Mutation | AA change | Consequence type | BoostDM score | IntOGen frequency |
---|---|---|---|---|
17:7674220:T | R248Q | missense_variant | 1.00 | 6 |
17:7673802:T | R273H | missense_variant | 1.00 | 3 |
17:7674241:T | S241Y | missense_variant | 1.00 | 3 |
17:7675076:C | H179R | missense_variant | 1.00 | 2 |
17:7675088:T | R175H | missense_variant | 1.00 | 2 |
17:7674953:C | H193R | missense_variant | 1.00 | 2 |
17:7673781:G | R280T | missense_variant | 1.00 | 1 |
17:7673779:T | D281N | missense_variant | 1.00 | 1 |
17:7673803:A | R273C | missense_variant | 1.00 | 1 |
17:7674250:T | C238Y | missense_variant | 1.00 | 1 |
17:7674232:T | G244D | missense_variant | 1.00 | 1 |
17:7674229:T | G245D | missense_variant | 1.00 | 1 |
17:7674247:C | N239S | missense_variant | 1.00 | 1 |
17:7675077:C | H179D | missense_variant | 1.00 | 1 |
17:7674918:T | Y205N | missense_variant | 1.00 | 1 |
17:7674251:G | C238R | missense_variant | 1.00 | 1 |
17:7674239:T | C242S | missense_variant | 1.00 | 1 |
17:7674885:A | V216L | missense_variant | 1.00 | 1 |
17:7674947:G | I195T | missense_variant | 1.00 | 1 |
17:7674954:A | H193Y | missense_variant | 1.00 | 1 |
17:7674234:A | M243I | missense_variant | 0.99 | 1 |
17:7674221:A | R248W | missense_variant | 0.98 | 1 |
17:7674216:A | R249S | missense_variant | 0.97 | 1 |
17:7675216:A | K132N | missense_variant | 0.89 | 1 |
17:7675161:A | P151S | missense_variant | 0.87 | 1 |
17:7673823:A | G266V | missense_variant | 0.85 | 1 |
17:7675160:C | P151R | missense_variant | 0.84 | 1 |
17:7675125:G | Y163H | missense_variant | 0.83 | 1 |
17:7674872:G | Y220S | missense_variant | 0.72 | 1 |
17:7670664:A | E349* | stop_gained | 0.68 | 1 |
17:7675076:G | H179P | missense_variant | 1.00 | 0 |
17:7675076:A | H179L | missense_variant | 1.00 | 0 |
17:7675088:G | R175P | missense_variant | 1.00 | 0 |
17:7675088:A | R175L | missense_variant | 1.00 | 0 |
17:7674220:G | R248P | missense_variant | 1.00 | 0 |
17:7674220:A | R248L | missense_variant | 1.00 | 0 |
17:7673781:T | R280K | missense_variant | 1.00 | 0 |
17:7673802:A | R273L | missense_variant | 1.00 | 0 |
17:7673779:A | D281Y | missense_variant | 1.00 | 0 |
17:7673779:G | D281H | missense_variant | 1.00 | 0 |
17:7673802:G | R273P | missense_variant | 1.00 | 0 |
17:7673781:A | R280I | missense_variant | 1.00 | 0 |
17:7673803:C | R273G | missense_variant | 1.00 | 0 |
17:7673803:T | R273S | missense_variant | 1.00 | 0 |
17:7674250:A | C238F | missense_variant | 1.00 | 0 |
17:7674250:G | C238S | missense_variant | 1.00 | 0 |
17:7674230:G | G245R | missense_variant | 1.00 | 0 |
17:7674238:T | C242Y | missense_variant | 1.00 | 0 |
17:7674238:G | C242S | missense_variant | 1.00 | 0 |
17:7674238:A | C242F | missense_variant | 1.00 | 0 |
17:7674233:T | G244S | missense_variant | 1.00 | 0 |
17:7674233:G | G244R | missense_variant | 1.00 | 0 |
17:7674233:A | G244C | missense_variant | 1.00 | 0 |
17:7674232:G | G244A | missense_variant | 1.00 | 0 |
17:7674232:A | G244V | missense_variant | 1.00 | 0 |
17:7674230:T | G245S | missense_variant | 1.00 | 0 |
17:7674230:A | G245C | missense_variant | 1.00 | 0 |
17:7674229:G | G245A | missense_variant | 1.00 | 0 |
17:7674229:A | G245V | missense_variant | 1.00 | 0 |
17:7674217:T | R249K | missense_variant | 1.00 | 0 |
17:7674217:A | R249M | missense_variant | 1.00 | 0 |
17:7674217:G | R249T | missense_variant | 1.00 | 0 |
17:7674248:G | N239H | missense_variant | 1.00 | 0 |
17:7674247:A | N239I | missense_variant | 1.00 | 0 |
17:7674247:G | N239T | missense_variant | 1.00 | 0 |
17:7674248:A | N239Y | missense_variant | 1.00 | 0 |
17:7674248:C | N239D | missense_variant | 1.00 | 0 |
17:7673778:C | D281G | missense_variant | 1.00 | 0 |
17:7673778:A | D281V | missense_variant | 1.00 | 0 |
17:7673778:G | D281A | missense_variant | 1.00 | 0 |
17:7675077:A | H179Y | missense_variant | 1.00 | 0 |
17:7675077:T | H179N | missense_variant | 1.00 | 0 |
17:7674918:G | Y205H | missense_variant | 1.00 | 0 |
17:7674918:C | Y205D | missense_variant | 1.00 | 0 |
17:7674251:T | C238S | missense_variant | 1.00 | 0 |
