Mutation | AA change | Consequence type | BoostDM score | IntOGen frequency |
---|---|---|---|---|
17:7675088:T | R175H | missense_variant | 1.00 | 30 |
17:7673802:T | R273H | missense_variant | 1.00 | 20 |
17:7673776:A | R282W | missense_variant | 1.00 | 19 |
17:7674220:T | R248Q | missense_variant | 1.00 | 17 |
17:7673803:A | R273C | missense_variant | 1.00 | 14 |
17:7674221:A | R248W | missense_variant | 1.00 | 14 |
17:7674894:A | R213* | stop_gained | 1.00 | 13 |
17:7670685:A | R342* | stop_gained | 1.00 | 13 |
17:7674230:T | G245S | missense_variant | 1.00 | 12 |
17:7674945:A | R196* | stop_gained | 0.98 | 10 |
17:7674872:C | Y220C | missense_variant | 1.00 | 8 |
17:7673704:A | R306* | stop_gained | 1.00 | 7 |
17:7673740:A | E294* | stop_gained | 1.00 | 7 |
17:7673806:T | V272M | missense_variant | 1.00 | 5 |
17:7675124:C | Y163C | missense_variant | 1.00 | 5 |
17:7675076:C | H179R | missense_variant | 1.00 | 4 |
17:7674890:C | H214R | missense_variant | 1.00 | 4 |
17:7675077:A | H179Y | missense_variant | 1.00 | 4 |
17:7673579:A | Q317* | stop_gained | 1.00 | 4 |
17:7674954:A | H193Y | missense_variant | 1.00 | 4 |
17:7670700:A | R337C | missense_variant | 0.84 | 4 |
17:7673806:A | V272L | missense_variant | 1.00 | 3 |
17:7673823:T | G266E | missense_variant | 1.00 | 3 |
17:7673823:A | G266V | missense_variant | 1.00 | 3 |
17:7674220:A | R248L | missense_variant | 1.00 | 3 |
17:7674229:T | G245D | missense_variant | 1.00 | 3 |
17:7674250:T | C238Y | missense_variant | 1.00 | 3 |
17:7674885:T | V216M | missense_variant | 1.00 | 3 |
17:7674888:C | S215G | missense_variant | 1.00 | 3 |
17:7674241:A | S241F | missense_variant | 1.00 | 3 |
17:7673788:A | P278S | missense_variant | 1.00 | 3 |
17:7675235:C | Y126C | missense_variant | 1.00 | 3 |
17:7675178:T | L145Q | missense_variant | 1.00 | 3 |
17:7674950:C | L194R | missense_variant | 1.00 | 3 |
17:7675232:A | S127F | missense_variant | 1.00 | 3 |
17:7675143:A | V157F | missense_variant | 1.00 | 3 |
17:7674957:A | Q192* | stop_gained | 0.95 | 3 |
17:7673796:A | C275F | missense_variant | 1.00 | 2 |
17:7673824:T | G266R | missense_variant | 1.00 | 2 |
17:7675095:G | V173L | missense_variant | 1.00 | 2 |
17:7675085:A | C176F | missense_variant | 1.00 | 2 |
17:7673776:C | R282G | missense_variant | 1.00 | 2 |
17:7674230:A | G245C | missense_variant | 1.00 | 2 |
17:7674238:G | C242S | missense_variant | 1.00 | 2 |
17:7673777:T | D281E | missense_variant | 1.00 | 2 |
17:7675131:T | A161T | missense_variant | 1.00 | 2 |
17:7674248:C | N239D | missense_variant | 1.00 | 2 |
17:7674252:T | M237I | missense_variant | 1.00 | 2 |
17:7674187:A | D259V | missense_variant | 1.00 | 2 |
17:7674227:C | M246V | missense_variant | 1.00 | 2 |
17:7675136:A | A159V | missense_variant | 1.00 | 2 |
17:7674917:C | Y205C | missense_variant | 1.00 | 2 |
17:7673787:C | P278R | missense_variant | 1.00 | 2 |
17:7674953:A | H193L | missense_variant | 1.00 | 2 |
17:7674256:C | Y236C | missense_variant | 1.00 | 2 |
17:7674214:A | P250L | missense_variant | 1.00 | 2 |
17:7675214:C | M133R | missense_variant | 1.00 | 2 |
17:7675178:G | L145P | missense_variant | 1.00 | 2 |
17:7675157:A | P152L | missense_variant | 1.00 | 2 |
17:7675127:T | I162N | missense_variant | 1.00 | 2 |
17:7674944:G | R196P | missense_variant | 1.00 | 2 |
17:7674947:G | I195T | missense_variant | 1.00 | 2 |
17:7674202:C | I254S | missense_variant | 1.00 | 2 |
17:7675190:T | C141Y | missense_variant | 1.00 | 2 |
17:7675217:C | K132R | missense_variant | 0.99 | 2 |
17:7674942:T | V197M | missense_variant | 0.99 | 2 |
17:7674191:A | E258* | stop_gained | 0.98 | 2 |
17:7675115:T | S166* | stop_gained | 0.98 | 2 |
17:7676059:A | Q104* | stop_gained | 0.98 | 2 |
17:7675216:A | K132N | missense_variant | 0.97 | 2 |
17:7676211:T | W53* | stop_gained | 0.97 | 2 |
17:7674216:G | R249S | missense_variant | 0.96 | 2 |
17:7675175:T | W146* | stop_gained | 0.95 | 2 |
17:7674893:A | R213L | missense_variant | 0.95 | 2 |
17:7670673:A | E346* | stop_gained | 0.93 | 2 |
17:7673796:T | C275Y | missense_variant | 1.00 | 1 |
17:7673779:T | D281N | missense_variant | 1.00 | 1 |
17:7673779:G | D281H | missense_variant | 1.00 | 1 |
17:7675076:A | H179L | missense_variant | 1.00 | 1 |
