Gene Name HGNC ID COSMIC_MutID Primary sitePrimary histology AA-Mutation Mutation Type Genomic PositionFATHMM predictionFATHMM scoreLiterature evidence
IRS16125COSM6982642, endometriumcarcinomap.V1087ASubstitution - Missense2:226795479-226795479, PATHOGENIC0.9837528481359
IRS16125COSM6932576, large_intestinecarcinomap.S415LSubstitution - Missense2:226797495-226797495, PATHOGENIC0.9823928481359
IRS16125COSM6949178, autonomic_ganglianeuroblastomap.P294TSubstitution - Missense2:226797859-226797859, PATHOGENIC0.9817328481359
IRS16125COSM6940299, urinary_tractcarcinomap.P292SSubstitution - Missense2:226797865-226797865, PATHOGENIC0.9793828481359
IRS16125COSM6926030, skincarcinomap.P435LSubstitution - Missense2:226797435-226797435, PATHOGENIC0.9793628481359
IRS16125COSM6926030, skinmalignant_melanomap.P435LSubstitution - Missense2:226797435-226797435, PATHOGENIC0.9793628481359
IRS16125COSM6949822, urinary_tractcarcinomap.S383WSubstitution - Missense2:226797591-226797591, PATHOGENIC0.9754828481359
IRS16125COSM6968901, small_intestinecarcinomap.G146RSubstitution - Missense2:226798303-226798303, PATHOGENIC0.9742928481359
IRS16125COSM6925319, lungcarcinomap.G424CSubstitution - Missense2:226797469-226797469, PATHOGENIC0.9739528481359
IRS16125COSM6687361, central_nervous_systemgliomap.T453ISubstitution - Missense2:226797381-226797381, PATHOGENIC0.9734728481359
IRS16125COSM6979029, lungcarcinomap.S444ISubstitution - Missense2:226797408-226797408, PATHOGENIC0.9723128481359
IRS16125COSM6944795, urinary_tractcarcinomap.S341LSubstitution - Missense2:226797717-226797717, PATHOGENIC0.9721828481359
IRS16125COSM6959784, lungcarcinomap.S228CSubstitution - Missense2:226798056-226798056, PATHOGENIC0.9716328481359
IRS16125COSM6931640, central_nervous_systemgliomap.G661DSubstitution - Missense2:226796757-226796757, PATHOGENIC0.9713228481359
IRS16125COSM6975303, large_intestinecarcinomap.D422NSubstitution - Missense2:226797475-226797475, PATHOGENIC0.9695728481359
IRS16125COSM6927518, urinary_tractcarcinomap.S217*Substitution - Nonsense2:226798089-226798089, PATHOGENIC0.9689928481359
IRS16125COSM6939918, urinary_tractcarcinomap.E306KSubstitution - Missense2:226797823-226797823, PATHOGENIC0.9615628481359
IRS16125COSM6964859, lungcarcinomap.R302LSubstitution - Missense2:226797834-226797834, PATHOGENIC0.961128481359
IRS16125COSM6940104, bonechondrosarcomap.V244LSubstitution - Missense2:226798009-226798009, PATHOGENIC0.9593328481359
IRS16125COSM3046943, large_intestinecarcinomap.R325HSubstitution - Missense2:226797765-226797765, PATHOGENIC0.9593228481359
IRS16125COSM6915298, lungcarcinomap.W237LSubstitution - Missense2:226798029-226798029, PATHOGENIC0.9592328481359
IRS16125COSM1017262, large_intestinecarcinomap.R776CSubstitution - Missense2:226796413-226796413, PATHOGENIC0.9592128481359
IRS16125COSM6958677, breastcarcinomap.E333KSubstitution - Missense2:226797742-226797742, PATHOGENIC0.9516428481359
IRS16125COSM6962853, large_intestinecarcinomap.T231PSubstitution - Missense2:226798048-226798048, PATHOGENIC0.9508928481359