17:7674251:C | C238G | missense_variant | 1.00 | 0 |
17:7674239:C | C242G | missense_variant | 1.00 | 0 |
17:7674235:C | M243R | missense_variant | 1.00 | 0 |
17:7674239:G | C242R | missense_variant | 1.00 | 0 |
17:7674235:T | M243K | missense_variant | 1.00 | 0 |
17:7674235:G | M243T | missense_variant | 1.00 | 0 |
17:7674885:T | V216M | missense_variant | 1.00 | 0 |
17:7674885:G | V216L | missense_variant | 1.00 | 0 |
17:7674917:G | Y205S | missense_variant | 1.00 | 0 |
17:7674917:C | Y205C | missense_variant | 1.00 | 0 |
17:7674917:A | Y205F | missense_variant | 1.00 | 0 |
17:7674884:G | V216A | missense_variant | 1.00 | 0 |
17:7674884:C | V216G | missense_variant | 1.00 | 0 |
17:7674884:T | V216E | missense_variant | 1.00 | 0 |
17:7674246:C | N239K | missense_variant | 1.00 | 0 |
17:7674246:T | N239K | missense_variant | 1.00 | 0 |
17:7675089:T | R175S | missense_variant | 1.00 | 0 |
17:7675089:C | R175G | missense_variant | 1.00 | 0 |
17:7675089:A | R175C | missense_variant | 1.00 | 0 |
17:7674953:A | H193L | missense_variant | 1.00 | 0 |
17:7674948:A | I195F | missense_variant | 1.00 | 0 |
17:7674948:C | I195V | missense_variant | 1.00 | 0 |
17:7674948:G | I195L | missense_variant | 1.00 | 0 |
17:7674953:G | H193P | missense_variant | 1.00 | 0 |
17:7674954:C | H193D | missense_variant | 1.00 | 0 |
17:7674954:T | H193N | missense_variant | 1.00 | 0 |
17:7674947:C | I195S | missense_variant | 1.00 | 0 |
17:7674947:T | I195N | missense_variant | 1.00 | 0 |
17:7674946:C | I195M | missense_variant | 1.00 | 0 |
17:7674241:A | S241F | missense_variant | 1.00 | 0 |
17:7674241:C | S241C | missense_variant | 1.00 | 0 |
17:7674237:T | C242* | stop_gained | 0.99 | 0 |
17:7674234:G | M243I | missense_variant | 0.99 | 0 |
17:7674234:T | M243I | missense_variant | 0.99 | 0 |
17:7673777:T | D281E | missense_variant | 0.99 | 0 |
17:7673777:C | D281E | missense_variant | 0.99 | 0 |
17:7674237:C | C242W | missense_variant | 0.99 | 0 |
17:7675218:A | K132* | stop_gained | 0.99 | 0 |
17:7674242:T | S241T | missense_variant | 0.99 | 0 |
17:7674242:G | S241P | missense_variant | 0.99 | 0 |
17:7674242:C | S241A | missense_variant | 0.99 | 0 |
17:7673782:A | R280* | stop_gained | 0.99 | 0 |
17:7673782:C | R280G | missense_variant | 0.99 | 0 |
17:7675217:A | K132M | missense_variant | 0.99 | 0 |
17:7675218:G | K132Q | missense_variant | 0.99 | 0 |
17:7675218:C | K132E | missense_variant | 0.99 | 0 |
17:7675217:G | K132T | missense_variant | 0.99 | 0 |
17:7675217:C | K132R | missense_variant | 0.99 | 0 |
17:7675119:A | Q165* | stop_gained | 0.98 | 0 |
17:7674221:C | R248G | missense_variant | 0.98 | 0 |
17:7675113:A | Q167* | stop_gained | 0.98 | 0 |
17:7673815:C | S269G | missense_variant | 0.97 | 0 |
17:7673815:A | S269C | missense_variant | 0.97 | 0 |
17:7673815:G | S269R | missense_variant | 0.97 | 0 |
17:7674249:T | C238* | stop_gained | 0.97 | 0 |
17:7674236:A | M243L | missense_variant | 0.97 | 0 |
17:7674236:C | M243V | missense_variant | 0.97 | 0 |
17:7674236:G | M243L | missense_variant | 0.97 | 0 |
17:7675119:T | Q165K | missense_variant | 0.97 | 0 |
17:7675119:C | Q165E | missense_variant | 0.97 | 0 |
17:7674249:C | C238W | missense_variant | 0.97 | 0 |
17:7675075:T | H179Q | missense_variant | 0.97 | 0 |
17:7675075:C | H179Q | missense_variant | 0.97 | 0 |
17:7674216:G | R249S | missense_variant | 0.97 | 0 |
17:7674218:A | R249W | missense_variant | 0.97 | 0 |
17:7674218:C | R249G | missense_variant | 0.97 | 0 |
17:7673780:A | R280S | missense_variant | 0.97 | 0 |
17:7673780:G | R280S | missense_variant | 0.97 | 0 |
17:7675113:T | Q167K | missense_variant | 0.97 | 0 |
17:7675113:C | Q167E | missense_variant | 0.97 | 0 |
17:7675115:C | S166* | stop_gained | 0.97 | 0 |
17:7675115:T | S166* | stop_gained | 0.97 | 0 |
17:7675103:C | T170R | missense_variant | 0.96 | 0 |
17:7675103:T | T170K | missense_variant | 0.96 | 0 |
17:7675103:A | T170M | missense_variant | 0.96 | 0 |
17:7675118:G | Q165P | missense_variant | 0.96 | 0 |
17:7675118:C | Q165R | missense_variant | 0.96 | 0 |
17:7675118:A | Q165L | missense_variant | 0.96 | 0 |
