Mutation | AA change | Consequence type | BoostDM score | IntOGen frequency |
---|---|---|---|---|
6:394972:G | K123R | missense_variant | 1.00 | 15 |
6:394900:C | C99S | missense_variant | 0.98 | 5 |
6:394920:T | D106Y | missense_variant | 0.98 | 4 |
6:394954:T | D117V | missense_variant | 0.99 | 1 |
6:394920:C | D106H | missense_variant | 0.98 | 1 |
6:393328:G | K59R | missense_variant | 0.96 | 1 |
6:394965:A | P121T | missense_variant | 0.91 | 1 |
6:394951:G | L116R | missense_variant | 0.81 | 1 |
6:401730:G | E351G | missense_variant | 0.80 | 1 |
6:394971:C | K123Q | missense_variant | 1.00 | 0 |
6:394972:T | K123I | missense_variant | 1.00 | 0 |
6:394972:C | K123T | missense_variant | 1.00 | 0 |
6:394971:G | K123E | missense_variant | 1.00 | 0 |
6:394971:T | K123* | stop_gained | 1.00 | 0 |
6:394969:C | Y122S | missense_variant | 0.99 | 0 |
6:394969:G | Y122C | missense_variant | 0.99 | 0 |
6:394969:T | Y122F | missense_variant | 0.99 | 0 |
6:394954:G | D117G | missense_variant | 0.99 | 0 |
6:394954:C | D117A | missense_variant | 0.99 | 0 |
6:394912:G | K103R | missense_variant | 0.99 | 0 |
6:394912:T | K103M | missense_variant | 0.99 | 0 |
6:394911:G | K103E | missense_variant | 0.99 | 0 |
6:394911:C | K103Q | missense_variant | 0.99 | 0 |
6:394912:C | K103T | missense_variant | 0.99 | 0 |
6:394911:T | K103* | stop_gained | 0.99 | 0 |
6:394948:T | Q115L | missense_variant | 0.99 | 0 |
6:394948:G | Q115R | missense_variant | 0.99 | 0 |
6:394887:G | T95A | missense_variant | 0.99 | 0 |
6:394887:T | T95S | missense_variant | 0.99 | 0 |
6:394948:C | Q115P | missense_variant | 0.99 | 0 |
6:394978:C | Y125S | missense_variant | 0.99 | 0 |
6:394870:G | D89G | missense_variant | 0.99 | 0 |
6:394878:C | T92P | missense_variant | 0.99 | 0 |
6:394944:T | S114C | missense_variant | 0.99 | 0 |
6:394944:G | S114G | missense_variant | 0.99 | 0 |
6:394944:C | S114R | missense_variant | 0.99 | 0 |
6:394878:G | T92A | missense_variant | 0.99 | 0 |
6:394878:T | T92S | missense_variant | 0.99 | 0 |
6:394870:T | D89V | missense_variant | 0.99 | 0 |
6:394939:T | E112V | missense_variant | 0.99 | 0 |
6:394939:G | E112G | missense_variant | 0.99 | 0 |
6:394939:C | E112A | missense_variant | 0.99 | 0 |
6:394983:G | I127V | missense_variant | 0.99 | 0 |
6:394870:C | D89A | missense_variant | 0.99 | 0 |
6:394927:C | E108A | missense_variant | 0.99 | 0 |
6:394921:G | D106G | missense_variant | 0.99 | 0 |
6:394921:C | D106A | missense_variant | 0.99 | 0 |
6:394914:C | S104R | missense_variant | 0.99 | 0 |
6:394914:G | S104G | missense_variant | 0.99 | 0 |
6:394914:T | S104C | missense_variant | 0.99 | 0 |
6:394917:T | N105Y | missense_variant | 0.99 | 0 |
6:394917:G | N105D | missense_variant | 0.99 | 0 |
6:394917:C | N105H | missense_variant | 0.99 | 0 |
6:394884:C | K94Q | missense_variant | 0.99 | 0 |
6:394983:T | I127F | missense_variant | 0.99 | 0 |
6:394884:G | K94E | missense_variant | 0.99 | 0 |
6:394885:C | K94T | missense_variant | 0.99 | 0 |
6:394963:T | D120V | missense_variant | 0.99 | 0 |
6:394963:G | D120G | missense_variant | 0.99 | 0 |
6:394963:C | D120A | missense_variant | 0.99 | 0 |
6:394983:C | I127L | missense_variant | 0.99 | 0 |
6:394978:T | Y125F | missense_variant | 0.99 | 0 |
6:394978:G | Y125C | missense_variant | 0.99 | 0 |
6:394885:G | K94R | missense_variant | 0.99 | 0 |
6:394885:T | K94M | missense_variant | 0.99 | 0 |
6:394887:C | T95P | missense_variant | 0.99 | 0 |
6:394956:T | I118F | missense_variant | 0.99 | 0 |
6:394956:G | I118V | missense_variant | 0.99 | 0 |
6:394956:C | I118L | missense_variant | 0.99 | 0 |
6:394909:T | N102I | missense_variant | 0.99 | 0 |
6:394927:T | E108V | missense_variant | 0.99 | 0 |
6:394927:G | E108G | missense_variant | 0.99 | 0 |
6:394921:T | D106V | missense_variant | 0.99 | 0 |
6:394930:T | E109V | missense_variant | 0.99 | 0 |
6:394930:G | E109G | missense_variant | 0.99 | 0 |
6:394930:C | E109A | missense_variant | 0.99 | 0 |
6:394908:C | N102H | missense_variant | 0.99 | 0 |
6:394908:G | N102D | missense_variant | 0.99 | 0 |
6:394908:T | N102Y | missense_variant | 0.99 | 0 |
6:394909:C | N102T | missense_variant | 0.99 | 0 |
6:394909:G | N102S | missense_variant | 0.99 | 0 |
6:394953:A | D117N | missense_variant | 0.99 | 0 |
6:394953:C | D117H | missense_variant | 0.99 | 0 |
6:394953:T | D117Y | missense_variant | 0.99 | 0 |
6:394884:T | K94* | stop_gained | 0.98 | 0 |
6:394915:A | S104N | missense_variant | 0.98 | 0 |
6:394974:T | V124L | missense_variant | 0.98 | 0 |
6:394974:C | V124L | missense_variant | 0.98 | 0 |
