Mutation | AA change | Consequence type | BoostDM score | IntOGen frequency |
---|---|---|---|---|
16:346590:A | R146* | stop_gained | 1.00 | 4 |
16:346448:T | M193K | missense_variant | 0.54 | 3 |
16:346164:A | E288* | stop_gained | 1.00 | 2 |
16:297861:A | Q549* | stop_gained | 1.00 | 2 |
16:298113:A | E465* | stop_gained | 1.00 | 2 |
16:346458:A | Q190* | stop_gained | 1.00 | 2 |
16:304420:A | E380* | stop_gained | 1.00 | 2 |
16:297780:A | R576* | stop_gained | 1.00 | 2 |
16:297192:A | K607* | stop_gained | 1.00 | 2 |
16:304342:A | E406* | stop_gained | 1.00 | 2 |
16:346962:A | R22* | stop_gained | 1.00 | 2 |
16:346233:A | G265* | stop_gained | 1.00 | 2 |
16:297909:A | R533* | stop_gained | 1.00 | 2 |
16:297179:T | S611* | stop_gained | 1.00 | 2 |
16:298174:T | W444* | stop_gained | 1.00 | 2 |
16:293540:A | R712* | stop_gained | 1.00 | 2 |
16:289485:A | T806I | missense_variant | 0.53 | 2 |
16:293624:A | Q684* | stop_gained | 1.00 | 1 |
16:293653:T | W674* | stop_gained | 1.00 | 1 |
16:346772:T | W85* | stop_gained | 1.00 | 1 |
16:346767:A | E87* | stop_gained | 1.00 | 1 |
16:297123:A | Q630* | stop_gained | 1.00 | 1 |
16:346218:A | K270* | stop_gained | 1.00 | 1 |
16:310038:A | Q351* | stop_gained | 1.00 | 1 |
16:346533:A | K165* | stop_gained | 1.00 | 1 |
16:347013:A | E5* | stop_gained | 1.00 | 1 |
16:346740:A | Q96* | stop_gained | 1.00 | 1 |
16:304348:A | E404* | stop_gained | 1.00 | 1 |
16:346938:A | G30* | stop_gained | 1.00 | 1 |
16:304369:A | E397* | stop_gained | 1.00 | 1 |
16:346974:A | E18* | stop_gained | 1.00 | 1 |
16:298116:A | E464* | stop_gained | 1.00 | 1 |
16:346644:A | E128* | stop_gained | 1.00 | 1 |
16:297107:T | W635* | stop_gained | 1.00 | 1 |
16:297849:A | E553* | stop_gained | 1.00 | 1 |
16:304387:A | E391* | stop_gained | 1.00 | 1 |
16:346470:A | Q186* | stop_gained | 1.00 | 1 |
16:314671:T | W297* | stop_gained | 1.00 | 1 |
16:298175:T | W444* | stop_gained | 1.00 | 1 |
16:346591:T | Y145* | stop_gained | 1.00 | 1 |
16:297772:T | Y578* | stop_gained | 1.00 | 1 |
16:346559:T | V156E | missense_variant | 0.54 | 1 |
16:346472:T | A185D | missense_variant | 0.52 | 1 |
16:314672:T | W297* | stop_gained | 1.00 | 0 |
16:298053:A | Q485* | stop_gained | 1.00 | 0 |
16:310020:A | Q357* | stop_gained | 1.00 | 0 |
16:346631:T | S132* | stop_gained | 1.00 | 0 |
16:346382:T | S215* | stop_gained | 1.00 | 0 |
16:298197:A | K437* | stop_gained | 1.00 | 0 |
16:298080:A | Q476* | stop_gained | 1.00 | 0 |
16:346626:A | E134* | stop_gained | 1.00 | 0 |
16:346206:A | E274* | stop_gained | 1.00 | 0 |
16:297864:A | E548* | stop_gained | 1.00 | 0 |
16:346403:T | L208* | stop_gained | 1.00 | 0 |
16:346863:A | E55* | stop_gained | 1.00 | 0 |
16:314592:A | Q324* | stop_gained | 1.00 | 0 |
16:346672:T | W118* | stop_gained | 1.00 | 0 |
16:346771:T | W85* | stop_gained | 1.00 | 0 |
16:346701:A | E109* | stop_gained | 1.00 | 0 |
16:346464:A | E188* | stop_gained | 1.00 | 0 |
16:346446:A | E194* | stop_gained | 1.00 | 0 |
16:346380:A | E216* | stop_gained | 1.00 | 0 |
16:346293:A | E245* | stop_gained | 1.00 | 0 |
16:346155:A | E291* | stop_gained | 1.00 | 0 |
16:298089:A | E473* | stop_gained | 1.00 | 0 |
16:346304:C | L241* | stop_gained | 1.00 | 0 |
16:346778:T | L83* | stop_gained | 1.00 | 0 |
16:346685:T | L114* | stop_gained | 1.00 | 0 |
16:346304:T | L241* | stop_gained | 1.00 | 0 |
16:304423:A | K379* | stop_gained | 1.00 | 0 |
16:346884:A | K48* | stop_gained | 1.00 | 0 |
16:293495:A | K727* | stop_gained | 1.00 | 0 |
16:298049:T | S486* | stop_gained | 1.00 | 0 |
16:289570:A | Q778* | stop_gained | 1.00 | 0 |
16:297204:A | K603* | stop_gained | 1.00 | 0 |
16:293696:A | Q660* | stop_gained | 1.00 | 0 |
16:288154:A | K853* | stop_gained | 1.00 | 0 |
16:346343:T | S228* | stop_gained | 1.00 | 0 |
16:346343:C | S228* | stop_gained | 1.00 | 0 |
16:346476:A | Q184* | stop_gained | 1.00 | 0 |
16:346835:T | S64* | stop_gained | 1.00 | 0 |
16:314595:A | Q323* | stop_gained | 1.00 | 0 |
16:293558:A | Q706* | stop_gained | 1.00 | 0 |
16:293603:A | Q691* | stop_gained | 1.00 | 0 |
16:346856:T | S57* | stop_gained | 1.00 | 0 |
16:346989:A | G13* | stop_gained | 1.00 | 0 |
16:288238:A | K825* | stop_gained | 1.00 | 0 |
