Mutation | AA change | Consequence type | BoostDM score | IntOGen frequency |
---|---|---|---|---|
3:179218303:A | E545K | missense_variant | 1.00 | 56 |
3:179218294:A | E542K | missense_variant | 1.00 | 28 |
3:179234297:G | H1047R | missense_variant | 1.00 | 11 |
3:179221146:A | E726K | missense_variant | 0.98 | 7 |
3:179218303:C | E545Q | missense_variant | 1.00 | 6 |
3:179199088:A | R88Q | missense_variant | 1.00 | 4 |
3:179234297:T | H1047L | missense_variant | 1.00 | 2 |
3:179218307:T | Q546L | missense_variant | 1.00 | 2 |
3:179210291:C | E453Q | missense_variant | 0.99 | 2 |
3:179210291:A | E453K | missense_variant | 0.99 | 2 |
3:179210285:A | G451R | missense_variant | 0.99 | 2 |
3:179199094:C | C90S | missense_variant | 0.99 | 2 |
3:179210503:A | E493K | missense_variant | 0.98 | 2 |
3:179204536:A | E365K | missense_variant | 0.87 | 2 |
3:179224776:C | E791Q | missense_variant | 0.55 | 2 |
3:179234286:T | M1043I | missense_variant | 1.00 | 1 |
3:179234302:C | G1049R | missense_variant | 1.00 | 1 |
3:179234286:C | M1043I | missense_variant | 1.00 | 1 |
3:179218307:G | Q546R | missense_variant | 1.00 | 1 |
3:179218304:C | E545A | missense_variant | 1.00 | 1 |
3:179218304:G | E545G | missense_variant | 1.00 | 1 |
3:179210286:T | G451V | missense_variant | 0.99 | 1 |
3:179210186:A | E418K | missense_variant | 0.99 | 1 |
3:179210271:C | W446S | missense_variant | 0.99 | 1 |
3:179199690:A | G118D | missense_variant | 0.99 | 1 |
3:179221098:C | E710Q | missense_variant | 0.98 | 1 |
3:179199788:A | V151M | missense_variant | 0.98 | 1 |
3:179218306:A | Q546K | missense_variant | 0.97 | 1 |
3:179220990:C | E674Q | missense_variant | 0.95 | 1 |
3:179219730:C | V636L | missense_variant | 0.95 | 1 |
3:179209698:A | E417K | missense_variant | 0.94 | 1 |
3:179209684:A | R412Q | missense_variant | 0.94 | 1 |
3:179203765:A | N345K | missense_variant | 0.92 | 1 |
3:179230308:C | L956F | missense_variant | 0.81 | 1 |
3:179203763:C | N345H | missense_variant | 0.81 | 1 |
3:179199085:A | R87K | missense_variant | 0.74 | 1 |
3:179199103:A | R93Q | missense_variant | 0.73 | 1 |
3:179199169:T | R115L | missense_variant | 0.67 | 1 |
3:179234191:C | E1012Q | missense_variant | 0.56 | 1 |
3:179203551:A | R274K | missense_variant | 0.55 | 1 |
3:179218294:C | E542Q | missense_variant | 1.00 | 0 |
3:179234303:T | G1049V | missense_variant | 1.00 | 0 |
3:179234286:A | M1043I | missense_variant | 1.00 | 0 |
3:179234302:T | G1049C | missense_variant | 1.00 | 0 |
3:179234302:A | G1049S | missense_variant | 1.00 | 0 |
3:179234303:A | G1049D | missense_variant | 1.00 | 0 |
3:179234303:C | G1049A | missense_variant | 1.00 | 0 |
3:179218309:A | E547K | missense_variant | 1.00 | 0 |
3:179218309:C | E547Q | missense_variant | 1.00 | 0 |
3:179234284:T | M1043L | missense_variant | 1.00 | 0 |
3:179234297:C | H1047P | missense_variant | 1.00 | 0 |
3:179234284:C | M1043L | missense_variant | 1.00 | 0 |
3:179234284:G | M1043V | 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:C | R537P | missense_variant | 1.00 | 0 |
3:179218280:A | R537Q | missense_variant | 1.00 | 0 |
3:179218295:C | E542A | missense_variant | 1.00 | 0 |
3:179218295:T | E542V | missense_variant | 1.00 | 0 |
3:179218295:G | E542G | missense_variant | 1.00 | 0 |
3:179218307:C | Q546P | missense_variant | 1.00 | 0 |
3:179218304:T | E545V | missense_variant | 1.00 | 0 |
3:179234290:T | D1045Y | missense_variant | 1.00 | 0 |
3:179234290:C | D1045H | missense_variant | 1.00 | 0 |
3:179234290:A | D1045N | missense_variant | 1.00 | 0 |
3:179199088:T | R88L | missense_variant | 1.00 | 0 |
3:179199088:C | R88P | missense_variant | 1.00 | 0 |
3:179198942:C | E39D | missense_variant | 1.00 | 0 |
3:179198942:T | E39D | missense_variant | 1.00 | 0 |
3:179234291:C | D1045A | missense_variant | 1.00 | 0 |
3:179234291:T | D1045V | missense_variant | 1.00 | 0 |
3:179234288:T | N1044I | missense_variant | 1.00 | 0 |
3:179234287:C | N1044H | missense_variant | 1.00 | 0 |
3:179234287:G | N1044D | missense_variant | 1.00 | 0 |
3:179234287:T | N1044Y | missense_variant | 1.00 | 0 |
3:179234288:C | N1044T | missense_variant | 1.00 | 0 |
3:179234288:G | N1044S | missense_variant | 1.00 | 0 |
3:179234300:T | H1048L | missense_variant | 1.00 | 0 |
3:179234300:G | H1048R | missense_variant | 1.00 | 0 |
3:179234300:C | H1048P | missense_variant | 1.00 | 0 |
3:179234291:G | D1045G | missense_variant | 1.00 | 0 |
3:179210193:C | C420S | missense_variant | 1.00 | 0 |
3:179210193:T | C420F | missense_variant | 1.00 | 0 |
3:179210193:A | C420Y | missense_variant | 1.00 | 0 |
3:179234301:A | H1048Q | missense_variant | 1.00 | 0 |
3:179234301:G | H1048Q | missense_variant | 1.00 | 0 |
3:179218294:T | E542* | stop_gained | 0.99 | 0 |
3:179218303:T | E545* | stop_gained | 0.99 | 0 |
3:179218308:C | Q546H | missense_variant | 0.99 | 0 |
3:179218308:T | Q546H | missense_variant | 0.99 | 0 |
3:179234289:A | N1044K | missense_variant | 0.99 | 0 |
3:179234289:G | N1044K | missense_variant | 0.99 | 0 |
3:179234298:A | H1047Q | missense_variant | 0.99 | 0 |
3:179234298:G | H1047Q | missense_variant | 0.99 | 0 |
3:179210441:A | C472Y | missense_variant | 0.99 | 0 |
3:179210431:C | E469Q | missense_variant | 0.99 | 0 |
3:179210294:C | D454H | missense_variant | 0.99 | 0 |
3:179210431:A | E469K | missense_variant | 0.99 | 0 |
3:179210294:A | D454N | 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 |
3:179210286:C | G451A | missense_variant | 0.99 | 0 |
3:179210286:A | G451E | 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 |
3:179210313:C | G460A | missense_variant | 0.99 | 0 |
3:179210452:A | E476K | missense_variant | 0.99 | 0 |
3:179210452:C | E476Q | missense_variant | 0.99 | 0 |
3:179210294:T | D454Y | missense_variant | 0.99 | 0 |
3:179210441:T | C472F | missense_variant | 0.99 | 0 |
3:179210441:C | C472S | missense_variant | 0.99 | 0 |
3:179210313:A | G460D | missense_variant | 0.99 | 0 |