6:394974:A | V124M | missense_variant | 0.98 | 0 |
6:394962:T | D120Y | missense_variant | 0.98 | 0 |
6:394962:C | D120H | missense_variant | 0.98 | 0 |
6:394962:A | D120N | missense_variant | 0.98 | 0 |
6:394945:T | S114I | missense_variant | 0.98 | 0 |
6:394945:C | S114T | missense_variant | 0.98 | 0 |
6:394945:A | S114N | missense_variant | 0.98 | 0 |
6:394942:T | R113L | missense_variant | 0.98 | 0 |
6:394942:C | R113P | missense_variant | 0.98 | 0 |
6:394942:A | R113Q | missense_variant | 0.98 | 0 |
6:394938:C | E112Q | missense_variant | 0.98 | 0 |
6:394938:A | E112K | missense_variant | 0.98 | 0 |
6:394929:C | E109Q | missense_variant | 0.98 | 0 |
6:394929:A | E109K | missense_variant | 0.98 | 0 |
6:394920:A | D106N | missense_variant | 0.98 | 0 |
6:394915:T | S104I | missense_variant | 0.98 | 0 |
6:394915:C | S104T | missense_variant | 0.98 | 0 |
6:394902:T | A100S | missense_variant | 0.98 | 0 |
6:394902:C | A100P | missense_variant | 0.98 | 0 |
6:394902:A | A100T | missense_variant | 0.98 | 0 |
6:394900:T | C99F | missense_variant | 0.98 | 0 |
6:394900:A | C99Y | missense_variant | 0.98 | 0 |
6:394897:T | R98L | missense_variant | 0.98 | 0 |
6:394897:C | R98P | missense_variant | 0.98 | 0 |
6:394897:A | R98Q | missense_variant | 0.98 | 0 |
6:394891:T | R96L | missense_variant | 0.98 | 0 |
6:394891:C | R96P | missense_variant | 0.98 | 0 |
6:394891:A | R96H | missense_variant | 0.98 | 0 |
6:394869:A | D89N | missense_variant | 0.98 | 0 |
6:394869:C | D89H | missense_variant | 0.98 | 0 |
6:394869:T | D89Y | missense_variant | 0.98 | 0 |
6:394883:T | W93C | missense_variant | 0.98 | 0 |
6:394883:C | W93C | missense_variant | 0.98 | 0 |
6:394882:T | W93L | missense_variant | 0.98 | 0 |
6:394882:C | W93S | missense_variant | 0.98 | 0 |
6:394861:T | D86V | missense_variant | 0.98 | 0 |
6:394861:G | D86G | missense_variant | 0.98 | 0 |
6:394861:C | D86A | missense_variant | 0.98 | 0 |
6:394852:C | E83A | missense_variant | 0.98 | 0 |
6:394852:T | E83V | missense_variant | 0.98 | 0 |
6:394864:T | K87M | missense_variant | 0.98 | 0 |
6:394852:G | E83G | missense_variant | 0.98 | 0 |
6:394864:C | K87T | missense_variant | 0.98 | 0 |
6:394863:G | K87E | missense_variant | 0.98 | 0 |
6:394864:G | K87R | missense_variant | 0.98 | 0 |
6:394863:C | K87Q | missense_variant | 0.98 | 0 |
6:394855:C | G84A | missense_variant | 0.98 | 0 |
6:394851:C | E83Q | missense_variant | 0.98 | 0 |
6:394851:A | E83K | missense_variant | 0.98 | 0 |
6:394860:T | D86Y | missense_variant | 0.98 | 0 |
6:394860:C | D86H | missense_variant | 0.98 | 0 |
6:394860:A | D86N | missense_variant | 0.98 | 0 |
6:394855:T | G84V | missense_variant | 0.98 | 0 |
6:394855:A | G84D | missense_variant | 0.98 | 0 |
6:394854:T | G84C | missense_variant | 0.98 | 0 |
6:394854:C | G84R | missense_variant | 0.98 | 0 |
6:394854:A | G84S | missense_variant | 0.98 | 0 |
6:394883:A | W93* | stop_gained | 0.98 | 0 |
6:394882:A | W93* | stop_gained | 0.98 | 0 |
6:394929:T | E109* | stop_gained | 0.98 | 0 |
6:394938:T | E112* | stop_gained | 0.98 | 0 |
6:394863:T | K87* | stop_gained | 0.98 | 0 |
6:393232:C | W27S | missense_variant | 0.98 | 0 |
6:393240:T | D30Y | missense_variant | 0.98 | 0 |
6:393240:A | D30N | missense_variant | 0.98 | 0 |
6:393233:T | W27C | missense_variant | 0.98 | 0 |
6:393233:C | W27C | missense_variant | 0.98 | 0 |
6:393226:T | R25L | missense_variant | 0.98 | 0 |
6:393232:T | W27L | missense_variant | 0.98 | 0 |
6:393226:C | R25P | missense_variant | 0.98 | 0 |
6:393226:A | R25H | missense_variant | 0.98 | 0 |
6:393240:C | D30H | missense_variant | 0.98 | 0 |
6:393354:C | A68P | missense_variant | 0.98 | 0 |
6:393351:C | D67H | missense_variant | 0.98 | 0 |
6:393351:T | D67Y | missense_variant | 0.98 | 0 |
6:393354:A | A68T | missense_variant | 0.98 | 0 |
6:393351:A | D67N | missense_variant | 0.98 | 0 |
6:393368:T | K72N | missense_variant | 0.98 | 0 |
6:393368:C | K72N | missense_variant | 0.98 | 0 |
6:393354:T | A68S | missense_variant | 0.98 | 0 |
6:393345:A | E65K | missense_variant | 0.98 | 0 |
6:393321:A | A57T | missense_variant | 0.98 | 0 |
6:393321:C | A57P | missense_variant | 0.98 | 0 |
6:393321:T | A57S | missense_variant | 0.98 | 0 |
6:393324:A | G58S | missense_variant | 0.98 | 0 |
6:393324:C | G58R | missense_variant | 0.98 | 0 |
6:393324:T | G58C | missense_variant | 0.98 | 0 |
6:393325:A | G58D | missense_variant | 0.98 | 0 |
6:393325:C | G58A | missense_variant | 0.98 | 0 |
6:393325:T | G58V | missense_variant | 0.98 | 0 |
6:393333:A | D61N | missense_variant | 0.98 | 0 |
