Mutation | AA change | Consequence type | BoostDM score | IntOGen frequency |
---|---|---|---|---|
2:177234225:G | G31A | missense_variant | 1.00 | 3 |
2:177234082:G | E79Q | missense_variant | 1.00 | 2 |
2:177234216:G | R34P | missense_variant | 1.00 | 1 |
2:177234232:G | D29H | missense_variant | 1.00 | 1 |
2:177234076:T | G81S | missense_variant | 1.00 | 1 |
2:177234075:A | G81V | missense_variant | 1.00 | 1 |
2:177234076:G | G81R | missense_variant | 1.00 | 1 |
2:177234082:T | E79K | missense_variant | 1.00 | 1 |
2:177234240:C | Q26R | missense_variant | 1.00 | 1 |
2:177234072:C | E82G | missense_variant | 1.00 | 1 |
2:177234072:G | E82A | missense_variant | 1.00 | 1 |
2:177234081:C | E79G | missense_variant | 1.00 | 1 |
2:177234225:A | G31V | missense_variant | 1.00 | 1 |
2:177234225:T | G31E | missense_variant | 1.00 | 1 |
2:177234229:A | L30F | missense_variant | 1.00 | 1 |
2:177234241:T | Q26K | missense_variant | 1.00 | 1 |
2:177234245:T | W24* | stop_gained | 1.00 | 1 |
2:177234247:G | W24R | missense_variant | 1.00 | 1 |
2:177234247:T | W24R | missense_variant | 1.00 | 1 |
2:177234078:C | T80R | missense_variant | 1.00 | 1 |
2:177234217:C | R34G | missense_variant | 0.99 | 1 |
2:177234205:G | D38H | missense_variant | 0.60 | 1 |
2:177231474:T | E377K | missense_variant | 0.53 | 1 |
2:177234226:G | G31R | missense_variant | 1.00 | 0 |
2:177234238:T | D27N | missense_variant | 1.00 | 0 |
2:177234238:G | D27H | missense_variant | 1.00 | 0 |
2:177234238:A | D27Y | missense_variant | 1.00 | 0 |
2:177234219:G | S33T | missense_variant | 1.00 | 0 |
2:177234232:A | D29Y | missense_variant | 1.00 | 0 |
2:177234226:T | G31R | missense_variant | 1.00 | 0 |
2:177234216:T | R34Q | missense_variant | 1.00 | 0 |
2:177234232:T | D29N | missense_variant | 1.00 | 0 |
2:177234245:A | W24C | missense_variant | 1.00 | 0 |
2:177234219:T | S33N | missense_variant | 1.00 | 0 |
2:177234245:G | W24C | missense_variant | 1.00 | 0 |
2:177234223:T | V32I | missense_variant | 1.00 | 0 |
2:177234223:G | V32L | missense_variant | 1.00 | 0 |
2:177234219:A | S33I | missense_variant | 1.00 | 0 |
2:177234223:A | V32L | missense_variant | 1.00 | 0 |
2:177234216:A | R34L | missense_variant | 1.00 | 0 |
2:177234246:A | W24L | missense_variant | 1.00 | 0 |
2:177234246:G | W24S | missense_variant | 1.00 | 0 |
2:177234073:G | E82Q | missense_variant | 1.00 | 0 |
2:177234076:A | G81C | missense_variant | 1.00 | 0 |
2:177234075:T | G81D | missense_variant | 1.00 | 0 |
2:177234075:G | G81A | missense_variant | 1.00 | 0 |
2:177234073:T | E82K | missense_variant | 1.00 | 0 |
2:177234237:G | D27A | missense_variant | 1.00 | 0 |
2:177234240:A | Q26L | missense_variant | 1.00 | 0 |
2:177234240:G | Q26P | missense_variant | 1.00 | 0 |
2:177234237:A | D27V | missense_variant | 1.00 | 0 |
2:177234237:C | D27G | missense_variant | 1.00 | 0 |
2:177234231:G | D29A | missense_variant | 1.00 | 0 |
2:177234231:C | D29G | missense_variant | 1.00 | 0 |
2:177234231:A | D29V | missense_variant | 1.00 | 0 |
2:177234079:A | T80S | missense_variant | 1.00 | 0 |
2:177234079:C | T80A | missense_variant | 1.00 | 0 |
2:177234079:G | T80P | missense_variant | 1.00 | 0 |
2:177234081:A | E79V | missense_variant | 1.00 | 0 |
2:177234072:A | E82V | missense_variant | 1.00 | 0 |
