lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	2070
Symbol	EYA4
Synonymous	CMD1J\|DFNA10
Full name	EYA transcriptional coactivator and phosphatase 4
Gene description	dJ78N10.1 (eyes absent)\|eyes absent homolog 4
Cytoband	6q23
Gene type	protein-coding
Synonymous	MIM:603550; HGNC:HGNC:3522; Ensembl:ENSG00000112319; HPRD:04648; Vega:OTTHUMG00000015602

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1327G>T; p.G443W; 6:133512766-133512766	bone; humerus	chondrosarcoma	Substitution - Missense
c.875C>T; p.A292V; 6:133468636-133468636	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.653G>A; p.G218D; 6:133462693-133462693	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.511G>T; p.G171W; 6:133462408-133462408	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1021G>T; p.E341*; 6:133481513-133481513	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.948C>T; p.L316L; 6:133468709-133468709	skin	malignant_melanoma	Substitution - coding silent
c.1035G>A; p.R345R; 6:133481527-133481527	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.205G>A; p.G69R; 6:133446751-133446751	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1760G>A; p.R587Q; 6:133525175-133525175	skin	malignant_melanoma	Substitution - Missense
c.1760G>A; p.R587Q; 6:133525175-133525175	skin	malignant_melanoma	Substitution - Missense
c.1025G>C; p.R342T; 6:133481517-133481517	breast	carcinoma	Substitution - Missense
c.1025G>A; p.R342K; 6:133481517-133481517	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.867G>A; p.T289T; 6:133468628-133468628	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.953G>A; p.G318E; 6:133468714-133468714	skin	malignant_melanoma	Substitution - Missense
c.972A>T; p.G324G; 6:133481464-133481464	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.867G>A; p.T289T; 6:133468628-133468628	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1222C>G; p.R408G; 6:133506136-133506136	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1132G>T; p.E378*; 6:133483056-133483056	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.278-1G>C; p.?; 6:133456555-133456555	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1044G>A; p.G348G; 6:133481536-133481536	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1044G>A; p.G348G; 6:133481536-133481536	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.431C>A; p.P144H; 6:133461174-133461174	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1421G>A; p.G474E; 6:133512958-133512958	skin	malignant_melanoma	Substitution - Missense
c.1625G>T; p.C542F; 6:133523064-133523064	pancreas	carcinoma	Substitution - Missense
c.699G>A; p.Q233Q; 6:133462739-133462739	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1882C>A; p.L628M; 6:133528767-133528767	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1502G>A; p.G501E; 6:133515321-133515321	liver	carcinoma	Substitution - Missense
c.1502G>A; p.G501E; 6:133515321-133515321	liver	carcinoma	Substitution - Missense
c.1885G>A; p.A629T; 6:133528770-133528770	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.755A>T; p.Y252F; 6:133464809-133464809	skin	malignant_melanoma	Substitution - Missense
c.39G>T; p.K13N; 6:133382397-133382397	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1422G>A; p.G474G; 6:133512959-133512959	skin	malignant_melanoma	Substitution - coding silent
c.979G>A; p.D327N; 6:133481471-133481471	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.199G>A; p.G67R; 6:133446745-133446745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1754T>A; p.F585Y; 6:133525169-133525169	liver	carcinoma	Substitution - Missense
c.1754T>A; p.F585Y; 6:133525169-133525169	liver	carcinoma	Substitution - Missense
c.350T>C; p.L117P; 6:133456628-133456628	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.872G>A; p.G291E; 6:133468633-133468633	skin	malignant_melanoma	Substitution - Missense
c.872G>A; p.G291E; 6:133468633-133468633	skin	malignant_melanoma	Substitution - Missense
c.1223G>T; p.R408L; 6:133506137-133506137	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1248T>C; p.L416L; 6:133506162-133506162	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.581-1G>C; p.?; 6:133462620-133462620	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.438-2A>T; p.?; 6:133462333-133462333	central_nervous_system; brain	glioma	Unknown
c.812C>A; p.P271Q; 6:133468573-133468573	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1834A>G; p.K612E; 6:133525249-133525249	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.267T>A; p.S89S; 6:133448169-133448169	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.375T>A; p.I125I; 6:133461118-133461118	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.375T>A; p.I125I; 6:133461118-133461118	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1518C>A; p.A506A; 6:133515337-133515337	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1518C>A; p.A506A; 6:133515337-133515337	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.884C>T; p.T295I; 6:133468645-133468645	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1300A>G; p.I434V; 6:133512739-133512739	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.428A>C; p.Y143S; 6:133461171-133461171	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.328G>T; p.A110S; 6:133456606-133456606	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.329C>A; p.A110D; 6:133456607-133456607	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1535T>C; p.L512P; 6:133515354-133515354	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.212delA; p.N72fs*2; 6:133448114-133448114	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.876G>A; p.A292A; 6:133468637-133468637	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.876G>A; p.A292A; 6:133468637-133468637	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1166_1167GG>AA; p.G389E; 6:133483090-133483091	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1167G>A; p.G389G; 6:133483091-133483091	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1897G>T; p.A633S; 6:133528782-133528782	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1231G>T; p.E411*; 6:133506145-133506145	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1231G>T; p.E411*; 6:133506145-133506145	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1058G>A; p.G353E; 6:133481550-133481550	skin	malignant_melanoma	Substitution - Missense