16:289453:A | K817* | stop_gained | 1.00 | 0 |
16:297120:A | K631* | stop_gained | 1.00 | 0 |
16:288199:A | E838* | stop_gained | 1.00 | 0 |
16:304402:A | Q386* | stop_gained | 1.00 | 0 |
16:293702:A | K658* | stop_gained | 1.00 | 0 |
16:289477:A | Q809* | stop_gained | 1.00 | 0 |
16:288223:A | E830* | stop_gained | 1.00 | 0 |
16:346443:A | E195* | stop_gained | 1.00 | 0 |
16:304330:A | E410* | stop_gained | 1.00 | 0 |
16:304327:A | E411* | stop_gained | 1.00 | 0 |
16:304390:A | E390* | stop_gained | 1.00 | 0 |
16:346869:A | K53* | stop_gained | 1.00 | 0 |
16:346284:A | K248* | stop_gained | 1.00 | 0 |
16:297867:A | K547* | stop_gained | 1.00 | 0 |
16:346944:A | E28* | stop_gained | 1.00 | 0 |
16:304408:A | E384* | stop_gained | 1.00 | 0 |
16:314598:A | E322* | stop_gained | 1.00 | 0 |
16:346815:A | E71* | stop_gained | 1.00 | 0 |
16:346809:A | E73* | stop_gained | 1.00 | 0 |
16:346941:A | E29* | stop_gained | 1.00 | 0 |
16:297963:A | K515* | stop_gained | 1.00 | 0 |
16:298223:T | S428* | stop_gained | 1.00 | 0 |
16:288190:A | R841* | stop_gained | 1.00 | 0 |
16:289538:T | Y788* | stop_gained | 1.00 | 0 |
16:289538:C | Y788* | stop_gained | 1.00 | 0 |
16:289442:T | Y820* | stop_gained | 1.00 | 0 |
16:289442:C | Y820* | stop_gained | 1.00 | 0 |
16:288196:A | E839* | stop_gained | 1.00 | 0 |
16:288187:A | E842* | stop_gained | 1.00 | 0 |
16:289528:A | E792* | stop_gained | 1.00 | 0 |
16:288136:A | E859* | stop_gained | 1.00 | 0 |
16:289468:A | E812* | stop_gained | 1.00 | 0 |
16:346935:A | E31* | stop_gained | 1.00 | 0 |
16:297189:A | K608* | stop_gained | 1.00 | 0 |
16:346275:A | Q251* | stop_gained | 1.00 | 0 |
16:314679:A | G295* | stop_gained | 1.00 | 0 |
16:298104:A | E468* | stop_gained | 1.00 | 0 |
16:314650:C | Y304* | stop_gained | 1.00 | 0 |
16:314650:T | Y304* | stop_gained | 1.00 | 0 |
16:291191:A | E765* | stop_gained | 1.00 | 0 |
16:346623:A | E135* | stop_gained | 1.00 | 0 |
16:297106:T | W635* | stop_gained | 1.00 | 0 |
16:297143:T | S623* | stop_gained | 1.00 | 0 |
16:298245:A | E421* | stop_gained | 1.00 | 0 |
16:297141:A | E624* | stop_gained | 1.00 | 0 |
16:297132:A | E627* | stop_gained | 1.00 | 0 |
16:298248:A | E420* | stop_gained | 1.00 | 0 |
16:297129:A | K628* | stop_gained | 1.00 | 0 |
16:297087:A | E642* | stop_gained | 1.00 | 0 |
16:293522:A | E718* | stop_gained | 1.00 | 0 |
16:346168:T | Y286* | stop_gained | 1.00 | 0 |
16:346168:C | Y286* | stop_gained | 1.00 | 0 |
16:291272:A | G738* | stop_gained | 1.00 | 0 |
16:310051:C | Y346* | stop_gained | 1.00 | 0 |
16:310051:T | Y346* | stop_gained | 1.00 | 0 |
16:289603:A | R767* | stop_gained | 1.00 | 0 |
16:346521:A | K169* | stop_gained | 1.00 | 0 |
16:288133:A | K860* | stop_gained | 1.00 | 0 |
16:346997:T | L10* | stop_gained | 1.00 | 0 |
16:346320:A | G236* | stop_gained | 1.00 | 0 |
16:346371:A | K219* | stop_gained | 1.00 | 0 |
16:346780:C | Y82* | stop_gained | 1.00 | 0 |
16:346780:T | Y82* | stop_gained | 1.00 | 0 |
16:304318:A | K414* | stop_gained | 1.00 | 0 |
16:297939:A | K523* | stop_gained | 1.00 | 0 |
16:346602:A | R142* | stop_gained | 1.00 | 0 |
16:304339:A | E407* | stop_gained | 1.00 | 0 |
16:293531:A | E715* | stop_gained | 1.00 | 0 |
16:297814:T | W564* | stop_gained | 1.00 | 0 |
16:297111:A | Q634* | stop_gained | 1.00 | 0 |
16:297855:A | E551* | stop_gained | 1.00 | 0 |
16:297099:A | E638* | stop_gained | 1.00 | 0 |
16:297815:T | W564* | stop_gained | 1.00 | 0 |
16:298005:A | K501* | stop_gained | 1.00 | 0 |
16:298251:A | E419* | stop_gained | 1.00 | 0 |
16:297807:A | E567* | stop_gained | 1.00 | 0 |
16:289456:A | K816* | stop_gained | 1.00 | 0 |
16:347016:A | Q4* | stop_gained | 1.00 | 0 |
16:346763:T | S88* | stop_gained | 1.00 | 0 |
16:346356:A | Q224* | stop_gained | 1.00 | 0 |
16:346763:C | S88* | stop_gained | 1.00 | 0 |
16:346503:A | Q175* | stop_gained | 1.00 | 0 |
16:288160:A | E851* | stop_gained | 1.00 | 0 |
16:297768:A | E580* | stop_gained | 1.00 | 0 |
16:346221:A | Q269* | stop_gained | 1.00 | 0 |
16:314667:A | E299* | stop_gained | 1.00 | 0 |
16:346290:A | E246* | stop_gained | 1.00 | 0 |
16:310041:A | K350* | stop_gained | 1.00 | 0 |
16:346299:A | E243* | stop_gained | 1.00 | 0 |
16:293525:A | E717* | stop_gained | 1.00 | 0 |
