433 7p14.2 7 35883912G> A null V I 196 196 missense 0.285 benign 0.3 tolerated 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs756181603 7p14.2 7 35883927A> C null I L 201 201 missense 0.015 benign 0.26 tolerated 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs754002735 7p14.2 7 35883928T> C null I T 201 201 missense 0.345 benign 0.04 deleterious 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs756181603 7p14.2 7 35883927A> G null I V 201 201 missense 0.007 benign 1.0 tolerated 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs754863481 7p14.2 7 35883946A> G null K R 207 207 missense 0.039 benign 0.82 tolerated 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1583620677 7p14.2 7 35883950G> T null R S 208 208 missense 0.243 benign 0.09 tolerated 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs778995475 7p14.2 7 35883965G> T null Q H 213 213 missense 0.935 probably damaging 0.53 tolerated 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1199377689 7p14.2 7 35883964A> T null Q L 213 213 missense 0.232 benign 1.0 tolerated 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1162277681 7p14.2 7 35883969C> A null P T 215 215 missense 0.942 probably damaging 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1388020783 7p14.2 7 35883979T> C null V A 218 218 missense 0.191 benign 0.03 deleterious 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1254483007 7p14.2 7 35885857A> G null I V 231 231 missense 0.001 benign 0.73 tolerated 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1188218903 7p14.2 7 35885867A> G null N S 234 234 missense 0.639 possibly damaging 0.04 deleterious 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs769341158 7p14.2 7 35885870T> C null M T 235 235 missense 0.465 possibly damaging 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1468892434 7p14.2 7 35890672C> A null H N 240 240 missense 0.333 benign 0.06 tolerated 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs747316599 7p14.2 7 35890687A> G null K E 245 245 missense 0.98 probably damaging 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1246028482 7p14.2 7 35890690G> T null D Y 246 246 missense 0.997 probably damaging 0.02 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1486734843 7p14.2 7 35890697C> T null T I 248 248 missense 1.0 probably damaging 0.02 deleterious 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs771370308 7p14.2 7 35890699A> G null N D 249 249 missense 0.134 benign 0.02 deleterious 0 A0A024RA87 SEPTIN7 Septin ExAC rs776892910 7p14.2 7 35890703A> G null N S 250 250 missense 0.314 benign 0.1 tolerated 0 A0A024RA87 SEPTIN7 Septin ESP,ExAC,TOPMed,gnomAD rs375490583 7p14.2 7 35890705G> A null V I 251 251 missense 0.429 benign 0.07 tolerated 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1420068114 7p14.2 7 35890712A> G null Y C 253 253 missense 0.796 possibly damaging 0.01 deleterious 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1340487378 7p14.2 7 35890711T> C null Y H 253 253 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1234497394 7p14.2 7 35890719C> G null N K 255 255 missense 0.989 probably damaging 0.03 deleterious 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1444429110 7p14.2 7 35890718A> G null N S 255 255 missense 0.961 probably damaging 0.01 deleterious 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1583635101 7p14.2 7 35890729A> G null R G 259 259 missense 0.428 benign 0.07 tolerated 0 A0A024RA87 SEPTIN7 Septin TOPMed rs988669499 7p14.2 7 35890739C> T null A V 262 262 missense 0.669 possibly damaging 0.08 tolerated 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1433328982 7p14.2 7 35890750T> C null Y H 266 266 missense 0.02 benign 0.53 tolerated 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs763191546 7p14.2 7 35890754A> G null N S 267 267 missense 0.031 benign 0.39 tolerated 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1412505847 7p14.2 7 35890757G> C null G A 268 268 missense 0.755 possibly damaging 0.07 tolerated 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1562582943 7p14.2 7 35890759G> A null V I 269 269 missense 0.006 benign 0.23 tolerated 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1411886354 7p14.2 7 35890763A> G null D G 270 270 missense 0.015 benign 0.28 tolerated 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1294665752 7p14.2 7 35890770C> G null N K 272 272 missense 0.0 benign 0.43 tolerated 0 A0A024RA87 SEPTIN7 Septin Ensembl rs13239533 7p14.2 7 35890769A> C null N T 272 272 missense 0.0 benign 0.16 tolerated 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1487143530 7p14.2 7 35890777A> C null K Q 275 275 missense 0.289 benign 0.36 tolerated 0 A0A024RA87 SEPTIN7 Septin TOPMed rs981304633 7p14.2 7 35890784A> G null Q R 277 277 missense 0.0 benign 0.32 tolerated 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1294218320 7p14.2 7 35898252C> T null P S 282 282 missense 0.539 possibly damaging 0.04 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1282744124 7p14.2 7 35898273G> C null E Q 289 289 missense 0.886 possibly damaging 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1181579572 7p14.2 7 35898281G> C null R S 291 291 missense 0.025 benign 0.16 tolerated 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1562590029 7p14.2 7 35898307T> C null M T 300 300 missense 0.09 benign 0.01 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1178267980 7p14.2 7 35898326G> T null Q H 306 306 missense 0.838 possibly damaging 0.06 tolerated 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1300346939 7p14.2 7 35898345A> G null K E 313 313 missense 0.424 benign 0.05 deleterious 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1583650370 7p14.2 7 35898358A> G null Q R 317 317 missense 0.164 benign 0.03 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1326379004 7p14.2 7 35903083G> A null R Q 328 328 missense 0.146 benign 0.08 tolerated 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1244347828 7p14.2 7 35903082C> T null R W 328 328 missense 0.051 benign 0.01 deleterious 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs761757988 7p14.2 7 35903085C> T null R C 329 329 missense 0.026 benign 0.02 deleterious 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1268643235 7p14.2 7 35903086G> A null R H 329 329 missense 0.026 benign 0.04 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1341690255 7p14.2 7 35903096A> T null Q H 332 332 missense 0.838 possibly damaging 0.04 deleterious 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1416446156 7p14.2 7 35903100A> G null K E 334 334 missense 0.143 benign 0.04 deleterious 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1375942774 7p14.2 7 35903101A> G null K R 334 334 missense 0.02 benign 0.24 tolerated 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1215266377 7p14.2 7 35903104A> G null K R 335 335 missense 0.007 benign 0.45 tolerated 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1307377344 7p14.2 7 35903116C> T null A V 339 339 missense 0.114 benign 0.18 tolerated 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1446796189 7p14.2 7 35903142C> T null R C 348 348 missense 0.035 benign 0.03 deleterious 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs772920680 7p14.2 7 35903143G> A null R H 348 348 missense 0.789 possibly damaging 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin ESP,ExAC,TOPMed,gnomAD rs375555966 7p14.2 7 35903145C> T null R C 349 349 missense 0.891 possibly damaging 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs765997248 7p14.2 7 35903146G> A null R H 349 349 missense 0.031 benign 0.03 deleterious 0 A0A024RA87 SEPTIN7 Septin ESP,ExAC,TOPMed,gnomAD rs375555966 7p14.2 7 35903145C> A null R S 349 349 missense 0.155 benign 0.11 tolerated 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1162180006 7p14.2 7 35903149A> G null Q R 350 350 missense 0.005 benign 0.89 tolerated 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1414980517 7p14.2 7 35903152T> G null F C 351 351 missense 0.759 possibly damaging 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1165581420 7p14.2 7 35903154G> A null E K 352 352 missense 0.359 benign 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs754620356 7p14.2 7 35903165A> C null K N 355 355 missense 0.358 benign 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1319988003 7p14.2 7 35903167C> G null A G 356 356 missense 0.0 benign 0.19 tolerated 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs752162655 7p14.2 7 35903184C> G null Q E 362 362 missense 0.003 benign 0.18 tolerated 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1292825433 7p14.2 7 35903187C> T null R C 363 363 missense 0.719 possibly damaging 0.0 deleterious 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1332746119 7p14.2 7 35903188G> A null R H 363 363 missense 0.003 benign 0.05 tolerated 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1274355923 7p14.2 7 35903191T> C null I T 364 364 missense 0.021 benign 0.19 tolerated 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1235146842 7p14.2 7 35903190A> G null I V 364 364 missense 0.0 benign 0.38 tolerated 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1286754370 7p14.2 7 35903208T> A null S T 370 370 missense 0.024 benign 0.54 tolerated 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs746221445 7p14.2 7 35903212C> T null S L 371 371 missense 0.0 benign 0.22 tolerated 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs760435092 7p14.2 7 35904271A> T null K M 378 378 missense 0.628 possibly damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs760435092 7p14.2 7 35904271A> G null K R 378 378 missense 0.003 benign 0.12 tolerated - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs766125911 7p14.2 7 35904275G> T null K N 379 379 missense 0.021 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC rs776436237 7p14.2 7 35904280G> A null G E 381 381 missense 0.36 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1213314201 7p14.2 7 35904285A> C null I L 383 383 missense 0.011 benign 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1211043739 7p14.2 7 35904287C> G null I M 383 383 missense 0.276 benign 0.0 deleterious - low confidence 0 A0A024RBG1 NUDT4B Diphosphoinositol polyphosphate phosphohydrolase NUDT4B Ensembl rs1558397755 1q21.2 1 148748996A> G null E G 15 15 missense 0.462 possibly damaging 0.03 deleterious 0 A0A024RBG1 NUDT4B Diphosphoinositol polyphosphate phosphohydrolase NUDT4B Ensembl rs112714472 1q21.2 1 148749091A> T null I F 47 47 missense 0.979 probably damaging 0.0 deleterious 0 A0A024RBG1 NUDT4B Diphosphoinositol polyphosphate phosphohydrolase NUDT4B Ensembl rs1558397759 1q21.2 1 148749133G> A null G S 61 61 missense 0.206 benign 0.81 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed rs1273774512 12q24.31 12 122218352C> T null A T 4 4 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1422200315 12q24.31 12 122218348A> G null V A 5 5 missense 0.398 benign 0.67 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ESP,TOPMed,gnomAD rs147316018 12q24.31 12 122218341C> G null L F 7 7 missense 0.864 possibly damaging 0.03 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed rs962688195 12q24.31 12 122218342A> G null L S 7 7 missense 0.951 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed rs763349592 12q24.31 12 122218337T> C null T A 9 9 missense 0.242 benign 0.07 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs758000427 12q24.31 12 122218336G> A null T I 9 9 missense 0.989 probably damaging 0.05 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed,gnomAD rs773828186 12q24.31 12 122218332A> T null D E 10 10 missense 0.989 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1015881528 12q24.31 12 122218333T> C null D G 10 10 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1015881528 12q24.31 12 122218333T> A null D V 10 10 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,TOPMed,gnomAD rs752158530 12q24.31 12 122218327G> A null T I 12 12 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,TOPMed,gnomAD rs752158530 12q24.31 12 122218327G> C null T S 12 12 missense 0.487 possibly damaging 0.71 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs764802910 12q24.31 12 122218324G> C null S C 13 13 missense 0.974 probably damaging 0.18 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,TOPMed,gnomAD rs761129000 12q24.31 12 122218322T> C null T A 14 14 missense 0.511 possibly damaging 0.07 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs774790079 12q24.31 12 122218316G> A null L F 16 16 missense 1.0 probably damaging 0.02 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs774790079 12q24.31 12 122218316G> T null L I 16 16 missense 0.999 probably damaging 0.02 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs774790079 12q24.31 12 122218316G> C null L V 16 16 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs116496131 12q24.31 12 122218312G> C null S C 17 17 0.000998 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs749514412 12q24.31 12 122218313A> G null S P 17 17 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed,gnomAD rs1312482444 12q24.31 12 122218310G> C null Q E 18 18 missense 0.127 benign 0.05 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed,gnomAD rs1446212555 12q24.31 12 122218307T> C null T A 19 19 missense 0.995 probably damaging 0.18 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs769884447 12q24.31 12 122218304T> C null T A 20 20 missense 0.995 probably damaging 0.07 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,TOPMed,gnomAD rs745841502 12q24.31 12 122218299A> C null Y * 21 21 stop gained 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs112610245 12q24.31 12 122218297G> A null A V 22 22 missense 0.996 probably damaging 0.03 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI Ensembl,dbSNP rs876657775 12q24.31 12 122218290A> C null I M 24 24 missense 0.183 benign 0.01 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs757142709 12q24.31 12 122218285G> C null A G 26 26 missense 0.894 possibly damaging 0.03 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1445325321 12q24.31 12 122218283T> C null I V 27 27 missense 0.235 benign 0.09 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,TOPMed,dbSNP,gnomAD rs746807208 12q24.31 12 122218280T> C null T A 28 28 missense 0.982 probably damaging 0.06 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs758040962 12q24.31 12 122218271T> C null T A 31 31 missense 0.995 probably damaging 0.33 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1317215726 12q24.31 12 122216868G> C null A G 33 33 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed rs1409193763 12q24.31 12 122216865A> G null V A 34 34 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,TOPMed,gnomAD rs754521964 12q24.31 12 122216863A> C null Y D 35 35 missense 1.0 probably damaging 0.04 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed rs1335500507 12q24.31 12 122216850G> C null S C 39 39 missense 0.999 probably damaging 0.04 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed rs1335500507 12q24.31 12 122216850G> T null S Y 39 39 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1291927404 12q24.31 12 122216848G> A null L F 40 40 missense 1.0 probably damaging 0.09 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC rs757907510 12q24.31 12 122216847A> C null L R 40 40 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147087100 12q24.31 12 122216842G> A null R * 42 42 0.0002 stop gained 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI 1000Genomes,gnomAD rs572542575 12q24.31 12 122216841C> T null R Q 42 42 0.0002 missense 0.056 benign 0.35 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed rs1271246337 12q24.31 12 122216839G> C null Q E 43 43 missense 0.171 benign 0.01 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1431215087 12q24.31 12 122216835T> C null Y C 44 44 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,dbSNP,gnomAD rs764412748 12q24.31 12 122216836A> G null Y H 44 44 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI Ensembl rs759161752 12q24.31 12 122216825T> A null L F 47 47 missense 1.0 probably damaging 0.05 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs763398045 12q24.31 12 122216821C> T null G R 49 49 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs763398045 12q24.31 12 122216821C> G null G R 49 49 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs752963586 12q24.31 12 122216814A> G null M T 51 51 missense 0.007 benign 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed rs1339270201 12q24.31 12 122216815T> C null M V 51 51 missense 0.03 benign 0.02 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ESP,TOPMed rs369759498 12q24.31 12 122216806C> T null E K 54 54 missense 0.007 benign 0.89 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed rs1324628178 12q24.31 12 122216792T> A null E D 58 58 missense 0.005 benign 0.12 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,TOPMed,dbSNP,gnomAD rs759692888 12q24.31 12 122216791C> T null V M 59 59 missense 0.997 probably damaging 0.01 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs776746774 12q24.31 12 122216786C> T null W * 60 60 stop gained 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs776746774 12q24.31 12 122216786C> A null W C 60 60 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,TOPMed,gnomAD rs770991206 12q24.31 12 122216784T> C null Q R 61 61 missense 0.997 probably damaging 0.03 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs760657869 12q24.31 12 122216781A> C null V G 62 62 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs773157999 12q24.31 12 122216778A> T null I N 63 63 missense 0.993 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1224656077 12q24.31 12 122216779T> C null I V 63 63 missense 0.076 benign 0.17 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs747983793 12q24.31 12 122216774T> C null I M 64 64 missense 0.825 possibly damaging 0.01 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed,gnomAD rs980422753 12q24.31 12 122216775A> G null I T 64 64 missense 0.931 probably damaging 0.01 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs771868678 12q24.31 12 122216776T> C null I V 64 64 missense 0.245 benign 0.24 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed,gnomAD rs1470436827 12q24.31 12 122216772C> G null G A 65 65 missense 0.999 probably damaging 0.06 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed,gnomAD rs1470436827 12q24.31 12 122216772C> T null G E 65 65 missense 1.0 probably damaging 0.06 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI Ensembl rs946390746 12q24.31 12 122216773C> T null G R 65 65 missense 1.0 probably damaging 0.05 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs778516044 12q24.31 12 122216770C> T null A T 66 66 missense 1.0 probably damaging 0.03 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs768413662 12q24.31 12 122216766C> G null R T 67 67 missense 0.836 possibly damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1423569916 12q24.31 12 122216582C> A null M I 70 70 missense 0.103 benign 0.21 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI Ensembl rs1425869096 12q24.31 12 122216574T> C null K R 73 73 missense 0.192 benign 0.88 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs774270478 12q24.31 12 122216569G> C null Q E 75 75 missense 0.019 benign 0.58 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1274563329 12q24.31 12 122216562T> G null Y S 77 77 missense 0.991 probably damaging 0.23 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1361713467 12q24.31 12 122216559A> C null L W 78 78 missense 0.989 probably damaging 0.04 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ESP,ExAC,TOPMed,gnomAD rs376774043 12q24.31 12 122216551C> A null E * 81 81 stop gained 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed,gnomAD rs994617815 12q24.31 12 122216537C> A null M I 85 85 missense 0.048 benign 0.33 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed,gnomAD rs994617815 12q24.31 12 122216537C> T null M I 85 85 missense 0.048 benign 0.33 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI 1000Genomes,ExAC,TOPMed,gnomAD rs199768401 12q24.31 12 122216539T> A null M L 85 85 missense 0.003 benign 0.11 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI 1000Genomes,ExAC,TOPMed,gnomAD rs199768401 12q24.31 12 122216539T> C null M V 85 85 missense 0.078 benign 0.25 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,TOPMed,gnomAD rs745376603 12q24.31 12 122216535G> A null T I 86 86 missense 0.993 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1391765504 12q24.31 12 122216532G> A null A V 87 87 missense 1.0 probably damaging 0.03 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs780506459 12q24.31 12 122216529A> G null V A 88 88 missense 0.744 possibly damaging 0.03 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC rs748596027 12q24.31 12 122216518C> T null E K 92 92 missense 0.999 probably damaging 0.3 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1365705749 12q24.31 12 122216509C> A null A S 95 95 missense 1.0 probably damaging 0.02 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1365705749 12q24.31 12 122216509C> T null A T 95 95 missense 1.0 probably damaging 0.02 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs779372275 cosmic curated [Cosmic]: large_intestine cosmic_study:376 12q24.31 12 122216508G> A null A V 95 95 missense 1.0 probably damaging 0.02 deleterious 1 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed rs1366697557 12q24.31 12 122216492T> G null Q H 100 100 missense 0.013 benign 0.07 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI Ensembl rs1056690931 12q24.31 12 122216493T> C null Q R 100 100 missense 0.41 benign 0.14 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs766596915 12q24.31 12 122216490G> A null T I 101 101 missense 0.909 probably damaging 0.01 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs766195715 12q24.31 12 122208575C> T null A T 103 103 missense 0.951 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI 1000Genomes,ExAC,gnomAD rs575550434 12q24.31 12 122208572C> T null D N 104 104 0.000599 missense 0.954 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1187894368 12q24.31 12 122208569G> C null Q E 105 105 missense 0.991 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed,gnomAD rs973478698 12q24.31 12 122208565G> C null A G 106 106 missense 0.995 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs750056920 12q24.31 12 122208566C> A null A S 106 106 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed,gnomAD rs973478698 12q24.31 12 122208565G> A null A V 106 106 missense 0.998 probably damaging 0.03 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs767109973 12q24.31 12 122208562G> C null S C 107 107 missense 1.0 probably damaging 0.04 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs767109973 12q24.31 12 122208562G> A null S F 107 107 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI 1000Genomes,ExAC,TOPMed,gnomAD rs191255872 12q24.31 12 122208560T> G null I L 108 108 0.000399 missense 0.071 benign 0.02 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI 1000Genomes,ExAC,TOPMed,gnomAD rs191255872 12q24.31 12 122208560T> C null I V 108 108 0.000399 missense 0.001 benign 1.0 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs760073847 12q24.31 12 122208556G> A null T I 109 109 missense 0.747 possibly damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs760073847 12q24.31 12 122208556G> T null T N 109 109 missense 0.837 possibly damaging 0.01 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed,gnomAD rs781358968 12q24.31 12 122208554C> T null A T 110 110 missense 0.665 possibly damaging 0.07 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1399707737 12q24.31 12 122208551T> C null R G 111 111 missense 0.971 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed rs1345795433 12q24.31 12 122208549C> A null R S 111 111 missense 0.971 probably damaging 0.01 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ESP,ExAC,TOPMed,gnomAD rs199738234 12q24.31 12 122208548T> C null N D 112 112 missense 0.255 benign 0.02 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1297175168 12q24.31 12 122208544T> A null H L 113 113 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI Ensembl rs865798313 12q24.31 12 122208541A> G null I T 114 114 missense 0.911 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1432587092 12q24.31 12 122208542T> C null I V 114 114 missense 0.034 benign 0.1 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs747280328 12q24.31 12 122208537C> A null Q H 115 115 missense 0.04 benign 0.01 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1465537999 12q24.31 12 122208530T> A null K * 118 118 stop gained 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs772377484 12q24.31 12 122208521C> T null V M 121 121 missense 0.986 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed rs867016501 12q24.31 12 122208513C> A null E D 123 123 missense 0.653 possibly damaging 0.04 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI Ensembl rs1216715267 12q24.31 12 122208512C> T null V M 124 124 missense 0.994 probably damaging 0.09 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,TOPMed,gnomAD rs779040136 12q24.31 12 122208509G> C null H D 125 125 missense 0.165 benign 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,TOPMed,gnomAD rs764647908 12q24.31 12 122208508T> C null H R 125 125 missense 0.0 benign 1.0 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,TOPMed,gnomAD rs779040136 12q24.31 12 122208509G> A null H Y 125 125 missense 0.159 benign 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI Ensembl,dbSNP rs387906893 [ClinVar]: Autosomal dominant nonsyndromic hearing loss 64, [Ensembl]: Deafness, autosomal dominant 64 (dfna64), [UniProt]: DFNA64; does not increase apoptotic activity compared to wild-type; enhances the degradation of mutant and wild-type protein via heterodimerization; cells expressing the mutant protein show increased susceptibility to calcium-induced loss of mitochondrial potential compared to wild-type, indicating increased sensitivity to mitochondrial stress and suggestive of mitochondrial dysfunction pubmed:21722859 pubmed:21722859 12q24.31 12 122216808G> A null S L 126 126 missense 0 Autosomal dominant nonsyndromic hearing loss 64 MIM:614152 ClinVar:RCV000023402 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI Ensembl,dbSNP rs387906893 [ClinVar]: Autosomal dominant nonsyndromic hearing loss 64, [Ensembl]: Deafness, autosomal dominant 64 (dfna64), [UniProt]: DFNA64; does not increase apoptotic activity compared to wild-type; enhances the degradation of mutant and wild-type protein via heterodimerization; cells expressing the mutant protein show increased susceptibility to calcium-induced loss of mitochondrial potential compared to wild-type, indicating increased sensitivity to mitochondrial stress and suggestive of mitochondrial dysfunction pubmed:21722859 pubmed:21722859 12q24.31 12 122216808G> A null S L 126 126 missense 0 Deafness, autosomal dominant, 64 (DFNA64) A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. MIM:614152 pubmed:21722859 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1448019291 12q24.31 12 122208505T> G null Q P 126 126 missense 0.918 probably damaging 0.01 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1448019291 12q24.31 12 122208505T> C null Q R 126 126 missense 0.695 possibly damaging 0.1 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed rs1193868082 12q24.31 12 122208499G> C null S C 128 128 missense 0.522 possibly damaging 0.08 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138784666 12q24.31 12 122208496C> T null R Q 129 129 0.000399 missense 0.0 benign 1.0 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ESP,ExAC,TOPMed,gnomAD rs375537524 12q24.31 12 122208497G> A null R W 129 129 missense 0.609 possibly damaging 0.02 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1343006878 12q24.31 12 122208490G> C null A G 131 131 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1343006878 12q24.31 12 122208490G> A null A V 131 131 missense 0.999 probably damaging 0.02 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1274156633 12q24.31 12 122208484G> C null T S 133 133 missense 0.007 benign 0.25 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI 1000Genomes,ExAC,gnomAD rs534795428 12q24.31 12 122208481T> C null K R 134 134 0.0002 missense 0.903 possibly damaging 0.02 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed rs1409384874 12q24.31 12 122208479G> C null L V 135 135 missense 0.998 probably damaging 0.05 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1313251652 12q24.31 12 122208472T> G null E A 137 137 missense 0.462 possibly damaging 0.03 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs751124169 12q24.31 12 122208470C> T null A T 138 138 missense 0.046 benign 0.75 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI dbSNP rs1430893033 12q24.31 12 122208466_122208467de l null Q null 139 139 frameshift 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs760001142 12q24.31 12 122208465C> G null Q H 139 139 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC rs763651707 12q24.31 12 122208466T> C null Q R 139 139 missense 0.997 probably damaging 0.02 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed,gnomAD rs1299845903 12q24.31 12 122208463A> G null I T 140 140 missense 0.0 benign 1.0 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1409867469 12q24.31 12 122208461C> T null E K 141 141 missense 0.012 benign 0.03 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1409867469 12q24.31 12 122208461C> G null E Q 141 141 missense 0.007 benign 0.14 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1369452147 12q24.31 12 122208460T> A null E V 141 141 missense 0.42 benign 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,TOPMed,gnomAD rs761150083 12q24.31 12 122208455G> A null L F 143 143 missense 0.984 probably damaging 0.01 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed rs1325467280 12q24.31 12 122208454A> G null L P 143 143 missense 0.996 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,TOPMed,gnomAD rs773655643 12q24.31 12 122208452G> A null R C 144 144 missense 0.873 possibly damaging 0.03 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,TOPMed,gnomAD rs772481515 12q24.31 12 122208451C> T null R H 144 144 missense 0.018 benign 0.17 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs748377863 12q24.31 12 122208449G> T null Q K 145 145 missense 0.005 benign 0.39 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed rs1304680651 12q24.31 12 122208440G> C null Q E 148 148 missense 0.205 benign 0.53 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed rs1323281887 12q24.31 12 122208439T> C null Q R 148 148 missense 0.456 possibly damaging 0.19 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1203281941 12q24.31 12 122208437C> G null E Q 149 149 missense 0.75 possibly damaging 0.14 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed rs1272125345 12q24.31 12 122208432T> G null E D 150 150 missense 0.0 benign 0.36 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI Ensembl rs761328867 12q24.31 12 122208433T> C null E G 150 150 missense 0.003 benign 0.18 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1489552571 12q24.31 12 122208434C> T null E K 150 150 missense 0.035 benign 0.3 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI gnomAD rs1243741310 12q24.31 12 122208430C> G null G A 151 151 missense 0.001 benign 0.68 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150199226 12q24.31 12 122208431C> T null G R 151 151 0.001198 missense 0.007 benign 0.07 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed,gnomAD rs999897604 12q24.31 12 122208425C> T null E K 153 153 missense 0.084 benign 0.37 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ESP,ExAC,TOPMed,gnomAD rs371241484 12q24.31 12 122208422G> C null R G 154 154 missense 0.0 benign 0.39 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs749282754 12q24.31 12 122208421C> T null R Q 154 154 missense 0.0 benign 0.59 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ESP,ExAC,TOPMed,gnomAD rs371241484 12q24.31 12 122208422G> A null R W 154 154 missense 0.42 benign 0.02 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed rs1416489769 12q24.31 12 122208416C> A null E * 156 156 stop gained 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs769655007 12q24.31 12 122208412G> A null S L 157 157 missense 0.0 benign 0.29 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs780949034 12q24.31 12 122208410C> A null E * 158 158 stop gained 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ESP,ExAC,TOPMed,gnomAD rs367673893 12q24.31 12 122208406T> G null Q P 159 159 missense 0.335 benign 0.36 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI 1000Genomes,ExAC,TOPMed,gnomAD rs530426732 12q24.31 12 122208403T> G null E A 160 160 0.0002 missense 0.776 possibly damaging 0.01 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed rs1354002754 12q24.31 12 122208402C> G null E D 160 160 missense 0.003 benign 0.32 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs555842468 12q24.31 12 122208404C> T null E K 160 160 missense 0.637 possibly damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs555842468 12q24.31 12 122208404C> G null E Q 160 160 missense 0.684 possibly damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI TOPMed rs1441476566 12q24.31 12 122208401C> A null A S 161 161 missense 0.857 possibly damaging 0.07 tolerated 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI dbSNP rs1057519151 12q24.31 12 122208389_122208399de l null Y null 162 162 frameshift 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI 1000Genomes,ExAC,gnomAD rs563254479 12q24.31 12 122208397T> A null Y F 162 162 0.0002 missense 0.993 probably damaging 0.02 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI Ensembl rs1593164418 12q24.31 12 122208398A> G null Y H 162 162 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs766996092 12q24.31 12 122208395G> C null L V 163 163 missense 0.989 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ESP,ExAC,gnomAD rs373789053 12q24.31 12 122208392G> A null R C 164 164 missense 0.96 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI 1000Genomes,ExAC,TOPMed,gnomAD rs551079634 12q24.31 12 122208391C> T null R H 164 164 0.0002 missense 0.839 possibly damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Direct IAP-binding protein with low pI ExAC,gnomAD rs767963561 12q24.31 12 122208389C> G null E Q 165 165 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs761234276 12q24.31 12 122788828C> G null A G 5 5 missense 0.275 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs756743489 12q24.31 12 122788833C> T null R C 7 7 missense 0.125 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs141243392 12q24.31 12 122788834G> A null R H 7 7 0.0002 missense 0.054 benign 0.19 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1311755413 12q24.31 12 122788837A> T null D V 8 8 missense 0.976 probably damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs919957536 12q24.31 12 122788843A> G null K R 10 10 missense 0.781 possibly damaging 0.09 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1215823006 12q24.31 12 122788849C> T null A V 12 12 missense 0.0 benign 0.71 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1331092374 12q24.31 12 122788857T> A null C S 15 15 missense 0.015 benign 0.81 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1457408352 12q24.31 12 122788860A> G null I V 16 16 missense 0.005 benign 0.15 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs974695507 12q24.31 12 122788870A> G null E G 19 19 missense 0.988 probably damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,TOPMed,gnomAD rs370209442 12q24.31 12 122788869G> A null E K 19 19 missense 0.98 probably damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs202205961 12q24.31 12 122788873A> G null K R 20 20 missense 0.987 probably damaging 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs202205961 12q24.31 12 122788873A> C null K T 20 20 missense 0.983 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs952306924 12q24.31 12 122788875C> G null Q E 21 21 missense 0.391 benign 0.1 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs952306924 12q24.31 12 122788875C> A null Q K 21 21 missense 0.941 probably damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs199854554 12q24.31 12 122788880T> G null D E 22 22 missense 0.96 probably damaging 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1387785760 12q24.31 12 122788894T> A null L * 27 27 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs774175442 12q24.31 12 122788899G> A null A T 29 29 missense 0.007 benign 0.42 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs748235376 12q24.31 12 122788900C> T null A V 29 29 missense 0.007 benign 0.16 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs772085306 12q24.31 12 122788902C> T null L F 30 30 missense 0.062 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368758447 12q24.31 12 122788906A> G null K R 31 31 0.000599 missense 0.024 benign 0.34 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs761037261 12q24.31 12 122788918A> G null N S 35 35 missense 0.037 benign 0.27 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1283485549 12q24.31 12 122788921A> T null K I 36 36 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs777073101 12q24.31 12 122788924T> C null L P 37 37 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1555254717 12q24.31 12 122788929G> A null E K 39 39 missense 0.311 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1344079032 12q24.31 12 122792028A> G null N D 42 42 missense 0.941 probably damaging 0.18 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs764663509 12q24.31 12 122792029A> G null N S 42 42 missense 0.391 benign 0.26 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs749893773 12q24.31 12 122792038C> A null T K 45 45 missense 0.739 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs749893773 12q24.31 12 122792038C> T null T M 45 45 missense 0.819 possibly damaging 0.28 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1033861844 12q24.31 12 122792050A> G null N S 49 49 missense 0.983 probably damaging 0.1 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs754799246 12q24.31 12 122792053A> G null E G 50 50 missense 0.403 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1442547280 cosmic curated [Cosmic]: lung cosmic_study:418 12q24.31 12 122792055C> A null Q K 51 51 missense 0.205 benign 0.0 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs372331925 12q24.31 12 122792056A> C null Q P 51 51 missense 0.009 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs992259057 12q24.31 12 122792058C> T null R * 52 52 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143361087 12q24.31 12 122792059G> A null R Q 52 52 0.000399 missense 0.574 possibly damaging 0.31 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1436511899 12q24.31 12 122792062A> G null E G 53 53 missense 0.678 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1485695776 12q24.31 12 122792061G> C null E Q 53 53 missense 0.162 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs762641313 12q24.31 12 122792065A> G null E G 54 54 missense 0.634 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs950740146 12q24.31 12 122792067A> G null I V 55 55 missense 0.919 probably damaging 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1212393442 12q24.31 12 122792072T> G null I M 56 56 missense 0.714 possibly damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs984795619 12q24.31 12 122792070A> G null I V 56 56 missense 0.028 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs765867205 12q24.31 12 122792074G> A null R H 57 57 missense 0.994 probably damaging 0.36 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1244157482 12q24.31 12 122792079A> G null K E 59 59 missense 0.98 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs747041118 12q24.31 12 122792084A> C null Q H 60 60 missense 0.673 possibly damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs771186923 12q24.31 12 122792088A> T null K * 62 62 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs771186923 12q24.31 12 122792088A> G null K E 62 62 missense 0.085 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs771186923 12q24.31 12 122792088A> C null K Q 62 62 missense 0.316 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs770066309 12q24.31 12 122792093T> A null S R 63 63 missense 0.643 possibly damaging 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs770066309 12q24.31 12 122792093T> G null S R 63 63 missense 0.643 possibly damaging 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs775646453 12q24.31 12 122792095G> T null C F 64 64 missense 0.013 benign 0.09 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1351911557 12q24.31 12 122792101A> G null H R 66 66 missense 0.13 benign 0.61 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375333901 cosmic curated [Cosmic]: lung cosmic_study:418 12q24.31 12 122792103G> A null D N 67 67 missense 0.975 probably damaging 0.36 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs760146684 12q24.31 12 122792111G> T null L F 69 69 missense 0.995 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1426015988 cosmic curated [Cosmic]: large_intestine cosmic_study:376 12q24.31 12 122792119C> T null T I 72 72 missense 0.025 benign 0.04 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1301960706 12q24.31 12 122797307T> C null V A 73 73 missense 0.001 benign 0.55 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1413563479 12q24.31 12 122797312A> G null R G 75 75 missense 0.983 probably damaging 0.13 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs775259284 12q24.31 12 122797313G> C null R T 75 75 missense 0.983 probably damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs79287693 12q24.31 12 122797319A> G null K R 77 77 missense 0.618 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs762814336 12q24.31 12 122797322G> A null R K 78 78 missense 0.996 probably damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs764051643 12q24.31 12 122797323G> T null R S 78 78 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1355278893 12q24.31 12 122797328A> C null D A 80 80 missense 0.922 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs751409749 12q24.31 12 122797331A> G null E G 81 81 missense 0.621 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1293604092 12q24.31 12 122797330G> A null E K 81 81 missense 0.453 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1409417843 12q24.31 12 122797335G> C null L F 82 82 missense 0.853 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs750418742 12q24.31 12 122797346C> A null A E 86 86 missense 0.99 probably damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs750418742 12q24.31 12 122797346C> G null A G 86 86 missense 0.989 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs146255239 12q24.31 12 122797345G> T null A S 86 86 missense 0.972 probably damaging 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs146255239 12q24.31 12 122797345G> A null A T 86 86 missense 0.988 probably damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs750418742 12q24.31 12 122797346C> T null A V 86 86 missense 0.989 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1197502961 12q24.31 12 122797350G> C null K N 87 87 missense 0.988 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs780106765 12q24.31 12 122797354A> G null K E 89 89 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs749590258 12q24.31 12 122797360G> T null E * 91 91 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs749590258 12q24.31 12 122797360G> A null E K 91 91 missense 0.725 possibly damaging 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs755321849 12q24.31 12 122797363C> T null R C 92 92 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs993212157 12q24.31 12 122797364G> A null R H 92 92 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1318758741 12q24.31 12 122797366A> G null T A 93 93 missense 0.475 possibly damaging 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1169963403 12q24.31 12 122797378C> G null L V 97 97 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs139198472 12q24.31 12 122797381C> T null H Y 98 98 missense 0.439 benign 0.1 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1327714787 12q24.31 12 122797391G> T null R I 101 101 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1176037305 12q24.31 12 122798086T> C null I T 103 103 missense 0.154 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1322062264 12q24.31 12 122798089A> T null Y F 104 104 missense 0.673 possibly damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1359049473 12q24.31 12 122798097C> G null Q E 107 107 missense 0.183 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1453465931 12q24.31 12 122798104G> A null S N 109 109 missense 0.022 benign 0.43 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs756143185 12q24.31 12 122798106G> T null D Y 110 110 missense 0.873 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs753929252 12q24.31 12 122798113A> T null Q L 112 112 missense 0.311 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs971303790 cosmic curated [Cosmic]: endometrium cosmic_study:419 12q24.31 12 122798118C> A null L I 114 114 missense 0.997 probably damaging 0.0 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs755125925 12q24.31 12 122798125T> G null F C 116 116 missense 0.8 possibly damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs779139526 12q24.31 12 122798128A> T null N I 117 117 missense 0.468 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs779139526 12q24.31 12 122798128A> G null N S 117 117 missense 0.021 benign 0.11 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs984616654 12q24.31 12 122798136A> G null N D 120 120 missense 0.116 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1229439242 12q24.31 12 122798140C> G null S C 121 121 missense 0.091 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs778113712 12q24.31 12 122798152T> C null I T 125 125 missense 0.079 benign 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs373556095 12q24.31 12 122798154C> T null Q * 126 126 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs769178465 12q24.31 12 122798158T> C null M T 127 127 missense 0.003 benign 0.2 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1293527904 12q24.31 12 122798157A> G null M V 127 127 missense 0.003 benign 0.14 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78361567 12q24.31 12 122798161A> G null Y C 128 128 0.00619 missense 0.01 benign 0.12 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs78361567 12q24.31 12 122798161A> T null Y F 128 128 0.00619 missense 0.006 benign 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1368912379 12q24.31 12 122798163G> A null D N 129 129 missense 0.003 benign 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1480871094 12q24.31 12 122798166T> A null S T 130 130 missense 0.005 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs768372312 12q24.31 12 122798169A> G null K E 131 131 missense 0.099 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs768372312 12q24.31 12 122798169A> C null K Q 131 131 missense 0.189 benign 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs774192846 12q24.31 12 122798172A> G null M V 132 132 missense 0.006 benign 0.13 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1160271001 12q24.31 12 122798175G> T null E * 133 133 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes rs189466786 12q24.31 12 122798177G> C null E D 133 133 0.0002 missense 0.007 benign 0.15 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs369413638 12q24.31 12 122798200G> A null S N 141 141 missense 0.369 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs370023254 12q24.31 12 122801133G> A null M I 144 144 missense 0.121 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375704989 12q24.31 12 122801131A> C null M L 144 144 missense 0.006 benign 0.12 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375704989 12q24.31 12 122801131A> G null M V 144 144 missense 0.121 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1437273992 12q24.31 12 122801135G> T null C F 145 145 missense 0.961 probably damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1205859048 12q24.31 12 122801140T> C null S P 147 147 missense 0.914 probably damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs757607826 12q24.31 12 122801149G> A null E K 150 150 missense 0.654 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs757607826 12q24.31 12 122801149G> C null E Q 150 150 missense 0.856 possibly damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs373036488 12q24.31 12 122801161C> T null P S 154 154 missense 0.019 benign 0.39 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1258588651 12q24.31 12 122801164A> G null K E 155 155 missense 0.997 probably damaging 0.12 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs754520724 12q24.31 12 122801171A> G null D G 157 157 missense 0.085 benign 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs188186254 cosmic curated [Cosmic]: endometrium cosmic_study:419 12q24.31 12 122801170G> A null D N 157 157 0.000599 missense 0.003 benign 0.05 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs778507187 12q24.31 12 122801174T> A null I N 158 158 missense 0.542 possibly damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1341052041 12q24.31 12 122801176A> G null K E 159 159 missense 0.039 benign 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1356200326 12q24.31 12 122801180G> A null R K 160 160 missense 0.875 possibly damaging 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1394115530 12q24.31 12 122801201T> C null L P 167 167 missense 0.009 benign 0.14 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs201433522 12q24.31 12 122801209G> A null D N 170 170 0.0002 missense 0.558 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1285692210 12q24.31 12 122801214G> C null Q H 171 171 missense 0.006 benign 0.16 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs746798450 12q24.31 12 122801224G> A null A T 175 175 missense 0.001 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141587850 12q24.31 12 122801228T> C null M T 176 176 0.005591 missense 0.0 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs979860198 12q24.31 12 122801227A> G null M V 176 176 missense 0.0 benign 0.26 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs777883090 12q24.31 12 122801232G> T null L F 177 177 missense 0.011 benign 0.17 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1368435277 12q24.31 12 122801239C> G null Q E 180 180 missense 0.173 benign 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs775504326 12q24.31 12 122801248T> C null S P 183 183 missense 0.003 benign 0.21 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1281536104 12q24.31 12 122801251G> C null D H 184 184 missense 0.912 probably damaging 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1486832582 12q24.31 12 122801255A> G null K R 185 185 missense 0.005 benign 0.13 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs545336133 12q24.31 12 122801265C> A null C * 188 188 0.000399 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1040613218 12q24.31 12 122801264G> A null C Y 188 188 missense 0.009 benign 0.31 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs774474363 12q24.31 12 122801266G> A null D N 189 189 missense 0.029 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs762231732 12q24.31 12 122801269G> T null E * 190 190 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs768051388 12q24.31 12 122801272T> C null C R 191 191 missense 0.015 benign 0.1 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1432789628 12q24.31 12 122801275A> G null K E 192 192 missense 0.017 benign 0.12 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs750830635 12q24.31 12 122801284A> G null K E 195 195 missense 0.453 possibly damaging 0.05 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs750830635 12q24.31 12 122801284A> C null K Q 195 195 missense 0.73 possibly damaging 0.09 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1487645028 12q24.31 12 122801287C> G null Q E 196 196 missense 0.023 benign 0.36 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs767024804 12q24.31 12 122801291A> G null Q R 197 197 missense 0.001 benign 0.25 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1566079716 12q24.31 12 122801294T> C null I T 198 198 missense 0.037 benign 0.19 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1356926284 12q24.31 12 122801297A> G null D G 199 199 missense 0.0 benign 0.25 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1431683921 12q24.31 12 122801296G> A null D N 199 199 missense 0.0 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs201538122 12q24.31 12 122801300C> T null T I 200 200 0.000799 missense 0.277 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs147898872 12q24.31 12 122801303T> C null V A 201 201 missense 0.0 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1234233996 12q24.31 12 122801302G> A null V M 201 201 missense 0.206 benign 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs17855031 12q24.31 12 122801327C> T null T M 209 209 missense 0.736 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1387473716 12q24.31 12 122801338A> G null I V 213 213 missense 0.0 benign 0.23 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1390590283 12q24.31 12 122801341T> G null F V 214 214 missense 0.146 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs745671215 12q24.31 12 122801352C> A null D E 217 217 missense 0.996 probably damaging 0.17 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs745671215 12q24.31 12 122801352C> G null D E 217 217 missense 0.996 probably damaging 0.17 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs878900282 12q24.31 12 122801360A> T null E V 220 220 missense 0.836 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs749353109 12q24.31 12 122801365C> T null H Y 222 222 missense 0.058 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1566079810 12q24.31 12 122801369A> G null N S 223 223 missense 0.0 benign 0.05 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs768682142 12q24.31 12 122801375C> T null P L 225 225 missense 0.202 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1401536678 12q24.31 12 122801395A> G null T A 232 232 missense 0.0 benign 0.24 