3:179210312:A | G460S | missense_variant | 0.99 | 0 |
3:179210312:C | G460R | missense_variant | 0.99 | 0 |
3:179210312:T | G460C | missense_variant | 0.99 | 0 |
3:179210192:G | C420G | missense_variant | 0.99 | 0 |
3:179210192:C | C420R | missense_variant | 0.99 | 0 |
3:179210192:A | C420S | missense_variant | 0.99 | 0 |
3:179210225:C | D431H | missense_variant | 0.99 | 0 |
3:179210225:T | D431Y | missense_variant | 0.99 | 0 |
3:179210243:A | V437I | missense_variant | 0.99 | 0 |
3:179210243:C | V437L | missense_variant | 0.99 | 0 |
3:179210468:T | S481I | missense_variant | 0.99 | 0 |
3:179210468:C | S481T | missense_variant | 0.99 | 0 |
3:179210468:A | S481N | missense_variant | 0.99 | 0 |
3:179209597:C | W383S | missense_variant | 0.99 | 0 |
3:179209597:T | W383L | missense_variant | 0.99 | 0 |
3:179209598:C | W383C | missense_variant | 0.99 | 0 |
3:179209598:T | W383C | missense_variant | 0.99 | 0 |
3:179209602:A | E385K | missense_variant | 0.99 | 0 |
3:179209602:C | E385Q | missense_variant | 0.99 | 0 |
3:179209606:C | W386S | missense_variant | 0.99 | 0 |
3:179209606:T | W386L | missense_variant | 0.99 | 0 |
3:179209607:C | W386C | missense_variant | 0.99 | 0 |
3:179209607:T | W386C | missense_variant | 0.99 | 0 |
3:179209617:A | D390N | missense_variant | 0.99 | 0 |
3:179209617:C | D390H | missense_variant | 0.99 | 0 |
3:179209617:T | D390Y | missense_variant | 0.99 | 0 |
3:179209632:A | D395N | missense_variant | 0.99 | 0 |
3:179209632:C | D395H | missense_variant | 0.99 | 0 |
3:179209632:T | D395Y | missense_variant | 0.99 | 0 |
3:179209642:A | R398H | missense_variant | 0.99 | 0 |
3:179209642:C | R398P | missense_variant | 0.99 | 0 |
3:179209642:T | R398L | missense_variant | 0.99 | 0 |
3:179209647:A | A400T | missense_variant | 0.99 | 0 |
3:179209647:C | A400P | missense_variant | 0.99 | 0 |
3:179209647:T | A400S | missense_variant | 0.99 | 0 |
3:179209657:A | C403Y | missense_variant | 0.99 | 0 |
3:179209657:C | C403S | missense_variant | 0.99 | 0 |
3:179209657:T | C403F | missense_variant | 0.99 | 0 |
3:179210285:C | G451R | missense_variant | 0.99 | 0 |
3:179210276:T | V448L | missense_variant | 0.99 | 0 |
3:179210276:C | V448L | missense_variant | 0.99 | 0 |
3:179210276:A | V448I | missense_variant | 0.99 | 0 |
3:179210272:T | W446C | missense_variant | 0.99 | 0 |
3:179210272:C | W446C | missense_variant | 0.99 | 0 |
3:179210271:T | W446L | missense_variant | 0.99 | 0 |
3:179210258:T | A442S | missense_variant | 0.99 | 0 |
3:179210258:C | A442P | missense_variant | 0.99 | 0 |
3:179210258:A | A442T | missense_variant | 0.99 | 0 |
3:179210186:C | E418Q | missense_variant | 0.99 | 0 |
3:179210243:T | V437L | missense_variant | 0.99 | 0 |
3:179210201:A | A423T | missense_variant | 0.99 | 0 |
3:179210201:C | A423P | missense_variant | 0.99 | 0 |
3:179210201:T | A423S | missense_variant | 0.99 | 0 |
3:179210205:C | W424S | missense_variant | 0.99 | 0 |
3:179210205:T | W424L | missense_variant | 0.99 | 0 |
3:179210206:C | W424C | missense_variant | 0.99 | 0 |
3:179210206:T | W424C | missense_variant | 0.99 | 0 |
3:179210207:A | G425R | missense_variant | 0.99 | 0 |
3:179210207:C | G425R | missense_variant | 0.99 | 0 |
3:179210208:A | G425E | missense_variant | 0.99 | 0 |
3:179210208:C | G425A | missense_variant | 0.99 | 0 |
3:179210208:T | G425V | missense_variant | 0.99 | 0 |
3:179210225:A | D431N | missense_variant | 0.99 | 0 |
3:179218313:T | K548I | missense_variant | 0.99 | 0 |
3:179218313:G | K548R | missense_variant | 0.99 | 0 |
3:179218312:G | K548E | missense_variant | 0.99 | 0 |
3:179218310:G | E547G | missense_variant | 0.99 | 0 |
3:179218310:C | E547A | missense_variant | 0.99 | 0 |
3:179218310:T | E547V | missense_variant | 0.99 | 0 |
3:179218312:C | K548Q | missense_variant | 0.99 | 0 |
3:179218313:C | K548T | missense_variant | 0.99 | 0 |
3:179199690:T | G118V | missense_variant | 0.99 | 0 |
3:179199690:C | G118A | missense_variant | 0.99 | 0 |
3:179199702:C | G122A | missense_variant | 0.99 | 0 |
3:179199714:C | C126S | missense_variant | 0.99 | 0 |
3:179199695:C | A120P | missense_variant | 0.99 | 0 |
3:179199714:A | C126Y | missense_variant | 0.99 | 0 |
3:179199706:T | M123I | missense_variant | 0.99 | 0 |
3:179199706:C | M123I | missense_variant | 0.99 | 0 |
3:179199695:A | A120T | missense_variant | 0.99 | 0 |
3:179199706:A | M123I | missense_variant | 0.99 | 0 |
3:179199702:T | G122V | missense_variant | 0.99 | 0 |
3:179199702:A | G122D | missense_variant | 0.99 | 0 |
3:179199701:T | G122C | missense_variant | 0.99 | 0 |
3:179199716:C | E127Q | missense_variant | 0.99 | 0 |
3:179199716:A | E127K | missense_variant | 0.99 | 0 |
3:179199701:C | G122R | missense_variant | 0.99 | 0 |
3:179199714:T | C126F | missense_variant | 0.99 | 0 |
3:179199701:A | G122S | missense_variant | 0.99 | 0 |
3:179199695:T | A120S | missense_variant | 0.99 | 0 |
3:179199094:A | C90Y | missense_variant | 0.99 | 0 |
3:179199094:T | C90F | missense_variant | 0.99 | 0 |
3:179218296:T | E542D | missense_variant | 0.99 | 0 |
3:179218296:C | E542D | missense_variant | 0.99 | 0 |
3:179218311:T | E547D | missense_variant | 0.99 | 0 |
3:179218311:C | E547D | missense_variant | 0.99 | 0 |
3:179199087:G | R88G | missense_variant | 0.98 | 0 |
3:179218305:C | E545D | missense_variant | 0.98 | 0 |
3:179218305:T | E545D | missense_variant | 0.98 | 0 |
3:179204576:C | C378S | missense_variant | 0.98 | 0 |
3:179204576:A | C378Y | missense_variant | 0.98 | 0 |
3:179204576:T | C378F | missense_variant | 0.98 | 0 |
3:179234296:G | H1047D | missense_variant | 0.98 | 0 |
3:179234296:A | H1047N | missense_variant | 0.98 | 0 |
3:179234296:T | H1047Y | missense_variant | 0.98 | 0 |
3:179198938:C | R38P | missense_variant | 0.98 | 0 |
3:179198940:C | E39Q | missense_variant | 0.98 | 0 |
3:179198938:T | R38L | missense_variant | 0.98 | 0 |
3:179198938:A | R38H | missense_variant | 0.98 | 0 |
