Mutation | AA change | Consequence type | BoostDM score | IntOGen frequency |
---|---|---|---|---|
18:51065548:T | R361C | missense_variant | 1.00 | 7 |
18:51065549:A | R361H | missense_variant | 1.00 | 5 |
18:51076662:T | R445* | stop_gained | 0.94 | 4 |
18:51065518:C | D351H | missense_variant | 0.99 | 3 |
18:51067036:A | G386D | missense_variant | 0.91 | 3 |
18:51065533:T | P356S | missense_variant | 0.99 | 2 |
18:51065556:G | C363W | missense_variant | 0.98 | 2 |
18:51065548:G | R361G | missense_variant | 1.00 | 1 |
18:51065548:A | R361S | missense_variant | 1.00 | 1 |
18:51065534:T | P356L | missense_variant | 1.00 | 1 |
18:51065555:A | C363Y | missense_variant | 0.99 | 1 |
18:51065518:T | D351Y | missense_variant | 0.99 | 1 |
18:51065524:G | Y353D | missense_variant | 0.99 | 1 |
18:51065563:T | Q366* | stop_gained | 0.99 | 1 |
18:51078394:G | L529* | stop_gained | 0.98 | 1 |
18:51078336:T | G510* | stop_gained | 0.97 | 1 |
18:51048732:A | W99* | stop_gained | 0.97 | 1 |
18:51065519:T | D351V | missense_variant | 0.97 | 1 |
18:51058417:T | Q289* | stop_gained | 0.97 | 1 |
18:51065455:T | E330* | stop_gained | 0.96 | 1 |
18:51078417:C | D537H | missense_variant | 0.95 | 1 |
18:51078418:G | D537G | missense_variant | 0.93 | 1 |
18:51059866:A | W302* | stop_gained | 0.93 | 1 |
18:51058190:T | Q245* | stop_gained | 0.92 | 1 |
18:51067036:T | G386V | missense_variant | 0.91 | 1 |
18:51048782:T | Q116* | stop_gained | 0.91 | 1 |
18:51049301:G | S144* | stop_gained | 0.90 | 1 |
18:51054859:G | S178* | stop_gained | 0.87 | 1 |
18:51067095:A | A406T | missense_variant | 0.81 | 1 |
18:51067065:A | D396N | missense_variant | 0.81 | 1 |
18:51067147:A | G423E | missense_variant | 0.81 | 1 |
18:51067047:C | E390Q | missense_variant | 0.81 | 1 |
18:51078384:A | E526K | missense_variant | 0.52 | 1 |
18:51078379:T | W524L | missense_variant | 0.52 | 1 |
18:51065549:T | R361L | missense_variant | 1.00 | 0 |
18:51065549:C | R361P | missense_variant | 1.00 | 0 |
18:51065554:C | C363R | missense_variant | 1.00 | 0 |
18:51065554:A | C363S | missense_variant | 1.00 | 0 |
18:51065554:G | C363G | missense_variant | 1.00 | 0 |
18:51065534:G | P356R | missense_variant | 1.00 | 0 |
18:51065534:A | P356H | missense_variant | 1.00 | 0 |
18:51065533:G | P356A | missense_variant | 0.99 | 0 |
18:51065533:A | P356T | missense_variant | 0.99 | 0 |
18:51065555:C | C363S | missense_variant | 0.99 | 0 |
18:51065555:T | C363F | missense_variant | 0.99 | 0 |
18:51065518:A | D351N | missense_variant | 0.99 | 0 |
18:51065558:A | L364* | stop_gained | 0.99 | 0 |
18:51065524:A | Y353N | missense_variant | 0.99 | 0 |
18:51065524:C | Y353H | missense_variant | 0.99 | 0 |
18:51067041:T | Q388* | stop_gained | 0.99 | 0 |
18:51067107:T | Q410* | stop_gained | 0.99 | 0 |
18:51067059:T | E394* | stop_gained | 0.99 | 0 |
18:51067073:A | W398* | stop_gained | 0.99 | 0 |
18:51067072:A | W398* | stop_gained | 0.99 | 0 |
18:51067146:T | G423* | stop_gained | 0.99 | 0 |
18:51067047:T | E390* | stop_gained | 0.99 | 0 |
18:51067128:T | E417* | stop_gained | 0.99 | 0 |
18:51078394:A | L529* | stop_gained | 0.98 | 0 |
18:51078301:G | L498* | stop_gained | 0.98 | 0 |
18:51078301:A | L498* | stop_gained | 0.98 | 0 |
18:51076648:A | L440* | stop_gained | 0.98 | 0 |
18:51065556:A | C363* | stop_gained | 0.98 | 0 |
18:51076692:T | Q455* | stop_gained | 0.98 | 0 |
18:51076677:T | Q450* | stop_gained | 0.98 | 0 |
18:51076653:T | Q442* | stop_gained | 0.98 | 0 |
18:51078354:T | Q516* | stop_gained | 0.98 | 0 |
18:51076674:T | Q449* | stop_gained | 0.98 | 0 |
18:51076671:T | Q448* | stop_gained | 0.98 | 0 |
18:51076710:T | Q461* | stop_gained | 0.98 | 0 |
18:51076665:T | Q446* | stop_gained | 0.98 | 0 |
18:51065539:T | G358* | stop_gained | 0.98 | 0 |
18:51065542:T | G359* | stop_gained | 0.98 | 0 |
18:51048849:A | S138* | stop_gained | 0.98 | 0 |
18:51048849:G | S138* | stop_gained | 0.98 | 0 |
18:51065476:T | E337* | stop_gained | 0.97 | 0 |
18:51078335:A | W509* | stop_gained | 0.97 | 0 |
18:51076728:T | G467* | stop_gained | 0.97 | 0 |
18:51076746:T | G473* | stop_gained | 0.97 | 0 |
18:51076758:T | G477* | stop_gained | 0.97 | 0 |
18:51078334:A | W509* | stop_gained | 0.97 | 0 |
18:51078380:A | W524* | stop_gained | 0.97 | 0 |
18:51078379:A | W524* | stop_gained | 0.97 | 0 |
18:51078384:T | E526* | stop_gained | 0.97 | 0 |
18:51048701:T | G89* | stop_gained | 0.97 | 0 |
18:51047134:T | G30* | stop_gained | 0.97 | 0 |
18:51047203:T | E53* | stop_gained | 0.97 | 0 |
18:51047167:T | E41* | stop_gained | 0.97 | 0 |
