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	2044
Symbol	EPHA5
Synonymous	CEK7\|EHK-1\|EHK1\|EK7\|HEK7\|TYRO4
Full name	EPH receptor A5
Gene description	EPH homology kinase 1\|EPH-like kinase 7\|brain-specific kinase\|ephrin type-A receptor 5\|receptor protein-tyrosine kinase HEK7\|tyrosine-protein kinase receptor EHK-1
Cytoband	4q13.1
Gene type	protein-coding
Synonymous	MIM:600004; HGNC:HGNC:3389; Ensembl:ENSG00000145242; HPRD:02474; Vega:OTTHUMG00000129273

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1987G>T; p.V663F; 4:65365995-65365995	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1782C>T; p.L594L; 4:65404382-65404382	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2335G>T; p.G779C; 4:65351562-65351562	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1782C>T; p.L594L; 4:65404382-65404382	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1403-2A>G; p.?; 4:65420567-65420567	pancreas	carcinoma	Unknown
c.1828T>C; p.C610R; 4:65377026-65377026	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.722C>T; p.A241V; 4:65601829-65601829	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1782C>T; p.L594L; 4:65404382-65404382	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1403-2A>G; p.?; 4:65420567-65420567	pancreas	carcinoma	Unknown
c.1551T>C; p.I517I; 4:65414420-65414420	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2648C>G; p.T883S; 4:65348064-65348064	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1035A>G; p.R345R; 4:65495419-65495419	liver	carcinoma	Substitution - coding silent
c.1031G>T; p.R344M; 4:65495423-65495423	central_nervous_system; brain	glioma	Substitution - Missense
c.1031G>T; p.R344M; 4:65495423-65495423	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2544A>C; p.E848D; 4:65348168-65348168	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2354C>A; p.S785Y; 4:65351543-65351543	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2521C>T; p.P841S; 4:65348191-65348191	NS	malignant_melanoma	Substitution - Missense
c.2260G>C; p.E754Q; 4:65353080-65353080	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2521C>T; p.P841S; 4:65348191-65348191	NS	malignant_melanoma	Substitution - Missense
c.1313C>T; p.T438I; 4:65490466-65490466	oesophagus	carcinoma	Substitution - Missense
c.1494C>A; p.I498I; 4:65420474-65420474	breast	carcinoma	Substitution - coding silent
c.2011G>C; p.E671Q; 4:65365971-65365971	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1551T>G; p.I517M; 4:65414420-65414420	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.645A>T; p.Q215H; 4:65601906-65601906	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1040C>A; p.S347Y; 4:65495414-65495414	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2173G>A; p.A725T; 4:65365080-65365080	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.579G>T; p.M193I; 4:65601972-65601972	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.595G>T; p.V199F; 4:65601956-65601956	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1697C>A; p.S566Y; 4:65404467-65404467	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3084G>T; p.V1028V; 4:65324144-65324144	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2014G>A; p.A672T; 4:65365968-65365968	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.816C>A; p.P272P; 4:65601735-65601735	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1229G>T; p.G410V; 4:65490550-65490550	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1709G>A; p.S570N; 4:65404455-65404455	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2118C>A; p.I706I; 4:65365135-65365135	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1345G>C; p.D449H; 4:65490434-65490434	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1651T>G; p.F551V; 4:65414320-65414320	kidney	other; neoplasm	Substitution - Missense
c.2357C>A; p.A786E; 4:65351540-65351540	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2455T>C; p.F819L; 4:65351442-65351442	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1345G>C; p.D449H; 4:65490434-65490434	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2755C>T; p.R919*; 4:65336029-65336029	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2871A>C; p.A957A; 4:65332110-65332110	ovary	other; neoplasm	Substitution - coding silent
c.1478A>G; p.D493G; 4:65420490-65420490	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.881G>C; p.G294A; 4:65601670-65601670	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1428A>C; p.K476N; 4:65420540-65420540	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2871A>C; p.A957A; 4:65332110-65332110	ovary	other; neoplasm	Substitution - coding silent
c.2026A>G; p.T676A; 4:65365956-65365956	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1897G>T; p.E633*; 4:65367384-65367384	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.2442C>A; p.C814*; 4:65351455-65351455	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1830C>T; p.C610C; 4:65377024-65377024	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1830C>T; p.C610C; 4:65377024-65377024	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.562C>A; p.L188I; 4:65601989-65601989	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1830C>T; p.C610C; 4:65377024-65377024	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.562C>A; p.L188I; 4:65601989-65601989	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2568T>C; p.T856T; 4:65348144-65348144	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2568T>C; p.T856T; 4:65348144-65348144	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1036G>A; p.E346K; 4:65495418-65495418	skin	malignant_melanoma	Substitution - Missense