6:393333:C | D61H | missense_variant | 0.98 | 0 |
6:393333:T | D61Y | missense_variant | 0.98 | 0 |
6:393345:C | E65Q | missense_variant | 0.98 | 0 |
6:393348:A | E66K | missense_variant | 0.98 | 0 |
6:393348:C | E66Q | missense_variant | 0.98 | 0 |
6:394851:T | E83* | stop_gained | 0.98 | 0 |
6:393313:T | W54L | missense_variant | 0.98 | 0 |
6:393314:T | W54C | missense_variant | 0.98 | 0 |
6:394821:T | A73S | missense_variant | 0.98 | 0 |
6:393313:C | W54S | missense_variant | 0.98 | 0 |
6:393314:C | W54C | missense_variant | 0.98 | 0 |
6:394825:T | W74L | missense_variant | 0.98 | 0 |
6:394825:C | W74S | missense_variant | 0.98 | 0 |
6:394821:C | A73P | missense_variant | 0.98 | 0 |
6:394821:A | A73T | missense_variant | 0.98 | 0 |
6:393278:C | W42C | missense_variant | 0.97 | 0 |
6:393277:T | W42L | missense_variant | 0.97 | 0 |
6:393277:C | W42S | missense_variant | 0.97 | 0 |
6:393268:T | G39V | missense_variant | 0.97 | 0 |
6:393268:C | G39A | missense_variant | 0.97 | 0 |
6:393268:A | G39E | missense_variant | 0.97 | 0 |
6:393267:T | G39W | missense_variant | 0.97 | 0 |
6:393279:A | E43K | missense_variant | 0.97 | 0 |
6:393304:C | R51P | missense_variant | 0.97 | 0 |
6:393304:A | R51H | missense_variant | 0.97 | 0 |
6:393288:C | E46Q | missense_variant | 0.97 | 0 |
6:393288:A | E46K | missense_variant | 0.97 | 0 |
6:393285:C | E45Q | missense_variant | 0.97 | 0 |
6:393285:A | E45K | missense_variant | 0.97 | 0 |
6:393279:C | E43Q | missense_variant | 0.97 | 0 |
6:393304:T | R51L | missense_variant | 0.97 | 0 |
6:393278:T | W42C | missense_variant | 0.97 | 0 |
6:393267:C | G39R | missense_variant | 0.97 | 0 |
6:393267:A | G39R | missense_variant | 0.97 | 0 |
6:393249:T | D33Y | missense_variant | 0.97 | 0 |
6:393249:C | D33H | missense_variant | 0.97 | 0 |
6:393249:A | D33N | missense_variant | 0.97 | 0 |
6:394827:T | A75S | missense_variant | 0.97 | 0 |
6:394826:C | W74C | missense_variant | 0.97 | 0 |
6:394826:T | W74C | missense_variant | 0.97 | 0 |
6:394827:A | A75T | missense_variant | 0.97 | 0 |
6:394827:C | A75P | missense_variant | 0.97 | 0 |
6:394840:T | G79V | missense_variant | 0.97 | 0 |
6:394840:C | G79A | missense_variant | 0.97 | 0 |
6:394840:A | G79E | missense_variant | 0.97 | 0 |
6:394839:C | G79R | missense_variant | 0.97 | 0 |
6:394839:A | G79R | missense_variant | 0.97 | 0 |
6:393232:A | W27* | stop_gained | 0.97 | 0 |
6:393233:A | W27* | stop_gained | 0.97 | 0 |
6:393368:A | K72K | splice_region_variant | 0.97 | 0 |
6:393348:T | E66* | stop_gained | 0.97 | 0 |
6:393345:T | E65* | stop_gained | 0.97 | 0 |
6:393314:A | W54* | stop_gained | 0.97 | 0 |
6:393313:A | W54* | stop_gained | 0.97 | 0 |
6:394825:A | W74* | stop_gained | 0.97 | 0 |
6:393288:T | E46* | stop_gained | 0.97 | 0 |
6:393277:A | W42* | stop_gained | 0.97 | 0 |
6:393279:T | E43* | stop_gained | 0.97 | 0 |
6:393285:T | E45* | stop_gained | 0.97 | 0 |
6:393278:A | W42* | stop_gained | 0.97 | 0 |
6:394826:A | W74* | stop_gained | 0.97 | 0 |
6:394839:T | G79* | stop_gained | 0.97 | 0 |
6:393327:C | K59Q | missense_variant | 0.96 | 0 |
6:393327:G | K59E | missense_variant | 0.96 | 0 |
6:393328:C | K59T | missense_variant | 0.96 | 0 |
6:393328:T | K59M | missense_variant | 0.96 | 0 |
6:393258:G | K36E | missense_variant | 0.96 | 0 |
6:393258:C | K36Q | missense_variant | 0.96 | 0 |
6:393327:T | K59* | stop_gained | 0.95 | 0 |
6:393258:T | K36* | stop_gained | 0.95 | 0 |
6:393334:C | D61A | missense_variant | 0.94 | 0 |
6:393334:G | D61G | missense_variant | 0.94 | 0 |
6:393334:T | D61V | missense_variant | 0.94 | 0 |
6:393337:C | Y62S | missense_variant | 0.94 | 0 |
6:393337:G | Y62C | missense_variant | 0.94 | 0 |
6:393337:T | Y62F | missense_variant | 0.94 | 0 |
6:393339:C | N63H | missense_variant | 0.94 | 0 |
6:393339:G | N63D | missense_variant | 0.94 | 0 |
6:393339:T | N63Y | missense_variant | 0.94 | 0 |
6:393340:C | N63T | missense_variant | 0.94 | 0 |
6:393340:G | N63S | missense_variant | 0.94 | 0 |
6:393340:T | N63I | missense_variant | 0.94 | 0 |
6:393346:C | E65A | missense_variant | 0.94 | 0 |
6:393346:T | E65V | missense_variant | 0.94 | 0 |
6:393346:G | E65G | missense_variant | 0.94 | 0 |
6:393331:C | Q60P | missense_variant | 0.94 | 0 |
6:393331:G | Q60R | missense_variant | 0.94 | 0 |
6:393331:T | Q60L | missense_variant | 0.94 | 0 |
6:393291:G | K47E | missense_variant | 0.94 | 0 |
6:393250:C | D33A | missense_variant | 0.94 | 0 |
6:393250:G | D33G | missense_variant | 0.94 | 0 |
6:393250:T | D33V | missense_variant | 0.94 | 0 |
6:393262:C | Y37S | missense_variant | 0.94 | 0 |
6:393262:G | Y37C | missense_variant | 0.94 | 0 |
6:393262:T | Y37F | missense_variant | 0.94 | 0 |
6:393280:C | E43A | missense_variant | 0.94 | 0 |
6:393306:T | I52F | missense_variant | 0.94 | 0 |
6:393306:G | I52V | missense_variant | 0.94 | 0 |
6:393306:C | I52L | missense_variant | 0.94 | 0 |
6:393280:G | E43G | missense_variant | 0.94 | 0 |
6:393280:T | E43V | missense_variant | 0.94 | 0 |
6:393282:C | N44H | missense_variant | 0.94 | 0 |
6:393282:G | N44D | missense_variant | 0.94 | 0 |
6:393282:T | N44Y | missense_variant | 0.94 | 0 |
6:393283:C | N44T | missense_variant | 0.94 | 0 |
6:393283:G | N44S | missense_variant | 0.94 | 0 |
6:393283:T | N44I | missense_variant | 0.94 | 0 |
6:393289:C | E46A | missense_variant | 0.94 | 0 |
6:393289:G | E46G | missense_variant | 0.94 | 0 |
6:393289:T | E46V | missense_variant | 0.94 | 0 |
6:393291:C | K47Q | missense_variant | 0.94 | 0 |
6:394843:G | K80R | missense_variant | 0.94 | 0 |
6:394837:T | K78I | missense_variant | 0.94 | 0 |
6:394837:G | K78R | missense_variant | 0.94 | 0 |
6:394837:C | K78T | missense_variant | 0.94 | 0 |
6:394843:T | K80M | missense_variant | 0.94 | 0 |
6:394836:G | K78E | missense_variant | 0.94 | 0 |
6:394836:C | K78Q | missense_variant | 0.94 | 0 |
6:394842:G | K80E | missense_variant | 0.94 | 0 |
6:394842:C | K80Q | missense_variant | 0.94 | 0 |
6:394843:C | K80T | missense_variant | 0.94 | 0 |
6:393367:G | K72R | missense_variant | 0.94 | 0 |
6:393366:G | K72E | missense_variant | 0.94 | 0 |
6:393352:C | D67A | missense_variant | 0.94 | 0 |
6:393352:G | D67G | missense_variant | 0.94 | 0 |
6:393352:T | D67V | missense_variant | 0.94 | 0 |
6:393366:C | K72Q | missense_variant | 0.94 | 0 |
6:393367:T | K72M | missense_variant | 0.94 | 0 |
6:393367:C | K72T | missense_variant | 0.94 | 0 |
6:393319:T | H56L | missense_variant | 0.94 | 0 |
6:393315:C | K55Q | missense_variant | 0.94 | 0 |
6:393315:G | K55E | missense_variant | 0.94 | 0 |
6:393316:C | K55T | missense_variant | 0.94 | 0 |
6:393316:G | K55R | missense_variant | 0.94 | 0 |
6:393316:T | K55M | missense_variant | 0.94 | 0 |
6:393319:C | H56P | missense_variant | 0.94 | 0 |
6:393319:G | H56R | missense_variant | 0.94 | 0 |
6:393237:G | I29V | missense_variant | 0.94 | 0 |
6:393244:C | Q31P | missense_variant | 0.94 | 0 |
6:393241:T | D30V | missense_variant | 0.94 | 0 |
6:393241:G | D30G | missense_variant | 0.94 | 0 |
6:393237:T | I29F | missense_variant | 0.94 | 0 |
6:393244:G | Q31R | missense_variant | 0.94 | 0 |
6:393237:C | I29L | missense_variant | 0.94 | 0 |
6:393241:C | D30A | missense_variant | 0.94 | 0 |
6:393229:T | Q26L | missense_variant | 0.94 | 0 |
6:393244:T | Q31L | missense_variant | 0.94 | 0 |
6:393229:C | Q26P | missense_variant | 0.94 | 0 |
6:393229:G | Q26R | missense_variant | 0.94 | 0 |
6:393291:T | K47* | stop_gained | 0.93 | 0 |
6:394842:T | K80* | stop_gained | 0.92 | 0 |
6:394836:T | K78* | stop_gained | 0.92 | 0 |
6:393366:T | K72* | stop_gained | 0.92 | 0 |
6:393315:T | K55* | stop_gained | 0.92 | 0 |
6:394966:G | P121R | missense_variant | 0.91 | 0 |
6:394966:T | P121L | missense_variant | 0.91 | 0 |
6:394966:A | P121Q | missense_variant | 0.91 | 0 |
6:394965:T | P121S | missense_variant | 0.91 | 0 |
6:394965:G | P121A | missense_variant | 0.91 | 0 |
6:394968:C | Y122H | missense_variant | 0.88 | 0 |
6:394968:G | Y122D | missense_variant | 0.88 | 0 |
6:394968:A | Y122N | missense_variant | 0.88 | 0 |
6:394857:T | I85F | missense_variant | 0.86 | 0 |
6:394857:C | I85L | missense_variant | 0.86 | 0 |
6:394857:G | I85V | missense_variant | 0.86 | 0 |
6:393253:T | S34I | missense_variant | 0.84 | 0 |
6:393253:A | S34N | missense_variant | 0.84 | 0 |
6:393253:C | S34T | missense_variant | 0.84 | 0 |
6:401724:G | K349R | missense_variant | 0.84 | 0 |
6:401747:C | K357Q | missense_variant | 0.84 | 0 |
6:401747:G | K357E | missense_variant | 0.84 | 0 |
6:401724:C | K349T | missense_variant | 0.84 | 0 |
6:401724:T | K349I | missense_variant | 0.84 | 0 |
6:393322:A | A57E | missense_variant | 0.82 | 0 |
6:393330:A | Q60K | missense_variant | 0.82 | 0 |
6:393322:T | A57V | missense_variant | 0.82 | 0 |
6:393322:G | A57G | missense_variant | 0.82 | 0 |
6:393330:G | Q60E | missense_variant | 0.82 | 0 |
6:394924:C | F107S | missense_variant | 0.81 | 0 |
6:394924:A | F107Y | missense_variant | 0.81 | 0 |
6:394923:G | F107V | missense_variant | 0.81 | 0 |
6:394923:C | F107L | missense_variant | 0.81 | 0 |
6:394923:A | F107I | missense_variant | 0.81 | 0 |
6:394894:A | L97Q | missense_variant | 0.81 | 0 |