18:51048758:T | E108* | stop_gained | 0.97 | 0 |
18:51048739:A | W101* | stop_gained | 0.97 | 0 |
18:51048738:A | W101* | stop_gained | 0.97 | 0 |
18:51047143:T | E33* | stop_gained | 0.97 | 0 |
18:51047137:T | E31* | stop_gained | 0.97 | 0 |
18:51048733:A | W99* | stop_gained | 0.97 | 0 |
18:51067120:A | L414* | stop_gained | 0.97 | 0 |
18:51067021:A | L381* | stop_gained | 0.97 | 0 |
18:51067045:A | L389* | stop_gained | 0.97 | 0 |
18:51067120:G | L414* | stop_gained | 0.97 | 0 |
18:51065525:C | Y353S | missense_variant | 0.97 | 0 |
18:51065519:G | D351G | missense_variant | 0.97 | 0 |
18:51065519:C | D351A | missense_variant | 0.97 | 0 |
18:51065525:T | Y353F | missense_variant | 0.97 | 0 |
18:51065525:G | Y353C | missense_variant | 0.97 | 0 |
18:51065467:T | Q334* | stop_gained | 0.97 | 0 |
18:51065495:A | S343* | stop_gained | 0.97 | 0 |
18:51065495:G | S343* | stop_gained | 0.97 | 0 |
18:51065521:T | G352* | stop_gained | 0.97 | 0 |
18:51078262:G | S485* | stop_gained | 0.96 | 0 |
18:51078262:A | S485* | stop_gained | 0.96 | 0 |
18:51078273:T | G489* | stop_gained | 0.96 | 0 |
18:51065587:T | E374* | stop_gained | 0.96 | 0 |
18:51065473:T | G336* | stop_gained | 0.96 | 0 |
18:51065436:A | W323* | stop_gained | 0.96 | 0 |
18:51065596:T | E377* | stop_gained | 0.96 | 0 |
18:51065435:A | W323* | stop_gained | 0.96 | 0 |
18:51076750:G | S474* | stop_gained | 0.96 | 0 |
18:51076750:A | S474* | stop_gained | 0.96 | 0 |
18:51065526:G | Y353* | stop_gained | 0.96 | 0 |
18:51065526:A | Y353* | stop_gained | 0.96 | 0 |
18:51078408:T | Q534* | stop_gained | 0.95 | 0 |
18:51078417:T | D537Y | missense_variant | 0.95 | 0 |
18:51078417:A | D537N | missense_variant | 0.95 | 0 |
18:51047128:T | Q28* | stop_gained | 0.95 | 0 |
18:51047269:T | Q75* | stop_gained | 0.95 | 0 |
18:51047293:T | Q83* | stop_gained | 0.95 | 0 |
18:51067082:A | C401* | stop_gained | 0.95 | 0 |
18:51078327:T | K507* | stop_gained | 0.95 | 0 |
18:51078363:T | K519* | stop_gained | 0.95 | 0 |
18:51078366:T | E520* | stop_gained | 0.95 | 0 |
18:51067053:T | K392* | stop_gained | 0.95 | 0 |
18:51078420:T | E538* | stop_gained | 0.95 | 0 |
18:51065599:T | R378* | stop_gained | 0.95 | 0 |
18:51067185:T | K436* | stop_gained | 0.94 | 0 |
18:51067161:T | K428* | stop_gained | 0.94 | 0 |
18:51067032:T | K385* | stop_gained | 0.94 | 0 |
18:51058355:A | W268* | stop_gained | 0.94 | 0 |
18:51058356:A | W268* | stop_gained | 0.94 | 0 |
18:51065485:T | K340* | stop_gained | 0.94 | 0 |
18:51054825:T | E167* | stop_gained | 0.93 | 0 |
18:51054807:T | E161* | stop_gained | 0.93 | 0 |
18:51078418:T | D537V | missense_variant | 0.93 | 0 |
18:51078418:C | D537A | missense_variant | 0.93 | 0 |
18:51059867:A | W302* | stop_gained | 0.93 | 0 |
18:51059880:T | E307* | stop_gained | 0.93 | 0 |
18:51065428:T | E321* | stop_gained | 0.92 | 0 |
18:51058182:A | S242* | stop_gained | 0.92 | 0 |
18:51058182:G | S242* | stop_gained | 0.92 | 0 |
18:51054831:T | Q169* | stop_gained | 0.92 | 0 |
18:51067035:C | G386R | missense_variant | 0.91 | 0 |
18:51067035:T | G386C | missense_variant | 0.91 | 0 |
18:51067035:A | G386S | missense_variant | 0.91 | 0 |
18:51067036:C | G386A | missense_variant | 0.91 | 0 |
18:51058391:A | L280* | stop_gained | 0.91 | 0 |
18:51078460:A | L551* | stop_gained | 0.91 | 0 |
18:51078460:G | L551* | stop_gained | 0.91 | 0 |
18:51047207:A | L54* | stop_gained | 0.90 | 0 |
18:51047216:G | L57* | stop_gained | 0.90 | 0 |
18:51047114:A | L23* | stop_gained | 0.90 | 0 |
18:51047216:A | L57* | stop_gained | 0.90 | 0 |
18:51047279:A | L78* | stop_gained | 0.90 | 0 |
18:51047174:A | L43* | stop_gained | 0.90 | 0 |
18:51054898:A | S191* | stop_gained | 0.90 | 0 |
18:51049301:A | S144* | stop_gained | 0.90 | 0 |
18:51078453:T | Q549* | stop_gained | 0.90 | 0 |
18:51058205:T | Q250* | stop_gained | 0.90 | 0 |
18:51058223:T | Q256* | stop_gained | 0.90 | 0 |
18:51048798:A | L121* | stop_gained | 0.89 | 0 |
18:51049303:T | G145* | stop_gained | 0.89 | 0 |
18:51048798:G | L121* | stop_gained | 0.89 | 0 |
18:51058455:A | Y301* | stop_gained | 0.89 | 0 |
18:51058455:G | Y301* | stop_gained | 0.89 | 0 |
18:51048836:T | E134* | stop_gained | 0.89 | 0 |
18:51047239:T | G65* | stop_gained | 0.89 | 0 |
18:51047191:T | E49* | stop_gained | 0.89 | 0 |
18:51049315:T | Q149* | stop_gained | 0.89 | 0 |
18:51049307:G | L146* | stop_gained | 0.89 | 0 |
18:51049307:A | L146* | stop_gained | 0.89 | 0 |
18:51054838:A | S171* | stop_gained | 0.89 | 0 |
18:51065520:G | D351E | missense_variant | 0.89 | 0 |
18:51065520:A | D351E | missense_variant | 0.89 | 0 |