17:7675112:G | Q167P | missense_variant | 0.96 | 0 |
17:7675112:C | Q167R | missense_variant | 0.96 | 0 |
17:7675112:A | Q167L | missense_variant | 0.96 | 0 |
17:7674265:C | H233R | missense_variant | 0.96 | 0 |
17:7674265:A | H233L | missense_variant | 0.96 | 0 |
17:7674265:G | H233P | missense_variant | 0.96 | 0 |
17:7674272:A | T231S | missense_variant | 0.96 | 0 |
17:7674272:C | T231A | missense_variant | 0.96 | 0 |
17:7674272:G | T231P | missense_variant | 0.96 | 0 |
17:7674260:A | N235Y | missense_variant | 0.95 | 0 |
17:7674260:G | N235H | missense_variant | 0.95 | 0 |
17:7674260:C | N235D | missense_variant | 0.95 | 0 |
17:7674271:A | T231I | missense_variant | 0.95 | 0 |
17:7674271:C | T231S | missense_variant | 0.95 | 0 |
17:7674271:T | T231N | missense_variant | 0.95 | 0 |
17:7674859:T | E224E | splice_region_variant | 0.94 | 0 |
17:7674916:C | Y205* | stop_gained | 0.93 | 0 |
17:7674916:T | Y205* | stop_gained | 0.93 | 0 |
17:7673829:G | L264P | missense_variant | 0.93 | 0 |
17:7673829:T | L264Q | missense_variant | 0.93 | 0 |
17:7673829:C | L264R | missense_variant | 0.93 | 0 |
17:7675055:A | D186V | missense_variant | 0.93 | 0 |
17:7675055:G | D186A | missense_variant | 0.93 | 0 |
17:7675055:C | D186G | missense_variant | 0.93 | 0 |
17:7676028:T | L114* | stop_gained | 0.93 | 0 |
17:7674870:A | E221* | stop_gained | 0.92 | 0 |
17:7675115:A | S166L | missense_variant | 0.92 | 0 |
17:7674952:T | H193Q | missense_variant | 0.90 | 0 |
17:7674952:C | H193Q | missense_variant | 0.90 | 0 |
17:7674875:C | P219R | missense_variant | 0.90 | 0 |
17:7674875:A | P219L | missense_variant | 0.90 | 0 |
17:7674875:T | P219H | missense_variant | 0.90 | 0 |
17:7674876:A | P219S | missense_variant | 0.90 | 0 |
17:7674876:C | P219A | missense_variant | 0.90 | 0 |
17:7674876:T | P219T | missense_variant | 0.90 | 0 |
17:7675216:G | K132N | missense_variant | 0.89 | 0 |
17:7674939:A | E198* | stop_gained | 0.88 | 0 |
17:7676060:T | Y103* | stop_gained | 0.87 | 0 |
17:7676060:C | Y103* | stop_gained | 0.87 | 0 |
17:7675101:A | E171* | stop_gained | 0.87 | 0 |
17:7675161:C | P151A | missense_variant | 0.87 | 0 |
17:7675161:T | P151T | missense_variant | 0.87 | 0 |
17:7673824:A | G266* | stop_gained | 0.87 | 0 |
17:7673764:A | E286* | stop_gained | 0.87 | 0 |
17:7673809:A | E271* | stop_gained | 0.87 | 0 |
17:7673767:A | E285* | stop_gained | 0.87 | 0 |
17:7674861:A | E224* | stop_gained | 0.86 | 0 |
17:7674911:A | D207V | missense_variant | 0.86 | 0 |
17:7674911:G | D207A | missense_variant | 0.86 | 0 |
17:7674911:C | D207G | missense_variant | 0.86 | 0 |
17:7675085:G | C176S | missense_variant | 0.86 | 0 |
17:7675085:T | C176Y | missense_variant | 0.86 | 0 |
17:7675139:A | R158L | missense_variant | 0.86 | 0 |
17:7675101:G | E171Q | missense_variant | 0.86 | 0 |
17:7675095:T | V173M | missense_variant | 0.86 | 0 |
17:7675095:A | V173L | missense_variant | 0.86 | 0 |
17:7675139:T | R158H | missense_variant | 0.86 | 0 |
17:7675095:G | V173L | missense_variant | 0.86 | 0 |
17:7675101:T | E171K | missense_variant | 0.86 | 0 |
17:7675139:G | R158P | missense_variant | 0.86 | 0 |
17:7675085:A | C176F | missense_variant | 0.86 | 0 |
17:7673796:A | C275F | missense_variant | 0.85 | 0 |
17:7673764:G | E286Q | missense_variant | 0.85 | 0 |
17:7673796:T | C275Y | missense_variant | 0.85 | 0 |
17:7673824:G | G266R | missense_variant | 0.85 | 0 |
17:7673824:T | G266R | missense_variant | 0.85 | 0 |
17:7673767:G | E285Q | missense_variant | 0.85 | 0 |
17:7673796:G | C275S | missense_variant | 0.85 | 0 |
17:7673785:T | G279R | missense_variant | 0.85 | 0 |
17:7673785:G | G279R | missense_variant | 0.85 | 0 |
17:7673785:A | G279W | missense_variant | 0.85 | 0 |
17:7673809:G | E271Q | missense_variant | 0.85 | 0 |
17:7673809:T | E271K | missense_variant | 0.85 | 0 |
17:7673764:T | E286K | missense_variant | 0.85 | 0 |
17:7673820:A | R267L | missense_variant | 0.85 | 0 |
17:7673820:G | R267P | missense_variant | 0.85 | 0 |
17:7673820:T | R267Q | missense_variant | 0.85 | 0 |
17:7673823:G | G266A | missense_variant | 0.85 | 0 |
17:7673794:A | A276S | missense_variant | 0.85 | 0 |