3:179198940:A | E39K | missense_variant | 0.98 | 0 |
3:179218228:T | D520Y | missense_variant | 0.98 | 0 |
3:179199899:T | G188W | missense_variant | 0.98 | 0 |
3:179199722:A | D129N | missense_variant | 0.98 | 0 |
3:179218217:T | R516I | missense_variant | 0.98 | 0 |
3:179218217:C | R516T | missense_variant | 0.98 | 0 |
3:179218217:A | R516K | missense_variant | 0.98 | 0 |
3:179210540:T | G505V | missense_variant | 0.98 | 0 |
3:179221157:T | K729N | missense_variant | 0.98 | 0 |
3:179221157:C | K729N | missense_variant | 0.98 | 0 |
3:179221146:C | E726Q | missense_variant | 0.98 | 0 |
3:179221143:T | D725Y | missense_variant | 0.98 | 0 |
3:179210540:C | G505A | missense_variant | 0.98 | 0 |
3:179210540:A | G505E | missense_variant | 0.98 | 0 |
3:179210539:C | G505R | missense_variant | 0.98 | 0 |
3:179221143:C | D725H | missense_variant | 0.98 | 0 |
3:179218222:A | A518T | missense_variant | 0.98 | 0 |
3:179210539:A | G505R | missense_variant | 0.98 | 0 |
3:179221143:A | D725N | missense_variant | 0.98 | 0 |
3:179221134:C | E722Q | missense_variant | 0.98 | 0 |
3:179210533:C | E503Q | missense_variant | 0.98 | 0 |
3:179210533:A | E503K | missense_variant | 0.98 | 0 |
3:179210531:T | R502L | missense_variant | 0.98 | 0 |
3:179210531:C | R502P | missense_variant | 0.98 | 0 |
3:179210531:A | R502Q | missense_variant | 0.98 | 0 |
3:179210512:T | A496S | missense_variant | 0.98 | 0 |
3:179210512:C | A496P | missense_variant | 0.98 | 0 |
3:179210512:A | A496T | missense_variant | 0.98 | 0 |
3:179210506:C | E494Q | missense_variant | 0.98 | 0 |
3:179210506:A | E494K | missense_variant | 0.98 | 0 |
3:179210503:C | E493Q | missense_variant | 0.98 | 0 |
3:179210488:T | D488Y | missense_variant | 0.98 | 0 |
3:179210488:C | D488H | missense_variant | 0.98 | 0 |
3:179210488:A | D488N | missense_variant | 0.98 | 0 |
3:179210476:T | V484L | missense_variant | 0.98 | 0 |
3:179210476:C | V484L | missense_variant | 0.98 | 0 |
3:179210476:A | V484I | missense_variant | 0.98 | 0 |
3:179221089:C | E707Q | missense_variant | 0.98 | 0 |
3:179221089:A | E707K | missense_variant | 0.98 | 0 |
3:179221134:A | E722K | missense_variant | 0.98 | 0 |
3:179221119:T | D717Y | missense_variant | 0.98 | 0 |
3:179221119:C | D717H | missense_variant | 0.98 | 0 |
3:179218222:C | A518P | missense_variant | 0.98 | 0 |
3:179218222:T | A518S | missense_variant | 0.98 | 0 |
3:179218226:A | R519K | missense_variant | 0.98 | 0 |
3:179218226:C | R519T | missense_variant | 0.98 | 0 |
3:179218226:T | R519I | missense_variant | 0.98 | 0 |
3:179218228:A | D520N | missense_variant | 0.98 | 0 |
3:179218228:C | D520H | missense_variant | 0.98 | 0 |
3:179199824:A | A163T | missense_variant | 0.98 | 0 |
3:179199824:C | A163P | missense_variant | 0.98 | 0 |
3:179199824:T | A163S | missense_variant | 0.98 | 0 |
3:179199833:A | V166I | missense_variant | 0.98 | 0 |
3:179199833:C | V166L | missense_variant | 0.98 | 0 |
3:179199833:T | V166F | missense_variant | 0.98 | 0 |
3:179199851:A | E172K | missense_variant | 0.98 | 0 |
3:179199851:C | E172Q | missense_variant | 0.98 | 0 |
3:179199863:A | E176K | missense_variant | 0.98 | 0 |
3:179199863:C | E176Q | missense_variant | 0.98 | 0 |
3:179199893:A | D186N | missense_variant | 0.98 | 0 |
3:179199893:C | D186H | missense_variant | 0.98 | 0 |
3:179199893:T | D186Y | missense_variant | 0.98 | 0 |
3:179199899:A | G188R | missense_variant | 0.98 | 0 |
3:179199899:C | G188R | missense_variant | 0.98 | 0 |
3:179199722:C | D129H | missense_variant | 0.98 | 0 |
3:179221119:A | D717N | missense_variant | 0.98 | 0 |
3:179221098:A | E710K | missense_variant | 0.98 | 0 |
3:179221097:T | M709I | missense_variant | 0.98 | 0 |
3:179221097:C | M709I | missense_variant | 0.98 | 0 |
3:179221086:T | V706F | missense_variant | 0.98 | 0 |
3:179221086:C | V706L | missense_variant | 0.98 | 0 |
3:179221086:A | V706I | missense_variant | 0.98 | 0 |
3:179221092:A | A708T | missense_variant | 0.98 | 0 |
3:179221097:A | M709I | missense_variant | 0.98 | 0 |
3:179221092:T | A708S | missense_variant | 0.98 | 0 |
3:179221092:C | A708P | missense_variant | 0.98 | 0 |
3:179199728:A | V131I | missense_variant | 0.98 | 0 |
3:179199728:C | V131L | missense_variant | 0.98 | 0 |
3:179199728:T | V131F | missense_variant | 0.98 | 0 |
3:179199734:A | D133N | missense_variant | 0.98 | 0 |
3:179199734:C | D133H | missense_variant | 0.98 | 0 |
3:179199734:T | D133Y | missense_variant | 0.98 | 0 |
3:179199740:A | E135K | missense_variant | 0.98 | 0 |
3:179199740:C | E135Q | missense_variant | 0.98 | 0 |
3:179199743:A | V136I | missense_variant | 0.98 | 0 |
3:179199743:C | V136L | missense_variant | 0.98 | 0 |
3:179199743:T | V136L | missense_variant | 0.98 | 0 |
3:179199749:A | D138N | missense_variant | 0.98 | 0 |
3:179199749:C | D138H | missense_variant | 0.98 | 0 |
3:179199749:T | D138Y | missense_variant | 0.98 | 0 |
3:179199756:A | R140Q | missense_variant | 0.98 | 0 |
3:179199756:C | R140P | missense_variant | 0.98 | 0 |
3:179199756:T | R140L | missense_variant | 0.98 | 0 |
3:179199773:A | V146I | missense_variant | 0.98 | 0 |
3:179199773:C | V146L | missense_variant | 0.98 | 0 |
3:179199773:T | V146F | missense_variant | 0.98 | 0 |
3:179199777:A | C147Y | missense_variant | 0.98 | 0 |
3:179199777:C | C147S | missense_variant | 0.98 | 0 |
3:179199777:T | C147F | missense_variant | 0.98 | 0 |
3:179199782:A | E149K | missense_variant | 0.98 | 0 |
3:179199782:C | E149Q | missense_variant | 0.98 | 0 |
3:179199722:T | D129Y | missense_variant | 0.98 | 0 |
3:179199788:C | V151L | missense_variant | 0.98 | 0 |
3:179199788:T | V151L | missense_variant | 0.98 | 0 |
3:179199791:A | D152N | missense_variant | 0.98 | 0 |
3:179199791:C | D152H | missense_variant | 0.98 | 0 |
3:179199791:T | D152Y | missense_variant | 0.98 | 0 |
3:179199798:A | R154K | missense_variant | 0.98 | 0 |
3:179199798:C | R154T | missense_variant | 0.98 | 0 |