6:394894:C | L97P | missense_variant | 0.81 | 0 |
6:394894:G | L97R | missense_variant | 0.81 | 0 |
6:394975:A | V124E | missense_variant | 0.81 | 0 |
6:394987:G | V128G | missense_variant | 0.81 | 0 |
6:394987:C | V128A | missense_variant | 0.81 | 0 |
6:394987:A | V128D | missense_variant | 0.81 | 0 |
6:394975:G | V124G | missense_variant | 0.81 | 0 |
6:394975:C | V124A | missense_variant | 0.81 | 0 |
6:394984:G | I127S | missense_variant | 0.81 | 0 |
6:394984:C | I127T | missense_variant | 0.81 | 0 |
6:394984:A | I127N | missense_variant | 0.81 | 0 |
6:394977:G | Y125D | missense_variant | 0.81 | 0 |
6:394977:C | Y125H | missense_variant | 0.81 | 0 |
6:394977:A | Y125N | missense_variant | 0.81 | 0 |
6:394957:A | I118N | missense_variant | 0.81 | 0 |
6:394957:G | I118S | missense_variant | 0.81 | 0 |
6:394959:A | S119T | missense_variant | 0.81 | 0 |
6:394951:C | L116P | missense_variant | 0.81 | 0 |
6:394951:A | L116Q | missense_variant | 0.81 | 0 |
6:394959:C | S119P | missense_variant | 0.81 | 0 |
6:394906:C | L101S | missense_variant | 0.81 | 0 |
6:394906:G | L101W | missense_variant | 0.81 | 0 |
6:394881:A | W93R | missense_variant | 0.81 | 0 |
6:394881:C | W93R | missense_variant | 0.81 | 0 |
6:394881:G | W93G | missense_variant | 0.81 | 0 |
6:394959:G | S119A | missense_variant | 0.81 | 0 |
6:394899:A | C99S | missense_variant | 0.81 | 0 |
6:394933:G | L110R | missense_variant | 0.81 | 0 |
6:394933:C | L110P | missense_variant | 0.81 | 0 |
6:394933:A | L110Q | missense_variant | 0.81 | 0 |
6:394899:C | C99R | missense_variant | 0.81 | 0 |
6:394899:G | C99G | missense_variant | 0.81 | 0 |
6:394924:G | F107C | missense_variant | 0.81 | 0 |
6:394957:C | I118T | missense_variant | 0.81 | 0 |
6:394849:C | R82P | missense_variant | 0.81 | 0 |
6:394849:T | R82L | missense_variant | 0.81 | 0 |
6:394849:A | R82Q | missense_variant | 0.81 | 0 |
6:405129:T | H404L | missense_variant | 0.80 | 0 |
6:401424:C | D249A | missense_variant | 0.80 | 0 |
6:401424:G | D249G | missense_variant | 0.80 | 0 |
6:401424:T | D249V | missense_variant | 0.80 | 0 |
6:401436:C | H253P | missense_variant | 0.80 | 0 |
6:401436:G | H253R | missense_variant | 0.80 | 0 |
6:401436:T | H253L | missense_variant | 0.80 | 0 |
6:401457:C | E260A | missense_variant | 0.80 | 0 |
6:401457:G | E260G | missense_variant | 0.80 | 0 |
6:401457:T | E260V | missense_variant | 0.80 | 0 |
6:401472:C | E265A | missense_variant | 0.80 | 0 |
6:401472:G | E265G | missense_variant | 0.80 | 0 |
6:401472:T | E265V | missense_variant | 0.80 | 0 |
6:401477:C | T267P | missense_variant | 0.80 | 0 |
6:401477:G | T267A | missense_variant | 0.80 | 0 |
6:401477:T | T267S | missense_variant | 0.80 | 0 |
6:401486:C | S270R | missense_variant | 0.80 | 0 |
6:401486:G | S270G | missense_variant | 0.80 | 0 |
6:401486:T | S270C | missense_variant | 0.80 | 0 |
6:401493:C | E272A | missense_variant | 0.80 | 0 |
6:401493:G | E272G | missense_variant | 0.80 | 0 |
6:401493:T | E272V | missense_variant | 0.80 | 0 |
6:401643:C | D322A | missense_variant | 0.80 | 0 |
6:401643:G | D322G | missense_variant | 0.80 | 0 |
6:401643:T | D322V | missense_variant | 0.80 | 0 |
6:401652:C | Y325S | missense_variant | 0.80 | 0 |
6:401652:G | Y325C | missense_variant | 0.80 | 0 |
6:401652:T | Y325F | missense_variant | 0.80 | 0 |
6:401720:C | N348H | missense_variant | 0.80 | 0 |
6:401720:G | N348D | missense_variant | 0.80 | 0 |
6:401720:T | N348Y | missense_variant | 0.80 | 0 |
6:401721:C | N348T | missense_variant | 0.80 | 0 |
6:401721:G | N348S | missense_variant | 0.80 | 0 |
6:401721:T | N348I | missense_variant | 0.80 | 0 |
6:401730:C | E351A | missense_variant | 0.80 | 0 |
6:401730:T | E351V | missense_variant | 0.80 | 0 |
6:405018:C | E367A | missense_variant | 0.80 | 0 |
6:405018:G | E367G | missense_variant | 0.80 | 0 |
6:405018:T | E367V | missense_variant | 0.80 | 0 |
6:405084:C | E389A | missense_variant | 0.80 | 0 |
6:405084:G | E389G | missense_variant | 0.80 | 0 |
6:405084:T | E389V | missense_variant | 0.80 | 0 |
6:405087:C | E390A | missense_variant | 0.80 | 0 |
6:405087:G | E390G | missense_variant | 0.80 | 0 |
6:405087:T | E390V | missense_variant | 0.80 | 0 |
6:405096:C | D393A | missense_variant | 0.80 | 0 |
6:405096:G | D393G | missense_variant | 0.80 | 0 |
6:405096:T | D393V | missense_variant | 0.80 | 0 |
6:405102:C | Q395P | missense_variant | 0.80 | 0 |
6:405102:G | Q395R | missense_variant | 0.80 | 0 |
6:405102:T | Q395L | missense_variant | 0.80 | 0 |
6:405129:C | H404P | missense_variant | 0.80 | 0 |
6:405129:G | H404R | missense_variant | 0.80 | 0 |