c.454C>G; p.L152V; 6:133462351-133462351	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1561C>A; p.L521M; 6:133515380-133515380	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.385G>C; p.G129R; 6:133461128-133461128	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1393C>T; p.L465F; 6:133512930-133512930	skin	malignant_melanoma	Substitution - Missense
c.385G>C; p.G129R; 6:133461128-133461128	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.141T>C; p.T47T; 6:133446687-133446687	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.223G>T; p.V75F; 6:133448125-133448125	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1769A>T; p.Q590L; 6:133525184-133525184	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.949C>T; p.P317S; 6:133468710-133468710	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1246C>A; p.L416I; 6:133506160-133506160	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.815C>A; p.S272Y; 6:133468576-133468576	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.710C>T; p.S237F; 6:133462750-133462750	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.829G>A; p.G277S; 6:133468590-133468590	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1595C>G; p.S532C; 6:133515414-133515414	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.193A>C; p.T65P; 6:133446739-133446739	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.829G>A; p.G277S; 6:133468590-133468590	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1181A>C; p.K394T; 6:133483105-133483105	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.107C>G; p.A36G; 6:133446653-133446653	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1252G>A; p.D418N; 6:133506166-133506166	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1313C>T; p.S438F; 6:133512752-133512752	skin	malignant_melanoma	Substitution - Missense
c.248T>C; p.L83P; 6:133448150-133448150	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1149T>C; p.F383F; 6:133483073-133483073	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.160G>A; p.E54K; 6:133446706-133446706	skin	malignant_melanoma	Substitution - Missense
c.1626C>A; p.C542*; 6:133523065-133523065	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.887C>T; p.S296L; 6:133468648-133468648	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1306G>A; p.D436N; 6:133512745-133512745	skin	malignant_melanoma	Substitution - Missense
c.1671G>A; p.A557A; 6:133523110-133523110	breast	carcinoma	Substitution - coding silent
c.650G>A; p.S217N; 6:133462690-133462690	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.887C>T; p.S296L; 6:133468648-133468648	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.996C>A; p.P332P; 6:133481488-133481488	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.509C>T; p.S170L; 6:133462406-133462406	skin	malignant_melanoma	Substitution - Missense
c.996C>A; p.P332P; 6:133481488-133481488	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.49A>T; p.T17S; 6:133382407-133382407	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1643C>T; p.T548M; 6:133523082-133523082	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1643C>T; p.T548M; 6:133523082-133523082	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.16G>A; p.D6N; 6:133274796-133274796	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.613G>T; p.E205*; 6:133462653-133462653	soft_tissue; blood_vessel	angiosarcoma	Substitution - Nonsense
c.16G>A; p.D6N; 6:133274796-133274796	skin; trunk	malignant_melanoma	Substitution - Missense
c.484G>A; p.A162T; 6:133462381-133462381	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.790A>G; p.S264G; 6:133464844-133464844	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.720G>T; p.M240I; 6:133462760-133462760	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.648G>A; p.Q216Q; 6:133462688-133462688	skin	malignant_melanoma	Substitution - coding silent
c.566G>T; p.S189I; 6:133462463-133462463	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.961A>G; p.N321D; 6:133468722-133468722	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.961A>G; p.N321D; 6:133468722-133468722	stomach	adenocarcinoma	Substitution - Missense
c.1015C>T; p.L339F; 6:133481507-133481507	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.512G>A; p.G171E; 6:133462409-133462409	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.91G>A; p.E31K; 6:133446637-133446637	skin	malignant_melanoma	Substitution - Missense
c.1615A>G; p.R539G; 6:133515434-133515434	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1709T>C; p.I570T; 6:133523148-133523148	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1776T>A; p.F592L; 6:133525191-133525191	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.211G>A; p.E71K; 6:133448113-133448113	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1324A>G; p.N442D; 6:133512763-133512763	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.455T>C; p.L152P; 6:133462352-133462352	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1912T>A; p.Y638N; 6:133528797-133528797	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.455T>A; p.L152H; 6:133462352-133462352	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.455T>C; p.L152P; 6:133462352-133462352	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.455T>C; p.L152P; 6:133462352-133462352	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.944C>G; p.S315C; 6:133468705-133468705	oesophagus	carcinoma	Substitution - Missense