IRS16125COSM6912255, skincarcinomap.A310VSubstitution - Missense2:226797810-226797810, PATHOGENIC0.9502628481359
IRS16125COSM6945513, lungcarcinomap.L369FSubstitution - Missense2:226797634-226797634, PATHOGENIC0.9481928481359
IRS16125COSM4092043, endometriumcarcinomap.R338HSubstitution - Missense2:226797726-226797726, PATHOGENIC0.9481828481359
IRS16125COSM6958570, prostatecarcinomap.S807YSubstitution - Missense2:226796319-226796319, PATHOGENIC0.9478428481359
IRS16125COSM6959773, biliary_tractcarcinomap.L855PSubstitution - Missense2:226796175-226796175, PATHOGENIC0.9472128481359
IRS16125COSM6984349, endometriumcarcinomap.E235KSubstitution - Missense2:226798036-226798036, PATHOGENIC0.9419728481359
IRS16125COSM6979163, NScarcinomap.G677VSubstitution - Missense2:226796709-226796709, PATHOGENIC0.9410528481359
IRS16125COSM6918117, lungcarcinomap.R381LSubstitution - Missense2:226797597-226797597, PATHOGENIC0.9406828481359
IRS16125COSM6913609, central_nervous_systemgliomap.P346SSubstitution - Missense2:226797703-226797703, PATHOGENIC0.9397828481359
IRS16125COSM6952767, breastcarcinomap.E584KSubstitution - Missense2:226796989-226796989, PATHOGENIC0.9397528481359
IRS16125COSM3046916, thyroidcarcinomap.V640ISubstitution - Missense2:226796821-226796821, PATHOGENIC0.939428481359
IRS16125COSM94523, lungcarcinomap.G677DSubstitution - Missense2:226796709-226796709, PATHOGENIC0.936420668451
IRS16125COSM6973218, stomachcarcinomap.D1181ESubstitution - Missense2:226795196-226795196, PATHOGENIC0.9357928481359
IRS16125COSM5570108, large_intestinecarcinomap.T533ISubstitution - Missense2:226797141-226797141, PATHOGENIC0.9280728481359
IRS16125COSM1614454, ovarycarcinomap.E461GSubstitution - Missense2:226797357-226797357, PATHOGENIC0.9259828481359
IRS16125COSM6908991, testisgerm_cell_tumourp.G17CSubstitution - Missense2:226798690-226798690, PATHOGENIC0.9257228481359
IRS16125COSM94524, ovaryotherp.G529DSubstitution - Missense2:226797153-226797153, PATHOGENIC0.9255320668451
IRS16125COSM6978429, breastcarcinomap.F160ISubstitution - Missense2:226798261-226798261, PATHOGENIC0.9232628481359
IRS16125COSM6910925, skinadnexal_tumourp.S78FSubstitution - Missense2:226798506-226798506, PATHOGENIC0.9207228481359
IRS16125COSM6918445, urinary_tractcarcinomap.A642TSubstitution - Missense2:226796815-226796815, PATHOGENIC0.9184328481359
IRS16125COSM35397, urinary_tractcarcinomap.S428LSubstitution - Missense2:226797456-226797456, PATHOGENIC0.9173728481359
IRS16125COSM6911574, breastcarcinomap.L289FSubstitution - Missense2:226797874-226797874, PATHOGENIC0.9073728481359
IRS16125COSM6927732, lungcarcinomap.S441YSubstitution - Missense2:226797417-226797417, PATHOGENIC0.9071528481359
IRS16125COSM6961071, lungcarcinomap.M992KSubstitution - Missense2:226795764-226795764, PATHOGENIC0.9057428481359
IRS16125COSM6967130, lungcarcinomap.S815ISubstitution - Missense2:226796295-226796295, PATHOGENIC0.894728481359
IRS16125COSM6052780, lungcarcinomap.R364QSubstitution - Missense2:226797648-226797648, PATHOGENIC0.8897728481359
IRS16125COSM6052780, lungcarcinomap.R364QSubstitution - Missense2:226797648-226797648, PATHOGENIC0.8897728481359