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs774617309 12q24.31 12 122801404G> A null E K 235 235 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148126897 12q24.31 12 122801410G> A null E K 237 237 0.000599 missense 0.129 benign 0.09 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1451705082 12q24.31 12 122801422A> G null T A 241 241 missense 0.197 benign 0.19 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs374651077 12q24.31 12 122801423C> T null T I 241 241 missense 0.463 possibly damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1002855314 12q24.31 12 122801429G> C null C S 243 243 missense 0.007 benign 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141048617 12q24.31 12 122801431A> G null K E 244 244 0.0002 missense 0.291 benign 0.1 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1224013559 12q24.31 12 122801432A> C null K T 244 244 missense 0.544 possibly damaging 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs757923046 12q24.31 12 122801434A> G null I V 245 245 missense 0.003 benign 0.36 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1459081167 12q24.31 12 122801437C> A null H N 246 246 missense 0.736 possibly damaging 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1566079878 12q24.31 12 122801450C> T null P L 250 250 missense 0.007 benign 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs763572618 12q24.31 12 122801452A> C null K Q 251 251 missense 0.067 benign 0.1 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs751097754 12q24.31 12 122801456G> A null C Y 252 252 missense 0.243 benign 0.17 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs540867038 12q24.31 12 122801459A> G null H R 253 253 0.000799 missense 0.051 benign 0.12 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs199705995 12q24.31 12 122801465C> G null T S 255 255 0.0002 missense 0.005 benign 0.77 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1034934949 12q24.31 12 122801475G> T null Q H 258 258 missense 0.742 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs780033896 12q24.31 12 122801479G> T null E * 260 260 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs780033896 12q24.31 12 122801479G> A null E K 260 260 missense 0.24 benign 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1161703872 12q24.31 12 122801486A> G null K R 262 262 missense 0.022 benign 0.14 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs749239981 12q24.31 12 122801492C> G null P R 264 264 missense 0.277 benign 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1461037280 12q24.31 12 122801494T> C null S P 265 265 missense 0.929 probably damaging 0.11 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs768650790 12q24.31 12 122801504C> G null P R 268 268 missense 0.035 benign 0.07 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs748269523 12q24.31 12 122801516A> G null D G 272 272 missense 0.006 benign 0.09 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs985198794 12q24.31 12 122801518G> A null E K 273 273 missense 0.109 benign 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1449640182 12q24.31 12 122801527T> G null W G 276 276 missense 0.736 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1328712948 12q24.31 12 122801531A> G null H R 277 277 missense 0.382 benign 0.15 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs772372235 12q24.31 12 122801533G> C null D H 278 278 missense 0.961 probably damaging 0.05 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs772372235 12q24.31 12 122801533G> A null D N 278 278 missense 0.892 possibly damaging 0.23 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs773618660 12q24.31 12 122801534A> T null D V 278 278 missense 0.755 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1289895084 12q24.31 12 122801536G> A null V I 279 279 missense 0.003 benign 0.35 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1273304407 12q24.31 12 122801549T> C null L P 283 283 missense 0.919 probably damaging 0.05 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1593808264 12q24.31 12 122801555T> C null L P 285 285 missense 0.027 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,gnomAD rs368745484 12q24.31 12 122801561A> G null N S 287 287 missense 0.0 benign 0.61 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,gnomAD rs138955637 12q24.31 12 122801564G> A null C Y 288 288 missense 0.961 probably damaging 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1173972839 12q24.31 12 122801567C> A null P Q 289 289 missense 0.387 benign 0.32 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1194993713 12q24.31 12 122801566C> T null P S 289 289 missense 0.003 benign 0.75 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs750997907 12q24.31 12 122801579A> G null H R 293 293 missense 0.0 benign 0.2 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1376560907 12q24.31 12 122801578C> T null H Y 293 293 missense 0.058 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1370289900 12q24.31 12 122801585A> C null E A 295 295 missense 0.124 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs761358663 12q24.31 12 122801586A> T null E D 295 295 missense 0.003 benign 0.3 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs761358663 12q24.31 12 122801586A> C null E D 295 295 missense 0.003 benign 0.3 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1370289900 12q24.31 12 122801585A> G null E G 295 295 missense 0.003 benign 0.15 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1263972951 12q24.31 12 122801584G> A null E K 295 295 missense 0.234 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1263972951 12q24.31 12 122801584G> C null E Q 295 295 missense 0.369 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1197723509 12q24.31 12 122801587A> T null K * 296 296 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1435900488 12q24.31 12 122801588A> T null K M 296 296 missense 0.912 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1280923985 12q24.31 12 122801589G> T null K N 296 296 missense 0.714 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1412158291 12q24.31 12 122801595T> G null D E 298 298 missense 0.067 benign 0.16 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1196512393 12q24.31 12 122801594A> G null D G 298 298 missense 0.453 possibly damaging 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs767122360 12q24.31 12 122801597T> C null V A 299 299 missense 0.0 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs549775391 12q24.31 12 122801596G> A null V I 299 299 missense 0.001 benign 0.36 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs755888041 12q24.31 12 122801602T> C null C R 301 301 missense 0.316 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1293508547 12q24.31 12 122801605C> T null Q * 302 302 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1301334181 12q24.31 12 122801608G> A null D N 303 303 missense 0.856 possibly damaging 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs753671216 12q24.31 12 122801611C> G null Q E 304 304 missense 0.023 benign 0.86 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs754830884 12q24.31 12 122801612A> G null Q R 304 304 missense 0.001 benign 0.73 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1340003930 12q24.31 12 122801620A> G null R G 307 307 missense 0.121 benign 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs778931723 12q24.31 12 122801621G> T null R M 307 307 missense 0.053 benign 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,TOPMed,gnomAD rs145950256 12q24.31 12 122801622G> C null R S 307 307 missense 0.011 benign 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs772319364 12q24.31 12 122801626G> T null E * 309 309 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs772319364 12q24.31 12 122801626G> A null E K 309 309 missense 0.158 benign 0.2 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1593808529 12q24.31 12 122801630T> C null I T 310 310 missense 0.0 benign 0.2 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1258492593 12q24.31 12 122801633C> T null S L 311 311 missense 0.067 benign 0.27 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1593808550 12q24.31 12 122801635T> G null C G 312 312 missense 0.124 benign 0.09 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs778139001 12q24.31 12 122801636G> A null C Y 312 312 missense 0.003 benign 0.28 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs747294737 12q24.31 12 122801639G> T null C F 313 313 missense 0.082 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs771200702 12q24.31 12 122801646A> C null K N 315 315 missense 0.003 benign 0.15 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs776798019 12q24.31 12 122801648A> G null N S 316 316 missense 0.009 benign 0.59 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs923962912 12q24.31 12 122801654C> T null A V 318 318 missense 0.006 benign 0.18 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs990690474 12q24.31 12 122801656T> C null C R 319 319 missense 0.461 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs759979825 12q24.31 12 122801659C> G null L V 320 320 missense 0.006 benign 0.43 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1375278557 12q24.31 12 122801662G> T null G C 321 321 missense 0.874 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,TOPMed,gnomAD rs569908909 cosmic curated [Cosmic]: large_intestine pubmed:22810696,cosmic_study:376 12q24.31 12 122801665G> A null E K 322 322 0.0002 missense 0.031 benign 0.06 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs376779932 12q24.31 12 122801669G> C null S T 323 323 missense 0.121 benign 0.2 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs530858736 12q24.31 12 122801672G> A null G D 324 324 0.0002 missense 0.003 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs767069379 12q24.31 12 122801675T> C null M T 325 325 missense 0.001 benign 0.5 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1294234465 12q24.31 12 122801674A> G null M V 325 325 missense 0.0 benign 0.84 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,TOPMed,gnomAD rs138584723 12q24.31 12 122801678G> A null C Y 326 326 missense 0.007 benign 0.27 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1301129720 12q24.31 12 122801687A> G null K R 329 329 missense 0.013 benign 0.15 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs749946854 12q24.31 12 122801696A> G null H R 332 332 missense 0.046 benign 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs776373958 12q24.31 12 122801699C> T null P L 333 333 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1331331167 12q24.31 12 122801702G> A null S N 334 334 missense 0.797 possibly damaging 0.14 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1331331167 12q24.31 12 122801702G> C null S T 334 334 missense 0.795 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC rs370139805 12q24.31 12 122801711T> C null I T 337 337 missense 0.23 benign 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1204734388 12q24.31 12 122801714T> C null I T 338 338 missense 0.306 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1384181624 12q24.31 12 122801713A> G null I V 338 338 missense 0.013 benign 0.54 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141689290 12q24.31 12 122801722C> G null P A 341 341 0.000998 missense 0.352 benign 0.05 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,TOPMed rs376712102 12q24.31 12 122801723C> T null P L 341 341 missense 0.039 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141689290 12q24.31 12 122801722C> T null P S 341 341 0.000998 missense 0.116 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs747092493 12q24.31 12 122801725G> A null G S 342 342 missense 0.357 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1455025486 12q24.31 12 122801728C> T null H Y 343 343 missense 0.003 benign 0.3 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs781503880 12q24.31 12 122801731A> G null M V 344 344 missense 0.003 benign 0.49 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371690932 12q24.31 12 122801739C> G null D E 346 346 0.0002 missense 0.998 probably damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1447819666 12q24.31 12 122801738A> G null D G 346 346 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs75175797 12q24.31 12 122801740G> C null V L 347 347 0.005391 missense 0.005 benign 0.27 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs75175797 12q24.31 12 122801740G> T null V L 347 347 0.005391 missense 0.005 benign 0.27 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs75175797 12q24.31 12 122801740G> A null V M 347 347 0.005391 missense 0.014 benign 0.24 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1388792229 12q24.31 12 122801743G> A null E K 348 348 missense 0.356 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs769167318 12q24.31 12 122801746T> G null W G 349 349 missense 0.041 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs772662041 12q24.31 12 122801751G> A null M I 350 350 missense 0.011 benign 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs896847842 12q24.31 12 122801749A> G null M V 350 350 missense 0.047 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs760263928 12q24.31 12 122801753G> A null S N 351 351 missense 0.001 benign 0.51 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs993855750 12q24.31 12 122801763G> C null K N 354 354 missense 0.067 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1303173416 12q24.31 12 122801764C> A null P T 355 355 missense 0.935 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1314859675 12q24.31 12 122801768C> T null S F 356 356 missense 0.884 possibly damaging 0.13 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1056018084 12q24.31 12 122801767T> A null S T 356 356 missense 0.439 benign 0.17 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs765916160 12q24.31 12 122801775G> A null M I 358 358 missense 0.009 benign 0.24 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs776393227 12q24.31 12 122801777A> G null Q R 359 359 missense 0.006 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs759236904 12q24.31 12 122801779A> G null R G 360 360 missense 0.797 possibly damaging 0.21 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1316083322 12q24.31 12 122801783T> C null I T 361 361 missense 0.02 benign 0.11 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs765144942 12q24.31 12 122801788C> T null R C 363 363 missense 0.809 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1252384447 12q24.31 12 122801789G> A null R H 363 363 missense 0.007 benign 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs752542291 12q24.31 12 122801791C> T null L F 364 364 missense 0.063 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1566080484 12q24.31 12 122801794A> G null K E 365 365 missense 0.359 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1263719641 12q24.31 12 122801800G> A null G R 367 367 missense 0.101 benign 0.15 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs758351015 12q24.31 12 122801804G> T null C F 368 368 missense 0.93 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1462577584 12q24.31 12 122801803T> A null C S 368 368 missense 0.579 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1566080507 12q24.31 12 122801805C> G null C W 368 368 missense 0.975 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs764145983 12q24.31 12 122801807C> T null T I 369 369 missense 0.766 possibly damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs751645409 12q24.31 12 122801810G> A null C Y 370 370 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,gnomAD rs199891405 12q24.31 12 122801817A> C null E D 372 372 0.0002 missense 0.288 benign 0.38 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,gnomAD rs199891405 12q24.31 12 122801817A> T null E D 372 372 0.0002 missense 0.288 benign 0.38 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs746171063 12q24.31 12 122801838T> A null H Q 379 379 missense 0.154 benign 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs781261329 12q24.31 12 122801837A> G null H R 379 379 missense 0.005 benign 0.11 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs756298234 12q24.31 12 122801839G> C null D H 380 380 missense 0.003 benign 0.2 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs780340207 12q24.31 12 122801846C> T null P L 382 382 missense 0.0 benign 0.59 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1209478649 12q24.31 12 122806159T> C null I T 387 387 missense 0.007 benign 0.49 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1185400083 12q24.31 12 122806168A> C null Q P 390 390 missense 0.862 possibly damaging 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs780693155 12q24.31 12 122806170G> T null D Y 391 391 missense 0.055 benign 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs868849647 12q24.31 12 122806176C> A null H N 393 393 missense 0.167 benign 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1593815471 12q24.31 12 122806178C> G null H Q 393 393 missense 0.012 benign 0.2 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1183107572 12q24.31 12 122806180C> G null S C 394 394 missense 0.001 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,dbSNP,gnomAD rs17855031 pubmed:15489334 12q24.31 12 122801327C> A null T K 394 394 missense 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1305466269 12q24.31 12 122806179T> C null S P 394 394 missense 0.564 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1270674925 12q24.31 12 122806186G> C null G A 396 396 missense 0.475 possibly damaging 0.19 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1593815503 12q24.31 12 122806185G> T null G C 396 396 missense 0.944 probably damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1230569020 12q24.31 12 122806189C> T null S F 397 397 missense 0.824 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1380341053 12q24.31 12 122806195A> C null K T 399 399 missense 0.346 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1427876271 12q24.31 12 122806211A> T null E D 404 404 missense 0.21 benign 0.05 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142626019 12q24.31 12 122806219C> T null T M 407 407 0.0002 missense 0.754 possibly damaging 0.09 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142626019 12q24.31 12 122806219C> G null T R 407 407 0.0002 missense 0.031 benign 0.11 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs775318071 12q24.31 12 122806225C> G null S C 409 409 missense 0.639 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs762816058 12q24.31 12 122806234A> G null N S 412 412 missense 0.009 benign 0.1 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1593815596 12q24.31 12 122806241G> T null K N 414 414 missense 0.146 benign 0.09 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs768643588 12q24.31 12 122806245T> G null S A 416 416 missense 0.003 benign 0.26 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs774024082 12q24.31 12 122806249C> T null P L 417 417 missense 0.087 benign 0.12 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs761755699 12q24.31 12 122806252C> A null T K 418 418 missense 0.0 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs761755699 cosmic curated [Cosmic]: large_intestine cosmic_study:376 12q24.31 12 122806252C> T null T M 418 418 missense 0.36 benign 0.05 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs750476793 12q24.31 12 122806257T> G null L V 420 420 missense 0.359 benign 0.1 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1156834714 12q24.31 12 122806261T> G null L * 421 421 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1425548020 12q24.31 12 122806263A> T null I F 422 422 missense 0.0 benign 0.37 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs983940383 12q24.31 12 122806264T> C null I T 422 422 missense 0.003 benign 0.42 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1182759390 12q24.31 12 122806267A> G null Y C 423 423 missense 0.0 benign 0.18 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1439491684 12q24.31 12 122806269A> C null K Q 424 424 missense 0.372 benign 0.13 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs760784616 12q24.31 12 122806270A> C null K T 424 424 missense 0.366 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,gnomAD rs201866869 12q24.31 12 122806275G> T null A S 426 426 0.000599 missense 0.009 benign 0.3 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1015039949 12q24.31 12 122806278C> A null P T 427 427 missense 0.001 benign 0.16 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1566083003 12q24.31 12 122806284T> G null F V 429 429 missense 0.003 benign 0.53 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs754116643 12q24.31 12 122806288A> G null N S 430 430 missense 0.0 benign 0.51 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs553772107 12q24.31 12 122806293A> G null K E 432 432 0.001597 missense 0.164 benign 0.11 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs779269736 12q24.31 12 122806294A> G null K R 432 432 missense 0.23 benign 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1464105304 cosmic curated [Cosmic]: kidney cosmic_study:416 12q24.31 12 122813270G> A null A T 433 433 missense 0.003 benign 0.36 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs766513080 12q24.31 12 122813271C> T null A V 433 433 missense 0.0 benign 0.59 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs753919054 12q24.31 12 122813274C> T null S L 434 434 missense 0.006 benign 0.62 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1198034185 12q24.31 12 122813276A> G null I V 435 435 missense 0.0 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1247090487 12q24.31 12 122813279G> T null V L 436 436 missense 0.036 benign 0.35 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs765398059 12q24.31 12 122813283T> C null L S 437 437 missense 0.294 benign 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1593828478 12q24.31 12 122813282T> G null L V 437 437 missense 0.164 benign 0.15 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1411490167 12q24.31 12 122813286C> A null P H 438 438 missense 0.267 benign 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs753064099 12q24.31 12 122813285C> T null P S 438 438 missense 0.0 benign 0.54 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs764636974 12q24.31 12 122813291C> G null Q E 440 440 missense 0.969 probably damaging 0.13 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1392322022 12q24.31 12 122813292A> G null Q R 440 440 missense 0.979 probably damaging 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1305031182 12q24.31 12 122813297G> T null D Y 442 442 missense 0.863 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs752165996 12q24.31 12 122813304C> T null S L 444 444 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs779657244 12q24.31 12 122813307C> T null P L 445 445 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs748831792 12q24.31 12 122813309A> G null T A 446 446 missense 0.996 probably damaging 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs200979651 12q24.31 12 122813310C> T null T M 446 446 0.000399 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1228554163 12q24.31 12 122813312A> G null S G 447 447 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1331968847 12q24.31 12 122813317G> T null K N 448 448 missense 0.964 probably damaging 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1373961142 12q24.31 12 122813321C> T null Q * 450 450 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs371482324 12q24.31 12 122813324C> T null R C 451 451 missense 0.999 probably damaging 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs773196241 12q24.31 12 122813325G> A null R H 451 451 missense 0.999 probably damaging 0.21 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs746880817 cosmic curated [Cosmic]: large_intestine cosmic_study:376 12q24.31 12 122813334C> T null A V 454 454 missense 0.998 probably damaging 0.0 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1473058028 12q24.31 12 122813336G> T null E * 455 455 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1473058028 12q24.31 12 122813336G> A null E K 455 455 missense 0.997 probably damaging 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1043623162 12q24.31 12 122813340C> G null S C 456 456 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1043623162 12q24.31 12 122813340C> T null S F 456 456 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs776640583 12q24.31 12 122813342C> T null R C 457 457 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs759641693 cosmic curated [Cosmic]: large_intestine cosmic_study:376 12q24.31 12 122813343G> A null R H 457 457 missense 0.999 probably damaging 0.0 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs765465257 12q24.31 12 122813349T> C null M T 459 459 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs55716280 12q24.31 12 122813355C> T null T M 461 461 0.02576 missense 0.963 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs775619984 12q24.31 12 122813354A> C null T P 461 461 missense 0.925 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs751990186 12q24.31 12 122813359C> A null D E 462 462 missense 0.34 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs991342989 12q24.31 12 122813363G> C null E Q 464 464 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1307816236 12q24.31 12 122813370G> A null S N 466 466 missense 0.189 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs757793011 12q24.31 12 122813372A> C null T P 467 467 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,gnomAD rs143536297 12q24.31 12 122813382C> T null P L 470 470 0.000399 missense 0.999 probably damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,gnomAD rs143536297 12q24.31 12 122813382C> G null P R 470 470 0.000399 missense 0.999 probably damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs376927819 12q24.31 12 122813385T> C null I T 471 471 missense 0.295 benign 0.11 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1174510283 12q24.31 12 122813390C> G null H D 473 473 missense 0.015 benign 0.53 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1566087271 12q24.31 12 122813391A> C null H P 473 473 missense 0.0 benign 0.22 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs374420339 12q24.31 12 122813392T> A null H Q 473 473 missense 0.069 benign 0.16 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1358381726 12q24.31 12 122813395G> C null E D 474 474 missense 0.009 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1344996922 12q24.31 12 122813394A> G null E G 474 474 missense 0.311 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1593828844 12q24.31 12 122813400T> C null L P 476 476 missense 0.003 benign 0.24 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs947498529 12q24.31 12 122813403C> T null T I 477 477 missense 0.101 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1193960227 12q24.31 12 122813408A> C null S R 479 479 missense 0.474 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1273671675 12q24.31 12 122813414A> G null T A 481 481 missense 0.01 benign 0.75 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs778614854 12q24.31 12 122813415C> T null T I 481 481 missense 0.025 benign 0.2 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs778614854 12q24.31 12 122813415C> A null T K 481 481 missense 0.0 benign 0.99 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs747822993 12q24.31 12 122813417A> G null N D 482 482 missense 0.037 benign 0.27 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1220054253 12q24.31 12 122826425T> G null S A 484 484 missense 0.0 benign 0.17 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs372780491 12q24.31 12 122826429A> G null H R 485 485 missense 0.0 benign 0.63 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs772436650 12q24.31 12 122826434T> C null C R 487 487 missense 0.001 benign 0.16 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1566093980 12q24.31 12 122826435G> A null C Y 487 487 missense 0.0 benign 0.19 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs773400376 12q24.31 12 122826438G> A null G E 488 488 missense 0.466 possibly damaging 0.29 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1471426192 12q24.31 12 122826440A> G null R G 489 489 missense 0.009 benign 0.4 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1566093999 12q24.31 12 122826446A> G null K E 491 491 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs747430347 12q24.31 12 122826447A> G null K R 491 491 missense 0.003 benign 0.51 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1433446117 12q24.31 12 122826450C> G null A G 492 492 missense 0.35 benign 0.07 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs777241229 12q24.31 12 122826458A> T null N Y 495 495 missense 0.127 benign 0.02 deleterious - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1349237675 12q24.31 12 122826462C> T null T I 496 496 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1190119692 12q24.31 12 122826461A> C null T P 496 496 missense 0.466 possibly damaging 0.0 deleterious - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1458285863 12q24.31 12 122826464G> A null E K 497 497 missense 0.0 benign 0.13 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP rs866509684 12q24.31 12 122826468du p null * W 498 498 stop lost 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs773544185 6p21.33 6 31410770C> G null L V 3 3 missense 0.998 probably damaging 0.04 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs17200207 6p21.33 6 31410773G> A null A T 4 4 missense 0.031 benign 0.2 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1190250981 6p21.33 6 31410777A> C null H P 5 5 missense 0.879 possibly damaging 0.11 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1425663015 6p21.33 6 31410776C> T null H Y 5 5 missense 0.024 benign 0.13 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1476851649 6p21.33 6 31410779A> G null I V 6 6 missense 0.12 benign 0.02 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs766489634 6p21.33 6 31410782A> G null K E 7 7 missense 0.015 benign 0.2 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1188647529 6p21.33 6 31410789A> G null Q R 9 9 missense 0.196 benign 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs17200214 6p21.33 6 31410795A> G null E G 11 11 missense 0.0 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs992637981 6p21.33 6 31411076G> C null L F 13 13 missense 0.999 probably damaging 0.13 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs959455053 6p21.33 6 31411075T> C null L S 13 13 missense 1.0 probably damaging 0.21 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs773242477 6p21.33 6 31411077C> T null H Y 14 14 missense 0.974 probably damaging 0.06 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs41544623 6p21.33 6 31411083C> T null L F 16 16 missense 0.995 probably damaging 0.09 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41558312 6p21.33 6 31411087A> T null Q L 17 17 0.03175 missense 0.652 possibly damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41558312 6p21.33 6 31411087A> G null Q R 17 17 0.03175 missense 0.041 benign 0.01 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs770954179 6p21.33 6 31411094T> G null I M 19 19 missense 0.993 probably damaging 0.32 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1250981471 6p21.33 6 31411096G> A null R K 20 20 missense 0.003 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs776673195 6p21.33 6 31411097G> C null R S 20 20 missense 0.188 benign 0.14 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs759656020 6p21.33 6 31411098G> T null V F 21 21 missense 0.638 possibly damaging 0.48 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs759656020 6p21.33 6 31411098G> A null V I 21 21 missense 0.006 benign 0.45 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1251025303 6p21.33 6 31411101T> A null C S 22 22 missense 0.961 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1474745456 6p21.33 6 31411111A> G null H R 25 25 missense 0.751 possibly damaging 0.36 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs190052924 6p21.33 6 31411116G> A null D N 27 27 0.000399 missense 0.999 probably damaging 0.05 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs751553245 6p21.33 6 31411120A> G null N S 28 28 missense 0.0 benign 0.44 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1348459863 6p21.33 6 31411122A> G null S G 29 29 missense 0.927 probably damaging 0.31 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1220578744 6p21.33 6 31411124C> G null S R 29 29 missense 0.994 probably damaging 0.45 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1169067930 6p21.33 6 31411125A> T null T S 30 30 missense 0.993 probably damaging 0.25 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs41557113 6p21.33 6 31411129G> A null R K 31 31 missense 0.012 benign 0.18 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1352250501 6p21.33 6 31411131A> G null S G 32 32 missense 0.006 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1463234741 6p21.33 6 31411132G> T null S I 32 32 missense 0.933 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1387031240 6p21.33 6 31411137C> G null Q E 34 34 missense 0.215 benign 0.2 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs761453958 6p21.33 6 31411139G> C null Q H 34 34 missense 0.795 possibly damaging 0.13 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1298367173 6p21.33 6 31411138A> G null Q R 34 34 missense 0.063 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed rs767344473 6p21.33 6 31411142T> A null H Q 35 35 missense 0.998 probably damaging 0.14 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1414504614 6p21.33 6 31411140C> T null H Y 35 35 missense 0.998 probably damaging 0.5 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs750002665 6p21.33 6 31411143T> C null F L 36 36 missense 0.997 probably damaging 0.25 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs755812607 6p21.33 6 31411147A> G null Y C 37 37 missense 0.986 probably damaging 0.26 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1244824627 6p21.33 6 31411146T> C null Y H 37 37 missense 0.981 probably damaging 0.35 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1489339401 6p21.33 6 31411150A> G null Y C 38 38 missense 0.994 probably damaging 0.07 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1295029117 6p21.33 6 31411152G> A null D N 39 39 missense 0.013 benign 0.23 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41556715 6p21.33 6 31411155G> A null G R 40 40 0.01418 missense 0.963 probably damaging 0.06 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs779505758 6p21.33 6 31411176A> C null N H 47 47 missense 0.972 probably damaging 0.59 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1051790 6p21.33 6 31411179C> A null L M 48 48 0.2183 missense 1.0 probably damaging 0.18 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1051790 6p21.33 6 31411179C> G null L V 48 48 0.2183 missense 0.998 probably damaging 0.31 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1259550477 6p21.33 6 31411182G> A null E K 49 49 missense 0.257 benign 0.21 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1432843151 6p21.33 6 31411186C> T null T I 50 50 missense 0.937 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs41539919 6p21.33 6 31411185A> T null T S 50 50 0.000998 missense 0.349 benign 0.08 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1051791 6p21.33 6 31411188G> A null E K 51 51 0.01178 missense 0.097 benign 0.29 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1051791 6p21.33 6 31411188G> C null E Q 51 51 0.01178 missense 0.006 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs776908494 6p21.33 6 31411194T> G null W G 53 53 missense 0.193 benign 0.03 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs745932785 6p21.33 6 31411195G> C null W S 53 53 missense 0.018 benign 0.04 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1170743708 6p21.33 6 31411198C> T null T I 54 54 missense 0.777 possibly damaging 0.02 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1051792 6p21.33 6 31411200G> A null V M 55 55 0.3648 missense 0.478 possibly damaging 0.07 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1311502268 6p21.33 6 31411203C> T null P S 56 56 missense 0.022 benign 0.23 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1466150680 6p21.33 6 31411212T> C null S P 59 59 missense 0.966 probably damaging 0.01 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1270105030 6p21.33 6 31411234T> C null M T 66 66 missense 0.17 benign 0.11 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1268670925 6p21.33 6 31411233A> G null M V 66 66 missense 0.001 benign 0.36 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs3819269 6p21.33 6 31411239G> A null V I 68 68 0.000998 missense 0.001 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1298616628 6p21.33 6 31411243G> C null R T 69 69 missense 0.007 benign 0.34 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs767167060 6p21.33 6 31411252T> G null L W 72 72 missense 0.031 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41560824 6p21.33 6 31411266A> G null M V 77 77 0.01378 missense 0.003 benign 0.34 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs772852827 6p21.33 6 31411271G> C null K N 78 78 missense 0.939 probably damaging 0.02 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1486562745 6p21.33 6 31411275A> G null K E 80 80 missense 0.144 benign 0.01 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs760585199 6p21.33 6 31411279C> T null T I 81 81 missense 0.999 probably damaging 0.23 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs3819268 6p21.33 6 31411282A> T null H L 82 82 0.02835 missense 0.569 possibly damaging 0.02 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs3819268 6p21.33 6 31411282A> G null H R 82 82 0.02835 missense 0.027 benign 0.04 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs766116357 6p21.33 6 31411289C> A null H Q 84 84 missense 0.149 benign 0.31 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1452258258 6p21.33 6 31411288A> G null H R 84 84 missense 0.001 benign 0.38 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs753096505 6p21.33 6 31411290G> T null A S 85 85 missense 0.555 possibly damaging 0.49 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs753096505 6p21.33 6 31411290G> A null A T 85 85 missense 0.04 benign 0.48 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs751182756 6p21.33 6 31411298T> A null H Q 87 87 missense 0.003 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs751182756 6p21.33 6 31411298T> G null H Q 87 87 missense 0.003 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1465672558 6p21.33 6 31411296C> T null H Y 87 87 missense 0.285 benign 0.03 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs747399661 6p21.33 6 31411314G> A null E K 93 93 missense 0.003 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1450158882 6p21.33 6 31411317C> A null L I 94 94 missense 0.998 probably damaging 0.01 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1321374008 6p21.33 6 31411318T> C null L P 94 94 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs781330960 6p21.33 6 31411321G> A null R Q 95 95 missense 0.009 benign 0.72 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs757679954 6p21.33 6 31411320C> T null R W 95 95 missense 0.021 benign 0.13 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs746091244 6p21.33 6 31411323C> T null R * 96 96 stop gained 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs769820263 6p21.33 6 31411324G> A null R Q 96 96 missense 0.026 benign 0.49 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1445245203 6p21.33 6 31411333A> G null E G 99 99 missense 0.381 benign 0.16 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1051794 6p21.33 6 31411332G> A null E K 99 99 0.3646 missense 0.018 benign 0.94 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1209271029 6p21.33 6 31411336C> A null S Y 100 100 missense 0.788 possibly damaging 0.01 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1131896 6p21.33 6 31411338G> C null G R 101 101 0.3454 missense 0.082 benign 0.38 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1131896 6p21.33 6 31411338G> A null G S 101 101 0.3454 missense 0.084 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs530334547 6p21.33 6 31411342T> C null V A 102 102 0.0002 missense 0.011 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41549718 6p21.33 6 31411341G> A null V I 102 102 0.001997 missense 0.001 benign 0.5 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs759284709 6p21.33 6 31411344G> A null V I 103 103 missense 0.069 benign 0.42 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs764851411 6p21.33 6 31411347C> A null L M 104 104 missense 0.522 possibly damaging 0.35 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs1562245849 6p21.33 6 31411348T> C null L P 104 104 missense 0.692 possibly damaging 0.14 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1296258723 6p21.33 6 31411350A> T null R W 105 105 missense 0.991 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1131897 6p21.33 6 31411357C> G null T R 107 107 0.1222 missense 0.044 benign 0.02 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs539007016 6p21.33 6 31411359G> C null V L 108 108 missense 0.101 benign 0.2 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs539007016 6p21.33 6 31411359G> A null V M 108 108 missense 0.874 possibly damaging 0.03 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs762470610 6p21.33 6 31411953C> T null P L 110 110 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1338149216 6p21.33 6 31411957G> A null M I 111 111 missense 0.254 benign 0.16 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs763515128 6p21.33 6 31411970C> T null R C 116 116 missense 0.019 benign 0.16 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs752018470 6p21.33 6 31411971G> A null R H 116 116 missense 0.005 benign 0.55 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs752018470 6p21.33 6 31411971G> T null R L 116 116 missense 0.232 benign 0.66 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs763515128 6p21.33 6 31411970C> A null R S 116 116 missense 0.489 possibly damaging 0.42 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1206237939 6p21.33 6 31411974G> T null S I 117 117 missense 0.466 possibly damaging 0.05 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1206237939 6p21.33 6 31411974G> C null S T 117 117 missense 0.096 benign 0.19 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1013523501 6p21.33 6 31411978G> C null E D 118 118 missense 0.127 benign 0.11 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs376912874 6p21.33 6 31411976G> A null E K 118 118 missense 0.02 benign 0.15 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1025201583 6p21.33 6 31411980C> T null A V 119 119 missense 0.003 benign 0.17 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1475097041 6p21.33 6 31411997A> C null T P 125 125 missense 0.771 possibly damaging 0.08 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs536431393 6p21.33 6 31412000G> A null V M 126 126 0.0002 missense 0.264 benign 0.2 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1430182925 6p21.33 6 31412004C> T null T I 127 127 missense 1.0 probably damaging 0.02 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs755047324 6p21.33 6 31412009A> G null R G 129 129 missense 0.413 benign 0.09 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs778882093 6p21.33 6 31412012G> A null A T 130 130 missense 0.999 probably damaging 0.03 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs1131898 6p21.33 6 31412018A> G null S G 132 132 0.364 missense 0.0 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs386699191 6p21.33 6 31412017_31412018in v null S G 132 132 missense 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs41546915 6p21.33 6 31412025A> G null Y C 134 134 0.000599 missense 0.999 probably damaging 0.02 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1271595816 6p21.33 6 31412028C> A null P H 135 135 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs775138518 6p21.33 6 31412031G> A null R Q 136 136 missense 0.003 benign 0.43 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs1051798 6p21.33 6 31412030C> T null R W 136 136 0.364 missense 0.0 benign 0.07 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC rs762541518 6p21.33 6 31412034A> T null N I 137 137 missense 0.938 probably damaging 0.04 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC rs762541518 6p21.33 6 31412034A> G null N S 137 137 missense 0.249 benign 0.04 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC rs768160048 6p21.33 6 31412037T> C null I T 138 138 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs1140700 6p21.33 6 31412040T> A null I K 139 139 0.4175 missense 0.062 benign 0.01 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1252810433 6p21.33 6 31412039A> C null I L 139 139 missense 0.015 benign 0.01 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1257396624 6p21.33 6 31412041A> G null I M 139 139 missense 0.382 benign 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs1140700 6p21.33 6 31412040T> C null I T 139 139 0.4175 missense 0.0 benign 0.47 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1191051008 6p21.33 6 31412043T> C null L P 140 140 missense 0.998 probably damaging 0.05 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs761352626 6p21.33 6 31412042C> G null L V 140 140 missense 0.791 possibly damaging 0.49 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs1051799 6p21.33 6 31412046C> A null T N 141 141 0.364 missense 0.023 benign 0.02 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs1051799 6p21.33 6 31412046C> G null T S 141 141 0.364 missense 0.015 benign 0.03 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1450365983 6p21.33 6 31412050G> C null W C 142 142 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs761040624 6p21.33 6 31412051C> T null R C 143 143 missense 0.099 benign 0.16 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs766687346 6p21.33 6 31412052G> A null R H 143 143 missense 0.948 probably damaging 0.46 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs754045239 6p21.33 6 31412057G> C null D H 145 145 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs754045239 6p21.33 6 31412057G> A null D N 145 145 missense 0.999 probably damaging 0.03 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1384102922 6p21.33 6 31412060G> C null G R 146 146 missense 1.0 probably damaging 0.02 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs574970221 6p21.33 6 31412064T> C null V A 147 147 0.0002 missense 0.335 benign 0.52 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs574970221 6p21.33 6 31412064T> A null V E 147 147 0.0002 missense 0.017 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs41540613 6p21.33 6 31412063G> C null V L 147 147 0.01298 missense 0.043 benign 0.18 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1235831939 6p21.33 6 31412079A> G null D G 152 152 missense 0.466 possibly damaging 0.13 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs542426798 6p21.33 6 31412078G> A null D N 152 152 0.000399 missense 0.012 benign 0.12 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs17200344 6p21.33 6 31412084C> G null Q E 154 154 missense 0.995 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs781219985 6p21.33 6 31412088A> G null Q R 155 155 missense 0.011 benign 0.09 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs72558175 6p21.33 6 31412091G> T null W L 156 156 0.000998 missense 0.687 possibly damaging 0.65 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs72558175 6p21.33 6 31412091G> C null W S 156 156 0.000998 missense 0.097 benign 0.55 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1465390089 6p21.33 6 31412094G> A null G E 157 157 missense 0.095 benign 0.14 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs1582682524 6p21.33 6 31412093G> A null G R 157 157 missense 0.209 benign 0.11 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1465390089 6p21.33 6 31412094G> T null G V 157 157 missense 0.941 probably damaging 0.07 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs749152285 6p21.33 6 31412096G> C null D H 158 158 missense 0.907 possibly damaging 0.03 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs749152285 6p21.33 6 31412096G> A null D N 158 158 missense 0.327 benign 0.13 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1251297198 6p21.33 6 31412100T> G null V G 159 159 missense 0.966 probably damaging 0.02 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1434715127 6p21.33 6 31412108G> T null D Y 162 162 missense 1.0 probably damaging 0.53 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1199373713 6p21.33 6 31412112G> A null G E 163 163 missense 0.012 benign 0.24 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1161268424 6p21.33 6 31412118G> A null G E 165 165 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs747641299 6p21.33 6 31412124A> G null Y C 167 167 missense 0.999 probably damaging 0.1 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1460407434 6p21.33 6 31412123T> C null Y H 167 167 missense 0.999 probably damaging 0.02 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs771582156 6p21.33 6 31412126C> A null Q K 168 168 missense 0.25 benign 0.08 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1386966909 6p21.33 6 31412130C> T null T I 169 169 missense 1.0 probably damaging 0.04 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1386966909 6p21.33 6 31412130C> A null T N 169 169 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs773671233 6p21.33 6 31412134G> A null W * 170 170 stop gained 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1360840387 6p21.33 6 31412138G> T null A S 172 172 missense 0.707 possibly damaging 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs766959751 6p21.33 6 31412150T> C null C R 176 176 missense 0.003 benign 0.33 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1270511810 6p21.33 6 31412151G> A null C Y 176 176 missense 0.712 possibly damaging 0.01 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs41554616 6p21.33 6 31412153C> T null R * 177 177 0.01578 stop gained 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs41554616 6p21.33 6 31412153C> G null R G 177 177 0.01578 missense 0.219 benign 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs1063635 6p21.33 6 31412154G> C null R P 177 177 0.4167 missense 0.447 possibly damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs1063635 6p21.33 6 31412154G> A null R Q 177 177 0.4167 missense 0.001 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs765546742 6p21.33 6 31412163A> C null E A 180 180 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs765546742 6p21.33 6 31412163A> G null E G 180 180 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1249630212 6p21.33 6 31412169G> A null R K 182 182 missense 0.025 benign 0.13 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs41557614 6p21.33 6 31412170G> T null R S 182 182 0.001398 missense 0.531 possibly damaging 0.01 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs758488656 6p21.33 6 31412172T> C null F S 183 183 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1162230694 6p21.33 6 31412179C> A null C * 185 185 stop gained 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1458153311 6p21.33 6 31412184T> A null M K 187 187 missense 0.931 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1351083786 6p21.33 6 31412183A> G null M V 187 187 missense 0.007 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ESP,ExAC,TOPMed,gnomAD rs377047105 6p21.33 6 31412195G> A null G R 191 191 missense 0.332 benign 0.08 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs949103320 6p21.33 6 31412201C> G null H D 193 193 missense 0.517 possibly damaging 0.01 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1280204065 6p21.33 6 31412202A> G null H R 193 193 missense 0.324 benign 0.05 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs61759927 6p21.33 6 31412204A> G null S G 194 194 missense 0.006 benign 0.11 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs749031460 6p21.33 6 31412208C> T null T I 195 195 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41553616 6p21.33 6 31412213C> G null P A 197 197 0.01537 missense 0.358 benign 0.21 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs778476996 6p21.33 6 31412214C> G null P R 197 197 missense 0.963 probably damaging 0.02 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1250907016 6p21.33 6 31412220C> T null P L 199 199 missense 1.0 probably damaging 0.03 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs775972045 6p21.33 6 31412331T> C null V A 203 203 missense 0.012 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1318659802 6p21.33 6 31412330G> A null V M 203 203 missense 0.847 possibly damaging 0.11 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs372677694 6p21.33 6 31412336G> A null V M 205 205 0.000399 missense 0.945 probably damaging 0.03 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1346884983 6p21.33 6 31412345A> G null S G 208 208 missense 0.795 possibly damaging 0.05 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1217220852 6p21.33 6 31412346G> A null S N 208 208 missense 0.81 possibly damaging 0.1 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,gnomAD rs553060235 6p21.33 6 31412348C> T null H Y 209 209 0.0002 missense 0.18 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1214983287 6p21.33 6 31412353G> A null W * 210 210 stop gained 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1258038232 6p21.33 6 31412351T> G null W G 210 210 missense 0.555 possibly damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs767638328 6p21.33 6 31412364A> G null H R 214 214 missense 0.065 benign 0.37 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs201198334 6p21.33 6 31412369T> G null S A 216 216 missense 0.006 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs199843678 6p21.33 6 31412376T> C null V A 218 218 missense 0.0 benign 0.38 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC rs759449533 6p21.33 6 31412375G> T null V F 218 218 missense 0.282 benign 0.12 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A dbSNP rs41293539 6p21.33 6 31412384_31412385insCTGCTGCTGC T null A null 220 220 frameshift 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A dbSNP rs41293539 6p21.33 6 31412384_31412385insC