Mutation | AA change | Consequence type | BoostDM score | IntOGen frequency |
---|---|---|---|---|
16:68738315:T | Q23* | stop_gained | 1.00 | 16 |
16:68801693:T | R63* | stop_gained | 1.00 | 6 |
16:68810272:T | Q255* | stop_gained | 1.00 | 4 |
16:68801891:T | Q129* | stop_gained | 1.00 | 3 |
16:68815725:T | Q511* | stop_gained | 1.00 | 3 |
16:68822210:T | Q641* | stop_gained | 1.00 | 2 |
16:68801726:T | R74* | stop_gained | 1.00 | 2 |
16:68823479:T | Q673* | stop_gained | 1.00 | 2 |
16:68815674:T | E494* | stop_gained | 1.00 | 2 |
16:68819283:G | Y523* | stop_gained | 1.00 | 1 |
16:68811854:T | R335* | stop_gained | 1.00 | 1 |
16:68808744:T | Q195* | stop_gained | 1.00 | 1 |
16:68737461:T | Q16* | stop_gained | 1.00 | 1 |
16:68815701:T | Q503* | stop_gained | 1.00 | 1 |
16:68823464:T | K668* | stop_gained | 1.00 | 1 |
16:68815536:T | Q448* | stop_gained | 1.00 | 1 |
16:68822117:T | Q610* | stop_gained | 1.00 | 1 |
16:68833402:G | S851* | stop_gained | 1.00 | 1 |
16:68811859:A | E336E | splice_region_variant | 1.00 | 1 |
16:68823401:T | Q647* | stop_gained | 1.00 | 1 |
16:68810341:T | G278* | stop_gained | 1.00 | 1 |
16:68810290:T | E261* | stop_gained | 1.00 | 1 |
16:68801815:A | W103* | stop_gained | 1.00 | 1 |
16:68801710:A | Y68* | stop_gained | 1.00 | 1 |
16:68823557:T | Q699* | stop_gained | 1.00 | 1 |
16:68833355:A | Y835* | stop_gained | 1.00 | 1 |
16:68737441:A | S9* | stop_gained | 1.00 | 1 |
16:68812263:A | T379T | splice_region_variant | 0.99 | 1 |
16:68738308:A | W20* | stop_gained | 1.00 | 0 |
16:68808720:T | K187* | stop_gained | 1.00 | 0 |
16:68815581:T | E463* | stop_gained | 1.00 | 0 |
16:68808731:A | Y190* | stop_gained | 1.00 | 0 |
16:68808731:G | Y190* | stop_gained | 1.00 | 0 |
16:68808442:T | Q136* | stop_gained | 1.00 | 0 |
16:68819314:T | E534* | stop_gained | 1.00 | 0 |
16:68812162:T | Q346* | stop_gained | 1.00 | 0 |
16:68815668:T | R492* | stop_gained | 1.00 | 0 |
16:68819292:A | W526* | stop_gained | 1.00 | 0 |
16:68813364:T | K397* | stop_gained | 1.00 | 0 |
16:68819397:G | Y561* | stop_gained | 1.00 | 0 |
16:68819397:A | Y561* | stop_gained | 1.00 | 0 |
16:68819283:A | Y523* | stop_gained | 1.00 | 0 |
16:68738359:A | Y37* | stop_gained | 1.00 | 0 |
16:68738359:G | Y37* | stop_gained | 1.00 | 0 |
16:68813495:A | K440K | splice_region_variant | 1.00 | 0 |
16:68815662:T | E490* | stop_gained | 1.00 | 0 |
16:68808786:T | R209* | stop_gained | 1.00 | 0 |
16:68828271:A | Y754* | stop_gained | 1.00 | 0 |
16:68819353:T | E547* | stop_gained | 1.00 | 0 |
16:68828271:G | Y754* | stop_gained | 1.00 | 0 |
16:68823485:T | K675* | stop_gained | 1.00 | 0 |
16:68808567:A | Q177Q | splice_region_variant | 1.00 | 0 |
16:68815704:T | E504* | stop_gained | 1.00 | 0 |
16:68833404:T | E852* | stop_gained | 1.00 | 0 |
16:68811739:A | Y296* | stop_gained | 1.00 | 0 |
16:68811739:G | Y296* | stop_gained | 1.00 | 0 |
16:68815665:T | K491* | stop_gained | 1.00 | 0 |
16:68823578:T | Q706* | stop_gained | 1.00 | 0 |
16:68833408:A | S853* | stop_gained | 1.00 | 0 |
16:68833408:G | S853* | stop_gained | 1.00 | 0 |
16:68738314:A | C22* | stop_gained | 1.00 | 0 |
16:68808484:T | R150* | stop_gained | 1.00 | 0 |
16:68822111:T | K608* | stop_gained | 1.00 | 0 |
16:68815539:T | Q449* | stop_gained | 1.00 | 0 |
16:68813422:A | L416* | stop_gained | 1.00 | 0 |
16:68808490:T | Q152* | stop_gained | 1.00 | 0 |
16:68823566:T | E702* | stop_gained | 1.00 | 0 |
16:68808487:T | R151* | stop_gained | 1.00 | 0 |
16:68801732:T | K76* | stop_gained | 1.00 | 0 |
16:68833413:T | K855* | stop_gained | 1.00 | 0 |
16:68808436:T | G134* | stop_gained | 1.00 | 0 |
16:68823551:T | K697* | stop_gained | 1.00 | 0 |
16:68801827:G | Y107* | stop_gained | 1.00 | 0 |
16:68801827:A | Y107* | stop_gained | 1.00 | 0 |
16:68819383:T | K557* | stop_gained | 1.00 | 0 |
16:68819293:T | R527* | stop_gained | 1.00 | 0 |
16:68738307:A | W20* | stop_gained | 1.00 | 0 |
16:68822098:A | C603* | stop_gained | 1.00 | 0 |
16:68801678:T | E58* | stop_gained | 1.00 | 0 |
16:68813436:T | G421* | stop_gained | 1.00 | 0 |
16:68808705:T | K182* | stop_gained | 1.00 | 0 |
16:68819291:A | W526* | stop_gained | 1.00 | 0 |
16:68738351:T | E35* | stop_gained | 1.00 | 0 |
16:68808789:T | E210* | stop_gained | 1.00 | 0 |
16:68801789:T | Q95* | stop_gained | 1.00 | 0 |
16:68738387:T | E47* | stop_gained | 1.00 | 0 |
16:68810216:G | S236* | stop_gained | 1.00 | 0 |
16:68810216:A | S236* | stop_gained | 1.00 | 0 |
16:68828304:A | Q765Q | splice_region_variant | 1.00 | 0 |
16:68808538:T | K168* | stop_gained | 1.00 | 0 |
16:68738318:T | E24* | stop_gained | 1.00 | 0 |
16:68801843:T | K113* | stop_gained | 1.00 | 0 |
16:68822099:T | E604* | stop_gained | 1.00 | 0 |
16:68823425:T | K655* | stop_gained | 1.00 | 0 |
16:68823419:T | K653* | stop_gained | 1.00 | 0 |
16:68808804:T | K215* | stop_gained | 1.00 | 0 |
16:68801696:T | Q64* | stop_gained | 1.00 | 0 |
16:68812190:A | L355* | stop_gained | 1.00 | 0 |
16:68812190:G | L355* | stop_gained | 1.00 | 0 |
16:68801828:T | R108* | stop_gained | 1.00 | 0 |
16:68813414:A | Y413* | stop_gained | 1.00 | 0 |
16:68813414:G | Y413* | stop_gained | 1.00 | 0 |
16:68833433:A | Y861* | stop_gained | 1.00 | 0 |
16:68833433:G | Y861* | stop_gained | 1.00 | 0 |
16:68808799:A | W213* | stop_gained | 1.00 | 0 |
16:68808553:T | K173* | stop_gained | 1.00 | 0 |
16:68738324:T | E26* | stop_gained | 1.00 | 0 |
16:68815533:T | K447* | stop_gained | 1.00 | 0 |
16:68808825:T | R222* | stop_gained | 1.00 | 0 |
16:68810284:T | K259* | stop_gained | 1.00 | 0 |
16:68833402:A | S851* | stop_gained | 1.00 | 0 |