16:293552:A | E708* | stop_gained | 1.00 | 0 |
16:293549:A | E709* | stop_gained | 1.00 | 0 |
16:293528:A | E716* | stop_gained | 1.00 | 0 |
16:346285:T | W247* | stop_gained | 1.00 | 0 |
16:346286:T | W247* | stop_gained | 1.00 | 0 |
16:310026:A | E355* | stop_gained | 1.00 | 0 |
16:310017:A | E358* | stop_gained | 1.00 | 0 |
16:346663:T | C121* | stop_gained | 1.00 | 0 |
16:346401:A | E209* | stop_gained | 1.00 | 0 |
16:297831:A | Q559* | stop_gained | 1.00 | 0 |
16:346673:T | W118* | stop_gained | 1.00 | 0 |
16:304399:A | K387* | stop_gained | 1.00 | 0 |
16:346587:A | K147* | stop_gained | 1.00 | 0 |
16:297183:A | E610* | stop_gained | 1.00 | 0 |
16:297222:A | K597* | stop_gained | 1.00 | 0 |
16:298239:A | E423* | stop_gained | 1.00 | 0 |
16:293663:A | E671* | stop_gained | 1.00 | 0 |
16:346650:A | K126* | stop_gained | 1.00 | 0 |
16:310008:A | Q361* | stop_gained | 1.00 | 0 |
16:304360:A | Q400* | stop_gained | 1.00 | 0 |
16:297159:A | E618* | stop_gained | 1.00 | 0 |
16:293642:A | Q678* | stop_gained | 1.00 | 0 |
16:346551:A | Q159* | stop_gained | 1.00 | 0 |
16:288157:A | E852* | stop_gained | 1.00 | 0 |
16:346704:A | Q108* | stop_gained | 1.00 | 0 |
16:289597:A | Q769* | stop_gained | 1.00 | 0 |
16:293492:A | Q728* | stop_gained | 1.00 | 0 |
16:346419:A | K203* | stop_gained | 1.00 | 0 |
16:346611:A | K139* | stop_gained | 1.00 | 0 |
16:346620:A | K136* | stop_gained | 1.00 | 0 |
16:346545:A | K161* | stop_gained | 1.00 | 0 |
16:288142:A | K857* | stop_gained | 1.00 | 0 |
16:288235:A | K826* | stop_gained | 1.00 | 0 |
16:289471:A | K811* | stop_gained | 1.00 | 0 |
16:293652:T | W674* | stop_gained | 1.00 | 0 |
16:297090:A | K641* | stop_gained | 1.00 | 0 |
16:297951:A | K519* | stop_gained | 1.00 | 0 |
16:293713:T | S654* | stop_gained | 1.00 | 0 |
16:346506:A | K174* | stop_gained | 1.00 | 0 |
16:289441:A | R821* | stop_gained | 1.00 | 0 |
16:289591:A | K771* | stop_gained | 1.00 | 0 |
16:293519:A | K719* | stop_gained | 1.00 | 0 |
16:304433:T | Y375* | stop_gained | 1.00 | 0 |
16:304433:C | Y375* | stop_gained | 1.00 | 0 |
16:291214:T | S757* | stop_gained | 1.00 | 0 |
16:293671:T | L668* | stop_gained | 1.00 | 0 |
16:347010:A | Q6* | stop_gained | 1.00 | 0 |
16:304336:A | K408* | stop_gained | 1.00 | 0 |
16:297093:A | E640* | stop_gained | 1.00 | 0 |
16:297174:A | K613* | stop_gained | 1.00 | 0 |
16:346332:A | K232* | stop_gained | 1.00 | 0 |
16:293516:A | R720* | stop_gained | 1.00 | 0 |
16:289599:T | S768* | stop_gained | 1.00 | 0 |
16:298220:C | S429* | stop_gained | 1.00 | 0 |
16:298220:T | S429* | stop_gained | 1.00 | 0 |
16:297974:T | S511* | stop_gained | 1.00 | 0 |
16:293687:A | E663* | stop_gained | 1.00 | 0 |
16:346263:A | E255* | stop_gained | 1.00 | 0 |
16:288181:A | E844* | stop_gained | 1.00 | 0 |
16:346776:A | K84* | stop_gained | 1.00 | 0 |
16:289514:C | Y796* | stop_gained | 1.00 | 0 |
16:289514:T | Y796* | stop_gained | 1.00 | 0 |
16:288245:C | Y822* | stop_gained | 1.00 | 0 |
16:288245:T | Y822* | stop_gained | 1.00 | 0 |
16:346432:C | Y198* | stop_gained | 1.00 | 0 |
16:346432:T | Y198* | stop_gained | 1.00 | 0 |
16:291206:A | E760* | stop_gained | 1.00 | 0 |
16:346513:T | C171* | stop_gained | 1.00 | 0 |
16:288242:T | Y823* | stop_gained | 1.00 | 0 |
16:288242:C | Y823* | stop_gained | 1.00 | 0 |
16:346582:T | Y148* | stop_gained | 1.00 | 0 |
16:346582:C | Y148* | stop_gained | 1.00 | 0 |
16:293507:A | R723* | stop_gained | 1.00 | 0 |
16:298201:T | C435* | stop_gained | 1.00 | 0 |
16:346591:C | Y145* | stop_gained | 1.00 | 0 |
16:346891:T | C45* | stop_gained | 1.00 | 0 |
16:346900:T | Y42* | stop_gained | 1.00 | 0 |
16:346900:C | Y42* | stop_gained | 1.00 | 0 |
16:346230:A | R266* | stop_gained | 1.00 | 0 |
16:291294:T | Y730* | stop_gained | 1.00 | 0 |
16:291294:C | Y730* | stop_gained | 1.00 | 0 |
16:291287:A | E733* | stop_gained | 1.00 | 0 |
16:314680:C | Y294* | stop_gained | 1.00 | 0 |
16:314680:T | Y294* | stop_gained | 1.00 | 0 |
16:291290:A | Q732* | stop_gained | 1.00 | 0 |
16:291197:A | E763* | stop_gained | 1.00 | 0 |
16:346158:A | R290* | stop_gained | 1.00 | 0 |
16:346396:C | Y210* | stop_gained | 1.00 | 0 |
16:346396:T | Y210* | stop_gained | 1.00 | 0 |
16:346707:A | K107* | stop_gained | 1.00 | 0 |