T null A null 220 220 frameshift 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A dbSNP rs138201170 6p21.33 6 31412381GCTG[1 ] null G null 221 221 frameshift 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs879119541 6p21.33 6 31412385G> C null G A 221 221 missense 0.039 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs1582684002 6p21.33 6 31412384G> T null G C 221 221 missense 0.373 benign 0.25 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs1582684002 6p21.33 6 31412384G> C null G R 221 221 missense 0.0 benign 0.55 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1386560148 6p21.33 6 31412387T> C null C R 222 222 missense 0.14 benign 0.06 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs1582684187 6p21.33 6 31412388G> C null C S 222 222 missense 0.096 benign 0.08 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs869101911 6p21.33 6 31412389C> G null C W 222 222 missense 0.709 possibly damaging 0.03 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1321500864 6p21.33 6 31412394A> G null Y C 224 224 missense 0.709 possibly damaging 0.12 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1434548755 6p21.33 6 31412397T> G null F C 225 225 missense 0.0 benign 0.16 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC rs752484557 6p21.33 6 31412396T> C null F L 225 225 missense 0.009 benign 0.38 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs758248388 6p21.33 6 31412405T> G null Y D 228 228 missense 0.096 benign 0.0 deleterious - low confidence 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1395927036 6p21.33 6 31412411T> G null F V 230 230 missense 0.001 benign 0.25 tolerated - low confidence 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs41559920 6p21.33 6 31412414C> A null L I 231 231 missense 0.113 benign 0.16 tolerated - low confidence 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs41559920 6p21.33 6 31412414C> G null L V 231 231 missense 0.02 benign 0.06 tolerated - low confidence 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs41554412 6p21.33 6 31412417T> A null C S 232 232 0.2528 missense 0.876 possibly damaging 0.22 tolerated - low confidence 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs72558178 6p21.33 6 31412418G> A null C Y 232 232 missense 0.935 probably damaging 0.05 tolerated - low confidence 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61738275 6p21.33 6 31412421C> T null P L 233 233 0.2696 missense 0.012 benign 0.0 deleterious - low confidence 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs75417713 6p21.33 6 31412428G> T null L F 235 235 missense 0.067 benign 0.07 tolerated - low confidence 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs41554412 [UniProt]: allele MICA*002, allele MICA*011, allele MICA*020, allele MICA*041, allele MICA*043, allele MICA*046, allele MICA*047, allele MICA*050 and allele MICA*052 6p21.33 6 31412417T> C null R C 329 329 0.2528 missense 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1319149092 6p22.1 6 28271926A> G null T A 3 3 missense 0.005 benign 0.16 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1334683237 6p22.1 6 28271934G> C null L F 5 5 missense 0.023 benign 0.7 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1561873976 6p22.1 6 28271935G> T null V L 6 6 missense 0.009 benign 0.34 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1561873976 6p22.1 6 28271935G> C null V L 6 6 missense 0.009 benign 0.34 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs896465645 6p22.1 6 28271942C> T null A V 8 8 missense 0.012 benign 0.95 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1356948986 6p22.1 6 28271948C> A null S Y 10 10 missense 0.876 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1273703535 6p22.1 6 28271959C> G null L V 14 14 missense 0.121 benign 0.29 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1365115805 6p22.1 6 28271962A> C null N H 15 15 missense 0.932 probably damaging 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs76463649 6p22.1 6 28271963A> G null N S 15 15 0.05132 missense 0.424 benign 0.11 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1581610223 6p22.1 6 28271966T> C null L P 16 16 missense 1.0 probably damaging 0.29 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs773854446 6p22.1 6 28271972A> G null K R 18 18 missense 0.999 probably damaging 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1226330246 6p22.1 6 28271984G> A null R Q 22 22 missense 0.001 benign 0.42 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1472451396 6p22.1 6 28271983C> T null R W 22 22 missense 0.585 possibly damaging 0.19 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1270008484 6p22.1 6 28271986G> A null V I 23 23 missense 0.011 benign 0.58 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1342679600 6p22.1 6 28271993G> C null R T 25 25 missense 0.311 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1465264735 6p22.1 6 28271996A> G null E G 26 26 missense 0.036 benign 0.11 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1581610318 6p22.1 6 28272002A> G null H R 28 28 missense 0.009 benign 0.12 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1482360739 6p22.1 6 28272005A> G null Y C 29 29 missense 0.001 benign 0.19 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1581610332 6p22.1 6 28272011C> T null T I 31 31 missense 0.687 possibly damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1021513786 6p22.1 6 28272019C> T null Q * 34 34 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes rs191270314 6p22.1 6 28272020A> G null Q R 34 34 missense 0.003 benign 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1329825849 6p22.1 6 28272037G> A null G R 40 40 missense 0.022 benign 0.1 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1483921628 6p22.1 6 28272041A> G null N S 41 41 missense 0.01 benign 0.88 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1269904774 6p22.1 6 28272052C> T null L F 45 45 missense 0.047 benign 0.65 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1430178770 6p22.1 6 28272053T> G null L R 45 45 missense 0.819 possibly damaging 0.3 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs772386690 6p22.1 6 28272059A> G null Q R 47 47 missense 0.544 possibly damaging 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs773589771 6p22.1 6 28272064C> T null P S 49 49 missense 0.242 benign 0.1 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1414889825 6p22.1 6 28272067T> A null L M 50 50 missense 0.976 probably damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs761111611 6p22.1 6 28272068T> C null L S 50 50 missense 0.93 probably damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs761111611 6p22.1 6 28272068T> G null L W 50 50 missense 0.992 probably damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1191121043 6p22.1 6 28272076C> G null Q E 53 53 missense 0.306 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1437910002 6p22.1 6 28272078A> T null Q H 53 53 missense 0.862 possibly damaging 0.08 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs563307562 6p22.1 6 28272080T> A null F Y 54 54 0.000399 missense 0.631 possibly damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs574074069 6p22.1 6 28272090G> T null L F 57 57 0.0002 missense 0.919 probably damaging 0.78 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ESP,ExAC,TOPMed,gnomAD rs369207761 6p22.1 6 28272091C> T null R C 58 58 missense 0.018 benign 0.52 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs543136888 6p22.1 6 28272092G> A null R H 58 58 0.0002 missense 0.018 benign 0.05 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs892204811 6p22.1 6 28272096T> A null Y * 59 59 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs892204811 6p22.1 6 28272096T> G null Y * 59 59 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs16893892 6p22.1 6 28272095A> G null Y C 59 59 0.07828 missense 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs16893892 6p22.1 6 28272095A> C null Y S 59 59 0.07828 missense 0.858 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ESP,ExAC,TOPMed,gnomAD rs375716851 6p22.1 6 28272104C> A null T N 62 62 missense 1.0 probably damaging 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1255704499 6p22.1 6 28272115C> T null R * 66 66 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs768841058 6p22.1 6 28272116G> C null R P 66 66 missense 0.791 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs768841058 6p22.1 6 28272116G> A null R Q 66 66 missense 0.034 benign 0.08 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1482834474 6p22.1 6 28272120A> T null E D 67 67 missense 0.853 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1269954459 6p22.1 6 28272118G> A null E K 67 67 missense 0.89 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs776538749 6p22.1 6 28272121G> A null A T 68 68 missense 0.999 probably damaging 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1382967879 6p22.1 6 28272128G> A null S N 70 70 missense 0.021 benign 0.69 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs750252089 6p22.1 6 28272130C> G null R G 71 71 missense 0.447 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs779844501 6p22.1 6 28272131G> A null R Q 71 71 missense 0.021 benign 0.51 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs750252089 6p22.1 6 28272130C> T null R W 71 71 missense 0.883 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1412242832 6p22.1 6 28272133C> A null L I 72 72 missense 0.422 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs11965538 6p22.1 6 28272137G> T null R L 73 73 0.1522 missense 0.006 benign 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs11965538 6p22.1 6 28272137G> A null R Q 73 73 0.1522 missense 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs749299020 6p22.1 6 28272136C> T null R W 73 73 missense 0.014 benign 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1311532031 6p22.1 6 28272141G> T null E D 74 74 missense 0.52 possibly damaging 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs770232910 6p22.1 6 28272139G> A null E K 74 74 missense 0.037 benign 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1228633845 6p22.1 6 28272142C> A null L I 75 75 missense 0.82 possibly damaging 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC rs747750846 6p22.1 6 28272148C> A null Q K 77 77 missense 0.007 benign 0.19 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1446941711 6p22.1 6 28272153G> T null Q H 78 78 missense 0.747 possibly damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,gnomAD rs113269107 6p22.1 6 28272152A> T null Q L 78 78 0.0002 missense 0.009 benign 0.08 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,gnomAD rs113269107 6p22.1 6 28272152A> G null Q R 78 78 0.0002 missense 0.009 benign 0.17 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs868069968 6p22.1 6 28272154T> G null W G 79 79 missense 0.506 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs74775964 6p22.1 6 28272157C> G null L V 80 80 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs747366919 6p22.1 6 28272160C> T null Q * 81 81 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs760126834 6p22.1 6 28272162G> T null Q H 81 81 missense 0.862 possibly damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs747366919 6p22.1 6 28272160C> A null Q K 81 81 missense 0.207 benign 0.18 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs776978602 6p22.1 6 28272161A> C null Q P 81 81 missense 0.806 possibly damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs775730777 6p22.1 6 28272164C> G null P R 82 82 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs765187169 6p22.1 6 28272163C> T null P S 82 82 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs765187169 6p22.1 6 28272163C> A null P T 82 82 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11965542 6p22.1 6 28272166G> T null E * 83 83 0.03534 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs755843745 6p22.1 6 28272167A> C null E A 83 83 missense 0.012 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs766238252 6p22.1 6 28272168G> T null E D 83 83 missense 0.012 benign 0.27 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11965542 6p22.1 6 28272166G> A null E K 83 83 0.03534 missense 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11965542 6p22.1 6 28272166G> C null E Q 83 83 0.03534 missense 0.645 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1313601989 6p22.1 6 28272191T> C null L P 91 91 missense 0.02 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1427190708 6p22.1 6 28272193G> T null E * 92 92 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs778337779 6p22.1 6 28272197T> C null L P 93 93 missense 0.987 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs898532505 6p22.1 6 28272209A> G null E G 97 97 missense 0.059 benign 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1396752436 6p22.1 6 28272208G> C null E Q 97 97 missense 0.849 possibly damaging 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs757970390 6p22.1 6 28272215T> C null F S 99 99 missense 0.95 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1453320687 6p22.1 6 28272224T> A null I N 102 102 missense 0.982 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1296735608 6p22.1 6 28272229C> T null P S 104 104 missense 1.0 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs777388998 6p22.1 6 28272235G> A null E K 106 106 missense 0.389 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs781641665 6p22.1 6 28272244G> T null A S 109 109 missense 0.434 benign 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs550613662 6p22.1 6 28272247C> G null R G 110 110 0.000399 missense 0.215 benign 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs770434648 6p22.1 6 28272248G> C null R P 110 110 missense 0.01 benign 0.1 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs770434648 6p22.1 6 28272248G> A null R Q 110 110 missense 0.015 benign 0.32 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs550613662 6p22.1 6 28272247C> T null R W 110 110 0.000399 missense 0.006 benign 0.62 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1204868757 6p22.1 6 28272250G> A null V M 111 111 missense 0.726 possibly damaging 0.06 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1447195862 6p22.1 6 28272260A> G null H R 114 114 missense 0.009 benign 0.13 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1247888029 6p22.1 6 28272259C> T null H Y 114 114 missense 0.525 possibly damaging 0.06 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1194691492 6p22.1 6 28272262C> A null H N 115 115 missense 0.408 benign 0.38 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1373332765 6p22.1 6 28272263A> G null H R 115 115 missense 0.404 benign 0.23 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs973247145 6p22.1 6 28272272G> A null S N 118 118 missense 0.036 benign 0.13 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs766725810 6p22.1 6 28272275G> A null R K 119 119 missense 0.019 benign 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1477480016 6p22.1 6 28272277G> A null E K 120 120 missense 0.641 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs776209508 6p22.1 6 28272283G> A null V M 122 122 missense 0.018 benign 0.11 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs145722921 6p22.1 6 28272314A> T null D V 132 132 0.001198 missense 0.049 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1431937939 6p22.1 6 28272313G> T null D Y 132 132 missense 0.419 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs766041260 6p22.1 6 28272317T> C null L P 133 133 missense 0.031 benign 0.06 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1273231589 6p22.1 6 28272319G> A null G R 134 134 missense 0.132 benign 0.28 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs180736887 6p22.1 6 28272323A> T null E V 135 135 0.0002 missense 0.44 benign 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1478379688 6p22.1 6 28272326C> T null T I 136 136 missense 0.528 possibly damaging 0.05 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs546712749 6p22.1 6 28272328G> A null G R 137 137 0.0002 missense 0.854 possibly damaging 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1468282604 6p22.1 6 28272332A> C null Q P 138 138 missense 0.009 benign 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1200942391 6p22.1 6 28272334C> T null Q * 139 139 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs765154187 6p22.1 6 28272335A> G null Q R 139 139 missense 0.003 benign 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1581611953 6p22.1 6 28272671A> C null D A 141 141 missense 0.234 benign 0.61 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes rs565447272 6p22.1 6 28272673C> A null P T 142 142 0.0002 missense 0.22 benign 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1581611978 6p22.1 6 28272677A> C null D A 143 143 missense 0.108 benign 0.94 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1405979140 6p22.1 6 28272683C> G null P R 145 145 missense 0.029 benign 0.25 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs781349770 6p22.1 6 28272682C> T null P S 145 145 missense 0.0 benign 0.14 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1561875056 6p22.1 6 28272685A> G null K E 146 146 missense 0.027 benign 0.98 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373814822 6p22.1 6 28272691C> T null Q * 148 148 0.000399 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1055142132 6p22.1 6 28272697A> T null I L 150 150 missense 0.0 benign 0.54 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1288090850 6p22.1 6 28272699A> G null I M 150 150 missense 0.001 benign 0.29 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1055142132 6p22.1 6 28272697A> G null I V 150 150 missense 0.0 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1327466681 6p22.1 6 28272700C> T null L F 151 151 missense 0.014 benign 0.7 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs780687737 6p22.1 6 28272704T> C null V A 152 152 missense 0.005 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1229225509 6p22.1 6 28272703G> A null V M 152 152 missense 0.029 benign 0.29 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs749854697 6p22.1 6 28272709G> A null E K 154 154 missense 0.009 benign 0.62 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs768817534 6p22.1 6 28272719C> T null P L 157 157 missense 0.019 benign 0.05 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs768817534 6p22.1 6 28272719C> G null P R 157 157 missense 0.658 possibly damaging 0.13 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs918001391 6p22.1 6 28272718C> T null P S 157 157 missense 0.048 benign 0.25 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1581612148 6p22.1 6 28272722T> C null L P 158 158 missense 0.003 benign 0.14 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1490404089 6p22.1 6 28272724A> G null K E 159 159 missense 0.003 benign 0.89 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1180939405 6p22.1 6 28272725A> G null K R 159 159 missense 0.003 benign 0.56 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1249385868 6p22.1 6 28272728G> A null G E 160 160 missense 0.047 benign 0.76 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1420582393 6p22.1 6 28272734A> C null Q P 162 162 missense 0.009 benign 0.06 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC rs774513249 6p22.1 6 28272741G> T null Q H 164 164 missense 0.739 possibly damaging 0.16 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1182453748 6p22.1 6 28272744G> T null Q H 165 165 missense 0.724 possibly damaging 0.12 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1367805303 6p22.1 6 28272745G> T null V F 166 166 missense 0.658 possibly damaging 0.08 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370023717 6p22.1 6 28272749G> A null R Q 167 167 0.000399 missense 0.0 benign 0.81 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs187327081 6p22.1 6 28272748C> T null R W 167 167 0.004393 missense 0.471 possibly damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1367743417 6p22.1 6 28272754G> A null E K 169 169 missense 0.007 benign 0.43 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs773372053 6p22.1 6 28272757T> C null C R 170 170 missense 0.0 benign 0.36 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1581612314 6p22.1 6 28272767C> T null T I 173 173 missense 0.029 benign 0.18 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1393444678 6p22.1 6 28272773C> T null P L 175 175 missense 0.176 benign 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1308413814 6p22.1 6 28272776A> G null E G 176 176 missense 0.003 benign 0.24 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs375096577 6p22.1 6 28272775G> C null E Q 176 176 missense 0.009 benign 0.48 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs752598872 6p22.1 6 28272786G> T null K N 179 179 missense 0.046 benign 0.31 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,gnomAD rs569301192 6p22.1 6 28276195G> A null G D 180 180 0.000599 missense 0.076 benign 0.31 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,gnomAD rs569301192 6p22.1 6 28276195G> T null G V 180 180 0.000599 missense 0.939 probably damaging 0.11 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199612523 6p22.1 6 28276201A> G null E G 182 182 0.0002 missense 0.014 benign 0.05 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs762817558 6p22.1 6 28276204C> A null T K 183 183 missense 0.005 benign 0.22 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs775281774 6p22.1 6 28276203A> T null T S 183 183 missense 0.108 benign 0.55 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1430539981 6p22.1 6 28276207G> C null R T 184 184 missense 0.615 possibly damaging 0.16 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1218300935 6p22.1 6 28276209A> T null I F 185 185 missense 0.413 benign 0.7 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ESP,ExAC,TOPMed,gnomAD rs200703885 6p22.1 6 28276213A> C null E A 186 186 missense 0.011 benign 0.14 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs774216204 6p22.1 6 28276218G> A null G R 188 188 missense 0.127 benign 0.32 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs189868497 6p22.1 6 28276221A> C null K Q 189 189 0.000399 missense 0.736 possibly damaging 0.33 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs568537725 6p22.1 6 28276228T> C null I T 191 191 0.0002 missense 0.001 benign 0.33 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1433764176 6p22.1 6 28276234T> A null V E 193 193 missense 0.0 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146128238 6p22.1 6 28276246G> C null C S 197 197 0.0002 missense 0.003 benign 0.83 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs952614092 6p22.1 6 28276249G> C null G A 198 198 missense 0.423 benign 0.32 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs766792794 6p22.1 6 28276267G> A null G E 204 204 missense 0.02 benign 0.28 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs755854753 6p22.1 6 28276266G> T null G W 204 204 missense 0.882 possibly damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1473585519 6p22.1 6 28276272A> T null I L 206 206 missense 0.007 benign 0.84 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1168244537 6p22.1 6 28276273T> C null I T 206 206 missense 0.013 benign 0.55 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,gnomAD rs553908256 6p22.1 6 28276275T> C null S P 207 207 0.000399 missense 0.018 benign 0.14 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs577137594 6p22.1 6 28276285T> G null M R 210 210 0.0002 missense 0.037 benign 0.57 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs577137594 6p22.1 6 28276285T> C null M T 210 210 0.0002 missense 0.0 benign 0.62 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1240457295 6p22.1 6 28276290G> A null A T 212 212 missense 0.007 benign 0.61 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1187340325 6p22.1 6 28276302G> A null G S 216 216 missense 0.015 benign 0.73 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1266922752 6p22.1 6 28276303G> T null G V 216 216 missense 0.007 benign 0.18 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 dbSNP,gnomAD rs17851075 pubmed:15489334 6p22.1 6 28276319G> T null R S 220 220 missense 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs944512250 6p22.1 6 28276317A> G null R G 221 221 missense 0.007 benign 0.14 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs747182472 6p22.1 6 28276323C> T null Q * 223 223 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs747182472 6p22.1 6 28276323C> G null Q E 223 223 missense 0.087 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs771150743 6p22.1 6 28276329A> C null K Q 225 225 missense 0.021 benign 0.55 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC rs775197115 6p22.1 6 28276332C> G null P A 226 226 missense 0.024 benign 0.13 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs749075793 6p22.1 6 28276333C> A null P H 226 226 missense 0.152 benign 0.05 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs774317111 6p22.1 6 28276344A> T null I F 230 230 missense 0.138 benign 0.06 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1040507789 6p22.1 6 28276345T> C null I T 230 230 missense 0.0 benign 0.88 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs761691188 6p22.1 6 28276351A> G null Y C 232 232 missense 0.011 benign 0.13 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs767007169 6p22.1 6 28276360C> T null S L 235 235 missense 0.399 benign 0.17 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1481891438 6p22.1 6 28276359T> C null S P 235 235 missense 0.991 probably damaging 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs539718240 6p22.1 6 28276365C> T null R C 237 237 0.000799 missense 0.0 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376872529 6p22.1 6 28276366G> A null R H 237 237 0.0002 missense 0.0 benign 0.21 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ESP,TOPMed rs370280420 6p22.1 6 28276379C> G null F L 241 241 missense 0.358 benign 0.22 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs766126680 6p22.1 6 28276380A> T null I F 242 242 missense 0.001 benign 0.33 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs755346099 6p22.1 6 28276382C> G null I M 242 242 missense 0.006 benign 0.18 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs766126680 6p22.1 6 28276380A> G null I V 242 242 missense 0.001 benign 0.47 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs765558461 6p22.1 6 28276384A> G null Q R 243 243 missense 0.011 benign 0.06 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs753207556 6p22.1 6 28276388C> G null H Q 244 244 missense 0.007 benign 0.14 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1270093146 6p22.1 6 28276396T> G null L R 247 247 missense 0.945 probably damaging 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1472431391 6p22.1 6 28276399T> C null I T 248 248 missense 0.003 benign 0.84 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs758848192 6p22.1 6 28276408C> A null A E 251 251 missense 0.0 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1410788849 6p22.1 6 28276410A> G null S G 252 252 missense 0.001 benign 0.48 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs777847322 6p22.1 6 28276411G> A null S N 252 252 missense 0.005 benign 0.27 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ESP,TOPMed,gnomAD rs374449641 6p22.1 6 28276416C> T null H Y 254 254 missense 0.041 benign 0.08 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs779221996 6p22.1 6 28276420C> T null T M 255 255 missense 0.015 benign 0.13 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ESP,ExAC,gnomAD rs368592837 6p22.1 6 28276427G> T null K N 257 257 missense 0.085 benign 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs746130804 6p22.1 6 28276429A> C null K T 258 258 missense 0.877 possibly damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1373924685 6p22.1 6 28276434T> G null C G 260 260 missense 0.011 benign 0.27 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs569619601 6p22.1 6 28276437G> T null E * 261 261 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs569619601 6p22.1 6 28276437G> A null E K 261 261 missense 0.031 benign 0.59 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs778598171 6p22.1 6 28276446G> A null V M 264 264 missense 0.459 possibly damaging 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1049068112 6p22.1 6 28276450G> A null C Y 265 265 missense 0.007 benign 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1178502424 6p22.1 6 28276452C> T null Q * 266 266 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1561877947 6p22.1 6 28276459C> T null S F 268 268 missense 0.787 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC rs771907693 6p22.1 6 28276461A> C null S R 269 269 missense 0.012 benign 0.57 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1482967681 6p22.1 6 28276467A> G null T A 271 271 missense 0.135 benign 0.54 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs746385615 6p22.1 6 28276468C> T null T I 271 271 missense 0.012 benign 0.55 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs770612647 6p22.1 6 28276471G> A null G E 272 272 missense 0.037 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1581618587 6p22.1 6 28276470G> A null G R 272 272 missense 0.025 benign 0.53 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs770612647 6p22.1 6 28276471G> T null G V 272 272 missense 0.543 possibly damaging 0.27 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1261429772 6p22.1 6 28276474A> G null H R 273 273 missense 0.003 benign 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1181743009 6p22.1 6 28276473C> T null H Y 273 273 missense 0.454 possibly damaging 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs776390277 6p22.1 6 28276479A> G null K E 275 275 missense 0.073 benign 0.3 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1163889892 6p22.1 6 28276482G> T null V F 276 276 missense 0.361 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1561878044 6p22.1 6 28276489C> T null S F 278 278 missense 0.642 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC rs759142165 6p22.1 6 28276492G> T null R I 279 279 missense 0.622 possibly damaging 0.05 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1056414076 6p22.1 6 28276496G> C null E D 280 280 missense 0.003 benign 0.2 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs765588169 6p22.1 6 28276501G> A null G D 282 282 missense 0.159 benign 0.06 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs765588169 6p22.1 6 28276501G> T null G V 282 282 missense 0.159 benign 0.14 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1354850025 6p22.1 6 28276503C> G null H D 283 283 missense 0.915 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs907404144 6p22.1 6 28276509T> C null C R 285 285 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs764578564 6p22.1 6 28276513A> T null H L 286 286 missense 0.005 benign 0.33 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1312747183 6p22.1 6 28276512C> A null H N 286 286 missense 0.139 benign 0.67 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs764578564 6p22.1 6 28276513A> G null H R 286 286 missense 0.139 benign 0.38 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs752116217 6p22.1 6 28276515G> A null E K 287 287 missense 0.616 possibly damaging 0.05 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1272679128 6p22.1 6 28276519G> A null C Y 288 288 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs772381255 6p22.1 6 28276525A> G null K R 290 290 missense 0.998 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs947540640 6p22.1 6 28276528C> G null A G 291 291 missense 0.447 possibly damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1484160993 6p22.1 6 28276533C> T null Q * 293 293 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs757299852 6p22.1 6 28276535G> C null Q H 293 293 missense 0.952 probably damaging 0.11 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1338950214 6p22.1 6 28276534A> G null Q R 293 293 missense 0.073 benign 0.36 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1275582262 6p22.1 6 28276537G> A null R K 294 294 missense 0.991 probably damaging 0.32 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1275582262 6p22.1 6 28276537G> T null R M 294 294 missense 0.999 probably damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1289034206 6p22.1 6 28276538G> C null R S 294 294 missense 0.999 probably damaging 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs750598932 6p22.1 6 28276545C> T null H Y 297 297 missense 0.998 probably damaging 0.34 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ESP,ExAC,TOPMed,gnomAD rs368346312 6p22.1 6 28276551G> A null V I 299 299 missense 0.047 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs747892291 6p22.1 6 28276555G> T null R I 300 300 missense 0.999 probably damaging 0.17 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs747892291 6p22.1 6 28276555G> C null R T 300 300 missense 0.999 probably damaging 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1185830247 6p22.1 6 28276560C> T null Q * 302 302 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1389217837 6p22.1 6 28276563A> G null K E 303 303 missense 0.869 possibly damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1442166284 6p22.1 6 28276570A> T null H L 305 305 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs547687161 6p22.1 6 28276584C> G null P A 310 310 missense 0.506 possibly damaging 0.3 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs547687161 6p22.1 6 28276584C> A null P T 310 310 missense 0.864 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1419968924 6p22.1 6 28276588A> G null Y C 311 311 missense 1.0 probably damaging 0.23 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs777833357 6p22.1 6 28276594G> A null C Y 313 313 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs746981982 6p22.1 6 28276611G> A null V I 319 319 missense 0.872 possibly damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs902930746 6p22.1 6 28276629G> A null G S 325 325 missense 1.0 probably damaging 0.22 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1360021158 6p22.1 6 28276636T> C null L S 327 327 missense 0.98 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1256873588 6p22.1 6 28276638G> A null E K 328 328 missense 0.999 probably damaging 0.32 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,TOPMed rs180863059 6p22.1 6 28276642A> G null H R 329 329 0.000399 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1223252887 6p22.1 6 28276652T> G null I M 332 332 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1021998871 6p22.1 6 28276650A> G null I V 332 332 missense 0.997 probably damaging 0.05 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1261889900 6p22.1 6 28276668C> A null P T 338 338 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1326263902 6p22.1 6 28276672A> T null Y F 339 339 missense 0.998 probably damaging 0.13 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1444738172 6p22.1 6 28276677T> G null C G 341 341 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1444738172 6p22.1 6 28276677T> C null C R 341 341 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1477596965 6p22.1 6 28276698T> C null F L 348 348 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,gnomAD rs541804397 6p22.1 6 28276700T> G null F L 348 348 0.0002 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1431427935 6p22.1 6 28276704C> T null R C 350 350 missense 0.81 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs769331933 6p22.1 6 28276705G> A null R H 350 350 missense 0.995 probably damaging 0.36 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1158243219 6p22.1 6 28276711C> T null S F 352 352 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs775277786 6p22.1 6 28276722C> T null R * 356 356 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1380586793 6p22.1 6 28276723G> A null R Q 356 356 missense 0.998 probably damaging 0.18 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1393557337 6p22.1 6 28276726A> C null H P 357 357 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1320582740 6p22.1 6 28276725C> T null H Y 357 357 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs763210427 6p22.1 6 28276728C> G null Q E 358 358 missense 0.988 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,gnomAD rs186064877 6p22.1 6 28276732G> T null R I 359 359 0.0002 missense 0.982 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,gnomAD rs186064877 6p22.1 6 28276732G> A null R K 359 359 0.0002 missense 0.338 benign 0.15 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs762334316 6p22.1 6 28276743C> T null Q * 363 363 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs750473713 6p22.1 6 28276753C> T null P L 366 366 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1490079998 6p22.1 6 28276762G> T null C F 369 369 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs766499284 6p22.1 6 28276771G> A null C Y 372 372 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs754141333 6p22.1 6 28276776A> G null K E 374 374 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs572064531 6p22.1 6 28276777A> G null K R 374 374 0.000399 missense 0.998 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1361968542 6p22.1 6 28276780C> G null T S 375 375 missense 0.854 possibly damaging 0.13 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1160361770 6p22.1 6 28276789A> G null Q R 378 378 missense 0.996 probably damaging 0.3 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1040705439 6p22.1 6 28276792C> G null A G 379 379 missense 0.999 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs757273930 6p22.1 6 28276798T> G null L R 381 381 missense 0.951 probably damaging 0.35 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs559424010 6p22.1 6 28276800C> T null L F 382 382 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1554136247 6p22.1 6 28276807A> C null H P 384 384 missense 0.999 probably damaging 0.3 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1306962810 6p22.1 6 28276810A> G null H R 385 385 missense 0.822 possibly damaging 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1223357353 6p22.1 6 28276809C> T null H Y 385 385 missense 0.952 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1334503478 6p22.1 6 28276812C> T null Q * 386 386 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1240633472 6p22.1 6 28276818A> C null I L 388 388 missense 0.011 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1291951498 6p22.1 6 28276819T> A null I N 388 388 missense 0.655 possibly damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs780777946 6p22.1 6 28276821C> T null H Y 389 389 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs540882490 6p22.1 6 28276827C> T null H Y 391 391 0.0002 missense 0.936 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs749003843 6p22.1 6 28276831C> T null S F 392 392 missense 0.952 probably damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs774981495 6p22.1 6 28276830T> C null S P 392 392 missense 0.915 probably damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1195010250 6p22.1 6 28276833A> G null K E 393 393 missense 0.294 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1337921270 6p22.1 6 28276840A> G null H R 395 395 missense 0.999 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1277136348 6p22.1 6 28276843A> G null Q R 396 396 missense 0.018 benign 0.44 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs754428219 6p22.1 6 28276850C> A null N K 398 398 missense 0.87 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1581619798 6p22.1 6 28276852A> C null E A 399 399 missense 0.999 probably damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,gnomAD rs533137539 6p22.1 6 28276851G> A null E K 399 399 0.000399 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1161957745 6p22.1 6 28276856T> A null C * 400 400 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1445210559 6p22.1 6 28276855G> T null C F 400 400 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs768008002 6p22.1 6 28276854T> G null C G 400 400 missense 0.999 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC rs748384015 6p22.1 6 28276874G> T null L F 406 406 missense 1.0 probably damaging 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC rs748384015 6p22.1 6 28276874G> C null L F 406 406 missense 1.0 probably damaging 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ESP rs371968394 6p22.1 6 28276884C> T null L F 410 410 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs760650910 6p22.1 6 28276888T> C null I T 411 411 missense 0.202 benign 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1458796800 6p22.1 6 28276890C> T null R * 412 412 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1297950437 6p22.1 6 28276891G> A null R Q 412 412 missense 0.998 probably damaging 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1397737124 6p22.1 6 28276894A> T null H L 413 413 missense 0.989 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC rs766522512 6p22.1 6 28276893C> T null H Y 413 413 missense 0.993 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs753965503 6p22.1 6 28276897A> G null H R 414 414 missense 0.999 probably damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1393648227 6p22.1 6 28276900G> C null R T 415 415 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1330091762 6p22.1 6 28276905C> G null H D 417 417 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1380546768 6p22.1 6 28276906A> G null H R 417 417 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1316803559 6p22.1 6 28276912G> A null G E 419 419 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs780546859 6p22.1 6 28276911G> A null G R 419 419 missense 1.0 probably damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1359698133 6p22.1 6 28276925C> G null F L 423 423 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs763923028 6p22.1 6 28276926A> C null K Q 424 424 missense 0.544 possibly damaging 0.41 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1249410430 6p22.1 6 28276937A> G null I M 427 427 missense 0.915 probably damaging 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1481470583 6p22.1 6 28276938T> C null C R 428 428 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs888320862 6p22.1 6 28276939G> C null C S 428 428 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs888320862 6p22.1 6 28276939G> A null C Y 428 428 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1242430140 6p22.1 6 28276948C> T null A V 431 431 missense 0.959 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs757181763 6p22.1 6 28276953C> T null R * 433 433 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ESP,ExAC,TOPMed,gnomAD rs375309268 6p22.1 6 28276954G> A null R Q 433 433 missense 0.991 probably damaging 0.12 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1016379009 6p22.1 6 28276960A> G null N S 435 435 missense 0.999 probably damaging 0.65 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs779641149 6p22.1 6 28276965C> T null H Y 437 437 missense 0.998 probably damaging 0.11 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs748885770 6p22.1 6 28276968C> G null L V 438 438 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs972112881 6p22.1 6 28276974C> T null Q * 440 440 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs972112881 6p22.1 6 28276974C> G null Q E 440 440 missense 0.995 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs537254525 6p22.1 6 28276979T> G null H Q 441 441 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1405993380 6p22.1 6 28276978A> G null H R 441 441 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs960276641 6p22.1 6 28276986A> G null I V 444 444 missense 0.997 probably damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs991796657 6p22.1 6 28276989C> T null H Y 445 445 missense 0.998 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs916143982 6p22.1 6 28276993A> T null N I 446 446 missense 0.847 possibly damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1381335277 6p22.1 6 28276998G> T null E * 448 448 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1381335277 6p22.1 6 28276998G> C null E Q 448 448 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1561879457 6p22.1 6 28277005C> T null P L 450 450 missense 0.841 possibly damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs771309593 6p22.1 6 28277008A> G null Y C 451 451 missense 0.977 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs909249453 6p22.1 6 28277010C> G null Q E 452 452 missense 0.0 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1581620389 6p22.1 6 28277012G> T null Q H 452 452 missense 0.269 benign 0.08 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1292938543 6p22.1 6 28277011A> G null Q R 452 452 missense 0.023 benign 0.4 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1309089563 6p22.1 6 28277017G> C null S T 454 454 missense 0.062 benign 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs774057290 6p22.1 6 28277019G> C null E Q 455 455 missense 0.003 benign 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1262505908 6p22.1 6 28277026G> A null G E 457 457 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1321318811 6p22.1 6 28277028G> A null E K 458 458 missense 0.779 possibly damaging 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ESP,ExAC,TOPMed,gnomAD rs371333289 6p22.1 6 28277032C> G null A G 459 459 missense 0.901 possibly damaging 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs748499677 6p22.1 6 28277031G> A null A T 459 459 missense 0.955 probably damaging 0.08 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1172047395 6p22.1 6 28277034T> G null F V 460 460 missense 0.978 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,gnomAD rs116288753 6p22.1 6 28277044G> A null R K 463 463 0.0002 missense 0.019 benign 0.28 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs769518702 6p22.1 6 28277046T> C null S P 464 464 missense 0.972 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ESP,ExAC,TOPMed,gnomAD rs376665599 6p22.1 6 28277050G> A null G D 465 465 missense 1.0 probably damaging 0.76 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1171820047 6p22.1 6 28277059A> G null Q R 468 468 missense 0.998 probably damaging 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1468705980 6p22.1 6 28277061C> T null H Y 469 469 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs776785015 6p22.1 6 28277064C> T null Q * 470 470 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs529692636 6p22.1 6 28277069A> T null R S 471 471 missense 0.842 possibly damaging 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs758411154 6p22.1 6 28277071du p null Y * 472 472 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs765548403 6p22.1 6 28277091G> A null A T 479 479 missense 0.89 possibly damaging 0.0 deleterious - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs867437797 6p21.33 6 31740474C> T null S F 3 3 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs867437797 6p21.33 6 31740474C> A null S Y 3 3 missense 0.031 benign 0.0 deleterious - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1400253745 6p21.33 6 31740477T> C null L S 4 4 missense 0.0 benign 0.39 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1365883110 6p21.33 6 31740479G> A null G R 5 5 missense 0.001 benign 0.41 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1365883110 6p21.33 6 31740479G> C null G R 5 5 missense 0.001 benign 0.41 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1284389608 6p21.33 6 31740492G> A null R K 9 9 missense 0.003 benign 0.19 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1328721732 6p21.33 6 31740494A> G null R G 10 10 missense 0.0 benign 0.19 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,TOPMed rs543053495 6p21.33 6 31740497A> T null T S 11 11 0.0002 missense 0.037 benign 0.11 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs746002203 6p21.33 6 31740507G> A null G E 14 14 missense 0.025 benign 0.11 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1244931634 6p21.33 6 31740513G> T null R I 16 16 missense 0.001 benign 0.08 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1489451150 6p21.33 6 31740518G> A null G R 18 18 missense 0.0 benign 0.85 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs866226534 6p21.33 6 31740522C> A null A E 19 19 missense 0.0 benign 0.19 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1199842222 6p21.33 6 31740521G> A null A T 19 19 missense 0.015 benign 0.34 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs866226534 6p21.33 6 31740522C> T null A V 19 19 missense 0.0 benign 0.43 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs761833682 6p21.33 6 31740527T> G null S A 21 21 missense 0.0 benign 0.82 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs200570010 6p21.33 6 31740528C> T null S F 21 21 0.000599 missense 0.082 benign 0.04 deleterious - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1407988417 6p21.33 6 31740531C> A null S Y 22 22 missense 0.014 benign 0.02 deleterious - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1323423768 6p21.33 6 31740534G> A null G D 23 23 missense 0.015 benign 0.58 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1404277828 6p21.33 6 31740533G> C null G R 23 23 missense 0.0 benign 0.28 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1583890224 6p21.33 6 31740536T> C null F L 24 24 missense 0.0 benign 0.27 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs773181036 6p21.33 6 31740538C> G null F L 24 24 missense 0.0 benign 0.27 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs760382710 6p21.33 6 31740540C> T null P L 25 25 missense 0.05 benign 0.02 deleterious - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs766196782 6p21.33 6 31740543G> T null S I 26 26 missense 0.001 benign 0.09 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1350316138 6p21.33 6 31740544C> A null S R 26 26 missense 0.16 benign 0.19 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1408171782 6p21.33 6 31740548G> A null A T 28 28 missense 0.001 benign 0.62 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2075789 6p21.33 6 31740551C> T null P S 29 29 0.1018 missense 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1242257989 6p21.33 6 31740554G> A null V M 30 30 missense 0.006 benign 0.18 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs764819567 6p21.33 6 31740558C> T null P L 31 31 missense 0.001 benign 0.7 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs764819567 6p21.33 6 31740558C> A null P Q 31 31 missense 0.003 benign 0.62 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1399705967 6p21.33 6 31740575G> A null E K 37 37 missense 0.109 benign 0.71 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1018466417 6p21.33 6 31740578G> A null E K 38 38 missense 0.037 benign 0.47 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs962405041 6p21.33 6 31740584G> A null E K 40 40 missense 0.047 benign 0.43 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,gnomAD rs559101088 6p21.33 6 31740593G> T null E * 43 43 0.0002 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1250720922 6p21.33 6 31740600A> G null E G 45 45 missense 0.037 benign 0.13 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1481951458 6p21.33 6 31740604_31740605insGAGTA G null EL E* 46 47 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1392009363 6p21.33 6 31740602G> A null E K 46 46 missense 0.075 benign 0.53 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1456552413 6p21.33 6 31740606T> C null L P 47 47 missense 0.0 benign 0.31 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1472291367 6p21.33 6 31740613G> T null E D 49 49 missense 0.075 benign 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs760617988 6p21.33 6 31741167A> G null H R 51 51 missense 0.075 benign 0.26 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1444725613 6p21.33 6 31741170T> A null L Q 52 52 missense 0.49 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs776092248 6p21.33 6 31741175G> A null V M 54 54 missense 0.142 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1262863691 6p21.33 6 31741181T> G null W G 56 56 missense 0.003 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1170000008 6p21.33 6 31741199G> C null G R 62 62 missense 0.902 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs764619072 6p21.33 6 31741202A> G null I V 63 63 missense 0.0 benign 0.65 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs752295911 6p21.33 6 31741209A> G null Y C 65 65 missense 0.939 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs758885613 6p21.33 6 31741212A> G null Y C 66 66 missense 0.939 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1209413151 6p21.33 6 31741221G> A null S N 69 69 missense 0.005 benign 0.52 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs757557635 6p21.33 6 31741226T> A null S T 71 71 missense 0.157 benign 0.18 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs781635576 6p21.33 6 31741232A> G null I V 73 73 missense 0.003 benign 0.49 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs779976920 6p21.33 6 31741261C> G null H Q 82 82 missense 0.007 benign 0.62 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1264654777 6p21.33 6 31741262G> A null E K 83 83 missense 0.007 benign 0.36 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1417449468 6p21.33 6 31741266G> A null S N 84 84 missense 0.001 benign 0.34 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28381349 6p21.33 6 31741268C> T null L F 85 85 0.03255 missense 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs772135212 6p21.33 6 31741271A> G null K E 86 86 missense 0.003 benign 0.61 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1427241995 6p21.33 6 31741273G> C null K N 86 86 missense 0.075 benign 0.2 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1245736608 6p21.33 6 31741272A> G null K R 86 86 missense 0.006 benign 0.4 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1477922821 6p21.33 6 31741277C> T null L F 88 88 missense 0.957 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs746959342 6p21.33 6 31741281A> G null Q R 89 89 missense 0.001 benign 0.25 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1475168724 6p21.33 6 31742879C> G null L V 92 92 missense 0.013 benign 0.31 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs762338344 6p21.33 6 31742897C> T null Q * 98 98 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1003771751 6p21.33 6 31742901C> A null S Y 99 99 missense 0.006 benign 0.26 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs889291350 6p21.33 6 31742903G> A null V I 100 100 missense 0.003 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs889291350 6p21.33 6 31742903G> C null V L 100 100 missense 0.007 benign 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs767743499 6p21.33 6 31742910C> T null T M 102 102 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1274108728 6p21.33 6 31742913G> C null S T 103 103 missense 0.107 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs989240192 6p21.33 6 31742922A> G null Q R 106 106 missense 0.785 possibly damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1408766372 6p21.33 6 31742925A> G null D G 107 107 missense 0.988 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1408766372 6p21.33 6 31742925A> T null D V 107 107 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs756277944 6p21.33 6 31742927G> A null E K 108 108 missense 0.546 possibly damaging 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs754120062 6p21.33 6 31742935G> A null M I 110 110 missense 0.039 benign 0.23 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs780394457 6p21.33 6 31742933A> G null M V 110 110 missense 0.069 benign 0.14 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1025328818 cosmic curated [Cosmic]: kidney pubmed:23797736,cosmic_study:494 6p21.33 6 31742939C> T null R * 112 112 missense 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs755055223 6p21.33 6 31742940G> A null R Q 112 112 missense 0.001 benign 0.59 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs754068882 6p21.33 6 31743113C> A null Q K 120 120 missense 0.012 benign 0.7 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs755286122 cosmic curated [Cosmic]: urinary_tract cosmic_study:581 6p21.33 6 31743114A> G null Q R 120 120 missense 0.001 benign 0.4 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs765382400 6p21.33 6 31743116G> A null E K 121 121 missense 0.108 benign 0.3 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs752877507 6p21.33 6 31743119C> G null H D 122 122 missense 0.001 benign 0.78 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1425500131 6p21.33 6 31743121C> G null H Q 122 122 missense 0.066 benign 0.57 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs867446497 6p21.33 6 31743125G> A null E K 124 124 missense 0.001 benign 0.65 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs757134162 6p21.33 6 31743129C> G null P R 125 125 missense 0.055 benign 0.49 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1420944568 6p21.33 6 31743131A> G null K E 126 126 missense 0.001 benign 0.9 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1480276752 6p21.33 6 31743135G> C null R T 127 127 missense 0.003 benign 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1403219350 6p21.33 6 31743138C> G null P R 128 128 missense 0.966 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs745804757 6p21.33 6 31743143A> G null I V 130 130 missense 0.003 benign 0.58 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs546320539 6p21.33 6 31743146A> G null I V 131 131 0.000599 missense 0.001 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs906559667 6p21.33 6 31743159G> A null S N 135 135 missense 0.023 benign 0.32 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1293804623 6p21.33 6 31743162T> C null V A 136 136 missense 0.608 possibly damaging 0.12 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1410526308 6p21.33 6 31743921C> A null Q K 145 145 missense 0.491 possibly damaging 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs141863919 6p21.33 6 31743924C> T null R C 146 146 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs778472555 6p21.33 6 31743925G> A null R H 146 146 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs965034637 6p21.33 6 31743934C> T null S F 149 149 missense 0.724 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1347431600 6p21.33 6 31743936G> A null G R 150 150 missense 0.023 benign 0.38 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs951767819 6p21.33 6 31743951A> C null I L 155 155 missense 0.001 benign 0.53 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs951767819 6p21.33 6 31743951A> G null I V 155 155 missense 0.003 benign 0.74 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1344042391 6p21.33 6 31743954C> T null P S 156 156 missense 0.254 benign 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs771564610 6p21.33 6 31743960G> A null A T 158 158 missense 0.019 benign 0.44 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs555852787 6p21.33 6 31743961C> T null A V 158 158 0.000599 missense 0.029 benign 0.49 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs147242972 6p21.33 6 31743963A> T null M L 159 159 missense 0.001 benign 0.61 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs147242972 6p21.33 6 31743963A> G null M V 159 159 missense 0.028 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1289238696 6p21.33 6 31743978A> G null K E 164 164 missense 0.94 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs200847013 6p21.33 6 31743984C> T null L F 166 166 missense 0.933 probably damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs200847013 6p21.33 6 31743984C> G null L V 166 166 missense 0.175 benign 0.4 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1246912077 6p21.33 6 31743987T> C null F L 167 167 missense 0.108 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs544248641 6p21.33 6 31743997C> G null S C 170 170 0.0002 missense 1.0 probably damaging 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs544248641 6p21.33 6 31743997C> T null S F 170 170 0.0002 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1178426915 6p21.33 6 31744002A> T null I F 172 172 missense 0.783 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1246778705 6p21.33 6 31744008T> G null F V 174 174 missense 0.929 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs375782879 6p21.33 6 31744012A> G null D G 175 175 missense 0.732 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs751638760 6p21.33 6 31744014T> A null C S 176 176 missense 0.013 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1364061906 6p21.33 6 31744016C> G null C W 176 176 missense 0.929 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs878954386 6p21.33 6 31744017C> T null L F 177 177 missense 0.253 benign 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1035542409 6p21.33 6 31744018T> A null L H 177 177 missense 0.012 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs961052469 6p21.33 6 31744024C> T null T I 179 179 missense 0.018 benign 0.0 deleterious - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs979678139 6p21.33 6 31744142C> T null P S 181 181 missense 0.001 benign 0.98 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1269317419 6p21.33 6 31744152T> C null L S 184 184 missense 0.801 possibly damaging 0.12 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1215921764 6p21.33 6 31744157T> C null F L 186 186 missense 0.0 benign 0.72 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs747284710 6p21.33 6 31744164C> T null P L 188 188 missense 0.003 benign 0.14 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs374128866 6p21.33 6 31744163C> T null P S 188 188 missense 0.01 benign 0.5 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs374128866 6p21.33 6 31744163C> A null P T 188 188 missense 0.109 benign 0.28 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs759503147 6p21.33 6 31744169C> T null P S 190 190 missense 0.003 benign 0.66 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs752487453 6p21.33 6 31744184T> C null S P 195 195 missense 0.241 benign 0.36 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,gnomAD rs201902027 6p21.33 6 31744188A> G null Q R 196 196 missense 0.954 probably damaging 0.11 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs147515280 6p21.33 6 31744193C> T null R * 198 198 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs373533126 6p21.33 6 31744194G> C null R P 198 198 missense 0.969 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs373533126 6p21.33 6 31744194G> A null R Q 198 198 missense 0.286 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs780879911 6p21.33 6 31744197C> G null A G 199 199 missense 0.962 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs931705193 6p21.33 6 31744200T> C null L P 200 200 missense 0.977 probably damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs140046907 6p21.33 6 31744202G> A null G R 201 201 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,dbSNP rs28381358 6p21.33 6 31744257A> G null Y C 202 202 0.0002 missense 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1453199689 6p21.33 6 31744214A> C null K Q 205 205 missense 0.992 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs28381359 6p21.33 6 31744268G> T null V F 206 206 missense 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs112751313 6p21.33 6 31744221T> A null L Q 207 207 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,TOPMed,gnomAD rs149694647 6p21.33 6 31744226C> T null R * 209 209 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,TOPMed,gnomAD rs149694647 6p21.33 6 31744226C> G null R G 209 209 missense 0.956 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs138712583 6p21.33 6 31744227G> A null R Q 209 209 0.000399 missense 0.571 possibly damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1426267022 6p21.33 6 31744232A> G null R G 211 211 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375514940 6p21.33 6 31744238G> A null G R 213 213 0.0002 missense 0.979 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375514940 6p21.33 6 31744238G> C null G R 213 213 0.0002 missense 0.979 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375514940 6p21.33 6 31744238G> T null G W 213 213 0.0002 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1221371179 6p21.33 6 31744244G> C null E Q 215 215 missense 0.833 possibly damaging 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs201310137 6p21.33 6 31744255C> G null D E 218 218 0.0002 missense 0.303 benign 0.18 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs369927732 6p21.33 6 31744265A> G null S G 222 222 missense 0.0 benign 0.62 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs765150543 6p21.33 6 31744266G> A null S N 222 222 missense 0.001 benign 0.51 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs28381359 6p21.33 6 31744268G> A null V I 223 223 missense 0.943 probably damaging 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs757008823 6p21.33 6 31744281G> A null G D 227 227 missense 0.003 benign 0.16 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1470357782 6p21.33 6 31744294T> A null F L 231 231 missense 0.671 possibly damaging 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1470357782 6p21.33 6 31744294T> G null F L 231 231 missense 0.671 possibly damaging 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,TOPMed,gnomAD rs370701049 6p21.33 6 31744296T> C null M T 232 232 missense 0.0 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs767345603 6p21.33 6 31744546G> T null L F 233 233 missense 0.894 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1581517780 6p21.33 6 31744547A> G null T A 234 234 missense 0.115 benign 0.58 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs755523006 6p21.33 6 31744560A> G null N S 238 238 missense 0.0 benign 0.54 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1337020273 6p21.33 6 31744562A> G null I V 239 239 missense 0.009 benign 0.29 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1562221408 6p21.33 6 31744580A> T null S C 245 245 missense 0.017 benign 0.19 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1562222608 6p21.33 6 31745238G> A null V I 246 246 missense 0.893 possibly damaging 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1322704307 6p21.33 6 31745247A> G null I V 249 249 missense 0.997 probably damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1203863745 6p21.33 6 31745259G> T null E * 253 253 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs772006766 6p21.33 6 31745265C> T null H Y 255 255 missense 0.996 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs760408814 6p21.33 6 31745269C> T null P L 256 256 missense 0.996 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs202161678 6p21.33 6 31745268C> A null P T 256 256 0.0002 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs878903258 6p21.33 6 31745281A> T null K I 260 260 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs765777525 6p21.33 6 31745286G> T null A S 262 262 missense 0.012 benign 0.38 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1480408717 6p21.33 6 31745290G> A null S N 263 263 missense 0.261 benign 0.11 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs753440321 6p21.33 6 31745293G> A null G E 264 264 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs759951855 6p21.33 6 31745296T> G null L R 265 265 missense 0.244 benign 0.43 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs765804606 6p21.33 6 31745304G> A null G R 268 268 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1427727199 6p21.33 6 31745308T> G null L R 269 269 missense 0.672 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1374404021 6p21.33 6 31745313C> G null L V 271 271 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs758709925 6p21.33 6 31745317T> G null F C 272 272 missense 0.989 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1342775439 6p21.33 6 31747392C> T null L F 275 275 missense 0.982 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1463325219 6p21.33 6 31747397C> A null N K 276 276 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs775716730 6p21.33 6 31747400A> T null R S 277 277 missense 0.957 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs927297718 6p21.33 6 31747408G> C null C S 280 280 missense 0.007 benign 0.66 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1282907122 6p21.33 6 31747411A> C null K T 281 281 missense 0.047 benign 0.23 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs760225808 6p21.33 6 31747415G> A null W * 282 282 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1366942259 6p21.33 6 31747417G> A null G E 283 283 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs770677623 6p21.33 6 31747429T> A null L H 287 287 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs770677623 6p21.33 6 31747429T> G null L R 287 287 missense 0.993 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1581540487 6p21.33 6 31753303T> A null L Q 289 289 missense 0.122 benign 0.4 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs763435940 6p21.33 6 31753306G> T null W L 290 290 missense 0.993 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,TOPMed,gnomAD rs144471639 6p21.33 6 31753314C> T null R C 293 293 missense 0.991 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,gnomAD rs372287164 6p21.33 6 31753315G> A null R H 293 293 missense 0.987 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs774724163 6p21.33 6 31753318C> T null P L 294 294 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,gnomAD rs142533600 6p21.33 6 31753323C> A null H N 296 296 missense 0.0 benign 0.27 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs527471080 6p21.33 6 31753324A> G null H R 296 296 0.0002 missense 0.0 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,gnomAD rs142533600 cosmic curated [Cosmic]: urinary_tract cosmic_study:413 6p21.33 6 31753323C> T null H Y 296 296 missense 0.013 benign 0.06 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs548939028 6p21.33 6 31753330T> C null L P 298 298 0.0002 missense 0.958 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1200625278 6p21.33 6 31753332G> A null G R 299 299 missense 0.003 benign 0.51 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1200625278 6p21.33 6 31753332G> C null G R 299 299 missense 0.003 benign 0.51 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1245163682 6p21.33 6 31753335G> A null E K 300 300 missense 0.39 benign 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1312556857 6p21.33 6 31753341A> G null S G 302 302 missense 0.0 benign 0.13 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs200237441 6p21.33 6 31753343T> G null S R 302 302 missense 0.003 benign 0.3 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1047906074 6p21.33 6 31753344T> C null S P 303 303 missense 0.662 possibly damaging 0.14 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs777829104 cosmic curated [Cosmic]: breast cosmic_study:414 6p21.33 6 31753347C> T null R C 304 304 missense 1.0 probably damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs746903566 cosmic curated [Cosmic]: endometrium cosmic_study:419 6p21.33 6 31753348G> A null R H 304 304 missense 1.0 probably damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs746903566 6p21.33 6 31753348G> T null R L 304 304 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs145519200 6p21.33 6 31753356G> A null V I 307 307 0.0002 missense 0.705 possibly damaging 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs745544583 6p21.33 6 31753359A> G null I V 308 308 missense 0.355 benign 0.17 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs146418933 6p21.33 6 31753364G> T null Q H 309 309 missense 0.0 benign 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs769381856 6p21.33 6 31753363A> C null Q P 309 309 missense 0.127 benign 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs769381856 6p21.33 6 31753363A> G null Q R 309 309 missense 0.003 benign 0.42 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs748865335 6p21.33 6 31753371C> G null L V 312 312 missense 0.122 benign 0.16 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs774971042 6p21.33 6 31753381A> C null Q P 315 315 missense 0.641 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138219906 6p21.33 6 31753389G> T null D Y 318 318 0.000399 missense 0.971 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1347323946 6p21.33 6 31753392A> T null M L 319 319 missense 0.001 benign 0.32 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1347323946 6p21.33 6 31753392A> C null M L 319 319 missense 0.001 benign 0.32 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1334648863 6p21.33 6 31753393T> C null M T 319 319 missense 0.0 benign 0.73 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1406257671 6p21.33 6 31753399A> G null Q R 321 321 missense 0.009 benign 0.5 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1448456133 6p21.33 6 31753408A> G null H R 324 324 missense 0.049 benign 0.26 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1269438723 6p21.33 6 31753411G> A null R Q 325 325 missense 0.114 benign 0.23 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1009005943 6p21.33 6 31753410C> T null R W 325 325 missense 0.888 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs767954064 6p21.33 6 31753419G> A null G S 328 328 missense 0.009 benign 0.39 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1191323707 6p21.33 6 31753422C> A null H N 329 329 missense 0.007 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs773398484 6p21.33 6 31753424C> A null H Q 329 329 missense 0.049 benign 0.15 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs56200818 6p21.33 6 31753425A> G null I V 330 330 missense 0.47 possibly damaging 0.25 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,gnomAD rs377707567 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:24325359,cosmic_study:562 6p21.33 6 31753434G> A null V M 333 333 missense 0.526 possibly damaging 0.11 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs755163320 6p21.33 6 31753437C> T null P S 334 334 missense 0.73 possibly damaging 0.14 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,gnomAD rs146730825 6p21.33 6 31753570A> G null I V 336 336 missense 0.383 benign 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs753519199 6p21.33 6 31753579C> T null R C 339 339 missense 0.996 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs923694243 cosmic curated [Cosmic]: large_intestine pubmed:22810696,cosmic_study:376 6p21.33 6 31753580G> A null R H 339 339 missense 0.991 probably damaging 0.06 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1296509917 6p21.33 6 31753584G> T null M I 340 340 missense 0.692 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1298630548 6p21.33 6 31753582A> G null M V 340 340 missense 0.676 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1364555108 6p21.33 6 31753585A> C null K Q 341 341 missense 0.019 benign 0.26 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs778496445 6p21.33 6 31753586A> C null K T 341 341 missense 0.001 benign 0.45 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs747543231 6p21.33 6 31753590G> C null L F 342 342 missense 0.023 benign 0.19 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs771603486 6p21.33 6 31753596C> G null H Q 344 344 missense 0.003 benign 0.26 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs771603486 6p21.33 6 31753596C> A null H Q 344 344 missense 0.003 benign 0.26 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1234557320 6p21.33 6 31753598C> A null T N 345 345 missense 0.037 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1279458314 6p21.33 6 31753601A> C null K T 346 346 missense 0.555 possibly damaging 0.11 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1352217266 6p21.33 6 31753603G> T null V F 347 347 missense 0.655 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1352217266 6p21.33 6 31753603G> A null V I 347 347 missense 0.026 benign 0.44 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1219232275 6p21.33 6 31753607G> C null S T 348 348 missense 0.017 benign 0.32 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1384916782 6p21.33 6 31753609G> A null D N 349 349 missense 0.566 possibly damaging 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1490228829 6p21.33 6 31753613G> T null W L 350 350 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs920614234 6p21.33 6 31753615C> T null Q * 351 351 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28399976 6p21.33 6 31758201C> G null R G 351 351 0.01478 missense 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1208301082 6p21.33 6 31753619T> G null V G 352 352 missense 0.006 benign 0.48 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs747492678 6p21.33 6 31753625A> G null Y C 354 354 missense 0.927 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs771456934 6p21.33 6 31753627A> G null K E 355 355 missense 0.056 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs975768398 6p21.33 6 31758169T> C null V A 357 357 missense 0.027 benign 0.27 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1024218277 6p21.33 6 31758174A> G null S G 359 359 missense 0.441 benign 0.2 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC rs770182829 6p21.33 6 31758177G> T null A S 360 360 missense 0.988 probably damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs968149872 6p21.33 6 31758181T> C null L P 361 361 missense 0.943 probably damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC rs775624062 6p21.33 6 31758183G> A null G S 362 362 missense 0.399 benign 0.42 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1379130675 6p21.33 6 31758190G> C null R T 364 364 missense 0.631 possibly damaging 0.14 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1332664728 6p21.33 6 31758189A> T null R W 364 364 missense 0.975 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1309712663 6p21.33 6 31758192G> A null D N 365 365 missense 0.212 benign 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs28399976 6p21.33 6 31758201C> T null R C 368 368 0.01478 missense 0.009 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1226966371 6p21.33 6 31758202G> A null R H 368 368 missense 0.896 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1243252622 6p21.33 6 31758205C> T null S F 369 369 missense 0.857 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC rs776624759 6p21.33 6 31758211C> T null P L 371 371 missense 0.995 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1252357006 6p21.33 6 31758210C> A null P T 371 371 missense 0.992 probably damaging 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,gnomAD rs150348946 6p21.33 6 31758214A> G null Q R 372 372 missense 0.503 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs765055098 6p21.33 6 31758217C> T null S F 373 373 missense 0.739 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs752328105 6p21.33 6 31758224G> C null Q H 375 375 missense 0.007 benign 0.18 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC rs758024890 6p21.33 6 31758225C> G null L V 376 376 missense 0.861 possibly damaging 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28399977 6p21.33 6 31758279C> T null L F 377 377 0.004992 missense 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs145281780 cosmic curated [Cosmic]: large_intestine cosmic_study:376 6p21.33 6 31758232G> A null R Q 378 378 missense 0.0 benign 0.54 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs767522105 6p21.33 6 31758231C> T null R W 378 378 missense 0.505 possibly damaging 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs781779688 6p21.33 6 31758234G> A null D N 379 379 missense 0.268 benign 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs746365164 6p21.33 6 31758237A> G null I V 380 380 missense 0.227 benign 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1425099380 6p21.33 6 31758244A> C null Q P 382 382 missense 0.169 benign 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1202606859 6p21.33 6 31758267C> T null H Y 390 390 missense 0.007 benign 0.9 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs371214465 6p21.33 6 31758270A> G null I V 391 391 missense 0.355 benign 0.11 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs752626267 6p21.33 6 31758273G> A null A T 392 392 missense 0.596 possibly damaging 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1581555433 6p21.33 6 31758277G> T null S I 393 393 missense 0.153 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1309652288 6p21.33 6 31758280T> C null L P 394 394 missense 0.991 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs905227820 6p21.33 6 31758284T> G null I M 395 395 missense 0.991 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs774416976 6p21.33 6 31758283T> A null I N 395 395 missense 0.988 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs774416976 6p21.33 6 31758283T> C null I T 395 395 missense 0.793 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1219316667 6p21.33 6 31758292T> C null V A 398 398 missense 0.948 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs748346009 6p21.33 6 31758558A> G null E G 402 402 missense 0.936 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1225712829 6p21.33 6 31758563A> G null S G 404 404 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1426472892 6p21.33 6 31758569G> C null A P 406 406 missense 0.881 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs772174876 6p21.33 6 31758578C> T null R C 409 409 missense 0.059 benign 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs772174876 6p21.33 6 31758578C> G null R G 409 409 missense 0.803 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs777865774 6p21.33 6 31758579G> A null R H 409 409 missense 0.037 benign 0.11 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs777865774 6p21.33 6 31758579G> T null R L 409 409 missense 0.748 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs772174876 6p21.33 6 31758578C> A null R S 409 409 missense 0.748 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs745810613 6p21.33 6 31758585C> G null T R 411 411 missense 0.982 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1318922901 6p21.33 6 31758593C> T null P S 414 414 missense 0.555 possibly damaging 0.23 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs908424021 6p21.33 6 31758600T> C null I T 416 416 missense 0.818 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs982649663 6p21.33 6 31758599A> G null I V 416 416 missense 0.037 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs768549863 6p21.33 6 31758608G> A null E K 419 419 missense 0.047 benign 0.59 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs774188697 6p21.33 6 31758619G> C null E D 422 422 missense 0.085 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1045289075 6p21.33 6 31758769A> G null K R 424 424 missense 0.929 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs772734061 6p21.33 6 31758771C> T null R * 425 425 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs760288512 cosmic curated [Cosmic]: endometrium cosmic_study:419 6p21.33 6 31758772G> A null R Q 425 425 missense 0.936 probably damaging 0.04 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1438957659 6p21.33 6 31758778T> C null L P 427 427 missense 0.916 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs201036343 6p21.33 6 31758783G> C null G R 429 429 missense 0.793 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs759991582 6p21.33 6 31758790C> T null P L 431 431 missense 0.971 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs752995567 6p21.33 6 31758792A> G null S G 432 432 missense 0.029 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs371674135 6p21.33 6 31758797C> A null F L 433 433 missense 0.103 benign 0.27 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1464099616 6p21.33 6 31758798C> T null L F 434 434 missense 0.995 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1172989243 6p21.33 6 31758804G> A null E K 436 436 missense 0.069 benign 0.36 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1400939483 6p21.33 6 31758813C> T null R C 439 439 missense 0.785 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed rs764436774 6p21.33 6 31758814G> A null R H 439 439 missense 0.641 possibly damaging 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1475124754 6p21.33 6 31758834G> A null D N 446 446 missense 0.227 benign 0.21 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs749261273 6p21.33 6 31758840C> T null R C 448 448 missense 0.015 benign 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs146419845 cosmic curated [Cosmic]: large_intestine cosmic_study:376 6p21.33 6 31758841G> A null R H 448 448 missense 0.006 benign 0.21 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs146419845 6p21.33 6 31758841G> T null R L 448 448 missense 0.198 benign 0.13 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs996971599 6p21.33 6 31758855A> G null S G 453 453 missense 0.275 benign 0.22 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs748022464 6p21.33 6 31758865A> G null Y C 456 456 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1270579111 6p21.33 6 31759110T> C null L P 464 464 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs746692254 6p21.33 6 31759109C> G null L V 464 464 missense 0.935 probably damaging 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs770429409 6p21.33 6 31759113C> T null S F 465 465 missense 0.061 benign 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1562245683 6p21.33 6 31759116T> C null I T 466 466 missense 0.74 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1454707671 6p21.33 6 31759119C> T null P L 467 467 missense 0.975 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs568198414 6p21.33 6 31759118C> T null P S 467 467 0.0002 missense 0.95 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs535334486 6p21.33 6 31759121C> T null R C 468 468 0.0002 missense 0.134 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,TOPMed,gnomAD rs139002853 6p21.33 6 31759122G> A null R H 468 468 missense 0.959 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1374809697 6p21.33 6 31759124C> G null L V 469 469 missense 0.19 benign 0.3 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1158900357 6p21.33 6 31759128C> T null P L 470 470 missense 0.1 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1283350101 6p21.33 6 31759136G> C null V L 473 473 missense 0.045 benign 0.27 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1384543060 6p21.33 6 31759142G> A null A T 475 475 missense 0.001 benign 0.43 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs776019613 6p21.33 6 31759143C> T null A V 475 475 missense 0.047 benign 0.13 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1226327125 6p21.33 6 31759158T> G null I S 480 480 missense 0.928 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1352005880 6p21.33 6 31759164G> A null G E 482 482 missense 0.995 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs769090092 6p21.33 6 31759177G> A null M I 486 486 missense 0.077 benign 0.14 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1007207158 6p21.33 6 31759175A> G null M V 486 486 missense 0.022 benign 0.29 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl,dbSNP rs1060505055 [ClinVar]: Premature ovarian failure 13, [UniProt]: POF13; decreased function in DNA repair as suggested by the persistence of gamma-H2AX foci following cell treatment with etoposide pubmed:28175301 pubmed:28175301 6p21.33 6 31759476G> T null D Y 487 487 missense 0 Premature ovarian failure 13 (POF13) MIM:617442 ClinVar:RCV000477966 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl,dbSNP rs1060505055 [ClinVar]: Premature ovarian failure 13, [UniProt]: POF13; decreased function in DNA repair as suggested by the persistence of gamma-H2AX foci following cell treatment with etoposide pubmed:28175301 pubmed:28175301 6p21.33 6 31759476G> T null D Y 487 487 missense 0 Premature ovarian failure 13 (POF13) An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. MIM:617442 pubmed:28175301 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs752708451 6p21.33 6 31759432C> T null S L 489 489 missense 0.038 benign 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1331227391 6p21.33 6 31759437G> A null E K 491 491 missense 0.156 benign 0.13 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs777634800 6p21.33 6 31759452C> T null R C 496 496 missense 0.984 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs751243553 6p21.33 6 31759453G> A null R H 496 496 missense 0.984 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs757036190 6p21.33 6 31759461C> T null R * 499 499 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs143329989 6p21.33 6 31759462G> A null R Q 499 499 missense 0.942 probably damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1242899154 6p21.33 6 31759465C> T null T I 500 500 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1389491312 6p21.33 6 31759468A> G null K R 501 501 missense 0.033 benign 0.29 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1267249402 6p21.33 6 31759470G> A null E K 502 502 missense 0.883 possibly damaging 0.05 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1335582081 6p21.33 6 31759473C> G null L V 503 503 missense 0.983 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs564465985 6p21.33 6 31759485C> A null L M 507 507 missense 0.991 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs936923027 6p21.33 6 31759500T> C null C R 512 512 missense 0.7 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs372570974 6p21.33 6 31759503G> A null E K 513 513 missense 0.046 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs768980200 6p21.33 6 31759509C> G null R G 515 515 missense 0.841 possibly damaging 0.23 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs774915854 6p21.33 6 31759510G> A null R Q 515 515 missense 0.906 possibly damaging 0.24 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs768980200 6p21.33 6 31759509C> T null R W 515 515 missense 0.967 probably damaging 0.13 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1364214339 6p21.33 6 31759787C> A null D E 516 516 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs369328784 6p21.33 6 31759786A> G null D G 516 516 missense 0.997 probably damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,gnomAD rs375240305 6p21.33 6 31759512G> T null D Y 516 516 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs758506140 6p21.33 6 31759788C> G null Q E 517 517 missense 0.19 benign 0.24 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1581560453 6p21.33 6 31759793G> C null E D 518 518 missense 0.981 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1203566834 6p21.33 6 31759791G> A null E K 518 518 missense 0.972 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs751781847 6p21.33 6 31759795C> T null T M 519 519 missense 0.333 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs747243519 6p21.33 6 31759798T> C null L P 520 520 missense 0.015 benign 0.26 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs568300022 6p21.33 6 31759805G> A null M I 522 522 0.0002 missense 0.382 benign 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs776904194 6p21.33 6 31759824G> A null V M 529 529 missense 0.933 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1157148220 6p21.33 6 31759827C> A null L M 530 530 missense 0.861 possibly damaging 0.05 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1485891206 6p21.33 6 31759831C> T null A V 531 531 missense 0.19 benign 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs765331052 6p21.33 6 31759833C> T null R * 532 532 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs141972312 6p21.33 6 31759834G> A null R Q 532 532 missense 0.807 possibly damaging 0.14 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs761693917 6p21.33 6 31759839G> C null A P 534 534 missense 0.003 benign 0.29 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1396095125 6p21.33 6 31759842G> A null V I 535 535 missense 0.311 benign 0.16 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs766003915 6p21.33 6 31759851C> T null R * 538 538 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs766003915 6p21.33 6 31759851C> G null R G 538 538 missense 0.283 benign 0.11 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1431554863 6p21.33 6 31759852G> T null R L 538 538 missense 0.283 benign 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1431554863 6p21.33 6 31759852G> A null R Q 538 538 missense 0.072 benign 0.44 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1293085972 6p21.33 6 31759854G> A null V I 539 539 missense 0.61 possibly damaging 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1293085972 6p21.33 6 31759854G> T null V L 539 539 missense 0.383 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1431998328 6p21.33 6 31759863C> T null L F 542 542 missense 0.038 benign 0.19 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs748684293 6p21.33 6 31759869T> G null S A 544 544 missense 0.007 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1237740792 6p21.33 6 31759872C> T null R C 545 545 missense 0.911 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs898926429 6p21.33 6 31759873G> A null R H 545 545 missense 0.015 benign 0.25 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1220175817 6p21.33 6 31759879A> G null D G 547 547 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1479375303 6p21.33 6 31759881G> A null V I 548 548 missense 0.666 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1377935239 6p21.33 6 31759897C> G null A G 553 553 missense 0.599 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1201329599 6p21.33 6 31759896G> A null A T 553 553 missense 0.956 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs370037482 6p21.33 6 31759900G> C null S T 554 554 missense 0.045 benign 0.34 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1254227017 6p21.33 6 31759903C> T null A V 555 555 missense 0.069 benign 0.85 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1156485091 6p21.33 6 31759908C> T null R W 557 557 missense 0.993 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs771307170 6p21.33 6 31759915A> G null Y C 559 559 missense 0.957 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs776761232 6p21.33 6 31759917G> C null G R 560 560 missense 0.918 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs746066292 6p21.33 6 31759922C> A null Y * 561 561 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs895721974 6p21.33 6 31759921A> G null Y C 561 561 missense 0.991 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs368545412 6p21.33 6 31759930C> T null P L 564 564 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs767511035 6p21.33 6 31759932C> T null R C 565 565 missense 0.003 benign 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs773121271 6p21.33 6 31759933G> A null R H 565 565 missense 0.0 benign 0.32 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs773121271 6p21.33 6 31759933G> T null R L 565 565 missense 0.052 benign 0.23 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1562247553 6p21.33 6 31759942C> T null P L 568 568 missense 0.018 benign 0.19 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1326460511 6p21.33 6 31759944C> A null Q K 569 569 missense 0.0 benign 0.58 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs867653729 6p21.33 6 31759950C> A null L I 571 571 missense 0.047 benign 0.39 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1376133619 6p21.33 6 31759953G> A null G R 572 572 missense 0.026 benign 0.65 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1444287107 6p21.33 6 31759956G> A null V I 573 573 missense 0.018 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs966796074 cosmic curated [Cosmic]: breast cosmic_study:414 6p21.33 6 31759960G> A null R Q 574 574 missense 0.304 benign 0.32 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs766164563 6p21.33 6 31759969A> G null N S 577 577 missense 0.029 benign 0.41 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs753464395 6p21.33 6 31759972G> T null G V 578 578 missense 0.968 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1209913246 6p21.33 6 31760092A> G null H R 580 580 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs762594651 6p21.33 6 31760091C> T null H Y 580 580 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,TOPMed,gnomAD rs369122691 6p21.33 6 31760101T> C null M T 583 583 missense 0.047 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1188665133 6p21.33 6 31760103G> A null E K 584 584 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1423023899 6p21.33 6 31760106C> T null L F 585 585 missense 0.727 possibly damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP rs372527730 6p21.33 6 31760110G> A null C Y 586 586 missense 0.977 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs752139216 6p21.33 6 31760115C> T null R * 588 588 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs757728679 6p21.33 6 31760116G> A null R Q 588 588 missense 0.154 benign 0.52 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs781415195 6p21.33 6 31760119C> T null T I 589 589 missense 0.673 possibly damaging 0.34 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1376829405 6p21.33 6 31760122T> G null F C 590 590 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1581562187 6p21.33 6 31760121T> G null F V 590 590 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1439080670 6p21.33 6 31760125T> G null V G 591 591 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1415037901 6p21.33 6 31760124G> A null V M 591 591 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs780305341 6p21.33 6 31760140A> C null E A 596 596 missense 0.007 benign 0.62 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs45468693 6p21.33 6 31760142T> G null C G 597 597 0.002796 missense 0.047 benign 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs768752717 6p21.33 6 31760146G> A null G D 598 598 missense 0.009 benign 0.22 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs768752717 6p21.33 6 31760146G> T null G V 598 598 missense 0.206 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1218999283 6p21.33 6 31760151G> T null D Y 600 600 missense 0.735 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs778914313 6p21.33 6 31760158G> A null G E 602 602 missense 0.045 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs746932578 6p21.33 6 31760164T> A null V D 604 604 missense 0.942 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1228678047 6p21.33 6 31760167A> G null K R 605 605 missense 0.082 benign 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1242628907 6p21.33 6 31760169G> A null V I 606 606 missense 0.01 benign 0.76 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1581562530 6p21.33 6 31760172A> G null I V 607 607 missense 0.21 benign 0.12 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs770830813 6p21.33 6 31760175A> C null T P 608 608 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs776424705 6p21.33 6 31760178G> A null G R 609 609 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1434911254 6p21.33 6 31760182C> G null P R 610 610 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1396690527 6p21.33 6 31760181C> T null P S 610 610 missense 0.991 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1157646234 6p21.33 6 31760185A> T null N I 611 611 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1157646234 6p21.33 6 31760185A> G null N S 611 611 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs769686810 6p21.33 6 31760188C> T null S L 612 612 missense 0.857 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1318481233 6p21.33 6 31760198G> C null K N 615 615 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1024841664 6p21.33 6 31760205T> C null Y H 618 618 missense 0.981 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61748589 6p21.33 6 31760212A> G null K R 620 620 0.001597 missense 0.995 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1308996881 6p21.33 6 31760690G> A null V I 622 622 missense 0.05 benign 0.26 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs758391199 6p21.33 6 31760701C> G null I M 625 625 missense 0.889 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs781237213 6p21.33 6 31760706T> A null F Y 627 627 missense 0.671 possibly damaging 0.34 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs745755479 6p21.33 6 31760714C> A null L M 630 630 missense 0.671 possibly damaging 0.19 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs769736864 6p21.33 6 31760732C> G null P A 636 636 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs775371109 6p21.33 6 31760743G> C null E D 639 639 missense 0.075 benign 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs748958256 6p21.33 6 31760744G> A null A T 640 640 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs773862644 6p21.33 6 31760747G> A null E K 641 641 missense 0.03 benign 0.2 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1420450908 6p21.33 6 31760752T> G null I M 642 642 missense 0.942 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs529144916 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 6p21.33 6 31760757C> T null A V 644 644 0.0002 missense 0.001 benign 1.0 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,TOPMed rs367550649 6p21.33 6 31760759G> C null V L 645 645 missense 0.104 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs569026702 6p21.33 6 31760765G> A null A T 647 647 0.0002 missense 0.692 possibly damaging 0.12 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1397242192 6p21.33 6 31760770C> G null I M 648 648 missense 0.904 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs766742261 cosmic curated [Cosmic]: breast, [Cosmic]: large_intestine cosmic_study:376,cosmic_study:414 6p21.33 6 31760778G> A null R Q 651 651 missense 0.997 probably damaging 0.01 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1297918100 6p21.33 6 31760780A> G null I V 652 652 missense 0.227 benign 0.22 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs754134814 6p21.33 6 31760784A> G null H R 653 653 missense 0.673 possibly damaging 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs139795131 6p21.33 6 31760791C> A null C * 655 655 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs765549669 6p21.33 6 31760792G> A null E K 656 656 missense 0.827 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1231521758 6p21.33 6 31760822A> G null M V 666 666 missense 0.596 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs758542821 6p21.33 6 31760828G> A null D N 668 668 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1217960899 6p21.33 6 31760835A> G null N S 670 670 missense 0.639 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1217960899 6p21.33 6 31760835A> C null N T 670 670 missense 0.945 probably damaging 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs971199165 6p21.33 6 31761191G> A null A T 673 673 missense 0.95 probably damaging 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs751759812 6p21.33 6 31761192C> T null A V 673 673 missense 0.803 possibly damaging 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1171491067 6p21.33 6 31761204A> T null N I 677 677 missense 0.977 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs753796312 6p21.33 6 31761205C> A null N K 677 677 missense 0.455 possibly damaging 0.05 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1171491067 6p21.33 6 31761204A> G null N S 677 677 missense 0.857 possibly damaging 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs754835753 6p21.33 6 31761206A> T null N Y 678 678 missense 0.047 benign 0.19 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs747848552 6p21.33 6 31761219A> G null Q R 682 682 missense 0.0 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1287197549 6p21.33 6 31761222C> T null S L 683 683 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs777477382 6p21.33 6 31761234T> C null I T 687 687 missense 0.804 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1302365717 6p21.33 6 31761237A> G null D G 688 688 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs746576082 cosmic curated [Cosmic]: endometrium cosmic_study:419 6p21.33 6 31761239G> T null E * 689 689 missense 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs143496126 6p21.33 6 31761240A> C null E A 689 689 missense 0.995 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs746576082 6p21.33 6 31761239G> A null E K 689 689 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs935670710 6p21.33 6 31761242T> C null F L 690 690 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs777160024 6p21.33 6 31761251G> A null G R 693 693 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs371336753 6p21.33 6 31761261C> T null T M 696 696 missense 0.769 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs777447655 6p21.33 6 31761472G> T null V L 697 697 missense 0.011 benign 0.14 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs780625907 6p21.33 6 31761485C> A null A E 701 701 missense 0.503 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs780625907 6p21.33 6 31761485C> G null A G 701 701 missense 0.063 benign 0.15 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs561487480 6p21.33 6 31761484G> C null A P 701 701 0.0002 missense 0.764 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs561487480 6p21.33 6 31761484G> A null A T 701 701 0.0002 missense 0.294 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs780625907 6p21.33 6 31761485C> T null A V 701 701 missense 0.452 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1452325739 6p21.33 6 31761487C> T null L F 702 702 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,dbSNP,gnomAD rs752657544 [UniProt]: POF13; unknown pathological significance pubmed:28175301 6p21.33 6 31761541A> G null I V 703 703 missense 0 Premature ovarian failure 13 (POF13) An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. MIM:617442 pubmed:28175301 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs923587532 6p21.33 6 31761496G> A null A T 705 705 missense 0.433 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs375591471 cosmic curated [Cosmic]: liver cosmic_study:323 6p21.33 6 31761505C> T null R * 708 708 missense 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs201166095 6p21.33 6 31761506G> T null R L 708 708 missense 0.255 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs201166095 6p21.33 6 31761506G> C null R P 708 708 missense 0.68 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs201166095 6p21.33 6 31761506G> A null R Q 708 708 missense 0.025 benign 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs750458730 6p21.33 6 31761510C> G null H Q 709 709 missense 0.881 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs760800506 6p21.33 6 31761520C> T null R C 713 713 missense 0.471 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs200755245 6p21.33 6 31761521G> A null R H 713 713 0.0002 missense 0.309 benign 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1292837626 6p21.33 6 31761538C> T null H Y 719 719 missense 0.635 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs931839218 6p21.33 6 31761559T> A null F I 726 726 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs780820087 6p21.33 6 31761589C> T null P S 736 736 missense 0.992 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs745428814 6p21.33 6 31761593A> G null Q R 737 737 missense 0.001 benign 0.34 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs957004773 6p21.33 6 31761595G> A null G R 738 738 missense 0.662 possibly damaging 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs148479115 6p21.33 6 31761599C> T null P L 739 739 missense 0.471 possibly damaging 0.18 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs748578129 6p21.33 6 31761822T> C null M T 746 746 missense 0.263 benign 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs779556401 6p21.33 6 31761821A> G null M V 746 746 missense 0.596 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs773345589 6p21.33 6 31761831G> C null C S 749 749 missense 0.076 benign 0.21 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs773345589 6p21.33 6 31761831G> A null C Y 749 749 missense 0.076 benign 0.48 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs770936535 6p21.33 6 31761833G> A null E K 750 750 missense 0.108 benign 0.66 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1315155376 6p21.33 6 31761836G> T null D Y 751 751 missense 0.839 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs911714366 6p21.33 6 31761843A> G null N S 753 753 missense 0.03 benign 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs776713339 6p21.33 6 31761845G> C null D H 754 754 missense 0.837 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs776713339 6p21.33 6 31761845G> A null D