17:7675095:T | V173M | missense_variant | 1.00 | 1 |
17:7675085:T | C176Y | missense_variant | 1.00 | 1 |
17:7673803:C | R273G | missense_variant | 1.00 | 1 |
17:7673811:G | F270S | missense_variant | 1.00 | 1 |
17:7674229:A | G245V | missense_variant | 1.00 | 1 |
17:7674230:G | G245R | missense_variant | 1.00 | 1 |
17:7674238:A | C242F | missense_variant | 1.00 | 1 |
17:7674229:G | G245A | missense_variant | 1.00 | 1 |
17:7673767:T | E285K | missense_variant | 1.00 | 1 |
17:7674217:A | R249M | missense_variant | 1.00 | 1 |
17:7675109:C | H168R | missense_variant | 1.00 | 1 |
17:7675089:C | R175G | missense_variant | 1.00 | 1 |
17:7674885:A | V216L | missense_variant | 1.00 | 1 |
17:7673772:G | R283P | missense_variant | 1.00 | 1 |
17:7675098:A | V172F | missense_variant | 1.00 | 1 |
17:7674887:T | S215N | missense_variant | 1.00 | 1 |
17:7673782:C | R280G | missense_variant | 1.00 | 1 |
17:7675151:A | G154V | missense_variant | 1.00 | 1 |
17:7673817:A | N268I | missense_variant | 1.00 | 1 |
17:7675092:A | R174W | missense_variant | 1.00 | 1 |
17:7675161:C | P151A | missense_variant | 1.00 | 1 |
17:7675161:A | P151S | missense_variant | 1.00 | 1 |
17:7675161:T | P151T | missense_variant | 1.00 | 1 |
17:7675070:T | R181H | missense_variant | 1.00 | 1 |
17:7674917:G | Y205S | missense_variant | 1.00 | 1 |
17:7674917:A | Y205F | missense_variant | 1.00 | 1 |
17:7675160:T | P151H | missense_variant | 1.00 | 1 |
17:7675160:C | P151R | missense_variant | 1.00 | 1 |
17:7674241:T | S241Y | missense_variant | 1.00 | 1 |
17:7674918:G | Y205H | missense_variant | 1.00 | 1 |
17:7674873:T | Y220N | missense_variant | 1.00 | 1 |
17:7674873:C | Y220D | missense_variant | 1.00 | 1 |
17:7675086:T | C176S | missense_variant | 1.00 | 1 |
17:7675086:C | C176G | missense_variant | 1.00 | 1 |
17:7675236:C | Y126D | missense_variant | 1.00 | 1 |
17:7675236:T | Y126N | missense_variant | 1.00 | 1 |
17:7673799:G | V274A | missense_variant | 1.00 | 1 |
17:7673797:C | C275G | missense_variant | 1.00 | 1 |
17:7674212:G | I251L | missense_variant | 1.00 | 1 |
17:7673787:T | P278H | missense_variant | 1.00 | 1 |
17:7673787:A | P278L | missense_variant | 1.00 | 1 |
17:7675235:G | Y126S | missense_variant | 1.00 | 1 |
17:7674953:G | H193P | missense_variant | 1.00 | 1 |
17:7674948:A | I195F | missense_variant | 1.00 | 1 |
17:7674188:A | D259Y | missense_variant | 1.00 | 1 |
17:7674881:C | V217G | missense_variant | 1.00 | 1 |
17:7674239:C | C242G | missense_variant | 1.00 | 1 |
17:7674226:C | M246R | missense_variant | 1.00 | 1 |
17:7673547:C | Y327* | stop_gained | 1.00 | 1 |
17:7673547:T | Y327* | stop_gained | 1.00 | 1 |
17:7674262:C | Y234C | missense_variant | 1.00 | 1 |
17:7675212:G | F134L | missense_variant | 1.00 | 1 |
17:7675130:T | A161D | missense_variant | 1.00 | 1 |
17:7674257:T | Y236N | missense_variant | 1.00 | 1 |
17:7676097:T | W91* | stop_gained | 1.00 | 1 |
17:7674251:G | C238R | missense_variant | 1.00 | 1 |
17:7674950:T | L194H | missense_variant | 1.00 | 1 |
17:7675084:C | C176W | missense_variant | 1.00 | 1 |
17:7675232:T | S127Y | missense_variant | 1.00 | 1 |
17:7674962:A | P190L | missense_variant | 1.00 | 1 |
17:7674199:G | I255T | missense_variant | 1.00 | 1 |
17:7674193:G | L257P | missense_variant | 1.00 | 1 |
17:7675220:A | N131I | missense_variant | 1.00 | 1 |
17:7675064:C | S183* | stop_gained | 1.00 | 1 |
17:7675997:T | C124* | stop_gained | 1.00 | 1 |
17:7675224:A | L130F | missense_variant | 1.00 | 1 |
17:7675208:T | C135Y | missense_variant | 0.99 | 1 |
17:7673805:C | V272G | missense_variant | 0.99 | 1 |
17:7673805:G | V272A | missense_variant | 0.99 | 1 |
17:7675217:G | K132T | missense_variant | 0.99 | 1 |
17:7675218:G | K132Q | missense_variant | 0.99 | 1 |
17:7673537:A | Q331* | stop_gained | 0.99 | 1 |
17:7675119:A | Q165* | stop_gained | 0.98 | 1 |
17:7675211:C | F134C | missense_variant | 0.98 | 1 |
17:7675113:A | Q167* | stop_gained | 0.98 | 1 |
17:7674237:T | C242* | stop_gained | 0.98 | 1 |
17:7675189:C | C141W | missense_variant | 0.98 | 1 |
17:7673800:A | V274F | missense_variant | 0.97 | 1 |
17:7673764:A | E286* | stop_gained | 0.97 | 1 |
17:7676210:T | W53* | stop_gained | 0.97 | 1 |
17:7676257:A | Q38* | stop_gained | 0.96 | 1 |
17:7674216:A | R249S | missense_variant | 0.96 | 1 |
17:7673728:A | E298* | stop_gained | 0.96 | 1 |
17:7676215:A | Q52* | stop_gained | 0.96 | 1 |
17:7673824:A | G266* | stop_gained | 0.96 | 1 |
17:7676167:A | E68* | stop_gained | 0.96 | 1 |
17:7675075:C | H179Q | missense_variant | 0.95 | 1 |
17:7674261:C | Y234* | stop_gained | 0.93 | 1 |
17:7674255:T | Y236* | stop_gained | 0.93 | 1 |
17:7675207:C | C135W | missense_variant | 0.93 | 1 |
17:7674936:A | G199* | stop_gained | 0.91 | 1 |
17:7675207:T | C135* | stop_gained | 0.90 | 1 |
17:7673573:A | K319* | stop_gained | 0.85 | 1 |
17:7675206:A | Q136* | stop_gained | 0.84 | 1 |
17:7674955:A | Q192H | missense_variant | 0.81 | 1 |
17:7676051:C | S106R | missense_variant | 0.69 | 1 |
17:7673835:A | G262V | missense_variant | 0.55 | 1 |
17:7676040:A | R110L | missense_variant | 0.54 | 1 |
17:7676040:G | R110P | missense_variant | 0.54 | 1 |
17:7674899:A | T211I | missense_variant | 0.52 | 1 |
17:7673806:G | V272L | missense_variant | 1.00 | 0 |
17:7675088:A | R175L | missense_variant | 1.00 | 0 |
17:7675088:G | R175P | missense_variant | 1.00 | 0 |
17:7673802:G | R273P | missense_variant | 1.00 | 0 |
17:7673779:A | D281Y | missense_variant | 1.00 | 0 |
17:7673781:A | R280I | missense_variant | 1.00 | 0 |
17:7673781:G | R280T | missense_variant | 1.00 | 0 |
17:7673781:T | R280K | missense_variant | 1.00 | 0 |
17:7673796:G | C275S | missense_variant | 1.00 | 0 |
17:7673824:G | G266R | missense_variant | 1.00 | 0 |
17:7673823:G | G266A | missense_variant | 1.00 | 0 |
17:7673802:A | R273L | missense_variant | 1.00 | 0 |
17:7675095:A | V173L | missense_variant | 1.00 | 0 |
17:7675076:G | H179P | missense_variant | 1.00 | 0 |
17:7675085:G | C176S | missense_variant | 1.00 | 0 |
17:7673803:T | R273S | missense_variant | 1.00 | 0 |
17:7674220:G | R248P | missense_variant | 1.00 | 0 |
17:7673811:C | F270C | missense_variant | 1.00 | 0 |
17:7673811:T | F270Y | missense_variant | 1.00 | 0 |
17:7674225:G | M246I | missense_variant | 1.00 | 0 |
17:7674225:A | M246I | missense_variant | 1.00 | 0 |
17:7674225:T | M246I | missense_variant | 1.00 | 0 |
17:7674238:T | C242Y | missense_variant | 1.00 | 0 |
17:7673775:G | R282P | missense_variant | 1.00 | 0 |
17:7673775:A | R282L | missense_variant | 1.00 | 0 |
17:7673775:T | R282Q | missense_variant | 1.00 | 0 |
17:7674250:A | C238F | missense_variant | 1.00 | 0 |
17:7674250:G | C238S | missense_variant | 1.00 | 0 |
17:7675071:T | R181S | missense_variant | 1.00 | 0 |
17:7675071:C | R181G | missense_variant | 1.00 | 0 |
17:7675071:A | R181C | missense_variant | 1.00 | 0 |
17:7673767:G | E285Q | missense_variant | 1.00 | 0 |
17:7674217:T | R249K | missense_variant | 1.00 | 0 |
17:7674217:G | R249T | missense_variant | 1.00 | 0 |
17:7675109:A | H168L | missense_variant | 1.00 | 0 |
17:7675109:G | H168P | missense_variant | 1.00 | 0 |
17:7675124:G | Y163S | missense_variant | 1.00 | 0 |
17:7675124:A | Y163F | missense_variant | 1.00 | 0 |
17:7675089:T | R175S | missense_variant | 1.00 | 0 |
17:7675089:A | R175C | missense_variant | 1.00 | 0 |
17:7674885:G | V216L | missense_variant | 1.00 | 0 |
17:7673772:A | R283L | missense_variant | 1.00 | 0 |
17:7673772:T | R283H | missense_variant | 1.00 | 0 |
17:7674872:A | Y220F | missense_variant | 1.00 | 0 |
17:7674872:G | Y220S | missense_variant | 1.00 | 0 |
17:7673777:C | D281E | missense_variant | 1.00 | 0 |
17:7675098:G | V172L | missense_variant | 1.00 | 0 |
17:7675098:T | V172I | missense_variant | 1.00 | 0 |
17:7675131:A | A161S | missense_variant | 1.00 | 0 |
17:7675131:G | A161P | missense_variant | 1.00 | 0 |
17:7674221:C | R248G | missense_variant | 1.00 | 0 |
17:7674887:G | S215T | missense_variant | 1.00 | 0 |
17:7674888:A | S215C | missense_variant | 1.00 | 0 |
17:7674888:G | S215R | missense_variant | 1.00 | 0 |
17:7674887:A | S215I | missense_variant | 1.00 | 0 |
17:7674247:C | N239S | missense_variant | 1.00 | 0 |
17:7674247:A | N239I | missense_variant | 1.00 | 0 |
17:7674247:G | N239T | missense_variant | 1.00 | 0 |
17:7674248:A | N239Y | missense_variant | 1.00 | 0 |
17:7674248:G | N239H | missense_variant | 1.00 | 0 |
17:7674246:T | N239K | missense_variant | 1.00 | 0 |
17:7674246:C | N239K | missense_variant | 1.00 | 0 |
17:7673795:C | C275W | missense_variant | 1.00 | 0 |
17:7673773:T | R283S | missense_variant | 1.00 | 0 |
17:7673773:C | R283G | missense_variant | 1.00 | 0 |
17:7673773:A | R283C | missense_variant | 1.00 | 0 |
17:7675151:G | G154A | missense_variant | 1.00 | 0 |
17:7675151:T | G154D | missense_variant | 1.00 | 0 |
17:7675152:A | G154C | missense_variant | 1.00 | 0 |
17:7675152:T | G154S | missense_variant | 1.00 | 0 |
17:7675152:G | G154R | missense_variant | 1.00 | 0 |
17:7673817:C | N268S | missense_variant | 1.00 | 0 |
17:7673817:G | N268T | missense_variant | 1.00 | 0 |
17:7674252:G | M237I | missense_variant | 1.00 | 0 |
17:7674252:A | M237I | missense_variant | 1.00 | 0 |
17:7673778:C | D281G | missense_variant | 1.00 | 0 |
17:7673778:G | D281A | missense_variant | 1.00 | 0 |
17:7673778:A | D281V | missense_variant | 1.00 | 0 |
17:7674237:C | C242W | missense_variant | 1.00 | 0 |
17:7675126:C | I162M | missense_variant | 1.00 | 0 |
17:7675137:G | A159P | missense_variant | 1.00 | 0 |
17:7675137:T | A159T | missense_variant | 1.00 | 0 |
17:7675137:A | A159S | missense_variant | 1.00 | 0 |
17:7675092:C | R174G | missense_variant | 1.00 | 0 |
17:7675110:T | H168N | missense_variant | 1.00 | 0 |
17:7675110:C | H168D | missense_variant | 1.00 | 0 |
17:7675110:A | H168Y | missense_variant | 1.00 | 0 |
17:7675070:G | R181P | missense_variant | 1.00 | 0 |
17:7675070:A | R181L | missense_variant | 1.00 | 0 |
17:7674187:G | D259A | missense_variant | 1.00 | 0 |
17:7674187:C | D259G | missense_variant | 1.00 | 0 |
17:7674227:A | M246L | missense_variant | 1.00 | 0 |
17:7674227:G | M246L | missense_variant | 1.00 | 0 |
17:7675136:T | A159D | missense_variant | 1.00 | 0 |
17:7675136:C | A159G | missense_variant | 1.00 | 0 |
17:7674890:A | H214L | missense_variant | 1.00 | 0 |
17:7674890:G | H214P | missense_variant | 1.00 | 0 |
17:7675160:A | P151L | missense_variant | 1.00 | 0 |
17:7674241:C | S241C | missense_variant | 1.00 | 0 |
17:7675128:A | I162F | missense_variant | 1.00 | 0 |
17:7675128:C | I162V | missense_variant | 1.00 | 0 |
17:7675128:G | I162L | missense_variant | 1.00 | 0 |
17:7674242:C | S241A | missense_variant | 1.00 | 0 |
17:7674242:T | S241T | missense_variant | 1.00 | 0 |
17:7674242:G | S241P | missense_variant | 1.00 | 0 |
17:7674918:T | Y205N | missense_variant | 1.00 | 0 |
17:7674918:C | Y205D | missense_variant | 1.00 | 0 |
17:7674859:T | E224E | splice_region_variant | 1.00 | 0 |
17:7673766:G | E285A | missense_variant | 1.00 | 0 |
17:7673766:C | E285G | missense_variant | 1.00 | 0 |
17:7673766:A | E285V | missense_variant | 1.00 | 0 |
17:7674873:G | Y220H | missense_variant | 1.00 | 0 |
17:7675094:T | V173E | missense_variant | 1.00 | 0 |
17:7675086:G | C176R | missense_variant | 1.00 | 0 |
17:7675097:G | V172A | missense_variant | 1.00 | 0 |
17:7675097:C | V172G | missense_variant | 1.00 | 0 |
17:7675094:G | V173A | missense_variant | 1.00 | 0 |
17:7675097:T | V172D | missense_variant | 1.00 | 0 |
17:7675094:C | V173G | missense_variant | 1.00 | 0 |
17:7673749:A | K291* | stop_gained | 1.00 | 0 |
17:7675236:G | Y126H | missense_variant | 1.00 | 0 |
17:7674254:A | M237L | missense_variant | 1.00 | 0 |
17:7674254:G | M237L | missense_variant | 1.00 | 0 |
17:7674254:C | M237V | missense_variant | 1.00 | 0 |
17:7673812:T | F270I | missense_variant | 1.00 | 0 |
17:7673797:G | C275R | missense_variant | 1.00 | 0 |
17:7673797:T | C275S | missense_variant | 1.00 | 0 |
17:7673799:C | V274G | missense_variant | 1.00 | 0 |
17:7673799:T | V274D | missense_variant | 1.00 | 0 |
17:7673812:C | F270V | missense_variant | 1.00 | 0 |
17:7673812:G | F270L | missense_variant | 1.00 | 0 |
17:7674212:C | I251V | missense_variant | 1.00 | 0 |
17:7674212:A | I251F | missense_variant | 1.00 | 0 |
17:7674951:A | L194F | missense_variant | 1.00 | 0 |
17:7674951:C | L194V | missense_variant | 1.00 | 0 |
17:7674951:T | L194I | missense_variant | 1.00 | 0 |
17:7675077:T | H179N | missense_variant | 1.00 | 0 |
17:7675077:C | H179D | missense_variant | 1.00 | 0 |
17:7673788:C | P278A | missense_variant | 1.00 | 0 |
17:7673788:T | P278T | missense_variant | 1.00 | 0 |
17:7675235:A | Y126F | missense_variant | 1.00 | 0 |
17:7674263:T | Y234N | missense_variant | 1.00 | 0 |
17:7674263:G | Y234H | missense_variant | 1.00 | 0 |
17:7674263:C | Y234D | missense_variant | 1.00 | 0 |
17:7674948:G | I195L | missense_variant | 1.00 | 0 |
17:7674948:C | I195V | missense_variant | 1.00 | 0 |
17:7674953:C | H193R | missense_variant | 1.00 | 0 |
17:7674186:C | D259E | missense_variant | 1.00 | 0 |
17:7674186:T | D259E | missense_variant | 1.00 | 0 |
17:7674188:T | D259N | missense_variant | 1.00 | 0 |
17:7674188:G | D259H | missense_variant | 1.00 | 0 |
17:7674881:T | V217E | missense_variant | 1.00 | 0 |
17:7674881:G | V217A | missense_variant | 1.00 | 0 |
17:7670703:A | E336* | stop_gained | 1.00 | 0 |
17:7674226:T | M246K | missense_variant | 1.00 | 0 |
17:7674239:T | C242S | missense_variant | 1.00 | 0 |
17:7674226:G | M246T | missense_variant | 1.00 | 0 |
17:7674239:G | C242R | missense_variant | 1.00 | 0 |
17:7674201:C | I254M | missense_variant | 1.00 | 0 |
17:7674203:A | I254F | missense_variant | 1.00 | 0 |
17:7674203:G | I254L | missense_variant | 1.00 | 0 |
17:7674203:C | I254V | missense_variant | 1.00 | 0 |
17:7674256:A | Y236F | missense_variant | 1.00 | 0 |
17:7674256:G | Y236S | missense_variant | 1.00 | 0 |
17:7674921:A | E204* | stop_gained | 1.00 | 0 |
17:7675223:G | L130P | missense_variant | 1.00 | 0 |
17:7675223:C | L130R | missense_variant | 1.00 | 0 |
17:7675223:T | L130H | missense_variant | 1.00 | 0 |
17:7674884:C | V216G | missense_variant | 1.00 | 0 |
17:7674884:T | V216E | missense_variant | 1.00 | 0 |
17:7674884:G | V216A | missense_variant | 1.00 | 0 |
17:7674262:G | Y234S | missense_variant | 1.00 | 0 |
17:7674262:A | Y234F | missense_variant | 1.00 | 0 |
17:7674215:A | P250S | missense_variant | 1.00 | 0 |
17:7674214:C | P250R | missense_variant | 1.00 | 0 |
17:7674215:T | P250T | missense_variant | 1.00 | 0 |
17:7674214:T | P250H | missense_variant | 1.00 | 0 |
17:7674215:C | P250A | missense_variant | 1.00 | 0 |
17:7674891:C | H214D | missense_variant | 1.00 | 0 |
17:7674891:T | H214N | missense_variant | 1.00 | 0 |
17:7674891:A | H214Y | missense_variant | 1.00 | 0 |
17:7675174:T | W146* | stop_gained | 1.00 | 0 |
17:7673552:A | E326* | stop_gained | 1.00 | 0 |
17:7675209:C | C135G | missense_variant | 1.00 | 0 |
17:7675178:C | L145R | missense_variant | 1.00 | 0 |
17:7675214:G | M133T | missense_variant | 1.00 | 0 |
17:7675214:T | M133K | missense_variant | 1.00 | 0 |
17:7675209:G | C135R | missense_variant | 1.00 | 0 |
17:7675209:T | C135S | missense_variant | 1.00 | 0 |
17:7675212:C | F134V | missense_variant | 1.00 | 0 |
17:7675212:T | F134I | missense_variant | 1.00 | 0 |
17:7675158:T | P152T | missense_variant | 1.00 | 0 |
17:7675130:A | A161V | missense_variant | 1.00 | 0 |
17:7675158:A | P152S | missense_variant | 1.00 | 0 |
17:7675157:C | P152R | missense_variant | 1.00 | 0 |
17:7675158:C | P152A | missense_variant | 1.00 | 0 |
17:7675130:C | A161G | missense_variant | 1.00 | 0 |
17:7675157:T | P152Q | missense_variant | 1.00 | 0 |
17:7675142:C | V157G | missense_variant | 1.00 | 0 |
17:7675127:C | I162S | missense_variant | 1.00 | 0 |
17:7675142:G | V157A | missense_variant | 1.00 | 0 |
17:7675125:G | Y163H | missense_variant | 1.00 | 0 |
17:7675125:C | Y163D | missense_variant | 1.00 | 0 |
17:7675142:T | V157D | missense_variant | 1.00 | 0 |
17:7675125:T | Y163N | missense_variant | 1.00 | 0 |
17:7675127:G | I162T | missense_variant | 1.00 | 0 |
17:7674257:C | Y236D | missense_variant | 1.00 | 0 |
17:7674257:G | Y236H | missense_variant | 1.00 | 0 |
17:7676096:T | W91* | stop_gained | 1.00 | 0 |
17:7675108:T | H168Q | missense_variant | 1.00 | 0 |
17:7675108:C | H168Q | missense_variant | 1.00 | 0 |
17:7676185:A | E62* | stop_gained | 1.00 | 0 |
17:7674198:C | I255M | missense_variant | 1.00 | 0 |
17:7674253:T | M237K | missense_variant | 1.00 | 0 |
17:7674253:G | M237T | missense_variant | 1.00 | 0 |
17:7674251:C | C238G | missense_variant | 1.00 | 0 |
17:7674251:T | C238S | missense_variant | 1.00 | 0 |
17:7674253:C | M237R | missense_variant | 1.00 | 0 |
17:7674944:T | R196Q | missense_variant | 1.00 | 0 |
17:7674944:A | R196L | missense_variant | 1.00 | 0 |
17:7674194:C | L257V | missense_variant | 1.00 | 0 |
17:7674194:T | L257M | missense_variant | 1.00 | 0 |
17:7674210:C | I251M | missense_variant | 1.00 | 0 |
17:7674947:C | I195S | missense_variant | 1.00 | 0 |
17:7674950:G | L194P | missense_variant | 1.00 | 0 |
17:7674947:T | I195N | missense_variant | 1.00 | 0 |
17:7674954:C | H193D | missense_variant | 1.00 | 0 |
17:7674954:T | H193N | missense_variant | 1.00 | 0 |
17:7674249:C | C238W | missense_variant | 1.00 | 0 |
17:7675232:C | S127C | missense_variant | 1.00 | 0 |
17:7674962:T | P190H | missense_variant | 1.00 | 0 |
17:7674962:C | P190R | missense_variant | 1.00 | 0 |
17:7674211:G | I251T | missense_variant | 1.00 | 0 |
17:7674211:C | I251S | missense_variant | 1.00 | 0 |
17:7674211:T | I251N | missense_variant | 1.00 | 0 |
17:7674199:T | I255N | missense_variant | 1.00 | 0 |
17:7674202:G | I254T | missense_variant | 1.00 | 0 |
17:7674202:T | I254N | missense_variant | 1.00 | 0 |
17:7674193:T | L257Q | missense_variant | 1.00 | 0 |
17:7674193:C | L257R | missense_variant | 1.00 | 0 |
17:7674199:C | I255S | missense_variant | 1.00 | 0 |
17:7674963:T | P190T | missense_variant | 1.00 | 0 |
17:7674963:C | P190A | missense_variant | 1.00 | 0 |
17:7674963:A | P190S | missense_variant | 1.00 | 0 |
17:7675220:C | N131S | missense_variant | 1.00 | 0 |
17:7675220:G | N131T | missense_variant | 1.00 | 0 |
17:7675221:A | N131Y | missense_variant | 1.00 | 0 |
17:7675221:C | N131D | missense_variant | 1.00 | 0 |
17:7675221:G | N131H | missense_variant | 1.00 | 0 |
17:7675190:A | C141F | missense_variant | 1.00 | 0 |
17:7675190:G | C141S | missense_variant | 1.00 | 0 |
17:7673535:T | Q331Q | splice_region_variant | 1.00 | 0 |
17:7676525:A | K24* | stop_gained | 1.00 | 0 |
17:7675066:T | C182* | stop_gained | 1.00 | 0 |
17:7674941:G | V197A | missense_variant | 1.00 | 0 |
17:7674941:T | V197E | missense_variant | 1.00 | 0 |
17:7674941:C | V197G | missense_variant | 1.00 | 0 |
17:7676068:A | K101* | stop_gained | 1.00 | 0 |
17:7673746:A | K292* | stop_gained | 1.00 | 0 |
17:7676578:T | S6* | stop_gained | 1.00 | 0 |
17:7676578:C | S6* | stop_gained | 1.00 | 0 |
17:7675064:T | S183* | stop_gained | 1.00 | 0 |
17:7675143:G | V157L | missense_variant | 1.00 | 0 |
17:7675143:T | V157I | missense_variant | 1.00 | 0 |
17:7675224:T | L130I | missense_variant | 1.00 | 0 |
17:7675224:C | L130V | missense_variant | 1.00 | 0 |
17:7674945:C | R196G | missense_variant | 0.99 | 0 |
17:7674956:A | Q192L | missense_variant | 0.99 | 0 |
17:7674956:C | Q192R | missense_variant | 0.99 | 0 |
17:7674956:G | Q192P | missense_variant | 0.99 | 0 |
17:7675208:A | C135F | missense_variant | 0.99 | 0 |
17:7675208:G | C135S | missense_variant | 0.99 | 0 |
17:7673805:T | V272E | missense_variant | 0.99 | 0 |
17:7673816:C | N268K | missense_variant | 0.99 | 0 |
17:7673816:T | N268K | missense_variant | 0.99 | 0 |
17:7674957:C | Q192E | missense_variant | 0.99 | 0 |
17:7674957:T | Q192K | missense_variant | 0.99 | 0 |
17:7675233:G | S127P | missense_variant | 0.99 | 0 |
17:7675233:C | S127A | missense_variant | 0.99 | 0 |
17:7675233:T | S127T | missense_variant | 0.99 | 0 |
17:7676203:A | E56* | stop_gained | 0.99 | 0 |
17:7675217:A | K132M | missense_variant | 0.99 | 0 |
17:7675218:C | K132E | missense_variant | 0.99 | 0 |
17:7675101:A | E171* | stop_gained | 0.99 | 0 |
17:7674914:T | L206* | stop_gained | 0.99 | 0 |
17:7674946:C | I195M | missense_variant | 0.99 | 0 |
17:7674942:A | V197L | missense_variant | 0.99 | 0 |
17:7674942:G | V197L | missense_variant | 0.99 | 0 |
17:7670658:A | K351* | stop_gained | 0.99 | 0 |
17:7675191:G | C141R | missense_variant | 0.99 | 0 |
17:7675191:C | C141G | missense_variant | 0.99 | 0 |
17:7675191:T | C141S | missense_variant | 0.99 | 0 |
17:7673570:A | K320* | stop_gained | 0.99 | 0 |
17:7674861:A | E224* | stop_gained | 0.98 | 0 |
17:7675123:T | Y163* | stop_gained | 0.98 | 0 |
17:7675123:C | Y163* | stop_gained | 0.98 | 0 |
17:7675215:G | M133L | missense_variant | 0.98 | 0 |
17:7675215:C | M133V | missense_variant | 0.98 | 0 |
17:7675215:A | M133L | missense_variant | 0.98 | 0 |
17:7674276:T | C229* | stop_gained | 0.98 | 0 |
17:7675115:C | S166* | stop_gained | 0.98 | 0 |