6:394903:T | A100V | missense_variant | 0.79 | 0 |
6:394888:G | T95R | missense_variant | 0.79 | 0 |
6:394903:A | A100D | missense_variant | 0.79 | 0 |
6:394888:T | T95M | missense_variant | 0.79 | 0 |
6:394879:A | T92N | missense_variant | 0.79 | 0 |
6:394947:A | Q115K | missense_variant | 0.79 | 0 |
6:394947:G | Q115E | missense_variant | 0.79 | 0 |
6:394879:T | T92I | missense_variant | 0.79 | 0 |
6:394876:T | P91L | missense_variant | 0.79 | 0 |
6:394876:G | P91R | missense_variant | 0.79 | 0 |
6:394876:A | P91H | missense_variant | 0.79 | 0 |
6:394873:T | P90L | missense_variant | 0.79 | 0 |
6:394873:G | P90R | missense_variant | 0.79 | 0 |
6:394873:A | P90H | missense_variant | 0.79 | 0 |
6:394879:G | T92S | missense_variant | 0.79 | 0 |
6:394872:T | P90S | missense_variant | 0.79 | 0 |
6:394872:G | P90A | missense_variant | 0.79 | 0 |
6:394872:A | P90T | missense_variant | 0.79 | 0 |
6:394960:T | S119L | missense_variant | 0.79 | 0 |
6:394888:A | T95K | missense_variant | 0.79 | 0 |
6:394903:G | A100G | missense_variant | 0.79 | 0 |
6:401759:G | T361A | missense_variant | 0.79 | 0 |
6:401759:T | T361S | missense_variant | 0.79 | 0 |
6:395001:C | K133Q | missense_variant | 0.79 | 0 |
6:395001:G | K133E | missense_variant | 0.79 | 0 |
6:395002:T | K133I | missense_variant | 0.79 | 0 |
6:395002:C | K133T | missense_variant | 0.79 | 0 |
6:395002:G | K133R | missense_variant | 0.79 | 0 |
6:394993:C | E130A | missense_variant | 0.79 | 0 |
6:401757:T | D360V | missense_variant | 0.79 | 0 |
6:401759:C | T361P | missense_variant | 0.79 | 0 |
6:395004:C | K134Q | missense_variant | 0.79 | 0 |
6:395004:G | K134E | missense_variant | 0.79 | 0 |
6:394993:T | E130V | missense_variant | 0.79 | 0 |
6:394993:G | E130G | missense_variant | 0.79 | 0 |
6:401757:C | D360A | missense_variant | 0.79 | 0 |
6:401757:G | D360G | missense_variant | 0.79 | 0 |
6:401580:T | R301M | missense_variant | 0.79 | 0 |
6:401580:A | R301K | missense_variant | 0.79 | 0 |
6:401580:C | R301T | missense_variant | 0.79 | 0 |
6:401747:T | K357* | stop_gained | 0.79 | 0 |
6:393243:G | Q31E | missense_variant | 0.77 | 0 |
6:393318:G | H56D | missense_variant | 0.77 | 0 |
6:393318:T | H56Y | missense_variant | 0.77 | 0 |
6:393243:A | Q31K | missense_variant | 0.77 | 0 |
6:393228:G | Q26E | missense_variant | 0.77 | 0 |
6:393228:A | Q26K | missense_variant | 0.77 | 0 |
6:394822:A | A73D | missense_variant | 0.77 | 0 |
6:394822:G | A73G | missense_variant | 0.77 | 0 |
6:393318:A | H56N | missense_variant | 0.77 | 0 |
6:394822:T | A73V | missense_variant | 0.77 | 0 |
6:394926:A | E108K | missense_variant | 0.77 | 0 |
6:394926:C | E108Q | missense_variant | 0.77 | 0 |
6:393330:T | Q60* | stop_gained | 0.77 | 0 |
6:393358:A | A69E | missense_variant | 0.76 | 0 |
6:393355:G | A68G | missense_variant | 0.76 | 0 |
6:393355:A | A68D | missense_variant | 0.76 | 0 |
6:393355:T | A68V | missense_variant | 0.76 | 0 |
6:393358:T | A69V | missense_variant | 0.76 | 0 |
6:393358:G | A69G | missense_variant | 0.76 | 0 |
6:394906:A | L101* | stop_gained | 0.76 | 0 |
6:394867:G | P88R | missense_variant | 0.76 | 0 |
6:394867:A | P88Q | missense_variant | 0.76 | 0 |
6:394867:T | P88L | missense_variant | 0.76 | 0 |
6:394833:G | F77V | missense_variant | 0.75 | 0 |
6:394833:C | F77L | missense_variant | 0.75 | 0 |
6:394833:A | F77I | missense_variant | 0.75 | 0 |
6:394831:G | L76R | missense_variant | 0.75 | 0 |
6:394831:C | L76P | missense_variant | 0.75 | 0 |
6:394831:A | L76Q | missense_variant | 0.75 | 0 |
6:395004:T | K134* | stop_gained | 0.74 | 0 |
6:395001:T | K133* | stop_gained | 0.74 | 0 |
6:394960:G | S119* | stop_gained | 0.74 | 0 |
6:394960:A | S119* | stop_gained | 0.74 | 0 |
6:394947:T | Q115* | stop_gained | 0.74 | 0 |
6:393309:G | P53A | missense_variant | 0.74 | 0 |
6:393310:T | P53L | missense_variant | 0.74 | 0 |
6:393310:G | P53R | missense_variant | 0.74 | 0 |
6:393265:G | P38R | missense_variant | 0.74 | 0 |
6:393309:T | P53S | missense_variant | 0.74 | 0 |
6:393310:A | P53H | missense_variant | 0.74 | 0 |
6:393265:A | P38H | missense_variant | 0.74 | 0 |
6:393309:A | P53T | missense_variant | 0.74 | 0 |
6:393265:T | P38L | missense_variant | 0.74 | 0 |
6:393336:G | Y62D | missense_variant | 0.73 | 0 |
6:393336:A | Y62N | missense_variant | 0.73 | 0 |
6:393336:C | Y62H | missense_variant | 0.73 | 0 |
6:394828:G | A75G | missense_variant | 0.73 | 0 |
6:394828:A | A75E | missense_variant | 0.73 | 0 |
6:394828:T | A75V | missense_variant | 0.73 | 0 |
6:401642:A | D322N | missense_variant | 0.73 | 0 |