IRS16125COSM1210919, large_intestinecarcinomap.K177NSubstitution - Missense2:226798208-226798208, PATHOGENIC0.8874628481359
IRS16125COSM6933940, urinary_tractcarcinomap.E91KSubstitution - Missense2:226798468-226798468, PATHOGENIC0.8872928481359
IRS16125COSM6921361, central_nervous_systemgliomap.G401DSubstitution - Missense2:226797537-226797537, PATHOGENIC0.8848728481359
IRS16125COSM6895577, urinary_tractcarcinomap.E100KSubstitution - Missense2:226798441-226798441, PATHOGENIC0.8837828481359
IRS16125COSM6960586, lungcarcinomap.F324LSubstitution - Missense2:226797767-226797767, PATHOGENIC0.8833328481359
IRS16125COSM6964966, skinmalignant_melanomap.S441FSubstitution - Missense2:226797417-226797417, PATHOGENIC0.8821128481359
IRS16125COSM6919045, lungcarcinomap.H713QSubstitution - Missense2:226796600-226796600, PATHOGENIC0.8813828481359
IRS16125COSM6971450, stomachcarcinomap.R325CSubstitution - Missense2:226797766-226797766, PATHOGENIC0.878228481359
IRS16125COSM6946056, soft_tissuesynovial_sarcomap.R439QSubstitution - Missense2:226797423-226797423, PATHOGENIC0.8763228481359
IRS16125COSM39670, central_nervous_systemgliomap.Y47CSubstitution - Missense2:226798599-226798599, PATHOGENIC0.8752918772396
IRS16125COSM6922262, lungcarcinomap.G458ASubstitution - Missense2:226797366-226797366, PATHOGENIC0.8726628481359
IRS16125COSM5989712, lungcarcinomap.R854LSubstitution - Missense2:226796178-226796178, PATHOGENIC0.8677928481359
IRS16125COSM5989712, haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasmp.R854LSubstitution - Missense2:226796178-226796178, PATHOGENIC0.8677926648538
IRS16125COSM5989712, lungcarcinomap.R854LSubstitution - Missense2:226796178-226796178, PATHOGENIC0.8677928481359
IRS16125COSM6946904, large_intestinecarcinomap.Q537RSubstitution - Missense2:226797129-226797129, PATHOGENIC0.8673828481359
IRS16125COSM5989957, haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasmp.G1212VSubstitution - Missense2:226795104-226795104, PATHOGENIC0.8649826648538
IRS16125COSM6922156, breastcarcinomap.F1188LSubstitution - Missense2:226795175-226795175, PATHOGENIC0.8648428481359
IRS16125COSM6979402, NScarcinomap.G361SSubstitution - Missense2:226797658-226797658, PATHOGENIC0.8574428481359
IRS16125COSM6687363, skinadnexal_tumourp.L185FSubstitution - Missense2:226798186-226798186, PATHOGENIC0.854428481359
IRS16125COSM6913610, central_nervous_systemgliomap.A76TSubstitution - Missense2:226798513-226798513, PATHOGENIC0.8540928481359
IRS16125COSM6943861, lungcarcinomap.T530ASubstitution - Missense2:226797151-226797151, PATHOGENIC0.849228481359
IRS16125COSM6920670, large_intestinecarcinomap.Y695FSubstitution - Missense2:226796655-226796655, PATHOGENIC0.8479428481359
IRS16125COSM6976735, central_nervous_systemgliomap.R652HSubstitution - Missense2:226796784-226796784, PATHOGENIC0.8473728481359
IRS16125COSM6946446, large_intestinecarcinomap.R301CSubstitution - Missense2:226797838-226797838, PATHOGENIC0.8451928481359
IRS16125COSM6948232, central_nervous_systemgliomap.G489DSubstitution - Missense2:226797273-226797273, PATHOGENIC0.8417628481359