17:7673794:G | A276P | missense_variant | 0.85 | 0 |
17:7673794:T | A276T | missense_variant | 0.85 | 0 |
17:7673823:T | G266E | missense_variant | 0.85 | 0 |
17:7673767:T | E285K | missense_variant | 0.85 | 0 |
17:7673769:C | T284R | missense_variant | 0.85 | 0 |
17:7673769:A | T284I | missense_variant | 0.85 | 0 |
17:7673769:T | T284K | missense_variant | 0.85 | 0 |
17:7675062:A | D184Y | missense_variant | 0.85 | 0 |
17:7675062:T | D184N | missense_variant | 0.85 | 0 |
17:7675062:G | D184H | missense_variant | 0.85 | 0 |
17:7675160:A | P151L | missense_variant | 0.84 | 0 |
17:7675160:T | P151H | missense_variant | 0.84 | 0 |
17:7675061:G | D184A | missense_variant | 0.84 | 0 |
17:7675061:C | D184G | missense_variant | 0.84 | 0 |
17:7675061:A | D184V | missense_variant | 0.84 | 0 |
17:7673763:A | E286V | missense_variant | 0.84 | 0 |
17:7673763:C | E286G | missense_variant | 0.84 | 0 |
17:7673763:G | E286A | missense_variant | 0.84 | 0 |
17:7675106:C | M169R | missense_variant | 0.84 | 0 |
17:7675106:G | M169T | missense_variant | 0.84 | 0 |
17:7675106:T | M169K | missense_variant | 0.84 | 0 |
17:7673811:G | F270S | missense_variant | 0.84 | 0 |
17:7673811:T | F270Y | missense_variant | 0.84 | 0 |
17:7673811:C | F270C | missense_variant | 0.84 | 0 |
17:7675136:T | A159D | missense_variant | 0.83 | 0 |
17:7675136:A | A159V | missense_variant | 0.83 | 0 |
17:7675136:C | A159G | missense_variant | 0.83 | 0 |
17:7675097:C | V172G | missense_variant | 0.83 | 0 |
17:7675127:G | I162T | missense_variant | 0.83 | 0 |
17:7675127:T | I162N | missense_variant | 0.83 | 0 |
17:7675130:A | A161V | missense_variant | 0.83 | 0 |
17:7675130:C | A161G | missense_variant | 0.83 | 0 |
17:7675130:T | A161D | missense_variant | 0.83 | 0 |
17:7675158:T | P152T | missense_variant | 0.83 | 0 |
17:7675094:T | V173E | missense_variant | 0.83 | 0 |
17:7675094:G | V173A | missense_variant | 0.83 | 0 |
17:7675094:C | V173G | missense_variant | 0.83 | 0 |
17:7675158:C | P152A | missense_variant | 0.83 | 0 |
17:7675158:A | P152S | missense_variant | 0.83 | 0 |
17:7675157:T | P152Q | missense_variant | 0.83 | 0 |
17:7675086:T | C176S | missense_variant | 0.83 | 0 |
17:7675086:G | C176R | missense_variant | 0.83 | 0 |
17:7675086:C | C176G | missense_variant | 0.83 | 0 |
17:7675083:T | P177T | missense_variant | 0.83 | 0 |
17:7675083:C | P177A | missense_variant | 0.83 | 0 |
17:7675083:A | P177S | missense_variant | 0.83 | 0 |
17:7675142:C | V157G | missense_variant | 0.83 | 0 |
17:7675157:C | P152R | missense_variant | 0.83 | 0 |
17:7675142:G | V157A | missense_variant | 0.83 | 0 |
17:7675082:T | P177H | missense_variant | 0.83 | 0 |
17:7675125:T | Y163N | missense_variant | 0.83 | 0 |
17:7675097:T | V172D | missense_variant | 0.83 | 0 |
17:7675097:G | V172A | missense_variant | 0.83 | 0 |
17:7675157:A | P152L | missense_variant | 0.83 | 0 |
17:7675127:C | I162S | missense_variant | 0.83 | 0 |
17:7675125:C | Y163D | missense_variant | 0.83 | 0 |
17:7675082:C | P177R | missense_variant | 0.83 | 0 |
17:7675082:A | P177L | missense_variant | 0.83 | 0 |
17:7675142:T | V157D | missense_variant | 0.83 | 0 |
17:7673784:G | G279A | missense_variant | 0.83 | 0 |
17:7673784:A | G279V | missense_variant | 0.83 | 0 |
17:7673784:T | G279E | missense_variant | 0.83 | 0 |
17:7673797:G | C275R | missense_variant | 0.83 | 0 |
17:7673787:A | P278L | missense_variant | 0.83 | 0 |
17:7673787:C | P278R | missense_variant | 0.83 | 0 |
17:7673787:T | P278H | missense_variant | 0.83 | 0 |
17:7673788:A | P278S | missense_variant | 0.83 | 0 |
17:7673788:C | P278A | missense_variant | 0.83 | 0 |
17:7673788:T | P278T | missense_variant | 0.83 | 0 |
17:7673791:C | C277G | missense_variant | 0.83 | 0 |
17:7673791:G | C277R | missense_variant | 0.83 | 0 |
17:7673791:T | C277S | missense_variant | 0.83 | 0 |
17:7673793:A | A276V | missense_variant | 0.83 | 0 |
17:7673793:C | A276G | missense_variant | 0.83 | 0 |
17:7673793:T | A276D | missense_variant | 0.83 | 0 |
17:7673797:C | C275G | missense_variant | 0.83 | 0 |
17:7673797:T | C275S | missense_variant | 0.83 | 0 |