17:7674906:A | R209* | stop_gained | 0.98 | 0 |
17:7675211:T | F134Y | missense_variant | 0.98 | 0 |
17:7675211:G | F134S | missense_variant | 0.98 | 0 |
17:7676382:A | L32L | splice_region_variant | 0.98 | 0 |
17:7676382:T | L32L | splice_region_variant | 0.98 | 0 |
17:7676382:G | L32L | splice_region_variant | 0.98 | 0 |
17:7673765:G | E285D | missense_variant | 0.98 | 0 |
17:7673765:A | E285D | missense_variant | 0.98 | 0 |
17:7673810:C | F270L | missense_variant | 0.98 | 0 |
17:7673810:T | F270L | missense_variant | 0.98 | 0 |
17:7669668:A | Q375* | stop_gained | 0.98 | 0 |
17:7673809:A | E271* | stop_gained | 0.98 | 0 |
17:7676591:A | E2* | stop_gained | 0.98 | 0 |
17:7673800:T | V274I | missense_variant | 0.97 | 0 |
17:7673800:G | V274L | missense_variant | 0.97 | 0 |
17:7674218:A | R249W | missense_variant | 0.97 | 0 |
17:7674218:C | R249G | missense_variant | 0.97 | 0 |
17:7676048:C | Y107* | stop_gained | 0.97 | 0 |
17:7676048:T | Y107* | stop_gained | 0.97 | 0 |
17:7675122:A | K164* | stop_gained | 0.97 | 0 |
17:7670640:A | K357* | stop_gained | 0.97 | 0 |
17:7673782:A | R280* | stop_gained | 0.97 | 0 |
17:7675216:G | K132N | missense_variant | 0.97 | 0 |
17:7673780:A | R280S | missense_variant | 0.96 | 0 |
17:7673780:G | R280S | missense_variant | 0.96 | 0 |
17:7673818:C | N268D | missense_variant | 0.96 | 0 |
17:7673818:A | N268Y | missense_variant | 0.96 | 0 |
17:7673818:G | N268H | missense_variant | 0.96 | 0 |
17:7676396:A | E28* | stop_gained | 0.96 | 0 |
17:7669690:A | S367S | splice_region_variant | 0.96 | 0 |
17:7676218:A | E51* | stop_gained | 0.96 | 0 |
17:7676546:A | E17* | stop_gained | 0.96 | 0 |
17:7675210:C | F134L | missense_variant | 0.96 | 0 |
17:7675210:T | F134L | missense_variant | 0.96 | 0 |
17:7676176:A | R65* | stop_gained | 0.96 | 0 |
17:7676265:T | L35* | stop_gained | 0.95 | 0 |
17:7676582:A | Q5* | stop_gained | 0.95 | 0 |
17:7669629:A | E388* | stop_gained | 0.95 | 0 |
17:7676564:A | E11* | stop_gained | 0.95 | 0 |
17:7675084:T | C176* | stop_gained | 0.95 | 0 |
17:7675234:T | Y126* | stop_gained | 0.95 | 0 |
17:7675234:C | Y126* | stop_gained | 0.95 | 0 |
17:7673761:A | E287* | stop_gained | 0.95 | 0 |
17:7675090:G | R174S | missense_variant | 0.95 | 0 |
17:7675090:A | R174S | missense_variant | 0.95 | 0 |
17:7674893:T | R213Q | missense_variant | 0.95 | 0 |
17:7674893:G | R213P | missense_variant | 0.95 | 0 |
17:7675075:T | H179Q | missense_variant | 0.95 | 0 |
17:7673789:T | C277* | stop_gained | 0.95 | 0 |
17:7675091:T | R174K | missense_variant | 0.95 | 0 |
17:7675091:A | R174M | missense_variant | 0.95 | 0 |
17:7675091:G | R174T | missense_variant | 0.95 | 0 |
17:7675189:T | C141* | stop_gained | 0.94 | 0 |
17:7673795:T | C275* | stop_gained | 0.94 | 0 |
17:7674969:A | L188L | splice_region_variant | 0.94 | 0 |
17:7674929:T | L201* | stop_gained | 0.94 | 0 |
17:7670682:A | E343* | stop_gained | 0.94 | 0 |
17:7675074:A | E180* | stop_gained | 0.93 | 0 |
17:7674261:T | Y234* | stop_gained | 0.93 | 0 |
17:7674255:C | Y236* | stop_gained | 0.93 | 0 |
17:7670694:A | E339* | stop_gained | 0.93 | 0 |
17:7674249:T | C238* | stop_gained | 0.93 | 0 |
17:7676536:T | S20* | stop_gained | 0.92 | 0 |
17:7676536:C | S20* | stop_gained | 0.92 | 0 |
17:7674952:C | H193Q | missense_variant | 0.92 | 0 |
17:7674952:T | H193Q | missense_variant | 0.92 | 0 |
17:7676071:A | Q100* | stop_gained | 0.92 | 0 |
17:7673767:A | E285* | stop_gained | 0.91 | 0 |
17:7674200:G | I255L | missense_variant | 0.91 | 0 |
17:7674200:A | I255F | missense_variant | 0.91 | 0 |
17:7674200:C | I255V | missense_variant | 0.91 | 0 |
17:7673555:A | G325* | stop_gained | 0.91 | 0 |
17:7670649:A | Q354* | stop_gained | 0.90 | 0 |
17:7674886:C | S215R | missense_variant | 0.90 | 0 |
17:7674886:T | S215R | missense_variant | 0.90 | 0 |
17:7673567:A | K321* | stop_gained | 0.90 | 0 |
17:7669683:A | K370* | stop_gained | 0.89 | 0 |
17:7669635:A | K386* | stop_gained | 0.89 | 0 |
17:7669647:A | K382* | stop_gained | 0.89 | 0 |
17:7669674:A | K373* | stop_gained | 0.89 | 0 |
17:7669677:A | K372* | stop_gained | 0.89 | 0 |
17:7674870:A | E221* | stop_gained | 0.88 | 0 |
17:7673702:G | R306R | splice_region_variant | 0.88 | 0 |
17:7673702:C | R306R | splice_region_variant | 0.88 | 0 |
17:7673702:A | R306R | splice_region_variant | 0.88 | 0 |
17:7676522:A | L25L | splice_region_variant | 0.87 | 0 |
17:7674939:A | E198* | stop_gained | 0.87 | 0 |
17:7676241:T | L43* | stop_gained | 0.87 | 0 |
17:7675182:A | Q144* | stop_gained | 0.87 | 0 |
17:7670666:T | L348* | stop_gained | 0.86 | 0 |
17:7675234:A | Y126Y | splice_region_variant | 0.85 | 0 |
17:7670700:T | R337S | missense_variant | 0.84 | 0 |
17:7670700:C | R337G | missense_variant | 0.84 | 0 |
17:7674183:A | S260S | splice_region_variant | 0.84 | 0 |
17:7674183:T | S260S | splice_region_variant | 0.84 | 0 |
17:7674183:C | S260S | splice_region_variant | 0.84 | 0 |
17:7676384:A | L32L | splice_region_variant | 0.84 | 0 |
17:7670637:A | E358* | stop_gained | 0.83 | 0 |
17:7674889:C | H214Q | missense_variant | 0.83 | 0 |
17:7674889:T | H214Q | missense_variant | 0.83 | 0 |
17:7676527:T | W23* | stop_gained | 0.83 | 0 |
17:7670664:A | E349* | stop_gained | 0.83 | 0 |
17:7676588:A | E3* | stop_gained | 0.82 | 0 |
17:7676526:T | W23* | stop_gained | 0.82 | 0 |
17:7674882:A | V217L | missense_variant | 0.82 | 0 |
17:7674882:T | V217M | missense_variant | 0.82 | 0 |
17:7674882:G | V217L | missense_variant | 0.82 | 0 |
17:7674955:G | Q192H | missense_variant | 0.81 | 0 |
17:7676028:T | L114* | stop_gained | 0.81 | 0 |
17:7675197:A | K139* | stop_gained | 0.80 | 0 |
17:7674894:C | R213G | missense_variant | 0.80 | 0 |
17:7676011:A | K120* | stop_gained | 0.80 | 0 |
17:7675179:C | L145V | missense_variant | 0.79 | 0 |
17:7675179:T | L145M | missense_variant | 0.79 | 0 |
17:7676060:T | Y103* | stop_gained | 0.78 | 0 |
17:7676060:C | Y103* | stop_gained | 0.78 | 0 |
17:7673707:A | K305* | stop_gained | 0.77 | 0 |
17:7669616:T | S392* | stop_gained | 0.77 | 0 |
17:7669616:C | S392* | stop_gained | 0.77 | 0 |
17:7669650:A | K381* | stop_gained | 0.75 | 0 |
17:7674916:T | Y205* | stop_gained | 0.74 | 0 |
17:7674916:C | Y205* | stop_gained | 0.74 | 0 |
17:7675218:A | K132* | stop_gained | 0.74 | 0 |
17:7676088:T | S94* | stop_gained | 0.72 | 0 |
17:7676088:C | S94* | stop_gained | 0.72 | 0 |
17:7674871:T | Y220* | stop_gained | 0.71 | 0 |
17:7674871:C | Y220* | stop_gained | 0.71 | 0 |
17:7676549:A | Q16* | stop_gained | 0.71 | 0 |
17:7675101:T | E171K | missense_variant | 0.69 | 0 |
17:7675101:G | E171Q | missense_variant | 0.69 | 0 |
17:7676051:T | S106R | missense_variant | 0.69 | 0 |
17:7676052:G | S106T | missense_variant | 0.61 | 0 |
17:7676052:A | S106I | missense_variant | 0.61 | 0 |
17:7676052:T | S106N | missense_variant | 0.61 | 0 |
17:7674233:A | G244C | missense_variant | 0.55 | 0 |
17:7674232:G | G244A | missense_variant | 0.55 | 0 |
17:7674232:T | G244D | missense_variant | 0.55 | 0 |
17:7674233:G | G244R | missense_variant | 0.55 | 0 |
17:7674233:T | G244S | missense_variant | 0.55 | 0 |
17:7674232:A | G244V | missense_variant | 0.55 | 0 |
17:7676053:A | S106C | missense_variant | 0.55 | 0 |
17:7676053:C | S106G | missense_variant | 0.55 | 0 |
17:7676053:G | S106R | missense_variant | 0.55 | 0 |
17:7673794:G | A276P | missense_variant | 0.55 | 0 |
17:7673835:T | G262D | missense_variant | 0.55 | 0 |
17:7673835:G | G262A | missense_variant | 0.55 | 0 |
17:7673820:T | R267Q | missense_variant | 0.55 | 0 |
17:7673820:G | R267P | missense_variant | 0.55 | 0 |
17:7673785:A | G279W | missense_variant | 0.55 | 0 |
17:7673785:G | G279R | missense_variant | 0.55 | 0 |
17:7673785:T | G279R | missense_variant | 0.55 | 0 |
17:7673794:T | A276T | missense_variant | 0.55 | 0 |
17:7673794:A | A276S | missense_variant | 0.55 | 0 |
17:7673820:A | R267L | missense_variant | 0.55 | 0 |
17:7673809:T | E271K | missense_variant | 0.55 | 0 |
17:7673809:G | E271Q | missense_variant | 0.55 | 0 |
17:7676040:T | R110H | missense_variant | 0.54 | 0 |
17:7675219:C | N131K | missense_variant | 0.53 | 0 |
17:7675219:T | N131K | missense_variant | 0.53 | 0 |
17:7674899:T | T211N | missense_variant | 0.52 | 0 |
17:7674899:C | T211S | missense_variant | 0.52 | 0 |
Cancer type | Selected cancer type | Mutational discovery Index | Feature Complexity |
---|---|---|---|
(PAAD) Pancreas adenocarcinoma | PAAD | 0.60 | 0.39 |