18:51059892:T | Q311* | stop_gained | 0.88 | 0 |
18:51054801:T | K159* | stop_gained | 0.88 | 0 |
18:51047158:T | R38* | stop_gained | 0.88 | 0 |
18:51058447:T | G299* | stop_gained | 0.88 | 0 |
18:51065561:A | G365D | missense_variant | 0.88 | 0 |
18:51065561:C | G365A | missense_variant | 0.88 | 0 |
18:51065561:T | G365V | missense_variant | 0.88 | 0 |
18:51047155:T | K37* | stop_gained | 0.87 | 0 |
18:51048773:T | K113* | stop_gained | 0.87 | 0 |
18:51054928:G | L201* | stop_gained | 0.87 | 0 |
18:51054928:A | L201* | stop_gained | 0.87 | 0 |
18:51054849:T | E175* | stop_gained | 0.87 | 0 |
18:51054903:T | E193* | stop_gained | 0.87 | 0 |
18:51054939:T | E205* | stop_gained | 0.87 | 0 |
18:51047182:T | K46* | stop_gained | 0.87 | 0 |
18:51047188:T | K48* | stop_gained | 0.87 | 0 |
18:51047194:T | K50* | stop_gained | 0.87 | 0 |
18:51047197:T | K51* | stop_gained | 0.87 | 0 |
18:51047254:T | K70* | stop_gained | 0.87 | 0 |
18:51048764:T | K110* | stop_gained | 0.87 | 0 |
18:51048752:T | K106* | stop_gained | 0.87 | 0 |
18:51048800:T | K122* | stop_gained | 0.87 | 0 |
18:51048698:T | K88* | stop_gained | 0.87 | 0 |
18:51058211:T | G252* | stop_gained | 0.87 | 0 |
18:51058163:T | G236* | stop_gained | 0.87 | 0 |
18:51058160:T | E235* | stop_gained | 0.87 | 0 |
18:51054864:T | Q180* | stop_gained | 0.87 | 0 |
18:51054873:T | Q183* | stop_gained | 0.87 | 0 |
18:51047179:T | K45* | stop_gained | 0.87 | 0 |
18:51054859:A | S178* | stop_gained | 0.87 | 0 |
18:51048854:T | G140* | stop_gained | 0.86 | 0 |
18:51058360:T | G270* | stop_gained | 0.86 | 0 |
18:51058196:T | G247* | stop_gained | 0.85 | 0 |
18:51058202:T | Q249* | stop_gained | 0.85 | 0 |
18:51058127:T | Q224* | stop_gained | 0.84 | 0 |
18:51054852:T | G176* | stop_gained | 0.84 | 0 |
18:51058402:T | Q284* | stop_gained | 0.83 | 0 |
18:51058170:A | L238* | stop_gained | 0.83 | 0 |
18:51067068:A | V397I | missense_variant | 0.81 | 0 |
18:51067068:T | V397F | missense_variant | 0.81 | 0 |
18:51067072:C | W398S | missense_variant | 0.81 | 0 |
18:51067072:T | W398L | missense_variant | 0.81 | 0 |
18:51067073:C | W398C | missense_variant | 0.81 | 0 |
18:51067073:T | W398C | missense_variant | 0.81 | 0 |
18:51067078:A | R400K | missense_variant | 0.81 | 0 |
18:51067078:C | R400T | missense_variant | 0.81 | 0 |
18:51067078:T | R400M | missense_variant | 0.81 | 0 |
18:51067081:A | C401Y | missense_variant | 0.81 | 0 |
18:51067081:C | C401S | missense_variant | 0.81 | 0 |
18:51067081:T | C401F | missense_variant | 0.81 | 0 |
18:51067087:A | S403N | missense_variant | 0.81 | 0 |
18:51067087:C | S403T | missense_variant | 0.81 | 0 |
18:51067087:T | S403I | missense_variant | 0.81 | 0 |
18:51067089:A | D404N | missense_variant | 0.81 | 0 |
18:51067089:C | D404H | missense_variant | 0.81 | 0 |
18:51067089:T | D404Y | missense_variant | 0.81 | 0 |
18:51067095:C | A406P | missense_variant | 0.81 | 0 |
18:51067095:T | A406S | missense_variant | 0.81 | 0 |
18:51067098:A | V407I | missense_variant | 0.81 | 0 |
18:51067098:C | V407L | missense_variant | 0.81 | 0 |
18:51067098:T | V407F | missense_variant | 0.81 | 0 |
18:51067104:A | V409I | missense_variant | 0.81 | 0 |
18:51067104:C | V409L | missense_variant | 0.81 | 0 |
18:51067104:T | V409L | missense_variant | 0.81 | 0 |
18:51067111:A | S411N | missense_variant | 0.81 | 0 |
18:51067111:C | S411T | missense_variant | 0.81 | 0 |
18:51067111:T | S411I | missense_variant | 0.81 | 0 |
18:51067122:A | D415N | missense_variant | 0.81 | 0 |
18:51067122:C | D415H | missense_variant | 0.81 | 0 |
18:51067122:T | D415Y | missense_variant | 0.81 | 0 |
18:51067126:A | R416K | missense_variant | 0.81 | 0 |
18:51067126:C | R416T | missense_variant | 0.81 | 0 |
18:51067126:T | R416I | missense_variant | 0.81 | 0 |
18:51067128:A | E417K | missense_variant | 0.81 | 0 |
18:51067128:C | E417Q | missense_variant | 0.81 | 0 |
18:51067131:A | A418T | missense_variant | 0.81 | 0 |
18:51067131:C | A418P | missense_variant | 0.81 | 0 |
18:51067131:T | A418S | missense_variant | 0.81 | 0 |
18:51067134:A | G419R | missense_variant | 0.81 | 0 |
18:51067134:C | G419R | missense_variant | 0.81 | 0 |
18:51067134:T | G419W | missense_variant | 0.81 | 0 |
18:51067135:A | G419E | missense_variant | 0.81 | 0 |
18:51067135:C | G419A | missense_variant | 0.81 | 0 |
18:51067135:T | G419V | missense_variant | 0.81 | 0 |
18:51067138:A | R420H | missense_variant | 0.81 | 0 |
18:51067138:C | R420P | missense_variant | 0.81 | 0 |
18:51067138:T | R420L | missense_variant | 0.81 | 0 |
18:51067140:A | A421T | missense_variant | 0.81 | 0 |
18:51067140:C | A421P | missense_variant | 0.81 | 0 |
18:51067140:T | A421S | missense_variant | 0.81 | 0 |
18:51067146:A | G423R | missense_variant | 0.81 | 0 |
18:51067146:C | G423R | missense_variant | 0.81 | 0 |
18:51067147:C | G423A | missense_variant | 0.81 | 0 |
18:51067147:T | G423V | missense_variant | 0.81 | 0 |
18:51067149:A | D424N | missense_variant | 0.81 | 0 |
18:51067149:C | D424H | missense_variant | 0.81 | 0 |
18:51067149:T | D424Y | missense_variant | 0.81 | 0 |
18:51067029:A | G384S | missense_variant | 0.81 | 0 |
18:51067029:C | G384R | missense_variant | 0.81 | 0 |
18:51067029:T | G384C | missense_variant | 0.81 | 0 |
18:51067030:A | G384D | missense_variant | 0.81 | 0 |
18:51067030:C | G384A | missense_variant | 0.81 | 0 |
18:51067030:T | G384V | missense_variant | 0.81 | 0 |
18:51067038:A | V387M | missense_variant | 0.81 | 0 |
18:51067038:C | V387L | missense_variant | 0.81 | 0 |
18:51067038:T | V387L | missense_variant | 0.81 | 0 |
18:51067047:A | E390K | missense_variant | 0.81 | 0 |
18:51067051:A | C391Y | missense_variant | 0.81 | 0 |
18:51067051:C | C391S | missense_variant | 0.81 | 0 |
18:51067051:T | C391F | missense_variant | 0.81 | 0 |
18:51067056:A | G393S | missense_variant | 0.81 | 0 |
18:51067056:C | G393R | missense_variant | 0.81 | 0 |
18:51067056:T | G393C | missense_variant | 0.81 | 0 |
18:51067057:A | G393D | missense_variant | 0.81 | 0 |
18:51067057:C | G393A | missense_variant | 0.81 | 0 |
18:51067057:T | G393V | missense_variant | 0.81 | 0 |
18:51067059:A | E394K | missense_variant | 0.81 | 0 |
18:51067059:C | E394Q | missense_variant | 0.81 | 0 |
18:51067062:A | G395S | missense_variant | 0.81 | 0 |
18:51067062:C | G395R | missense_variant | 0.81 | 0 |
18:51067062:T | G395C | missense_variant | 0.81 | 0 |
18:51067063:A | G395D | missense_variant | 0.81 | 0 |
18:51067063:C | G395A | missense_variant | 0.81 | 0 |
18:51067063:T | G395V | missense_variant | 0.81 | 0 |
18:51067065:C | D396H | missense_variant | 0.81 | 0 |
18:51067065:T | D396Y | missense_variant | 0.81 | 0 |
18:51067068:C | V397L | missense_variant | 0.81 | 0 |
18:51065451:A | Y328* | stop_gained | 0.78 | 0 |
18:51065451:G | Y328* | stop_gained | 0.78 | 0 |
18:51067181:A | Y434* | stop_gained | 0.78 | 0 |
18:51067181:G | Y434* | stop_gained | 0.78 | 0 |
18:51065560:A | G365S | missense_variant | 0.77 | 0 |
18:51065560:C | G365R | missense_variant | 0.77 | 0 |
18:51065560:T | G365C | missense_variant | 0.77 | 0 |
18:51065530:T | D355Y | missense_variant | 0.77 | 0 |
18:51065530:A | D355N | missense_variant | 0.77 | 0 |
18:51065530:C | D355H | missense_variant | 0.77 | 0 |
18:51076658:A | C443* | stop_gained | 0.76 | 0 |
18:51065433:A | Y322* | stop_gained | 0.76 | 0 |
18:51065433:G | Y322* | stop_gained | 0.76 | 0 |
18:51067169:G | Y430* | stop_gained | 0.76 | 0 |
18:51067169:A | Y430* | stop_gained | 0.76 | 0 |
18:51054787:A | S154* | stop_gained | 0.76 | 0 |
18:51054787:G | S154* | stop_gained | 0.76 | 0 |
18:51065502:A | C345* | stop_gained | 0.76 | 0 |
18:51067118:G | Y413* | stop_gained | 0.76 | 0 |
18:51067118:A | Y413* | stop_gained | 0.76 | 0 |
18:51067125:T | R416* | stop_gained | 0.75 | 0 |
18:51078377:A | C523* | stop_gained | 0.75 | 0 |
18:51065439:A | C324* | stop_gained | 0.75 | 0 |
18:51078305:A | C499* | stop_gained | 0.75 | 0 |
18:51078347:G | Y513* | stop_gained | 0.75 | 0 |
18:51078347:A | Y513* | stop_gained | 0.75 | 0 |
18:51067115:G | Y412* | stop_gained | 0.75 | 0 |
18:51067115:A | Y412* | stop_gained | 0.75 | 0 |
18:51067052:A | C391* | stop_gained | 0.75 | 0 |
18:51078351:T | R515* | stop_gained | 0.75 | 0 |
18:51078419:A | D537E | missense_variant | 0.73 | 0 |
18:51078419:G | D537E | missense_variant | 0.73 | 0 |
18:51047272:T | R76* | stop_gained | 0.69 | 0 |
18:51065536:A | S357T | missense_variant | 0.67 | 0 |
18:51065536:C | S357P | missense_variant | 0.67 | 0 |
18:51065536:G | S357A | missense_variant | 0.67 | 0 |
18:51065558:C | L364S | missense_variant | 0.67 | 0 |
18:51065558:G | L364W | missense_variant | 0.67 | 0 |
18:51065551:A | F362I | missense_variant | 0.67 | 0 |
18:51065551:C | F362L | missense_variant | 0.67 | 0 |
18:51065551:G | F362V | missense_variant | 0.67 | 0 |
18:51065552:A | F362Y | missense_variant | 0.67 | 0 |
18:51065552:C | F362S | missense_variant | 0.67 | 0 |
18:51065552:G | F362C | missense_variant | 0.67 | 0 |
18:51065567:C | L367P | missense_variant | 0.67 | 0 |
18:51065567:A | L367H | missense_variant | 0.67 | 0 |
18:51065567:G | L367R | missense_variant | 0.67 | 0 |
18:51065531:G | D355G | missense_variant | 0.67 | 0 |
18:51065531:C | D355A | missense_variant | 0.67 | 0 |
18:51065531:T | D355V | missense_variant | 0.67 | 0 |
18:51048835:G | Y133* | stop_gained | 0.65 | 0 |
18:51048835:A | Y133* | stop_gained | 0.65 | 0 |
18:51058237:A | Y260* | stop_gained | 0.65 | 0 |
18:51058237:G | Y260* | stop_gained | 0.65 | 0 |
18:51065522:T | G352V | missense_variant | 0.65 | 0 |
18:51065522:C | G352A | missense_variant | 0.65 | 0 |
18:51065522:A | G352E | missense_variant | 0.65 | 0 |
18:51048721:G | Y95* | stop_gained | 0.64 | 0 |
18:51058199:T | Q248* | stop_gained | 0.64 | 0 |
18:51048721:A | Y95* | stop_gained | 0.64 | 0 |
18:51054812:G | Y162* | stop_gained | 0.64 | 0 |
18:51054812:A | Y162* | stop_gained | 0.64 | 0 |
18:51048778:A | Y114* | stop_gained | 0.63 | 0 |
18:51048778:G | Y114* | stop_gained | 0.63 | 0 |
18:51058172:T | Q239* | stop_gained | 0.63 | 0 |
18:51054841:A | L172* | stop_gained | 0.63 | 0 |
18:51048839:T | R135* | stop_gained | 0.63 | 0 |
18:51048805:A | C123* | stop_gained | 0.63 | 0 |
18:51047259:A | C71* | stop_gained | 0.63 | 0 |
18:51047094:A | C16* | stop_gained | 0.62 | 0 |
18:51054828:T | G168* | stop_gained | 0.62 | 0 |
18:51048787:G | Y117* | stop_gained | 0.62 | 0 |
18:51048787:A | Y117* | stop_gained | 0.62 | 0 |
18:51047121:A | C25* | stop_gained | 0.62 | 0 |
18:51048817:A | C127* | stop_gained | 0.61 | 0 |
18:51048781:A | C115* | stop_gained | 0.61 | 0 |
18:51058380:G | Y276* | stop_gained | 0.61 | 0 |
18:51058380:A | Y276* | stop_gained | 0.61 | 0 |
18:51047125:T | R27* | stop_gained | 0.61 | 0 |
18:51048829:A | Y131* | stop_gained | 0.61 | 0 |
18:51048829:G | Y131* | stop_gained | 0.61 | 0 |
18:51054911:G | Y195* | stop_gained | 0.61 | 0 |
18:51054911:A | Y195* | stop_gained | 0.61 | 0 |
18:51065516:A | V350D | missense_variant | 0.59 | 0 |
18:51065516:G | V350G | missense_variant | 0.59 | 0 |
18:51065516:C | V350A | missense_variant | 0.59 | 0 |
18:51067027:A | I383K | missense_variant | 0.58 | 0 |
18:51067027:C | I383T | missense_variant | 0.58 | 0 |
18:51067027:G | I383R | missense_variant | 0.58 | 0 |
18:51065540:C | G358A | missense_variant | 0.55 | 0 |
18:51065540:A | G358E | missense_variant | 0.55 | 0 |
18:51065539:C | G358R | missense_variant | 0.55 | 0 |
18:51065539:A | G358R | missense_variant | 0.55 | 0 |
18:51065545:T | D360Y | missense_variant | 0.55 | 0 |
18:51065545:C | D360H | missense_variant | 0.55 | 0 |
18:51065545:A | D360N | missense_variant | 0.55 | 0 |
18:51065543:T | G359V | missense_variant | 0.55 | 0 |
18:51065543:C | G359A | missense_variant | 0.55 | 0 |
18:51065543:A | G359E | missense_variant | 0.55 | 0 |
18:51065542:C | G359R | missense_variant | 0.55 | 0 |
18:51065542:A | G359R | missense_variant | 0.55 | 0 |
18:51065540:T | G358V | missense_variant | 0.55 | 0 |
18:51047099:A | S18N | missense_variant | 0.53 | 0 |
18:51047099:C | S18T | missense_variant | 0.53 | 0 |
18:51047099:T | S18I | missense_variant | 0.53 | 0 |
18:51047081:C | S12T | missense_variant | 0.53 | 0 |
18:51047081:T | S12I | missense_variant | 0.53 | 0 |
18:51047086:A | D14N | missense_variant | 0.53 | 0 |
18:51048686:A | V84M | missense_variant | 0.53 | 0 |
18:51048696:C | R87P | missense_variant | 0.53 | 0 |
18:51048696:A | R87Q | missense_variant | 0.53 | 0 |
18:51048686:C | V84L | missense_variant | 0.53 | 0 |
18:51048686:T | V84L | missense_variant | 0.53 | 0 |
18:51048696:T | R87L | missense_variant | 0.53 | 0 |
18:51048701:A | G89R | missense_variant | 0.53 | 0 |
18:51048701:C | G89R | missense_variant | 0.53 | 0 |
18:51047086:C | D14H | missense_variant | 0.53 | 0 |
18:51047086:T | D14Y | missense_variant | 0.53 | 0 |
18:51047089:A | A15T | missense_variant | 0.53 | 0 |
18:51047089:C | A15P | missense_variant | 0.53 | 0 |
18:51047089:T | A15S | missense_variant | 0.53 | 0 |
18:51047093:A | C16Y | missense_variant | 0.53 | 0 |
18:51047093:C | C16S | missense_variant | 0.53 | 0 |
18:51047093:T | C16F | missense_variant | 0.53 | 0 |
18:51047081:A | S12N | missense_variant | 0.53 | 0 |
18:51048812:A | V126I | missense_variant | 0.53 | 0 |
18:51047104:A | V20M | missense_variant | 0.53 | 0 |
18:51047104:C | V20L | missense_variant | 0.53 | 0 |
18:51047104:T | V20L | missense_variant | 0.53 | 0 |
18:51047111:A | S22N | missense_variant | 0.53 | 0 |
18:51047111:C | S22T | missense_variant | 0.53 | 0 |
18:51047111:T | S22I | missense_variant | 0.53 | 0 |
18:51047118:A | M24I | missense_variant | 0.53 | 0 |
18:51047118:C | M24I | missense_variant | 0.53 | 0 |
18:51047118:T | M24I | missense_variant | 0.53 | 0 |