16:68828209:T | R734* | stop_gained | 1.00 | 0 |
16:68833296:T | K816* | stop_gained | 1.00 | 0 |
16:68813493:T | K440* | stop_gained | 1.00 | 0 |
16:68813331:T | E386* | stop_gained | 1.00 | 0 |
16:68828268:G | Y753* | stop_gained | 1.00 | 0 |
16:68828268:A | Y753* | stop_gained | 1.00 | 0 |
16:68829664:A | L769* | stop_gained | 1.00 | 0 |
16:68801686:A | C60* | stop_gained | 1.00 | 0 |
16:68823506:T | E682* | stop_gained | 1.00 | 0 |
16:68808535:T | E167* | stop_gained | 1.00 | 0 |
16:68812149:G | Y341* | stop_gained | 1.00 | 0 |
16:68812149:A | Y341* | stop_gained | 1.00 | 0 |
16:68812177:T | Q351* | stop_gained | 1.00 | 0 |
16:68811698:T | E283* | stop_gained | 1.00 | 0 |
16:68808525:A | C163* | stop_gained | 1.00 | 0 |
16:68833419:T | Q857* | stop_gained | 1.00 | 0 |
16:68808452:A | L139* | stop_gained | 1.00 | 0 |
16:68823527:T | E689* | stop_gained | 1.00 | 0 |
16:68738390:T | R48* | stop_gained | 1.00 | 0 |
16:68828281:T | E758* | stop_gained | 1.00 | 0 |
16:68823572:T | G704* | stop_gained | 1.00 | 0 |
16:68808783:T | E208* | stop_gained | 1.00 | 0 |
16:68811770:T | Q307* | stop_gained | 1.00 | 0 |
16:68829774:T | E806* | stop_gained | 1.00 | 0 |
16:68813401:A | W409* | stop_gained | 1.00 | 0 |
16:68813402:A | W409* | stop_gained | 1.00 | 0 |
16:68819365:T | E551* | stop_gained | 1.00 | 0 |
16:68808845:A | Y228* | stop_gained | 1.00 | 0 |
16:68808845:G | Y228* | stop_gained | 1.00 | 0 |
16:68828231:G | L741* | stop_gained | 1.00 | 0 |
16:68828231:A | L741* | stop_gained | 1.00 | 0 |
16:68813439:T | Q422* | stop_gained | 1.00 | 0 |
16:68833440:T | E864* | stop_gained | 1.00 | 0 |
16:68828302:T | Q765* | stop_gained | 1.00 | 0 |
16:68808696:T | K179* | stop_gained | 1.00 | 0 |
16:68829795:T | E813* | stop_gained | 1.00 | 0 |
16:68808800:A | W213* | stop_gained | 1.00 | 0 |
16:68828242:T | E745* | stop_gained | 1.00 | 0 |
16:68829780:T | G808* | stop_gained | 1.00 | 0 |
16:68828224:T | E739* | stop_gained | 1.00 | 0 |
16:68801831:T | K109* | stop_gained | 1.00 | 0 |
16:68813484:T | K437* | stop_gained | 1.00 | 0 |
16:68833458:T | K870* | stop_gained | 1.00 | 0 |
16:68828221:T | K738* | stop_gained | 1.00 | 0 |
16:68815544:A | Y450* | stop_gained | 1.00 | 0 |
16:68815544:G | Y450* | stop_gained | 1.00 | 0 |
16:68808565:T | Q177* | stop_gained | 1.00 | 0 |
16:68833371:T | E841* | stop_gained | 1.00 | 0 |
16:68823576:A | L705* | stop_gained | 1.00 | 0 |
16:68801814:A | W103* | stop_gained | 1.00 | 0 |
16:68822081:T | R598* | stop_gained | 1.00 | 0 |
16:68801762:T | K86* | stop_gained | 1.00 | 0 |
16:68823608:T | G716* | stop_gained | 1.00 | 0 |
16:68829669:T | Q771* | stop_gained | 1.00 | 0 |
16:68813482:A | L436* | stop_gained | 1.00 | 0 |
16:68822075:T | E596* | stop_gained | 1.00 | 0 |
16:68808496:T | R154* | stop_gained | 1.00 | 0 |
