Gene Name | HGNC ID | COSMIC_MutID | Primary site | Primary histology | AA-Mutation | Mutation Type | Genomic Position | FATHMM prediction | FATHMM score | Literature evidence |
AKT2 | 392 | COSM6970339, | lung | carcinoma | p.V147M | Substitution - Missense | 19:40242536-40242536, | PATHOGENIC | 0.99531 | 28481359 |
AKT2 | 392 | COSM6957703, | lung | carcinoma | p.M229V | Substitution - Missense | 19:40238928-40238928, | PATHOGENIC | 0.99511 | 28481359 |
AKT2 | 392 | COSM95694, | lung | carcinoma | p.? | Unknown | 19:40240111-40240111, | PATHOGENIC | 0.99458 | 20668451 |
AKT2 | 392 | COSM6916113, | biliary_tract | carcinoma | p.E200K | Substitution - Missense | 19:40240086-40240086, | PATHOGENIC | 0.99369 | 28481359 |
AKT2 | 392 | COSM6944420, | large_intestine | carcinoma | p.V260F | Substitution - Missense | 19:40238022-40238022, | PATHOGENIC | 0.99091 | 28481359 |
AKT2 | 392 | COSM6598021, | kidney | carcinoma | p.N325S | Substitution - Missense | 19:40236091-40236091, | PATHOGENIC | 0.99068 | 28481359 |
AKT2 | 392 | COSM6598021, | kidney | carcinoma | p.N325S | Substitution - Missense | 19:40236091-40236091, | PATHOGENIC | 0.99068 | 28481359 |
AKT2 | 392 | COSM6920498, | lung | carcinoma | p.D324N | Substitution - Missense | 19:40236095-40236095, | PATHOGENIC | 0.99064 | 28481359 |
AKT2 | 392 | COSM6976982, | lung | carcinoma | p.E137* | Substitution - Nonsense | 19:40242566-40242566, | PATHOGENIC | 0.99 | 28481359 |
AKT2 | 392 | COSM6931034, | kidney | carcinoma | p.R113G | Substitution - Missense | 19:40242638-40242638, | PATHOGENIC | 0.98906 | 28481359 |
AKT2 | 392 | COSM6931034, | kidney | carcinoma | p.R113G | Substitution - Missense | 19:40242638-40242638, | PATHOGENIC | 0.98906 | 28481359 |
AKT2 | 392 | COSM6929095, | central_nervous_system | glioma | p.T72I | Substitution - Missense | 19:40255230-40255230, | PATHOGENIC | 0.98869 | 28481359 |
AKT2 | 392 | COSM6918246, | large_intestine | carcinoma | p.A318V | Substitution - Missense | 19:40236264-40236264, | PATHOGENIC | 0.98834 | 28481359 |
AKT2 | 392 | COSM6920257, | lung | carcinoma | p.K277R | Substitution - Missense | 19:40237970-40237970, | PATHOGENIC | 0.98757 | 28481359 |
AKT2 | 392 | COSM6983756, | bone | osteosarcoma | p.? | Unknown | 19:40256925-40256925, | PATHOGENIC | 0.98453 | 28481359 |
AKT2 | 392 | COSM6916092, | NS | malignant_melanoma | p.R253W | Substitution - Missense | 19:40238043-40238043, | PATHOGENIC | 0.98442 | 28481359 |
AKT2 | 392 | COSM6934294, | kidney | carcinoma | p.M136V | Substitution - Missense | 19:40242569-40242569, | PATHOGENIC | 0.98428 | 28481359 |
AKT2 | 392 | COSM6934294, | kidney | carcinoma | p.M136V | Substitution - Missense | 19:40242569-40242569, | PATHOGENIC | 0.98428 | 28481359 |
AKT2 | 392 | COSM93894, | lung | carcinoma | p.V90L | Substitution - Missense | 19:40255177-40255177, | PATHOGENIC | 0.98421 | 20668451 |
AKT2 | 392 | COSM6948310, | central_nervous_system | glioma | p.G396E | Substitution - Missense | 19:40235339-40235339, | PATHOGENIC | 0.98308 | 28481359 |
AKT2 | 392 | COSM6925827, | lung | carcinoma | p.W22R | Substitution - Missense | 19:40257037-40257037, | PATHOGENIC | 0.98277 | 28481359 |
AKT2 | 392 | COSM6913734, | central_nervous_system | glioma | p.H406Y | Substitution - Missense | 19:40235310-40235310, | PATHOGENIC | 0.98024 | 28481359 |
AKT2 | 392 | COSM6598020, | central_nervous_system | glioma | p.E85K | Substitution - Missense | 19:40255192-40255192, | PATHOGENIC | 0.97983 | 28481359 |
AKT2 | 392 | COSM159009, | thyroid | carcinoma | p.E17K | Substitution - Missense | 19:40257052-40257052, | PATHOGENIC | 0.97582 | 28481359 |
AKT2 | 392 | COSM159009, | urinary_tract | carcinoma | p.E17K | Substitution - Missense | 19:40257052-40257052, | PATHOGENIC | 0.97582 | 28481359 |