c.1705C>A; p.Q569K; 4:65404459-65404459	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1891G>A; p.E631K; 4:65367390-65367390	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1257C>T; p.S419S; 4:65490522-65490522	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3111G>C; p.L1037F; 4:65324117-65324117	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2558G>A; p.R853Q; 4:65348154-65348154	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3111G>C; p.L1037F; 4:65324117-65324117	liver	carcinoma	Substitution - Missense
c.2802G>T; p.K934N; 4:65335982-65335982	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1891G>A; p.E631K; 4:65367390-65367390	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1257C>T; p.S419S; 4:65490522-65490522	liver	carcinoma	Substitution - coding silent
c.2558G>A; p.R853Q; 4:65348154-65348154	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1696T>C; p.S566P; 4:65404468-65404468	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.957C>T; p.C319C; 4:65495497-65495497	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.1696T>C; p.S566P; 4:65404468-65404468	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.957C>T; p.C319C; 4:65495497-65495497	pancreas	carcinoma	Substitution - coding silent
c.502G>A; p.E168K; 4:65602049-65602049	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.244G>C; p.G82R; 4:65643365-65643365	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1448A>G; p.N483S; 4:65420520-65420520	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1891G>T; p.E631*; 4:65367390-65367390	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1528-1G>A; p.?; 4:65414444-65414444	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2208C>T; p.I736I; 4:65365045-65365045	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1759G>T; p.A587S; 4:65404405-65404405	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1532A>T; p.Q511L; 4:65414439-65414439	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2179A>T; p.I727F; 4:65365074-65365074	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2179A>T; p.I727F; 4:65365074-65365074	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.861G>T; p.G287G; 4:65601690-65601690	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.385G>T; p.E129*; 4:65602166-65602166	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.2158G>C; p.D720H; 4:65365095-65365095	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1049_1050CC>AA; p.P350Q; 4:65495404-65495405	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1426A>G; p.K476E; 4:65420542-65420542	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1912C>A; p.H638N; 4:65367369-65367369	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.227T>A; p.I76N; 4:65643382-65643382	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2745G>A; p.W915*; 4:65336039-65336039	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.3073G>A; p.E1025K; 4:65324155-65324155	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2445A>G; p.K815K; 4:65351452-65351452	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.504A>G; p.E168E; 4:65602047-65602047	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.1640G>A; p.G547D; 4:65414331-65414331	skin	malignant_melanoma	Substitution - Missense
c.2467C>T; p.R823W; 4:65351430-65351430	pancreas	other; adenoma	Substitution - Missense
c.1791T>C; p.S597S; 4:65377063-65377063	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2467C>T; p.R823W; 4:65351430-65351430	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.834C>T; p.A278A; 4:65601717-65601717	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.834C>T; p.A278A; 4:65601717-65601717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2158G>T; p.D720Y; 4:65365095-65365095	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.77C>T; p.A26V; 4:65669666-65669666	liver	carcinoma	Substitution - Missense
c.77C>T; p.A26V; 4:65669666-65669666	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1153G>A; p.G385R; 4:65490626-65490626	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2298+1G>A; p.?; 4:65353041-65353041	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.554A>G; p.E185G; 4:65601997-65601997	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1646G>T; p.G549V; 4:65414325-65414325	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1894G>A; p.E632K; 4:65367387-65367387	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1829G>T; p.C610F; 4:65377025-65377025	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2958C>T; p.F986F; 4:65332023-65332023	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.338T>A; p.L113H; 4:65602213-65602213	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1924+9A>C; p.?; 4:65367348-65367348	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1995A>T; p.E665D; 4:65365987-65365987	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2136C>A; p.G712G; 4:65365117-65365117	oesophagus	carcinoma	Substitution - coding silent