16:297770:T | S579* | stop_gained | 1.00 | 0 |
16:297770:C | S579* | stop_gained | 1.00 | 0 |
16:297201:A | R604* | stop_gained | 1.00 | 0 |
16:297772:C | Y578* | stop_gained | 1.00 | 0 |
16:293678:A | R666* | stop_gained | 1.00 | 0 |
16:291246:T | C746* | stop_gained | 1.00 | 0 |
16:346816:T | Y70* | stop_gained | 1.00 | 0 |
16:289562:T | C780* | stop_gained | 1.00 | 0 |
16:298138:T | C456* | stop_gained | 1.00 | 0 |
16:298153:T | C451* | stop_gained | 1.00 | 0 |
16:291261:T | C741* | stop_gained | 1.00 | 0 |
16:314632:C | Y310* | stop_gained | 1.00 | 0 |
16:314632:T | Y310* | stop_gained | 1.00 | 0 |
16:314647:C | Y305* | stop_gained | 1.00 | 0 |
16:314647:T | Y305* | stop_gained | 1.00 | 0 |
16:346636:T | C130* | stop_gained | 1.00 | 0 |
16:346251:A | R259* | stop_gained | 1.00 | 0 |
16:346816:C | Y70* | stop_gained | 1.00 | 0 |
16:346405:C | Y207* | stop_gained | 1.00 | 0 |
16:346405:T | Y207* | stop_gained | 1.00 | 0 |
16:297205:T | C602* | stop_gained | 1.00 | 0 |
16:346176:A | R284* | stop_gained | 1.00 | 0 |
16:346693:T | C111* | stop_gained | 1.00 | 0 |
16:346315:C | Y237* | stop_gained | 1.00 | 0 |
16:346315:T | Y237* | stop_gained | 1.00 | 0 |
16:346279:T | C249* | stop_gained | 1.00 | 0 |
16:346363:T | C221* | stop_gained | 1.00 | 0 |
16:297947:C | S520* | stop_gained | 1.00 | 0 |
16:297947:T | S520* | stop_gained | 1.00 | 0 |
16:289541:T | Y787* | stop_gained | 1.00 | 0 |
16:289541:C | Y787* | stop_gained | 1.00 | 0 |
16:289532:T | C790* | stop_gained | 1.00 | 0 |
16:288212:T | C833* | stop_gained | 1.00 | 0 |
16:293489:G | R729R | splice_region_variant | 1.00 | 0 |
16:289442:A | Y820Y | splice_region_variant | 0.94 | 0 |
16:346149:G | R293R | splice_region_variant | 0.92 | 0 |
16:346150:A | F292F | splice_region_variant | 0.91 | 0 |
16:297724:A | H594H | splice_region_variant | 0.61 | 0 |
16:289607:T | E765E | splice_region_variant | 0.59 | 0 |
16:298061:T | P482H | missense_variant | 0.54 | 0 |
16:298061:A | P482L | missense_variant | 0.54 | 0 |
16:298061:C | P482R | missense_variant | 0.54 | 0 |
16:297123:C | Q630E | missense_variant | 0.54 | 0 |
16:297123:T | Q630K | missense_variant | 0.54 | 0 |
16:346313:C | L238R | missense_variant | 0.54 | 0 |
16:346584:C | Y148D | missense_variant | 0.54 | 0 |
16:346584:G | Y148H | missense_variant | 0.54 | 0 |
16:346584:T | Y148N | missense_variant | 0.54 | 0 |
16:346593:C | Y145D | missense_variant | 0.54 | 0 |
16:346593:G | Y145H | missense_variant | 0.54 | 0 |
16:346593:T | Y145N | missense_variant | 0.54 | 0 |
16:346595:C | I144S | missense_variant | 0.54 | 0 |
16:346595:G | I144T | missense_variant | 0.54 | 0 |
16:346595:T | I144N | missense_variant | 0.54 | 0 |
16:346655:C | F124C | missense_variant | 0.54 | 0 |
16:346655:G | F124S | missense_variant | 0.54 | 0 |
16:346655:T | F124Y | missense_variant | 0.54 | 0 |
16:346656:C | F124V | missense_variant | 0.54 | 0 |
16:346656:G | F124L | missense_variant | 0.54 | 0 |
16:346656:T | F124I | missense_variant | 0.54 | 0 |
16:346665:C | C121G | missense_variant | 0.54 | 0 |
16:346665:G | C121R | missense_variant | 0.54 | 0 |
16:346665:T | C121S | missense_variant | 0.54 | 0 |
16:346670:C | F119C | missense_variant | 0.54 | 0 |
16:346670:G | F119S | missense_variant | 0.54 | 0 |
16:346670:T | F119Y | missense_variant | 0.54 | 0 |
16:346671:C | F119V | missense_variant | 0.54 | 0 |
16:346671:G | F119L | missense_variant | 0.54 | 0 |
16:346671:T | F119I | missense_variant | 0.54 | 0 |
16:346676:C | F117C | missense_variant | 0.54 | 0 |
16:346676:G | F117S | missense_variant | 0.54 | 0 |
16:346676:T | F117Y | missense_variant | 0.54 | 0 |
16:346682:C | L115R | missense_variant | 0.54 | 0 |
16:346682:G | L115P | missense_variant | 0.54 | 0 |
16:346682:T | L115Q | missense_variant | 0.54 | 0 |
16:346685:C | L114W | missense_variant | 0.54 | 0 |
16:346685:G | L114S | missense_variant | 0.54 | 0 |
16:346709:C | L106R | missense_variant | 0.54 | 0 |
16:346709:G | L106P | missense_variant | 0.54 | 0 |
16:346709:T | L106Q | missense_variant | 0.54 | 0 |
16:346713:C | F105V | missense_variant | 0.54 | 0 |
16:346713:G | F105L | missense_variant | 0.54 | 0 |
16:346713:T | F105I | missense_variant | 0.54 | 0 |