AKT2 | 392 | COSM6951932, | salivary_gland | carcinoma | p.P389L | Substitution - Missense | 19:40235899-40235899, | PATHOGENIC | 0.97232 | 28481359 |
AKT2 | 392 | COSM6912145, | skin | malignant_melanoma | p.S379F | Substitution - Missense | 19:40235929-40235929, | PATHOGENIC | 0.97164 | 28481359 |
AKT2 | 392 | COSM6916414, | prostate | carcinoma | p.P389S | Substitution - Missense | 19:40235900-40235900, | PATHOGENIC | 0.97122 | 28481359 |
AKT2 | 392 | COSM6941944, | NS | malignant_melanoma | p.S432F | Substitution - Missense | 19:40235116-40235116, | PATHOGENIC | 0.96794 | 28481359 |
AKT2 | 392 | COSM6917229, | skin | malignant_melanoma | p.M364I | Substitution - Missense | 19:40235973-40235973, | PATHOGENIC | 0.9653 | 28481359 |
AKT2 | 392 | COSM6970051, | lung | carcinoma | p.T449I | Substitution - Missense | 19:40235065-40235065, | PATHOGENIC | 0.96412 | 28481359 |
AKT2 | 392 | COSM6979193, | breast | carcinoma | p.S474C | Substitution - Missense | 19:40233897-40233897, | PATHOGENIC | 0.96357 | 28481359 |
AKT2 | 392 | COSM6981140, | endometrium | carcinoma | p.V339L | Substitution - Missense | 19:40236050-40236050, | PATHOGENIC | 0.96123 | 28481359 |
AKT2 | 392 | COSM6939672, | large_intestine | carcinoma | p.W333C | Substitution - Missense | 19:40236066-40236066, | PATHOGENIC | 0.96123 | 28481359 |
AKT2 | 392 | COSM6953922, | soft_tissue | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | p.G300D | Substitution - Missense | 19:40236318-40236318, | PATHOGENIC | 0.96006 | 28481359 |
AKT2 | 392 | COSM6964903, | lung | carcinoma | p.W334L | Substitution - Missense | 19:40236064-40236064, | PATHOGENIC | 0.95936 | 28481359 |
AKT2 | 392 | COSM4078160, | large_intestine | carcinoma | p.V57I | Substitution - Missense | 19:40256932-40256932, | PATHOGENIC | 0.95858 | 28481359 |
AKT2 | 392 | COSM4078160, | ovary | carcinoma | p.V57I | Substitution - Missense | 19:40256932-40256932, | PATHOGENIC | 0.95858 | 25846551 |
AKT2 | 392 | COSM4078160, | ovary | carcinoma | p.V57I | Substitution - Missense | 19:40256932-40256932, | PATHOGENIC | 0.95858 | 25846551 |
AKT2 | 392 | COSM4078160, | ovary | carcinoma | p.V57I | Substitution - Missense | 19:40256932-40256932, | PATHOGENIC | 0.95858 | 25846551 |
AKT2 | 392 | COSM4078160, | ovary | carcinoma | p.V57I | Substitution - Missense | 19:40256932-40256932, | PATHOGENIC | 0.95858 | 25846551 |
AKT2 | 392 | COSM4078160, | ovary | carcinoma | p.V57I | Substitution - Missense | 19:40256932-40256932, | PATHOGENIC | 0.95858 | 25846551 |
AKT2 | 392 | COSM4078160, | ovary | carcinoma | p.V57I | Substitution - Missense | 19:40256932-40256932, | PATHOGENIC | 0.95858 | 25846551 |
AKT2 | 392 | COSM4078160, | ovary | carcinoma | p.V57I | Substitution - Missense | 19:40256932-40256932, | PATHOGENIC | 0.95858 | 25846551 |
AKT2 | 392 | COSM6969694, | central_nervous_system | glioma | p.A377T | Substitution - Missense | 19:40235936-40235936, | PATHOGENIC | 0.94335 | 28481359 |
AKT2 | 392 | COSM6951559, | lung | carcinoma | p.K111N | Substitution - Missense | 19:40242642-40242642, | PATHOGENIC | 0.93717 | 28481359 |
AKT2 | 392 | COSM318640, | lung | carcinoma | p.R371L | Substitution - Missense | 19:40235953-40235953, | PATHOGENIC | 0.93355 | 28481359 |
AKT2 | 392 | COSM6933605, | lung | carcinoma | p.S302C | Substitution - Missense | 19:40236313-40236313, | PATHOGENIC | 0.93254 | 28481359 |
AKT2 | 392 | COSM6936839, | oesophagus | carcinoma | p.D457N | Substitution - Missense | 19:40233949-40233949, | PATHOGENIC | 0.92829 | 28481359 |
AKT2 | 392 | COSM1645332, | large_intestine | carcinoma | p.G175S | Substitution - Missense | 19:40241988-40241988, | PATHOGENIC | 0.92786 | 23700467 |
AKT2 | 392 | COSM6964142, | bone | osteosarcoma | p.H13R | Substitution - Missense | 19:40265230-40265230, | PATHOGENIC | 0.92652 | 28481359 |