c.2832G>A; p.T944T; 4:65335952-65335952	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.316G>A; p.E106K; 4:65602235-65602235	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1361C>A; p.A454D; 4:65490418-65490418	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2780A>G; p.E927G; 4:65336004-65336004	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1721T>C; p.V574A; 4:65404443-65404443	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.501G>C; p.K167N; 4:65602050-65602050	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1710C>A; p.S570R; 4:65404454-65404454	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1661G>A; p.R554K; 4:65414310-65414310	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2566A>G; p.T856A; 4:65348146-65348146	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1680C>T; p.T560T; 4:65414291-65414291	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.674C>T; p.S225F; 4:65601877-65601877	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1961A>G; p.H654R; 4:65366021-65366021	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.395T>G; p.F132C; 4:65602156-65602156	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.701C>A; p.P234H; 4:65601850-65601850	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2117T>G; p.I706S; 4:65365136-65365136	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.1362C>A; p.A454A; 4:65490417-65490417	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.220G>T; p.G74*; 4:65643389-65643389	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1169C>G; p.S390*; 4:65490610-65490610	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2702T>A; p.M901K; 4:65336082-65336082	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2992G>A; p.A998T; 4:65331989-65331989	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2992G>A; p.A998T; 4:65331989-65331989	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.826T>A; p.C276S; 4:65601725-65601725	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1113T>C; p.T371T; 4:65490666-65490666	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1053A>G; p.T351T; 4:65495401-65495401	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.172A>C; p.S58R; 4:65669571-65669571	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1467G>A; p.W489*; 4:65420501-65420501	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1467G>A; p.W489*; 4:65420501-65420501	skin; extremity	malignant_melanoma	Substitution - Nonsense
c.1848_1849CC>AG; p.S616_L617>RV; 4:65377005-65377006	lung; middle_lobe	carcinoma; adenocarcinoma	Complex - compound substitution
c.1286T>C; p.V429A; 4:65490493-65490493	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1015G>A; p.E339K; 4:65495439-65495439	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2124C>T; p.T708T; 4:65365129-65365129	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1182A>T; p.A394A; 4:65490597-65490597	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2488G>T; p.E830*; 4:65351409-65351409	endometrium	carcinoma; serous_carcinoma	Substitution - Nonsense
c.2205C>T; p.N735N; 4:65365048-65365048	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1508A>G; p.E503G; 4:65420460-65420460	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.445G>T; p.E149*; 4:65602106-65602106	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1508A>G; p.E503G; 4:65420460-65420460	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1071C>A; p.P357P; 4:65490708-65490708	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.445G>T; p.E149*; 4:65602106-65602106	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.1358G>T; p.G453V; 4:65490421-65490421	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1548G>A; p.T516T; 4:65414423-65414423	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1857-1G>T; p.?; 4:65367425-65367425	lung	carcinoma; adenocarcinoma	Unknown
c.2254G>T; p.V752L; 4:65353086-65353086	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3034C>T; p.L1012F; 4:65324194-65324194	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1295T>G; p.L432R; 4:65490484-65490484	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.977G>A; p.S326N; 4:65495477-65495477	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.1840C>A; p.H614N; 4:65377014-65377014	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2976T>G; p.S992R; 4:65332005-65332005	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1348T>C; p.L450L; 4:65490431-65490431	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1621C>T; p.R541*; 4:65414350-65414350	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2101G>T; p.E701*; 4:65365152-65365152	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1328C>A; p.A443E; 4:65490451-65490451	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1621C>T; p.R541*; 4:65414350-65414350	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2687G>A; p.R896H; 4:65336097-65336097	breast	carcinoma	Substitution - Missense