16:346721:C | F102C | missense_variant | 0.54 | 0 |
16:346721:G | F102S | missense_variant | 0.54 | 0 |
16:346721:T | F102Y | missense_variant | 0.54 | 0 |
16:346722:C | F102V | missense_variant | 0.54 | 0 |
16:346722:G | F102L | missense_variant | 0.54 | 0 |
16:346722:T | F102I | missense_variant | 0.54 | 0 |
16:346724:C | L101R | missense_variant | 0.54 | 0 |
16:346724:G | L101P | missense_variant | 0.54 | 0 |
16:346724:T | L101Q | missense_variant | 0.54 | 0 |
16:346748:C | L93R | missense_variant | 0.54 | 0 |
16:346748:G | L93P | missense_variant | 0.54 | 0 |
16:346748:T | L93Q | missense_variant | 0.54 | 0 |
16:346751:C | L92R | missense_variant | 0.54 | 0 |
16:346751:G | L92P | missense_variant | 0.54 | 0 |
16:346751:T | L92Q | missense_variant | 0.54 | 0 |
16:346797:T | S77T | missense_variant | 0.54 | 0 |
16:346797:G | S77P | missense_variant | 0.54 | 0 |
16:346797:C | S77A | missense_variant | 0.54 | 0 |
16:346778:G | L83S | missense_variant | 0.54 | 0 |
16:346778:C | L83W | missense_variant | 0.54 | 0 |
16:346773:T | W85R | missense_variant | 0.54 | 0 |
16:346773:G | W85R | missense_variant | 0.54 | 0 |
16:346773:C | W85G | missense_variant | 0.54 | 0 |
16:346764:T | S88T | missense_variant | 0.54 | 0 |
16:346764:G | S88P | missense_variant | 0.54 | 0 |
16:346764:C | S88A | missense_variant | 0.54 | 0 |
16:346760:T | L89Q | missense_variant | 0.54 | 0 |
16:346760:G | L89P | missense_variant | 0.54 | 0 |
16:346760:C | L89R | missense_variant | 0.54 | 0 |
16:346755:T | S91T | missense_variant | 0.54 | 0 |
16:346755:G | S91P | missense_variant | 0.54 | 0 |
16:346755:C | S91A | missense_variant | 0.54 | 0 |
16:346304:G | L241S | missense_variant | 0.54 | 0 |
16:346313:G | L238P | missense_variant | 0.54 | 0 |
16:346313:T | L238Q | missense_variant | 0.54 | 0 |
16:346407:C | Y207D | missense_variant | 0.54 | 0 |
16:346407:G | Y207H | missense_variant | 0.54 | 0 |
16:346407:T | Y207N | missense_variant | 0.54 | 0 |
16:346416:C | S204A | missense_variant | 0.54 | 0 |
16:346416:G | S204P | missense_variant | 0.54 | 0 |
16:346416:T | S204T | missense_variant | 0.54 | 0 |
16:346421:C | L202R | missense_variant | 0.54 | 0 |
16:346421:G | L202P | missense_variant | 0.54 | 0 |
16:346421:T | L202H | missense_variant | 0.54 | 0 |
16:346424:C | F201C | missense_variant | 0.54 | 0 |
16:346424:G | F201S | missense_variant | 0.54 | 0 |
16:346424:T | F201Y | missense_variant | 0.54 | 0 |
16:346425:C | F201V | missense_variant | 0.54 | 0 |
16:346425:G | F201L | missense_variant | 0.54 | 0 |
16:346425:T | F201I | missense_variant | 0.54 | 0 |
16:346448:C | M193R | missense_variant | 0.54 | 0 |
16:346448:G | M193T | missense_variant | 0.54 | 0 |
16:346481:C | F182C | missense_variant | 0.54 | 0 |
16:346481:G | F182S | missense_variant | 0.54 | 0 |
16:346481:T | F182Y | missense_variant | 0.54 | 0 |
16:346482:C | F182V | missense_variant | 0.54 | 0 |
16:346482:G | F182L | missense_variant | 0.54 | 0 |
16:346482:T | F182I | missense_variant | 0.54 | 0 |
16:346511:C | I172S | missense_variant | 0.54 | 0 |
16:346511:G | I172T | missense_variant | 0.54 | 0 |
16:346511:T | I172N | missense_variant | 0.54 | 0 |
16:346523:C | I168R | missense_variant | 0.54 | 0 |
16:346523:G | I168T | missense_variant | 0.54 | 0 |
16:346523:T | I168K | missense_variant | 0.54 | 0 |
16:346527:C | F167V | missense_variant | 0.54 | 0 |
16:346527:G | F167L | missense_variant | 0.54 | 0 |
16:346527:T | F167I | missense_variant | 0.54 | 0 |
16:346559:C | V156G | missense_variant | 0.54 | 0 |
16:346559:G | V156A | missense_variant | 0.54 | 0 |
16:346562:C | I155S | missense_variant | 0.54 | 0 |
16:346562:G | I155T | missense_variant | 0.54 | 0 |
16:346562:T | I155N | missense_variant | 0.54 | 0 |
16:346580:C | I149S | missense_variant | 0.54 | 0 |
16:346580:G | I149T | missense_variant | 0.54 | 0 |
16:346580:T | I149N | missense_variant | 0.54 | 0 |
16:289509:C | T798S | missense_variant | 0.53 | 0 |
16:289485:T | T806N | missense_variant | 0.53 | 0 |
16:289485:C | T806S | missense_variant | 0.53 | 0 |
16:289477:T | Q809K | missense_variant | 0.53 | 0 |
16:289477:C | Q809E | missense_variant | 0.53 | 0 |
16:289458:T | T815N | missense_variant | 0.53 | 0 |
16:289518:C | P795R | missense_variant | 0.53 | 0 |