c.1484A>G; p.Y495C; 6:133513021-133513021	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.863C>T; p.S288L; 6:133468624-133468624	skin	malignant_melanoma	Substitution - Missense
c.242G>A; p.W81*; 6:133448144-133448144	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Nonsense
c.540C>A; p.A180A; 6:133462437-133462437	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.128G>A; p.G43E; 6:133446674-133446674	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.786T>A; p.N262K; 6:133464840-133464840	skin	malignant_melanoma	Substitution - Missense
c.639C>T; p.S213S; 6:133462679-133462679	skin	malignant_melanoma	Substitution - coding silent
c.1525G>A; p.D509N; 6:133515344-133515344	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1287T>G; p.C429W; 6:133512726-133512726	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.298A>C; p.T100P; 6:133456576-133456576	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.88A>G; p.M30V; 6:133446634-133446634	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.88A>G; p.M30V; 6:133446634-133446634	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1079C>T; p.P360L; 6:133481571-133481571	skin	malignant_melanoma	Substitution - Missense
c.1425T>C; p.V475V; 6:133512962-133512962	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.900C>T; p.A300A; 6:133468661-133468661	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.963C>A; p.N321K; 6:133468724-133468724	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1571C>T; p.S524F; 6:133515390-133515390	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1501+2T>C; p.?; 6:133513040-133513040	stomach	carcinoma; adenocarcinoma	Unknown
c.1717A>C; p.I573L; 6:133523156-133523156	skin	malignant_melanoma	Substitution - Missense
c.191C>A; p.T64N; 6:133446737-133446737	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.553G>A; p.G185R; 6:133462450-133462450	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.200G>A; p.G67E; 6:133446746-133446746	skin	malignant_melanoma	Substitution - Missense
c.1273G>A; p.D425N; 6:133506187-133506187	skin	malignant_melanoma	Substitution - Missense
c.1700C>T; p.A567V; 6:133523139-133523139	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.988C>A; p.Q330K; 6:133481480-133481480	thyroid	carcinoma	Substitution - Missense
c.686C>A; p.P229Q; 6:133462726-133462726	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1855T>C; p.W619R; 6:133528740-133528740	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.903T>C; p.D301D; 6:133468664-133468664	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.822A>T; p.T274T; 6:133468583-133468583	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.903T>C; p.D301D; 6:133468664-133468664	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.822A>T; p.T274T; 6:133468583-133468583	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1831G>T; p.A611S; 6:133525246-133525246	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.466G>T; p.A156S; 6:133462363-133462363	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1850C>A; p.P617H; 6:133528735-133528735	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.306C>A; p.P102P; 6:133456584-133456584	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1570T>C; p.S524P; 6:133515389-133515389	stomach	adenocarcinoma	Substitution - Missense
c.63T>A; p.V21V; 6:133382421-133382421	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.306C>A; p.P102P; 6:133456584-133456584	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.240C>T; p.D80D; 6:133448142-133448142	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1519A>G; p.K507E; 6:133515338-133515338	skin	malignant_melanoma	Substitution - Missense
c.1105G>A; p.E369K; 6:133481597-133481597	skin	malignant_melanoma	Substitution - Missense
c.1012G>A; p.D338N; 6:133481504-133481504	skin	malignant_melanoma	Substitution - Missense
c.1393C>A; p.L465I; 6:133512930-133512930	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.134G>A; p.G45D; 6:133446680-133446680	skin	malignant_melanoma	Substitution - Missense
c.152C>T; p.S51F; 6:133446698-133446698	skin	malignant_melanoma	Substitution - Missense
c.619G>C; p.G207R; 6:133462659-133462659	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1739-1G>A; p.?; 6:133525153-133525153	skin	malignant_melanoma	Unknown
c.167C>A; p.S56Y; 6:133446713-133446713	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1175C>A; p.A392E; 6:133483099-133483099	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.811C>G; p.P271A; 6:133468572-133468572	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.340G>A; p.D114N; 6:133456618-133456618	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.100G>A; p.D34N; 6:133446646-133446646	skin	malignant_melanoma	Substitution - Missense
c.455T>G; p.L152R; 6:133462352-133462352	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.455T>G; p.L152R; 6:133462352-133462352	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.696C>T; p.G232G; 6:133462736-133462736	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.455T>G; p.L152R; 6:133462352-133462352	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.329C>T; p.A110V; 6:133456607-133456607	breast	carcinoma	Substitution - Missense
c.1340G>T; p.S447I; 6:133512779-133512779	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1113G>A; p.V371V; 6:133483037-133483037	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.994C>T; p.P332S; 6:133481486-133481486	skin	malignant_melanoma	Substitution - Missense