6:394992:A | E130K | missense_variant | 0.73 | 0 |
6:394992:C | E130Q | missense_variant | 0.73 | 0 |
6:394995:A | G131R | missense_variant | 0.73 | 0 |
6:394995:C | G131R | missense_variant | 0.73 | 0 |
6:394996:A | G131E | missense_variant | 0.73 | 0 |
6:394996:C | G131A | missense_variant | 0.73 | 0 |
6:394996:T | G131V | missense_variant | 0.73 | 0 |
6:401456:A | E260K | missense_variant | 0.73 | 0 |
6:401456:C | E260Q | missense_variant | 0.73 | 0 |
6:401777:A | E367K | missense_variant | 0.73 | 0 |
6:401777:C | E367Q | missense_variant | 0.73 | 0 |
6:401465:A | V263M | missense_variant | 0.73 | 0 |
6:401465:C | V263L | missense_variant | 0.73 | 0 |
6:401465:T | V263L | missense_variant | 0.73 | 0 |
6:401471:A | E265K | missense_variant | 0.73 | 0 |
6:401471:C | E265Q | missense_variant | 0.73 | 0 |
6:405095:C | D393H | missense_variant | 0.73 | 0 |
6:405095:T | D393Y | missense_variant | 0.73 | 0 |
6:405111:C | R398T | missense_variant | 0.73 | 0 |
6:405045:A | R376H | missense_variant | 0.73 | 0 |
6:405045:C | R376P | missense_variant | 0.73 | 0 |
6:405045:T | R376L | missense_variant | 0.73 | 0 |
6:405080:A | G388R | missense_variant | 0.73 | 0 |
6:405080:C | G388R | missense_variant | 0.73 | 0 |
6:405081:A | G388E | missense_variant | 0.73 | 0 |
6:405081:C | G388A | missense_variant | 0.73 | 0 |
6:401495:A | G273S | missense_variant | 0.73 | 0 |
6:401495:C | G273R | missense_variant | 0.73 | 0 |
6:401495:T | G273C | missense_variant | 0.73 | 0 |
6:401496:A | G273D | missense_variant | 0.73 | 0 |
6:401496:C | G273A | missense_variant | 0.73 | 0 |
6:401496:T | G273V | missense_variant | 0.73 | 0 |
6:401499:A | C274Y | missense_variant | 0.73 | 0 |
6:401499:C | C274S | missense_variant | 0.73 | 0 |
6:401499:T | C274F | missense_variant | 0.73 | 0 |
6:401591:A | E305K | missense_variant | 0.73 | 0 |
6:401591:C | E305Q | missense_variant | 0.73 | 0 |
6:401618:A | G314S | missense_variant | 0.73 | 0 |
6:401618:C | G314R | missense_variant | 0.73 | 0 |
6:401618:T | G314C | missense_variant | 0.73 | 0 |
6:401619:A | G314D | missense_variant | 0.73 | 0 |
6:401619:C | G314A | missense_variant | 0.73 | 0 |
6:401619:T | G314V | missense_variant | 0.73 | 0 |
6:401631:C | W318S | missense_variant | 0.73 | 0 |
6:401631:T | W318L | missense_variant | 0.73 | 0 |
6:401632:C | W318C | missense_variant | 0.73 | 0 |
6:401632:T | W318C | missense_variant | 0.73 | 0 |
6:401635:A | M319I | missense_variant | 0.73 | 0 |
6:401635:C | M319I | missense_variant | 0.73 | 0 |
6:401635:T | M319I | missense_variant | 0.73 | 0 |
6:401642:C | D322H | missense_variant | 0.73 | 0 |
6:401642:T | D322Y | missense_variant | 0.73 | 0 |
6:405081:T | G388V | missense_variant | 0.73 | 0 |
6:405083:A | E389K | missense_variant | 0.73 | 0 |
6:405083:C | E389Q | missense_variant | 0.73 | 0 |
6:401645:A | G323R | missense_variant | 0.73 | 0 |
6:401645:C | G323R | missense_variant | 0.73 | 0 |
6:401645:T | G323W | missense_variant | 0.73 | 0 |
6:401646:A | G323E | missense_variant | 0.73 | 0 |
6:401646:C | G323A | missense_variant | 0.73 | 0 |
6:401646:T | G323V | missense_variant | 0.73 | 0 |
6:405111:T | R398I | missense_variant | 0.73 | 0 |
6:405125:A | A403T | missense_variant | 0.73 | 0 |
6:401654:A | A326T | missense_variant | 0.73 | 0 |
6:401654:C | A326P | missense_variant | 0.73 | 0 |
6:401654:T | A326S | missense_variant | 0.73 | 0 |
6:401661:A | R328K | missense_variant | 0.73 | 0 |
6:401661:C | R328T | missense_variant | 0.73 | 0 |
6:401661:T | R328I | missense_variant | 0.73 | 0 |
6:401667:A | C330Y | missense_variant | 0.73 | 0 |
6:401667:C | C330S | missense_variant | 0.73 | 0 |
6:401667:T | C330F | missense_variant | 0.73 | 0 |
6:401676:A | R333K | missense_variant | 0.73 | 0 |
6:401676:C | R333T | missense_variant | 0.73 | 0 |
6:401676:T | R333M | missense_variant | 0.73 | 0 |
6:401685:C | W336S | missense_variant | 0.73 | 0 |
6:401685:T | W336L | missense_variant | 0.73 | 0 |
6:405125:C | A403P | missense_variant | 0.73 | 0 |
6:405086:A | E390K | missense_variant | 0.73 | 0 |
6:405086:C | E390Q | missense_variant | 0.73 | 0 |
6:405125:T | A403S | missense_variant | 0.73 | 0 |
6:401729:A | E351K | missense_variant | 0.73 | 0 |
6:401729:C | E351Q | missense_variant | 0.73 | 0 |
6:405111:A | R398K | missense_variant | 0.73 | 0 |
6:405095:A | D393N | missense_variant | 0.73 | 0 |
6:401735:A | D353N | missense_variant | 0.73 | 0 |
6:401735:C | D353H | missense_variant | 0.73 | 0 |
6:401735:T | D353Y | missense_variant | 0.73 | 0 |
6:393363:A | F71I | missense_variant | 0.73 | 0 |
6:393364:C | F71S | missense_variant | 0.73 | 0 |