N 754 754 missense 0.048 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs776713339 6p21.33 6 31761845G> T null D Y 754 754 missense 0.884 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs764077523 6p21.33 6 31761851G> T null V F 756 756 missense 0.824 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs761636864 6p21.33 6 31761854T> C null F L 757 757 missense 0.94 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1248622175 6p21.33 6 31761859C> G null F L 758 758 missense 0.001 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1217823336 6p21.33 6 31761857T> C null F L 758 758 missense 0.001 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs767263679 6p21.33 6 31761861A> G null Y C 759 759 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs767263679 6p21.33 6 31761861A> T null Y F 759 759 missense 0.717 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1562251778 6p21.33 6 31761864A> G null Q R 760 760 missense 0.014 benign 0.2 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs750069319 6p21.33 6 31761872G> A null E K 763 763 missense 0.01 benign 0.15 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs760320865 6p21.33 6 31761879T> C null V A 765 765 missense 0.075 benign 0.21 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs566679964 6p21.33 6 31761882C> T null A V 766 766 0.000399 missense 0.184 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs754518812 6p21.33 6 31761887G> C null A P 768 768 missense 0.662 possibly damaging 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs753220603 6p21.33 6 31761893C> A null H N 770 770 missense 0.799 possibly damaging 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs758863824 6p21.33 6 31761894A> G null H R 770 770 missense 0.772 possibly damaging 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs778148878 6p21.33 6 31761897C> T null A V 771 771 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1581568470 6p21.33 6 31761909C> T null A V 775 775 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1348605243 6p21.33 6 31761912C> A null A D 776 776 missense 0.534 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1225595574 6p21.33 6 31761916G> C null Q H 777 777 missense 0.878 possibly damaging 0.24 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1268689405 6p21.33 6 31761921G> A null G E 779 779 missense 0.906 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1467983020 6p21.33 6 31761924T> C null L P 780 780 missense 0.989 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs771253756 6p21.33 6 31761927C> T null P L 781 781 missense 0.991 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1211533286 6p21.33 6 31761926C> T null P S 781 781 missense 0.987 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1180604122 6p21.33 6 31761931C> G null D E 782 782 missense 0.0 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1180604122 6p21.33 6 31761931C> A null D E 782 782 missense 0.0 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1451775630 6p21.33 6 31761930A> G null D G 782 782 missense 0.018 benign 0.33 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs781259202 6p21.33 6 31761932A> G null K E 783 783 missense 0.001 benign 0.88 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1159342042 6p21.33 6 31761934G> T null K N 783 783 missense 0.029 benign 0.42 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1470869937 6p21.33 6 31761933A> C null K T 783 783 missense 0.029 benign 0.41 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs745997271 6p21.33 6 31761936T> C null L P 784 784 missense 0.958 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1449784203 6p21.33 6 31761938G> A null V M 785 785 missense 0.369 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1802127 6p21.33 6 31762148C> T null P S 786 786 0.04732 missense 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs769834225 cosmic curated [Cosmic]: large_intestine cosmic_study:376 6p21.33 6 31761945G> A null R H 787 787 missense 1.0 probably damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs769834225 6p21.33 6 31761945G> C null R P 787 787 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1394531726 6p21.33 6 31762116C> T null S L 792 792 missense 0.992 probably damaging 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs142634264 6p21.33 6 31762127C> T null R C 796 796 missense 0.21 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs142634264 6p21.33 6 31762127C> G null R G 796 796 missense 0.842 possibly damaging 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148601889 6p21.33 6 31762128G> A null R H 796 796 0.0002 missense 0.077 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1413060919 6p21.33 6 31762134G> C null G A 798 798 missense 0.788 possibly damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs772116642 6p21.33 6 31762157G> A null D N 806 806 missense 0.001 benign 0.2 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs146473863 6p21.33 6 31762163C> G null L V 808 808 missense 0.0 benign 0.51 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1484396931 6p21.33 6 31762166A> C null K Q 809 809 missense 0.109 benign 0.27 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1202856417 6p21.33 6 31762172A> G null N D 811 811 missense 0.0 benign 0.53 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs573697229 6p21.33 6 31762174C> A null N K 811 811 0.000799 missense 0.0 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs538970548 6p21.33 6 31762178A> C null M L 813 813 0.0002 missense 0.001 benign 0.47 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs759215400 6p21.33 6 31762185A> G null N S 815 815 missense 0.075 benign 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs866903702 6p21.33 6 31762433G> C null V L 820 820 missense 0.717 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs866903702 6p21.33 6 31762433G> A null V M 820 820 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs952525164 6p21.33 6 31762441G> C null K N 822 822 missense 0.268 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs770781686 6p21.33 6 31762444T> A null F L 823 823 missense 0.972 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs200703636 6p21.33 6 31762447G> C null M I 824 824 missense 0.007 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1363750231 6p21.33 6 31762446T> C null M T 824 824 missense 0.054 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs147878532 6p21.33 6 31762448A> T null K * 825 825 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP rs141493879 6p21.33 6 31762456T> A null D E 827 827 missense 0.961 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1562253176 6p21.33 6 31762454G> T null D Y 827 827 missense 0.991 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs189410690 6p21.33 6 31762457T> A null L M 828 828 0.0002 missense 1.0 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1453194999 6p21.33 6 31762462A> T null E D 829 829 missense 0.039 benign 0.73 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs775261672 6p21.33 6 31762460G> A null E K 829 829 missense 0.858 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1298811565 6p21.33 6 31762470A> G null N S 832 832 missense 0.0 benign 0.84 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1287035563 6p21.33 6 31762476A> G null D G 834 834 missense 0.758 possibly damaging 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs984858871 6p21.33 6 31762478T> A null L M 835 835 missense 0.982 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs763472304 cosmic curated [Cosmic]: breast cosmic_study:414 6p21.33 6 31762484G> A null V I 837 837 missense 0.0 benign 0.19 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes rs199880617 6p21.33 6 31762490A> G null M V 839 839 0.0002 missense 0.023 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs774946202 6p21.33 6 31762496C> G null Q E 841 841 missense 0.012 benign 0.73 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1220631009 6p21.33 6 31762520A> G null S G 849 849 missense 0.001 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1301597352 6p21.33 6 31762521G> A null S N 849 849 missense 0.073 benign 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1301597352 6p21.33 6 31762521G> C null S T 849 849 missense 0.001 benign 0.63 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs746046031 7q11.22 7 70764919C> G null A G 3 3 missense 0.996 probably damaging 0.13 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs772174582 7q11.22 7 70764921C> G null P A 4 4 missense 0.337 benign 0.53 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs772174582 7q11.22 7 70764921C> T null P S 4 4 missense 0.068 benign 0.29 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375248939 7q11.22 7 70764924C> G null P A 5 5 missense 0.814 possibly damaging 0.1 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375248939 cosmic curated [Cosmic]: skin pubmed:21984974,cosmic_study:357 7q11.22 7 70764924C> T null P S 5 5 missense 0.509 possibly damaging 0.49 tolerated - low confidence 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs769270137 7q11.22 7 70764931C> G null A G 7 7 missense 0.921 probably damaging 0.02 deleterious - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs769270137 7q11.22 7 70764931C> T null A V 7 7 missense 0.861 possibly damaging 0.02 deleterious - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs776933516 7q11.22 7 70764940C> T null P L 10 10 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1183920669 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 7q11.22 7 70764942C> T null P S 11 11 missense 0.998 probably damaging 0.08 tolerated - low confidence 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1319853511 7q11.22 7 70764949C> T null P L 13 13 missense 0.951 probably damaging 0.28 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1585650527 7q11.22 7 70764963A> G null S G 18 18 missense 0.0 benign 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs752310034 7q11.22 7 70764979G> C null G A 23 23 missense 0.625 possibly damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs767056271 7q11.22 7 70764978G> A null G R 23 23 missense 0.948 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1224095495 7q11.22 7 70764982A> T null H L 24 24 missense 0.36 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369919917 7q11.22 7 70764985C> T null P L 25 25 missense 0.913 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369919917 7q11.22 7 70764985C> G null P R 25 25 missense 0.965 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC rs780131403 7q11.22 7 70764991G> C null G A 27 27 missense 0.097 benign 0.36 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs772392460 7q11.22 7 70764990G> A null G R 27 27 missense 0.828 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1057521372 7q11.22 7 70766126T> C null L S 36 36 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1057517708 [ClinVar]: Autism spectrum disorder due to AUTS2 deficiency, [ClinVar]: Intellectual disability 7q11.22 7 70766128C> T null R * 37 37 stop gained 0 Autism spectrum disorder due to AUTS2 deficiency (MRD26) MIM:615834 ClinVar:RCV001841277 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1057517708 [ClinVar]: Autism spectrum disorder due to AUTS2 deficiency, [ClinVar]: Intellectual disability 7q11.22 7 70766128C> T null R * 37 37 stop gained 0 Intellectual disability pubmed:21956720,ClinVar:RCV001260885 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs781550695 7q11.22 7 70766141A> G null N S 41 41 missense 0.796 possibly damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,TOPMed,gnomAD rs371206262 7q11.22 7 70766164A> G null S G 49 49 missense 0.095 benign 0.21 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1288588789 7q11.22 7 70766168C> T null A V 50 50 missense 0.857 possibly damaging 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs930597957 7q11.22 7 70766173C> T null R C 52 52 missense 0.995 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs749711158 7q11.22 7 70766174G> A null R H 52 52 missense 0.995 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1194206626 7q11.22 7 70766177G> C null G A 53 53 missense 0.991 probably damaging 0.1 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs935766151 7q11.22 7 70766183C> G null S C 55 55 missense 0.989 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs746226084 7q11.22 7 70766192C> T null P L 58 58 missense 0.981 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,dbSNP rs1445762479 7q11.22 7 70766191C> T null P S 58 58 missense 0.74 possibly damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1184884717 7q11.22 7 70766194C> T null P S 59 59 missense 0.93 probably damaging 0.5 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs762837573 7q11.22 7 70766207G> A null R Q 63 63 missense 0.988 probably damaging 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1401136810 7q11.22 7 70766221C> G null Q E 68 68 missense 0.979 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1554481763 7q11.22 7 70766227C> T null Q * 70 70 stop gained 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1563183444 7q11.22 7 70766232C> G null H Q 71 71 missense 0.996 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs759371180 7q11.22 7 70766240A> G null Q R 74 74 missense 0.986 probably damaging 0.05 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1064795461 7q11.22 7 70766243A> T null H L 75 75 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1563183469 [ClinVar]: Corpus callosum, agenesis of, [ClinVar]: Congenital cerebellar hypoplasia 7q11.22 7 70766245A> C null T P 76 76 missense 0.961 probably damaging 0.13 tolerated 0 Autism spectrum disorder due to AUTS2 deficiency (MRD26) MIM:615834 ClinVar:RCV000779651 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1563183469 [ClinVar]: Corpus callosum, agenesis of, [ClinVar]: Congenital cerebellar hypoplasia 7q11.22 7 70766245A> C null T P 76 76 missense 0.961 probably damaging 0.13 tolerated 0 Congenital cerebellar hypoplasia (CHEGDD) MIM:213000 ClinVar:RCV001257949 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1563183469 [ClinVar]: Corpus callosum, agenesis of, [ClinVar]: Congenital cerebellar hypoplasia 7q11.22 7 70766245A> C null T P 76 76 missense 0.961 probably damaging 0.13 tolerated 0 Corpus callosum, agenesis of MIM:217990 ClinVar:RCV000779651 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1563183469 [ClinVar]: Corpus callosum, agenesis of, [ClinVar]: Congenital cerebellar hypoplasia 7q11.22 7 70766245A> C null T P 76 76 missense 0.961 probably damaging 0.13 tolerated 0 Multiple congenital anomalies (MCA) pubmed:20466091,ClinVar:RCV000779651 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1585653240 [ClinVar]: Autism spectrum disorder due to AUTS2 deficiency 7q11.22 7 70766249A> C null H P 77 77 missense 0.997 probably damaging 0.0 deleterious 0 Autism spectrum disorder due to AUTS2 deficiency (MRD26) MIM:615834 ClinVar:RCV000995503 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1057518986 [ClinVar]: Pierre Robin-like syndrome 7q11.22 7 70766250C> G null H Q 77 77 missense 0.996 probably damaging 0.02 deleterious 0 Pierre Robin-like syndrome ClinVar:RCV000415119 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1563183492 [ClinVar]: Autism spectrum disorder due to AUTS2 deficiency 7q11.22 7 70766248C> T null H Y 77 77 missense 0.991 probably damaging 0.0 deleterious 0 Autism spectrum disorder due to AUTS2 deficiency (MRD26) MIM:615834 ClinVar:RCV000708594 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1384139715 cosmic curated [Cosmic]: endometrium cosmic_study:419 7q11.22 7 70766258C> T null T M 80 80 missense 0.999 probably damaging 0.04 deleterious 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1585653278 7q11.22 7 70766269A> C null T P 84 84 missense 0.997 probably damaging 0.1 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,gnomAD rs542847697 7q11.22 7 70766278C> G null P A 87 87 0.0002 missense 0.999 probably damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1352975576 7q11.22 7 70766279C> T null P L 87 87 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs889725302 7q11.22 7 70766287C> G null H D 90 90 missense 0.896 possibly damaging 0.13 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs889725302 7q11.22 7 70766287C> A null H N 90 90 missense 0.896 possibly damaging 0.19 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs779465333 7q11.22 7 70766289C> G null H Q 90 90 missense 0.974 probably damaging 0.21 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs772360830 7q11.22 7 70766290G> T null A S 91 91 missense 0.315 benign 0.81 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs772360830 7q11.22 7 70766290G> A null A T 91 91 missense 0.811 possibly damaging 0.13 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,dbSNP,gnomAD rs367855382 cosmic curated [Cosmic]: large_intestine, [Cosmic]: liver cosmic_study:323,cosmic_study:375 7q11.22 7 70766305G> A null A T 96 96 missense 0.214 benign 0.27 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs772644555 7q11.22 7 70766309T> C null I T 97 97 missense 0.889 possibly damaging 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs769402743 7q11.22 7 70766308A> G null I V 97 97 missense 0.28 benign 0.16 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1215596272 7q11.22 7 70766312T> G null M R 98 98 missense 0.862 possibly damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,dbSNP rs1359937867 7q11.22 7 70766315C> T null P L 99 99 missense 1.0 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs552275264 7q11.22 7 70766318C> T null T M 100 100 missense 0.967 probably damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1563183632 7q11.22 7 70766326C> T null P S 103 103 missense 0.596 possibly damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1335201756 7q11.22 7 70766329C> T null P S 104 104 missense 0.069 benign 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1318040696 7q11.22 7 70766333T> C null M T 105 105 missense 0.047 benign 0.12 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1265351646 7q11.22 7 70768026T> G null F L 106 106 missense 0.986 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs761817786 7q11.22 7 70768039A> G null T A 111 111 missense 0.198 benign 0.18 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1051952947 7q11.22 7 70768051C> T null P S 115 115 missense 0.411 benign 0.17 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1477059207 7q11.22 7 70768055T> G null F C 116 116 missense 0.966 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1307879591 7q11.22 7 70768058A> G null Y C 117 117 missense 0.95 probably damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1307879591 7q11.22 7 70768058A> C null Y S 117 117 missense 0.566 possibly damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,dbSNP,gnomAD rs773674679 [ClinVar]: Autism spectrum disorder due to AUTS2 deficiency 7q11.22 7 70768061G> A null R Q 118 118 missense 0.437 benign 0.01 deleterious 0 Autism spectrum disorder due to AUTS2 deficiency (MRD26) MIM:615834 ClinVar:RCV001290369 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1170346168 7q11.22 7 70768060C> T null R W 118 118 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1471741812 7q11.22 7 70768066A> G null S G 120 120 missense 0.86 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1585662548 7q11.22 7 70771559C> T null S F 124 124 missense 0.953 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1255631422 7q11.22 7 70771562A> G null Y C 125 125 missense 0.976 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs894978620 cosmic curated [Cosmic]: endometrium cosmic_study:419 7q11.22 7 70771573G> A null V M 129 129 missense 0.455 possibly damaging 0.82 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs566822692 7q11.22 7 70771577C> T null S L 130 130 0.0002 missense 0.902 possibly damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,dbSNP,gnomAD rs756954861 [ClinVar]: Autism spectrum disorder due to AUTS2 deficiency 7q11.22 7 70771580G> C null G A 131 131 missense 0.793 possibly damaging 0.01 deleterious 0 Autism spectrum disorder due to AUTS2 deficiency (MRD26) MIM:615834 ClinVar:RCV001332092 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs756954861 7q11.22 7 70771580G> T null G V 131 131 missense 0.982 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1216496687 7q11.22 7 70771586C> T null P L 133 133 missense 0.953 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs778369039 7q11.22 7 70771585C> A null P T 133 133 missense 0.899 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs199756061 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Intellectual disability pubmed:22573403,cosmic_study:432 7q11.22 7 70771588C> G null P A 134 134 0.003195 missense 0.986 probably damaging 0.07 tolerated 1 Intellectual disability pubmed:21956720,ClinVar:RCV001252430 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs780193001 7q11.22 7 70771589C> A null P H 134 134 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs199756061 7q11.22 7 70771588C> T null P S 134 134 0.003195 missense 0.99 probably damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs199756061 7q11.22 7 70771588C> A null P T 134 134 0.003195 missense 0.994 probably damaging 0.12 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141709049 7q11.22 7 70771591A> G null M V 135 135 0.0002 missense 0.025 benign 0.63 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs768440944 7q11.22 7 70771601C> G null P R 138 138 missense 0.984 probably damaging 0.05 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs781065188 7q11.22 7 70771604C> T null T I 139 139 missense 0.901 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1183738885 cosmic curated [Cosmic]: stomach pubmed:22037554,cosmic_study:479 7q11.22 7 70771606G> A null G S 140 140 missense 0.986 probably damaging 0.02 deleterious 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs747841534 7q11.22 7 70771609C> T null P S 141 141 missense 0.672 possibly damaging 0.08 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,dbSNP,gnomAD rs773419852 7q11.22 7 70771640C> T null P L 151 151 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1474398792 7q11.22 7 70774029C> T null T I 153 153 missense 0.498 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs774435329 7q11.22 7 70774035A> T null N I 155 155 missense 0.942 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs774435329 7q11.22 7 70774035A> G null N S 155 155 missense 0.1 benign 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1376247808 7q11.22 7 70774038C> T null P L 156 156 missense 0.948 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1200239404 7q11.22 7 70774041T> C null I T 157 157 missense 0.675 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs772634984 7q11.22 7 70774045T> A null D E 158 158 missense 0.251 benign 0.4 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs756334229 7q11.22 7 70774043G> A null D N 158 158 missense 0.69 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs764526248 7q11.22 7 70774047T> C null V A 159 159 missense 0.342 benign 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs764526248 7q11.22 7 70774047T> G null V G 159 159 missense 0.015 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs761155089 7q11.22 7 70774046G> A null V I 159 159 missense 0.269 benign 0.21 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1203289728 7q11.22 7 70774049G> A null A T 160 160 missense 0.095 benign 0.41 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs577323013 7q11.22 7 70774055C> G null R G 162 162 missense 0.996 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs766073543 7q11.22 7 70774056G> A null R Q 162 162 missense 0.994 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs577323013 7q11.22 7 70774055C> T null R W 162 162 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs943716124 7q11.22 7 70774074A> T null H L 168 168 missense 0.924 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs943716124 7q11.22 7 70774074A> G null H R 168 168 missense 0.924 probably damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs754442697 7q11.22 7 70774081A> T null L F 170 170 missense 0.051 benign 0.14 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs754442697 7q11.22 7 70774081A> C null L F 170 170 missense 0.051 benign 0.14 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs146659460 cosmic curated [Cosmic]: endometrium cosmic_study:419 7q11.22 7 70774095C> T null P L 175 175 missense 0.952 probably damaging 0.01 deleterious 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC rs753063891 7q11.22 7 70775364_70775365insCTGGTAG G null P W 180 180 stop gained 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs763960642 7q11.22 7 70775376C> G null P R 183 183 missense 0.429 benign 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1237668919 7q11.22 7 70775379T> C null M T 184 184 missense 0.003 benign 0.66 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1287819222 7q11.22 7 70775378A> G null M V 184 184 missense 0.001 benign 0.63 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1224197797 7q11.22 7 70777110G> A null G E 189 189 missense 1.0 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs760109923 7q11.22 7 70777126G> C null M I 194 194 missense 0.63 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1206101901 7q11.22 7 70777125T> C null M T 194 194 missense 0.85 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs750187638 7q11.22 7 70777139G> A null A T 199 199 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs886041609 7q11.22 7 70777144G> A null W * 200 200 stop gained 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs758566675 7q11.22 7 70777146A> G null Q R 201 201 missense 0.963 probably damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1160707717 7q11.22 7 70777149T> C null I T 202 202 missense 0.175 benign 0.05 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1423471265 7q11.22 7 70777166A> C null K Q 208 208 missense 0.98 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs959384891 7q11.22 7 70777169G> A null V I 209 209 missense 0.259 benign 0.69 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1200674851 7q11.22 7 70781620G> C null Q H 212 212 missense 0.995 probably damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1490328774 7q11.22 7 70781618C> A null Q K 212 212 missense 0.964 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1271470982 7q11.22 7 70781623G> A null M I 213 213 missense 0.406 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP rs139009492 7q11.22 7 70781622T> G null M R 213 213 missense 0.852 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1403105456 7q11.22 7 70781632C> G null D E 216 216 missense 0.013 benign 0.17 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1481237630 7q11.22 7 70781630G> A null D N 216 216 missense 0.379 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs867898159 7q11.22 7 70781633C> T null P S 217 217 missense 0.9 possibly damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1190622954 7q11.22 7 70781646A> G null D G 221 221 missense 0.994 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,gnomAD rs530622734 7q11.22 7 70781657A> C null K Q 225 225 0.0002 missense 0.985 probably damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs779728253 7q11.22 7 70781660C> G null P A 226 226 missense 0.923 probably damaging 0.28 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs779728253 7q11.22 7 70781660C> A null P T 226 226 missense 0.948 probably damaging 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1192721397 7q11.22 7 70781667T> C null F S 228 228 missense 0.976 probably damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs761324549 7q11.22 7 70781675C> T null R C 231 231 missense 0.555 possibly damaging 0.05 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,dbSNP,gnomAD rs769690050 [ClinVar]: Intellectual disability 7q11.22 7 70781676G> A null R H 231 231 missense 0.985 probably damaging 0.03 deleterious 0 Intellectual disability pubmed:21956720,ClinVar:RCV001252431 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs769690050 7q11.22 7 70781676G> T null R L 231 231 missense 0.97 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs144926407 7q11.22 7 70781678C> G null P A 232 232 missense 0.942 probably damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs144926407 7q11.22 7 70781678C> T null P S 232 232 missense 0.675 possibly damaging 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1563195498 7q11.22 7 70781688C> T null P L 235 235 missense 0.981 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1563195513 7q11.22 7 70781697T> C null F S 238 238 missense 0.984 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC rs570653373 7q11.22 7 70781706T> C null I T 241 241 0.000399 missense 0.93 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs767789525 7q11.22 7 70781708C> T null H Y 242 242 missense 0.964 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs752826428 7q11.22 7 70781713C> G null H Q 243 243 missense 0.331 benign 0.11 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1585682518 7q11.22 7 70781715C> T null P L 244 244 missense 0.981 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1364341660 7q11.22 7 70781714C> T null P S 244 244 missense 0.973 probably damaging 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1260621089 7q11.22 7 70781719T> G null H Q 245 245 missense 0.181 benign 0.73 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1428746227 7q11.22 7 70781720G> A null D N 246 246 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs764564016 cosmic curated [Cosmic]: lung cosmic_study:417 7q11.22 7 70781726G> T null A S 248 248 missense 0.781 possibly damaging 0.05 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs764564016 7q11.22 7 70781726G> A null A T 248 248 missense 0.979 probably damaging 0.11 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs757599242 7q11.22 7 70781730G> A null R Q 249 249 missense 0.982 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs748925591 7q11.22 7 70781729C> T null R W 249 249 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1367313636 7q11.22 7 70781742T> C null L S 253 253 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs779276772 7q11.22 7 70781741T> G null L V 253 253 missense 0.972 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs746177538 7q11.22 7 70781750G> A null A T 256 256 missense 0.058 benign 0.4 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs747709136 7q11.22 7 70781753G> A null A T 257 257 missense 0.238 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1260878671 7q11.22 7 70784942G> A null G D 258 258 missense 0.969 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs747807553 7q11.22 7 70784944G> A null A T 259 259 missense 0.341 benign 0.08 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1203826984 7q11.22 7 70784945C> T null A V 259 259 missense 0.112 benign 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1238687698 7q11.22 7 70784947G> A null A T 260 260 missense 0.058 benign 0.86 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1407789656 7q11.22 7 70784952C> G null H Q 261 261 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs755682279 7q11.22 7 70784951A> G null H R 261 261 missense 0.995 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs748688052 7q11.22 7 70784954C> A null P Q 262 262 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs777365587 7q11.22 7 70784953C> T null P S 262 262 missense 0.986 probably damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1173907576 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 7q11.22 7 70784956A> G null T A 263 263 missense 0.012 benign 1.0 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1178380188 7q11.22 7 70784963C> T null T I 265 265 missense 0.283 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs745713755 7q11.22 7 70784962A> T null T S 265 265 missense 0.041 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1352802517 7q11.22 7 70784969T> C null F S 267 267 missense 0.43 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs771967688 7q11.22 7 70784975C> T null P L 269 269 missense 0.798 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1376092925 7q11.22 7 70784978C> T null P L 270 270 missense 0.19 benign 0.38 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1403494361 7q11.22 7 70784983C> G null H D 272 272 missense 0.854 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs760983452 7q11.22 7 70784992A> C null N H 275 275 missense 0.985 probably damaging 0.08 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs976637271 7q11.22 7 70784993A> G null N S 275 275 missense 0.331 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs976637271 7q11.22 7 70784993A> C null N T 275 275 missense 0.85 possibly damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1480946986 7q11.22 7 70784998C> T null L F 277 277 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs761880351 7q11.22 7 70785005C> T null P L 279 279 missense 0.264 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,dbSNP,gnomAD rs199704244 7q11.22 7 70785008C> T null A V 280 280 missense 0.455 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a dbSNP,gnomAD rs1483994190 [ClinVar]: Autism spectrum disorder due to AUTS2 deficiency 7q11.22 7 70785010G> A null A T 281 281 missense 0.19 benign 0.33 tolerated 0 Autism spectrum disorder due to AUTS2 deficiency (MRD26) MIM:615834 ClinVar:RCV001262517 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs149192549 7q11.22 7 70785964A> G null N S 287 287 missense 0.058 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs774705600 7q11.22 7 70785967G> C null R P 288 288 missense 0.974 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs774705600 7q11.22 7 70785967G> A null R Q 288 288 missense 0.928 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs759994021 7q11.22 7 70785970C> T null P L 289 289 missense 0.904 possibly damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs775953543 7q11.22 7 70785972T> C null S P 290 290 missense 0.003 benign 0.26 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1244512393 7q11.22 7 70785975A> G null T A 291 291 missense 0.241 benign 0.11 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372998593 7q11.22 7 70785981A> C null T P 293 293 0.0002 missense 0.583 possibly damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs905999697 7q11.22 7 70785990G> C null A P 296 296 missense 0.83 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1410280290 7q11.22 7 70785993G> A null A T 297 297 missense 0.122 benign 0.44 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs201229021 7q11.22 7 70786006A> G null N S 301 301 0.0002 missense 0.025 benign 0.6 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,dbSNP,gnomAD rs770211572 7q11.22 7 70786014G> A null G R 304 304 missense 0.942 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs766391532 7q11.22 7 70786018G> C null G A 305 305 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs766391532 7q11.22 7 70786018G> A null G E 305 305 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs747879933 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:376,cosmic_study:452 7q11.22 7 70786035G> A null V I 311 311 missense 0.506 possibly damaging 0.08 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1028656252 7q11.22 7 70787212C> G null P R 313 313 missense 0.846 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1369948699 7q11.22 7 70787216C> G null N K 314 314 missense 0.899 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1165282876 7q11.22 7 70787215A> G null N S 314 314 missense 0.337 benign 0.33 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs745899098 7q11.22 7 70787217T> C null S P 315 315 missense 0.931 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,gnomAD rs537105723 7q11.22 7 70787222G> A null M I 316 316 0.0002 missense 0.003 benign 0.87 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1226690190 7q11.22 7 70787221T> C null M T 316 316 missense 0.018 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1158235085 7q11.22 7 70787220A> G null M V 316 316 missense 0.0 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1437453235 7q11.22 7 70787223T> G null F V 317 317 missense 0.596 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs747429714 7q11.22 7 70787226G> A null G S 318 318 missense 0.369 benign 0.05 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1397089237 7q11.22 7 70787233A> G null K R 320 320 missense 0.939 probably damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1361039805 7q11.22 7 70787236A> G null D G 321 321 missense 0.857 possibly damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,gnomAD rs147106727 7q11.22 7 70787235G> A null D N 321 321 missense 0.857 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs367838374 7q11.22 7 70787239G> A null G D 322 322 missense 0.246 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs777099881 7q11.22 7 70787242C> G null P R 323 323 missense 0.933 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1267112202 7q11.22 7 70787244A> G null S G 324 324 missense 0.065 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs759084342 7q11.22 7 70787248T> C null V A 325 325 missense 0.022 benign 0.33 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs773739644 7q11.22 7 70787247G> A null V M 325 325 missense 0.077 benign 0.19 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs760502563 7q11.22 7 70787264C> G null N K 330 330 missense 0.255 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs760502563 7q11.22 7 70787264C> A null N K 330 330 missense 0.255 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs752606916 7q11.22 7 70787263A> C null N T 330 330 missense 0.077 benign 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1258122802 7q11.22 7 70787269A> C null H P 332 332 missense 0.028 benign 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs763907536 7q11.22 7 70787270C> G null H Q 332 332 missense 0.146 benign 0.14 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1258122802 7q11.22 7 70787269A> G null H R 332 332 missense 0.58 possibly damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1479195481 7q11.22 7 70787271G> C null E Q 333 333 missense 0.979 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs201841605 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:23856246,cosmic_study:504 7q11.22 7 70787275C> T null P L 334 334 missense 0.98 probably damaging 0.0 deleterious 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs750532676 7q11.22 7 70787284G> A null R Q 337 337 missense 0.996 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs779121870 7q11.22 7 70787283C> T null R W 337 337 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1585694427 7q11.22 7 70787290A> C null H P 339 339 missense 0.989 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1466570042 7q11.22 7 70787291C> G null H Q 339 339 missense 0.962 probably damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs758533465 7q11.22 7 70787293G> A null R Q 340 340 missense 0.689 possibly damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs961419320 7q11.22 7 70787295A> G null T A 341 341 missense 0.011 benign 0.29 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs780749241 7q11.22 7 70787296C> T null T M 341 341 missense 0.839 possibly damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs961419320 7q11.22 7 70787295A> C null T P 341 341 missense 0.636 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs868207585 7q11.22 7 70787305C> T null S L 344 344 missense 0.788 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs781425098 7q11.22 7 70787304T> C null S P 344 344 missense 0.943 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1311127815 7q11.22 7 70787311C> T null P L 346 346 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs770558391 7q11.22 7 70787310C> T null P S 346 346 missense 0.998 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1585694555 7q11.22 7 70787313A> C null T P 347 347 missense 0.996 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs759015569 7q11.22 7 70787317C> T null P L 348 348 missense 0.999 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1252233387 7q11.22 7 70787322C> T null P S 350 350 missense 0.998 probably damaging 0.16 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs867861925 7q11.22 7 70787325T> C null W R 351 351 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1183556876 7q11.22 7 70787338G> A null G E 355 355 missense 0.982 probably damaging 0.28 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs942210356 7q11.22 7 70787340G> A null E K 356 356 missense 0.546 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs990972744 7q11.22 7 70787341A> T null E V 356 356 missense 0.57 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs372882374 7q11.22 7 70787349C> T null R C 359 359 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs150219264 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 7q11.22 7 70787350G> A null R H 359 359 missense 0.996 probably damaging 0.02 deleterious 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs150219264 7q11.22 7 70787350G> T null R L 359 359 missense 0.994 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1433843969 7q11.22 7 70787352A> T null S C 360 360 missense 0.987 probably damaging 0.08 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1353332565 7q11.22 7 70787355G> A null A T 361 361 missense 0.015 benign 0.11 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs761661914 7q11.22 7 70787356C> T null A V 361 361 missense 0.266 benign 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs750630131 7q11.22 7 70787361G> A null A T 363 363 missense 0.748 possibly damaging 0.27 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs780307747 7q11.22 7 70787365C> T null A V 364 364 missense 0.061 benign 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs751635272 7q11.22 7 70787368C> A null A D 365 365 missense 0.669 possibly damaging 0.16 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs751635272 7q11.22 7 70787368C> G null A G 365 365 missense 0.492 possibly damaging 0.16 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs755547003 7q11.22 7 70787371A> G null H R 366 366 missense 0.365 benign 0.11 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1191155682 7q11.22 7 70787377G> A null R K 368 368 missense 0.647 possibly damaging 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs748520514 7q11.22 7 70787381T> G null D E 369 369 missense 0.042 benign 0.86 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1554487952 7q11.22 7 70787397C> T null R * 375 375 stop gained 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs778469209 7q11.22 7 70787398G> A null R Q 375 375 missense 0.071 benign 0.05 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs200188572 7q11.22 7 70787423C> G null D E 383 383 missense 0.875 possibly damaging 0.84 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1219887883 7q11.22 7 70787421G> A null D N 383 383 missense 0.91 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1244868633 7q11.22 7 70787427G> A null E K 385 385 missense 0.879 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC rs771663725 7q11.22 7 70787431G> A null R K 386 386 missense 0.979 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs757602384 7q11.22 7 70789749G> A null E K 387 387 missense 0.066 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs904867931 7q11.22 7 70789753G> A null S N 388 388 missense 0.034 benign 0.49 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs751246676 7q11.22 7 70789755G> A null V I 389 389 missense 0.03 benign 0.19 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,gnomAD rs560607073 7q11.22 7 70789758G> A null E K 390 390 0.0002 missense 0.885 possibly damaging 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs747549575 7q11.22 7 70789764A> G null R G 392 392 missense 0.99 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1009447114 7q11.22 7 70789766A> T null R S 392 392 missense 0.99 probably damaging 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs769837415 7q11.22 7 70789768A> C null H P 393 393 missense 0.996 probably damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs201055436 7q11.22 7 70789769C> G null H Q 393 393 0.0002 missense 0.994 probably damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs769837415 7q11.22 7 70789768A> G null H R 393 393 missense 0.99 probably damaging 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs954683613 7q11.22 7 70789774G> T null S I 395 395 missense 0.952 probably damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1270059647 7q11.22 7 70789775C> A null S R 395 395 missense 0.899 possibly damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1487901851 7q11.22 7 70789776C> A null H N 396 396 missense 0.986 probably damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1585699683 7q11.22 7 70789777A> C null H P 396 396 missense 0.996 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1187487100 7q11.22 7 70789780C> T null P L 397 397 missense 0.001 benign 0.18 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1460005573 7q11.22 7 70789779C> T null P S 397 397 missense 0.05 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs774246179 7q11.22 7 70789788G> A null A T 400 400 missense 0.647 possibly damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs371248372 7q11.22 7 70789795T> C null V A 402 402 missense 0.029 benign 0.81 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs760663281 7q11.22 7 70789800C> G null P A 404 404 missense 0.216 benign 0.17 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1017455957 7q11.22 7 70789801C> T null P L 404 404 missense 0.481 possibly damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1017455957 7q11.22 7 70789801C> A null P Q 404 404 missense 0.107 benign 0.25 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,gnomAD rs531794766 7q11.22 7 70789813T> C null L P 408 408 0.0002 missense 0.974 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,gnomAD rs200504524 7q11.22 7 70789815G> A null G R 409 409 0.0002 missense 0.982 probably damaging 0.05 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1286213604 7q11.22 7 70789818C> T null H Y 410 410 missense 0.889 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1350143010 7q11.22 7 70789822C> A null T N 411 411 missense 0.003 benign 0.6 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs750997066 7q11.22 7 70789824C> T null R C 412 412 missense 0.997 probably damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs973467545 7q11.22 7 70789825G> A null R H 412 412 missense 0.996 probably damaging 0.22 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1290391608 7q11.22 7 70789840A> G null Q R 417 417 missense 0.014 benign 0.42 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs780708729 7q11.22 7 70789846G> C null R P 419 419 missense 0.998 probably damaging 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs754666556 7q11.22 7 70789845C> T null R W 419 419 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1202921547 7q11.22 7 70789849C> G null A G 420 420 missense 0.0 benign 0.57 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1444618532 7q11.22 7 70789848G> T null A S 420 420 missense 0.009 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,dbSNP,gnomAD rs201559855 7q11.22 7 70789852A> T null H L 421 421 missense 0.719 possibly damaging 0.12 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs201559855 7q11.22 7 70789852A> G null H R 421 421 missense 0.57 possibly damaging 0.22 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1276734994 7q11.22 7 70789855T> C null L P 422 422 missense 0.988 probably damaging 0.3 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs755558019 7q11.22 7 70789858A> C null N T 423 423 missense 0.083 benign 0.56 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,gnomAD rs562632912 7q11.22 7 70789861C> T null T I 424 424 0.0002 missense 0.137 benign 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs770941644 7q11.22 7 70789867C> A null A D 426 426 missense 0.32 benign 0.62 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs770941644 7q11.22 7 70789867C> G null A G 426 426 missense 0.137 benign 0.44 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs199657836 7q11.22 7 70789869C> G null R G 427 427 0.0002 missense 0.03 benign 0.47 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs745581942 7q11.22 7 70789870G> C null R P 427 427 missense 0.089 benign 0.13 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs199657836 7q11.22 7 70789869C> T null R W 427 427 0.0002 missense 0.96 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs146682239 7q11.22 7 70789880C> G null D E 430 430 0.003195 missense 0.013 benign 0.86 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1369741838 7q11.22 7 70789878G> A null D N 430 430 missense 0.52 possibly damaging 0.1 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,dbSNP,gnomAD rs768689013 7q11.22 7 70789888A> G null K R 433 433 missense 0.991 probably damaging 0.4 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1232698720 7q11.22 7 70789890G> C null E Q 434 434 missense 0.542 possibly damaging 0.05 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1585700124 7q11.22 7 70789894G> A null R K 435 435 missense 0.003 benign 0.52 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs765669602 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 7q11.22 7 70789897A> G null E G 436 436 missense 0.672 possibly damaging 0.05 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1163695433 7q11.22 7 70789900G> C null R T 437 437 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs773697450 7q11.22 7 70789902G> T null D Y 438 438 missense 0.598 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1585700186 7q11.22 7 70789906A> C null H P 439 439 missense 0.001 benign 0.15 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1585700201 7q11.22 7 70789908T> G null S A 440 440 missense 0.018 benign 0.56 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs534033649 7q11.22 7 70789909C> T null S L 440 440 0.0002 missense 0.356 benign 0.24 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs534033649 [ClinVar]: Autism spectrum disorder due to AUTS2 deficiency 7q11.22 7 70789909C> G null S W 440 440 0.0002 missense 0.965 probably damaging 0.01 deleterious 0 Autism spectrum disorder due to AUTS2 deficiency (MRD26) MIM:615834 ClinVar:RCV001250575 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs976081207 cosmic curated [Cosmic]: lung cosmic_study:417 7q11.22 7 70789917C> T null R C 443 443 missense 0.878 possibly damaging 0.13 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138775036 7q11.22 7 70789918G> A null R H 443 443 0.0002 missense 0.784 possibly damaging 0.4 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138775036 7q11.22 7 70789918G> T null R L 443 443 0.0002 missense 0.464 possibly damaging 0.69 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs763718023 7q11.22 7 70789921A> G null K R 444 444 missense 0.041 benign 0.75 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1377728531 7q11.22 7 70789926C> G null L V 446 446 missense 0.086 benign 0.63 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141876742 7q11.22 7 70789932G> A null A T 448 448 0.0002 missense 0.0 benign 0.69 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1389406582 7q11.22 7 70789933C> T null A V 448 448 missense 0.001 benign 0.38 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs936382256 7q11.22 7 70789936A> C null D A 449 449 missense 0.033 benign 0.93 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369119031 7q11.22 7 70789937C> A null D E 449 449 missense 0.0 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369119031 7q11.22 7 70789937C> G null D E 449 449 missense 0.0 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs936382256 7q11.22 7 70789936A> G null D G 449 449 missense 0.046 benign 0.29 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs758102358 7q11.22 7 70789935G> A null D N 449 449 missense 0.052 benign 0.24 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1324407316 7q11.22 7 70789938G> A null E K 450 450 missense 0.095 benign 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs776699634 7q11.22 7 70789947G> T null A S 453 453 missense 0.194 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed rs748225756 7q11.22 7 70789948C> T null A V 453 453 missense 0.02 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs763418721 7q11.22 7 70789955G> C null E D 455 455 missense 0.005 benign 0.26 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs773570392 7q11.22 7 70789954A> G null E G 455 455 missense 0.318 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1284338668 7q11.22 7 70789960A> T null H L 457 457 missense 0.033 benign 0.16 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1303977599 7q11.22 7 70789959C> T null H Y 457 457 missense 0.003 benign 0.25 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1051457112 7q11.22 7 70789966C> T null P L 459 459 missense 0.003 benign 0.11 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs774731574 7q11.22 7 70789968G> A null E K 460 460 missense 0.014 benign 0.82 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1324595939 7q11.22 7 70789971A> G null K E 461 461 missense 0.169 benign 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs946416893 7q11.22 7 70789972A> G null K R 461 461 missense 0.006 benign 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1469423323 7q11.22 7 70789976C> A null D E 462 462 missense 0.069 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs576715792 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:23396385,cosmic_study:459 7q11.22 7 70789977G> A null G R 463 463 missense 0.129 benign 0.2 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs576715792 7q11.22 7 70789977G> T null G W 463 463 missense 0.638 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1260201399 7q11.22 7 70789980C> T null H Y 464 464 missense 0.49 possibly damaging 0.52 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1449975429 7q11.22 7 70789983G> A null G S 465 465 missense 0.01 benign 0.79 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs765267651 7q11.22 7 70789989G> A null E K 467 467 missense 0.204 benign 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1164066489 7q11.22 7 70789992G> C null G R 468 468 missense 0.326 benign 0.68 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1164066489 7q11.22 7 70789992G> T null G W 468 468 missense 0.667 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs758313517 7q11.22 7 70789995C> T null R C 469 469 missense 0.938 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs779729601 7q11.22 7 70789996G> A null R H 469 469 missense 0.938 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs758313517 7q11.22 7 70789995C> A null R S 469 469 missense 0.736 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1437864529 7q11.22 7 70789998G> A null A T 470 470 missense 0.005 benign 0.62 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs867675903 7q11.22 7 70789999_70790000delinsT T null A V 470 470 missense 0.011 benign 0.37 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs200872171 7q11.22 7 70790002C> G null A G 471 471 0.0002 missense 0.011 benign 0.21 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1340261250 7q11.22 7 70790001G> A null A T 471 471 missense 0.007 benign 0.15 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs200872171 7q11.22 7 70790002C> T null A V 471 471 0.0002 missense 0.007 benign 0.22 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs769836595 7q11.22 7 70790005G> A null G D 472 472 missense 0.022 benign 0.18 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1336473194 7q11.22 7 70790004G> A null G S 472 472 missense 0.0 benign 0.16 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs749784668 7q11.22 7 70790007G> A null E K 473 473 missense 0.749 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1188234927 7q11.22 7 70790013G> A null A T 475 475 missense 0.022 benign 0.6 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs771409160 7q11.22 7 70790016A> G null K E 476 476 missense 0.236 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs774580940 7q11.22 7 70790017A> G null K R 476 476 missense 0.394 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1471720771 7q11.22 7 70790023T> C null L P 478 478 missense 0.113 benign 0.27 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs761448632 7q11.22 7 70790029G> A null R Q 480 480 missense 0.588 possibly damaging 0.26 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs776400671 7q11.22 7 70790028C> T null R W 480 480 missense 0.913 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs764683823 7q11.22 7 70790035C> T null P L 482 482 missense 0.886 possibly damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1397035425 7q11.22 7 70790037T> C null S P 483 483 missense 0.994 probably damaging 0.05 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1024325794 7q11.22 7 70790041C> T null P L 484 484 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs766336613 7q11.22 7 70790040C> T null P S 484 484 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs781437098 7q11.22 7 70790046G> C null V L 486 486 missense 0.001 benign 0.48 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs781437098 7q11.22 7 70790046G> T null V L 486 486 missense 0.001 benign 0.48 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs781437098 7q11.22 7 70790046G> A null V M 486 486 missense 0.006 benign 0.16 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs756314192 7q11.22 7 70790050G> A null R Q 487 487 missense 0.883 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1254253472 7q11.22 7 70790053C> T null T I 488 488 missense 0.003 benign 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs749321104 7q11.22 7 70790056C> T null P L 489 489 missense 0.481 possibly damaging 0.14 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs749321104 7q11.22 7 70790056C> G null P R 489 489 missense 0.826 possibly damaging 0.16 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1200874136 7q11.22 7 70790055C> T null P S 489 489 missense 0.099 benign 0.48 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1424579758 7q11.22 7 70790062T> C null V A 491 491 missense 0.001 benign 0.76 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1181305637 7q11.22 7 70790061G> A null V M 491 491 missense 0.014 benign 0.11 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1412887933 7q11.22 7 70790065A> G null E G 492 492 missense 0.098 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs779458839 7q11.22 7 70790071C> A null A D 494 494 missense 0.034 benign 0.62 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1174024336 7q11.22 7 70790075G> T null R S 495 495 missense 0.99 probably damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1377601842 7q11.22 7 70790077C> T null P L 496 496 missense 0.73 possibly damaging 0.69 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs772532630 7q11.22 7 70790080A> G null N S 497 497 missense 0.453 possibly damaging 0.71 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs775955641 7q11.22 7 70790082A> G null S G 498 498 missense 0.014 benign 0.61 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1409537915 7q11.22 7 70790083G> T null S I 498 498 missense 0.905 possibly damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1585701093 7q11.22 7 70790084C> A null S R 498 498 missense 0.905 possibly damaging 0.3 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs983090024 7q11.22 7 70790085A> C null T P 499 499 missense 0.271 benign 0.24 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1222450896 7q11.22 7 70790089C> T null S L 500 500 missense 0.005 benign 0.36 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs867456597 7q11.22 7 70790092G> T null S I 501 501 missense 0.62 possibly damaging 0.16 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1225032496 7q11.22 7 70790095G> A null R Q 502 502 missense 0.869 possibly damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,TOPMed,gnomAD rs369710317 7q11.22 7 70790094C> T null R W 502 502 missense 0.104 benign 0.08 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs761578895 7q11.22 7 70790099G> C null E D 503 503 missense 0.011 benign 0.45 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs866376248 7q11.22 7 70790101C> T null A V 504 504 missense 0.003 benign 0.35 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs980386241 7q11.22 7 70790103G> A null E K 505 505 missense 0.332 benign 0.2 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs772666638 7q11.22 7 70790106C> G null P A 506 506 missense 0.009 benign 0.25 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs146263446 7q11.22 7 70790107C> T null P L 506 506 missense 0.182 benign 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs146263446 7q11.22 7 70790107C> A null P Q 506 506 missense 0.017 benign 0.15 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs565156541 7q11.22 7 70790110G> A null R H 507 507 missense 0.909 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs565156541 7q11.22 7 70790110G> T null R L 507 507 missense 0.618 possibly damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs565156541 7q11.22 7 70790110G> C null R P 507 507 missense 0.875 possibly damaging 0.05 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1421472648 7q11.22 7 70790116G> A null G D 509 509 missense 0.033 benign 0.6 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1481727765 7q11.22 7 70790115G> A null G S 509 509 missense 0.006 benign 0.76 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs946551219 7q11.22 7 70790119A> G null E G 510 510 missense 0.91 probably damaging 0.05 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs767324991 7q11.22 7 70790121C> G null P A 511 511 missense 0.0 benign 0.5 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1266794556 7q11.22 7 70790122C> T null P L 511 511 missense 0.0 benign 0.57 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs767324991 7q11.22 7 70790121C> T null P S 511 511 missense 0.031 benign 0.51 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs767324991 7q11.22 7 70790121C> A null P T 511 511 missense 0.022 benign 0.45 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs113194983 7q11.22 7 70790129C> G null Y * 513 513 0.004992 stop gained 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1169614213 7q11.22 7 70790134A> T null N I 515 515 missense 0.421 benign 0.45 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs778048697 7q11.22 7 70790137C> A null P H 516 516 missense 0.895 possibly damaging 0.41 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs778048697 7q11.22 7 70790137C> G null P R 516 516 missense 0.488 possibly damaging 0.4 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs753920054 7q11.22 7 70790142A> G null K E 518 518 missense 0.991 probably damaging 0.66 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs200059796 7q11.22 7 70790145A> G null S G 519 519 missense 0.0 benign 0.1 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs757333667 7q11.22 7 70790146G> T null S I 519 519 missense 0.241 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,TOPMed rs373094910 7q11.22 7 70790147C> G null S R 519 519 missense 0.067 benign 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs757333667 7q11.22 7 70790146G> C null S T 519 519 missense 0.033 benign 0.19 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1339956624 7q11.22 7 70790149C> T null S F 520 520 missense 0.323 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1305619236 7q11.22 7 70790148T> C null S P 520 520 missense 0.001 benign 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs747213045 7q11.22 7 70790151G> A null E K 521 521 missense 0.848 possibly damaging 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1270749380 7q11.22 7 70790155T> C null V A 522 522 missense 0.826 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs772657089 7q11.22 7 70790154G> A null V I 522 522 missense 0.203 benign 0.33 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs769391491 7q11.22 7 70790160G> T null V L 524 524 missense 0.987 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs769391491 7q11.22 7 70790160G> A null V M 524 524 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1284239237 7q11.22 7 70790163A> G null K E 525 525 missense 0.648 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs770510009 cosmic curated [Cosmic]: large_intestine cosmic_study:376 7q11.22 7 70790173G> A null R Q 528 528 missense 0.767 possibly damaging 0.04 deleterious 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs748790164 7q11.22 7 70790172C> T null R W 528 528 missense 0.96 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1056492547 7q11.22 7 70790175A> G null K E 529 529 missense 0.991 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,gnomAD rs377538146 7q11.22 7 70790181G> A null D N 531 531 missense 0.205 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,gnomAD rs377538146 7q11.22 7 70790181G> T null D Y 531 531 missense 0.714 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs759486465 7q11.22 7 70790185A> G null H R 532 532 missense 0.296 benign 0.17 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,TOPMed,gnomAD rs369801854 7q11.22 7 70790184C> T null H Y 532 532 missense 0.642 possibly damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs943242452 7q11.22 7 70790188A> C null D A 533 533 missense 0.647 possibly damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs150548501 7q11.22 7 70790194C> T null P L 535 535 missense 0.022 benign 0.29 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1317631817 7q11.22 7 70790193C> T null P S 535 535 missense 0.022 benign 0.49 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs879243300 7q11.22 7 70790200A> C null E A 537 537 missense 0.57 possibly damaging 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs775328536 7q11.22 7 70790199G> C null E Q 537 537 missense 0.736 possibly damaging 0.1 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,TOPMed rs554881140 7q11.22 7 70790203C> A null A D 538 538 0.0002 missense 0.677 possibly damaging 0.35 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs374548780 7q11.22 7 70790206C> T null P L 539 539 missense 0.052 benign 0.15 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs374548780 7q11.22 7 70790206C> G null P R 539 539 missense 0.299 benign 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1026130789 7q11.22 7 70790217C> G null R G 543 543 missense 0.736 possibly damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1266287610 7q11.22 7 70790218G> A null R Q 543 543 missense 0.755 possibly damaging 0.21 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs543645962 7q11.22 7 70790224C> T null S L 545 545 0.0002 missense 0.057 benign 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs543645962 7q11.22 7 70790224C> G null S W 545 545 0.0002 missense 0.747 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs750470894 7q11.22 7 70790230C> T null P L 547 547 missense 0.129 benign 0.33 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs139511589 cosmic curated [Cosmic]: large_intestine cosmic_study:376 7q11.22 7 70790233C> T null P L 548 548 missense 0.025 benign 0.25 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs755339567 7q11.22 7 70790238C> G null P A 550 550 missense 0.997 probably damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1211320003 7q11.22 7 70790242A> G null N S 551 551 missense 0.001 benign 0.87 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,gnomAD rs375599992 7q11.22 7 70790245C> T null S F 552 552 missense 0.864 possibly damaging 0.05 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1445624768 7q11.22 7 70790248C> T null S L 553 553 missense 0.204 benign 0.23 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs745375336 7q11.22 7 70790250T> A null S T 554 554 missense 0.033 benign 0.33 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs772052092 7q11.22 7 70790253A> G null S G 555 555 missense 0.0 benign 0.47 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1286632609 7q11.22 7 70790254G> T null S I 555 555 missense 0.083 benign 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs970084721 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:23856246,cosmic_study:504 7q11.22 7 70790256G> A null V M 556 556 missense 0.635 possibly damaging 0.1 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1287023573 7q11.22 7 70790261C> G null H Q 557 557 missense 0.77 possibly damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs144860288 7q11.22 7 70790259C> T null H Y 557 557 missense 0.67 possibly damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs763979959 7q11.22 7 70790263C> T null P L 558 558 missense 0.001 benign 0.19 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1220228952 7q11.22 7 70790262C> T null P S 558 558 missense 0.007 benign 0.34 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1238444260 7q11.22 7 70790268C> T null P S 560 560 missense 0.778 possibly damaging 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs776239694 7q11.22 7 70790275C> A null A D 562 562 missense 0.496 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs776239694 7q11.22 7 70790275C> T null A V 562 562 missense 0.018 benign 0.24 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs765487153 7q11.22 7 70790280A> G null M V 564 564 missense 0.006 benign 0.48 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1472015866 7q11.22 7 70790283C> G null P A 565 565 missense 0.069 benign 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,gnomAD rs544784004 7q11.22 7 70790284C> A null P H 565 565 0.0002 missense 0.964 probably damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,gnomAD rs544784004 7q11.22 7 70790284C> T null P L 565 565 0.0002 missense 0.826 possibly damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1472015866 7q11.22 7 70790283C> T null P S 565 565 missense 0.592 possibly damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs758531526 7q11.22 7 70790290C> T null T M 567 567 missense 0.669 possibly damaging 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1173628813 7q11.22 7 70790298G> T null V L 570 570 missense 0.031 benign 0.22 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs755394081 7q11.22 7 70790302C> T null T M 571 571 missense 0.36 benign 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs866178263 7q11.22 7 70790305G> A null G D 572 572 missense 0.943 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1443083015 7q11.22 7 70790307A> G null I V 573 573 missense 0.019 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs756973112 7q11.22 7 70790313C> T null P S 575 575 missense 0.098 benign 0.1 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs756973112 7q11.22 7 70790313C> A null P T 575 575 missense 0.131 benign 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1350504764 7q11.22 7 70790326T> G null I S 579 579 missense 0.836 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1238333817 7q11.22 7 70790328A> G null S G 580 580 missense 0.0 benign 0.29 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs771535030 7q11.22 7 70790332G> C null S T 581 581 missense 0.269 benign 0.67 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs988960317 7q11.22 7 70790335T> C null L P 582 582 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1482513220 7q11.22 7 70790334C> G null L V 582 582 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1181959724 7q11.22 7 70790339C> A null D E 583 583 missense 0.203 benign 0.3 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1272065983 7q11.22 7 70790343A> G null T A 585 585 missense 0.954 probably damaging 0.44 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs768420169 7q11.22 7 70790346C> T null R C 586 586 missense 0.997 probably damaging 0.05 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs776489400 cosmic curated [Cosmic]: large_intestine pubmed:22810696,cosmic_study:376 7q11.22 7 70790347G> A null R H 586 586 missense 0.996 probably damaging 0.01 deleterious 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1395540395 7q11.22 7 70790350T> C null M T 587 587 missense 0.546 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs761501069 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 7q11.22 7 70790354G> A null M I 588 588 missense 0.003 benign 0.19 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs988441031 7q11.22 7 70790353T> C null M T 588 588 missense 0.022 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1166458226 7q11.22 7 70790356C> T null T I 589 589 missense 0.719 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1166458226 7q11.22 7 70790356C> A null T N 589 589 missense 0.73 possibly damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs770191694 7q11.22 7 70790358C> G null P A 590 590 missense 0.997 probably damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs773537161 7q11.22 7 70790365T> C null M T 592 592 missense 0.546 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1392214902 7q11.22 7 70790364A> G null M V 592 592 missense 0.028 benign 0.1 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs866677721 7q11.22 7 70790368G> A null G D 593 593 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1585702359 7q11.22 7 70790377C> T null P L 596 596 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes rs527325057 7q11.22 7 70790379C> T null L F 597 597 0.0002 missense 0.308 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs766592601 7q11.22 7 70790383C> T null P L 598 598 missense 0.975 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs911670984 7q11.22 7 70790386G> A null G D 599 599 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1057522609 [ClinVar]: 15q11q13 microduplication syndrome 7q11.22 7 70790385G> A null G S 599 599 missense 0.997 probably damaging 0.02 deleterious 0 15q11q13 microduplication syndrome Maternal 15q duplication syndrome (maternal dup15q) is characterized by hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms. MIM:608636 pubmed:27308687,ClinVar:RCV000678333 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs760096118 7q11.22 7 70790388G> A null G R 600 600 missense 0.91 probably damaging 0.61 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1196040328 7q11.22 7 70790395G> A null R H 602 602 missense 0.996 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1039141349 7q11.22 7 70790398T> C null F S 603 603 missense 0.988 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1449385103 7q11.22 7 70790401C> T null P L 604 604 missense 0.406 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a dbSNP,gnomAD rs1057521756 7q11.22 7 70790400C> T null P S 604 604 missense 0.973 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC rs753160423 7q11.22 7 70790420G> C null W C 610 610 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs374055596 7q11.22 7 70790425C> G null P R 612 612 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1186548561 7q11.22 7 70790431G> T null R L 614 614 missense 0.769 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1455506276 7q11.22 7 70790430C> T null R W 614 614 missense 0.065 benign 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs778572856 7q11.22 7 70790433G> C null D H 615 615 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1169875410 7q11.22 7 70790448C> T null P S 620 620 missense 0.994 probably damaging 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs750104446 7q11.22 7 70790454C> T null R * 622 622 stop gained 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs750104446 7q11.22 7 70790454C> G null R G 622 622 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs779628884 7q11.22 7 70790455G> T null R L 622 622 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs768704037 7q11.22 7 70790467T> G null I S 626 626 missense 0.031 benign 0.08 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1585702636 7q11.22 7 70790473G> A null R Q 628 628 missense 0.99 probably damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1312973318 7q11.22 7 70790478G> A null D N 630 630 missense 0.942 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1453210016 7q11.22 7 70790482C> G null P R 631 631 missense 0.998 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1180084203 7q11.22 7 70790487G> A null G S 633 633 missense 0.169 benign 0.02 deleterious - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs939046841 7q11.22 7 70790498C> G null F L 636 636 missense 0.015 benign 0.67 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs930577652 7q11.22 7 70790500T> G null L R 637 637 missense 0.974 probably damaging 0.32 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1212563990 7q11.22 7 70790505A> G null R G 639 639 missense 0.009 benign 0.08 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1354453918 7q11.22 7 70790509A> T null N I 640 640 missense 0.067 benign 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,dbSNP,gnomAD rs763284520 7q11.22 7 70790514C> G null P A 642 642 missense 0.487 possibly damaging 0.19 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs555021087 7q11.22 7 70790515C> T null P L 642 642 0.0002 missense 0.606 possibly damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs555021087 7q11.22 7 70790515C> A null P Q 642 642 0.0002 missense 0.974 probably damaging 0.29 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1294170956 7q11.22 7 70790520C> T null H Y 644 644 missense 0.851 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs759524736 7q11.22 7 70790524G> A null R Q 645 645 missense 0.979 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1165877220 7q11.22 7 70790535C> G null P A 649 649 missense 0.997 probably damaging 0.19 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1165877220 7q11.22 7 70790535C> A null P T 649 649 missense 0.998 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs761126035 7q11.22 7 70790539G> A null R Q 650 650 missense 0.267 benign 0.29 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1396814042 7q11.22 7 70790538C> T null R W 650 650 missense 0.989 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1384336956 7q11.22 7 70790547G> A null E K 653 653 missense 0.885 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1427531483 7q11.22 7 70790551C> G null A G 654 654 missense 0.994 probably damaging 0.34 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1340203182 7q11.22 7 70790553G> A null D N 655 655 missense 0.104 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1340203182 7q11.22 7 70790553G> T null D Y 655 655 missense 0.946 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,dbSNP,gnomAD rs370456436 7q11.22 7 70790557G> A null R H 656 656 missense 0.703 possibly damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs751130860 7q11.22 7 70790560C> G null S C 657 657 missense 0.983 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs751130860 7q11.22 7 70790560C> T null S F 657 657 missense 0.952 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs754417763 7q11.22 7 70790562T> C null F L 658 658 missense 0.389 benign 0.15 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1226035348 7q11.22 7 70790566G> A null R K 659 659 missense 0.725 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs780713561 7q11.22 7 70790576G> T null E D 662 662 missense 0.987 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1260130552 7q11.22 7 70790574G> C null E Q 662 662 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs748120181 7q11.22 7 70790582C> G null H Q 664 664 missense 0.706 possibly damaging 0.05 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1213723520 7q11.22 7 70790581A> G null H R 664 664 missense 0.439 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1585703033 7q11.22 7 70790584A> G null D G 665 665 missense 0.591 possibly damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs866904889 7q11.22 7 70790590G> T null S I 667 667 missense 0.015 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs866904889 7q11.22 7 70790590G> A null S N 667 667 missense 0.003 benign 0.76 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs35604576 7q11.22 7 70790591C> G null S R 667 667 missense 0.308 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs756061374 7q11.22 7 70790593A> G null H R 668 668 missense 0.451 possibly damaging 0.14 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs868446843 7q11.22 7 70790599A> C null H P 670 670 missense 0.001 benign 0.05 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1364931137 7q11.22 7 70790602A> G null H R 671 671 missense 0.01 benign 0.29 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs865932880 7q11.22 7 70790605A> C null H P 672 672 missense 0.003 benign 0.06 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs749092558 7q11.22 7 70790604C> T null H Y 672 672 missense 0.526 possibly damaging 0.01 deleterious - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs867872684 7q11.22 7 70790608A> C null H P 673 673 missense 0.0 benign 0.2 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1585703202 7q11.22 7 70790611A> C null H P 674 674 missense 0.003 benign 0.18 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1184910197 7q11.22 7 70790612C> G null H Q 674 674 missense 0.526 possibly damaging 0.18 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1415274627 7q11.22 7 70790614A> C null H P 675 675 missense 0.0 benign 0.13 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1415705404 7q11.22 7 70790615C> A null H Q 675 675 missense 0.326 benign 0.02 deleterious - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1313184148 7q11.22 7 70790617C> T null P L 676 676 missense 0.104 benign 0.0 deleterious - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs772071144 7q11.22 7 70790620T> C null L P 677 677 missense 0.997 probably damaging 0.16 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs764517497 7q11.22 7 70790628G> T null D Y 680 680 missense 0.952 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,dbSNP,gnomAD rs762069191 7q11.22 7 70790632C> T null P L 681 681 missense 0.794 possibly damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375948367 7q11.22 7 70790631C> T null P S 681 681 missense 0.736 possibly damaging 0.13 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375948367 7q11.22 7 70790631C> A null P T 681 681 missense 0.794 possibly damaging 0.05 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs145671325 7q11.22 7 70790635G> T null R L 682 682 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs145671325 7q11.22 7 70790635G> A null R Q 682 682 missense 0.99 probably damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1259950854 7q11.22 7 70790638G> A null R Q 683 683 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs754611047 7q11.22 7 70790644A> G null H R 685 685 missense 0.296 benign 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs371317370 7q11.22 7 70790650G> C null R P 687 687 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs371317370 7q11.22 7 70790650G> A null R Q 687 687 missense 0.99 probably damaging 0.01 deleterious - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs752192412 7q11.22 7 70790649C> T null R W 687 687 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150926322 7q11.22 7 70790653G> C null G A 688 688 0.002995 missense 0.146 benign 1.0 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150926322 7q11.22 7 70790653G> A null G E 688 688 0.002995 missense 0.918 probably damaging 0.76 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs756968287 7q11.22 7 70790652G> A null G R 688 688 missense 0.961 probably damaging 0.7 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150926322 7q11.22 7 70790653G> T null G V 688 688 0.002995 missense 0.085 benign 0.54 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs747086851 cosmic curated [Cosmic]: large_intestine cosmic_study:376 7q11.22 7 70790655G> A null G S 689 689 missense 0.029 benign 0.78 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1020426087 7q11.22 7 70790658C> A null H N 690 690 missense 0.465 possibly damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1585703457 7q11.22 7 70790662T> C null L P 691 691 missense 0.984 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1297199327 7q11.22 7 70790664G> A null D N 692 692 missense 0.794 possibly damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1392559268 7q11.22 7 70790667G> A null E K 693 693 missense 0.749 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs769208197 7q11.22 7 70790670C> G null R G 694 694 missense 0.94 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs769208197 7q11.22 7 70790670C> T null R W 694 694 missense 0.989 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs374217111 7q11.22 7 70790676C> T null R C 696 696 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1234817815 7q11.22 7 70790677G> T null R L 696 696 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1563204510 7q11.22 7 70790683A> C null H P 698 698 missense 0.526 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs762343901 7q11.22 7 70790685A> G null M V 699 699 missense 0.0 benign 0.34 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs911635138 7q11.22 7 70790697G> A null D N 703 703 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,TOPMed rs539075491 7q11.22 7 70790700T> C null Y H 704 704 0.0002 missense 0.904 possibly damaging 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,TOPMed rs539075491 7q11.22 7 70790700T> A null Y N 704 704 0.0002 missense 0.791 possibly damaging 0.05 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1252038479 7q11.22 7 70790704A> G null E G 705 705 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1204105147 7q11.22 7 70790703G> A null E K 705 705 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs773568699 7q11.22 7 70790710C> T null T M 707 707 missense 0.235 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs773568699 7q11.22 7 70790710C> G null T R 707 707 missense 0.07 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1168188278 7q11.22 7 70790712C> G null R G 708 708 missense 0.02 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,gnomAD rs376868075 7q11.22 7 70790713G> T null R L 708 708 missense 0.02 benign 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,gnomAD rs376868075 cosmic curated [Cosmic]: large_intestine cosmic_study:376 7q11.22 7 70790713G> A null R Q 708 708 missense 0.781 possibly damaging 0.0 deleterious 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1214271334 7q11.22 7 70790715C> T null L F 709 709 missense 0.997 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1214271334 7q11.22 7 70790715C> G null L V 709 709 missense 0.99 probably damaging 0.05 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1428231776 7q11.22 7 70790719A> T null H L 710 710 missense 0.974 probably damaging 0.25 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1295985025 7q11.22 7 70790718C> T null H Y 710 710 missense 0.974 probably damaging 0.11 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs764164239 7q11.22 7 70790721T> G null S A 711 711 missense 0.003 benign 0.85 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs757165955 cosmic curated [Cosmic]: central_nervous_system pubmed:23917401,cosmic_study:329,cosmic_study:552 7q11.22 7 70790724G> A null V M 712 712 missense 0.104 benign 0.42 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs778581827 7q11.22 7 70790727C> T null H Y 713 713 missense 0.255 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1585703712 7q11.22 7 70790733G> A null A T 715 715 missense 0.561 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,gnomAD rs553980730 7q11.22 7 70790736T> G null S A 716 716 0.0002 missense 0.0 benign 0.99 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,gnomAD rs553980730 7q11.22 7 70790736T> A null S T 716 716 0.0002 missense 0.033 benign 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1309460944 cosmic curated [Cosmic]: large_intestine cosmic_study:375,cosmic_study:376 7q11.22 7 70790742G> A null D N 718 718 missense 0.996 probably damaging 0.0 deleterious 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1272659885 7q11.22 7 70790745G> A null G R 719 719 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1585703782 7q11.22 7 70790749A> C null H P 720 720 missense 0.996 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs768756485 7q11.22 7 70790751C> T null L F 721 721 missense 0.189 benign 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs781201246 7q11.22 7 70790752T> C null L P 721 721 missense 0.98 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1246656867 7q11.22 7 70790754C> T null P S 722 722 missense 0.187 benign 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1485784986 7q11.22 7 70790757C> A null H N 723 723 missense 0.647 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs748618574 7q11.22 7 70790758A> C null H P 723 723 missense 0.862 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1485784986 7q11.22 7 70790757C> T null H Y 723 723 missense 0.099 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1235764227 7q11.22 7 70790760C> T null P S 724 724 missense 0.421 benign 0.23 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,dbSNP,gnomAD rs565725329 7q11.22 7 70790764G> A null S N 725 725 0.000599 missense 0.046 benign 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1368161658 7q11.22 7 70790767T> C null L P 726 726 missense 0.999 probably damaging 0.42 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,dbSNP,gnomAD rs202093848 7q11.22 7 70790771C> G null I M 727 727 missense 0.007 benign 0.33 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1162300712 7q11.22 7 70790770T> G null I S 727 727 missense 0.121 benign 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs771904255 7q11.22 7 70790773C> A null T N 728 728 missense 0.382 benign 0.11 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1554489359 [ClinVar]: Inborn genetic diseases 7q11.22 7 70790776C> G null P R 729 729 missense 0.998 probably damaging 0.0 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25560141,pubmed:25626707,pubmed:25730230,ClinVar:RCV000622862 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1289198205 7q11.22 7 70790779G> C null G A 730 730 missense 0.632 possibly damaging 0.4 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs753328166 7q11.22 7 70790778G> C null G R 730 730 missense 0.982 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1289198205 7q11.22 7 70790779G> T null G V 730 730 missense 0.973 probably damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1231708346 7q11.22 7 70790784C> A null P T 732 732 missense 0.187 benign 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1585703961 7q11.22 7 70790787A> G null S G 733 733 missense 0.009 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs765214493 7q11.22 7 70790789C> G null S R 733 733 missense 0.226 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs750241021 7q11.22 7 70790792G> A null M I 734 734 missense 0.089 benign 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1335554646 7q11.22 7 70790790A> T null M L 734 734 missense 0.006 benign 0.26 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs780293205 7q11.22 7 70790794A> G null H R 735 735 missense 0.578 possibly damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs758166715 7q11.22 7 70790793C> T null H Y 735 735 missense 0.018 benign 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1217012084 7q11.22 7 70790797A> G null Y C 736 736 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs751803124 7q11.22 7 70790799C> A null P T 737 737 missense 0.591 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1482454954 7q11.22 7 70790802C> T null R C 738 738 missense 0.985 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1185348364 7q11.22 7 70790803G> T null R L 738 738 missense 0.315 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1185348364 7q11.22 7 70790803G> C null R P 738 738 missense 0.983 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs755137821 7q11.22 7 70790814A> G null T A 742 742 missense 0.337 benign 0.3 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1475279630 7q11.22 7 70790815C> T null T I 742 742 missense 0.827 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1195584864 7q11.22 7 70790817G> C null A P 743 743 missense 0.865 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1186794209 7q11.22 7 70790821G> T null G V 744 744 missense 0.154 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1258222166 7q11.22 7 70790824A> G null N S 745 745 missense 0.0 benign 0.17 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs567354186 7q11.22 7 70790831C> A null N K 747 747 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs567354186 7q11.22 7 70790831C> G null N K 747 747 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes rs202052364 7q11.22 7 70790830A> G null N S 747 747 0.0002 missense 0.987 probably damaging 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1159680916 7q11.22 7 70790833G> A null G E 748 748 missense 0.982 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,TOPMed rs140485978 7q11.22 7 70790832G> C null G R 748 748 missense 0.983 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1554489424 [ClinVar]: Inborn genetic diseases 7q11.22 7 70790836T> C null L P 749 749 missense 0.914 probably damaging 0.17 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25560141,pubmed:25626707,pubmed:25730230,ClinVar:RCV000624846 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs778326381 7q11.22 7 70790835C> G null L V 749 749 missense 0.155 benign 0.11 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1312572641 7q11.22 7 70790842A> G null N S 751 751 missense 0.382 benign 0.25 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs749658188 7q11.22 7 70790845A> G null K R 752 752 missense 0.712 possibly damaging 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a dbSNP,gnomAD rs1416757959 [ClinVar]: Autism spectrum disorder due to AUTS2 deficiency 7q11.22 7 70790848C> A null T N 753 753 missense 0.961 probably damaging 0.12 tolerated 0 Autism spectrum disorder due to AUTS2 deficiency (MRD26) MIM:615834 ClinVar:RCV001196651 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1039274139 7q11.22 7 70790851C> T null P L 754 754 missense 0.712 possibly damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1405917395 7q11.22 7 70790850C> T null P S 754 754 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,gnomAD rs200355149 7q11.22 7 70790854C> T null P L 755 755 0.0002 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs768354002 7q11.22 7 70790859G> A null A T 757 757 missense 0.203 benign 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1279218604 7q11.22 7 70790863C> G null A G 758 758 missense 0.773 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs368565092 7q11.22 7 70790862G> T null A S 758 758 missense 0.12 benign 0.14 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1279218604 7q11.22 7 70790863C> T null A V 758 758 missense 0.805 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs765136217 7q11.22 7 70790868A> G null S G 760 760 missense 0.961 probably damaging 0.15 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1336239612 7q11.22 7 70790881C> T null P L 764 764 missense 0.406 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1336239612 7q11.22 7 70790881C> G null P R 764 764 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs766175457 7q11.22 7 70790887T> A null I N 766 766 missense 0.935 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1186300311 7q11.22 7 70790889T> A null S T 767 767 missense 0.546 possibly damaging 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs755260791 7q11.22 7 70790893C> T null T M 768 768 missense 0.638 possibly damaging 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1205204962 7q11.22 7 70790902G> C null G A 771 771 missense 0.023 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1205204962 7q11.22 7 70790902G> A null G D 771 771 missense 0.677 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs752771406 cosmic curated [Cosmic]: oesophagus, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: lung pubmed:22980975,pubmed:23525077,pubmed:23619168,cosmic_study:431,cosmic_study:464,cosmic_study:561 7q11.22 7 70790904C> T null R C 772 772 missense 0.997 probably damaging 0.0 deleterious 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1443011212 7q11.22 7 70790905G> A null R H 772 772 missense 0.996 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1289630665 7q11.22 7 70790910G> T null V F 774 774 missense 0.132 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1342620208 7q11.22 7 70790917C> T null P L 776 776 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1342620208 7q11.22 7 70790917C> G null P R 776 776 missense 0.999 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,TOPMed,dbSNP,gnomAD rs201704456 cosmic curated [Cosmic]: skin, [ClinVar]: Autism spectrum disorder due to AUTS2 deficiency pubmed:21984974,cosmic_study:357 7q11.22 7 70790923G> A null R K 778 778 0.0002 missense 0.979 probably damaging 0.04 deleterious 1 Autism spectrum disorder due to AUTS2 deficiency (MRD26) MIM:615834 ClinVar:RCV001196401 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1012077245 cosmic curated [Cosmic]: endometrium cosmic_study:419 7q11.22 7 70790926C> T null T M 779 779 missense 0.998 probably damaging 0.0 deleterious 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1436789637 7q11.22 7 70790928A> G null T A 780 780 missense 0.848 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,dbSNP,gnomAD rs768478864 7q11.22 7 70790931C> A null P T 781 781 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs747651759 7q11.22 7 70790940G> T null A S 784 784 missense 0.455 possibly damaging 0.61 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs747651759 7q11.22 7 70790940G> A null A T 784 784 missense 0.03 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs769376506 7q11.22 7 70790945G> C null E D 785 785 missense 0.031 benign 0.7 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1475126112 7q11.22 7 70790952G> A null E K 788 788 missense 0.107 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs772540060 7q11.22 7 70790961C> G null P A 791 791 missense 0.066 benign 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1396021899 7q11.22 7 70790967C> T null H Y 793 793 missense 0.986 probably damaging 0.17 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs138087196 7q11.22 7 70790970A> G null T A 794 794 0.0002 missense 0.028 benign 0.24 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs149469010 7q11.22 7 70790971C> T null T M 794 794 missense 0.931 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1231154481 7q11.22 7 70790977A> G null K R 796 796 missense 0.712 possibly damaging 0.17 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148604002 7q11.22 7 70790992G> C null R P 801 801 0.000399 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148604002 7q11.22 7 70790992G> A null R Q 801 801 0.000399 missense 0.99 probably damaging 0.04 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1360144244 19p13.12 19 14072540C> A null A D 2 2 missense 0.0 unknown 0.51 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1308330477 19p13.12 19 14072539G> A null A T 2 2 missense 0.0 unknown 0.22 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1360144244 19p13.12 19 14072540C> T null A V 2 2 missense 0.0 unknown 0.16 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1273610835 19p13.12 19 14072543C> A null P H 3 3 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1217047430 19p13.12 19 14072545C> T null Q * 4 4 stop gained 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1211784784 19p13.12 19 14072552C> T null A V 6 6 missense 0.691 possibly damaging 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1271965995 19p13.12 19 14072555G> A null G E 7 7 missense 0.97 probably damaging 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs915182845 19p13.12 19 14072554G> A null G R 7 7 missense 0.98 probably damaging 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1447136106 19p13.12 19 14072558C> G null P R 8 8 missense 0.908 possibly damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1348828673 19p13.12 19 14072561G> A null G D 9 9 missense 0.97 probably damaging 0.11 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1239945515 19p13.12 19 14072576C> T null S F 14 14 missense 0.692 possibly damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1322507560 19p13.12 19 14072579C> T null S F 15 15 missense 0.692 possibly damaging 0.16 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,gnomAD rs540214875 19p13.12 19 14072581A> G null K E 16 16 missense 0.497 possibly damaging 0.08 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1476458583 19p13.12 19 14072590C> T null R C 19 19 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1476458583 19p13.12 19 14072590C> G null R G 19 19 missense 0.0 benign 0.11 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1163471509 19p13.12 19 14072593G> A null A T 20 20 missense 0.001 benign 0.04 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1405934213 19p13.12 19 14072953G> A null G R 24 24 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1234405170 19p13.12 19 14072954G> T null G V 24 24 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs778918837 19p13.12 19 14072960G> A null G E 26 26 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1412634475 19p13.12 19 14072965C> T null P S 28 28 missense 0.81 possibly damaging 0.23 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1336236771 19p13.12 19 14072968A> G null R G 29 29 missense 0.3 benign 0.64 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,TOPMed,gnomAD rs549667559 19p13.12 19 14072977C> G null Q E 32 32 0.0002 missense 0.095 benign 0.07 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1234561985 19p13.12 19 14072985C> A null S R 34 34 missense 0.514 possibly damaging 0.05 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs935284075 19p13.12 19 14072986C> T null P S 35 35 missense 0.81 possibly damaging 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1302598585 19p13.12 19 14072990G> A null R K 36 36 missense 0.146 benign 0.73 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1052352748 19p13.12 19 14072999C> T null A V 39 39 missense 0.691 possibly damaging 0.07 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1255943352 19p13.12 19 14073016G> T null V F 45 45 missense 0.617 possibly damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1377488498 19p13.12 19 14073019C> T null P S 46 46 missense 0.81 possibly damaging 0.08 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1438871359 19p13.12 19 14073023A> G null K R 47 47 missense 0.497 possibly damaging 0.83 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1438871359 19p13.12 19 14073023A> C null K T 47 47 missense 0.617 possibly damaging 0.08 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1599316805 19p13.12 19 14073031G> A null A T 50 50 missense 0.691 possibly damaging 0.07 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1184666191 19p13.12 19 14073034A> G null K E 51 51 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs893692580 19p13.12 19 14073040G> T null V L 53 53 missense 0.205 benign 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1439237510 19p13.12 19 14073043G> A null E K 54 54 missense 0.497 possibly damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1174347222 19p13.12 19 14073052G> A null E K 57 57 missense 0.497 possibly damaging 0.2 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1383852895 19p13.12 19 14073057A> C null Q H 58 58 missense 0.398 benign 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1397064637 19p13.12 19 14073056A> G null Q R 58 58 missense 0.151 benign 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1433127120 19p13.12 19 14073058G> T null E * 59 59 stop gained 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1599316824 19p13.12 19 14073060G> C null E D 59 59 missense 0.398 benign 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1171747562 19p13.12 19 14073059A> G null E G 59 59 missense 0.617 possibly damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1430206255 19p13.12 19 14073067G> A null V I 62 62 missense 0.205 benign 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1393047760 19p13.12 19 14073073G> A null E K 64 64 missense 0.0 unknown 0.14 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1047211995 19p13.12 19 14073083T> C null V A 67 67 missense 0.0 unknown 1.0 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1010930771 19p13.12 19 14073082G> A null V I 67 67 missense 0.0 unknown 0.09 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs571247061 19p13.12 19 14073086A> G null E G 68 68 0.000599 missense 0.617 possibly damaging 0.48 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1282031032 19p13.12 19 14073099G> C null E D 72 72 missense 0.0 benign 0.2 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1599316850 19p13.12 19 14073100A> G null S G 73 73 missense 0.302 benign 0.18 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1368289977 19p13.12 19 14073101G> T null S I 73 73 missense 0.617 possibly damaging 0.05 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1368289977 19p13.12 19 14073101G> A null S N 73 73 missense 0.393 benign 0.19 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1255748835 19p13.12 19 14073103C> T null P S 74 74 missense 0.81 possibly damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1198073096 19p13.12 19 14073106G> A null G R 75 75 missense 0.98 probably damaging 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1457728039 19p13.12 19 14073118G> A null A T 79 79 missense 0.691 possibly damaging 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1327522614 19p13.12 19 14073131A> G null E G 83 83 missense 0.617 possibly damaging 0.23 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1312532611 19p13.12 19 14073136C> T null P S 85 85 missense 0.81 possibly damaging 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,TOPMed,gnomAD rs781480820 19p13.12 19 14073139G> C null E Q 86 86 missense 0.617 possibly damaging 0.26 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1377582059 19p13.12 19 14073142C> A null P T 87 87 missense 0.81 possibly damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs995836664 19p13.12 19 14073145G> T null G C 88 88 missense 0.985 probably damaging 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1452785308 19p13.12 19 14073151G> A null D N 90 90 missense 0.737 possibly damaging 0.04 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1373427008 19p13.12 19 14073169G> A null E K 96 96 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1169721129 19p13.12 19 14073173C> A null A E 97 97 missense 0.773 possibly damaging 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1599316899 19p13.12 19 14073172G> A null A T 97 97 missense 0.691 possibly damaging 0.08 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs547015415 19p13.12 19 14073196C> T null Q * 105 105 0.000799 stop gained 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs116653656 19p13.12 19 14073199C> T null H Y 106 106 0.01498 missense 0.0 unknown 1.0 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1004756764 19p13.12 19 14073206C> T null P L 108 108 missense 0.856 possibly damaging 0.26 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,gnomAD rs749573950 19p13.12 19 14073215C> A null P H 111 111 missense 0.952 probably damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,gnomAD rs749573950 19p13.12 19 14073215C> T null P L 111 111 missense 0.856 possibly damaging 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,gnomAD rs749573950 19p13.12 19 14073215C> G null P R 111 111 missense 0.908 possibly damaging 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1219405610 19p13.12 19 14073217A> G null K E 112 112 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1599316942 19p13.12 19 14073220A> C null T P 113 113 missense 0.711 possibly damaging 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1197020487 19p13.12 19 14073224C> G null S C 114 114 missense 0.848 possibly damaging 0.17 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes rs536359855 19p13.12 19 14073223T> C null S P 114 114 0.0002 missense 0.514 possibly damaging 0.22 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1276732536 19p13.12 19 14073233G> T null R M 117 117 missense 0.711 possibly damaging 0.04 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs560239360 19p13.12 19 14073234G> C null R S 117 117 0.001198 missense 0.412 benign 0.54 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs560239360 19p13.12 19 14073234G> T null R S 117 117 0.001198 missense 0.412 benign 0.54 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,gnomAD rs762361002 19p13.12 19 14073235T> C null S P 118 118 missense 0.514 possibly damaging 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,gnomAD rs770423062 19p13.12 19 14073238G> C null G R 119 119 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs529384554 19p13.12 19 14073242C> T null S L 120 120 0.003594 missense 0.514 possibly damaging 0.26 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs529384554 19p13.12 19 14073242C> G null S W 120 120 0.003594 missense 0.883 possibly damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1023241325 19p13.12 19 14073244G> C null E Q 121 121 missense 0.617 possibly damaging 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1262620690 19p13.12 19 14073248C> A null A D 122 122 missense 0.826 possibly damaging 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1262620690 19p13.12 19 14073248C> T null A V 122 122 missense 0.691 possibly damaging 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1430542125 19p13.12 19 14073251C> T null P L 123 123 missense 0.856 possibly damaging 0.58 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1348844462 19p13.12 19 14073250C> T null P S 123 123 missense 0.81 possibly damaging 0.16 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1392044649 19p13.12 19 14073254A> T null H L 124 124 missense 0.412 benign 1.0 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs969131978 19p13.12 19 14073253C> A null H N 124 124 missense 0.223 benign 0.14 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1190712061 19p13.12 19 14073256C> G null L V 125 125 missense 0.578 possibly damaging 0.13 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1599316990 19p13.12 19 14073264T> G null F L 127 127 missense 0.302 benign 0.05 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1475482338 19p13.12 19 14073268C> T null P S 129 129 missense 0.81 possibly damaging 0.83 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1167093199 19p13.12 19 14073273C> A null C * 130 130 stop gained 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1456911449 19p13.12 19 14073277G> A null E K 132 132 missense 0.497 possibly damaging 0.1 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1162615656 19p13.12 19 14073283C> T null P S 134 134 missense 0.81 possibly damaging 0.09 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs981882078 19p13.12 19 14073293C> T null P L 137 137 missense 0.856 possibly damaging 0.13 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs981882078 19p13.12 19 14073293C> G null P R 137 137 missense 0.908 possibly damaging 0.04 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1214918326 19p13.12 19 14073298G> A null E K 139 139 missense 0.497 possibly damaging 0.03 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1340357201 19p13.12 19 14073304C> T null R W 141 141 missense 0.007 benign 0.03 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1295579044 19p13.12 19 14073323T> A null I N 147 147 missense 0.996 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1437934301 19p13.12 19 14073336C> G null I M 151 151 missense 0.98 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1599317044 19p13.12 19 14073335T> C null I T 151 151 missense 0.87 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1320454469 19p13.12 19 14073338G> A null R H 152 152 missense 0.981 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC rs762626515 19p13.12 19 14073340C> T null R C 153 153 missense 0.928 probably damaging 0.03 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs912819200 19p13.12 19 14073348C> A null C * 155 155 stop gained 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs912819200 19p13.12 19 14073348C> G null C W 155 155 missense 0.97 probably damaging 0.03 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs558846444 19p13.12 19 14073357G> T null E D 158 158 0.000399 missense 0.992 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1261421892 19p13.12 19 14073355G> A null E K 158 158 missense 0.994 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,gnomAD rs751530064 19p13.12 19 14073360G> C null E D 159 159 missense 0.083 benign 0.09 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1039750571 19p13.12 19 14073362G> A null S N 160 160 missense 0.327 benign 0.32 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs899833833 19p13.12 19 14073377G> A null R Q 165 165 missense 0.121 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1321634302 19p13.12 19 14073376C> T null R W 165 165 missense 0.972 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1438702968 19p13.12 19 14073385A> G null S G 168 168 missense 0.719 possibly damaging 0.09 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC rs757334792 19p13.12 19 14073386G> A null S N 168 168 missense 0.855 possibly damaging 0.04 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1159152107 19p13.12 19 14073389C> T null P L 169 169 missense 0.183 benign 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1451155091 19p13.12 19 14073392G> A null G D 170 170 missense 0.6 possibly damaging 0.2 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1599317100 19p13.12 19 14073394C> T null R C 171 171 missense 0.872 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs934105122 19p13.12 19 14073397G> C null A P 172 172 missense 0.905 possibly damaging 0.03 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1157741973 19p13.12 19 14073403C> T null R C 174 174 missense 0.339 benign 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1375682598 19p13.12 19 14073413T> C null V A 177 177 missense 0.156 benign 0.02 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs8104055 19p13.12 19 14073415G> C null E Q 178 178 0.0631 missense 0.021 benign 0.03 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs931743754 19p13.12 19 14073421C> A null R S 180 180 missense 0.555 possibly damaging 0.03 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,gnomAD rs756242699 19p13.12 19 14073424G> C null V L 181 181 missense 0.007 benign 0.12 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1043399460 19p13.12 19 14073431C> T null P L 183 183 missense 0.564 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1043399460 19p13.12 19 14073431C> G null P R 183 183 missense 0.706 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs903493573 19p13.12 19 14073434T> C null V A 184 184 missense 0.156 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs999210415 19p13.12 19 14073436C> T null L F 185 185 missense 0.976 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1052747128 19p13.12 19 14073440A> G null N S 186 186 missense 0.0 benign 1.0 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs896435341 19p13.12 19 14073446C> T null P L 188 188 missense 0.856 possibly damaging 0.04 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs896435341 19p13.12 19 14073446C> G null P R 188 188 missense 0.912 probably damaging 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs777109852 19p13.12 19 14073448G> C null G R 189 189 missense 0.062 benign 0.07 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1236599250 19p13.12 19 14073458C> T null P L 192 192 missense 0.172 benign 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1023489515 19p13.12 19 14073470G> A null R H 196 196 missense 0.987 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1416724403 19p13.12 19 14073469C> A null R S 196 196 missense 0.949 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs7258963 19p13.12 19 14074414T> C null V A 198 198 0.496 missense 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs969429163 19p13.12 19 14073479A> G null E G 199 199 missense 0.943 probably damaging 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs995519894 19p13.12 19 14073482G> T null R L 200 200 missense 0.949 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs995519894 19p13.12 19 14073482G> C null R P 200 200 missense 0.979 probably damaging 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1401071081 19p13.12 19 14073484G> A null A T 201 201 missense 0.996 probably damaging 0.06 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs28477837 19p13.12 19 14073501G> T null Q H 206 206 missense 0.873 possibly damaging 0.03 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1395115679 19p13.12 19 14073509G> A null R Q 209 209 missense 0.975 probably damaging 0.02 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1568514913 19p13.12 19 14073514A> T null I F 211 211 missense 0.855 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1188543025 19p13.12 19 14073521G> T null R L 213 213 missense 0.995 probably damaging 0.08 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1395258007 19p13.12 19 14073529C> A null H N 216 216 missense 0.0 benign 0.14 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1027043919 19p13.12 19 14073533G> A null R Q 217 217 missense 0.994 probably damaging 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1216934658 19p13.12 19 14073539C> A null A E 219 219 missense 0.058 benign 1.0 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs964159897 19p13.12 19 14073560T> C null V A 226 226 missense 0.0 benign 0.42 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes rs554232124 19p13.12 19 14073567G> C null E D 228 228 0.000599 missense 0.083 benign 0.42 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1177175894 19p13.12 19 14073569C> T null P L 229 229 missense 0.001 benign 0.74 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs879391818 19p13.12 19 14073575C> A null A D 231 231 missense 0.001 benign 1.0 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs879391818 19p13.12 19 14073575C> T null A V 231 231 missense 0.003 benign 0.21 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,TOPMed,gnomAD rs572316093 19p13.12 19 14073577C> G null R G 232 232 0.003794 missense 0.0 benign 0.15 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,TOPMed,gnomAD rs572316093 19p13.12 19 14073577C> T null R W 232 232 0.003794 missense 0.312 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1357838001 19p13.12 19 14073581C> A null S * 233 233 stop gained 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1339613863 19p13.12 19 14073580T> G null S A 233 233 missense 0.011 benign 0.16 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1357838001 19p13.12 19 14073581C> T null S L 233 233 missense 0.0 benign 0.06 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs947551139 19p13.12 19 14073584C> T null P L 234 234 missense 0.01 benign 0.06 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1436176016 19p13.12 19 14073587C> A null P Q 235 235 missense 0.782 possibly damaging 0.15 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1375568264 19p13.12 19 14073593C> A null P Q 237 237 missense 0.999 probably damaging 0.24 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1375568264 19p13.12 19 14073593C> G null P R 237 237 missense 0.999 probably damaging 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1043473513 19p13.12 19 14073596T> A null L Q 238 238 missense 0.982 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1472692778 19p13.12 19 14073604C> T null L F 241 241 missense 0.952 probably damaging 0.02 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs934981979 19p13.12 19 14073610C> T null R C 243 243 missense 0.832 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1376177575 19p13.12 19 14073611G> A null R H 243 243 missense 0.832 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1444587105 19p13.12 19 14073629C> T null A V 249 249 missense 0.217 benign 0.11 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1215042251 19p13.12 19 14073638G> T null G V 252 252 missense 0.367 benign 0.12 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs974672026 19p13.12 19 14073653C> G null A G 257 257 missense 0.006 benign 0.04 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs974672026 19p13.12 19 14073653C> T null A V 257 257 missense 0.084 benign 0.1 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1027145356 19p13.12 19 14073659A> G null D G 259 259 missense 0.0 benign 1.0 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1371951844 19p13.12 19 14073685G> T null E * 268 268 missense 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs12982998 19p13.12 19 14073689C> A null P H 269 269 missense 0.0 benign 0.02 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs905009808 19p13.12 19 14073698G> C null R P 272 272 missense 0.0 benign 0.1 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1236827527 19p13.12 19 14073701C> T null P L 273 273 missense 0.0 benign 0.06 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1236827527 19p13.12 19 14073701C> G null P R 273 273 missense 0.0 benign 0.09 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1270409133 19p13.12 19 14073707C> T null S L 275 275 missense 0.003 benign 0.3 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1416195313 19p13.12 19 14073709G> A null A T 276 276 missense 0.06 benign 0.16 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs995301078 19p13.12 19 14073719G> A null G D 279 279 missense 0.003 benign 0.09 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1026994865 19p13.12 19 14073721G> A null G R 280 280 missense 0.0 benign 0.72 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,TOPMed,gnomAD rs56051282 19p13.12 19 14073728G> T null R L 282 282 missense 0.0 benign 0.05 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,TOPMed,gnomAD rs56051282 19p13.12 19 14073728G> A null R Q 282 282 missense 0.0 benign 0.09 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1456403725 19p13.12 19 14073727C> T null R W 282 282 missense 0.0 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1455290146 19p13.12 19 14073731T> C null V A 283 283 missense 0.023 benign 0.02 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1484331314 19p13.12 19 14073730G> A null V M 283 283 missense 0.821 possibly damaging 0.02 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1197880146 19p13.12 19 14073736G> C null G R 285 285 missense 0.093 benign 0.04 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,TOPMed,gnomAD rs772509019 19p13.12 19 14073740G> T null S I 286 286 missense 0.0 benign 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,TOPMed,gnomAD rs772509019 19p13.12 19 14073740G> A null S N 286 286 missense 0.0 benign 0.09 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1432900179 19p13.12 19 14073741C> G null S R 286 286 missense 0.0 benign 1.0 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1234915712 19p13.12 19 14073745C> T null P S 288 288 missense 0.395 benign 0.09 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1171583513 19p13.12 19 14073749C> A null P Q 289 289 missense 0.006 benign 0.06 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1171583513 19p13.12 19 14073749C> G null P R 289 289 missense 0.006 benign 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,TOPMed,gnomAD rs760190957 19p13.12 19 14073752C> T null P L 290 290 missense 0.001 benign 0.07 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs921533572 19p13.12 19 14073761C> T null P L 293 293 missense 0.013 benign 0.24 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs921533572 19p13.12 19 14073761C> A null P Q 293 293 missense 0.09 benign 0.42 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs921533572 19p13.12 19 14073761C> G null P R 293 293 missense 0.619 possibly damaging 0.39 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs143802484 19p13.12 19 14073760C> T null P S 293 293 0.000399 missense 0.367 benign 0.1 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs143802484 19p13.12 19 14073760C> A null P T 293 293 0.000399 missense 0.451 possibly damaging 0.06 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1273230248 19p13.12 19 14073772G> A null E K 297 297 missense 0.021 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1273230248 19p13.12 19 14073772G> C null E Q 297 297 missense 0.031 benign 0.02 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1367186156 19p13.12 19 14073776A> C null Q P 298 298 missense 0.367 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1297494711 19p13.12 19 14073791T> C null V A 303 303 missense 0.003 benign 0.34 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1297494711 19p13.12 19 14073791T> G null V G 303 303 missense 0.158 benign 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1315951935 19p13.12 19 14073794G> C null R P 304 304 missense 0.422 benign 0.03 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,TOPMed,gnomAD rs769388704 19p13.12 19 14073796G> T null E * 305 305 missense 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,TOPMed,gnomAD rs769388704 19p13.12 19 14073796G> A null E K 305 305 missense 0.196 benign 0.05 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs142911990 19p13.12 19 14073799C> A null R S 306 306 0.002396 missense 0.882 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1218749595 19p13.12 19 14073804G> T null E D 307 307 missense 0.325 benign 0.02 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1599317424 19p13.12 19 14073803A> G null E G 307 307 missense 0.402 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1403092680 19p13.12 19 14073802G> C null E Q 307 307 missense 0.601 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1468767496 19p13.12 19 14073808G> A null E K 309 309 missense 0.027 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1307194526 19p13.12 19 14073816G> C null Q H 311 311 missense 0.865 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1213263531 19p13.12 19 14073815A> C null Q P 311 311 missense 0.682 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1213263531 19p13.12 19 14073815A> G null Q R 311 311 missense 0.482 possibly damaging 0.08 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,TOPMed,gnomAD rs762726115 19p13.12 19 14073818G> A null R H 312 312 missense 0.738 possibly damaging 0.02 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1568515078 19p13.12 19 14073817C> A null R S 312 312 missense 0.416 benign 0.02 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,gnomAD rs763792410 19p13.12 19 14073820C> A null Q K 313 313 missense 0.277 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1426289043 19p13.12 19 14073821A> C null Q P 313 313 missense 0.566 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1426289043 19p13.12 19 14073821A> G null Q R 313 313 missense 0.277 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1170677386 19p13.12 19 14073824G> A null R Q 314 314 missense 0.018 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1477118812 19p13.12 19 14073823C> T null R W 314 314 missense 0.796 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs988197162 19p13.12 19 14073827G> T null R L 315 315 missense 0.003 benign 0.91 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1463024022 19p13.12 19 14073830G> T null S I 316 316 missense 0.919 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1463024022 19p13.12 19 14073830G> A null S N 316 316 missense 0.844 possibly damaging 0.02 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1349475445 19p13.12 19 14073832G> T null V F 317 317 missense 0.214 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1349475445 19p13.12 19 14073832G> C null V L 317 317 missense 0.003 benign 0.44 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs532293955 19p13.12 19 14073839G> A null G D 319 319 0.0002 missense 0.817 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1290388774 19p13.12 19 14073845C> T null A V 321 321 missense 0.049 benign 0.14 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs949090098 19p13.12 19 14073849G> C null E D 322 322 missense 0.003 benign 0.27 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,TOPMed,gnomAD rs762478898 19p13.12 19 14073854A> G null K R 324 324 missense 0.001 benign 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs905127799 19p13.12 19 14073858G> T null E D 325 325 missense 0.003 benign 0.13 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs12983322 19p13.12 19 14073860C> A null P H 326 326 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs12983322 19p13.12 19 14073860C> T null P L 326 326 missense 0.615 possibly damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs12983322 19p13.12 19 14073860C> G null P R 326 326 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1336876257 19p13.12 19 14073863C> A null T K 327 327 missense 0.049 benign 0.05 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1336876257 19p13.12 19 14073863C> T null T M 327 327 missense 0.381 benign 0.04 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1048257896 19p13.12 19 14073869G> T null S I 329 329 missense 0.01 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1288570953 19p13.12 19 14073870C> A null S R 329 329 missense 0.551 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1023297015 19p13.12 19 14073871C> T null L F 330 330 missense 0.992 probably damaging 0.05 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1186891041 19p13.12 19 14074390C> A null A E 332 332 missense 0.003 benign 0.24 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1487472088 19p13.12 19 14073877G> C null A P 332 332 missense 0.006 benign 0.08 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1281476346 19p13.12 19 14074393G> T null S I 333 333 missense 0.012 benign 0.02 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs908518646 19p13.12 19 14074398G> A null G S 335 335 missense 0.824 possibly damaging 0.17 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1199101015 19p13.12 19 14074399G> T null G V 335 335 missense 0.907 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,gnomAD rs779120575 19p13.12 19 14074401G> A null D N 336 336 missense 0.013 benign 0.07 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1438922841 19p13.12 19 14074405G> A null G E 337 337 missense 0.999 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1200566468 19p13.12 19 14074412G> C null L F 339 339 missense 0.998 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1024720136 19p13.12 19 14074422T> C null W R 343 343 missense 0.997 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes rs571843273 19p13.12 19 14074423G> C null W S 343 343 0.0002 missense 0.996 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,gnomAD rs772454436 19p13.12 19 14074426C> T null P L 344 344 missense 0.964 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1439297769 19p13.12 19 14074425C> T null P S 344 344 missense 0.539 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1476884246 19p13.12 19 14074429C> A null P H 345 345 missense 0.982 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1397071286 19p13.12 19 14074431C> G null R G 346 346 missense 0.766 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs554467018 19p13.12 19 14074432G> A null R H 346 346 0.0002 missense 0.049 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1397071286 19p13.12 19 14074431C> A null R S 346 346 missense 0.766 possibly damaging 0.19 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1328660372 19p13.12 19 14074435G> A null R K 347 347 missense 0.031 benign 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1328660372 19p13.12 19 14074435G> C null R T 347 347 missense 0.744 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1003518665 19p13.12 19 14074439G> T null K N 348 348 missense 0.548 possibly damaging 0.17 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,gnomAD rs747601725 19p13.12 19 14074438A> G null K R 348 348 missense 0.018 benign 0.07 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs572407856 19p13.12 19 14074440G> T null V F 349 349 0.0002 missense 0.136 benign 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs572407856 19p13.12 19 14074440G> C null V L 349 349 0.0002 missense 0.011 benign 0.06 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1056173763 19p13.12 19 14074459A> G null E G 355 355 missense 0.767 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs952395022 19p13.12 19 14074458G> A null E K 355 355 missense 0.702 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1312779781 19p13.12 19 14074463G> C null Q H 356 356 missense 0.821 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs370521113 19p13.12 19 14074712C> T null R C 359 359 0.001198 missense 0.003 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs370521113 19p13.12 19 14074712C> A null R S 359 359 0.001198 missense 0.144 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,TOPMed,gnomAD rs760728666 19p13.12 19 14074717A> C null K N 360 360 missense 0.21 benign 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1295638556 19p13.12 19 14074721T> G null * G 362 362 stop lost 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs868182848 Xq27.1 X 139932035C> T null R H 3 3 missense 0.251 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1181748022 Xq27.1 X 139932033G> A null R W 4 4 missense 0.307 benign 0.08 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs778961255 Xq27.1 X 139932030T> C null S G 5 5 missense 0.012 benign 0.49 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs756102804 Xq27.1 X 139932029C> G null S T 5 5 missense 0.0 benign 0.69 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1201369752 Xq27.1 X 139932020C> T null R H 8 8 missense 0.139 benign 0.04 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs985796448 Xq27.1 X 139932021G> T null R S 8 8 missense 0.015 benign 0.04 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1232126837 Xq27.1 X 139826817C> T null G R 12 12 missense 0.015 benign 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs747995530 Xq27.1 X 139826804C> T null R Q 16 16 missense 0.096 benign 0.34 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1443011660 Xq27.1 X 139826802C> A null V F 17 17 missense 0.238 benign 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs754737319 Xq27.1 X 139826798C> T null G D 18 18 missense 0.998 probably damaging 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs778844383 Xq27.1 X 139826799C> T null G S 18 18 missense 0.997 probably damaging 0.13 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1350894484 Xq27.1 X 139826795G> C null T R 19 19 missense 0.994 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1390887404 Xq27.1 X 139826793G> A null R C 20 20 missense 0.995 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs988962095 Xq27.1 X 139826790T> C null T A 21 21 missense 0.979 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs956360939 Xq27.1 X 139826780A> G null V A 24 24 missense 0.049 benign 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs577732149 Xq27.1 X 139826774T> C null N S 26 26 missense 0.003 benign 0.12 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs371311929 Xq27.1 X 139826772G> A null H Y 27 27 missense 0.121 benign 0.06 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,gnomAD rs768884689 Xq27.1 X 139826766C> T null V I 29 29 0.00106 missense 0.0 benign 0.39 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs768123444 Xq27.1 X 139826762G> A null S L 30 30 missense 0.106 benign 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs780434359 Xq27.1 X 139826756G> A null T I 32 32 0.000265 missense 0.067 benign 0.18 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1215787567 Xq27.1 X 139826745T> C null I V 36 36 missense 0.0 benign 0.41 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs763234673 Xq27.1 X 139826735C> T null R K 39 39 missense 0.001 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1175330508 Xq27.1 X 139826726T> C null D G 42 42 missense 0.0 benign 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1271571781 Xq27.1 X 139826717A> G null I T 45 45 missense 0.964 probably damaging 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1473658479 Xq27.1 X 139826715C> T null V I 46 46 missense 0.007 benign 0.34 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs749993412 Xq27.1 X 139819423G> T null T K 51 51 missense 0.99 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1211547584 Xq27.1 X 139819415T> C null N D 54 54 missense 0.979 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,gnomAD rs201273611 Xq27.1 X 139819413A> T null N K 54 54 missense 0.986 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs780679084 Xq27.1 X 139819392A> T null F L 61 61 missense 0.961 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1485593813 Xq27.1 X 139819391C> G null E Q 62 62 missense 0.986 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs757821422 Xq27.1 X 139819369T> C null N S 69 69 missense 0.979 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1224475078 Xq27.1 X 139819355T> A null I L 74 74 missense 0.811 possibly damaging 0.15 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl,dbSNP rs1064796558 Xq27.1 X 139819340G> A null Q * 79 79 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1220816522 Xq27.1 X 139816933T> C null D G 83 83 missense 0.991 probably damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs749160335 Xq27.1 X 139816916C> G null V L 89 89 missense 0.017 benign 0.1 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs779686911 Xq27.1 X 139816913T> G null T P 90 90 missense 0.994 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs374239442 Xq27.1 X 139816904G> A null L F 93 93 missense 0.994 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs780753046 Xq27.1 X 139816886T> C null I V 99 99 missense 0.811 possibly damaging 0.22 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1345526332 Xq27.1 X 139816882G> T null T N 100 100 missense 0.99 probably damaging 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1302490912 Xq27.1 X 139816880C> T null V I 101 101 missense 0.949 probably damaging 0.06 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2491014 Xq27.1 X 139814971A> T null C * 111 111 0.007947 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs79770109 Xq27.1 X 139814966C> A null R I 113 113 missense 0.988 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2491014 pubmed:15533723 Xq27.1 X 139814971A> C null C W 114 114 0.007947 missense 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs775416752 Xq27.1 X 139814950A> C null N K 118 118 missense 0.003 benign 0.51 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs762800219 Xq27.1 X 139814951T> C null N S 118 118 missense 0.066 benign 0.04 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1337436321 Xq27.1 X 139814947T> A null E D 119 119 missense 0.979 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1201681938 Xq27.1 X 139814937T> C null S G 123 123 missense 0.09 benign 0.5 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs141053445 Xq27.1 X 139814934T> C null T A 124 124 missense 0.0 benign 0.21 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs918691679 Xq27.1 X 139814925T> C null I V 127 127 missense 0.811 possibly damaging 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1481034691 Xq27.1 X 139814917T> G null E D 129 129 missense 0.979 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1393975712 Xq27.1 X 139814915T> C null N S 130 130 missense 0.979 probably damaging 0.71 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs868329011 Xq27.1 X 139814910T> C null K E 132 132 missense 0.0 benign 0.8 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs965839431 Xq27.1 X 139814907G> A null R * 133 133 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs770545434 Xq27.1 X 139814890A> C null S R 138 138 missense 0.988 probably damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs761897152 Xq27.1 X 139804599C> T null V I 143 143 missense 0.949 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1603377655 Xq27.1 X 139804596C> A null G C 144 144 missense 0.999 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC rs12835062 Xq27.1 X 139804584C> A null E * 148 148 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC rs12835062 Xq27.1 X 139804584C> G null E Q 148 148 missense 0.986 probably damaging 0.05 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1385689560 Xq27.1 X 139804581C> T null V I 149 149 missense 0.949 probably damaging 0.15 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1603377633 Xq27.1 X 139804577T> C null Q R 150 150 missense 0.053 benign 0.33 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs759371950 Xq27.1 X 139804569C> T null E K 153 153 missense 0.979 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1387521664 Xq27.1 X 139804559G> C null P R 156 156 missense 0.997 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1452216664 cosmic curated [Cosmic]: breast cosmic_study:414 Xq27.1 X 139804560G> A null P S 156 156 missense 0.994 probably damaging 0.0 deleterious 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs770635734 Xq27.1 X 139804538G> T null S * 163 163 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1025067463 Xq27.1 X 139804535G> C null S C 164 164 missense 0.994 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs780307263 Xq27.1 X 139804523T> A null D V 168 168 missense 0.997 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1336173919 Xq27.1 X 139804506T> C null T A 174 174 missense 0.979 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs747656739 Xq27.1 X 139804505G> T null T N 174 174 missense 0.99 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs779312013 Xq27.1 X 139804483T> G null E D 181 181 missense 0.979 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs766175328 Xq27.1 X 139802338G> A null T I 186 186 missense 0.001 benign 0.06 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs766175328 Xq27.1 X 139802338G> C null T R 186 186 missense 0.324 benign 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs199612746 Xq27.1 X 139802336G> T null H N 187 187 missense 0.16 benign 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs771707520 Xq27.1 X 139802331A> T null Y * 188 188 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140504622 Xq27.1 X 139802324G> A null R C 191 191 0.000265 missense 0.681 possibly damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs897543909 Xq27.1 X 139802323C> T null R H 191 191 missense 0.003 benign 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs897543909 Xq27.1 X 139802323C> A null R L 191 191 missense 0.223 benign 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs897543909 Xq27.1 X 139802323C> G null R P 191 191 missense 0.555 possibly damaging 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs773881674 Xq27.1 X 139802315T> C null I V 194 194 missense 0.001 benign 0.34 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs944397473 Xq27.1 X 139802312C> G null A P 195 195 missense 0.162 benign 0.21 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1569462672 Xq27.1 X 139802311G> A null A V 195 195 missense 0.045 benign 0.57 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs367974943 Xq27.1 X 139802309G> T null L M 196 196 missense 0.996 probably damaging 0.05 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1166890827 Xq27.1 X 139802308A> G null L P 196 196 missense 0.997 probably damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs769113317 Xq27.1 X 139802300C> T null A T 199 199 missense 0.006 benign 0.46 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,gnomAD rs779359689 Xq27.1 X 139802291T> C null I V 202 202 0.00053 missense 0.856 possibly damaging 0.32 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1480053055 Xq27.1 X 139802288C> G null D H 203 203 missense 0.759 possibly damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs770291563 Xq27.1 X 139802284G> T null T N 204 204 missense 0.0 benign 0.23 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs746182778 Xq27.1 X 139802279G> C null R G 206 206 missense 0.158 benign 0.36 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs188113308 Xq27.1 X 139802278C> T null R Q 206 206 0.000265 missense 0.003 benign 0.66 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs757468405 Xq27.1 X 139802270T> C null I V 209 209 missense 0.856 possibly damaging 0.28 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs751654828 Xq27.1 X 139802261C> G null E Q 212 212 missense 0.99 probably damaging 0.86 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs758111978 Xq27.1 X 139802258G> A null Q * 213 213 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs777893450 Xq27.1 X 139802242A> C null L R 218 218 missense 0.997 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs753780083 Xq27.1 X 139802237T> A null K * 220 220 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs766263480 Xq27.1 X 139802236T> C null K R 220 220 missense 0.001 benign 0.57 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1177040233 Xq27.1 X 139800106C> A null V F 222 222 missense 0.257 benign 0.04 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1278047178 Xq27.1 X 139800099C> T null R Q 224 224 missense 0.975 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374927991 Xq27.1 X 139800093T> C null N S 226 226 0.000265 missense 0.0 benign 0.19 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1263887991 Xq27.1 X 139800073C> G null E Q 233 233 missense 0.0 benign 0.08 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs899218699 Xq27.1 X 139800067C> G null V L 235 235 missense 0.018 benign 0.25 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs755949628 Xq27.1 X 139798739A> C null L V 239 239 missense 0.984 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1359811246 Xq27.1 X 139798735C> T null G E 240 240 missense 0.999 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs758206166 Xq27.1 X 139798736C> T null G R 240 240 missense 0.999 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs754539347 Xq27.1 X 139798705G> A null T M 250 250 missense 0.748 possibly damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1385578853 Xq27.1 X 139798697T> C null N D 253 253 missense 0.984 probably damaging 0.2 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1385578853 Xq27.1 X 139798697T> G null N H 253 253 missense 0.997 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1183274142 Xq27.1 X 139798696T> C null N S 253 253 missense 0.984 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs753264253 Xq27.1 X 139798693G> A null T I 254 254 missense 0.996 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1448745003 Xq27.1 X 139798691C> T null E K 255 255 missense 0.0 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs761082044 Xq27.1 X 139798682A> G null Y H 258 258 missense 0.996 probably damaging 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs772022885 Xq27.1 X 139798346C> T null V I 262 262 missense 0.963 probably damaging 0.42 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs772022885 Xq27.1 X 139798346C> G null V L 262 262 missense 0.963 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1603373553 Xq27.1 X 139798330T> G null E A 267 267 missense 0.984 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs747901190 Xq27.1 X 139798319C> T null A T 271 271 missense 0.994 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1333809835 Xq27.1 X 139798310A> T null Y N 274 274 missense 0.996 probably damaging 0.06 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs778675982 Xq27.1 X 139798306T> C null Q R 275 275 missense 0.961 probably damaging 0.06 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs754984413 Xq27.1 X 139798299T> A null K N 277 277 missense 0.993 probably damaging 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1197757592 Xq27.1 X 139798289G> A null R C 281 281 missense 0.0 benign 0.05 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs753454802 Xq27.1 X 139798280C> T null V I 284 284 missense 0.963 probably damaging 0.08 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs958565980 Xq27.1 X 139797322T> C null I V 288 288 missense 0.856 possibly damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed rs763069170 Xq27.1 X 139797290G> C null I M 298 298 missense 0.988 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs759646673 Xq27.1 X 139797273G> A null A V 304 304 missense 0.006 benign 0.82 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1178653328 Xq27.1 X 139797267C> A null C F 306 306 missense 0.994 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs772112736 Xq27.1 X 139797262T> C null T A 308 308 missense 0.001 benign 0.22 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1353707269 Xq27.1 X 139797250C> T null V I 312 312 missense 0.001 benign 0.38 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1227337388 Xq27.1 X 139797243T> C null Q R 314 314 missense 0.961 probably damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs774013567 Xq27.1 X 139797240C> T null S N 315 315 missense 0.003 benign 0.15 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs768413801 Xq27.1 X 139797238T> C null T A 316 316 missense 0.006 benign 0.52 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1569459943 Xq27.1 X 139797237G> T null T N 316 316 missense 0.0 benign 0.44 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs368191959 Xq27.1 X 139797231T> C null Y C 318 318 missense 0.736 possibly damaging 0.2 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs779692550 Xq27.1 X 139797226C> A null D Y 320 320 missense 0.999 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1323535656 Xq27.1 X 139797215C> G null W C 323 323 missense 0.997 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1190038325 Xq27.1 X 139797207T> C null Q R 326 326 missense 0.003 benign 0.08 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1239229087 Xq27.1 X 139797201G> A null T I 328 328 missense 0.996 probably damaging 0.1 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1255350200 Xq27.1 X 139797194T> G null K N 330 330 missense 0.993 probably damaging 0.3 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1471866887 Xq27.1 X 139797191C> G null E D 331 331 missense 0.984 probably damaging 0.22 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs957402892 Xq27.1 X 139797190G> A null R * 332 332 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,TOPMed,gnomAD rs139162586 Xq27.1 X 139797189C> T null R Q 332 332 missense 0.216 benign 0.04 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1318540161 Xq27.1 X 139797183G> T null T N 334 334 missense 0.131 benign 0.34 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs765266896 Xq27.1 X 139797180A> C null L W 335 335 0.000265 missense 0.0 benign 0.18 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1486796737 Xq27.1 X 139796467A> C null L V 338 338 missense 0.979 probably damaging 0.05 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs761828644 Xq27.1 X 139796454G> C null T S 342 342 missense 0.984 probably damaging 0.36 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs768342557 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine cosmic_study:375,cosmic_study:419 Xq27.1 X 139796452C> T null D N 343 343 missense 0.994 probably damaging 0.0 deleterious 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC rs147377814 Xq27.1 X 139796440A> G null F L 347 347 missense 0.971 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs775030725 Xq27.1 X 139796426G> T null F L 351 351 missense 0.971 probably damaging 0.04 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs769417087 Xq27.1 X 139796419T> C null I V 354 354 missense 0.856 possibly damaging 0.1 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1236256718 Xq27.1 X 139796412G> C null P R 356 356 missense 0.998 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1178015701 Xq27.1 X 139796402C> A null M I 359 359 missense 0.758 possibly damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1339979206 Xq27.1 X 139796404T> A null M L 359 359 missense 0.65 possibly damaging 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1436026009 Xq27.1 X 139796395T> A null T S 362 362 missense 0.984 probably damaging 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs200542850 Xq27.1 X 139796379T> C null K R 367 367 0.000265 missense 0.984 probably damaging 0.04 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs200542850 Xq27.1 X 139796379T> G null K T 367 367 0.000265 missense 0.99 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs747472093 Xq27.1 X 139796363G> C null F L 372 372 missense 0.214 benign 0.2 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs778300185 Xq27.1 X 139796359T> C null I V 374 374 missense 0.07 benign 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1017900566 Xq27.1 X 139796347T> C null K E 378 378 missense 0.142 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs758709585 Xq27.1 X 139796338A> G null Y H 381 381 missense 0.419 benign 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1367437587 Xq27.1 X 139796332C> T null E K 383 383 missense 0.984 probably damaging 0.13 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs920415310 Xq27.1 X 139796327T> G null E D 384 384 missense 0.984 probably damaging 0.19 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1184765821 Xq27.1 X 139796322T> C null N S 386 386 missense 0.045 benign 0.09 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs753082643 Xq27.1 X 139796320C> T null E K 387 387 missense 0.984 probably damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1464978015 Xq27.1 X 139796314C> A null A S 389 389 missense 0.99 probably damaging 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1464978015 Xq27.1 X 139796314C> T null A T 389 389 missense 0.994 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs755247114 Xq27.1 X 139796301G> A null T I 393 393 missense 0.996 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1270852495 Xq27.1 X 139789485C> A null D Y 404 404 missense 0.955 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1603367917 Xq27.1 X 139789463G> C null T S 411 411 missense 0.984 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1199299060 Xq27.1 X 139789445T> C null N S 417 417 missense 0.984 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl,dbSNP rs1556323334 cosmic curated [UniProt]: HAXL; decreased phosphatidylserine translocation from the outer to the inner leaflet of erythrocytes cell membrane, [ClinVar]: X-linked congenital hemolytic anemia, [Cosmic]: lung pubmed:26944472 pubmed:26944472,cosmic_study:417 Xq27.1 X 139789451G> T null T N 418 418 missense 1 Hemolytic anemia, congenital, X-linked (HAXL) An X-linked hematologic disease characterized by shortened survival of erythrocytes due to congenital hemolysis that cannot be compensated by bone marrow activity. Clinical features are mild jaundice and anemia. Red cells morphology is normal. MIM:301015 pubmed:26944472 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl,dbSNP rs1556323334 cosmic curated [UniProt]: HAXL; decreased phosphatidylserine translocation from the outer to the inner leaflet of erythrocytes cell membrane, [ClinVar]: X-linked congenital hemolytic anemia, [Cosmic]: lung pubmed:26944472 pubmed:26944472,cosmic_study:417 Xq27.1 X 139789451G> T null T N 418 418 missense 1 X-linked congenital hemolytic anemia (HACXL) MIM:301015 ClinVar:RCV000678207 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1370378925 Xq27.1 X 139789432G> T null F L 421 421 missense 0.971 probably damaging 0.05 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed rs144350443 Xq27.1 X 139789410G> C null H D 429 429 missense 0.22 benign 0.2 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs754118102 Xq27.1 X 139789409T> C null H R 429 429 missense 0.22 benign 0.34 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs750497013 Xq27.1 X 139789370G> C null S C 442 442 missense 0.771 possibly damaging 0.09 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs750497013 Xq27.1 X 139789370G> A null S F 442 442 missense 0.715 possibly damaging 0.13 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs201410017 Xq27.1 X 139789350T> C null T A 449 449 missense 0.0 benign 0.59 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1321203663 Xq27.1 X 139789341C> G null D H 452 452 missense 0.576 possibly damaging 0.12 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1392732207 Xq27.1 X 139789338T> G null K Q 453 453 missense 0.098 benign 0.28 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs762947590 Xq27.1 X 139789337T> C null K R 453 453 missense 0.003 benign 0.33 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs757213577 Xq27.1 X 139788324A> G null L P 463 463 missense 0.795 possibly damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs752658279 Xq27.1 X 139788322G> A null R C 464 464 missense 0.996 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs765107168 cosmic curated [Cosmic]: pancreas cosmic_study:382 Xq27.1 X 139788321C> T null R H 464 464 missense 0.995 probably damaging 0.07 tolerated 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs765107168 Xq27.1 X 139788321C> A null R L 464 464 missense 0.99 probably damaging 0.2 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs754814053 Xq27.1 X 139788318G> A null A V 465 465 missense 0.99 probably damaging 0.06 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1259162771 Xq27.1 X 139788315A> T null L * 466 466 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs753597334 Xq27.1 X 139788297A> T null V E 472 472 missense 0.993 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs766006082 Xq27.1 X 139788286T> C null T A 476 476 missense 0.0 benign 0.55 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC rs765633736 Xq27.1 X 139788282T> C null N S 477 477 0.000265 missense 0.36 benign 0.67 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1186907990 Xq27.1 X 139788279T> C null D G 478 478 missense 0.994 probably damaging 0.13 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1045378104 cosmic curated [Cosmic]: endometrium cosmic_study:419 Xq27.1 X 139788280C> T null D N 478 478 missense 0.994 probably damaging 0.1 tolerated 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1569455798 Xq27.1 X 139788262T> C null T A 484 484 missense 0.0 benign 0.78 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs775027303 Xq27.1 X 139788261G> A null T I 484 484 missense 0.007 benign 0.22 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs769252832 Xq27.1 X 139788253C> T null A T 487 487 missense 0.007 benign 0.5 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs949658326 Xq27.1 X 139788252G> A null A V 487 487 missense 0.142 benign 0.24 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1168194508 Xq27.1 X 139788248T> A null E D 488 488 missense 0.001 benign 0.72 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1353366586 Xq27.1 X 139788244T> C null T A 490 490 missense 0.984 probably damaging 0.66 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC rs749716771 Xq27.1 X 139788238T> C null I V 492 492 missense 0.0 benign 0.47 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1353928921 Xq27.1 X 139788234G> A null S F 493 493 missense 0.583 possibly damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs773311103 Xq27.1 X 139788214C> G null A P 500 500 missense 0.997 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs773311103 Xq27.1 X 139788214C> T null A T 500 500 missense 0.994 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs754325052 Xq27.1 X 139788196T> C null K E 506 506 0.000265 missense 0.363 benign 0.37 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs910569070 Xq27.1 X 139787242T> C null Y C 508 508 missense 0.405 benign 0.41 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,gnomAD rs779081002 Xq27.1 X 139787243A> G null Y H 508 508 0.00053 missense 0.0 benign 0.23 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs773974402 Xq27.1 X 139787240C> T null G R 509 509 missense 0.999 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs764752939 Xq27.1 X 139787234T> C null T A 511 511 missense 0.984 probably damaging 0.22 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1477604934 Xq27.1 X 139787233G> A null T I 511 511 missense 0.996 probably damaging 0.26 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1160031262 Xq27.1 X 139787231A> C null F V 512 512 missense 0.981 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs867529692 cosmic curated [Cosmic]: endometrium cosmic_study:419 Xq27.1 X 139787219G> A null R * 516 516 missense 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367833293 Xq27.1 X 139787218C> T null R Q 516 516 0.000265 missense 0.0 benign 0.25 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1459694543 Xq27.1 X 139787213C> G null G R 518 518 missense 0.901 possibly damaging 0.07 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs776955107 Xq27.1 X 139787210A> T null Y N 519 519 missense 0.024 benign 0.28 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs747151951 Xq27.1 X 139787203C> T null R K 521 521 missense 0.0 benign 0.4 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs17281983 Xq27.1 X 139787209T> C null Y C 522 522 0.03099 missense 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP rs376608133 Xq27.1 X 139787201C> T null V I 522 522 missense 0.003 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146526072 Xq27.1 X 139787191T> C null Q R 525 525 0.000265 missense 0.961 probably damaging 0.79 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs147128476 Xq27.1 X 139787188C> A null R I 526 526 missense 0.732 possibly damaging 0.08 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs147128476 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 Xq27.1 X 139787188C> T null R K 526 526 missense 0.01 benign 0.57 tolerated 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1348946284 Xq27.1 X 139787179A> G null I T 529 529 missense 0.001 benign 0.12 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1262768901 Xq27.1 X 139787180T> C null I V 529 529 missense 0.0 benign 0.54 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC rs759997844 Xq27.1 X 139785295C> T null E K 533 533 missense 0.984 probably damaging 0.67 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,gnomAD rs778570495 Xq27.1 X 139785286G> A null H Y 536 536 0.000265 missense 0.961 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs760892745 Xq27.1 X 139785268C> T null A T 542 542 missense 0.024 benign 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs866784413 Xq27.1 X 139785261C> T null R Q 544 544 missense 0.982 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs758140991 Xq27.1 X 139785262G> A null R W 544 544 missense 0.996 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1267066549 