17:7673799:C | V274G | missense_variant | 0.83 | 0 |
17:7673799:G | V274A | missense_variant | 0.83 | 0 |
17:7673799:T | V274D | missense_variant | 0.83 | 0 |
17:7673812:C | F270V | missense_variant | 0.83 | 0 |
17:7673812:G | F270L | missense_variant | 0.83 | 0 |
17:7673812:T | F270I | missense_variant | 0.83 | 0 |
17:7673826:C | L265R | missense_variant | 0.83 | 0 |
17:7673826:G | L265P | missense_variant | 0.83 | 0 |
17:7673826:T | L265Q | missense_variant | 0.83 | 0 |
17:7675079:A | H178L | missense_variant | 0.83 | 0 |
17:7675100:C | E171G | missense_variant | 0.83 | 0 |
17:7675100:G | E171A | missense_variant | 0.83 | 0 |
17:7675100:A | E171V | missense_variant | 0.83 | 0 |
17:7675073:A | E180V | missense_variant | 0.83 | 0 |
17:7675073:C | E180G | missense_variant | 0.83 | 0 |
17:7675073:G | E180A | missense_variant | 0.83 | 0 |
17:7675079:G | H178P | missense_variant | 0.83 | 0 |
17:7675079:C | H178R | missense_variant | 0.83 | 0 |
17:7675121:A | K164M | missense_variant | 0.83 | 0 |
17:7675122:G | K164Q | missense_variant | 0.83 | 0 |
17:7675121:C | K164R | missense_variant | 0.83 | 0 |
17:7675121:G | K164T | missense_variant | 0.83 | 0 |
17:7675122:C | K164E | missense_variant | 0.83 | 0 |
17:7673766:G | E285A | missense_variant | 0.82 | 0 |
17:7673766:C | E285G | missense_variant | 0.82 | 0 |
17:7673766:A | E285V | missense_variant | 0.82 | 0 |
17:7673808:G | E271A | missense_variant | 0.82 | 0 |
17:7673808:C | E271G | missense_variant | 0.82 | 0 |
17:7673808:A | E271V | missense_variant | 0.82 | 0 |
17:7675122:A | K164* | stop_gained | 0.82 | 0 |
17:7673806:T | V272M | missense_variant | 0.82 | 0 |
17:7673806:G | V272L | missense_variant | 0.82 | 0 |
17:7673806:A | V272L | missense_variant | 0.82 | 0 |
17:7674191:A | E258* | stop_gained | 0.81 | 0 |
17:7675071:C | R181G | missense_variant | 0.81 | 0 |
17:7675071:A | R181C | missense_variant | 0.81 | 0 |
17:7675071:T | R181S | missense_variant | 0.81 | 0 |
17:7674254:A | M237L | missense_variant | 0.81 | 0 |
17:7674254:G | M237L | missense_variant | 0.81 | 0 |
17:7674254:C | M237V | missense_variant | 0.81 | 0 |
17:7674274:C | T230S | missense_variant | 0.81 | 0 |
17:7674274:A | T230I | missense_variant | 0.81 | 0 |
17:7674274:T | T230N | missense_variant | 0.81 | 0 |
17:7673775:A | R282L | missense_variant | 0.81 | 0 |
17:7673775:T | R282Q | missense_variant | 0.81 | 0 |
17:7673775:G | R282P | missense_variant | 0.81 | 0 |
17:7674252:G | M237I | missense_variant | 0.81 | 0 |
17:7674252:A | M237I | missense_variant | 0.81 | 0 |
17:7674252:T | M237I | missense_variant | 0.81 | 0 |
17:7673760:A | E287V | missense_variant | 0.79 | 0 |
17:7673760:G | E287A | missense_variant | 0.79 | 0 |
17:7673760:C | E287G | missense_variant | 0.79 | 0 |
17:7673790:A | C277F | missense_variant | 0.79 | 0 |
17:7673790:G | C277S | missense_variant | 0.79 | 0 |
17:7673790:T | C277Y | missense_variant | 0.79 | 0 |
17:7674253:C | M237R | missense_variant | 0.79 | 0 |
17:7674253:T | M237K | missense_variant | 0.79 | 0 |
17:7674253:G | M237T | missense_variant | 0.79 | 0 |
17:7674268:T | I232N | missense_variant | 0.79 | 0 |
17:7674268:G | I232T | missense_variant | 0.79 | 0 |
17:7674268:C | I232S | missense_variant | 0.79 | 0 |
17:7674257:C | Y236D | missense_variant | 0.78 | 0 |
17:7674257:T | Y236N | missense_variant | 0.78 | 0 |
17:7674257:G | Y236H | missense_variant | 0.78 | 0 |
17:7675074:A | E180* | stop_gained | 0.78 | 0 |
17:7674259:A | N235I | missense_variant | 0.77 | 0 |
17:7674259:G | N235T | missense_variant | 0.77 | 0 |
17:7674259:C | N235S | missense_variant | 0.77 | 0 |
17:7673835:A | G262V | missense_variant | 0.77 | 0 |
17:7673835:T | G262D | missense_variant | 0.77 | 0 |
17:7673835:G | G262A | missense_variant | 0.77 | 0 |
17:7674191:G | E258Q | missense_variant | 0.77 | 0 |
17:7673836:A | G262C | missense_variant | 0.77 | 0 |
17:7673836:G | G262R | missense_variant | 0.77 | 0 |
17:7673836:T | G262S | missense_variant | 0.77 | 0 |
17:7674191:T | E258K | missense_variant | 0.77 | 0 |
17:7673748:A | K291M | missense_variant | 0.76 | 0 |
17:7673748:C | K291R | missense_variant | 0.76 | 0 |