c.1765A>G; p.M589V; 6:133525180-133525180	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.34-6T>G; p.?; 6:133382386-133382386	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.1414A>C; p.R472R; 6:133512951-133512951	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1765A>G; p.M589V; 6:133525180-133525180	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.48_49CA>TT; p.C16>?; 6:133382406-133382407	lung	carcinoma; adenocarcinoma	Complex
c.1848G>T; p.M616I; 6:133528733-133528733	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1857G>T; p.W619C; 6:133528742-133528742	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.970+1G>T; p.?; 6:133468732-133468732	skin	malignant_melanoma	Unknown
c.662G>A; p.S221N; 6:133462702-133462702	breast	carcinoma	Substitution - Missense
c.1576C>G; p.L526V; 6:133515395-133515395	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1238T>G; p.I413S; 6:133506152-133506152	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.508T>C; p.S170P; 6:133462405-133462405	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1408G>T; p.G470C; 6:133512945-133512945	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.508T>C; p.S170P; 6:133462405-133462405	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.978C>T; p.F326F; 6:133481470-133481470	breast	carcinoma	Substitution - coding silent
c.721C>T; p.P241S; 6:133462761-133462761	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.570G>T; p.L190F; 6:133462467-133462467	breast	carcinoma	Substitution - Missense
c.1231G>A; p.E411K; 6:133506145-133506145	skin	malignant_melanoma	Substitution - Missense
c.901G>A; p.D301N; 6:133468662-133468662	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.901G>A; p.D301N; 6:133468662-133468662	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.901G>A; p.D301N; 6:133468662-133468662	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1109G>A; p.R370H; 6:133483033-133483033	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1231G>A; p.E411K; 6:133506145-133506145	skin	malignant_melanoma	Substitution - Missense
c.880A>T; p.M294L; 6:133468641-133468641	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1758A>G; p.E586E; 6:133525173-133525173	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1620T>C; p.S540S; 6:133523059-133523059	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4G>A; p.E2K; 6:133274784-133274784	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.579C>T; p.Y193Y; 6:133462476-133462476	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.71C>T; p.S24F; 6:133382429-133382429	skin	malignant_melanoma	Substitution - Missense
c.579C>T; p.Y193Y; 6:133462476-133462476	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.781A>C; p.T261P; 6:133464835-133464835	skin	malignant_melanoma	Substitution - Missense
c.678C>T; p.F226F; 6:133462718-133462718	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.454C>A; p.L152I; 6:133462351-133462351	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1670C>T; p.A557V; 6:133523109-133523109	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.454C>A; p.L152I; 6:133462351-133462351	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.454C>A; p.L152I; 6:133462351-133462351	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1670C>T; p.A557V; 6:133523109-133523109	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1670C>T; p.A557V; 6:133523109-133523109	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.332C>T; p.T111M; 6:133456610-133456610	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; desmoplastic	Substitution - Missense
c.1012delG; p.D338fs*66; 6:133481504-133481504	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.528C>T; p.A176A; 6:133462425-133462425	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1108C>T; p.R370C; 6:133483032-133483032	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.137A>T; p.D46V; 6:133446683-133446683	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1694G>A; p.G565E; 6:133523133-133523133	skin	malignant_melanoma	Substitution - Missense
c.1697G>C; p.G566A; 6:133523136-133523136	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1727C>T; p.A576V; 6:133523166-133523166	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.485C>A; p.A162D; 6:133462382-133462382	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1259A>G; p.H420R; 6:133506173-133506173	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1259A>G; p.H420R; 6:133506173-133506173	liver	carcinoma	Substitution - Missense
c.1236G>A; p.M412I; 6:133506150-133506150	skin	malignant_melanoma	Substitution - Missense
c.1236G>A; p.M412I; 6:133506150-133506150	skin	malignant_melanoma	Substitution - Missense
c.1236G>A; p.M412I; 6:133506150-133506150	skin	malignant_melanoma	Substitution - Missense
c.1865C>T; p.S622F; 6:133528750-133528750	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.952G>A; p.G318R; 6:133468713-133468713	skin	malignant_melanoma	Substitution - Missense
c.15G>A; p.Q5Q; 6:133274795-133274795	skin	malignant_melanoma	Substitution - coding silent
c.1140C>A; p.I380I; 6:133483064-133483064	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.804+1G>A; p.?; 6:133464859-133464859	lung	carcinoma; adenocarcinoma	Unknown
c.1191+4A>C; p.?; 6:133483119-133483119	oesophagus	carcinoma; adenocarcinoma	Unknown
c.615G>T; p.E205D; 6:133462655-133462655	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.529G>A; p.V177I; 6:133462426-133462426	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.529G>A; p.V177I; 6:133462426-133462426	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.529G>A; p.V177I; 6:133462426-133462426	prostate	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation