Mutation | AA change | Consequence type | BoostDM score | IntOGen frequency |
---|---|---|---|---|
9:125149801:A | R301C | missense_variant | 1.00 | 22 |
9:125149782:A | S307L | missense_variant | 0.98 | 4 |
9:125153646:A | P223S | missense_variant | 1.00 | 3 |
9:125171093:A | H92Y | missense_variant | 0.85 | 3 |
9:125149816:A | P296S | missense_variant | 1.00 | 2 |
9:125153700:A | P205S | missense_variant | 0.98 | 2 |
9:125149704:A | P333L | missense_variant | 0.93 | 2 |
9:125149800:T | R301H | missense_variant | 0.73 | 2 |
9:125153673:A | R214* | stop_gained | 0.52 | 2 |
9:125149815:A | P296L | missense_variant | 1.00 | 1 |
9:125153606:A | P236L | missense_variant | 0.98 | 1 |
9:125153655:A | Q220* | stop_gained | 0.97 | 1 |
9:125158280:A | H151Y | missense_variant | 0.94 | 1 |
9:125158370:T | D121N | missense_variant | 0.66 | 1 |
9:125149801:C | R301G | missense_variant | 1.00 | 0 |
9:125149801:T | R301S | missense_variant | 1.00 | 0 |
9:125149816:T | P296T | missense_variant | 1.00 | 0 |
9:125149815:T | P296H | missense_variant | 1.00 | 0 |
9:125149816:C | P296A | missense_variant | 1.00 | 0 |
9:125149815:C | P296R | missense_variant | 1.00 | 0 |
9:125153646:T | P223T | missense_variant | 1.00 | 0 |
9:125153646:C | P223A | missense_variant | 1.00 | 0 |
9:125149726:A | P326S | missense_variant | 0.98 | 0 |
9:125149726:C | P326A | missense_variant | 0.98 | 0 |
9:125149726:T | P326T | missense_variant | 0.98 | 0 |
9:125149731:A | A324V | missense_variant | 0.98 | 0 |
9:125149731:C | A324G | missense_variant | 0.98 | 0 |
9:125149731:T | A324E | missense_variant | 0.98 | 0 |
9:125149746:A | P319L | missense_variant | 0.98 | 0 |
9:125149746:C | P319R | missense_variant | 0.98 | 0 |
9:125149746:T | P319Q | missense_variant | 0.98 | 0 |
9:125149747:A | P319S | missense_variant | 0.98 | 0 |
9:125149747:C | P319A | missense_variant | 0.98 | 0 |
9:125149747:T | P319T | missense_variant | 0.98 | 0 |
9:125149870:C | H278D | missense_variant | 0.98 | 0 |
9:125149870:A | H278Y | missense_variant | 0.98 | 0 |
9:125149830:T | T291K | missense_variant | 0.98 | 0 |
9:125149830:C | T291R | missense_variant | 0.98 | 0 |
9:125149830:A | T291I | missense_variant | 0.98 | 0 |
9:125149821:T | S294Y | missense_variant | 0.98 | 0 |
9:125149821:C | S294C | missense_variant | 0.98 | 0 |
9:125149821:A | S294F | missense_variant | 0.98 | 0 |
9:125149818:T | A295D | missense_variant | 0.98 | 0 |
9:125149782:C | S307W | missense_variant | 0.98 | 0 |
9:125149785:A | A306V | missense_variant | 0.98 | 0 |
9:125149785:C | A306G | missense_variant | 0.98 | 0 |
9:125149785:T | A306D | missense_variant | 0.98 | 0 |
9:125149818:C | A295G | missense_variant | 0.98 | 0 |
9:125149818:A | A295V | missense_variant | 0.98 | 0 |
9:125149915:T | H263N | missense_variant | 0.98 | 0 |
9:125149915:C | H263D | missense_variant | 0.98 | 0 |
9:125149915:A | H263Y | missense_variant | 0.98 | 0 |
9:125149907:T | N265K | missense_variant | 0.98 | 0 |
9:125149907:C | N265K | missense_variant | 0.98 | 0 |
9:125149897:T | L269I | missense_variant | 0.98 | 0 |
9:125149897:C | L269V | missense_variant | 0.98 | 0 |
9:125149897:A | L269F | missense_variant | 0.98 | 0 |
9:125149884:T | A273E | missense_variant | 0.98 | 0 |
9:125149884:C | A273G | missense_variant | 0.98 | 0 |
9:125149884:A | A273V | missense_variant | 0.98 | 0 |
9:125149882:T | H274N | missense_variant | 0.98 | 0 |
9:125149882:C | H274D | missense_variant | 0.98 | 0 |
9:125149882:A | H274Y | missense_variant | 0.98 | 0 |
9:125149879:T | Q275K | missense_variant | 0.98 | 0 |
9:125149879:C | Q275E | missense_variant | 0.98 | 0 |
9:125149870:T | H278N | missense_variant | 0.98 | 0 |
9:125149719:A | S328L | missense_variant | 0.98 | 0 |
9:125149725:A | P326L | missense_variant | 0.98 | 0 |
9:125149725:C | P326R | missense_variant | 0.98 | 0 |
9:125149725:T | P326Q | missense_variant | 0.98 | 0 |
9:125149782:T | S307* | stop_gained | 0.98 | 0 |
9:125149719:T | S328* | stop_gained | 0.98 | 0 |
9:125149719:C | S328* | stop_gained | 0.98 | 0 |
9:125149879:A | Q275* | stop_gained | 0.98 | 0 |
9:125153576:A | P246L | missense_variant | 0.98 | 0 |
9:125153540:A | T258I | missense_variant | 0.98 | 0 |
9:125153540:C | T258R | missense_variant | 0.98 | 0 |
9:125153540:T | T258K | missense_variant | 0.98 | 0 |
9:125153549:A | A255V | missense_variant | 0.98 | 0 |
9:125153549:C | A255G | missense_variant | 0.98 | 0 |
9:125153549:T | A255E | missense_variant | 0.98 | 0 |
9:125153567:A | A249V | missense_variant | 0.98 | 0 |
9:125153567:C | A249G | missense_variant | 0.98 | 0 |
9:125153567:T | A249E | missense_variant | 0.98 | 0 |
9:125153576:C | P246R | missense_variant | 0.98 | 0 |
9:125153576:T | P246H | missense_variant | 0.98 | 0 |
9:125153577:A | P246S | missense_variant | 0.98 | 0 |
9:125153577:C | P246A | missense_variant | 0.98 | 0 |
9:125153577:T | P246T | missense_variant | 0.98 | 0 |
9:125153585:A | A243V | missense_variant | 0.98 | 0 |
9:125153585:C | A243G | missense_variant | 0.98 | 0 |
9:125153585:T | A243D | missense_variant | 0.98 | 0 |
9:125153591:A | T241I | missense_variant | 0.98 | 0 |
9:125153591:C | T241S | missense_variant | 0.98 | 0 |
9:125153591:T | T241N | missense_variant | 0.98 | 0 |
9:125153606:C | P236R | missense_variant | 0.98 | 0 |
9:125153606:T | P236H | missense_variant | 0.98 | 0 |
9:125153607:A | P236S | missense_variant | 0.98 | 0 |
9:125153607:C | P236A | missense_variant | 0.98 | 0 |
9:125153607:T | P236T | missense_variant | 0.98 | 0 |
9:125153612:A | S234L | missense_variant | 0.98 | 0 |
9:125153633:A | A227V | missense_variant | 0.98 | 0 |
9:125153633:C | A227G | missense_variant | 0.98 | 0 |
9:125153633:T | A227E | missense_variant | 0.98 | 0 |
9:125153643:A | H224Y | missense_variant | 0.98 | 0 |
9:125153643:C | H224D | missense_variant | 0.98 | 0 |
9:125153643:T | H224N | missense_variant | 0.98 | 0 |
9:125153655:C | Q220E | missense_variant | 0.98 | 0 |
9:125153655:T | Q220K | missense_variant | 0.98 | 0 |
9:125153669:A | T215I | missense_variant | 0.98 | 0 |
9:125153669:C | T215S | missense_variant | 0.98 | 0 |
9:125153669:T | T215N | missense_variant | 0.98 | 0 |
9:125153679:C | Q212E | missense_variant | 0.98 | 0 |
9:125153679:T | Q212K | missense_variant | 0.98 | 0 |
9:125153687:A | T209I | missense_variant | 0.98 | 0 |
9:125153687:C | T209R | missense_variant | 0.98 | 0 |
9:125153687:T | T209K | missense_variant | 0.98 | 0 |
9:125153699:A | P205L | missense_variant | 0.98 | 0 |
9:125153699:C | P205R | missense_variant | 0.98 | 0 |
9:125153699:T | P205H | missense_variant | 0.98 | 0 |
9:125153700:C | P205A | missense_variant | 0.98 | 0 |
9:125153700:T | P205T | missense_variant | 0.98 | 0 |
9:125153702:A | S204F | missense_variant | 0.98 | 0 |
9:125153702:C | S204C | missense_variant | 0.98 | 0 |
9:125153702:T | S204Y | missense_variant | 0.98 | 0 |
9:125153715:A | H200Y | missense_variant | 0.98 | 0 |
9:125153715:C | H200D | missense_variant | 0.98 | 0 |
9:125153715:T | H200N | missense_variant | 0.98 | 0 |
9:125153730:C | Q195E | missense_variant | 0.98 | 0 |
9:125153730:T | Q195K | missense_variant | 0.98 | 0 |
9:125153910:A | A189V | missense_variant | 0.98 | 0 |
9:125153910:C | A189G | missense_variant | 0.98 | 0 |
9:125153910:T | A189E | missense_variant | 0.98 | 0 |
9:125153916:A | T187I | missense_variant | 0.98 | 0 |
9:125153916:C | T187R | missense_variant | 0.98 | 0 |
9:125153916:T | T187K | missense_variant | 0.98 | 0 |
9:125153937:A | T180I | missense_variant | 0.98 | 0 |
9:125153937:C | T180S | missense_variant | 0.98 | 0 |
9:125153937:T | T180N | missense_variant | 0.98 | 0 |
9:125153952:A | A175V | missense_variant | 0.98 | 0 |
9:125153952:C | A175G | missense_variant | 0.98 | 0 |
9:125153952:T | A175D | missense_variant | 0.98 | 0 |
9:125153958:A | A173V | missense_variant | 0.98 | 0 |
9:125153958:C | A173G | missense_variant | 0.98 | 0 |
9:125153958:T | A173D | missense_variant | 0.98 | 0 |
9:125153973:A | T168I | missense_variant | 0.98 | 0 |
9:125153973:C | T168S | missense_variant | 0.98 | 0 |
9:125153973:T | T168N | missense_variant | 0.98 | 0 |
9:125153977:C | Q167E | missense_variant | 0.98 | 0 |
9:125153977:T | Q167K | missense_variant | 0.98 | 0 |
9:125153612:T | S234* | stop_gained | 0.97 | 0 |
9:125153612:C | S234* | stop_gained | 0.97 | 0 |
9:125153977:A | Q167* | stop_gained | 0.97 | 0 |
9:125153730:A | Q195* | stop_gained | 0.97 | 0 |
9:125153679:A | Q212* | stop_gained | 0.97 | 0 |
9:125158259:C | Q158E | missense_variant | 0.94 | 0 |
9:125158280:T | H151N | missense_variant | 0.94 | 0 |
9:125158280:C | H151D | missense_variant | 0.94 | 0 |
9:125158259:T | Q158K | missense_variant | 0.94 | 0 |
9:125158339:C | T131S | missense_variant | 0.94 | 0 |
9:125158345:T | T129N | missense_variant | 0.94 | 0 |
9:125158345:C | T129S | missense_variant | 0.94 | 0 |
9:125158345:A | T129I | missense_variant | 0.94 | 0 |
9:125158339:T | T131N | missense_variant | 0.94 | 0 |
9:125158339:A | T131I | missense_variant | 0.94 | 0 |
9:125158259:A | Q158* | stop_gained | 0.94 | 0 |
9:125149687:C | P339A | missense_variant | 0.93 | 0 |
9:125149687:A | P339S | missense_variant | 0.93 | 0 |
9:125149686:T | P339Q | missense_variant | 0.93 | 0 |
9:125149686:C | P339R | missense_variant | 0.93 | 0 |
9:125149678:C | L342V | missense_variant | 0.93 | 0 |
9:125158261:A | T157I | missense_variant | 0.93 | 0 |
9:125158261:C | T157R | missense_variant | 0.93 | 0 |
9:125158261:T | T157K | missense_variant | 0.93 | 0 |
9:125158268:C | Q155E | missense_variant | 0.93 | 0 |
9:125158268:T | Q155K | missense_variant | 0.93 | 0 |
9:125149686:A | P339L | missense_variant | 0.93 | 0 |
9:125149705:T | P333T | missense_variant | 0.93 | 0 |
9:125149705:C | P333A | missense_variant | 0.93 | 0 |
9:125149705:A | P333S | missense_variant | 0.93 | 0 |
9:125149704:T | P333H | missense_variant | 0.93 | 0 |
9:125149704:C | P333R | missense_variant | 0.93 | 0 |
9:125149702:T | P334T | missense_variant | 0.93 | 0 |
9:125149702:C | P334A | missense_variant | 0.93 | 0 |
9:125149702:A | P334S | missense_variant | 0.93 | 0 |
9:125149701:T | P334H | missense_variant | 0.93 | 0 |
9:125149701:C | P334R | missense_variant | 0.93 | 0 |
9:125149701:A | P334L | missense_variant | 0.93 | 0 |
9:125149695:T | T336K | missense_variant | 0.93 | 0 |
9:125149695:C | T336R | missense_variant | 0.93 | 0 |
9:125149695:A | T336M | missense_variant | 0.93 | 0 |
9:125149692:T | T337K | missense_variant | 0.93 | 0 |
9:125149692:C | T337R | missense_variant | 0.93 | 0 |
9:125149692:A | T337I | missense_variant | 0.93 | 0 |
9:125149689:T | T338K | missense_variant | 0.93 | 0 |
9:125149678:A | L342F | missense_variant | 0.93 | 0 |
9:125149689:C | T338R | missense_variant | 0.93 | 0 |
9:125149678:T | L342I | missense_variant | 0.93 | 0 |
9:125149689:A | T338M | missense_variant | 0.93 | 0 |
9:125149687:T | P339T | missense_variant | 0.93 | 0 |
9:125158268:A | Q155* | stop_gained | 0.93 | 0 |
9:125171122:C | S82* | stop_gained | 0.86 | 0 |
9:125171087:A | Q94* | stop_gained | 0.86 | 0 |
9:125171122:T | S82* | stop_gained | 0.86 | 0 |
9:125171140:T | S76* | stop_gained | 0.86 | 0 |
9:125171132:A | Q79* | stop_gained | 0.86 | 0 |
9:125171140:C | S76* | stop_gained | 0.86 | 0 |
9:125171132:T | Q79K | missense_variant | 0.85 | 0 |
9:125171129:C | P80A | missense_variant | 0.85 | 0 |
9:125171129:T | P80T | missense_variant | 0.85 | 0 |
9:125171132:C | Q79E | missense_variant | 0.85 | 0 |
9:125171140:A | S76L | missense_variant | 0.85 | 0 |
9:125171128:A | P80L | missense_variant | 0.85 | 0 |
9:125171128:C | P80R | missense_variant | 0.85 | 0 |
9:125171128:T | P80Q | missense_variant | 0.85 | 0 |
9:125171129:A | P80S | missense_variant | 0.85 | 0 |