17:7673748:G | K291T | missense_variant | 0.76 | 0 |
17:7674225:A | M246I | missense_variant | 0.75 | 0 |
17:7674225:T | M246I | missense_variant | 0.75 | 0 |
17:7674225:G | M246I | missense_variant | 0.75 | 0 |
17:7675109:C | H168R | missense_variant | 0.74 | 0 |
17:7675109:G | H168P | missense_variant | 0.74 | 0 |
17:7675109:A | H168L | missense_variant | 0.74 | 0 |
17:7675124:A | Y163F | missense_variant | 0.74 | 0 |
17:7675124:G | Y163S | missense_variant | 0.74 | 0 |
17:7675124:C | Y163C | missense_variant | 0.74 | 0 |
17:7674190:G | E258A | missense_variant | 0.74 | 0 |
17:7674190:A | E258V | missense_variant | 0.74 | 0 |
17:7674190:C | E258G | missense_variant | 0.74 | 0 |
17:7673761:A | E287* | stop_gained | 0.73 | 0 |
17:7674859:G | E224D | missense_variant | 0.73 | 0 |
17:7674859:A | E224D | missense_variant | 0.73 | 0 |
17:7674872:A | Y220F | missense_variant | 0.72 | 0 |
17:7674872:C | Y220C | missense_variant | 0.72 | 0 |
17:7676016:A | T118I | missense_variant | 0.72 | 0 |
17:7676016:T | T118K | missense_variant | 0.72 | 0 |
17:7676016:C | T118R | missense_variant | 0.72 | 0 |
17:7674870:G | E221Q | missense_variant | 0.72 | 0 |
17:7674870:T | E221K | missense_variant | 0.72 | 0 |
17:7676023:T | S116T | missense_variant | 0.71 | 0 |
17:7676023:G | S116P | missense_variant | 0.71 | 0 |
17:7676023:C | S116A | missense_variant | 0.71 | 0 |
17:7674197:C | T256A | missense_variant | 0.71 | 0 |
17:7674197:A | T256S | missense_variant | 0.71 | 0 |
17:7674197:G | T256P | missense_variant | 0.71 | 0 |
17:7674287:G | G226R | missense_variant | 0.71 | 0 |
17:7674287:A | G226C | missense_variant | 0.71 | 0 |
17:7674287:T | G226S | missense_variant | 0.71 | 0 |
17:7674226:G | M246T | missense_variant | 0.71 | 0 |
17:7674226:C | M246R | missense_variant | 0.71 | 0 |
17:7674226:T | M246K | missense_variant | 0.71 | 0 |
17:7674227:A | M246L | missense_variant | 0.70 | 0 |
17:7674223:A | N247I | missense_variant | 0.70 | 0 |
17:7674227:G | M246L | missense_variant | 0.70 | 0 |
17:7674223:C | N247S | missense_variant | 0.70 | 0 |
17:7674223:G | N247T | missense_variant | 0.70 | 0 |
17:7674224:C | N247D | missense_variant | 0.70 | 0 |
17:7674224:A | N247Y | missense_variant | 0.70 | 0 |
17:7674224:G | N247H | missense_variant | 0.70 | 0 |
17:7674227:C | M246V | missense_variant | 0.70 | 0 |
17:7673833:G | N263H | missense_variant | 0.70 | 0 |
17:7673833:C | N263D | missense_variant | 0.70 | 0 |
17:7673833:A | N263Y | missense_variant | 0.70 | 0 |
17:7674215:T | P250T | missense_variant | 0.70 | 0 |
17:7674215:C | P250A | missense_variant | 0.70 | 0 |
17:7674215:A | P250S | missense_variant | 0.70 | 0 |
17:7674214:T | P250H | missense_variant | 0.70 | 0 |
17:7674214:A | P250L | missense_variant | 0.70 | 0 |
17:7674214:C | P250R | missense_variant | 0.70 | 0 |
17:7674212:A | I251F | missense_variant | 0.69 | 0 |
17:7674212:G | I251L | missense_variant | 0.69 | 0 |
17:7674212:C | I251V | missense_variant | 0.69 | 0 |
17:7676088:C | S94* | stop_gained | 0.69 | 0 |
17:7676088:T | S94* | stop_gained | 0.69 | 0 |
17:7676028:G | L114S | missense_variant | 0.69 | 0 |
17:7676028:C | L114W | missense_variant | 0.69 | 0 |
17:7674909:G | D208H | missense_variant | 0.69 | 0 |
17:7674909:T | D208N | missense_variant | 0.69 | 0 |
17:7674909:A | D208Y | missense_variant | 0.69 | 0 |
17:7676079:T | V97D | missense_variant | 0.68 | 0 |
17:7676079:C | V97G | missense_variant | 0.68 | 0 |
17:7676079:G | V97A | missense_variant | 0.68 | 0 |
17:7676549:A | Q16* | stop_gained | 0.68 | 0 |
17:7674939:G | E198Q | missense_variant | 0.68 | 0 |
17:7674939:T | E198K | missense_variant | 0.68 | 0 |
17:7674893:T | R213Q | missense_variant | 0.68 | 0 |
17:7674893:G | R213P | missense_variant | 0.68 | 0 |
17:7674893:A | R213L | missense_variant | 0.68 | 0 |
17:7674208:G | L252P | missense_variant | 0.68 | 0 |
17:7674208:C | L252R | missense_variant | 0.68 | 0 |
17:7674208:T | L252H | missense_variant | 0.68 | 0 |
17:7674281:T | D228N | missense_variant | 0.68 | 0 |
17:7674281:A | D228Y | missense_variant | 0.68 | 0 |
17:7674281:G | D228H | missense_variant | 0.68 | 0 |
17:7676062:T | Y103N | missense_variant | 0.67 | 0 |
17:7676062:G | Y103H | missense_variant | 0.67 | 0 |
17:7676062:C | Y103D | missense_variant | 0.67 | 0 |
17:7674888:G | S215R | missense_variant | 0.67 | 0 |
17:7674888:C | S215G | missense_variant | 0.67 | 0 |
17:7674888:A | S215C | missense_variant | 0.67 | 0 |
17:7674887:T | S215N | missense_variant | 0.67 | 0 |
17:7674887:A | S215I | missense_variant | 0.67 | 0 |
17:7674887:G | S215T | missense_variant | 0.67 | 0 |
17:7676017:C | T118A | missense_variant | 0.67 | 0 |
17:7676002:A | T123S | missense_variant | 0.67 | 0 |
17:7676002:C | T123A | missense_variant | 0.67 | 0 |
17:7676002:G | T123P | missense_variant | 0.67 | 0 |
17:7676017:A | T118S | missense_variant | 0.67 | 0 |
17:7676017:G | T118P | missense_variant | 0.67 | 0 |
17:7676061:A | Y103F | missense_variant | 0.67 | 0 |
17:7676061:C | Y103C | missense_variant | 0.67 | 0 |
17:7676061:G | Y103S | missense_variant | 0.67 | 0 |
17:7674959:T | P191H | missense_variant | 0.67 | 0 |
17:7674959:A | P191L | missense_variant | 0.67 | 0 |
17:7674959:C | P191R | missense_variant | 0.67 | 0 |
17:7676019:G | G117A | missense_variant | 0.66 | 0 |
17:7676019:T | G117E | missense_variant | 0.66 | 0 |
17:7676019:A | G117V | missense_variant | 0.66 | 0 |
17:7675098:G | V172L | missense_variant | 0.66 | 0 |
17:7675098:T | V172I | missense_variant | 0.66 | 0 |
17:7675098:A | V172F | missense_variant | 0.66 | 0 |
17:7675137:A | A159S | missense_variant | 0.66 | 0 |
17:7675137:G | A159P | missense_variant | 0.66 | 0 |
17:7675137:T | A159T | missense_variant | 0.66 | 0 |
17:7675074:G | E180Q | missense_variant | 0.66 | 0 |
17:7675074:T | E180K | missense_variant | 0.66 | 0 |
17:7676077:T | P98T | missense_variant | 0.65 | 0 |
17:7676076:T | P98H | missense_variant | 0.65 | 0 |
17:7676076:C | P98R | missense_variant | 0.65 | 0 |
17:7676076:A | P98L | missense_variant | 0.65 | 0 |
17:7676077:A | P98S | missense_variant | 0.65 | 0 |
17:7676077:C | P98A | missense_variant | 0.65 | 0 |
17:7674914:T | L206* | stop_gained | 0.65 | 0 |
17:7674211:T | I251N | missense_variant | 0.64 | 0 |
17:7674211:G | I251T | missense_variant | 0.64 | 0 |
17:7674211:C | I251S | missense_variant | 0.64 | 0 |
17:7674202:G | I254T | missense_variant | 0.64 | 0 |
17:7674196:A | T256I | missense_variant | 0.64 | 0 |
17:7674196:C | T256R | missense_variant | 0.64 | 0 |
17:7674196:T | T256K | missense_variant | 0.64 | 0 |
17:7674199:C | I255S | missense_variant | 0.64 | 0 |
17:7674199:G | I255T | missense_variant | 0.64 | 0 |
17:7674193:T | L257Q | missense_variant | 0.64 | 0 |
17:7674193:G | L257P | missense_variant | 0.64 | 0 |
17:7674193:C | L257R | missense_variant | 0.64 | 0 |
17:7674202:T | I254N | missense_variant | 0.64 | 0 |
17:7674202:C | I254S | missense_variant | 0.64 | 0 |
17:7674199:T | I255N | missense_variant | 0.64 | 0 |
17:7674899:C | T211S | missense_variant | 0.64 | 0 |
17:7674899:A | T211I | missense_variant | 0.64 | 0 |
17:7674899:T | T211N | missense_variant | 0.64 | 0 |
17:7675145:T | R156H | missense_variant | 0.64 | 0 |
17:7675145:A | R156L | missense_variant | 0.64 | 0 |
17:7675145:G | R156P | missense_variant | 0.64 | 0 |
17:7674280:G | D228A | missense_variant | 0.64 | 0 |
17:7674280:A | D228V | missense_variant | 0.64 | 0 |
17:7674280:C | D228G | missense_variant | 0.64 | 0 |
17:7674203:G | I254L | missense_variant | 0.64 | 0 |
17:7674203:A | I254F | missense_variant | 0.64 | 0 |
17:7674203:C | I254V | missense_variant | 0.64 | 0 |
17:7673773:T | R283S | missense_variant | 0.64 | 0 |
17:7673773:A | R283C | missense_variant | 0.64 | 0 |
17:7673773:C | R283G | missense_variant | 0.64 | 0 |
17:7674873:G | Y220H | missense_variant | 0.64 | 0 |
17:7674873:C | Y220D | missense_variant | 0.64 | 0 |
17:7674873:T | Y220N | missense_variant | 0.64 | 0 |
17:7674900:G | T211P | missense_variant | 0.63 | 0 |
17:7674900:A | T211S | missense_variant | 0.63 | 0 |
17:7674900:C | T211A | missense_variant | 0.63 | 0 |
17:7674908:A | D208V | missense_variant | 0.63 | 0 |
17:7674908:C | D208G | missense_variant | 0.63 | 0 |