3:179199798:T | R154M | missense_variant | 0.98 | 0 |
3:179199819:A | S161N | missense_variant | 0.98 | 0 |
3:179199819:C | S161T | missense_variant | 0.98 | 0 |
3:179199819:T | S161I | missense_variant | 0.98 | 0 |
3:179199177:C | G118R | missense_variant | 0.98 | 0 |
3:179199177:A | G118S | missense_variant | 0.98 | 0 |
3:179199177:T | G118C | missense_variant | 0.98 | 0 |
3:179234293:C | A1046P | missense_variant | 0.98 | 0 |
3:179234293:T | A1046S | missense_variant | 0.98 | 0 |
3:179234293:A | A1046T | missense_variant | 0.98 | 0 |
3:179234285:A | M1043K | missense_variant | 0.98 | 0 |
3:179234285:C | M1043T | missense_variant | 0.98 | 0 |
3:179234285:G | M1043R | missense_variant | 0.98 | 0 |
3:179234292:A | D1045E | missense_variant | 0.97 | 0 |
3:179234292:G | D1045E | missense_variant | 0.97 | 0 |
3:179218306:G | Q546E | missense_variant | 0.97 | 0 |
3:179204577:G | C378W | missense_variant | 0.97 | 0 |
3:179198937:A | R38S | missense_variant | 0.96 | 0 |
3:179198937:T | R38C | missense_variant | 0.96 | 0 |
3:179198937:G | R38G | missense_variant | 0.96 | 0 |
3:179219730:A | V636I | missense_variant | 0.95 | 0 |
3:179219730:T | V636L | missense_variant | 0.95 | 0 |
3:179219735:C | Q637H | missense_variant | 0.95 | 0 |
3:179219735:T | Q637H | missense_variant | 0.95 | 0 |
3:179219949:A | V638I | missense_variant | 0.95 | 0 |
3:179221061:T | M697I | missense_variant | 0.95 | 0 |
3:179221061:C | M697I | missense_variant | 0.95 | 0 |
3:179221061:A | M697I | missense_variant | 0.95 | 0 |
3:179221057:T | G696V | missense_variant | 0.95 | 0 |
3:179221057:C | G696A | missense_variant | 0.95 | 0 |
3:179221057:A | G696E | missense_variant | 0.95 | 0 |
3:179221056:T | G696W | missense_variant | 0.95 | 0 |
3:179221056:C | G696R | missense_variant | 0.95 | 0 |
3:179221056:A | G696R | missense_variant | 0.95 | 0 |
3:179221054:T | C695F | missense_variant | 0.95 | 0 |
3:179221054:C | C695S | missense_variant | 0.95 | 0 |
3:179221054:A | C695Y | missense_variant | 0.95 | 0 |
3:179221050:T | A694S | missense_variant | 0.95 | 0 |
3:179221050:C | A694P | missense_variant | 0.95 | 0 |
3:179221050:A | A694T | missense_variant | 0.95 | 0 |
3:179221048:T | R693L | missense_variant | 0.95 | 0 |
3:179221048:C | R693P | missense_variant | 0.95 | 0 |
3:179221048:A | R693H | missense_variant | 0.95 | 0 |
3:179221045:T | C692F | missense_variant | 0.95 | 0 |
3:179221045:C | C692S | missense_variant | 0.95 | 0 |
3:179221045:A | C692Y | missense_variant | 0.95 | 0 |
3:179221035:C | E689Q | missense_variant | 0.95 | 0 |
3:179221035:A | E689K | missense_variant | 0.95 | 0 |
3:179221024:T | G685V | missense_variant | 0.95 | 0 |
3:179221024:C | G685A | missense_variant | 0.95 | 0 |
3:179221024:A | G685D | missense_variant | 0.95 | 0 |
3:179221023:T | G685C | missense_variant | 0.95 | 0 |
3:179221023:C | G685R | missense_variant | 0.95 | 0 |
3:179221023:A | G685S | missense_variant | 0.95 | 0 |
3:179221018:T | R683M | missense_variant | 0.95 | 0 |
3:179221018:C | R683T | missense_variant | 0.95 | 0 |
3:179221018:A | R683K | missense_variant | 0.95 | 0 |
3:179218243:A | E525K | missense_variant | 0.95 | 0 |
3:179218243:C | E525Q | missense_variant | 0.95 | 0 |
3:179218249:A | D527N | missense_variant | 0.95 | 0 |
3:179218249:C | D527H | missense_variant | 0.95 | 0 |
3:179218249:T | D527Y | missense_variant | 0.95 | 0 |
3:179218255:A | E529K | missense_variant | 0.95 | 0 |
3:179218255:C | E529Q | missense_variant | 0.95 | 0 |
3:179221008:T | V680F | missense_variant | 0.95 | 0 |
3:179221008:C | V680L | missense_variant | 0.95 | 0 |
3:179221008:A | V680I | missense_variant | 0.95 | 0 |
3:179220995:T | M675I | missense_variant | 0.95 | 0 |
3:179220995:C | M675I | missense_variant | 0.95 | 0 |
3:179220995:A | M675I | missense_variant | 0.95 | 0 |
3:179220990:A | E674K | missense_variant | 0.95 | 0 |
3:179220044:T | W669C | missense_variant | 0.95 | 0 |
3:179220044:C | W669C | missense_variant | 0.95 | 0 |
3:179220043:T | W669L | missense_variant | 0.95 | 0 |
3:179220043:C | W669S | missense_variant | 0.95 | 0 |
3:179220028:T | G664V | missense_variant | 0.95 | 0 |
3:179220028:C | G664A | missense_variant | 0.95 | 0 |
3:179220028:A | G664E | missense_variant | 0.95 | 0 |
3:179218315:A | D549N | missense_variant | 0.95 | 0 |
3:179218315:C | D549H | missense_variant | 0.95 | 0 |
3:179218315:T | D549Y | missense_variant | 0.95 | 0 |
3:179218325:C | W552S | missense_variant | 0.95 | 0 |
3:179218325:T | W552L | missense_variant | 0.95 | 0 |
3:179218326:C | W552C | missense_variant | 0.95 | 0 |
3:179218326:T | W552C | missense_variant | 0.95 | 0 |
3:179218328:A | S553N | missense_variant | 0.95 | 0 |
3:179218328:C | S553T | missense_variant | 0.95 | 0 |
3:179218328:T | S553I | missense_variant | 0.95 | 0 |
3:179218334:A | R555K | missense_variant | 0.95 | 0 |
3:179218334:C | R555T | missense_variant | 0.95 | 0 |
3:179218334:T | R555I | missense_variant | 0.95 | 0 |
3:179220027:T | G664W | missense_variant | 0.95 | 0 |
3:179220027:C | G664R | missense_variant | 0.95 | 0 |
3:179220027:A | G664R | missense_variant | 0.95 | 0 |
3:179220022:T | R662M | missense_variant | 0.95 | 0 |
3:179220022:C | R662T | missense_variant | 0.95 | 0 |
3:179220022:A | R662K | missense_variant | 0.95 | 0 |
3:179220006:T | A657S | missense_variant | 0.95 | 0 |
3:179220006:C | A657P | missense_variant | 0.95 | 0 |
3:179220006:A | A657T | missense_variant | 0.95 | 0 |
3:179219989:T | R651I | missense_variant | 0.95 | 0 |
3:179219989:C | R651T | missense_variant | 0.95 | 0 |
3:179219989:A | R651K | missense_variant | 0.95 | 0 |
3:179219985:T | V650L | missense_variant | 0.95 | 0 |
3:179219985:C | V650L | missense_variant | 0.95 | 0 |
3:179219985:A | V650M | missense_variant | 0.95 | 0 |
3:179219973:T | D646Y | missense_variant | 0.95 | 0 |
3:179219973:C | D646H | missense_variant | 0.95 | 0 |
3:179219973:A | D646N | missense_variant | 0.95 | 0 |
