Mutation | AA change | Consequence type | BoostDM score | IntOGen frequency |
---|---|---|---|---|
3:179218303:A | E545K | missense_variant | 1.00 | 42 |
3:179218294:A | E542K | missense_variant | 1.00 | 22 |
3:179221146:A | E726K | missense_variant | 0.96 | 6 |
3:179210291:C | E453Q | missense_variant | 0.99 | 2 |
3:179210291:A | E453K | missense_variant | 0.99 | 2 |
3:179210192:C | C420R | missense_variant | 0.94 | 2 |
3:179218303:C | E545Q | missense_variant | 1.00 | 1 |
3:179198938:A | R38H | missense_variant | 0.99 | 1 |
3:179199690:A | G118D | missense_variant | 0.99 | 1 |
3:179234297:G | H1047R | missense_variant | 0.97 | 1 |
3:179234297:T | H1047L | missense_variant | 0.97 | 1 |
3:179234298:G | H1047Q | missense_variant | 0.96 | 1 |
3:179210186:A | E418K | missense_variant | 0.96 | 1 |
3:179209698:C | E417Q | missense_variant | 0.96 | 1 |
3:179199088:A | R88Q | missense_variant | 0.94 | 1 |
3:179199066:A | E81K | missense_variant | 0.87 | 1 |
3:179199141:C | G106R | missense_variant | 0.87 | 1 |
3:179199142:T | G106V | missense_variant | 0.87 | 1 |
3:179209644:A | A399T | missense_variant | 0.86 | 1 |
3:179218307:G | Q546R | missense_variant | 0.68 | 1 |
3:179218294:C | E542Q | missense_variant | 1.00 | 0 |
3:179218309:A | E547K | missense_variant | 1.00 | 0 |
3:179218309:C | E547Q | missense_variant | 1.00 | 0 |
3:179218280:C | R537P | missense_variant | 1.00 | 0 |
3:179218282:T | D538Y | missense_variant | 1.00 | 0 |
3:179218282:C | D538H | missense_variant | 1.00 | 0 |
3:179218282:A | D538N | missense_variant | 1.00 | 0 |
3:179218280:T | R537L | missense_variant | 1.00 | 0 |
3:179218280:A | R537Q | missense_variant | 1.00 | 0 |
3:179218303:T | E545* | stop_gained | 1.00 | 0 |
3:179218294:T | E542* | stop_gained | 1.00 | 0 |
3:179218309:T | E547* | stop_gained | 1.00 | 0 |
3:179234286:A | M1043I | missense_variant | 1.00 | 0 |
3:179234286:C | M1043I | missense_variant | 1.00 | 0 |
3:179234286:T | M1043I | missense_variant | 1.00 | 0 |
3:179234303:T | G1049V | missense_variant | 1.00 | 0 |
3:179234290:A | D1045N | missense_variant | 1.00 | 0 |
3:179234290:C | D1045H | missense_variant | 1.00 | 0 |
3:179234290:T | D1045Y | missense_variant | 1.00 | 0 |
3:179234303:C | G1049A | missense_variant | 1.00 | 0 |
3:179234303:A | G1049D | missense_variant | 1.00 | 0 |
3:179234302:T | G1049C | missense_variant | 1.00 | 0 |
3:179234302:C | G1049R | missense_variant | 1.00 | 0 |
3:179234302:A | G1049S | missense_variant | 1.00 | 0 |
3:179198940:C | E39Q | missense_variant | 0.99 | 0 |
3:179198938:C | R38P | missense_variant | 0.99 | 0 |
3:179198938:T | R38L | missense_variant | 0.99 | 0 |
3:179198940:A | E39K | missense_variant | 0.99 | 0 |
3:179199177:C | G118R | missense_variant | 0.99 | 0 |
3:179199177:T | G118C | missense_variant | 0.99 | 0 |
3:179199177:A | G118S | missense_variant | 0.99 | 0 |
3:179210312:T | G460C | missense_variant | 0.99 | 0 |
3:179210294:C | D454H | missense_variant | 0.99 | 0 |
3:179210286:C | G451A | missense_variant | 0.99 | 0 |
3:179210286:T | G451V | missense_variant | 0.99 | 0 |
3:179210294:A | D454N | missense_variant | 0.99 | 0 |
3:179210312:A | G460S | missense_variant | 0.99 | 0 |
3:179210312:C | G460R | missense_variant | 0.99 | 0 |
3:179210286:A | G451E | missense_variant | 0.99 | 0 |
3:179210452:C | E476Q | missense_variant | 0.99 | 0 |
3:179210452:A | E476K | missense_variant | 0.99 | 0 |
3:179210441:T | C472F | missense_variant | 0.99 | 0 |
3:179210441:C | C472S | missense_variant | 0.99 | 0 |
3:179210441:A | C472Y | missense_variant | 0.99 | 0 |
3:179210431:C | E469Q | missense_variant | 0.99 | 0 |
3:179210431:A | E469K | missense_variant | 0.99 | 0 |
3:179210322:T | G463V | missense_variant | 0.99 | 0 |
3:179210322:C | G463A | missense_variant | 0.99 | 0 |
3:179210322:A | G463E | missense_variant | 0.99 | 0 |
3:179210321:C | G463R | missense_variant | 0.99 | 0 |
3:179210321:A | G463R | missense_variant | 0.99 | 0 |
3:179210315:T | V461F | missense_variant | 0.99 | 0 |
3:179210315:C | V461L | missense_variant | 0.99 | 0 |
3:179210315:A | V461I | missense_variant | 0.99 | 0 |
3:179210313:T | G460V | missense_variant | 0.99 | 0 |
3:179210294:T | D454Y | missense_variant | 0.99 | 0 |
3:179210313:C | G460A | missense_variant | 0.99 | 0 |
3:179210313:A | G460D | missense_variant | 0.99 | 0 |