Xq27.1 X 139785258C> T null R Q 545 545 missense 0.982 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1033024084 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine cosmic_study:376,cosmic_study:419 Xq27.1 X 139785256G> A null R C 546 546 missense 0.996 probably damaging 0.03 deleterious 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1239527186 Xq27.1 X 139785244T> C null I V 550 550 missense 0.856 possibly damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs748136174 Xq27.1 X 139785241C> G null V L 551 551 missense 0.963 probably damaging 0.17 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs999502806 Xq27.1 X 139785228T> C null E G 555 555 missense 0.0 benign 0.08 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC rs752129647 Xq27.1 X 139783263G> T null D E 557 557 missense 0.001 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1446151211 Xq27.1 X 139783265C> T null D N 557 557 missense 0.045 benign 0.07 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1004687043 Xq27.1 X 139783264T> A null D V 557 557 missense 0.067 benign 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs898617886 Xq27.1 X 139783260T> C null I M 558 558 missense 0.621 possibly damaging 0.08 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1398144422 Xq27.1 X 139783262T> C null I V 558 558 missense 0.063 benign 0.24 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1466981278 Xq27.1 X 139783258A> T null L H 559 559 missense 0.198 benign 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,TOPMed,gnomAD rs148368628 Xq27.1 X 139783259G> C null L V 559 559 missense 0.015 benign 0.17 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs759958294 cosmic curated [Cosmic]: large_intestine cosmic_study:376 Xq27.1 X 139783234G> A null S L 567 567 missense 0.0 benign 0.01 deleterious 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs759958294 cosmic curated [Cosmic]: ovary pubmed:21720365,cosmic_study:331 Xq27.1 X 139783234G> C null S W 567 567 missense 0.523 possibly damaging 0.0 deleterious 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1030233190 Xq27.1 X 139783199C> G null E Q 579 579 missense 0.003 benign 0.32 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs144410603 Xq27.1 X 139783193T> C null T A 581 581 missense 0.045 benign 0.13 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs762001124 Xq27.1 X 139783178C> T null E K 586 586 missense 0.045 benign 0.13 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1255257978 Xq27.1 X 139783175G> A null R C 587 587 missense 0.481 possibly damaging 0.04 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs774279676 Xq27.1 X 139783174C> T null R H 587 587 missense 0.0 benign 0.22 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs750761999 Xq27.1 X 139782728C> A null D Y 591 591 missense 0.897 possibly damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1158144993 Xq27.1 X 139782719G> A null R W 594 594 missense 0.407 benign 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC rs761934223 Xq27.1 X 139782716T> C null T A 595 595 missense 0.027 benign 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1426891032 Xq27.1 X 139782697T> C null K R 601 601 missense 0.16 benign 0.71 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs149608378 Xq27.1 X 139782682T> A null D V 606 606 missense 0.462 possibly damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs763035660 Xq27.1 X 139782673T> C null E G 609 609 missense 0.073 benign 0.1 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs776753802 cosmic curated [Cosmic]: large_intestine pubmed:22810696,cosmic_study:376 Xq27.1 X 139782670C> A null R I 610 610 missense 0.241 benign 0.1 tolerated 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1478751562 Xq27.1 X 139782667A> G null I T 611 611 missense 0.107 benign 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs372582743 Xq27.1 X 139782665T> C null N D 612 612 missense 0.0 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1212483917 Xq27.1 X 139782653T> C null I V 616 616 missense 0.0 benign 0.26 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs773139955 Xq27.1 X 139782650C> G null E Q 617 617 missense 0.5 possibly damaging 0.18 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,gnomAD rs772716732 Xq27.1 X 139782628T> C null D G 624 624 0.000265 missense 0.045 benign 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1271326200 cosmic curated [Cosmic]: lung pubmed:22975805,cosmic_study:453 Xq27.1 X 139782620C> T null E K 627 627 missense 0.243 benign 0.53 tolerated 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1319201149 Xq27.1 X 139782605C> T null V I 632 632 missense 0.001 benign 0.28 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1569452773 cosmic curated [Cosmic]: large_intestine cosmic_study:152,cosmic_study:376 Xq27.1 X 139782599C> T null D N 634 634 missense 0.276 benign 0.52 tolerated 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1569452766 Xq27.1 X 139782595T> C null D G 635 635 missense 0.074 benign 0.33 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1333137198 Xq27.1 X 139782591A> C null I M 636 636 missense 0.198 benign 0.14 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs199734080 Xq27.1 X 139782592A> G null I T 636 636 missense 0.0 benign 0.06 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1325156070 Xq27.1 X 139782570A> C null I M 643 643 missense 0.141 benign 0.07 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs754479098 Xq27.1 X 139782562G> C null T S 646 646 missense 0.013 benign 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs748765102 Xq27.1 X 139782547T> C null K R 651 651 missense 0.001 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1323399487 Xq27.1 X 139774936G> C null A G 657 657 missense 0.99 probably damaging 0.04 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs773227972 Xq27.1 X 139774927A> G null I T 660 660 missense 0.974 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs771786667 Xq27.1 X 139774924T> G null E A 661 661 missense 0.123 benign 0.04 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1350736296 Xq27.1 X 139774913C> A null A S 665 665 missense 0.003 benign 0.71 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs201635387 Xq27.1 X 139774906C> T null G D 667 667 0.000265 missense 0.999 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1427074505 Xq27.1 X 139774892C> T null V M 672 672 missense 0.996 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1477535693 Xq27.1 X 139774885G> C null T S 674 674 missense 0.984 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1180690737 Xq27.1 X 139774873A> G null M T 678 678 missense 0.914 probably damaging 0.19 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs954915836 Xq27.1 X 139774874T> C null M V 678 678 missense 0.721 possibly damaging 0.15 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs138448381 Xq27.1 X 139774849T> C null Y C 686 686 missense 0.998 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs375231544 Xq27.1 X 139774841G> A null R C 689 689 missense 0.996 probably damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs780969333 Xq27.1 X 139774840C> T null R H 689 689 0.000265 missense 0.995 probably damaging 0.05 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs780969333 Xq27.1 X 139774840C> A null R L 689 689 0.000265 missense 0.99 probably damaging 0.07 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs757591056 Xq27.1 X 139774824G> T null N K 694 694 missense 0.045 benign 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1200248794 Xq27.1 X 139774823T> C null T A 695 695 missense 0.984 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs751934470 Xq27.1 X 139774818C> G null E D 696 696 missense 0.984 probably damaging 0.12 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs921050970 Xq27.1 X 139774816A> G null L P 697 697 missense 0.997 probably damaging 0.04 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs752903750 Xq27.1 X 139774804G> C null T S 701 701 missense 0.984 probably damaging 0.1 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs759642275 Xq27.1 X 139774798T> A null K I 703 703 missense 0.997 probably damaging 0.05 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs750417789 Xq27.1 X 139774796T> C null T A 704 704 missense 0.035 benign 0.25 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs767458821 Xq27.1 X 139774795G> A null T I 704 704 missense 0.402 benign 0.06 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs145685259 Xq27.1 X 139774792A> G null I T 705 705 missense 0.003 benign 0.56 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1434789567 Xq27.1 X 139774781C> T null E K 709 709 missense 0.984 probably damaging 0.54 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs774182787 Xq27.1 X 139774769C> G null D H 713 713 missense 0.999 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs774182787 Xq27.1 X 139774769C> T null D N 713 713 missense 0.994 probably damaging 0.16 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs768258707 Xq27.1 X 139774766G> C null R G 714 714 missense 0.99 probably damaging 0.23 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs371692295 Xq27.1 X 139774765C> G null R P 714 714 missense 0.995 probably damaging 0.12 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs371692295 Xq27.1 X 139774765C> T null R Q 714 714 missense 0.982 probably damaging 0.28 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs368485065 Xq27.1 X 139774747A> C null I R 720 720 missense 0.107 benign 0.26 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs368485065 Xq27.1 X 139774747A> G null I T 720 720 missense 0.0 benign 0.72 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs754885016 Xq27.1 X 139774743T> G null E D 721 721 0.000265 missense 0.001 benign 0.63 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs769314385 Xq27.1 X 139774744T> C null E G 721 721 missense 0.072 benign 0.08 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1042049467 Xq27.1 X 139774739G> A null R C 723 723 missense 0.0 benign 0.04 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs377281877 Xq27.1 X 139774738C> T null R H 723 723 missense 0.0 benign 0.7 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs771460135 Xq27.1 X 139774729A> G null L S 726 726 missense 0.996 probably damaging 0.05 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1283031975 cosmic curated [Cosmic]: large_intestine cosmic_study:376 Xq27.1 X 139774726A> G null L P 727 727 missense 0.141 benign 0.14 tolerated 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs778207882 Xq27.1 X 139774723T> C null H R 728 728 missense 0.001 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1284740285 Xq27.1 X 139774719C> A null E D 729 729 missense 0.003 benign 0.68 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1414058519 Xq27.1 X 139774714G> A null P L 731 731 missense 0.675 possibly damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1353384741 Xq27.1 X 139774712T> C null K E 732 732 missense 0.049 benign 0.89 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1035910505 Xq27.1 X 139774705G> A null T I 734 734 missense 0.021 benign 0.48 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs752991927 Xq27.1 X 139774700T> C null S G 736 736 missense 0.024 benign 0.62 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1360138226 Xq27.1 X 139774699C> T null S N 736 736 missense 0.0 benign 0.69 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1407181062 Xq27.1 X 139774696A> C null F C 737 737 missense 0.123 benign 0.18 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1157124634 Xq27.1 X 139774697A> C null F V 737 737 missense 0.006 benign 0.39 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs775150285 Xq27.1 X 139768427T> A null T S 742 742 missense 0.073 benign 0.38 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1033302877 Xq27.1 X 139768412A> C null Y D 747 747 missense 0.997 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1406317157 Xq27.1 X 139768402A> T null I N 750 750 missense 0.992 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1279944188 Xq27.1 X 139768387G> A null T I 755 755 missense 0.139 benign 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs769402351 Xq27.1 X 139768379G> A null L F 758 758 missense 0.791 possibly damaging 0.14 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1326019066 Xq27.1 X 139768375A> G null I T 759 759 missense 0.231 benign 0.31 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs759108325 Xq27.1 X 139768373G> T null L I 760 760 missense 0.255 benign 0.12 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1287370076 Xq27.1 X 139768372A> C null L R 760 760 missense 0.829 possibly damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1348627778 Xq27.1 X 139768363C> T null S N 763 763 missense 0.001 benign 0.38 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs910150280 Xq27.1 X 139768352T> C null S G 767 767 missense 0.0 benign 0.09 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1000068717 Xq27.1 X 139768331T> A null I F 774 774 missense 0.049 benign 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs776204130 Xq27.1 X 139768317T> C null I M 778 778 missense 0.646 possibly damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1325293210 Xq27.1 X 139768315C> A null C F 779 779 missense 0.231 benign 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs989701905 Xq27.1 X 139768313T> G null M L 780 780 missense 0.0 benign 0.32 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1426422415 Xq27.1 X 139768291C> T null C Y 787 787 missense 0.994 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs773545482 Xq27.1 X 139768285C> T null R Q 789 789 missense 0.982 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1332676000 Xq27.1 X 139763418T> C null I V 798 798 missense 0.856 possibly damaging 0.62 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs759236051 Xq27.1 X 139763415C> T null V I 799 799 missense 0.963 probably damaging 0.11 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs759236051 Xq27.1 X 139763415C> G null V L 799 799 missense 0.963 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1005483923 Xq27.1 X 139763385G> A null P S 809 809 missense 0.995 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs776092185 Xq27.1 X 139763382T> C null I V 810 810 missense 0.856 possibly damaging 0.14 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs760064762 Xq27.1 X 139763345C> G null S T 822 822 missense 0.971 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1269425951 Xq27.1 X 139763336A> G null L S 825 825 missense 0.996 probably damaging 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1005775674 Xq27.1 X 139762094T> C null K R 833 833 missense 0.984 probably damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs951603041 Xq27.1 X 139762091T> A null E V 834 834 missense 0.993 probably damaging 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs185013366 Xq27.1 X 139762086G> A null R C 836 836 0.00053 missense 0.996 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs768204585 Xq27.1 X 139762085C> T null R H 836 836 missense 0.995 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs768204585 Xq27.1 X 139762085C> A null R L 836 836 missense 0.99 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1355282473 Xq27.1 X 139762061T> C null Y C 844 844 missense 0.998 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1412617689 Xq27.1 X 139762035T> G null K Q 853 853 missense 0.174 benign 0.11 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs769086311 Xq27.1 X 139762034T> C null K R 853 853 missense 0.003 benign 0.5 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC rs775817548 Xq27.1 X 139762020C> A null A S 858 858 missense 0.049 benign 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1569440944 Xq27.1 X 139762004T> C null Y C 863 863 missense 0.998 probably damaging 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1452463514 Xq27.1 X 139761999C> T null V M 865 865 missense 0.996 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1166888505 Xq27.1 X 139761965T> C null Y C 876 876 missense 0.998 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1417098205 Xq27.1 X 139757866T> C null N S 878 878 missense 0.979 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1478698969 Xq27.1 X 139757864G> C null L V 879 879 missense 0.34 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs750027589 Xq27.1 X 139757856G> T null F L 881 881 missense 0.961 probably damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs755716761 Xq27.1 X 139757857A> G null F S 881 881 missense 0.981 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1445486422 Xq27.1 X 139757855T> C null I V 882 882 missense 0.811 possibly damaging 0.08 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs767149410 Xq27.1 X 139757845T> C null Q R 885 885 missense 0.946 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1156848494 Xq27.1 X 139757841A> C null F L 886 886 missense 0.961 probably damaging 0.08 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs752139499 Xq27.1 X 139757842A> T null F Y 886 886 missense 0.961 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1269965176 Xq27.1 X 139757818A> G null F S 894 894 missense 0.981 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1226320264 Xq27.1 X 139757813G> T null Q K 896 896 missense 0.915 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,gnomAD rs376433134 Xq27.1 X 139757812T> C null Q R 896 896 missense 0.946 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs750121703 Xq27.1 X 139750151G> A null P L 898 898 missense 0.997 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs938615516 Xq27.1 X 139750152G> A null P S 898 898 missense 0.995 probably damaging 0.1 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1431293873 Xq27.1 X 139750145T> C null Y C 900 900 missense 0.998 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1282061977 Xq27.1 X 139750121T> A null Y F 908 908 missense 0.984 probably damaging 0.21 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1234531315 Xq27.1 X 139750112C> G null C S 911 911 missense 0.981 probably damaging 0.44 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1448997772 Xq27.1 X 139750088G> A null A V 919 919 missense 0.255 benign 0.66 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1336286564 Xq27.1 X 139750085T> C null Y C 920 920 missense 0.998 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1328036355 Xq27.1 X 139750083T> C null S G 921 921 missense 0.218 benign 0.45 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs760188614 Xq27.1 X 139750065T> G null I L 927 927 missense 0.011 benign 0.22 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1008485451 Xq27.1 X 139750046G> A null T I 933 933 missense 0.003 benign 0.22 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1434325191 Xq27.1 X 139750047T> A null T S 933 933 missense 0.161 benign 0.58 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1263335193 Xq27.1 X 139750037G> A null P L 936 936 missense 0.997 probably damaging 0.06 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1393418716 Xq27.1 X 139750038G> A null P S 936 936 missense 0.995 probably damaging 0.05 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,gnomAD rs767808205 Xq27.1 X 139750035G> A null R * 937 937 0.000265 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,gnomAD rs201400223 Xq27.1 X 139750034C> T null R Q 937 937 missense 0.982 probably damaging 0.31 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1232833907 Xq27.1 X 139750028T> C null Y C 939 939 missense 0.998 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1180236840 Xq27.1 X 139750026T> C null M V 940 940 missense 0.013 benign 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs79484917 Xq27.1 X 139745856T> A null K * 941 941 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs775449508 Xq27.1 X 139745854T> A null K N 941 941 missense 0.003 benign 0.18 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs745623704 Xq27.1 X 139745838T> A null M L 947 947 missense 0.721 possibly damaging 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs745623704 Xq27.1 X 139745838T> C null M V 947 947 missense 0.721 possibly damaging 0.05 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs781037262 Xq27.1 X 139745831T> C null Q R 949 949 missense 0.961 probably damaging 0.66 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs756953682 Xq27.1 X 139745823G> A null P S 952 952 missense 0.995 probably damaging 0.25 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs746593846 Xq27.1 X 139745814A> G null Y H 955 955 missense 0.001 benign 0.07 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1187689265 Xq27.1 X 139745790C> T null E K 963 963 missense 0.438 benign 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs12849115 Xq27.1 X 139745780A> T null V E 966 966 missense 0.993 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs777164604 Xq27.1 X 139745778A> G null F L 967 967 missense 0.971 probably damaging 0.05 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1603339887 Xq27.1 X 139745766T> A null T S 971 971 missense 0.984 probably damaging 0.79 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs944483041 Xq27.1 X 139745763A> C null Y D 972 972 missense 0.848 possibly damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ESP,TOPMed,dbSNP,gnomAD rs55724992 cosmic curated [Cosmic]: large_intestine cosmic_study:376 Xq27.1 X 139745781C> T null V M 972 972 0.02596 missense 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1447122785 Xq27.1 X 139745762T> G null Y S 972 972 missense 0.697 possibly damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs373196740 Xq27.1 X 139745760A> G null F L 973 973 missense 0.006 benign 0.35 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs753180192 Xq27.1 X 139745754A> G null F L 975 975 missense 0.971 probably damaging 0.1 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1193587246 Xq27.1 X 139745751G> C null Q E 976 976 missense 0.028 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs987558525 Xq27.1 X 139745745C> T null A T 978 978 missense 0.001 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1293768298 Xq27.1 X 139745732T> C null E G 982 982 missense 0.072 benign 0.68 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs755385365 Xq27.1 X 139745729T> C null N S 983 983 missense 0.142 benign 0.06 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs757891503 Xq27.1 X 139743610C> A null W C 990 990 missense 0.771 possibly damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1268581461 Xq27.1 X 139743608G> C null T S 991 991 missense 0.984 probably damaging 0.4 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs747675445 Xq27.1 X 139743605A> G null F S 992 992 missense 0.406 benign 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1395262664 Xq27.1 X 139743582A> T null L I 1000 1000 missense 0.243 benign 0.09 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs779455838 Xq27.1 X 139743569A> G null V A 1004 1004 missense 0.977 probably damaging 0.07 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1166383481 Xq27.1 X 139741084T> C null D G 1011 1011 missense 0.994 probably damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs756474288 Xq27.1 X 139741078C> T null R Q 1013 1013 missense 0.141 benign 0.12 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs750778379 cosmic curated [Cosmic]: endometrium cosmic_study:419 Xq27.1 X 139741069G> A null T M 1016 1016 missense 0.998 probably damaging 0.0 deleterious 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs151005790 Xq27.1 X 139741062T> C null I M 1018 1018 missense 0.04 benign 0.24 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1430896781 Xq27.1 X 139741063A> G null I T 1018 1018 missense 0.462 possibly damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1480212800 Xq27.1 X 139741042C> A null G V 1025 1025 missense 0.999 probably damaging 0.11 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1391820454 Xq27.1 X 139741035T> G null L F 1027 1027 missense 0.996 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs201052330 Xq27.1 X 139741027T> C null Y C 1030 1030 0.000265 missense 0.998 probably damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs201052330 Xq27.1 X 139741027T> A null Y F 1030 1030 0.000265 missense 0.984 probably damaging 0.24 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1213368521 Xq27.1 X 139741007A> G null W R 1037 1037 missense 0.262 benign 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1348871617 Xq27.1 X 139740994A> G null I T 1041 1041 missense 0.053 benign 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1165464661 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 Xq27.1 X 139738068G> A null P S 1043 1043 missense 0.995 probably damaging 0.06 tolerated 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs868765474 Xq27.1 X 139738031G> A null A V 1055 1055 missense 0.99 probably damaging 0.66 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1400774603 Xq27.1 X 139738024C> G null M I 1057 1057 missense 0.813 possibly damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1261374106 Xq27.1 X 139738016G> A null S F 1060 1060 missense 0.994 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs890191882 Xq27.1 X 139738013A> G null V A 1061 1061 missense 0.06 benign 0.21 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1295591659 Xq27.1 X 139738003C> T null W * 1064 1064 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1296371577 Xq27.1 X 139737996T> C null I V 1067 1067 missense 0.0 benign 0.06 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs778114321 Xq27.1 X 139737990G> C null L V 1069 1069 missense 0.082 benign 0.16 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs142741321 Xq27.1 X 139737987G> T null L I 1070 1070 missense 0.979 probably damaging 0.4 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1386579435 Xq27.1 X 139737981A> G null F L 1072 1072 missense 0.961 probably damaging 0.5 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1296787479 Xq27.1 X 139737978T> C null I V 1073 1073 missense 0.001 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1288943023 Xq27.1 X 139737966G> A null P S 1077 1077 missense 0.994 probably damaging 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1373108916 Xq27.1 X 139737945A> T null L I 1084 1084 missense 0.001 benign 0.21 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1386385212 Xq27.1 X 139737940C> A null K N 1085 1085 missense 0.99 probably damaging 0.45 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,gnomAD rs374132692 Xq27.1 X 139737938T> C null N S 1086 1086 missense 0.009 benign 0.46 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1381247509 Xq27.1 X 139737936C> T null V I 1087 1087 missense 0.949 probably damaging 0.39 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs750271759 Xq27.1 X 139737929C> T null R K 1089 1089 missense 0.937 probably damaging 0.93 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1244523745 Xq27.1 X 139737926C> G null R T 1090 1090 missense 0.974 probably damaging 0.46 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1430518922 Xq27.1 X 139737920G> T null A D 1092 1092 missense 0.996 probably damaging 0.26 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1603335900 Xq27.1 X 139737921C> T null A T 1092 1092 missense 0.991 probably damaging 0.45 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP rs371297467 Xq27.1 X 139737918T> C null R G 1093 1093 missense 0.974 probably damaging 0.05 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed rs779997719 Xq27.1 X 139728958G> A null P L 1095 1095 missense 0.01 benign 0.32 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,gnomAD rs202068265 Xq27.1 X 139728946A> G null L P 1099 1099 0.000265 missense 0.991 probably damaging 0.33 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs147813784 Xq27.1 X 139728940A> G null M T 1101 1101 missense 0.01 benign 1.0 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1186048958 Xq27.1 X 139728941T> C null M V 1101 1101 missense 0.001 benign 0.37 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1273333146 Xq27.1 X 139728913C> T null S N 1110 1110 missense 0.007 benign 0.45 tolerated - low confidence 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) Ensembl rs1008485451 Xq27.1 X 139750046G> A null T I 3 3 missense 0.138 benign 0.18 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed,gnomAD rs1434325191 Xq27.1 X 139750047T> A null T S 3 3 missense 0.012 benign 0.33 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1263335193 Xq27.1 X 139750037G> A null P L 6 6 missense 0.897 possibly damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1393418716 Xq27.1 X 139750038G> A null P S 6 6 missense 0.329 benign 0.03 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) 1000Genomes,ExAC,gnomAD rs767808205 Xq27.1 X 139750035G> A null R * 7 7 0.000265 stop gained 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ESP,ExAC,gnomAD rs201400223 Xq27.1 X 139750034C> T null R Q 7 7 missense 0.009 benign 0.16 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1232833907 Xq27.1 X 139750028T> C null Y C 9 9 missense 1.0 probably damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1180236840 Xq27.1 X 139750026T> C null M V 10 10 missense 0.3 benign 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) Ensembl rs79484917 Xq27.1 X 139745856T> A null K * 11 11 stop gained 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,TOPMed,gnomAD rs775449508 Xq27.1 X 139745854T> A null K N 11 11 missense 0.015 benign 0.26 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,gnomAD rs745623704 Xq27.1 X 139745838T> A null M L 17 17 missense 0.003 benign 1.0 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,gnomAD rs745623704 Xq27.1 X 139745838T> C null M V 17 17 missense 0.097 benign 0.05 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,gnomAD rs781037262 Xq27.1 X 139745831T> C null Q R 19 19 missense 0.001 benign 1.0 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,TOPMed,gnomAD rs756953682 Xq27.1 X 139745823G> A null P S 22 22 missense 0.219 benign 0.45 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,TOPMed,gnomAD rs746593846 Xq27.1 X 139745814A> G null Y H 25 25 missense 0.028 benign 0.05 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1187689265 Xq27.1 X 139745790C> T null E K 33 33 missense 0.205 benign 0.07 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) Ensembl rs12849115 Xq27.1 X 139745780A> T null V E 36 36 missense 0.945 probably damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,TOPMed,gnomAD rs777164604 Xq27.1 X 139745778A> G null F L 37 37 missense 0.172 benign 0.04 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) Ensembl rs1603339887 Xq27.1 X 139745766T> A null T S 41 41 missense 0.149 benign 0.65 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed,gnomAD rs944483041 Xq27.1 X 139745763A> C null Y D 42 42 missense 0.786 possibly damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1447122785 Xq27.1 X 139745762T> G null Y S 42 42 missense 0.617 possibly damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ESP,ExAC,TOPMed,gnomAD rs373196740 Xq27.1 X 139745760A> G null F L 43 43 missense 0.036 benign 0.28 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,gnomAD rs753180192 Xq27.1 X 139745754A> G null F L 45 45 missense 0.012 benign 0.07 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed rs1193587246 Xq27.1 X 139745751G> C null Q E 46 46 missense 0.001 benign 0.95 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) Ensembl rs987558525 Xq27.1 X 139745745C> T null A T 48 48 missense 0.001 benign 1.0 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1293768298 Xq27.1 X 139745732T> C null E G 52 52 missense 0.0 benign 0.71 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,TOPMed,gnomAD rs755385365 Xq27.1 X 139745729T> C null N S 53 53 missense 0.843 possibly damaging 0.1 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,gnomAD rs757891503 Xq27.1 X 139743610C> A null W C 60 60 missense 0.447 possibly damaging 0.03 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1268581461 Xq27.1 X 139743608G> C null T S 61 61 missense 0.075 benign 0.33 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,gnomAD rs747675445 Xq27.1 X 139743605A> G null F S 62 62 missense 0.936 probably damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1395262664 Xq27.1 X 139743582A> T null L I 70 70 missense 0.805 possibly damaging 0.02 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,gnomAD rs779455838 Xq27.1 X 139743569A> G null V A 74 74 missense 0.928 probably damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed,gnomAD rs1166383481 Xq27.1 X 139741084T> C null D G 81 81 missense 0.999 probably damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,gnomAD rs756474288 Xq27.1 X 139741078C> T null R Q 83 83 missense 0.75 possibly damaging 0.04 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,TOPMed,gnomAD rs750778379 cosmic curated [Cosmic]: endometrium cosmic_study:419 Xq27.1 X 139741069G> A null T M 86 86 missense 1.0 probably damaging 0.0 deleterious 1 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ESP,ExAC,TOPMed,gnomAD rs151005790 Xq27.1 X 139741062T> C null I M 88 88 missense 0.168 benign 0.21 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1430896781 Xq27.1 X 139741063A> G null I T 88 88 missense 0.627 possibly damaging 0.05 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1480212800 Xq27.1 X 139741042C> A null G V 95 95 missense 1.0 probably damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed rs1391820454 Xq27.1 X 139741035T> G null L F 97 97 missense 1.0 probably damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs201052330 Xq27.1 X 139741027T> C null Y C 100 100 0.000265 missense 0.992 probably damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs201052330 Xq27.1 X 139741027T> A null Y F 100 100 0.000265 missense 0.248 benign 0.13 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1213368521 Xq27.1 X 139741007A> G null W R 107 107 missense 1.0 probably damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed,gnomAD rs1348871617 Xq27.1 X 139740994A> G null I T 111 111 missense 0.852 possibly damaging 0.01 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed rs1165464661 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 Xq27.1 X 139738068G> A null P S 113 113 missense 1.0 probably damaging 0.0 deleterious 1 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) Ensembl rs868765474 Xq27.1 X 139738031G> A null A V 125 125 missense 0.187 benign 1.0 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1400774603 Xq27.1 X 139738024C> G null M I 127 127 missense 0.036 benign 0.03 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed,gnomAD rs1261374106 Xq27.1 X 139738016G> A null S F 130 130 missense 0.992 probably damaging 0.01 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed,gnomAD rs890191882 Xq27.1 X 139738013A> G null V A 131 131 missense 0.511 possibly damaging 0.72 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1295591659 Xq27.1 X 139738003C> T null W * 134 134 stop gained 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1296371577 Xq27.1 X 139737996T> C null I V 137 137 missense 0.001 benign 0.03 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,gnomAD rs778114321 Xq27.1 X 139737990G> C null L V 139 139 missense 0.09 benign 0.07 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ESP,ExAC,TOPMed,gnomAD rs142741321 Xq27.1 X 139737987G> T null L I 140 140 missense 0.986 probably damaging 0.14 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1386579435 Xq27.1 X 139737981A> G null F L 142 142 missense 0.003 benign 0.5 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed rs1296787479 Xq27.1 X 139737978T> C null I V 143 143 missense 0.0 benign 1.0 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1288943023 Xq27.1 X 139737966G> A null P S 147 147 missense 0.998 probably damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed rs1373108916 Xq27.1 X 139737945A> T null L I 154 154 missense 0.077 benign 0.38 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed,gnomAD rs1386385212 Xq27.1 X 139737940C> A null K N 155 155 missense 0.154 benign 0.01 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ESP,ExAC,gnomAD rs374132692 Xq27.1 X 139737938T> C null N S 156 156 missense 0.001 benign 0.06 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed rs1381247509 Xq27.1 X 139737936C> T null V I 157 157 missense 0.007 benign 0.54 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,gnomAD rs750271759 Xq27.1 X 139737929C> T null R K 159 159 missense 0.024 benign 0.25 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed rs1244523745 Xq27.1 X 139737926C> G null R T 160 160 missense 0.172 benign 0.15 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1430518922 Xq27.1 X 139737920G> T null A D 162 162 missense 0.031 benign 0.36 tolerated - low confidence 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) Ensembl rs1603335900 Xq27.1 X 139737921C> T null A T 162 162 missense 0.0 benign 0.64 tolerated - low confidence 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ESP rs371297467 Xq27.1 X 139737918T> C null R G 163 163 missense 0.082 benign 0.01 deleterious - low confidence 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) Ensembl rs946964757 Xq27.1 X 139737793G> T null H N 165 165 missense 0.094 benign 0.6 tolerated - low confidence 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1373882016 Xq27.1 X 139737768T> A null * L 173 173 stop lost 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) 1000Genomes,ESP,TOPMed,dbSNP,gnomAD rs55724992 cosmic curated [Cosmic]: large_intestine cosmic_study:376 Xq27.1 X 139745781C> T null V M 972 972 0.02596 missense 1 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,TOPMed,gnomAD rs781998524 19q13.2 19 41869084A> G null T A 2 2 missense 0.012 benign 0.07 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 TOPMed,gnomAD rs1356155484 19q13.2 19 41869085C> T null T I 2 2 missense 0.03 benign 0.05 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ESP,TOPMed rs371193394 19q13.2 19 41869089G> C null K N 3 3 missense 0.678 possibly damaging 0.04 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 gnomAD rs1555841319 19q13.2 19 41869088A> G null K R 3 3 missense 0.327 benign 0.24 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 gnomAD rs1555841323 19q13.2 19 41869092C> G null I M 4 4 missense 0.206 benign 0.02 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,gnomAD rs782350250 19q13.2 19 41869094A> G null Y C 5 5 missense 0.484 possibly damaging 0.01 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 TOPMed,gnomAD rs1425684767 19q13.2 19 41869102C> T null R C 8 8 missense 0.031 benign 0.09 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,TOPMed rs782814286 19q13.2 19 41869103G> A null R H 8 8 missense 0.031 benign 0.07 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,TOPMed rs782814286 19q13.2 19 41869103G> C null R P 8 8 missense 0.054 benign 0.03 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 Ensembl,dbSNP rs121908649 [ClinVar]: Diamond-Blackfan anemia 1 pubmed:10598818 19q13.2 19 41869108A> T null R * 10 10 missense 0 Diamond-Blackfan anemia 1 (DBA1) Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. MIM:105650 pubmed:20301769,ClinVar:RCV000033185 A0A075B6E2 RPS19 40S ribosomal protein S19 Ensembl rs1600621391 19q13.2 19 41869112A> C null N T 11 11 missense 0.557 possibly damaging 0.01 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 Ensembl rs1568795314 19q13.2 19 41869114G> A null G S 12 12 missense 0.641 possibly damaging 0.02 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,TOPMed,gnomAD rs782752734 19q13.2 19 41869117G> A null V I 13 13 missense 0.063 benign 0.12 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,gnomAD rs74678920 19q13.2 19 41869122G> C null M I 14 14 missense 0.0 benign 0.28 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 Ensembl rs1600621431 19q13.2 19 41869121T> G null M R 14 14 missense 0.0 benign 1.0 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 gnomAD rs1555841342 19q13.2 19 41869129C> T null H Y 17 17 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 gnomAD rs1555841343 19q13.2 19 41869133T> A null F Y 18 18 missense 0.052 benign 0.13 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 TOPMed,gnomAD rs1253528744 19q13.2 19 41869136G> C null S T 19 19 missense 0.098 benign 0.11 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 dbSNP,gnomAD rs61762293 [ClinVar]: Diamond-Blackfan anemia 1 pubmed:9988267 19q13.2 19 41869138C> T null R * 20 20 missense 0 Diamond-Blackfan anemia 1 (DBA1) Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. MIM:105650 pubmed:20301769,ClinVar:RCV000033182 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,gnomAD rs781883244 19q13.2 19 41869139G> A null R Q 20 20 missense 0.509 possibly damaging 0.13 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 gnomAD rs1555841352 19q13.2 19 41869141G> A null G S 21 21 missense 0.048 benign 0.63 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 gnomAD rs1555841355 19q13.2 19 41869151G> A null S N 24 24 missense 0.026 benign 0.15 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 Ensembl rs200311629 19q13.2 19 41869152T> A null S R 24 24 missense 0.649 possibly damaging 0.0 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,gnomAD rs782627671 19q13.2 19 41869159C> T null R C 27 27 missense 0.24 benign 0.04 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,TOPMed,gnomAD rs782345448 19q13.2 19 41869163G> A null R Q 28 28 missense 0.006 benign 0.15 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 Ensembl rs1131691437 19q13.2 19 41869166T> A null V D 29 29 missense 0.721 possibly damaging 0.0 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 Ensembl rs1131691437 19q13.2 19 41869166T> G null V G 29 29 missense 0.028 benign 0.0 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,TOPMed,gnomAD rs782623451 19q13.2 19 41869172A> G null Q R 31 31 missense 0.483 possibly damaging 0.02 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 1000Genomes,ExAC,gnomAD rs559197158 19q13.2 19 41869174G> A null A T 32 32 0.0002 missense 0.34 benign 0.13 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 Ensembl rs1600621653 19q13.2 19 41869196T> G null V G 39 39 missense 0.853 possibly damaging 0.0 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 gnomAD rs1555841377 19q13.2 19 41869205A> G null D G 42 42 missense 0.049 benign 0.04 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 Ensembl rs1600621677 19q13.2 19 41869207C> G null Q E 43 43 missense 0.003 benign 0.28 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,gnomAD rs782118495 19q13.2 19 41869212T> A null D E 44 44 missense 0.021 benign 0.3 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 gnomAD rs1555841561 19q13.2 19 41869703C> T null R C 47 47 missense 0.302 benign 0.07 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,TOPMed,gnomAD rs782437157 19q13.2 19 41869707A> G null K R 48 48 missense 0.012 benign 0.72 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 TOPMed rs1288261333 19q13.2 19 41869716C> T null P L 51 51 missense 0.155 benign 0.11 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,TOPMed,gnomAD rs781898903 19q13.2 19 41869715C> A null P T 51 51 missense 0.024 benign 0.24 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 gnomAD rs1555841573 19q13.2 19 41869719A> T null Q L 52 52 missense 0.078 benign 0.02 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 gnomAD rs1555841573 19q13.2 19 41869719A> G null Q R 52 52 missense 0.078 benign 0.04 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 Ensembl,dbSNP rs1060503688 [ClinVar]: Diamond-Blackfan anemia 19q13.2 19 41869724C> T null Q * 54 54 missense 0 Diamond-Blackfan anemia Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. MIM:PS105650 pubmed:20301769,ClinVar:RCV000462953 A0A075B6E2 RPS19 40S ribosomal protein S19 TOPMed rs1357733112 19q13.2 19 41869726A> C null Q H 54 54 missense 0.061 benign 0.02 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ESP,ExAC,dbSNP,gnomAD rs144337183 19q13.2 19 41869748G> T null G * 62 62 missense 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ESP,ExAC,gnomAD rs144337183 19q13.2 19 41869748G> A null G R 62 62 missense 0.047 benign 0.04 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,TOPMed,gnomAD rs782608155 19q13.2 19 41869752A> G null Q R 63 63 missense 0.955 probably damaging 0.16 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 gnomAD rs1555841995 19q13.2 19 41871351G> C null V L 64 64 missense 0.052 benign 0.1 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 gnomAD rs1555841997 19q13.2 19 41871367A> G null K R 69 69 missense 0.06 benign 0.22 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,gnomAD rs782383871 19q13.2 19 41871372C> T null H Y 71 71 missense 0.077 benign 0.0 deleterious - low confidence 0 A0A075B6E2 RPS19 40S ribosomal protein S19 Ensembl,dbSNP rs786200936 [UniProt]: DBA1; affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit 19q13.2 19 41869722G> A null G E 127 127 missense 0 Diamond-Blackfan anemia 1 (DBA1) A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. MIM:105650 pubmed:10590074,pubmed:11112378,pubmed:12586610,pubmed:12750732,pubmed:15384984,pubmed:17517689,pubmed:18412286,pubmed:9988267,pubmed:Ref.26 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1359670387 3p25.2 3 11703028T> C null T A 3 3 missense 0.88 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,TOPMed,gnomAD rs376550793 cosmic curated [Cosmic]: prostate, [Cosmic]: oesophagus pubmed:23525077,cosmic_study:435,cosmic_study:464 3p25.2 3 11703027G> A null T M 3 3 missense 0.987 probably damaging 0.0 deleterious - low confidence 1 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs776106266 3p25.2 3 11703009G> C null S C 9 9 missense 0.952 probably damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs776106266 3p25.2 3 11703009G> A null S F 9 9 missense 0.908 possibly damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs768321759 3p25.2 3 11702997G> T null S Y 13 13 missense 0.851 possibly damaging 0.08 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1193445045 3p25.2 3 11702989G> C null H D 16 16 missense 0.844 possibly damaging 0.06 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs746283007 3p25.2 3 11702985G> T null A D 17 17 missense 0.885 possibly damaging 0.24 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,TOPMed,gnomAD rs368803680 3p25.2 3 11702978G> T null D E 19 19 missense 0.429 benign 0.74 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1490664912 3p25.2 3 11702977C> T null E K 20 20 missense 0.043 benign 0.36 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs777919793 3p25.2 3 11702974T> C null K E 21 21 missense 0.024 benign 1.0 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs752998676 cosmic curated [Cosmic]: large_intestine cosmic_study:376 3p25.2 3 11702971G> A null R C 22 22 missense 0.924 probably damaging 0.01 deleterious 1 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs752998676 3p25.2 3 11702971G> T null R S 22 22 missense 0.055 benign 0.27 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs748118489 3p25.2 3 11602020C> T null E K 23 23 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs781144877 3p25.2 3 11602017C> G null A P 24 24 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs781144877 3p25.2 3 11602017C> T null A T 24 24 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1403013107 3p25.2 3 11602013G> A null A V 25 25 missense 0.92 probably damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs754841204 3p25.2 3 11602010A> C null L R 26 26 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs779424526 3p25.2 3 11602004C> T null G E 28 28 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1344890444 3p25.2 3 11602005C> T null G R 28 28 missense 0.972 probably damaging 0.04 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1289271801 3p25.2 3 11602002C> T null E K 29 29 missense 0.911 probably damaging 0.02 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1208096405 3p25.2 3 11601999G> C null P A 30 30 missense 0.779 possibly damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs750018493 3p25.2 3 11601998G> A null P L 30 30 missense 0.945 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1208096405 3p25.2 3 11601999G> A null P S 30 30 missense 0.426 benign 0.24 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC rs778133331 3p25.2 3 11601992A> T null I K 32 32 missense 0.187 benign 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2276749 3p25.2 3 11601991T> C null I M 32 32 0.07049 missense 0.007 benign 0.92 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 Ensembl rs1575439746 3p25.2 3 11601986G> T null T N 34 34 missense 0.462 possibly damaging 0.02 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs751730160 3p25.2 3 11601980G> A null P L 36 36 missense 0.863 possibly damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs751730160 3p25.2 3 11601980G> T null P Q 36 36 missense 0.502 possibly damaging 0.04 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1268135283 3p25.2 3 11601981G> T null P T 36 36 missense 0.856 possibly damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs763282298 3p25.2 3 11601978C> T null V M 37 37 missense 0.596 possibly damaging 0.17 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs769746896 3p25.2 3 11601974G> T null A D 38 38 missense 0.586 possibly damaging 0.1 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs776270476 3p25.2 3 11601956T> A null H L 44 44 missense 0.948 probably damaging 0.04 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144647597 3p25.2 3 11601954G> A null R C 45 45 0.0002 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs779626554 3p25.2 3 11601953C> T null R H 45 45 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs779626554 3p25.2 3 11601953C> A null R L 45 45 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,TOPMed,gnomAD rs376396362 3p25.2 3 11601951T> C null T A 46 46 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs745550697 3p25.2 3 11601950G> C null T S 46 46 missense 0.999 probably damaging 0.05 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1364806914 3p25.2 3 11601948C> T null G S 47 47 missense 0.956 probably damaging 0.06 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1258716857 3p25.2 3 11601945G> T null P T 48 48 missense 1.0 probably damaging 0.05 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs753162290 3p25.2 3 11601941G> A null P L 49 49 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs753162290 3p25.2 3 11601941G> C null P R 49 49 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,TOPMed,gnomAD rs148585381 3p25.2 3 11601942G> A null P S 49 49 missense 0.996 probably damaging 0.1 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 Ensembl rs1559892389 3p25.2 3 11601939G> C null P A 50 50 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1270656099 3p25.2 3 11601938G> A null P L 50 50 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147530873 3p25.2 3 11601936T> C null I V 51 51 0.000998 missense 0.024 benign 0.4 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs755514754 3p25.2 3 11601932C> G null S T 52 52 missense 0.664 possibly damaging 0.09 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs750503637 3p25.2 3 11601929G> A null P L 53 53 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs763090675 3p25.2 3 11601930G> A null P S 53 53 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs763090675 3p25.2 3 11601930G> T null P T 53 53 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs762116536 3p25.2 3 11601912T> C null S G 59 59 missense 0.028 benign 0.37 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs762116536 3p25.2 3 11601912T> G null S R 59 59 missense 0.867 possibly damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs776487590 3p25.2 3 11601911C> G null S T 59 59 missense 0.046 benign 0.1 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 Ensembl rs781468006 3p25.2 3 11601909T> G null M L 60 60 missense 0.001 benign 0.32 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1307432360 3p25.2 3 11601903G> T null P T 62 62 missense 0.258 benign 0.07 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,TOPMed,gnomAD rs367900736 3p25.2 3 11601895G> C null D E 64 64 missense 0.045 benign 0.21 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,TOPMed,gnomAD rs367900736 3p25.2 3 11601895G> T null D E 64 64 missense 0.045 benign 0.21 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs77883256 cosmic curated [Cosmic]: large_intestine cosmic_study:376 3p25.2 3 11601894C> T null E K 65 65 0.000399 missense 0.007 benign 0.08 tolerated 1 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs77883256 3p25.2 3 11601894C> G null E Q 65 65 0.000399 missense 0.389 benign 0.18 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,TOPMed,gnomAD rs141754738 3p25.2 3 11601889G> T null D E 66 66 missense 0.015 benign 0.63 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs781630897 3p25.2 3 11601882A> G null C R 69 69 missense 0.94 probably damaging 0.02 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs747583213 3p25.2 3 11601878T> G null D A 70 70 missense 0.138 benign 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs934878024 3p25.2 3 11601868G> T null H Q 73 73 missense 0.82 possibly damaging 0.07 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs758954709 3p25.2 3 11601869T> C null H R 73 73 missense 0.073 benign 0.07 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1053780706 3p25.2 3 11601870G> A null H Y 73 73 missense 0.907 possibly damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs568310981 3p25.2 3 11601867C> A null V F 74 74 0.0002 missense 0.706 possibly damaging 0.02 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs568310981 3p25.2 3 11601867C> T null V I 74 74 0.0002 missense 0.012 benign 0.26 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ExAC,gnomAD rs189985865 3p25.2 3 11601852G> A null R C 79 79 missense 0.993 probably damaging 0.04 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs757511716 cosmic curated [Cosmic]: endometrium cosmic_study:419 3p25.2 3 11601851C> T null R H 79 79 missense 0.993 probably damaging 0.0 deleterious 1 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs757511716 3p25.2 3 11601851C> A null R L 79 79 missense 0.985 probably damaging 0.0 deleterious 0