IRS16125COSM3046930, pancreascarcinoid-endocrine_tumourp.R411*Substitution - Nonsense2:226797508-226797508, PATHOGENIC0.8365928481359
IRS16125COSM3046930, large_intestinecarcinomap.R411*Substitution - Nonsense2:226797508-226797508, PATHOGENIC0.8365928481359
IRS16125COSM6972008, skinmalignant_melanomap.T403SSubstitution - Missense2:226797532-226797532, PATHOGENIC0.8354128481359
IRS16125COSM6978567, large_intestinecarcinomap.P349LSubstitution - Missense2:226797693-226797693, PATHOGENIC0.825528481359
IRS16125COSM6964860, lungcarcinomap.A34SSubstitution - Missense2:226798639-226798639, PATHOGENIC0.8156828481359
IRS16125COSM6930213, upper_aerodigestive_tractcarcinomap.G134VSubstitution - Missense2:226798338-226798338, PATHOGENIC0.8124328481359
IRS16125COSM6915911, large_intestinecarcinomap.K79ESubstitution - Missense2:226798504-226798504, PATHOGENIC0.8104628481359
IRS16125COSM6911193, lungcarcinomap.G565ESubstitution - Missense2:226797045-226797045, PATHOGENIC0.8044528481359
IRS16125COSM6942688, prostatecarcinomap.P1079SSubstitution - Missense2:226795504-226795504, PATHOGENIC0.7976628481359
IRS16125COSM1531086, endometriumcarcinomap.E37KSubstitution - Missense2:226798630-226798630, PATHOGENIC0.7919928481359
IRS16125COSM1531086, urinary_tractcarcinomap.E37KSubstitution - Missense2:226798630-226798630, PATHOGENIC0.7919928481359
IRS16125COSM1531086, skincarcinomap.E37KSubstitution - Missense2:226798630-226798630, PATHOGENIC0.7919928481359
IRS16125COSM1531086, large_intestinecarcinomap.E37KSubstitution - Missense2:226798630-226798630, PATHOGENIC0.7919928481359
IRS16125COSM1482816, central_nervous_systemgliomap.M733ISubstitution - Missense2:226796540-226796540, PATHOGENIC0.7871428481359
IRS16125COSM6967960, lungcarcinomap.S564ISubstitution - Missense2:226797048-226797048, PATHOGENIC0.770428481359
IRS16125COSM6922174, NScarcinomap.K190NSubstitution - Missense2:226798169-226798169, PATHOGENIC0.7696828481359
IRS16125COSM6935016, large_intestinecarcinomap.N352DSubstitution - Missense2:226797685-226797685, PATHOGENIC0.7634828481359
IRS16125COSM48441, lungcarcinomap.E147DSubstitution - Missense2:226798298-226798298, PATHOGENIC0.7460918948947
IRS16125COSM6933323, haematopoietic_and_lymphoid_tissuelymphoid_neoplasmp.G739ESubstitution - Missense2:226796523-226796523, PATHOGENIC0.732128481359
IRS16125COSM5989967, haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasmp.G138SSubstitution - Missense2:226798327-226798327, PATHOGENIC0.721626648538
IRS16125COSM5989990, haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasmp.M316VSubstitution - Missense2:226797793-226797793, PATHOGENIC0.7118326648538
IRS16125COSM6927591, central_nervous_systemgliomap.A478TSubstitution - Missense2:226797307-226797307, PATHOGENIC0.7107228481359
IRS16125COSM6980821, endometriumcarcinomap.Y558CSubstitution - Missense2:226797066-226797066, PATHOGENIC0.7049228481359
IRS16125COSM4092042, large_intestinecarcinomap.A356TSubstitution - Missense2:226797673-226797673, PATHOGENIC0.703628481359
IRS16125COSM4092042, large_intestinecarcinomap.A356TSubstitution - Missense2:226797673-226797673, PATHOGENIC0.703628481359