16:289518:T | P795H | missense_variant | 0.53 | 0 |
16:289458:C | T815S | missense_variant | 0.53 | 0 |
16:289545:T | A786E | missense_variant | 0.53 | 0 |
16:289458:A | T815I | missense_variant | 0.53 | 0 |
16:289509:T | T798N | missense_variant | 0.53 | 0 |
16:289519:A | P795S | missense_variant | 0.53 | 0 |
16:289519:C | P795A | missense_variant | 0.53 | 0 |
16:289545:C | A786G | missense_variant | 0.53 | 0 |
16:289545:A | A786V | missense_variant | 0.53 | 0 |
16:289519:T | P795T | missense_variant | 0.53 | 0 |
16:289518:A | P795L | missense_variant | 0.53 | 0 |
16:289509:A | T798I | missense_variant | 0.53 | 0 |
16:288168:T | P848H | missense_variant | 0.53 | 0 |
16:288168:C | P848R | missense_variant | 0.53 | 0 |
16:288168:A | P848L | missense_variant | 0.53 | 0 |
16:298106:T | P467H | missense_variant | 0.53 | 0 |
16:298049:C | S486W | missense_variant | 0.53 | 0 |
16:298064:A | T481I | missense_variant | 0.53 | 0 |
16:298106:A | P467L | missense_variant | 0.53 | 0 |
16:289570:C | Q778E | missense_variant | 0.53 | 0 |
16:298064:T | T481K | missense_variant | 0.53 | 0 |
16:298064:C | T481R | missense_variant | 0.53 | 0 |
16:298049:A | S486L | missense_variant | 0.53 | 0 |
16:298107:T | P467T | missense_variant | 0.53 | 0 |
16:298107:C | P467A | missense_variant | 0.53 | 0 |
16:289570:T | Q778K | missense_variant | 0.53 | 0 |
16:298106:C | P467R | missense_variant | 0.53 | 0 |
16:298107:A | P467S | missense_variant | 0.53 | 0 |
16:289441:G | R821R | splice_region_variant | 0.52 | 0 |
16:310058:A | P344L | missense_variant | 0.52 | 0 |
16:310056:C | P345A | missense_variant | 0.52 | 0 |
16:310056:A | P345S | missense_variant | 0.52 | 0 |
16:310055:T | P345Q | missense_variant | 0.52 | 0 |
16:310055:C | P345R | missense_variant | 0.52 | 0 |
16:310055:A | P345L | missense_variant | 0.52 | 0 |
16:310038:T | Q351K | missense_variant | 0.52 | 0 |
16:310038:C | Q351E | missense_variant | 0.52 | 0 |
16:309981:T | H370N | missense_variant | 0.52 | 0 |
16:309981:C | H370D | missense_variant | 0.52 | 0 |
16:309981:A | H370Y | missense_variant | 0.52 | 0 |
16:309975:T | P372T | missense_variant | 0.52 | 0 |
16:309975:C | P372A | missense_variant | 0.52 | 0 |
16:309975:A | P372S | missense_variant | 0.52 | 0 |
16:309974:T | P372H | missense_variant | 0.52 | 0 |
16:309974:C | P372R | missense_variant | 0.52 | 0 |
16:309974:A | P372L | missense_variant | 0.52 | 0 |
16:310058:T | P344H | missense_variant | 0.52 | 0 |
16:310058:C | P344R | missense_variant | 0.52 | 0 |
16:310056:T | P345T | missense_variant | 0.52 | 0 |
16:346343:A | S228L | missense_variant | 0.52 | 0 |
16:346472:C | A185G | missense_variant | 0.52 | 0 |
16:304344:A | A405V | missense_variant | 0.52 | 0 |
16:304344:C | A405G | missense_variant | 0.52 | 0 |
16:304344:T | A405D | missense_variant | 0.52 | 0 |
16:304392:A | A389V | missense_variant | 0.52 | 0 |
16:304392:C | A389G | missense_variant | 0.52 | 0 |
16:304392:T | A389E | missense_variant | 0.52 | 0 |
16:304404:A | P385L | missense_variant | 0.52 | 0 |
16:304404:C | P385R | missense_variant | 0.52 | 0 |
16:304404:T | P385H | missense_variant | 0.52 | 0 |
16:304405:A | P385S | missense_variant | 0.52 | 0 |
16:304405:C | P385A | missense_variant | 0.52 | 0 |
16:304405:T | P385T | missense_variant | 0.52 | 0 |
16:304425:A | P378L | missense_variant | 0.52 | 0 |
16:304425:C | P378R | missense_variant | 0.52 | 0 |
16:304425:T | P378Q | missense_variant | 0.52 | 0 |
16:304426:A | P378S | missense_variant | 0.52 | 0 |
16:304426:C | P378A | missense_variant | 0.52 | 0 |
16:304426:T | P378T | missense_variant | 0.52 | 0 |
16:314561:A | S334F | missense_variant | 0.52 | 0 |
16:314561:C | S334C | missense_variant | 0.52 | 0 |
16:314561:T | S334Y | missense_variant | 0.52 | 0 |
16:314573:A | A330V | missense_variant | 0.52 | 0 |
16:314573:C | A330G | missense_variant | 0.52 | 0 |
16:314573:T | A330E | missense_variant | 0.52 | 0 |
16:314582:A | S327F | missense_variant | 0.52 | 0 |
16:314582:C | S327C | missense_variant | 0.52 | 0 |
16:314582:T | S327Y | missense_variant | 0.52 | 0 |
16:314595:C | Q323E | missense_variant | 0.52 | 0 |
16:314595:T | Q323K | missense_variant | 0.52 | 0 |
16:314609:A | A318V | missense_variant | 0.52 | 0 |
16:314609:C | A318G | missense_variant | 0.52 | 0 |
16:314609:T | A318D | missense_variant | 0.52 | 0 |
16:314621:A | P314L | missense_variant | 0.52 | 0 |
16:314621:C | P314R | missense_variant | 0.52 | 0 |
16:314621:T | P314Q | missense_variant | 0.52 | 0 |
16:314624:A | A313V | missense_variant | 0.52 | 0 |
16:314624:C | A313G | missense_variant | 0.52 | 0 |
16:314624:T | A313D | missense_variant | 0.52 | 0 |
16:346307:A | T240I | missense_variant | 0.52 | 0 |
16:346307:C | T240S | missense_variant | 0.52 | 0 |
16:346307:T | T240N | missense_variant | 0.52 | 0 |
16:346310:A | P239L | missense_variant | 0.52 | 0 |
16:346310:C | P239R | missense_variant | 0.52 | 0 |
16:346310:T | P239Q | missense_variant | 0.52 | 0 |
16:346311:A | P239S | missense_variant | 0.52 | 0 |
16:346311:C | P239A | missense_variant | 0.52 | 0 |
16:346311:T | P239T | missense_variant | 0.52 | 0 |
16:346349:A | S226F | missense_variant | 0.52 | 0 |
16:346349:C | S226C | missense_variant | 0.52 | 0 |
16:346349:T | S226Y | missense_variant | 0.52 | 0 |
16:346374:A | P218S | missense_variant | 0.52 | 0 |
16:346374:C | P218A | missense_variant | 0.52 | 0 |
16:346374:T | P218T | missense_variant | 0.52 | 0 |
16:346415:A | S204F | missense_variant | 0.52 | 0 |
16:346415:C | S204C | missense_variant | 0.52 | 0 |
16:346415:T | S204Y | missense_variant | 0.52 | 0 |
16:346458:C | Q190E | missense_variant | 0.52 | 0 |
16:346458:T | Q190K | missense_variant | 0.52 | 0 |
16:346472:A | A185V | missense_variant | 0.52 | 0 |
16:346476:C | Q184E | missense_variant | 0.52 | 0 |
16:346476:T | Q184K | missense_variant | 0.52 | 0 |
16:346490:A | P179L | missense_variant | 0.52 | 0 |
16:346490:C | P179R | missense_variant | 0.52 | 0 |
16:346490:T | P179H | missense_variant | 0.52 | 0 |
16:346491:A | P179S | missense_variant | 0.52 | 0 |
16:346491:C | P179A | missense_variant | 0.52 | 0 |
16:346491:T | P179T | missense_variant | 0.52 | 0 |
16:346525:C | F167L | missense_variant | 0.52 | 0 |
16:346525:T | F167L | missense_variant | 0.52 | 0 |
16:346535:A | T164I | missense_variant | 0.52 | 0 |
16:346535:C | T164S | missense_variant | 0.52 | 0 |
16:346535:T | T164N | missense_variant | 0.52 | 0 |
16:346541:A | P162L | missense_variant | 0.52 | 0 |
16:346541:C | P162R | missense_variant | 0.52 | 0 |
16:346541:T | P162Q | missense_variant | 0.52 | 0 |
16:346604:A | A141V | missense_variant | 0.52 | 0 |
16:346604:C | A141G | missense_variant | 0.52 | 0 |
16:346604:T | A141E | missense_variant | 0.52 | 0 |
16:346740:C | Q96E | missense_variant | 0.52 | 0 |
16:346740:T | Q96K | missense_variant | 0.52 | 0 |
16:346754:A | S91F | missense_variant | 0.52 | 0 |
16:346754:C | S91C | missense_variant | 0.52 | 0 |
16:346754:T | S91Y | missense_variant | 0.52 | 0 |
16:346787:T | P80Q | missense_variant | 0.52 | 0 |
16:346788:A | P80S | missense_variant | 0.52 | 0 |
16:346788:C | P80A | missense_variant | 0.52 | 0 |
16:346788:T | P80T | missense_variant | 0.52 | 0 |
16:346790:A | T79I | missense_variant | 0.52 | 0 |
16:346790:C | T79S | missense_variant | 0.52 | 0 |
16:346790:T | T79N | missense_variant | 0.52 | 0 |
16:346793:A | P78L | missense_variant | 0.52 | 0 |
16:346793:C | P78R | missense_variant | 0.52 | 0 |
16:346793:T | P78H | missense_variant | 0.52 | 0 |
16:346799:A | A76V | missense_variant | 0.52 | 0 |
16:346799:C | A76G | missense_variant | 0.52 | 0 |
16:346799:T | A76D | missense_variant | 0.52 | 0 |
16:346811:A | P72L | missense_variant | 0.52 | 0 |
16:346811:C | P72R | missense_variant | 0.52 | 0 |
16:346811:T | P72H | missense_variant | 0.52 | 0 |
16:346835:A | S64L | missense_variant | 0.52 | 0 |
16:346835:C | S64W | missense_variant | 0.52 | 0 |
16:346844:A | P61L | missense_variant | 0.52 | 0 |
16:346844:C | P61R | missense_variant | 0.52 | 0 |
16:346844:T | P61Q | missense_variant | 0.52 | 0 |
16:346845:A | P61S | missense_variant | 0.52 | 0 |
16:346845:C | P61A | missense_variant | 0.52 | 0 |
16:346845:T | P61T | missense_variant | 0.52 | 0 |
16:346847:A | T60I | missense_variant | 0.52 | 0 |
16:346847:C | T60S | missense_variant | 0.52 | 0 |
16:346847:T | T60N | missense_variant | 0.52 | 0 |
16:346949:A | P26L | missense_variant | 0.52 | 0 |
