Mutation | AA change | Consequence type | BoostDM score | IntOGen frequency |
---|---|---|---|---|
7:140753336:T | V600E | missense_variant | 1.00 | 376 |
7:140753337:T | V600M | missense_variant | 1.00 | 35 |
7:140753334:C | K601E | missense_variant | 1.00 | 9 |
7:140781611:T | G466E | missense_variant | 0.99 | 5 |
7:140753336:C | V600G | missense_variant | 1.00 | 3 |
7:140781603:T | G469R | missense_variant | 0.99 | 3 |
7:140753345:T | L597Q | missense_variant | 1.00 | 2 |
7:140753355:T | D594N | missense_variant | 1.00 | 2 |
7:140781602:T | G469E | missense_variant | 0.99 | 2 |
7:140781612:T | G466R | missense_variant | 0.99 | 1 |
7:140781611:G | G466A | missense_variant | 0.99 | 1 |
7:140781602:G | G469A | missense_variant | 0.99 | 1 |
7:140781608:A | S467L | missense_variant | 0.99 | 1 |
7:140754204:T | R575K | missense_variant | 0.97 | 1 |
7:140778061:C | K483E | missense_variant | 0.95 | 1 |
7:140754187:G | N581H | missense_variant | 0.94 | 1 |
7:140754208:A | H574Y | missense_variant | 0.94 | 1 |
7:140753288:A | S616F | missense_variant | 0.93 | 1 |
7:140753345:C | L597R | missense_variant | 1.00 | 0 |
7:140753336:G | V600A | missense_variant | 1.00 | 0 |
7:140753345:G | L597P | missense_variant | 1.00 | 0 |
7:140753337:G | V600L | missense_variant | 1.00 | 0 |
7:140753355:G | D594H | missense_variant | 1.00 | 0 |
7:140753337:A | V600L | missense_variant | 1.00 | 0 |
7:140753355:A | D594Y | missense_variant | 1.00 | 0 |
7:140753354:G | D594A | missense_variant | 1.00 | 0 |
7:140753354:A | D594V | missense_variant | 1.00 | 0 |
7:140753354:C | D594G | missense_variant | 1.00 | 0 |
7:140753334:G | K601Q | missense_variant | 1.00 | 0 |
7:140753334:A | K601* | stop_gained | 0.99 | 0 |
7:140781602:A | G469V | missense_variant | 0.99 | 0 |
7:140781612:G | G466R | missense_variant | 0.99 | 0 |
7:140781603:G | G469R | missense_variant | 0.99 | 0 |
7:140781611:A | G466V | missense_variant | 0.99 | 0 |
7:140753346:T | L597I | missense_variant | 0.99 | 0 |
7:140753346:C | L597V | missense_variant | 0.99 | 0 |
7:140753353:C | D594E | missense_variant | 0.99 | 0 |
7:140753353:T | D594E | missense_variant | 0.99 | 0 |
7:140781609:G | S467P | missense_variant | 0.99 | 0 |
7:140781609:C | S467A | missense_variant | 0.99 | 0 |
7:140781609:T | S467T | missense_variant | 0.99 | 0 |
7:140753333:A | K601I | missense_variant | 0.99 | 0 |
7:140753333:C | K601R | missense_variant | 0.99 | 0 |
7:140753333:G | K601T | missense_variant | 0.99 | 0 |
7:140781603:A | G469* | stop_gained | 0.98 | 0 |
7:140781612:A | G466* | stop_gained | 0.98 | 0 |
7:140781608:C | S467* | stop_gained | 0.98 | 0 |
7:140781608:T | S467* | stop_gained | 0.98 | 0 |
7:140754204:A | R575I | missense_variant | 0.97 | 0 |
7:140754204:G | R575T | missense_variant | 0.97 | 0 |
7:140754206:T | H574Q | missense_variant | 0.97 | 0 |
7:140754206:C | H574Q | missense_variant | 0.97 | 0 |
7:140753332:G | K601N | missense_variant | 0.96 | 0 |
7:140753332:A | K601N | missense_variant | 0.96 | 0 |
7:140778061:G | K483Q | missense_variant | 0.95 | 0 |
7:140778060:A | K483I | missense_variant | 0.95 | 0 |
7:140778060:C | K483R | missense_variant | 0.95 | 0 |
7:140778060:G | K483T | missense_variant | 0.95 | 0 |
7:140754187:A | N581Y | missense_variant | 0.94 | 0 |
7:140754187:C | N581D | missense_variant | 0.94 | 0 |
7:140754207:C | H574R | missense_variant | 0.94 | 0 |
7:140754207:A | H574L | missense_variant | 0.94 | 0 |
7:140754207:G | H574P | missense_variant | 0.94 | 0 |
7:140754208:T | H574N | missense_variant | 0.94 | 0 |
7:140754208:C | H574D | missense_variant | 0.94 | 0 |
7:140753289:T | S616T | missense_variant | 0.93 | 0 |
7:140753289:C | S616A | missense_variant | 0.93 | 0 |
7:140753289:G | S616P | missense_variant | 0.93 | 0 |
7:140753288:C | S616C | missense_variant | 0.93 | 0 |
7:140753288:T | S616Y | missense_variant | 0.93 | 0 |
7:140778059:A | K483N | missense_variant | 0.89 | 0 |
7:140778059:G | K483N | missense_variant | 0.89 | 0 |
7:140753392:C | N581K | missense_variant | 0.88 | 0 |
7:140753392:T | N581K | missense_variant | 0.88 | 0 |
7:140754205:C | R575G | missense_variant | 0.88 | 0 |
7:140754203:G | R575S | missense_variant | 0.87 | 0 |
7:140754203:A | R575S | missense_variant | 0.87 | 0 |
7:140778061:A | K483* | stop_gained | 0.85 | 0 |
7:140754205:A | R575* | stop_gained | 0.67 | 0 |
7:140753351:C | F595C | missense_variant | 0.57 | 0 |
7:140753351:T | F595Y | missense_variant | 0.57 | 0 |
7:140753351:G | F595S | missense_variant | 0.57 | 0 |
7:140753352:C | F595V | missense_variant | 0.57 | 0 |
7:140753352:G | F595L | missense_variant | 0.57 | 0 |
7:140753352:T | F595I | missense_variant | 0.57 | 0 |
7:140753348:G | G596A | missense_variant | 0.56 | 0 |
7:140753349:T | G596S | missense_variant | 0.56 | 0 |
7:140753348:A | G596V | missense_variant | 0.56 | 0 |
7:140753348:T | G596D | missense_variant | 0.56 | 0 |
7:140753349:A | G596C | missense_variant | 0.56 | 0 |
7:140753349:G | G596R | missense_variant | 0.56 | 0 |
7:140753340:A | T599S | missense_variant | 0.52 | 0 |
7:140753340:G | T599P | missense_variant | 0.52 | 0 |
7:140753340:C | T599A | missense_variant | 0.52 | 0 |
7:140753343:G | A598P | missense_variant | 0.50 | 0 |
7:140753343:T | A598T | missense_variant | 0.50 | 0 |
7:140753343:A | A598S | missense_variant | 0.50 | 0 |
Cancer type | Selected cancer type | Mutational discovery Index | Feature Complexity |
---|---|---|---|
(CM) Cutaneous melanoma of the skin | CM | 0.72 | 0.24 |