18:51047120:A | C25Y | missense_variant | 0.53 | 0 |
18:51047120:C | C25S | missense_variant | 0.53 | 0 |
18:51047120:T | C25F | missense_variant | 0.53 | 0 |
18:51047131:A | G29S | missense_variant | 0.53 | 0 |
18:51047131:C | G29R | missense_variant | 0.53 | 0 |
18:51047131:T | G29C | missense_variant | 0.53 | 0 |
18:51047132:A | G29D | missense_variant | 0.53 | 0 |
18:51047132:C | G29A | missense_variant | 0.53 | 0 |
18:51047132:T | G29V | missense_variant | 0.53 | 0 |
18:51047134:A | G30R | missense_variant | 0.53 | 0 |
18:51047134:C | G30R | missense_variant | 0.53 | 0 |
18:51047137:A | E31K | missense_variant | 0.53 | 0 |
18:51047137:C | E31Q | missense_variant | 0.53 | 0 |
18:51047143:A | E33K | missense_variant | 0.53 | 0 |
18:51047143:C | E33Q | missense_variant | 0.53 | 0 |
18:51047161:A | A39T | missense_variant | 0.53 | 0 |
18:51047161:C | A39P | missense_variant | 0.53 | 0 |
18:51047161:T | A39S | missense_variant | 0.53 | 0 |
18:51047167:A | E41K | missense_variant | 0.53 | 0 |
18:51047167:C | E41Q | missense_variant | 0.53 | 0 |
18:51047176:A | V44I | missense_variant | 0.53 | 0 |
18:51047176:C | V44L | missense_variant | 0.53 | 0 |
18:51047176:T | V44L | missense_variant | 0.53 | 0 |
18:51047200:A | D52N | missense_variant | 0.53 | 0 |
18:51047200:C | D52H | missense_variant | 0.53 | 0 |
18:51047200:T | D52Y | missense_variant | 0.53 | 0 |
18:51047203:A | E53K | missense_variant | 0.53 | 0 |
18:51047203:C | E53Q | missense_variant | 0.53 | 0 |
18:51047209:A | D55N | missense_variant | 0.53 | 0 |
18:51047209:C | D55H | missense_variant | 0.53 | 0 |
18:51047209:T | D55Y | missense_variant | 0.53 | 0 |
18:51047224:A | A60T | missense_variant | 0.53 | 0 |
18:51047224:C | A60P | missense_variant | 0.53 | 0 |
18:51047224:T | A60S | missense_variant | 0.53 | 0 |
18:51047242:A | A66T | missense_variant | 0.53 | 0 |
18:51047242:C | A66P | missense_variant | 0.53 | 0 |
18:51047242:T | A66S | missense_variant | 0.53 | 0 |
18:51047252:A | S69N | missense_variant | 0.53 | 0 |
18:51047252:C | S69T | missense_variant | 0.53 | 0 |
18:51047252:T | S69I | missense_variant | 0.53 | 0 |
18:51047258:A | C71Y | missense_variant | 0.53 | 0 |
18:51047258:C | C71S | missense_variant | 0.53 | 0 |
18:51047258:T | C71F | missense_variant | 0.53 | 0 |
18:51047260:A | V72I | missense_variant | 0.53 | 0 |
18:51047260:C | V72L | missense_variant | 0.53 | 0 |
18:51047260:T | V72F | missense_variant | 0.53 | 0 |
18:51047273:A | R76K | missense_variant | 0.53 | 0 |
18:51047273:C | R76T | missense_variant | 0.53 | 0 |
18:51047273:T | R76I | missense_variant | 0.53 | 0 |
18:51047281:A | D79N | missense_variant | 0.53 | 0 |
18:51047281:C | D79H | missense_variant | 0.53 | 0 |
18:51047281:T | D79Y | missense_variant | 0.53 | 0 |
18:51047284:A | G80R | missense_variant | 0.53 | 0 |
18:51047284:C | G80R | missense_variant | 0.53 | 0 |
18:51047284:T | G80W | missense_variant | 0.53 | 0 |
18:51047285:A | G80E | missense_variant | 0.53 | 0 |
18:51047285:C | G80A | missense_variant | 0.53 | 0 |
18:51047285:T | G80V | missense_variant | 0.53 | 0 |
18:51047288:A | R81K | missense_variant | 0.53 | 0 |
18:51047288:C | R81T | missense_variant | 0.53 | 0 |
18:51047288:T | R81M | missense_variant | 0.53 | 0 |
18:51048713:A | V93M | missense_variant | 0.53 | 0 |
18:51048713:C | V93L | missense_variant | 0.53 | 0 |
18:51048713:T | V93L | missense_variant | 0.53 | 0 |
18:51048726:A | R97H | missense_variant | 0.53 | 0 |
18:51048726:C | R97P | missense_variant | 0.53 | 0 |
18:51048726:T | R97L | missense_variant | 0.53 | 0 |
18:51048732:C | W99S | missense_variant | 0.53 | 0 |
18:51048732:T | W99L | missense_variant | 0.53 | 0 |
18:51048733:C | W99C | missense_variant | 0.53 | 0 |
18:51048733:T | W99C | missense_variant | 0.53 | 0 |
18:51048735:A | R100K | missense_variant | 0.53 | 0 |
18:51048735:C | R100T | missense_variant | 0.53 | 0 |
18:51048735:T | R100M | missense_variant | 0.53 | 0 |
18:51048738:C | W101S | missense_variant | 0.53 | 0 |
18:51048738:T | W101L | missense_variant | 0.53 | 0 |
18:51048739:C | W101C | missense_variant | 0.53 | 0 |
18:51048739:T | W101C | missense_variant | 0.53 | 0 |
18:51048743:A | D103N | missense_variant | 0.53 | 0 |
18:51048743:C | D103H | missense_variant | 0.53 | 0 |
18:51048743:T | D103Y | missense_variant | 0.53 | 0 |
18:51048758:A | E108K | missense_variant | 0.53 | 0 |
18:51048758:C | E108Q | missense_variant | 0.53 | 0 |
18:51048780:A | C115Y | missense_variant | 0.53 | 0 |
18:51048780:C | C115S | missense_variant | 0.53 | 0 |
18:51048780:T | C115F | missense_variant | 0.53 | 0 |
18:51048794:A | D120N | missense_variant | 0.53 | 0 |
18:51048794:C | D120H | missense_variant | 0.53 | 0 |
18:51048794:T | D120Y | missense_variant | 0.53 | 0 |
18:51048812:C | V126L | missense_variant | 0.53 | 0 |
18:51048812:T | V126F | missense_variant | 0.53 | 0 |
18:51048816:A | C127Y | missense_variant | 0.53 | 0 |
18:51048816:C | C127S | missense_variant | 0.53 | 0 |
18:51048816:T | C127F | missense_variant | 0.53 | 0 |
18:51048840:A | R135Q | missense_variant | 0.53 | 0 |
18:51048840:C | R135P | missense_variant | 0.53 | 0 |
18:51048840:T | R135L | missense_variant | 0.53 | 0 |
18:51048842:A | V136I | missense_variant | 0.53 | 0 |
18:51048842:C | V136L | missense_variant | 0.53 | 0 |
18:51048842:T | V136F | missense_variant | 0.53 | 0 |
18:51048845:A | V137I | missense_variant | 0.53 | 0 |
18:51048845:C | V137L | missense_variant | 0.53 | 0 |
18:51048845:T | V137L | missense_variant | 0.53 | 0 |
18:51048855:A | G140E | missense_variant | 0.53 | 0 |
18:51048855:C | G140A | missense_variant | 0.53 | 0 |
18:51048855:T | G140V | missense_variant | 0.53 | 0 |
18:51048860:A | D142N | missense_variant | 0.53 | 0 |
18:51048860:C | D142H | missense_variant | 0.53 | 0 |
18:51048860:T | D142Y | missense_variant | 0.53 | 0 |
18:51065537:T | S357F | missense_variant | 0.52 | 0 |
18:51065537:G | S357C | missense_variant | 0.52 | 0 |
18:51065537:A | S357Y | missense_variant | 0.52 | 0 |
18:51065563:G | Q366E | missense_variant | 0.52 | 0 |
18:51065566:T | L367F | missense_variant | 0.52 | 0 |
18:51065563:A | Q366K | missense_variant | 0.52 | 0 |
18:51065566:G | L367V | missense_variant | 0.52 | 0 |
18:51065566:A | L367I | missense_variant | 0.52 | 0 |
18:51076713:C | A462P | missense_variant | 0.52 | 0 |
18:51076713:T | A462S | missense_variant | 0.52 | 0 |
18:51076719:A | A464T | missense_variant | 0.52 | 0 |
18:51076719:C | A464P | missense_variant | 0.52 | 0 |
18:51076719:T | A464S | missense_variant | 0.52 | 0 |
18:51076722:A | V465M | missense_variant | 0.52 | 0 |
18:51076722:C | V465L | missense_variant | 0.52 | 0 |
18:51076722:T | V465L | missense_variant | 0.52 | 0 |
18:51076725:A | A466T | missense_variant | 0.52 | 0 |
18:51076725:C | A466P | missense_variant | 0.52 | 0 |
18:51076725:T | A466S | missense_variant | 0.52 | 0 |
18:51076728:A | G467R | missense_variant | 0.52 | 0 |
18:51076728:C | G467R | missense_variant | 0.52 | 0 |
18:51076698:C | A457P | missense_variant | 0.52 | 0 |
18:51076729:A | G467E | missense_variant | 0.52 | 0 |
18:51076729:C | G467A | missense_variant | 0.52 | 0 |
18:51076729:T | G467V | missense_variant | 0.52 | 0 |
18:51076740:A | G471S | missense_variant | 0.52 | 0 |
18:51076740:C | G471R | missense_variant | 0.52 | 0 |
18:51076740:T | G471C | missense_variant | 0.52 | 0 |
18:51076741:A | G471D | missense_variant | 0.52 | 0 |
18:51076741:C | G471A | missense_variant | 0.52 | 0 |
18:51076741:T | G471V | missense_variant | 0.52 | 0 |
18:51076746:A | G473R | missense_variant | 0.52 | 0 |
18:51076746:C | G473R | missense_variant | 0.52 | 0 |
18:51076698:A | A457T | missense_variant | 0.52 | 0 |
18:51076747:A | G473E | missense_variant | 0.52 | 0 |
18:51076747:C | G473A | missense_variant | 0.52 | 0 |
18:51076747:T | G473V | missense_variant | 0.52 | 0 |
18:51076695:T | A456S | missense_variant | 0.52 | 0 |
18:51076695:C | A456P | missense_variant | 0.52 | 0 |
18:51076752:A | V475I | missense_variant | 0.52 | 0 |
18:51076752:C | V475L | missense_variant | 0.52 | 0 |
18:51076752:T | V475L | missense_variant | 0.52 | 0 |
18:51076755:A | G476S | missense_variant | 0.52 | 0 |
18:51076755:C | G476R | missense_variant | 0.52 | 0 |
18:51076755:T | G476C | missense_variant | 0.52 | 0 |
18:51076756:A | G476D | missense_variant | 0.52 | 0 |
18:51076756:C | G476A | missense_variant | 0.52 | 0 |
18:51076756:T | G476V | missense_variant | 0.52 | 0 |
18:51076758:A | G477R | missense_variant | 0.52 | 0 |
18:51076758:C | G477R | missense_variant | 0.52 | 0 |
18:51076695:A | A456T | missense_variant | 0.52 | 0 |
18:51076759:A | G477E | missense_variant | 0.52 | 0 |
18:51076759:C | G477A | missense_variant | 0.52 | 0 |
18:51076759:T | G477V | missense_variant | 0.52 | 0 |
18:51076764:A | A479T | missense_variant | 0.52 | 0 |
18:51076764:C | A479P | missense_variant | 0.52 | 0 |
18:51076764:T | A479S | missense_variant | 0.52 | 0 |
18:51076770:A | A481T | missense_variant | 0.52 | 0 |
18:51076770:C | A481P | missense_variant | 0.52 | 0 |
18:51076770:T | A481S | missense_variant | 0.52 | 0 |
18:51076689:T | A454S | missense_variant | 0.52 | 0 |
18:51076689:C | A454P | missense_variant | 0.52 | 0 |
18:51076689:A | A454T | missense_variant | 0.52 | 0 |
18:51076683:T | A452S | missense_variant | 0.52 | 0 |
18:51076683:C | A452P | missense_variant | 0.52 | 0 |
18:51078304:A | C499Y | missense_variant | 0.52 | 0 |
18:51078304:C | C499S | missense_variant | 0.52 | 0 |
18:51078304:T | C499F | missense_variant | 0.52 | 0 |
18:51076683:A | A452T | missense_variant | 0.52 | 0 |
18:51078313:A | R502K | missense_variant | 0.52 | 0 |
18:51078313:C | R502T | missense_variant | 0.52 | 0 |
18:51078313:T | R502M | missense_variant | 0.52 | 0 |
18:51078317:A | M503I | missense_variant | 0.52 | 0 |
18:51078317:C | M503I | missense_variant | 0.52 | 0 |
18:51078317:T | M503I | missense_variant | 0.52 | 0 |
18:51078319:A | S504N | missense_variant | 0.52 | 0 |
18:51078319:C | S504T | missense_variant | 0.52 | 0 |
18:51078319:T | S504I | missense_variant | 0.52 | 0 |
18:51078324:A | V506M | missense_variant | 0.52 | 0 |
18:51078324:C | V506L | missense_variant | 0.52 | 0 |
18:51078324:T | V506L | missense_variant | 0.52 | 0 |
18:51076670:T | M447I | missense_variant | 0.52 | 0 |
18:51078330:A | G508S | missense_variant | 0.52 | 0 |
18:51078330:C | G508R | missense_variant | 0.52 | 0 |
18:51078330:T | G508C | missense_variant | 0.52 | 0 |
18:51078331:A | G508D | missense_variant | 0.52 | 0 |
18:51078331:C | G508A | missense_variant | 0.52 | 0 |
18:51078331:T | G508V | missense_variant | 0.52 | 0 |
18:51076670:C | M447I | missense_variant | 0.52 | 0 |
18:51078334:C | W509S | missense_variant | 0.52 | 0 |
18:51078334:T | W509L | missense_variant | 0.52 | 0 |
18:51076670:A | M447I | missense_variant | 0.52 | 0 |
18:51078335:C | W509C | missense_variant | 0.52 | 0 |
18:51078335:T | W509C | missense_variant | 0.52 | 0 |
18:51078336:A | G510R | missense_variant | 0.52 | 0 |
18:51078336:C | G510R | missense_variant | 0.52 | 0 |
18:51076663:T | R445L | missense_variant | 0.52 | 0 |
18:51078337:A | G510E | missense_variant | 0.52 | 0 |
18:51078337:C | G510A | missense_variant | 0.52 | 0 |
18:51078337:T | G510V | missense_variant | 0.52 | 0 |
18:51078342:A | D512N | missense_variant | 0.52 | 0 |
18:51078342:C | D512H | missense_variant | 0.52 | 0 |
18:51078342:T | D512Y | missense_variant | 0.52 | 0 |
18:51076663:C | R445P | missense_variant | 0.52 | 0 |
18:51076663:A | R445Q | missense_variant | 0.52 | 0 |
18:51076657:T | C443F | missense_variant | 0.52 | 0 |
18:51078352:A | R515K | missense_variant | 0.52 | 0 |
18:51078352:C | R515T | missense_variant | 0.52 | 0 |
18:51076701:A | A458T | missense_variant | 0.52 | 0 |
18:51076657:C | C443S | missense_variant | 0.52 | 0 |
18:51078358:A | S517N | missense_variant | 0.52 | 0 |
18:51078358:C | S517T | missense_variant | 0.52 | 0 |
18:51078358:T | S517I | missense_variant | 0.52 | 0 |
18:51076657:A | C443Y | missense_variant | 0.52 | 0 |
18:51076651:T | R441L | missense_variant | 0.52 | 0 |
18:51078376:A | C523Y | missense_variant | 0.52 | 0 |
18:51078376:C | C523S | missense_variant | 0.52 | 0 |
18:51078376:T | C523F | missense_variant | 0.52 | 0 |
18:51076651:C | R441P | missense_variant | 0.52 | 0 |
18:51076651:A | R441H | missense_variant | 0.52 | 0 |
18:51078379:C | W524S | missense_variant | 0.52 | 0 |
18:51076644:T | D439Y | missense_variant | 0.52 | 0 |
18:51076644:C | D439H | missense_variant | 0.52 | 0 |
18:51078380:C | W524C | missense_variant | 0.52 | 0 |
18:51078380:T | W524C | missense_variant | 0.52 | 0 |
18:51076644:A | D439N | missense_variant | 0.52 | 0 |
18:51078384:C | E526Q | missense_variant | 0.52 | 0 |
18:51076638:T | V437F | missense_variant | 0.52 | 0 |
18:51076638:C | V437L | missense_variant | 0.52 | 0 |
18:51076638:A | V437I | missense_variant | 0.52 | 0 |
18:51078352:T | R515I | missense_variant | 0.52 | 0 |
18:51076701:C | A458P | missense_variant | 0.52 | 0 |
18:51076701:T | A458S | missense_variant | 0.52 | 0 |
18:51076707:A | A460T | missense_variant | 0.52 | 0 |
18:51076707:C | A460P | missense_variant | 0.52 | 0 |
18:51076707:T | A460S | missense_variant | 0.52 | 0 |
18:51076698:T | A457S | missense_variant | 0.52 | 0 |
18:51076713:A | A462T | missense_variant | 0.52 | 0 |
18:51065521:C | G352R | missense_variant | 0.51 | 0 |
18:51065521:A | G352R | missense_variant | 0.51 | 0 |
18:51065515:T | V350F | missense_variant | 0.51 | 0 |
18:51065515:C | V350L | missense_variant | 0.51 | 0 |
18:51065515:A | V350I | missense_variant | 0.51 | 0 |
Cancer type | Selected cancer type | Mutational discovery Index | Feature Complexity |
---|---|---|---|
(ESCA) Esophageal cancer | ESCA | 0.38 | 0.18 |