3:179219961:C | E642Q | missense_variant | 0.95 | 0 |
3:179219961:A | E642K | missense_variant | 0.95 | 0 |
3:179219949:T | V638F | missense_variant | 0.95 | 0 |
3:179219949:C | V638L | missense_variant | 0.95 | 0 |
3:179219573:A | M583I | missense_variant | 0.95 | 0 |
3:179219573:C | M583I | missense_variant | 0.95 | 0 |
3:179219573:T | M583I | missense_variant | 0.95 | 0 |
3:179219578:A | C585Y | missense_variant | 0.95 | 0 |
3:179219578:C | C585S | missense_variant | 0.95 | 0 |
3:179219578:T | C585F | missense_variant | 0.95 | 0 |
3:179219589:A | D589N | missense_variant | 0.95 | 0 |
3:179219589:C | D589H | missense_variant | 0.95 | 0 |
3:179219589:T | D589Y | missense_variant | 0.95 | 0 |
3:179219593:C | W590S | missense_variant | 0.95 | 0 |
3:179219593:T | W590L | missense_variant | 0.95 | 0 |
3:179219594:C | W590C | missense_variant | 0.95 | 0 |
3:179219594:T | W590C | missense_variant | 0.95 | 0 |
3:179219610:A | E596K | missense_variant | 0.95 | 0 |
3:179219610:C | E596Q | missense_variant | 0.95 | 0 |
3:179219616:A | A598T | missense_variant | 0.95 | 0 |
3:179219616:C | A598P | missense_variant | 0.95 | 0 |
3:179219616:T | A598S | missense_variant | 0.95 | 0 |
3:179219621:A | M599I | missense_variant | 0.95 | 0 |
3:179219621:C | M599I | missense_variant | 0.95 | 0 |
3:179219621:T | M599I | missense_variant | 0.95 | 0 |
3:179219622:A | E600K | missense_variant | 0.95 | 0 |
3:179219622:C | E600Q | missense_variant | 0.95 | 0 |
3:179219631:A | D603N | missense_variant | 0.95 | 0 |
3:179219631:C | D603H | missense_variant | 0.95 | 0 |
3:179219631:T | D603Y | missense_variant | 0.95 | 0 |
3:179219646:A | D608N | missense_variant | 0.95 | 0 |
3:179219646:C | D608H | missense_variant | 0.95 | 0 |
3:179219646:T | D608Y | missense_variant | 0.95 | 0 |
3:179219659:A | R612Q | missense_variant | 0.95 | 0 |
3:179219659:C | R612P | missense_variant | 0.95 | 0 |
3:179219659:T | R612L | missense_variant | 0.95 | 0 |
3:179219667:A | A615T | missense_variant | 0.95 | 0 |
3:179219667:C | A615P | missense_variant | 0.95 | 0 |
3:179219667:T | A615S | missense_variant | 0.95 | 0 |
3:179219677:A | C618Y | missense_variant | 0.95 | 0 |
3:179219677:C | C618S | missense_variant | 0.95 | 0 |
3:179219677:T | C618F | missense_variant | 0.95 | 0 |
3:179219682:A | E620K | missense_variant | 0.95 | 0 |
3:179219682:C | E620Q | missense_variant | 0.95 | 0 |
3:179219697:A | D625N | missense_variant | 0.95 | 0 |
3:179219697:C | D625H | missense_variant | 0.95 | 0 |
3:179219697:T | D625Y | missense_variant | 0.95 | 0 |
3:179219700:A | D626N | missense_variant | 0.95 | 0 |
3:179219700:C | D626H | missense_variant | 0.95 | 0 |
3:179219700:T | D626Y | missense_variant | 0.95 | 0 |
3:179199095:G | C90W | missense_variant | 0.95 | 0 |
3:179210194:G | C420W | missense_variant | 0.95 | 0 |
3:179199093:G | C90G | missense_variant | 0.94 | 0 |
3:179199093:A | C90S | missense_variant | 0.94 | 0 |
3:179199093:C | C90R | missense_variant | 0.94 | 0 |
3:179234299:G | H1048D | missense_variant | 0.94 | 0 |
3:179234299:T | H1048Y | missense_variant | 0.94 | 0 |
3:179234299:A | H1048N | missense_variant | 0.94 | 0 |
3:179209689:C | G414R | missense_variant | 0.94 | 0 |
3:179209689:A | G414S | missense_variant | 0.94 | 0 |
3:179209684:T | R412L | missense_variant | 0.94 | 0 |
3:179209684:C | R412P | missense_variant | 0.94 | 0 |
3:179209681:T | G411V | missense_variant | 0.94 | 0 |
3:179209681:C | G411A | missense_variant | 0.94 | 0 |
3:179209681:A | G411D | missense_variant | 0.94 | 0 |
3:179209680:T | G411C | missense_variant | 0.94 | 0 |
3:179209680:C | G411R | missense_variant | 0.94 | 0 |
3:179209680:A | G411S | missense_variant | 0.94 | 0 |
3:179209674:A | V409I | missense_variant | 0.94 | 0 |
3:179209669:A | C407Y | missense_variant | 0.94 | 0 |
3:179209669:C | C407S | missense_variant | 0.94 | 0 |
3:179209698:C | E417Q | missense_variant | 0.94 | 0 |
3:179209690:T | G414V | missense_variant | 0.94 | 0 |
3:179209690:C | G414A | missense_variant | 0.94 | 0 |
3:179209690:A | G414D | missense_variant | 0.94 | 0 |
3:179209689:T | G414C | missense_variant | 0.94 | 0 |
3:179209669:T | C407F | missense_variant | 0.94 | 0 |
3:179209674:T | V409F | missense_variant | 0.94 | 0 |
3:179209674:C | V409L | missense_variant | 0.94 | 0 |
3:179218309:T | E547* | stop_gained | 0.93 | 0 |
3:179203765:G | N345K | missense_variant | 0.92 | 0 |
3:179204575:A | C378S | missense_variant | 0.92 | 0 |
3:179204575:C | C378R | missense_variant | 0.92 | 0 |
3:179204575:G | C378G | missense_variant | 0.92 | 0 |
3:179234242:T | D1029Y | missense_variant | 0.91 | 0 |
3:179234242:C | D1029H | missense_variant | 0.91 | 0 |
3:179234242:A | D1029N | missense_variant | 0.91 | 0 |
3:179218285:T | P539S | missense_variant | 0.89 | 0 |
3:179218286:A | P539H | missense_variant | 0.89 | 0 |
3:179218286:G | P539R | missense_variant | 0.89 | 0 |
3:179218286:T | P539L | missense_variant | 0.89 | 0 |
3:179218285:A | P539T | missense_variant | 0.89 | 0 |
3:179218285:G | P539A | missense_variant | 0.89 | 0 |
3:179198928:C | E35Q | missense_variant | 0.88 | 0 |
3:179198928:A | E35K | missense_variant | 0.88 | 0 |
3:179199015:T | D64Y | missense_variant | 0.88 | 0 |
3:179199015:C | D64H | missense_variant | 0.88 | 0 |
3:179199015:A | D64N | missense_variant | 0.88 | 0 |
3:179198986:T | R54I | missense_variant | 0.88 | 0 |
3:179198986:C | R54T | missense_variant | 0.88 | 0 |
3:179198986:A | R54K | missense_variant | 0.88 | 0 |
3:179198943:A | A40T | missense_variant | 0.88 | 0 |
3:179198982:T | A53S | missense_variant | 0.88 | 0 |
3:179198932:C | C36S | missense_variant | 0.88 | 0 |
3:179199042:T | V73F | missense_variant | 0.88 | 0 |
3:179198943:C | A40P | missense_variant | 0.88 | 0 |
3:179198943:T | A40S | missense_variant | 0.88 | 0 |
3:179199057:A | E78K | missense_variant | 0.88 | 0 |
3:179199057:C | E78Q | missense_variant | 0.88 | 0 |