3:179210193:C | C420S | missense_variant | 0.99 | 0 |
3:179210193:T | C420F | missense_variant | 0.99 | 0 |
3:179210193:A | C420Y | missense_variant | 0.99 | 0 |
3:179199716:C | E127Q | missense_variant | 0.99 | 0 |
3:179199690:C | G118A | missense_variant | 0.99 | 0 |
3:179199690:T | G118V | missense_variant | 0.99 | 0 |
3:179199695:A | A120T | missense_variant | 0.99 | 0 |
3:179199695:C | A120P | missense_variant | 0.99 | 0 |
3:179199695:T | A120S | missense_variant | 0.99 | 0 |
3:179199701:A | G122S | missense_variant | 0.99 | 0 |
3:179199701:C | G122R | missense_variant | 0.99 | 0 |
3:179199701:T | G122C | missense_variant | 0.99 | 0 |
3:179199702:A | G122D | missense_variant | 0.99 | 0 |
3:179199702:C | G122A | missense_variant | 0.99 | 0 |
3:179199702:T | G122V | missense_variant | 0.99 | 0 |
3:179199706:A | M123I | missense_variant | 0.99 | 0 |
3:179199706:C | M123I | missense_variant | 0.99 | 0 |
3:179199706:T | M123I | missense_variant | 0.99 | 0 |
3:179199714:A | C126Y | missense_variant | 0.99 | 0 |
3:179199714:C | C126S | missense_variant | 0.99 | 0 |
3:179199714:T | C126F | missense_variant | 0.99 | 0 |
3:179199716:A | E127K | missense_variant | 0.99 | 0 |
3:179234284:T | M1043L | missense_variant | 0.97 | 0 |
3:179234288:G | N1044S | missense_variant | 0.97 | 0 |
3:179234288:C | N1044T | missense_variant | 0.97 | 0 |
3:179234284:C | M1043L | missense_variant | 0.97 | 0 |
3:179234287:T | N1044Y | missense_variant | 0.97 | 0 |
3:179234287:G | N1044D | missense_variant | 0.97 | 0 |
3:179234288:T | N1044I | missense_variant | 0.97 | 0 |
3:179234291:C | D1045A | missense_variant | 0.97 | 0 |
3:179234291:G | D1045G | missense_variant | 0.97 | 0 |
3:179234291:T | D1045V | missense_variant | 0.97 | 0 |
3:179234297:C | H1047P | missense_variant | 0.97 | 0 |
3:179234287:C | N1044H | missense_variant | 0.97 | 0 |
3:179234284:G | M1043V | missense_variant | 0.97 | 0 |
3:179234300:T | H1048L | missense_variant | 0.97 | 0 |
3:179234300:G | H1048R | missense_variant | 0.97 | 0 |
3:179234300:C | H1048P | missense_variant | 0.97 | 0 |
3:179234293:A | A1046T | missense_variant | 0.97 | 0 |
3:179234293:C | A1046P | missense_variant | 0.97 | 0 |
3:179234293:T | A1046S | missense_variant | 0.97 | 0 |
3:179199893:A | D186N | missense_variant | 0.96 | 0 |
3:179199722:A | D129N | missense_variant | 0.96 | 0 |
3:179199722:C | D129H | missense_variant | 0.96 | 0 |
3:179199722:T | D129Y | missense_variant | 0.96 | 0 |
3:179199728:A | V131I | missense_variant | 0.96 | 0 |
3:179199728:C | V131L | missense_variant | 0.96 | 0 |
3:179199728:T | V131F | missense_variant | 0.96 | 0 |
3:179199734:A | D133N | missense_variant | 0.96 | 0 |
3:179199734:C | D133H | missense_variant | 0.96 | 0 |
3:179199734:T | D133Y | missense_variant | 0.96 | 0 |
3:179199740:A | E135K | missense_variant | 0.96 | 0 |
3:179199740:C | E135Q | missense_variant | 0.96 | 0 |
3:179199743:A | V136I | missense_variant | 0.96 | 0 |
3:179199743:C | V136L | missense_variant | 0.96 | 0 |
3:179199743:T | V136L | missense_variant | 0.96 | 0 |
3:179199749:A | D138N | missense_variant | 0.96 | 0 |
3:179199749:C | D138H | missense_variant | 0.96 | 0 |
3:179199749:T | D138Y | missense_variant | 0.96 | 0 |
3:179199756:A | R140Q | missense_variant | 0.96 | 0 |
3:179199756:C | R140P | missense_variant | 0.96 | 0 |
3:179199756:T | R140L | missense_variant | 0.96 | 0 |
3:179199773:A | V146I | missense_variant | 0.96 | 0 |
3:179199773:C | V146L | missense_variant | 0.96 | 0 |
3:179199773:T | V146F | missense_variant | 0.96 | 0 |
3:179199777:A | C147Y | missense_variant | 0.96 | 0 |
3:179199777:C | C147S | missense_variant | 0.96 | 0 |
3:179199777:T | C147F | missense_variant | 0.96 | 0 |
3:179199782:A | E149K | missense_variant | 0.96 | 0 |
3:179199782:C | E149Q | missense_variant | 0.96 | 0 |
3:179199788:A | V151M | missense_variant | 0.96 | 0 |
3:179199788:C | V151L | missense_variant | 0.96 | 0 |
3:179199788:T | V151L | missense_variant | 0.96 | 0 |
3:179199791:A | D152N | missense_variant | 0.96 | 0 |
3:179199791:C | D152H | missense_variant | 0.96 | 0 |
3:179199791:T | D152Y | missense_variant | 0.96 | 0 |
3:179199798:A | R154K | missense_variant | 0.96 | 0 |
3:179199798:C | R154T | missense_variant | 0.96 | 0 |
3:179199798:T | R154M | missense_variant | 0.96 | 0 |
3:179199819:A | S161N | missense_variant | 0.96 | 0 |
3:179199819:C | S161T | missense_variant | 0.96 | 0 |
3:179199819:T | S161I | missense_variant | 0.96 | 0 |
3:179199824:A | A163T | missense_variant | 0.96 | 0 |
3:179199824:C | A163P | missense_variant | 0.96 | 0 |
3:179199824:T | A163S | missense_variant | 0.96 | 0 |
3:179199833:A | V166I | missense_variant | 0.96 | 0 |
3:179199833:C | V166L | missense_variant | 0.96 | 0 |
3:179199833:T | V166F | missense_variant | 0.96 | 0 |
3:179199851:A | E172K | missense_variant | 0.96 | 0 |
3:179199851:C | E172Q | missense_variant | 0.96 | 0 |
3:179199863:A | E176K | missense_variant | 0.96 | 0 |
3:179199863:C | E176Q | missense_variant | 0.96 | 0 |
3:179199893:C | D186H | missense_variant | 0.96 | 0 |
3:179199893:T | D186Y | missense_variant | 0.96 | 0 |
3:179199899:A | G188R | missense_variant | 0.96 | 0 |
3:179199899:C | G188R | missense_variant | 0.96 | 0 |
3:179199899:T | G188W | missense_variant | 0.96 | 0 |
3:179210476:A | V484I | missense_variant | 0.96 | 0 |
3:179210476:C | V484L | missense_variant | 0.96 | 0 |
3:179210476:T | V484L | missense_variant | 0.96 | 0 |
3:179210488:A | D488N | missense_variant | 0.96 | 0 |
3:179210488:C | D488H | missense_variant | 0.96 | 0 |
3:179210488:T | D488Y | missense_variant | 0.96 | 0 |
3:179210503:A | E493K | missense_variant | 0.96 | 0 |
3:179210503:C | E493Q | missense_variant | 0.96 | 0 |
3:179210506:A | E494K | missense_variant | 0.96 | 0 |
3:179210506:C | E494Q | missense_variant | 0.96 | 0 |
3:179210512:A | A496T | missense_variant | 0.96 | 0 |
3:179210512:C | A496P | missense_variant | 0.96 | 0 |
3:179210512:T | A496S | missense_variant | 0.96 | 0 |
3:179210531:A | R502Q | missense_variant | 0.96 | 0 |
3:179210531:C | R502P | missense_variant | 0.96 | 0 |
3:179210531:T | R502L | missense_variant | 0.96 | 0 |
3:179210533:A | E503K | missense_variant | 0.96 | 0 |
3:179210533:C | E503Q | missense_variant | 0.96 | 0 |
3:179210539:A | G505R | missense_variant | 0.96 | 0 |
3:179210539:C | G505R | missense_variant | 0.96 | 0 |
3:179210540:A | G505E | missense_variant | 0.96 | 0 |
3:179210540:C | G505A | missense_variant | 0.96 | 0 |
3:179210540:T | G505V | missense_variant | 0.96 | 0 |
3:179218217:A | R516K | missense_variant | 0.96 | 0 |
3:179218217:C | R516T | missense_variant | 0.96 | 0 |
3:179218217:T | R516I | missense_variant | 0.96 | 0 |
3:179218222:A | A518T | missense_variant | 0.96 | 0 |
3:179218222:C | A518P | missense_variant | 0.96 | 0 |
3:179218222:T | A518S | missense_variant | 0.96 | 0 |
3:179218226:A | R519K | missense_variant | 0.96 | 0 |
3:179218226:C | R519T | missense_variant | 0.96 | 0 |
3:179218226:T | R519I | missense_variant | 0.96 | 0 |
3:179218228:A | D520N | missense_variant | 0.96 | 0 |
3:179218228:C | D520H | missense_variant | 0.96 | 0 |
3:179218228:T | D520Y | missense_variant | 0.96 | 0 |
3:179221086:A | V706I | missense_variant | 0.96 | 0 |
3:179221086:C | V706L | missense_variant | 0.96 | 0 |
3:179221086:T | V706F | missense_variant | 0.96 | 0 |
3:179221089:A | E707K | missense_variant | 0.96 | 0 |
3:179221089:C | E707Q | missense_variant | 0.96 | 0 |
3:179221092:A | A708T | missense_variant | 0.96 | 0 |
3:179221092:C | A708P | missense_variant | 0.96 | 0 |
3:179221092:T | A708S | missense_variant | 0.96 | 0 |
3:179221097:A | M709I | missense_variant | 0.96 | 0 |
3:179221097:C | M709I | missense_variant | 0.96 | 0 |
3:179221097:T | M709I | missense_variant | 0.96 | 0 |
3:179221098:A | E710K | missense_variant | 0.96 | 0 |
3:179221098:C | E710Q | missense_variant | 0.96 | 0 |
3:179221119:A | D717N | missense_variant | 0.96 | 0 |
3:179221119:C | D717H | missense_variant | 0.96 | 0 |
3:179221119:T | D717Y | missense_variant | 0.96 | 0 |
3:179221134:A | E722K | missense_variant | 0.96 | 0 |
3:179221134:C | E722Q | missense_variant | 0.96 | 0 |
3:179221143:A | D725N | missense_variant | 0.96 | 0 |
3:179221143:C | D725H | missense_variant | 0.96 | 0 |
3:179221143:T | D725Y | missense_variant | 0.96 | 0 |
3:179221146:C | E726Q | missense_variant | 0.96 | 0 |
3:179221157:C | K729N | missense_variant | 0.96 | 0 |
3:179221157:T | K729N | missense_variant | 0.96 | 0 |
3:179234285:C | M1043T | missense_variant | 0.96 | 0 |
3:179234285:G | M1043R | missense_variant | 0.96 | 0 |
3:179234285:A | M1043K | missense_variant | 0.96 | 0 |
3:179234292:A | D1045E | missense_variant | 0.96 | 0 |
3:179234292:G | D1045E | missense_variant | 0.96 | 0 |
3:179234298:A | H1047Q | missense_variant | 0.96 | 0 |
3:179210206:T | W424C | missense_variant | 0.96 | 0 |
3:179210207:A | G425R | missense_variant | 0.96 | 0 |
3:179210207:C | G425R | missense_variant | 0.96 | 0 |
3:179210186:C | E418Q | missense_variant | 0.96 | 0 |
3:179210208:A | G425E | missense_variant | 0.96 | 0 |
3:179210208:C | G425A | missense_variant | 0.96 | 0 |
3:179210208:T | G425V | missense_variant | 0.96 | 0 |
3:179210225:A | D431N | missense_variant | 0.96 | 0 |
3:179210225:C | D431H | missense_variant | 0.96 | 0 |
3:179210225:T | D431Y | missense_variant | 0.96 | 0 |
3:179210243:A | V437I | missense_variant | 0.96 | 0 |
3:179210243:C | V437L | missense_variant | 0.96 | 0 |
3:179209598:C | W383C | missense_variant | 0.96 | 0 |
3:179210258:A | A442T | missense_variant | 0.96 | 0 |
3:179210258:C | A442P | missense_variant | 0.96 | 0 |
3:179210258:T | A442S | missense_variant | 0.96 | 0 |
3:179209597:C | W383S | missense_variant | 0.96 | 0 |
3:179210271:C | W446S | missense_variant | 0.96 | 0 |
3:179210271:T | W446L | missense_variant | 0.96 | 0 |
3:179209597:T | W383L | missense_variant | 0.96 | 0 |
3:179210272:C | W446C | missense_variant | 0.96 | 0 |
3:179210272:T | W446C | missense_variant | 0.96 | 0 |
3:179210276:A | V448I | missense_variant | 0.96 | 0 |
3:179210276:C | V448L | missense_variant | 0.96 | 0 |
3:179210276:T | V448L | missense_variant | 0.96 | 0 |
3:179210285:A | G451R | missense_variant | 0.96 | 0 |
3:179210285:C | G451R | missense_variant | 0.96 | 0 |
3:179209606:C | W386S | missense_variant | 0.96 | 0 |
3:179209606:T | W386L | missense_variant | 0.96 | 0 |
3:179210243:T | V437L | missense_variant | 0.96 | 0 |
3:179209598:T | W383C | missense_variant | 0.96 | 0 |
3:179209602:A | E385K | missense_variant | 0.96 | 0 |
3:179210205:T | W424L | missense_variant | 0.96 | 0 |
3:179209602:C | E385Q | missense_variant | 0.96 | 0 |
3:179210206:C | W424C | missense_variant | 0.96 | 0 |
3:179209617:A | D390N | missense_variant | 0.96 | 0 |
3:179209617:C | D390H | missense_variant | 0.96 | 0 |
3:179210205:C | W424S | missense_variant | 0.96 | 0 |
3:179210201:T | A423S | missense_variant | 0.96 | 0 |
3:179210201:C | A423P | missense_variant | 0.96 | 0 |
3:179210201:A | A423T | missense_variant | 0.96 | 0 |
3:179209617:T | D390Y | missense_variant | 0.96 | 0 |
3:179209632:A | D395N | missense_variant | 0.96 | 0 |
3:179210468:A | S481N | missense_variant | 0.96 | 0 |
3:179210468:C | S481T | missense_variant | 0.96 | 0 |
3:179210468:T | S481I | missense_variant | 0.96 | 0 |
3:179209657:T | C403F | missense_variant | 0.96 | 0 |
3:179209657:C | C403S | missense_variant | 0.96 | 0 |
3:179209657:A | C403Y | missense_variant | 0.96 | 0 |
3:179209647:T | A400S | missense_variant | 0.96 | 0 |
3:179209647:C | A400P | missense_variant | 0.96 | 0 |
3:179209647:A | A400T | missense_variant | 0.96 | 0 |
3:179209642:T | R398L | missense_variant | 0.96 | 0 |
3:179209642:C | R398P | missense_variant | 0.96 | 0 |
3:179209642:A | R398H | missense_variant | 0.96 | 0 |
3:179209632:T | D395Y | missense_variant | 0.96 | 0 |
3:179209632:C | D395H | missense_variant | 0.96 | 0 |
3:179209607:C | W386C | missense_variant | 0.96 | 0 |
3:179209607:T | W386C | missense_variant | 0.96 | 0 |
3:179209689:T | G414C | missense_variant | 0.96 | 0 |
3:179209689:C | G414R | missense_variant | 0.96 | 0 |
3:179209689:A | G414S | missense_variant | 0.96 | 0 |
3:179209684:T | R412L | missense_variant | 0.96 | 0 |
3:179209684:C | R412P | missense_variant | 0.96 | 0 |
3:179209684:A | R412Q | missense_variant | 0.96 | 0 |
3:179209669:A | C407Y | missense_variant | 0.96 | 0 |
3:179209690:A | G414D | missense_variant | 0.96 | 0 |
3:179209690:C | G414A | missense_variant | 0.96 | 0 |
3:179209698:A | E417K | missense_variant | 0.96 | 0 |
3:179209681:T | G411V | missense_variant | 0.96 | 0 |
3:179209681:C | G411A | missense_variant | 0.96 | 0 |
3:179209681:A | G411D | missense_variant | 0.96 | 0 |
3:179209680:T | G411C | missense_variant | 0.96 | 0 |
3:179209680:C | G411R | missense_variant | 0.96 | 0 |
3:179209680:A | G411S | missense_variant | 0.96 | 0 |
3:179209674:T | V409F | missense_variant | 0.96 | 0 |
3:179209674:C | V409L | missense_variant | 0.96 | 0 |
3:179209690:T | G414V | missense_variant | 0.96 | 0 |
3:179209669:T | C407F | missense_variant | 0.96 | 0 |
3:179209669:C | C407S | missense_variant | 0.96 | 0 |
3:179209674:A | V409I | missense_variant | 0.96 | 0 |
3:179198979:A | E52K | missense_variant | 0.95 | 0 |
3:179199036:T | V71L | missense_variant | 0.95 | 0 |
3:179199036:C | V71L | missense_variant | 0.95 | 0 |
3:179199036:A | V71I | missense_variant | 0.95 | 0 |
3:179199018:C | E65Q | missense_variant | 0.95 | 0 |
3:179199018:A | E65K | missense_variant | 0.95 | 0 |
3:179199015:T | D64Y | missense_variant | 0.95 | 0 |
3:179199015:C | D64H | missense_variant | 0.95 | 0 |
3:179199015:A | D64N | missense_variant | 0.95 | 0 |
3:179198986:T | R54I | missense_variant | 0.95 | 0 |
3:179198986:C | R54T | missense_variant | 0.95 | 0 |
3:179198986:A | R54K | missense_variant | 0.95 | 0 |
3:179198982:T | A53S | missense_variant | 0.95 | 0 |
3:179198982:C | A53P | missense_variant | 0.95 | 0 |
3:179198982:A | A53T | missense_variant | 0.95 | 0 |
3:179198979:C | E52Q | missense_variant | 0.95 | 0 |
3:179198967:C | E48Q | missense_variant | 0.95 | 0 |
3:179198967:A | E48K | missense_variant | 0.95 | 0 |
3:179198943:T | A40S | missense_variant | 0.95 | 0 |
3:179199063:C | E80Q | missense_variant | 0.95 | 0 |
3:179199063:A | E80K | missense_variant | 0.95 | 0 |
3:179199061:T | R79M | missense_variant | 0.95 | 0 |
3:179199061:C | R79T | missense_variant | 0.95 | 0 |
3:179198943:C | A40P | missense_variant | 0.95 | 0 |
3:179198943:A | A40T | missense_variant | 0.95 | 0 |
3:179199061:A | R79K | missense_variant | 0.95 | 0 |
3:179199057:C | E78Q | missense_variant | 0.95 | 0 |
3:179199057:A | E78K | missense_variant | 0.95 | 0 |
3:179198928:A | E35K | missense_variant | 0.95 | 0 |
3:179199040:A | S72N | missense_variant | 0.95 | 0 |
3:179198928:C | E35Q | missense_variant | 0.95 | 0 |
3:179198932:A | C36Y | missense_variant | 0.95 | 0 |
3:179198932:C | C36S | missense_variant | 0.95 | 0 |
3:179198932:T | C36F | missense_variant | 0.95 | 0 |
3:179199042:T | V73F | missense_variant | 0.95 | 0 |
3:179199042:C | V73L | missense_variant | 0.95 | 0 |
3:179199042:A | V73I | missense_variant | 0.95 | 0 |
3:179199040:T | S72I | missense_variant | 0.95 | 0 |
3:179199040:C | S72T | missense_variant | 0.95 | 0 |
3:179218310:G | E547G | missense_variant | 0.95 | 0 |
3:179218310:C | E547A | missense_variant | 0.95 | 0 |
3:179218312:C | K548Q | missense_variant | 0.95 | 0 |
3:179218312:G | K548E | missense_variant | 0.95 | 0 |
3:179218310:T | E547V | missense_variant | 0.95 | 0 |
3:179218313:C | K548T | missense_variant | 0.95 | 0 |
3:179218313:G | K548R | missense_variant | 0.95 | 0 |
3:179218313:T | K548I | missense_variant | 0.95 | 0 |
3:179234296:A | H1047N | missense_variant | 0.94 | 0 |
3:179234299:G | H1048D | missense_variant | 0.94 | 0 |
3:179234299:A | H1048N | missense_variant | 0.94 | 0 |
3:179234299:T | H1048Y | missense_variant | 0.94 | 0 |
3:179234296:T | H1047Y | missense_variant | 0.94 | 0 |
3:179234296:G | H1047D | missense_variant | 0.94 | 0 |
3:179198915:C | M30I | missense_variant | 0.94 | 0 |
3:179198915:T | M30I | missense_variant | 0.94 | 0 |
3:179198915:A | M30I | missense_variant | 0.94 | 0 |
3:179199088:T | R88L | missense_variant | 0.94 | 0 |
3:179199088:C | R88P | missense_variant | 0.94 | 0 |
3:179218286:G | P539R | missense_variant | 0.94 | 0 |
3:179218286:A | P539H | missense_variant | 0.94 | 0 |
3:179218286:T | P539L | missense_variant | 0.94 | 0 |
3:179210192:G | C420G | missense_variant | 0.94 | 0 |
3:179210192:A | C420S | missense_variant | 0.94 | 0 |
3:179199094:A | C90Y | missense_variant | 0.93 | 0 |
3:179199094:T | C90F | missense_variant | 0.93 | 0 |
3:179199094:C | C90S | missense_variant | 0.93 | 0 |
3:179218285:T | P539S | missense_variant | 0.93 | 0 |
3:179218285:G | P539A | missense_variant | 0.93 | 0 |
3:179218285:A | P539T | missense_variant | 0.93 | 0 |
3:179198942:C | E39D | missense_variant | 0.92 | 0 |
3:179198942:T | E39D | missense_variant | 0.92 | 0 |
3:179199093:G | C90G | missense_variant | 0.91 | 0 |
3:179199093:A | C90S | missense_variant | 0.91 | 0 |
3:179199093:C | C90R | missense_variant | 0.91 | 0 |
3:179204576:A | C378Y | missense_variant | 0.90 | 0 |
3:179204576:T | C378F | missense_variant | 0.90 | 0 |
3:179204576:C | C378S | missense_variant | 0.90 | 0 |
3:179234289:A | N1044K | missense_variant | 0.89 | 0 |
3:179234289:G | N1044K | missense_variant | 0.89 | 0 |
3:179234301:A | H1048Q | missense_variant | 0.87 | 0 |
3:179234301:G | H1048Q | missense_variant | 0.87 | 0 |
3:179210194:G | C420W | missense_variant | 0.87 | 0 |
3:179199066:C | E81Q | missense_variant | 0.87 | 0 |
3:179199142:C | G106A | missense_variant | 0.87 | 0 |
3:179199142:A | G106D | missense_variant | 0.87 | 0 |
3:179199141:T | G106C | missense_variant | 0.87 | 0 |
3:179199141:A | G106S | missense_variant | 0.87 | 0 |
3:179219985:C | V650L | missense_variant | 0.86 | 0 |
3:179218243:A | E525K | missense_variant | 0.86 | 0 |
3:179218243:C | E525Q | missense_variant | 0.86 | 0 |
3:179218249:A | D527N | missense_variant | 0.86 | 0 |
3:179218249:C | D527H | missense_variant | 0.86 | 0 |
3:179218249:T | D527Y | missense_variant | 0.86 | 0 |
3:179218255:A | E529K | missense_variant | 0.86 | 0 |
3:179218255:C | E529Q | missense_variant | 0.86 | 0 |
3:179218315:A | D549N | missense_variant | 0.86 | 0 |
3:179218315:C | D549H | missense_variant | 0.86 | 0 |
3:179218315:T | D549Y | missense_variant | 0.86 | 0 |
3:179218325:C | W552S | missense_variant | 0.86 | 0 |
3:179218325:T | W552L | missense_variant | 0.86 | 0 |
3:179218326:C | W552C | missense_variant | 0.86 | 0 |
3:179218326:T | W552C | missense_variant | 0.86 | 0 |
3:179218328:A | S553N | missense_variant | 0.86 | 0 |
3:179218328:C | S553T | missense_variant | 0.86 | 0 |
3:179218328:T | S553I | missense_variant | 0.86 | 0 |
3:179218334:A | R555K | missense_variant | 0.86 | 0 |
3:179218334:C | R555T | missense_variant | 0.86 | 0 |
3:179218334:T | R555I | missense_variant | 0.86 | 0 |
3:179219573:A | M583I | missense_variant | 0.86 | 0 |
3:179219573:C | M583I | missense_variant | 0.86 | 0 |
3:179219573:T | M583I | missense_variant | 0.86 | 0 |
3:179219578:A | C585Y | missense_variant | 0.86 | 0 |
3:179219578:C | C585S | missense_variant | 0.86 | 0 |
3:179219578:T | C585F | missense_variant | 0.86 | 0 |
3:179219589:A | D589N | missense_variant | 0.86 | 0 |
3:179219589:C | D589H | missense_variant | 0.86 | 0 |
3:179219589:T | D589Y | missense_variant | 0.86 | 0 |
3:179219593:C | W590S | missense_variant | 0.86 | 0 |
3:179219593:T | W590L | missense_variant | 0.86 | 0 |
3:179219594:C | W590C | missense_variant | 0.86 | 0 |
3:179219594:T | W590C | missense_variant | 0.86 | 0 |
3:179219610:A | E596K | missense_variant | 0.86 | 0 |
3:179219610:C | E596Q | missense_variant | 0.86 | 0 |
3:179219616:A | A598T | missense_variant | 0.86 | 0 |
3:179219616:C | A598P | missense_variant | 0.86 | 0 |
3:179219616:T | A598S | missense_variant | 0.86 | 0 |
3:179219621:A | M599I | missense_variant | 0.86 | 0 |
3:179219621:C | M599I | missense_variant | 0.86 | 0 |
3:179219621:T | M599I | missense_variant | 0.86 | 0 |
3:179219622:A | E600K | missense_variant | 0.86 | 0 |
3:179219622:C | E600Q | missense_variant | 0.86 | 0 |
3:179219631:A | D603N | missense_variant | 0.86 | 0 |
3:179219631:C | D603H | missense_variant | 0.86 | 0 |
3:179219631:T | D603Y | missense_variant | 0.86 | 0 |
3:179219646:A | D608N | missense_variant | 0.86 | 0 |
3:179219646:C | D608H | missense_variant | 0.86 | 0 |
3:179219646:T | D608Y | missense_variant | 0.86 | 0 |
3:179219659:A | R612Q | missense_variant | 0.86 | 0 |
3:179219659:C | R612P | missense_variant | 0.86 | 0 |
3:179219659:T | R612L | missense_variant | 0.86 | 0 |
3:179219667:A | A615T | missense_variant | 0.86 | 0 |
3:179219667:C | A615P | missense_variant | 0.86 | 0 |
3:179219667:T | A615S | missense_variant | 0.86 | 0 |
3:179219677:A | C618Y | missense_variant | 0.86 | 0 |
3:179219677:C | C618S | missense_variant | 0.86 | 0 |
3:179219677:T | C618F | missense_variant | 0.86 | 0 |
3:179219682:A | E620K | missense_variant | 0.86 | 0 |
3:179219682:C | E620Q | missense_variant | 0.86 | 0 |
3:179219697:A | D625N | missense_variant | 0.86 | 0 |
3:179219697:C | D625H | missense_variant | 0.86 | 0 |
3:179219697:T | D625Y | missense_variant | 0.86 | 0 |
3:179219700:A | D626N | missense_variant | 0.86 | 0 |
3:179219700:C | D626H | missense_variant | 0.86 | 0 |
3:179219700:T | D626Y | missense_variant | 0.86 | 0 |
3:179219730:A | V636I | missense_variant | 0.86 | 0 |
3:179219730:C | V636L | missense_variant | 0.86 | 0 |
3:179219730:T | V636L | missense_variant | 0.86 | 0 |
3:179219735:C | Q637H | missense_variant | 0.86 | 0 |
3:179219735:T | Q637H | missense_variant | 0.86 | 0 |
3:179219949:A | V638I | missense_variant | 0.86 | 0 |
3:179219949:C | V638L | missense_variant | 0.86 | 0 |
3:179219949:T | V638F | missense_variant | 0.86 | 0 |
3:179219961:A | E642K | missense_variant | 0.86 | 0 |
3:179219961:C | E642Q | missense_variant | 0.86 | 0 |
3:179219973:A | D646N | missense_variant | 0.86 | 0 |
3:179219973:C | D646H | missense_variant | 0.86 | 0 |
3:179219973:T | D646Y | missense_variant | 0.86 | 0 |
3:179219985:A | V650M | missense_variant | 0.86 | 0 |
3:179219985:T | V650L | missense_variant | 0.86 | 0 |
3:179219989:A | R651K | missense_variant | 0.86 | 0 |
3:179219989:C | R651T | missense_variant | 0.86 | 0 |
3:179219989:T | R651I | missense_variant | 0.86 | 0 |
3:179220006:A | A657T | missense_variant | 0.86 | 0 |
3:179220006:C | A657P | missense_variant | 0.86 | 0 |
3:179220006:T | A657S | missense_variant | 0.86 | 0 |
3:179220022:A | R662K | missense_variant | 0.86 | 0 |
3:179220022:C | R662T | missense_variant | 0.86 | 0 |
3:179220022:T | R662M | missense_variant | 0.86 | 0 |
3:179220027:A | G664R | missense_variant | 0.86 | 0 |
3:179220027:C | G664R | missense_variant | 0.86 | 0 |
3:179220027:T | G664W | missense_variant | 0.86 | 0 |
3:179220028:A | G664E | missense_variant | 0.86 | 0 |
3:179220028:C | G664A | missense_variant | 0.86 | 0 |
3:179220028:T | G664V | missense_variant | 0.86 | 0 |
3:179220043:C | W669S | missense_variant | 0.86 | 0 |
3:179220043:T | W669L | missense_variant | 0.86 | 0 |
3:179220044:C | W669C | missense_variant | 0.86 | 0 |
3:179220044:T | W669C | missense_variant | 0.86 | 0 |
3:179220990:A | E674K | missense_variant | 0.86 | 0 |
3:179220990:C | E674Q | missense_variant | 0.86 | 0 |
3:179220995:A | M675I | missense_variant | 0.86 | 0 |
3:179220995:C | M675I | missense_variant | 0.86 | 0 |
3:179220995:T | M675I | missense_variant | 0.86 | 0 |
3:179221008:A | V680I | missense_variant | 0.86 | 0 |
3:179221008:C | V680L | missense_variant | 0.86 | 0 |
3:179221008:T | V680F | missense_variant | 0.86 | 0 |
3:179221018:A | R683K | missense_variant | 0.86 | 0 |
3:179221018:C | R683T | missense_variant | 0.86 | 0 |
3:179221018:T | R683M | missense_variant | 0.86 | 0 |
3:179221023:A | G685S | missense_variant | 0.86 | 0 |
3:179221023:C | G685R | missense_variant | 0.86 | 0 |
3:179221023:T | G685C | missense_variant | 0.86 | 0 |
3:179221024:A | G685D | missense_variant | 0.86 | 0 |
3:179221024:C | G685A | missense_variant | 0.86 | 0 |
3:179221024:T | G685V | missense_variant | 0.86 | 0 |
3:179221035:A | E689K | missense_variant | 0.86 | 0 |
3:179221035:C | E689Q | missense_variant | 0.86 | 0 |
3:179221045:A | C692Y | missense_variant | 0.86 | 0 |
3:179221045:C | C692S | missense_variant | 0.86 | 0 |
3:179221045:T | C692F | missense_variant | 0.86 | 0 |
3:179221048:A | R693H | missense_variant | 0.86 | 0 |
3:179221048:C | R693P | missense_variant | 0.86 | 0 |
3:179221048:T | R693L | missense_variant | 0.86 | 0 |
3:179221050:A | A694T | missense_variant | 0.86 | 0 |
3:179221050:C | A694P | missense_variant | 0.86 | 0 |
3:179221050:T | A694S | missense_variant | 0.86 | 0 |
3:179221054:A | C695Y | missense_variant | 0.86 | 0 |
3:179221054:C | C695S | missense_variant | 0.86 | 0 |
3:179221054:T | C695F | missense_variant | 0.86 | 0 |
3:179221056:A | G696R | missense_variant | 0.86 | 0 |
3:179221056:C | G696R | missense_variant | 0.86 | 0 |
3:179221056:T | G696W | missense_variant | 0.86 | 0 |
3:179221057:A | G696E | missense_variant | 0.86 | 0 |
3:179221057:C | G696A | missense_variant | 0.86 | 0 |
3:179221057:T | G696V | missense_variant | 0.86 | 0 |
3:179221061:A | M697I | missense_variant | 0.86 | 0 |
3:179221061:C | M697I | missense_variant | 0.86 | 0 |
3:179221061:T | M697I | missense_variant | 0.86 | 0 |
3:179209644:T | A399S | missense_variant | 0.86 | 0 |
3:179209644:C | A399P | missense_variant | 0.86 | 0 |
3:179199126:A | V101I | missense_variant | 0.86 | 0 |
3:179199126:T | V101L | missense_variant | 0.86 | 0 |
3:179199126:C | V101L | missense_variant | 0.86 | 0 |
3:179234277:C | M1040I | missense_variant | 0.85 | 0 |
3:179234277:T | M1040I | missense_variant | 0.85 | 0 |
3:179234277:A | M1040I | missense_variant | 0.85 | 0 |
3:179210462:T | W479L | missense_variant | 0.85 | 0 |