9:125171122:A | S82L | missense_variant | 0.85 | 0 |
9:125171119:T | T83K | missense_variant | 0.85 | 0 |
9:125171119:C | T83R | missense_variant | 0.85 | 0 |
9:125171119:A | T83I | missense_variant | 0.85 | 0 |
9:125171117:T | P84T | missense_variant | 0.85 | 0 |
9:125171117:C | P84A | missense_variant | 0.85 | 0 |
9:125171117:A | P84S | missense_variant | 0.85 | 0 |
9:125171116:T | P84Q | missense_variant | 0.85 | 0 |
9:125171087:C | Q94E | missense_variant | 0.85 | 0 |
9:125171116:C | P84R | missense_variant | 0.85 | 0 |
9:125171116:A | P84L | missense_variant | 0.85 | 0 |
9:125171110:T | T86K | missense_variant | 0.85 | 0 |
9:125171110:C | T86R | missense_variant | 0.85 | 0 |
9:125171110:A | T86I | missense_variant | 0.85 | 0 |
9:125171093:T | H92N | missense_variant | 0.85 | 0 |
9:125171093:C | H92D | missense_variant | 0.85 | 0 |
9:125171087:T | Q94K | missense_variant | 0.85 | 0 |
9:125160870:A | Q107* | stop_gained | 0.81 | 0 |
9:125160878:A | T104I | missense_variant | 0.79 | 0 |
9:125160878:C | T104S | missense_variant | 0.79 | 0 |
9:125160857:C | T111R | missense_variant | 0.79 | 0 |
9:125160864:C | P109A | missense_variant | 0.79 | 0 |
9:125160864:T | P109T | missense_variant | 0.79 | 0 |
9:125160857:A | T111I | missense_variant | 0.79 | 0 |
9:125160864:A | P109S | missense_variant | 0.79 | 0 |
9:125160878:T | T104N | missense_variant | 0.79 | 0 |
9:125160863:C | P109R | missense_variant | 0.79 | 0 |
9:125160870:C | Q107E | missense_variant | 0.79 | 0 |
9:125160870:T | Q107K | missense_variant | 0.79 | 0 |
9:125160863:A | P109L | missense_variant | 0.79 | 0 |
9:125160857:T | T111K | missense_variant | 0.79 | 0 |
9:125160863:T | P109H | missense_variant | 0.79 | 0 |
9:125149800:A | R301L | missense_variant | 0.73 | 0 |
9:125149800:G | R301P | missense_variant | 0.73 | 0 |
9:125149867:G | E279Q | missense_variant | 0.72 | 0 |
9:125149867:T | E279K | missense_variant | 0.72 | 0 |
9:125153914:A | V188L | missense_variant | 0.72 | 0 |
9:125149759:A | N315Y | missense_variant | 0.72 | 0 |
9:125149759:C | N315D | missense_variant | 0.72 | 0 |
9:125149759:G | N315H | missense_variant | 0.72 | 0 |
9:125153914:T | V188I | missense_variant | 0.72 | 0 |
9:125153914:G | V188L | missense_variant | 0.72 | 0 |
9:125158243:A | Y163F | missense_variant | 0.71 | 0 |
9:125158243:C | Y163C | missense_variant | 0.71 | 0 |
9:125158243:G | Y163S | missense_variant | 0.71 | 0 |
9:125149839:A | K288M | missense_variant | 0.71 | 0 |
9:125149899:C | K268R | missense_variant | 0.71 | 0 |
9:125149899:G | K268T | missense_variant | 0.71 | 0 |
9:125149756:G | T316P | missense_variant | 0.71 | 0 |
9:125158369:A | D121V | missense_variant | 0.71 | 0 |
9:125149839:C | K288R | missense_variant | 0.71 | 0 |
9:125149899:A | K268I | missense_variant | 0.71 | 0 |
9:125149839:G | K288T | missense_variant | 0.71 | 0 |
9:125149756:C | T316A | missense_variant | 0.71 | 0 |
9:125158369:C | D121G | missense_variant | 0.71 | 0 |