3:179199036:C | V71L | missense_variant | 0.88 | 0 |
3:179199036:A | V71I | missense_variant | 0.88 | 0 |
3:179198932:T | C36F | missense_variant | 0.88 | 0 |
3:179199061:A | R79K | missense_variant | 0.88 | 0 |
3:179199061:C | R79T | missense_variant | 0.88 | 0 |
3:179199061:T | R79M | missense_variant | 0.88 | 0 |
3:179199063:A | E80K | missense_variant | 0.88 | 0 |
3:179199036:T | V71L | missense_variant | 0.88 | 0 |
3:179199040:A | S72N | missense_variant | 0.88 | 0 |
3:179199040:C | S72T | missense_variant | 0.88 | 0 |
3:179199040:T | S72I | missense_variant | 0.88 | 0 |
3:179199063:C | E80Q | missense_variant | 0.88 | 0 |
3:179198982:C | A53P | missense_variant | 0.88 | 0 |
3:179198982:A | A53T | missense_variant | 0.88 | 0 |
3:179198979:C | E52Q | missense_variant | 0.88 | 0 |
3:179198979:A | E52K | missense_variant | 0.88 | 0 |
3:179198967:C | E48Q | missense_variant | 0.88 | 0 |
3:179198967:A | E48K | missense_variant | 0.88 | 0 |
3:179199042:A | V73I | missense_variant | 0.88 | 0 |
3:179199042:C | V73L | missense_variant | 0.88 | 0 |
3:179199018:C | E65Q | missense_variant | 0.88 | 0 |
3:179199018:A | E65K | missense_variant | 0.88 | 0 |
3:179198932:A | C36Y | missense_variant | 0.88 | 0 |
3:179204588:C | R382T | missense_variant | 0.87 | 0 |
3:179204567:T | R375I | missense_variant | 0.87 | 0 |
3:179204567:C | R375T | missense_variant | 0.87 | 0 |
3:179204567:A | R375K | missense_variant | 0.87 | 0 |
3:179204554:T | V371L | missense_variant | 0.87 | 0 |
3:179204554:C | V371L | missense_variant | 0.87 | 0 |
3:179204554:A | V371M | missense_variant | 0.87 | 0 |
3:179204548:T | D369Y | missense_variant | 0.87 | 0 |
3:179204548:C | D369H | missense_variant | 0.87 | 0 |
3:179204548:A | D369N | missense_variant | 0.87 | 0 |
3:179204546:T | C368F | missense_variant | 0.87 | 0 |
3:179204546:C | C368S | missense_variant | 0.87 | 0 |
3:179204546:A | C368Y | missense_variant | 0.87 | 0 |
3:179204536:C | E365Q | missense_variant | 0.87 | 0 |
3:179204533:C | G364R | missense_variant | 0.87 | 0 |
3:179204533:A | G364R | missense_variant | 0.87 | 0 |
3:179204531:T | G363V | missense_variant | 0.87 | 0 |
3:179204531:C | G363A | missense_variant | 0.87 | 0 |
3:179204531:A | G363E | missense_variant | 0.87 | 0 |
3:179204530:C | G363R | missense_variant | 0.87 | 0 |
3:179204530:A | G363R | missense_variant | 0.87 | 0 |
3:179204519:T | G359V | missense_variant | 0.87 | 0 |
3:179204519:C | G359A | missense_variant | 0.87 | 0 |
3:179204519:A | G359D | missense_variant | 0.87 | 0 |
3:179204518:T | G359C | missense_variant | 0.87 | 0 |
3:179204518:C | G359R | missense_variant | 0.87 | 0 |
3:179204518:A | G359S | missense_variant | 0.87 | 0 |
3:179204513:T | R357L | missense_variant | 0.87 | 0 |
3:179204513:C | R357P | missense_variant | 0.87 | 0 |
3:179204513:A | R357Q | missense_variant | 0.87 | 0 |
3:179204509:T | V356F | missense_variant | 0.87 | 0 |
3:179204509:C | V356L | missense_variant | 0.87 | 0 |
3:179204509:A | V356I | missense_variant | 0.87 | 0 |
3:179204588:A | R382K | missense_variant | 0.87 | 0 |
3:179204569:A | V376I | missense_variant | 0.87 | 0 |
3:179204588:T | R382M | missense_variant | 0.87 | 0 |
3:179204569:T | V376L | missense_variant | 0.87 | 0 |
3:179204569:C | V376L | missense_variant | 0.87 | 0 |
3:179199096:T | D91Y | missense_variant | 0.86 | 0 |
3:179199051:A | E76K | missense_variant | 0.86 | 0 |
3:179199051:C | E76Q | missense_variant | 0.86 | 0 |
3:179199096:A | D91N | missense_variant | 0.86 | 0 |
3:179199096:C | D91H | missense_variant | 0.86 | 0 |
3:179218314:T | K548N | missense_variant | 0.85 | 0 |
3:179218314:C | K548N | missense_variant | 0.85 | 0 |
3:179203760:C | V344L | missense_variant | 0.81 | 0 |
3:179203760:T | V344L | missense_variant | 0.81 | 0 |
3:179203760:A | V344M | missense_variant | 0.81 | 0 |
3:179230308:T | L956F | missense_variant | 0.81 | 0 |
3:179199168:G | R115G | missense_variant | 0.81 | 0 |
3:179203764:T | N345I | missense_variant | 0.81 | 0 |
3:179203763:G | N345D | missense_variant | 0.81 | 0 |
3:179203763:T | N345Y | missense_variant | 0.81 | 0 |
3:179203764:C | N345T | missense_variant | 0.81 | 0 |
3:179203764:G | N345S | missense_variant | 0.81 | 0 |
3:179234278:G | K1041E | missense_variant | 0.80 | 0 |
3:179234278:C | K1041Q | missense_variant | 0.80 | 0 |
3:179234275:T | M1040L | missense_variant | 0.80 | 0 |
3:179234282:T | Q1042L | missense_variant | 0.80 | 0 |
3:179234275:C | M1040L | missense_variant | 0.80 | 0 |
3:179234275:G | M1040V | missense_variant | 0.80 | 0 |
3:179234282:G | Q1042R | missense_variant | 0.80 | 0 |
3:179234282:C | Q1042P | missense_variant | 0.80 | 0 |
3:179234279:T | K1041I | missense_variant | 0.80 | 0 |
3:179234279:G | K1041R | missense_variant | 0.80 | 0 |
3:179234279:C | K1041T | missense_variant | 0.80 | 0 |
3:179234244:G | D1029E | missense_variant | 0.80 | 0 |
3:179234244:A | D1029E | missense_variant | 0.80 | 0 |
3:179234205:G | F1016L | missense_variant | 0.80 | 0 |
3:179234205:A | F1016L | missense_variant | 0.80 | 0 |
3:179218279:G | R537G | missense_variant | 0.80 | 0 |
3:179198941:C | E39A | missense_variant | 0.79 | 0 |
3:179198941:T | E39V | missense_variant | 0.79 | 0 |
3:179198941:G | E39G | missense_variant | 0.79 | 0 |
3:179234283:T | Q1042H | missense_variant | 0.79 | 0 |
3:179234283:C | Q1042H | missense_variant | 0.79 | 0 |
3:179230306:G | L956V | missense_variant | 0.78 | 0 |
3:179230306:A | L956M | missense_variant | 0.78 | 0 |
3:179198915:C | M30I | missense_variant | 0.77 | 0 |
3:179198915:A | M30I | missense_variant | 0.77 | 0 |
3:179198915:T | M30I | missense_variant | 0.77 | 0 |
3:179218299:G | I543M | missense_variant | 0.77 | 0 |
3:179199085:T | R87I | missense_variant | 0.74 | 0 |
3:179199085:C | R87T | missense_variant | 0.74 | 0 |
3:179199132:A | E103K | missense_variant | 0.74 | 0 |
3:179199132:C | E103Q | missense_variant | 0.74 | 0 |
3:179209692:T | A415S | missense_variant | 0.73 | 0 |
3:179209692:A | A415T | missense_variant | 0.73 | 0 |
3:179209692:C | A415P | missense_variant | 0.73 | 0 |
3:179199103:T | R93L | missense_variant | 0.73 | 0 |
3:179199103:C | R93P | missense_variant | 0.73 | 0 |
3:179210232:A | T433K | missense_variant | 0.72 | 0 |
3:179210232:G | T433R | missense_variant | 0.72 | 0 |
3:179210232:T | T433I | missense_variant | 0.72 | 0 |
3:179198859:C | G12R | missense_variant | 0.71 | 0 |
3:179198859:A | G12S | missense_variant | 0.71 | 0 |
3:179198859:T | G12C | missense_variant | 0.71 | 0 |
3:179204540:T | P366L | missense_variant | 0.71 | 0 |
3:179204540:A | P366H | missense_variant | 0.71 | 0 |
3:179204540:G | P366R | missense_variant | 0.71 | 0 |
3:179210284:A | H450Q | missense_variant | 0.71 | 0 |
3:179210284:G | H450Q | missense_variant | 0.71 | 0 |
3:179210254:C | K440N | missense_variant | 0.69 | 0 |
3:179210254:T | K440N | missense_variant | 0.69 | 0 |
3:179199169:A | R115Q | missense_variant | 0.67 | 0 |
3:179199169:C | R115P | missense_variant | 0.67 | 0 |
3:179210469:A | S481R | missense_variant | 0.66 | 0 |
3:179210469:G | S481R | missense_variant | 0.66 | 0 |
3:179210266:G | N444K | missense_variant | 0.66 | 0 |
3:179210266:A | N444K | missense_variant | 0.66 | 0 |
3:179230313:G | Q958R | missense_variant | 0.65 | 0 |
3:179234243:T | D1029V | missense_variant | 0.65 | 0 |
3:179234243:G | D1029G | missense_variant | 0.65 | 0 |
3:179234243:C | D1029A | missense_variant | 0.65 | 0 |
3:179230313:C | Q958P | missense_variant | 0.65 | 0 |
3:179230313:T | Q958L | missense_variant | 0.65 | 0 |
3:179234311:T | T1052S | missense_variant | 0.65 | 0 |
3:179234311:G | T1052A | missense_variant | 0.65 | 0 |
3:179234311:C | T1052P | missense_variant | 0.65 | 0 |
3:179210458:T | D478Y | missense_variant | 0.64 | 0 |
3:179210458:A | D478N | missense_variant | 0.64 | 0 |
3:179210458:C | D478H | missense_variant | 0.64 | 0 |
3:179210446:A | E474K | missense_variant | 0.64 | 0 |
3:179210446:C | E474Q | missense_variant | 0.64 | 0 |
3:179209700:T | E417D | missense_variant | 0.64 | 0 |
3:179209700:C | E417D | missense_variant | 0.64 | 0 |
3:179209651:C | R401P | missense_variant | 0.64 | 0 |
3:179210257:T | M441I | missense_variant | 0.64 | 0 |
3:179210257:C | M441I | missense_variant | 0.64 | 0 |
3:179210257:A | M441I | missense_variant | 0.64 | 0 |
3:179209651:T | R401L | missense_variant | 0.64 | 0 |
3:179209651:A | R401Q | missense_variant | 0.64 | 0 |
3:179218297:C | I543L | missense_variant | 0.62 | 0 |
3:179218300:T | T544S | missense_variant | 0.62 | 0 |
3:179218300:G | T544A | missense_variant | 0.62 | 0 |
3:179218300:C | T544P | missense_variant | 0.62 | 0 |
3:179218297:T | I543F | missense_variant | 0.62 | 0 |
3:179218297:G | I543V | missense_variant | 0.62 | 0 |
3:179218283:T | D538V | missense_variant | 0.62 | 0 |
3:179218283:G | D538G | missense_variant | 0.62 | 0 |
3:179218283:C | D538A | missense_variant | 0.62 | 0 |
3:179210473:A | V483M | missense_variant | 0.61 | 0 |
3:179210473:C | V483L | missense_variant | 0.61 | 0 |
3:179210473:T | V483L | missense_variant | 0.61 | 0 |
3:179199113:C | Q96H | missense_variant | 0.61 | 0 |
3:179199113:T | Q96H | missense_variant | 0.61 | 0 |
3:179210470:G | S482G | missense_variant | 0.60 | 0 |
3:179210470:T | S482C | missense_variant | 0.60 | 0 |
3:179210470:C | S482R | missense_variant | 0.60 | 0 |
3:179230314:C | Q958H | missense_variant | 0.59 | 0 |
3:179230314:T | Q958H | missense_variant | 0.59 | 0 |
3:179210448:T | E474D | missense_variant | 0.59 | 0 |
3:179210448:C | E474D | missense_variant | 0.59 | 0 |
3:179210454:T | E476D | missense_variant | 0.58 | 0 |
3:179210454:C | E476D | missense_variant | 0.58 | 0 |
3:179218306:T | Q546* | stop_gained | 0.58 | 0 |
3:179234187:C | M1010I | missense_variant | 0.56 | 0 |
3:179234187:T | M1010I | missense_variant | 0.56 | 0 |
3:179234191:A | E1012K | missense_variant | 0.56 | 0 |
3:179234177:A | G1007D | missense_variant | 0.56 | 0 |
3:179234176:T | G1007C | missense_variant | 0.56 | 0 |
3:179234176:C | G1007R | missense_variant | 0.56 | 0 |
3:179234176:A | G1007S | missense_variant | 0.56 | 0 |
3:179234177:C | G1007A | missense_variant | 0.56 | 0 |
3:179234177:T | G1007V | missense_variant | 0.56 | 0 |
3:179234182:A | G1009R | missense_variant | 0.56 | 0 |
3:179234182:C | G1009R | missense_variant | 0.56 | 0 |
3:179234187:A | M1010I | missense_variant | 0.56 | 0 |
3:179218312:T | K548* | stop_gained | 0.56 | 0 |
3:179198836:A | R4Q | missense_variant | 0.56 | 0 |
3:179198836:C | R4P | missense_variant | 0.56 | 0 |
3:179198836:T | R4L | missense_variant | 0.56 | 0 |
3:179224754:C | W783C | missense_variant | 0.55 | 0 |
3:179224754:T | W783C | missense_variant | 0.55 | 0 |
3:179224755:A | E784K | missense_variant | 0.55 | 0 |
3:179224755:C | E784Q | missense_variant | 0.55 | 0 |
3:179224764:A | D787N | missense_variant | 0.55 | 0 |
3:179224764:C | D787H | missense_variant | 0.55 | 0 |
3:179224764:T | D787Y | missense_variant | 0.55 | 0 |
3:179224772:C | M789I | missense_variant | 0.55 | 0 |
3:179224772:T | M789I | missense_variant | 0.55 | 0 |
3:179224776:A | E791K | missense_variant | 0.55 | 0 |
3:179203557:T | C276F | missense_variant | 0.55 | 0 |
3:179224797:A | E798K | missense_variant | 0.55 | 0 |
3:179224797:C | E798Q | missense_variant | 0.55 | 0 |
3:179224815:A | G804R | missense_variant | 0.55 | 0 |
3:179224815:C | G804R | missense_variant | 0.55 | 0 |
3:179224815:T | G804W | missense_variant | 0.55 | 0 |
3:179224816:A | G804E | missense_variant | 0.55 | 0 |
3:179224816:C | G804A | missense_variant | 0.55 | 0 |
3:179224816:T | G804V | missense_variant | 0.55 | 0 |
3:179224818:A | D805N | missense_variant | 0.55 | 0 |
3:179224818:C | D805H | missense_variant | 0.55 | 0 |
3:179224818:T | D805Y | missense_variant | 0.55 | 0 |
3:179224821:A | D806N | missense_variant | 0.55 | 0 |
3:179224821:C | D806H | missense_variant | 0.55 | 0 |
3:179224821:T | D806Y | missense_variant | 0.55 | 0 |
3:179203557:C | C276S | missense_variant | 0.55 | 0 |
3:179203557:A | C276Y | missense_variant | 0.55 | 0 |
3:179230348:A | E970K | missense_variant | 0.55 | 0 |
3:179230348:C | E970Q | missense_variant | 0.55 | 0 |
3:179230366:A | E976K | missense_variant | 0.55 | 0 |
3:179230366:C | E976Q | missense_variant | 0.55 | 0 |
3:179203551:T | R274I | missense_variant | 0.55 | 0 |
3:179203551:C | R274T | missense_variant | 0.55 | 0 |
3:179201319:T | V198F | missense_variant | 0.55 | 0 |
3:179201319:C | V198L | missense_variant | 0.55 | 0 |
3:179224772:A | M789I | missense_variant | 0.55 | 0 |
3:179203605:T | S292I | missense_variant | 0.55 | 0 |
3:179203605:C | S292T | missense_variant | 0.55 | 0 |
3:179203605:A | S292N | missense_variant | 0.55 | 0 |
3:179203601:C | E291Q | missense_variant | 0.55 | 0 |
3:179203601:A | E291K | missense_variant | 0.55 | 0 |
3:179224704:A | E767K | missense_variant | 0.55 | 0 |
3:179224704:C | E767Q | missense_variant | 0.55 | 0 |
3:179224707:A | E768K | missense_variant | 0.55 | 0 |
3:179224707:C | E768Q | missense_variant | 0.55 | 0 |
3:179224711:A | C769Y | missense_variant | 0.55 | 0 |
3:179224711:C | C769S | missense_variant | 0.55 | 0 |
3:179224711:T | C769F | missense_variant | 0.55 | 0 |
3:179224714:A | R770Q | missense_variant | 0.55 | 0 |
3:179224714:C | R770P | missense_variant | 0.55 | 0 |
3:179224714:T | R770L | missense_variant | 0.55 | 0 |
3:179224721:A | M772I | missense_variant | 0.55 | 0 |
3:179224721:C | M772I | missense_variant | 0.55 | 0 |
3:179224721:T | M772I | missense_variant | 0.55 | 0 |
3:179224728:A | A775T | missense_variant | 0.55 | 0 |
3:179224728:C | A775P | missense_variant | 0.55 | 0 |
3:179224728:T | A775S | missense_variant | 0.55 | 0 |
3:179224735:A | R777K | missense_variant | 0.55 | 0 |
3:179224735:C | R777T | missense_variant | 0.55 | 0 |
3:179224735:T | R777M | missense_variant | 0.55 | 0 |
3:179224744:C | W780S | missense_variant | 0.55 | 0 |
3:179224744:T | W780L | missense_variant | 0.55 | 0 |
3:179224745:C | W780C | missense_variant | 0.55 | 0 |
3:179224745:T | W780C | missense_variant | 0.55 | 0 |
3:179224753:C | W783S | missense_variant | 0.55 | 0 |
3:179224753:T | W783L | missense_variant | 0.55 | 0 |
3:179201319:A | V198I | missense_variant | 0.55 | 0 |
3:179201313:T | V196L | missense_variant | 0.55 | 0 |
3:179201313:C | V196L | missense_variant | 0.55 | 0 |
3:179201313:A | V196I | missense_variant | 0.55 | 0 |
3:179201312:T | W195C | missense_variant | 0.55 | 0 |
3:179201312:C | W195C | missense_variant | 0.55 | 0 |
3:179201311:T | W195L | missense_variant | 0.55 | 0 |
3:179201311:C | W195S | missense_variant | 0.55 | 0 |
3:179201304:T | V193L | missense_variant | 0.55 | 0 |
3:179201304:C | V193L | missense_variant | 0.55 | 0 |
3:179201304:A | V193M | missense_variant | 0.55 | 0 |
3:179201301:T | V192L | missense_variant | 0.55 | 0 |
3:179201301:C | V192L | missense_variant | 0.55 | 0 |
3:179201301:A | V192M | missense_variant | 0.55 | 0 |
3:179201290:T | G188V | missense_variant | 0.55 | 0 |
3:179201290:C | G188A | missense_variant | 0.55 | 0 |
3:179201290:A | G188E | missense_variant | 0.55 | 0 |
3:179198925:G | L34V | missense_variant | 0.55 | 0 |
3:179198925:A | L34I | missense_variant | 0.55 | 0 |
3:179198960:G | I45M | missense_variant | 0.55 | 0 |
3:179219263:A | D578N | missense_variant | 0.54 | 0 |
3:179219263:C | D578H | missense_variant | 0.54 | 0 |
3:179219263:T | D578Y | missense_variant | 0.54 | 0 |
3:179219266:A | E579K | missense_variant | 0.54 | 0 |
3:179219266:C | E579Q | missense_variant | 0.54 | 0 |
3:179219277:C | Q582H | missense_variant | 0.54 | 0 |
3:179219204:C | C558S | missense_variant | 0.54 | 0 |
3:179219204:T | C558F | missense_variant | 0.54 | 0 |
3:179219253:T | W574C | missense_variant | 0.54 | 0 |
3:179219218:A | E563K | missense_variant | 0.54 | 0 |
3:179219218:C | E563Q | missense_variant | 0.54 | 0 |
3:179219252:T | W574L | missense_variant | 0.54 | 0 |
3:179219204:A | C558Y | missense_variant | 0.54 | 0 |
3:179219245:A | V572I | missense_variant | 0.54 | 0 |
3:179219245:C | V572L | missense_variant | 0.54 | 0 |
3:179219245:T | V572F | missense_variant | 0.54 | 0 |
3:179219252:C | W574S | missense_variant | 0.54 | 0 |
3:179219277:T | Q582H | missense_variant | 0.54 | 0 |
3:179219261:A | R577K | missense_variant | 0.54 | 0 |
3:179219253:C | W574C | missense_variant | 0.54 | 0 |
3:179219261:C | R577T | missense_variant | 0.54 | 0 |
3:179219261:T | R577I | missense_variant | 0.54 | 0 |
3:179210288:A | L452I | missense_variant | 0.53 | 0 |
3:179210288:G | L452V | missense_variant | 0.53 | 0 |
3:179198985:G | R54G | missense_variant | 0.52 | 0 |
3:179218284:G | D538E | missense_variant | 0.52 | 0 |
3:179218284:A | D538E | missense_variant | 0.52 | 0 |
3:179199074:G | F83L | missense_variant | 0.51 | 0 |
3:179199074:A | F83L | missense_variant | 0.51 | 0 |
3:179209604:T | E385D | missense_variant | 0.50 | 0 |
3:179209604:C | E385D | missense_variant | 0.50 | 0 |
3:179199150:A | E109K | missense_variant | 0.50 | 0 |
3:179199150:C | E109Q | missense_variant | 0.50 | 0 |
3:179198949:G | L42V | missense_variant | 0.50 | 0 |
3:179198949:A | L42I | missense_variant | 0.50 | 0 |
3:179209611:G | N388D | missense_variant | 0.50 | 0 |
3:179209611:T | N388Y | missense_variant | 0.50 | 0 |
3:179209611:C | N388H | missense_variant | 0.50 | 0 |
3:179203786:G | D352E | missense_variant | 0.50 | 0 |
3:179203786:A | D352E | missense_variant | 0.50 | 0 |
3:179210305:G | N457K | missense_variant | 0.50 | 0 |
3:179210305:A | N457K | missense_variant | 0.50 | 0 |
3:179199077:G | D84E | missense_variant | 0.50 | 0 |
3:179199077:A | D84E | missense_variant | 0.50 | 0 |
Cancer type | Selected cancer type | Mutational discovery Index | Feature Complexity |
---|---|---|---|
(BLCA) Bladder cancer | BLCA | 0.64 | 0.20 |