AKT2 | 392 | COSM268637, | skin | malignant_melanoma | p.R368C | Substitution - Missense | 19:40235963-40235963, | PATHOGENIC | 0.92626 | 28481359 |
AKT2 | 392 | COSM6955711, | large_intestine | carcinoma | p.R480H | Substitution - Missense | 19:40233879-40233879, | PATHOGENIC | 0.92409 | 28481359 |
AKT2 | 392 | COSM6979131, | lung | carcinoma | p.I19M | Substitution - Missense | 19:40257044-40257044, | PATHOGENIC | 0.91462 | 28481359 |
AKT2 | 392 | COSM5021149, | soft_tissue | haemangioblastoma | p.G116A | Substitution - Missense | 19:40242628-40242628, | PATHOGENIC | 0.90767 | 25589003 |
AKT2 | 392 | COSM6941752, | large_intestine | carcinoma | p.R480S | Substitution - Missense | 19:40233880-40233880, | PATHOGENIC | 0.88841 | 28481359 |
AKT2 | 392 | COSM5607752, | skin | malignant_melanoma | p.A377A | Substitution - coding silent | 19:40235934-40235934, | PATHOGENIC | 0.88695 | 26343386 |
AKT2 | 392 | COSM6944551, | lung | carcinoma | p.I276M | Substitution - Missense | 19:40237972-40237972, | PATHOGENIC | 0.87384 | 28481359 |
AKT2 | 392 | COSM6913250, | urinary_tract | carcinoma | p.E95D | Substitution - Missense | 19:40255160-40255160, | PATHOGENIC | 0.87117 | 28481359 |
AKT2 | 392 | COSM6939456, | lung | carcinoma | p.P115L | Substitution - Missense | 19:40242631-40242631, | PATHOGENIC | 0.87022 | 28481359 |
AKT2 | 392 | COSM1481074, | breast | carcinoma | p.I289M | Substitution - Missense | 19:40236350-40236350, | PATHOGENIC | 0.84551 | 28481359 |
AKT2 | 392 | COSM6981260, | breast | carcinoma | p.R176S | Substitution - Missense | 19:40241985-40241985, | PATHOGENIC | 0.78497 | 28481359 |
AKT2 | 392 | COSM6912952, | skin | carcinoma | p.Q419* | Substitution - Nonsense | 19:40235271-40235271, | PATHOGENIC | 0.77255 | 28481359 |
AKT2 | 392 | COSM6974162, | breast | carcinoma | p.E405Q | Substitution - Missense | 19:40235313-40235313, | PATHOGENIC | 0.76646 | 28481359 |
AKT2 | 392 | COSM5607751, | skin | malignant_melanoma | p.S34S | Substitution - coding silent | 19:40256999-40256999, | PATHOGENIC | 0.76034 | 26343386 |
AKT2 | 392 | COSM3225284, | central_nervous_system | glioma | p.R144Q | Substitution - Missense | 19:40242544-40242544, | NEUTRAL | 0.45748 | 28481359 |
AKT2 | 392 | COSM4991295, | skin | carcinoma | p.L204L | Substitution - coding silent | 19:40240072-40240072, | NEUTRAL | 0.3273 | 25589618 |
AKT2 | 392 | COSM6979130, | lung | carcinoma | p.P45S | Substitution - Missense | 19:40256968-40256968, | NEUTRAL | 0.32559 | 28481359 |
AKT2 | 392 | COSM6847983, | pleura | mesothelioma | p.L462P | Substitution - Missense | 19:40233933-40233933, | NEUTRAL | 0.31271 | 26928227 |
AKT2 | 392 | COSM6932082, | central_nervous_system | glioma | p.A143T | Substitution - Missense | 19:40242548-40242548, | NEUTRAL | 0.30867 | 28481359 |
AKT2 | 392 | COSM6950509, | pancreas | carcinoid-endocrine_tumour | p.S398R | Substitution - Missense | 19:40235332-40235332, | NEUTRAL | 0.24614 | 28481359 |
AKT2 | 392 | COSM6950509, | pancreas | carcinoid-endocrine_tumour | p.S398R | Substitution - Missense | 19:40235332-40235332, | NEUTRAL | 0.24614 | 28481359 |
AKT2 | 392 | COSM3225285, | urinary_tract | carcinoma | p.T132M | Substitution - Missense | 19:40242580-40242580, | NEUTRAL | 0.10903 | 28481359 |
AKT2 | 392 | COSM6917889, | NS | carcinoma | p.L462V | Substitution - Missense | 19:40233934-40233934, | NEUTRAL | 0.10461 | 28481359 |
AKT2 | 392 | COSM6983431, | breast, kidney, prostate, skin, urinary_tract | carcinoma, malignant_melanoma | p.I75_R76ins16, p.I84_E85insRCLQWTTVI, p.K387delK, p.L78_Q79ins10, p.L78_Q79ins12, p.R25fs*22, p.S130F, p.T162I | Deletion - In frame, Insertion - Frameshift, Insertion - In frame, Substitution - Missense | 19:40257028-40257029, | Info_not_available | Info_not_available | 28481359 |