3:179210462:C | W479S | missense_variant | 0.85 | 0 |
3:179199051:C | E76Q | missense_variant | 0.82 | 0 |
3:179199096:T | D91Y | missense_variant | 0.82 | 0 |
3:179199096:C | D91H | missense_variant | 0.82 | 0 |
3:179199051:A | E76K | missense_variant | 0.82 | 0 |
3:179199096:A | D91N | missense_variant | 0.82 | 0 |
3:179234242:T | D1029Y | missense_variant | 0.81 | 0 |
3:179234242:C | D1029H | missense_variant | 0.81 | 0 |
3:179234242:A | D1029N | missense_variant | 0.81 | 0 |
3:179199095:G | C90W | missense_variant | 0.81 | 0 |
3:179210321:T | G463* | stop_gained | 0.81 | 0 |
3:179210431:T | E469* | stop_gained | 0.81 | 0 |
3:179210452:T | E476* | stop_gained | 0.81 | 0 |
3:179210291:T | E453* | stop_gained | 0.81 | 0 |
3:179198940:T | E39* | stop_gained | 0.80 | 0 |
3:179218311:C | E547D | missense_variant | 0.79 | 0 |
3:179218311:T | E547D | missense_variant | 0.79 | 0 |
3:179199716:T | E127* | stop_gained | 0.77 | 0 |
3:179218298:A | I543N | missense_variant | 0.77 | 0 |
3:179218298:C | I543T | missense_variant | 0.77 | 0 |
3:179218298:G | I543S | missense_variant | 0.77 | 0 |
3:179204575:A | C378S | missense_variant | 0.76 | 0 |
3:179204575:C | C378R | missense_variant | 0.76 | 0 |
3:179204575:G | C378G | missense_variant | 0.76 | 0 |
3:179198937:T | R38C | missense_variant | 0.76 | 0 |
3:179198937:G | R38G | missense_variant | 0.76 | 0 |
3:179198937:A | R38S | missense_variant | 0.76 | 0 |
3:179199087:G | R88G | missense_variant | 0.72 | 0 |
3:179218307:C | Q546P | missense_variant | 0.68 | 0 |
3:179218304:T | E545V | missense_variant | 0.68 | 0 |
3:179218295:C | E542A | missense_variant | 0.68 | 0 |
3:179218295:G | E542G | missense_variant | 0.68 | 0 |
3:179218295:T | E542V | missense_variant | 0.68 | 0 |
3:179218304:G | E545G | missense_variant | 0.68 | 0 |
3:179218307:T | Q546L | missense_variant | 0.68 | 0 |
3:179218304:C | E545A | missense_variant | 0.68 | 0 |
3:179218297:G | I543V | missense_variant | 0.68 | 0 |
3:179218300:T | T544S | missense_variant | 0.68 | 0 |
3:179218300:C | T544P | missense_variant | 0.68 | 0 |
3:179218297:T | I543F | missense_variant | 0.68 | 0 |
3:179218297:C | I543L | missense_variant | 0.68 | 0 |
3:179218300:G | T544A | missense_variant | 0.68 | 0 |
3:179204577:G | C378W | missense_variant | 0.64 | 0 |
3:179234280:T | K1041N | missense_variant | 0.61 | 0 |
3:179234280:C | K1041N | missense_variant | 0.61 | 0 |
3:179218312:T | K548* | stop_gained | 0.60 | 0 |
3:179199851:T | E172* | stop_gained | 0.57 | 0 |
3:179210539:T | G505* | stop_gained | 0.57 | 0 |
3:179210533:T | E503* | stop_gained | 0.57 | 0 |
3:179210506:T | E494* | stop_gained | 0.57 | 0 |
3:179210503:T | E493* | stop_gained | 0.57 | 0 |
3:179221157:A | K729K | splice_region_variant | 0.57 | 0 |
3:179221146:T | E726* | stop_gained | 0.57 | 0 |
3:179221134:T | E722* | stop_gained | 0.57 | 0 |
3:179221098:T | E710* | stop_gained | 0.57 | 0 |
3:179199740:T | E135* | stop_gained | 0.57 | 0 |
3:179199782:T | E149* | stop_gained | 0.57 | 0 |
3:179199863:T | E176* | stop_gained | 0.57 | 0 |
3:179221089:T | E707* | stop_gained | 0.57 | 0 |
3:179218291:C | S541P | missense_variant | 0.54 | 0 |
3:179218289:G | L540R | missense_variant | 0.54 | 0 |
3:179218289:C | L540P | missense_variant | 0.54 | 0 |
3:179218291:A | S541T | missense_variant | 0.54 | 0 |
3:179218291:G | S541A | missense_variant | 0.54 | 0 |
3:179218289:A | L540H | missense_variant | 0.54 | 0 |
3:179210205:A | W424* | stop_gained | 0.54 | 0 |
3:179210285:T | G451* | stop_gained | 0.54 | 0 |
3:179210272:A | W446* | stop_gained | 0.54 | 0 |
3:179210271:A | W446* | stop_gained | 0.54 | 0 |
3:179210207:T | G425* | stop_gained | 0.54 | 0 |
3:179209598:A | W383* | stop_gained | 0.54 | 0 |
3:179209607:A | W386* | stop_gained | 0.54 | 0 |
3:179210206:A | W424* | stop_gained | 0.54 | 0 |
3:179209597:A | W383* | stop_gained | 0.54 | 0 |
3:179209606:A | W386* | stop_gained | 0.54 | 0 |
3:179209602:T | E385* | stop_gained | 0.54 | 0 |
3:179210186:T | E418* | stop_gained | 0.54 | 0 |
3:179234276:A | M1040K | missense_variant | 0.52 | 0 |
3:179234276:G | M1040R | missense_variant | 0.52 | 0 |
3:179234276:C | M1040T | missense_variant | 0.52 | 0 |
Cancer type | Selected cancer type | Mutational discovery Index | Feature Complexity |
---|---|---|---|
(CESC) Cervix squamous cancer | CESC | 0.62 | 0.20 |