IRS16125COSM6543994, breastcarcinomap.G1158ESubstitution - Missense2:226795266-226795266, NEUTRAL0.4954928481359
IRS16125COSM6925756, urinary_tractcarcinomap.V622MSubstitution - Missense2:226796875-226796875, NEUTRAL0.4812728481359
IRS16125COSM6937101, breastcarcinomap.E1023*Substitution - Nonsense2:226795672-226795672, NEUTRAL0.474428481359
IRS16125COSM6951565, urinary_tractcarcinomap.S58RSubstitution - Missense2:226798565-226798565, NEUTRAL0.4702328481359
IRS16125COSM6935783, central_nervous_systemgliomap.T936ISubstitution - Missense2:226795932-226795932, NEUTRAL0.4154228481359
IRS16125COSM6950216, central_nervous_systemgliomap.G1172DSubstitution - Missense2:226795224-226795224, NEUTRAL0.3867328481359
IRS16125COSM94522, lungcarcinomap.A849SSubstitution - Missense2:226796194-226796194, NEUTRAL0.3807920668451
IRS16125COSM6687367, large_intestinecarcinomap.G141SSubstitution - Missense2:226798318-226798318, NEUTRAL0.368528481359
IRS16125COSM6982643, endometriumcarcinomap.L946PSubstitution - Missense2:226795902-226795902, NEUTRAL0.3562928481359
IRS16125COSM6946726, testisgerm_cell_tumourp.S1078ISubstitution - Missense2:226795506-226795506, NEUTRAL0.3358428481359
IRS16125COSM1017265, large_intestinecarcinomap.R520WSubstitution - Missense2:226797181-226797181, NEUTRAL0.3282428481359
IRS16125COSM6961307, skinmalignant_melanomap.L885QSubstitution - Missense2:226796085-226796085, NEUTRAL0.3204328481359
IRS16125COSM6913902, thyroidadenoma-nodule-goitrep.P1009SSubstitution - Missense2:226795714-226795714, NEUTRAL0.3028128481359
IRS16125COSM6923596, large_intestinecarcinomap.S828NSubstitution - Missense2:226796256-226796256, NEUTRAL0.3019928481359
IRS16125COSM6917135, ovarycarcinomap.Q1209ESubstitution - Missense2:226795114-226795114, NEUTRAL0.2951928481359
IRS16125COSM48439, lungcarcinomap.D1003HSubstitution - Missense2:226795732-226795732, NEUTRAL0.2944818948947
IRS16125COSM6687387, lungcarcinomap.R1220CSubstitution - Missense2:226795081-226795081, NEUTRAL0.2907428481359
IRS16125COSM6959026, large_intestinecarcinomap.S682CSubstitution - Missense2:226796695-226796695, NEUTRAL0.2898828481359
IRS16125COSM6983801, salivary_glandcarcinomap.L142FSubstitution - Missense2:226798315-226798315, NEUTRAL0.2786428481359
IRS16125COSM6948231, central_nervous_systemgliomap.S985NSubstitution - Missense2:226795785-226795785, NEUTRAL0.255328481359
IRS16125COSM6978000, lungcarcinomap.R932ISubstitution - Missense2:226795944-226795944, NEUTRAL0.2486328481359
IRS16125COSM6925357, NScarcinomap.G1120VSubstitution - Missense2:226795380-226795380, NEUTRAL0.2284328481359
IRS16125COSM6933208, lungcarcinomap.R1028SSubstitution - Missense2:226795655-226795655, NEUTRAL0.2040428481359
IRS16125COSM6931641, central_nervous_systemgliomap.G628DSubstitution - Missense2:226796856-226796856, NEUTRAL0.2027928481359
IRS16125COSM6950994, lungcarcinomap.I975TSubstitution - Missense2:226795815-226795815, NEUTRAL0.1794628481359
IRS16125COSM48440, lungcarcinomap.V154LSubstitution - Missense2:226798279-226798279, NEUTRAL0.1761318948947
IRS16125COSM6969203, lungcarcinomap.G497ESubstitution - Missense2:226797249-226797249, NEUTRAL0.1519128481359
IRS16125COSM6984824, large_intestinecarcinomap.S1043FSubstitution - Missense2:226795611-226795611, NEUTRAL0.1516528481359
IRS16125COSM4092037, large_intestinecarcinomap.R1081HSubstitution - Missense2:226795497-226795497, NEUTRAL0.1490428481359
IRS16125COSM6687393, endometriumcarcinomap.A688TSubstitution - Missense2:226796677-226796677, NEUTRAL0.1440128481359
IRS16125COSM6954946, large_intestinecarcinomap.H1208RSubstitution - Missense2:226795116-226795116, NEUTRAL0.109828481359
IRS16125COSM6911449, livercarcinomap.A379PSubstitution - Missense2:226797604-226797604, NEUTRAL0.107328481359
IRS16125COSM6936523, biliary_tractcarcinomap.E961KSubstitution - Missense2:226795858-226795858, NEUTRAL0.087628481359
IRS16125COSM1405919, COSM1724776, COSM3046871, COSM3046940, COSM4310415, COSM6687389, COSM6910281, COSM6917522, COSM6922160, COSM6928846, COSM6930442, COSM6932864, COSM6934199, COSM6936082, COSM6936137, COSM6938464, COSM6938465, COSM6939347, COSM6944994, COSM6948045, COSM6955407, COSM6956399, COSM6959749, COSM6962284, COSM6965690, COSM6966926, COSM6967386, COSM6968977, COSM6969788, COSM6971125, COSM6972006, COSM6973745, COSM6974851, COSM6977329, COSM6981352, COSM6986070, COSM6986126, NS, biliary_tract, breast, central_nervous_system, endometrium, large_intestine, lung, oesophagus, pancreas, prostate, skin, small_intestine, stomach, thyroid, urinary_tractcarcinoma, glioma, malignant_melanomap.A1164V, p.A356P, p.A59V, p.E588*, p.G1127fs*12, p.G131V, p.G40V, p.G630E, p.G9D, p.H598R, p.H598fs*38, p.H599Q, p.H833P, p.H916Y, p.K1165E, p.K27R, p.K52delK, p.M377fs*20, p.N1178fs*3, p.P1238_Q1242delPEDRQ, p.P368fs*95, p.P435F, p.P540fs*15, p.P983S, p.Q1064fs*17, p.Q882_P883insQ, p.Q882delQ, p.R1016Q, p.R1220fs*5, p.R1241C, p.R212S, p.S1038delS, p.S11L, p.S140F, p.S668fs*35, p.S792F, p.T979_S984delTRAVPSComplex - frameshift, Deletion - Frameshift, Deletion - In frame, Insertion - Frameshift, Insertion - In frame, Substitution - Missense, Substitution - Nonsense2:226795013-226795027, 2:226795018-226795018, 2:226795080-226795081, 2:226795208-226795208, 2:226795246-226795246, 2:226795248-226795248, 2:226795359-226795359, 2:226795553-226795554, 2:226795632-226795634, 2:226795692-226795692, 2:226795788-226795805, 2:226795792-226795792, 2:226795993-226795993, 2:226796091-226796092, 2:226796092-226796094, 2:226796241-226796241, 2:226796363-226796364, 2:226796733-226796736, 2:226796850-226796850, 2:226796942-226796942, 2:226796946-226796946, 2:226796948-226796948, 2:226796976-226796977, 2:226797119-226797120, 2:226797435-226797436, 2:226797610-226797611, 2:226797636-226797636, 2:226797673-226797673, 2:226798103-226798103, 2:226798320-226798320, 2:226798347-226798347, 2:226798562-226798563, 2:226798583-226798585, 2:226798620-226798620, 2:226798659-226798659, 2:226798707-226798707, 2:226798713-226798713, Info_not_available0.50385, .50921, .53167, .53307, .53419, .53817, .56218, .57602, .57916, .58634, .59818, .60005, .60419, .62068, .65257, .66261, .69232, .69415, Info_not_available28481359