6:393361:G | L70R | missense_variant | 0.73 | 0 |
6:393361:C | L70P | missense_variant | 0.73 | 0 |
6:393363:C | F71L | missense_variant | 0.73 | 0 |
6:393361:A | L70H | missense_variant | 0.73 | 0 |
6:393364:A | F71Y | missense_variant | 0.73 | 0 |
6:393364:G | F71C | missense_variant | 0.73 | 0 |
6:393363:G | F71V | missense_variant | 0.73 | 0 |
6:394824:C | W74R | missense_variant | 0.73 | 0 |
6:394824:G | W74G | missense_variant | 0.73 | 0 |
6:394824:A | W74R | missense_variant | 0.73 | 0 |
6:393298:A | I49N | missense_variant | 0.73 | 0 |
6:393312:A | W54R | missense_variant | 0.73 | 0 |
6:393312:C | W54R | missense_variant | 0.73 | 0 |
6:393312:G | W54G | missense_variant | 0.73 | 0 |
6:393307:A | I52N | missense_variant | 0.73 | 0 |
6:393301:G | F50C | missense_variant | 0.73 | 0 |
6:393301:C | F50S | missense_variant | 0.73 | 0 |
6:393301:A | F50Y | missense_variant | 0.73 | 0 |
6:393300:G | F50V | missense_variant | 0.73 | 0 |
6:393300:C | F50L | missense_variant | 0.73 | 0 |
6:393300:A | F50I | missense_variant | 0.73 | 0 |
6:393298:G | I49S | missense_variant | 0.73 | 0 |
6:393298:C | I49T | missense_variant | 0.73 | 0 |
6:393307:C | I52T | missense_variant | 0.73 | 0 |
6:393307:G | I52S | missense_variant | 0.73 | 0 |
6:393271:A | L40Q | missense_variant | 0.73 | 0 |
6:393261:A | Y37N | missense_variant | 0.73 | 0 |
6:393274:C | V41A | missense_variant | 0.73 | 0 |
6:393271:G | L40R | missense_variant | 0.73 | 0 |
6:393271:C | L40P | missense_variant | 0.73 | 0 |
6:393274:G | V41G | missense_variant | 0.73 | 0 |
6:393276:C | W42R | missense_variant | 0.73 | 0 |
6:393276:G | W42G | missense_variant | 0.73 | 0 |
6:393261:C | Y37H | missense_variant | 0.73 | 0 |
6:393261:G | Y37D | missense_variant | 0.73 | 0 |
6:393274:A | V41E | missense_variant | 0.73 | 0 |
6:393276:A | W42R | missense_variant | 0.73 | 0 |
6:393256:C | G35A | missense_variant | 0.73 | 0 |
6:393256:A | G35D | missense_variant | 0.73 | 0 |
6:393256:T | G35V | missense_variant | 0.73 | 0 |
6:393247:G | I32S | missense_variant | 0.73 | 0 |
6:393235:A | L28Q | missense_variant | 0.73 | 0 |
6:393235:C | L28P | missense_variant | 0.73 | 0 |
6:393235:G | L28R | missense_variant | 0.73 | 0 |
6:393238:A | I29N | missense_variant | 0.73 | 0 |
6:393238:C | I29T | missense_variant | 0.73 | 0 |
6:393238:G | I29S | missense_variant | 0.73 | 0 |
6:393247:A | I32N | missense_variant | 0.73 | 0 |
6:393247:C | I32T | missense_variant | 0.73 | 0 |
6:393223:G | L24R | missense_variant | 0.73 | 0 |
6:393223:A | L24H | missense_variant | 0.73 | 0 |
6:393223:C | L24P | missense_variant | 0.73 | 0 |
6:393231:A | W27R | missense_variant | 0.73 | 0 |
6:393231:C | W27R | missense_variant | 0.73 | 0 |
6:393231:G | W27G | missense_variant | 0.73 | 0 |
6:393228:T | Q26* | stop_gained | 0.72 | 0 |
6:393243:T | Q31* | stop_gained | 0.72 | 0 |
6:394926:T | E108* | stop_gained | 0.71 | 0 |
6:401612:A | E312K | missense_variant | 0.68 | 0 |
6:401612:C | E312Q | missense_variant | 0.68 | 0 |
6:405080:T | G388* | stop_gained | 0.68 | 0 |
6:401591:T | E305* | stop_gained | 0.68 | 0 |
6:405086:T | E390* | stop_gained | 0.68 | 0 |
6:401777:T | E367* | stop_gained | 0.68 | 0 |
6:401471:T | E265* | stop_gained | 0.68 | 0 |
6:401631:A | W318* | stop_gained | 0.68 | 0 |
6:394992:T | E130* | stop_gained | 0.68 | 0 |
6:401632:A | W318* | stop_gained | 0.68 | 0 |
6:394995:T | G131* | stop_gained | 0.68 | 0 |
6:405083:T | E389* | stop_gained | 0.68 | 0 |
6:401685:A | W336* | stop_gained | 0.68 | 0 |
6:401456:T | E260* | stop_gained | 0.68 | 0 |
6:401729:T | E351* | stop_gained | 0.68 | 0 |
6:393211:A | G20D | missense_variant | 0.65 | 0 |
6:393217:A | G22E | missense_variant | 0.65 | 0 |
6:393211:T | G20V | missense_variant | 0.65 | 0 |
6:393217:C | G22A | missense_variant | 0.65 | 0 |
6:393217:T | G22V | missense_variant | 0.65 | 0 |
6:393211:C | G20A | missense_variant | 0.65 | 0 |
6:401612:T | E312* | stop_gained | 0.62 | 0 |
6:394918:T | N105I | missense_variant | 0.62 | 0 |
6:394918:C | N105T | missense_variant | 0.62 | 0 |
6:394918:G | N105S | missense_variant | 0.62 | 0 |
6:393292:C | K47T | missense_variant | 0.62 | 0 |
6:393292:G | K47R | missense_variant | 0.62 | 0 |
6:393292:T | K47M | missense_variant | 0.62 | 0 |
6:401613:G | E312G | missense_variant | 0.52 | 0 |
6:401613:T | E312V | missense_variant | 0.52 | 0 |
6:401613:C | E312A | missense_variant | 0.52 | 0 |
Cancer type | Selected cancer type | Mutational discovery Index | Feature Complexity |
---|---|---|---|
(MM) Multiple myeloma | MM | 0.56 | 0.15 |