16:346949:C | P26R | missense_variant | 0.52 | 0 |
16:346949:T | P26H | missense_variant | 0.52 | 0 |
16:346950:A | P26S | missense_variant | 0.52 | 0 |
16:346950:C | P26A | missense_variant | 0.52 | 0 |
16:346950:T | P26T | missense_variant | 0.52 | 0 |
16:346955:A | P24L | missense_variant | 0.52 | 0 |
16:346955:C | P24R | missense_variant | 0.52 | 0 |
16:346955:T | P24Q | missense_variant | 0.52 | 0 |
16:346956:A | P24S | missense_variant | 0.52 | 0 |
16:346956:C | P24A | missense_variant | 0.52 | 0 |
16:346956:T | P24T | missense_variant | 0.52 | 0 |
16:346958:A | P23L | missense_variant | 0.52 | 0 |
16:346958:C | P23R | missense_variant | 0.52 | 0 |
16:346958:T | P23H | missense_variant | 0.52 | 0 |
16:346959:A | P23S | missense_variant | 0.52 | 0 |
16:346959:C | P23A | missense_variant | 0.52 | 0 |
16:346959:T | P23T | missense_variant | 0.52 | 0 |
16:346964:A | P21L | missense_variant | 0.52 | 0 |
16:346964:C | P21R | missense_variant | 0.52 | 0 |
16:346964:T | P21H | missense_variant | 0.52 | 0 |
16:346965:A | P21S | missense_variant | 0.52 | 0 |
16:346965:C | P21A | missense_variant | 0.52 | 0 |
16:346965:T | P21T | missense_variant | 0.52 | 0 |
16:346784:A | P81L | missense_variant | 0.52 | 0 |
16:346784:C | P81R | missense_variant | 0.52 | 0 |
16:346784:T | P81Q | missense_variant | 0.52 | 0 |
16:346787:A | P80L | missense_variant | 0.52 | 0 |
16:346787:C | P80R | missense_variant | 0.52 | 0 |
16:293596:A | P693L | missense_variant | 0.52 | 0 |
16:293558:T | Q706K | missense_variant | 0.52 | 0 |
16:293566:A | P703L | missense_variant | 0.52 | 0 |
16:293566:C | P703R | missense_variant | 0.52 | 0 |
16:293566:T | P703H | missense_variant | 0.52 | 0 |
16:293573:A | P701S | missense_variant | 0.52 | 0 |
16:293573:C | P701A | missense_variant | 0.52 | 0 |
16:293573:T | P701T | missense_variant | 0.52 | 0 |
16:293575:A | A700V | missense_variant | 0.52 | 0 |
16:293575:C | A700G | missense_variant | 0.52 | 0 |
16:293575:T | A700D | missense_variant | 0.52 | 0 |
16:293578:A | P699L | missense_variant | 0.52 | 0 |
16:293578:C | P699R | missense_variant | 0.52 | 0 |
16:293578:T | P699Q | missense_variant | 0.52 | 0 |
16:293584:A | P697L | missense_variant | 0.52 | 0 |
16:293584:C | P697R | missense_variant | 0.52 | 0 |
16:293584:T | P697H | missense_variant | 0.52 | 0 |
16:293585:A | P697S | missense_variant | 0.52 | 0 |
16:293585:C | P697A | missense_variant | 0.52 | 0 |
16:293585:T | P697T | missense_variant | 0.52 | 0 |
16:293587:A | P696L | missense_variant | 0.52 | 0 |
16:314622:T | P314T | missense_variant | 0.52 | 0 |
16:314622:C | P314A | missense_variant | 0.52 | 0 |
16:293612:C | L688V | missense_variant | 0.52 | 0 |
16:293612:T | L688I | missense_variant | 0.52 | 0 |
16:293596:C | P693R | missense_variant | 0.52 | 0 |
16:293615:A | H687Y | missense_variant | 0.52 | 0 |
16:293615:C | H687D | missense_variant | 0.52 | 0 |
16:293620:T | P685H | missense_variant | 0.52 | 0 |
16:293621:A | P685S | missense_variant | 0.52 | 0 |
16:293621:C | P685A | missense_variant | 0.52 | 0 |
16:293621:T | P685T | missense_variant | 0.52 | 0 |
16:293615:T | H687N | missense_variant | 0.52 | 0 |
16:293620:A | P685L | missense_variant | 0.52 | 0 |
16:293620:C | P685R | missense_variant | 0.52 | 0 |
16:293588:T | P696T | missense_variant | 0.52 | 0 |
16:293558:C | Q706E | missense_variant | 0.52 | 0 |
16:293596:T | P693H | missense_variant | 0.52 | 0 |
16:314622:A | P314S | missense_variant | 0.52 | 0 |
16:293587:C | P696R | missense_variant | 0.52 | 0 |
16:293587:T | P696Q | missense_variant | 0.52 | 0 |
16:293597:A | P693S | missense_variant | 0.52 | 0 |
16:293597:C | P693A | missense_variant | 0.52 | 0 |
16:293597:T | P693T | missense_variant | 0.52 | 0 |
16:293588:A | P696S | missense_variant | 0.52 | 0 |
16:293603:C | Q691E | missense_variant | 0.52 | 0 |
16:293603:T | Q691K | missense_variant | 0.52 | 0 |
16:293612:A | L688F | missense_variant | 0.52 | 0 |
16:293588:C | P696A | missense_variant | 0.52 | 0 |
16:346856:A | S57L | missense_variant | 0.52 | 0 |
16:346856:C | S57W | missense_variant | 0.52 | 0 |
Cancer type | Selected cancer type | Mutational discovery Index | Feature Complexity |
---|---|---|---|
(HC) Hepatic cancer | HC | 0.38 | 0.06 |