2:177234081:G | E79A | missense_variant | 1.00 | 0 |
2:177234228:T | L30H | missense_variant | 1.00 | 0 |
2:177234234:C | I28R | missense_variant | 1.00 | 0 |
2:177234234:G | I28T | missense_variant | 1.00 | 0 |
2:177234234:T | I28K | missense_variant | 1.00 | 0 |
2:177234228:C | L30R | missense_variant | 1.00 | 0 |
2:177234228:G | L30P | missense_variant | 1.00 | 0 |
2:177234241:C | Q26E | missense_variant | 1.00 | 0 |
2:177234229:C | L30V | missense_variant | 1.00 | 0 |
2:177234229:T | L30I | missense_variant | 1.00 | 0 |
2:177234226:A | G31* | stop_gained | 1.00 | 0 |
2:177234247:C | W24G | missense_variant | 1.00 | 0 |
2:177234246:T | W24* | stop_gained | 1.00 | 0 |
2:177234078:A | T80I | missense_variant | 1.00 | 0 |
2:177234078:T | T80K | missense_variant | 1.00 | 0 |
2:177234244:C | R25G | missense_variant | 1.00 | 0 |
2:177234244:A | R25W | missense_variant | 1.00 | 0 |
2:177234073:A | E82* | stop_gained | 1.00 | 0 |
2:177234082:A | E79* | stop_gained | 1.00 | 0 |
2:177234241:A | Q26* | stop_gained | 0.99 | 0 |
2:177234217:A | R34* | stop_gained | 0.98 | 0 |
2:177234222:T | V32E | missense_variant | 0.97 | 0 |
2:177234222:C | V32G | missense_variant | 0.97 | 0 |
2:177234222:G | V32A | missense_variant | 0.97 | 0 |
2:177234235:G | I28L | missense_variant | 0.92 | 0 |
2:177234235:C | I28V | missense_variant | 0.92 | 0 |
2:177234235:A | I28L | missense_variant | 0.92 | 0 |
2:177234243:A | R25M | missense_variant | 0.92 | 0 |
2:177234243:T | R25K | missense_variant | 0.92 | 0 |
2:177234243:G | R25T | missense_variant | 0.92 | 0 |
2:177234239:A | Q26H | missense_variant | 0.91 | 0 |
2:177234239:G | Q26H | missense_variant | 0.91 | 0 |
2:177234236:C | D27E | missense_variant | 0.85 | 0 |
2:177234236:T | D27E | missense_variant | 0.85 | 0 |
2:177234242:G | R25S | missense_variant | 0.83 | 0 |
2:177234242:A | R25S | missense_variant | 0.83 | 0 |
2:177234220:A | S33C | missense_variant | 0.83 | 0 |
2:177234230:C | D29E | missense_variant | 0.83 | 0 |
2:177234220:C | S33G | missense_variant | 0.83 | 0 |
2:177234230:T | D29E | missense_variant | 0.83 | 0 |
2:177234220:G | S33R | missense_variant | 0.83 | 0 |
2:177234233:C | I28M | missense_variant | 0.83 | 0 |
2:177234218:C | S33R | missense_variant | 0.83 | 0 |
2:177234218:T | S33R | missense_variant | 0.83 | 0 |
2:177234080:A | E79D | missense_variant | 0.82 | 0 |
2:177234080:G | E79D | missense_variant | 0.82 | 0 |
2:177234211:A | V36L | missense_variant | 0.60 | 0 |
2:177234205:A | D38Y | missense_variant | 0.60 | 0 |
2:177234271:T | D16N | missense_variant | 0.60 | 0 |
2:177234271:G | D16H | missense_variant | 0.60 | 0 |
2:177234192:T | R42Q | missense_variant | 0.60 | 0 |
2:177234192:G | R42P | missense_variant | 0.60 | 0 |
2:177234192:A | R42L | missense_variant | 0.60 | 0 |
2:177234124:T | E65K | missense_variant | 0.60 | 0 |
2:177234124:G | E65Q | missense_variant | 0.60 | 0 |
2:177234088:T | D77N | missense_variant | 0.60 | 0 |
2:177234088:G | D77H | missense_variant | 0.60 | 0 |
2:177234211:T | V36I | missense_variant | 0.60 | 0 |
2:177234211:G | V36L | missense_variant | 0.60 | 0 |
2:177234205:T | D38N | missense_variant | 0.60 | 0 |
2:177234088:A | D77Y | missense_variant | 0.60 | 0 |
2:177234085:T | E78K | missense_variant | 0.60 | 0 |