9:125158369:G | D121A | missense_variant | 0.71 | 0 |
9:125149756:A | T316S | missense_variant | 0.71 | 0 |
9:125153663:G | E217A | missense_variant | 0.66 | 0 |
9:125153663:C | E217G | missense_variant | 0.66 | 0 |
9:125153663:A | E217V | missense_variant | 0.66 | 0 |
9:125158340:C | T131A | missense_variant | 0.66 | 0 |
9:125158340:G | T131P | missense_variant | 0.66 | 0 |
9:125158298:C | T145A | missense_variant | 0.66 | 0 |
9:125158298:A | T145S | missense_variant | 0.66 | 0 |
9:125153938:G | T180P | missense_variant | 0.66 | 0 |
9:125153938:C | T180A | missense_variant | 0.66 | 0 |
9:125153938:A | T180S | missense_variant | 0.66 | 0 |
9:125153727:A | I196F | missense_variant | 0.66 | 0 |
9:125153727:C | I196V | missense_variant | 0.66 | 0 |
9:125153727:G | I196L | missense_variant | 0.66 | 0 |
9:125149758:A | N315I | missense_variant | 0.66 | 0 |
9:125149758:C | N315S | missense_variant | 0.66 | 0 |
9:125149758:G | N315T | missense_variant | 0.66 | 0 |
9:125158340:A | T131S | missense_variant | 0.66 | 0 |
9:125158298:G | T145P | missense_variant | 0.66 | 0 |
9:125158307:G | D142H | missense_variant | 0.66 | 0 |
9:125158354:G | S126T | missense_variant | 0.66 | 0 |
9:125158354:T | S126N | missense_variant | 0.66 | 0 |
9:125158364:A | G123C | missense_variant | 0.66 | 0 |
9:125158364:G | G123R | missense_variant | 0.66 | 0 |
9:125158364:T | G123S | missense_variant | 0.66 | 0 |
9:125158370:A | D121Y | missense_variant | 0.66 | 0 |
9:125158370:G | D121H | missense_variant | 0.66 | 0 |
9:125158307:A | D142Y | missense_variant | 0.66 | 0 |
9:125158307:T | D142N | missense_variant | 0.66 | 0 |
9:125158303:T | R143H | missense_variant | 0.66 | 0 |
9:125158303:G | R143P | missense_variant | 0.66 | 0 |
9:125158303:A | R143L | missense_variant | 0.66 | 0 |
9:125158354:A | S126I | missense_variant | 0.66 | 0 |
9:125158349:T | E128K | missense_variant | 0.66 | 0 |
9:125158349:G | E128Q | missense_variant | 0.66 | 0 |
9:125160888:C | L101V | missense_variant | 0.64 | 0 |
9:125160888:T | L101M | missense_variant | 0.64 | 0 |
9:125158250:A | G161* | stop_gained | 0.52 | 0 |
9:125158277:A | E152* | stop_gained | 0.52 | 0 |
9:125158286:G | G149R | missense_variant | 0.52 | 0 |
9:125158286:T | G149R | missense_variant | 0.52 | 0 |
9:125158241:T | D164N | missense_variant | 0.52 | 0 |
9:125158241:G | D164H | missense_variant | 0.52 | 0 |
9:125158241:A | D164Y | missense_variant | 0.52 | 0 |
9:125158288:A | R148L | missense_variant | 0.52 | 0 |
9:125158273:G | S153T | missense_variant | 0.52 | 0 |
9:125158273:T | S153N | missense_variant | 0.52 | 0 |
9:125158273:A | S153I | missense_variant | 0.52 | 0 |
9:125158288:G | R148P | missense_variant | 0.52 | 0 |
9:125158288:T | R148Q | missense_variant | 0.52 | 0 |
Cancer type | Selected cancer type | Mutational discovery Index | Feature Complexity |
---|---|---|---|
(CM) Cutaneous melanoma of the skin | SOLID | 0.72 | 0.12 |