16:68808714:T | E185* | stop_gained | 1.00 | 0 |
16:68815749:T | Q519* | stop_gained | 1.00 | 0 |
16:68810255:A | L249* | stop_gained | 1.00 | 0 |
16:68808448:T | E138* | stop_gained | 1.00 | 0 |
16:68812183:T | E353* | stop_gained | 1.00 | 0 |
16:68815718:G | Y508* | stop_gained | 1.00 | 0 |
16:68815718:A | Y508* | stop_gained | 1.00 | 0 |
16:68823452:T | K664* | stop_gained | 1.00 | 0 |
16:68808711:T | K184* | stop_gained | 1.00 | 0 |
16:68811779:T | E310* | stop_gained | 1.00 | 0 |
16:68833488:T | E880* | stop_gained | 1.00 | 0 |
16:68823437:T | E659* | stop_gained | 1.00 | 0 |
16:68801710:G | Y68* | stop_gained | 1.00 | 0 |
16:68828274:G | Y755* | stop_gained | 1.00 | 0 |
16:68828274:A | Y755* | stop_gained | 1.00 | 0 |
16:68823404:T | E648* | stop_gained | 1.00 | 0 |
16:68822215:A | Y642* | stop_gained | 1.00 | 0 |
16:68822215:G | Y642* | stop_gained | 1.00 | 0 |
16:68833435:A | L862* | stop_gained | 1.00 | 0 |
16:68738332:A | C28* | stop_gained | 1.00 | 0 |
16:68823520:A | C686* | stop_gained | 1.00 | 0 |
16:68813337:T | E388* | stop_gained | 1.00 | 0 |
16:68823451:A | Y663* | stop_gained | 1.00 | 0 |
16:68823451:G | Y663* | stop_gained | 1.00 | 0 |
16:68810311:T | K268* | stop_gained | 1.00 | 0 |
16:68833478:A | Y876* | stop_gained | 1.00 | 0 |
16:68801809:A | Y101* | stop_gained | 1.00 | 0 |
16:68801809:G | Y101* | stop_gained | 1.00 | 0 |
16:68737426:A | W4* | stop_gained | 1.00 | 0 |
16:68833478:G | Y876* | stop_gained | 1.00 | 0 |
16:68833331:A | Y827* | stop_gained | 1.00 | 0 |
16:68833331:G | Y827* | stop_gained | 1.00 | 0 |
16:68811791:T | K314* | stop_gained | 1.00 | 0 |
16:68801802:A | L99* | stop_gained | 1.00 | 0 |
16:68737427:A | W4* | stop_gained | 1.00 | 0 |
16:68813403:T | E410* | stop_gained | 1.00 | 0 |
16:68813316:T | K381* | stop_gained | 1.00 | 0 |
16:68819374:T | E554* | stop_gained | 1.00 | 0 |
16:68823547:A | C695* | stop_gained | 1.00 | 0 |
16:68833427:G | Y859* | stop_gained | 1.00 | 0 |
16:68833427:A | Y859* | stop_gained | 1.00 | 0 |
16:68833355:G | Y835* | stop_gained | 1.00 | 0 |
16:68810302:T | E265* | stop_gained | 1.00 | 0 |
16:68823491:T | Q677* | stop_gained | 1.00 | 0 |
16:68823621:A | L720* | stop_gained | 1.00 | 0 |
16:68811857:T | E336* | stop_gained | 1.00 | 0 |
16:68811757:A | Y302* | stop_gained | 1.00 | 0 |
16:68811757:G | Y302* | stop_gained | 1.00 | 0 |
16:68822174:T | E629* | stop_gained | 1.00 | 0 |
16:68813322:T | Q383* | stop_gained | 1.00 | 0 |
16:68828176:T | L723L | splice_region_variant | 1.00 | 0 |
16:68815527:T | E445* | stop_gained | 1.00 | 0 |
16:68823417:A | L652* | stop_gained | 1.00 | 0 |
16:68808813:T | E218* | stop_gained | 1.00 | 0 |
16:68813315:A | Y380* | stop_gained | 1.00 | 0 |
16:68813315:G | Y380* | stop_gained | 1.00 | 0 |
16:68815746:T | E518* | stop_gained | 1.00 | 0 |
16:68829749:A | Y797* | stop_gained | 1.00 | 0 |
16:68829749:G | Y797* | stop_gained | 1.00 | 0 |
16:68815519:A | L442* | stop_gained | 1.00 | 0 |
16:68823526:A | C688* | stop_gained | 1.00 | 0 |
16:68810299:T | Q264* | stop_gained | 1.00 | 0 |
16:68738408:T | R54* | stop_gained | 1.00 | 0 |
16:68808529:T | E165* | stop_gained | 1.00 | 0 |
16:68810248:T | E247* | stop_gained | 1.00 | 0 |
16:68828192:A | L728* | stop_gained | 1.00 | 0 |
16:68823504:G | L681* | stop_gained | 0.99 | 0 |
16:68823435:A | L658* | stop_gained | 0.99 | 0 |
16:68823435:G | L658* | stop_gained | 0.99 | 0 |
16:68823504:A | L681* | stop_gained | 0.99 | 0 |
16:68808493:T | K153* | stop_gained | 0.99 | 0 |
16:68819310:A | W532* | stop_gained | 0.99 | 0 |
16:68819309:A | W532* | stop_gained | 0.99 | 0 |
16:68801671:C | V55V | splice_region_variant | 0.99 | 0 |
16:68801671:A | V55V | splice_region_variant | 0.99 | 0 |
16:68801671:T | V55V | splice_region_variant | 0.99 | 0 |
16:68812263:T | T379T | splice_region_variant | 0.99 | 0 |
16:68812263:C | T379T | splice_region_variant | 0.99 | 0 |
16:68810340:C | P277P | splice_region_variant | 0.99 | 0 |
16:68810340:T | P277P | splice_region_variant | 0.99 | 0 |
16:68810340:G | P277P | splice_region_variant | 0.99 | 0 |
16:68822224:T | P645P | splice_region_variant | 0.99 | 0 |
16:68822224:G | P645P | splice_region_variant | 0.99 | 0 |
16:68822224:C | P645P | splice_region_variant | 0.99 | 0 |
16:68738410:G | R54R | splice_region_variant | 0.99 | 0 |
16:68737463:A | Q16Q | splice_region_variant | 0.99 | 0 |
16:68833292:C | N814N | splice_region_variant | 0.99 | 0 |
16:68815752:T | K520* | stop_gained | 0.99 | 0 |
16:68823605:T | G715* | stop_gained | 0.99 | 0 |
16:68822018:T | G577* | stop_gained | 0.99 | 0 |
16:68833461:T | K871* | stop_gained | 0.99 | 0 |
16:68810326:T | E273* | stop_gained | 0.99 | 0 |
16:68829797:G | E813E | splice_region_variant | 0.99 | 0 |
16:68815728:T | E512* | stop_gained | 0.99 | 0 |
16:68810236:T | E243* | stop_gained | 0.99 | 0 |
16:68808504:A | W156* | stop_gained | 0.99 | 0 |
16:68808503:A | W156* | stop_gained | 0.99 | 0 |
16:68815638:T | E482* | stop_gained | 0.99 | 0 |
16:68808747:T | G196* | stop_gained | 0.99 | 0 |
16:68815683:T | E497* | stop_gained | 0.99 | 0 |
16:68808795:T | G212* | stop_gained | 0.99 | 0 |
16:68808828:T | E223* | stop_gained | 0.99 | 0 |
16:68828278:T | E757* | stop_gained | 0.99 | 0 |
16:68828284:T | G759* | stop_gained | 0.99 | 0 |
16:68828290:T | G761* | stop_gained | 0.99 | 0 |
16:68828293:T | E762* | stop_gained | 0.99 | 0 |
16:68828296:T | E763* | stop_gained | 0.99 | 0 |
16:68829699:T | E781* | stop_gained | 0.99 | 0 |
16:68833356:T | E836* | stop_gained | 0.99 | 0 |
16:68833359:T | G837* | stop_gained | 0.99 | 0 |
16:68833444:A | W865* | stop_gained | 0.99 | 0 |