2:177234085:G | E78Q | missense_variant | 0.60 | 0 |
2:177234214:T | E35K | missense_variant | 0.60 | 0 |
2:177230922:C | Y561D | missense_variant | 0.60 | 0 |
2:177233296:T | C119Y | missense_variant | 0.60 | 0 |
2:177233296:G | C119S | missense_variant | 0.60 | 0 |
2:177233296:A | C119F | missense_variant | 0.60 | 0 |
2:177231273:T | D444N | missense_variant | 0.60 | 0 |
2:177233292:T | M120I | missense_variant | 0.60 | 0 |
2:177233292:G | M120I | missense_variant | 0.60 | 0 |
2:177233292:A | M120I | missense_variant | 0.60 | 0 |
2:177234271:A | D16Y | missense_variant | 0.60 | 0 |
2:177234256:T | D21N | missense_variant | 0.60 | 0 |
2:177234256:G | D21H | missense_variant | 0.60 | 0 |
2:177234256:A | D21Y | missense_variant | 0.60 | 0 |
2:177230922:G | Y561H | missense_variant | 0.60 | 0 |
2:177230922:T | Y561N | missense_variant | 0.60 | 0 |
2:177231273:A | D444Y | missense_variant | 0.60 | 0 |
2:177231273:G | D444H | missense_variant | 0.60 | 0 |
2:177234214:G | E35Q | missense_variant | 0.60 | 0 |
2:177231476:T | S376Y | missense_variant | 0.58 | 0 |
2:177231476:C | S376C | missense_variant | 0.58 | 0 |
2:177231476:A | S376F | missense_variant | 0.58 | 0 |
2:177231465:T | E380K | missense_variant | 0.53 | 0 |
2:177231582:T | D341N | missense_variant | 0.53 | 0 |
2:177231582:G | D341H | missense_variant | 0.53 | 0 |
2:177231582:A | D341Y | missense_variant | 0.53 | 0 |
2:177231576:T | D343N | missense_variant | 0.53 | 0 |
2:177231576:G | D343H | missense_variant | 0.53 | 0 |
2:177231576:A | D343Y | missense_variant | 0.53 | 0 |
2:177231570:T | G345S | missense_variant | 0.53 | 0 |
2:177231570:G | G345R | missense_variant | 0.53 | 0 |
2:177231570:A | G345C | missense_variant | 0.53 | 0 |
2:177231482:T | S374N | missense_variant | 0.53 | 0 |
2:177231482:G | S374T | missense_variant | 0.53 | 0 |
2:177231482:A | S374I | missense_variant | 0.53 | 0 |
2:177231480:T | D375N | missense_variant | 0.53 | 0 |
2:177231480:G | D375H | missense_variant | 0.53 | 0 |
2:177231480:A | D375Y | missense_variant | 0.53 | 0 |
2:177231474:G | E377Q | missense_variant | 0.53 | 0 |
2:177231468:T | E379K | missense_variant | 0.53 | 0 |
2:177231468:G | E379Q | missense_variant | 0.53 | 0 |
2:177231465:G | E380Q | missense_variant | 0.53 | 0 |
2:177231459:T | D382N | missense_variant | 0.53 | 0 |
2:177231459:G | D382H | missense_variant | 0.53 | 0 |
2:177231459:A | D382Y | missense_variant | 0.53 | 0 |
2:177232519:C | F156C | missense_variant | 0.52 | 0 |
2:177232519:G | F156S | missense_variant | 0.52 | 0 |
2:177232519:T | F156Y | missense_variant | 0.52 | 0 |
2:177231591:T | E338K | missense_variant | 0.52 | 0 |
2:177231591:G | E338Q | missense_variant | 0.52 | 0 |
2:177231746:C | Y286C | missense_variant | 0.52 | 0 |
2:177231746:G | Y286S | missense_variant | 0.52 | 0 |
2:177234196:C | Q41E | missense_variant | 0.52 | 0 |
2:177234196:T | Q41K | missense_variant | 0.52 | 0 |
2:177231182:T | I474N | missense_variant | 0.52 | 0 |
2:177231182:G | I474T | missense_variant | 0.52 | 0 |
2:177231182:C | I474S | missense_variant | 0.52 | 0 |
2:177231746:A | Y286F | missense_variant | 0.52 | 0 |
Cancer type | Selected cancer type | Mutational discovery Index | Feature Complexity |
---|---|---|---|
(ESCA) Esophageal cancer | ESCA | 0.20 | 0.10 |