17:7674908:G | D208A | missense_variant | 0.63 | 0 |
17:7674891:T | H214N | missense_variant | 0.63 | 0 |
17:7674878:G | V218A | missense_variant | 0.63 | 0 |
17:7674878:C | V218G | missense_variant | 0.63 | 0 |
17:7674878:T | V218E | missense_variant | 0.63 | 0 |
17:7674891:C | H214D | missense_variant | 0.63 | 0 |
17:7674891:A | H214Y | missense_variant | 0.63 | 0 |
17:7674890:G | H214P | missense_variant | 0.62 | 0 |
17:7674890:C | H214R | missense_variant | 0.62 | 0 |
17:7674890:A | H214L | missense_variant | 0.62 | 0 |
17:7674861:T | E224K | missense_variant | 0.62 | 0 |
17:7674861:G | E224Q | missense_variant | 0.62 | 0 |
17:7674860:C | E224G | missense_variant | 0.61 | 0 |
17:7674938:G | E198A | missense_variant | 0.61 | 0 |
17:7674938:C | E198G | missense_variant | 0.61 | 0 |
17:7674938:A | E198V | missense_variant | 0.61 | 0 |
17:7674933:G | N200H | missense_variant | 0.61 | 0 |
17:7674933:C | N200D | missense_variant | 0.61 | 0 |
17:7674933:A | N200Y | missense_variant | 0.61 | 0 |
17:7674283:A | S227F | missense_variant | 0.61 | 0 |
17:7674283:C | S227C | missense_variant | 0.61 | 0 |
17:7674283:T | S227Y | missense_variant | 0.61 | 0 |
17:7674860:A | E224V | missense_variant | 0.61 | 0 |
17:7674860:G | E224A | missense_variant | 0.61 | 0 |
17:7674965:T | A189D | missense_variant | 0.61 | 0 |
17:7674965:C | A189G | missense_variant | 0.61 | 0 |
17:7674965:A | A189V | missense_variant | 0.61 | 0 |
17:7675193:C | T140S | missense_variant | 0.60 | 0 |
17:7675193:A | T140I | missense_variant | 0.60 | 0 |
17:7675193:T | T140N | missense_variant | 0.60 | 0 |
17:7675182:A | Q144* | stop_gained | 0.60 | 0 |
17:7674275:G | T230P | missense_variant | 0.59 | 0 |
17:7674275:A | T230S | missense_variant | 0.59 | 0 |
17:7674275:C | T230A | missense_variant | 0.59 | 0 |
17:7674951:C | L194V | missense_variant | 0.58 | 0 |
17:7674951:A | L194F | missense_variant | 0.58 | 0 |
17:7674951:T | L194I | missense_variant | 0.58 | 0 |
17:7674263:C | Y234D | missense_variant | 0.57 | 0 |
17:7674263:G | Y234H | missense_variant | 0.57 | 0 |
17:7674263:T | Y234N | missense_variant | 0.57 | 0 |
17:7674950:C | L194R | missense_variant | 0.57 | 0 |
17:7674950:G | L194P | missense_variant | 0.57 | 0 |
17:7674950:T | L194H | missense_variant | 0.57 | 0 |
17:7673761:G | E287Q | missense_variant | 0.57 | 0 |
17:7673761:T | E287K | missense_variant | 0.57 | 0 |
17:7674289:C | V225G | missense_variant | 0.56 | 0 |
17:7674289:G | V225A | missense_variant | 0.56 | 0 |
17:7674289:T | V225D | missense_variant | 0.56 | 0 |
17:7674286:T | G226D | missense_variant | 0.55 | 0 |
17:7674286:A | G226V | missense_variant | 0.55 | 0 |
17:7674286:G | G226A | missense_variant | 0.55 | 0 |
17:7676001:C | T123S | missense_variant | 0.55 | 0 |
17:7676001:T | T123N | missense_variant | 0.55 | 0 |
17:7676001:A | T123I | missense_variant | 0.55 | 0 |
17:7674278:G | C229R | missense_variant | 0.55 | 0 |
17:7674278:T | C229S | missense_variant | 0.55 | 0 |
17:7674278:C | C229G | missense_variant | 0.55 | 0 |
17:7674971:T | G187D | missense_variant | 0.55 | 0 |
17:7674971:G | G187A | missense_variant | 0.55 | 0 |
17:7674971:A | G187V | missense_variant | 0.55 | 0 |
17:7676011:A | K120* | stop_gained | 0.53 | 0 |
17:7674966:G | A189P | missense_variant | 0.52 | 0 |
17:7674966:A | A189S | missense_variant | 0.52 | 0 |
17:7674966:T | A189T | missense_variant | 0.52 | 0 |
17:7674936:A | G199* | stop_gained | 0.52 | 0 |
17:7676085:A | S95F | missense_variant | 0.52 | 0 |
17:7676085:C | S95C | missense_variant | 0.52 | 0 |
17:7676085:T | S95Y | missense_variant | 0.52 | 0 |
17:7673707:A | K305* | stop_gained | 0.51 | 0 |
17:7676527:T | W23* | stop_gained | 0.51 | 0 |
17:7673555:A | G325* | stop_gained | 0.51 | 0 |
17:7676022:A | S116F | missense_variant | 0.51 | 0 |
17:7676022:T | S116Y | missense_variant | 0.51 | 0 |
17:7676022:C | S116C | missense_variant | 0.51 | 0 |
17:7673567:A | K321* | stop_gained | 0.51 | 0 |
Cancer type | Selected cancer type | Mutational discovery Index | Feature Complexity |
---|---|---|---|
(UCS) Uterine carcinosarcoma | UCS | 0.32 | 0.28 |