16:68833445:A | W865* | stop_gained | 0.99 | 0 |
16:68811821:T | G324* | stop_gained | 0.99 | 0 |
16:68833479:T | G877* | stop_gained | 0.99 | 0 |
16:68808695:A | I178I | splice_region_variant | 0.99 | 0 |
16:68808695:T | I178I | splice_region_variant | 0.99 | 0 |
16:68810199:A | L230L | splice_region_variant | 0.99 | 0 |
16:68810199:T | L230L | splice_region_variant | 0.99 | 0 |
16:68810199:G | L230L | splice_region_variant | 0.99 | 0 |
16:68822202:A | W638* | stop_gained | 0.99 | 0 |
16:68822203:A | W638* | stop_gained | 0.99 | 0 |
16:68815757:C | I521I | splice_region_variant | 0.99 | 0 |
16:68815757:T | I521I | splice_region_variant | 0.99 | 0 |
16:68819280:G | T522T | splice_region_variant | 0.99 | 0 |
16:68819280:T | T522T | splice_region_variant | 0.99 | 0 |
16:68819280:C | T522T | splice_region_variant | 0.99 | 0 |
16:68829656:T | D766D | splice_region_variant | 0.90 | 0 |
16:68823400:G | T646T | splice_region_variant | 0.89 | 0 |
16:68823400:A | T646T | splice_region_variant | 0.89 | 0 |
16:68823400:T | T646T | splice_region_variant | 0.89 | 0 |
16:68808848:C | T229T | splice_region_variant | 0.88 | 0 |
16:68808848:A | T229T | splice_region_variant | 0.88 | 0 |
16:68808848:G | T229T | splice_region_variant | 0.88 | 0 |
16:68808426:G | A130A | splice_region_variant | 0.88 | 0 |
16:68808426:A | A130A | splice_region_variant | 0.88 | 0 |
16:68808426:T | A130A | splice_region_variant | 0.88 | 0 |
16:68811685:T | G278G | splice_region_variant | 0.88 | 0 |
16:68811685:G | G278G | splice_region_variant | 0.88 | 0 |
16:68811685:C | G278G | splice_region_variant | 0.88 | 0 |
16:68738299:T | V17V | splice_region_variant | 0.87 | 0 |
16:68738299:G | V17V | splice_region_variant | 0.87 | 0 |
16:68738299:A | V17V | splice_region_variant | 0.87 | 0 |
16:68819424:C | N570N | splice_region_variant | 0.87 | 0 |
16:68801893:A | Q129Q | splice_region_variant | 0.86 | 0 |
16:68823625:C | L721L | splice_region_variant | 0.86 | 0 |
16:68823625:T | L721L | splice_region_variant | 0.86 | 0 |
16:68823625:G | L721L | splice_region_variant | 0.86 | 0 |
16:68812137:C | S337S | splice_region_variant | 0.86 | 0 |
16:68828175:C | I722I | splice_region_variant | 0.86 | 0 |
16:68828175:A | I722I | splice_region_variant | 0.86 | 0 |
16:68813315:T | Y380Y | splice_region_variant | 0.85 | 0 |
16:68822002:A | G571G | splice_region_variant | 0.85 | 0 |
16:68822002:G | G571G | splice_region_variant | 0.85 | 0 |
16:68822002:C | G571G | splice_region_variant | 0.85 | 0 |
16:68815517:T | G441G | splice_region_variant | 0.85 | 0 |
16:68815517:A | G441G | splice_region_variant | 0.85 | 0 |
16:68815517:G | G441G | splice_region_variant | 0.85 | 0 |
Cancer type | Selected cancer type | Mutational discovery Index | Feature Complexity |
---|---|---|---|
(BRCA) Breast adenocarcinoma | BRCA | 0.24 | 0.14 |