c.211G>A; p.G71R; 4:65643398-65643398	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2687G>A; p.R896H; 4:65336097-65336097	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1621C>T; p.R541*; 4:65414350-65414350	skin	malignant_melanoma	Substitution - Nonsense
c.1328C>A; p.A443E; 4:65490451-65490451	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2687G>A; p.R896H; 4:65336097-65336097	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2791A>G; p.M931V; 4:65335993-65335993	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.976A>T; p.S326C; 4:65495478-65495478	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.976A>T; p.S326C; 4:65495478-65495478	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2271G>T; p.E757D; 4:65353069-65353069	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1158G>A; p.R386R; 4:65490621-65490621	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1701C>T; p.S567S; 4:65404463-65404463	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2962G>A; p.E988K; 4:65332019-65332019	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1031G>C; p.R344T; 4:65495423-65495423	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1658G>A; p.R553Q; 4:65414313-65414313	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1658G>A; p.R553Q; 4:65414313-65414313	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.103C>A; p.P35T; 4:65669640-65669640	pleura	pulmonary_blastoma	Substitution - Missense
c.3102G>A; p.M1034I; 4:65324126-65324126	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.712C>T; p.R238*; 4:65601839-65601839	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2207T>A; p.I736N; 4:65365046-65365046	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.590C>T; p.T197I; 4:65601961-65601961	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.831C>T; p.S277S; 4:65601720-65601720	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1477G>T; p.D493Y; 4:65420491-65420491	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.801G>T; p.V267V; 4:65601750-65601750	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1419C>T; p.T473T; 4:65420549-65420549	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1074_1075insC; p.S359fs*11; 4:65490704-65490705	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1614C>T; p.F538F; 4:65414357-65414357	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.592G>C; p.E198Q; 4:65601959-65601959	central_nervous_system; brain	glioma	Substitution - Missense
c.592G>C; p.E198Q; 4:65601959-65601959	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.2173G>C; p.A725P; 4:65365080-65365080	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1823C>A; p.S608Y; 4:65377031-65377031	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.183G>T; p.V61V; 4:65643426-65643426	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2429G>T; p.S810I; 4:65351468-65351468	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.183G>T; p.V61V; 4:65643426-65643426	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.449C>T; p.T150I; 4:65602102-65602102	skin	malignant_melanoma	Substitution - Missense
c.992A>C; p.E331A; 4:65495462-65495462	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2545G>A; p.A849T; 4:65348167-65348167	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2764A>T; p.R922W; 4:65336020-65336020	liver	carcinoma	Substitution - Missense
c.2134G>T; p.G712C; 4:65365119-65365119	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.546C>A; p.S182R; 4:65602005-65602005	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2765G>T; p.R922M; 4:65336019-65336019	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3095A>G; p.N1032S; 4:65324133-65324133	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.3095A>G; p.N1032S; 4:65324133-65324133	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.2796G>C; p.L932F; 4:65335988-65335988	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3095A>G; p.N1032S; 4:65324133-65324133	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3095A>G; p.N1032S; 4:65324133-65324133	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3095A>G; p.N1032S; 4:65324133-65324133	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.233T>C; p.F78S; 4:65643376-65643376	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.989A>T; p.E330V; 4:65495465-65495465	liver	carcinoma	Substitution - Missense
c.1937G>A; p.G646E; 4:65366045-65366045	breast	carcinoma	Substitution - Missense
c.364G>T; p.G122C; 4:65602187-65602187	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.435G>C; p.G145G; 4:65602116-65602116	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.683T>C; p.V228A; 4:65601868-65601868	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.989A>T; p.E330V; 4:65495465-65495465	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.989A>T; p.E330V; 4:65495465-65495465	liver	carcinoma	Substitution - Missense
c.2444A>G; p.K815R; 4:65351453-65351453	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1399G>T; p.A467S; 4:65490380-65490380	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2680G>A; p.G894S; 4:65336104-65336104	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3040G>A; p.G1014S; 4:65324188-65324188	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2589T>C; p.S863S; 4:65348123-65348123	liver	carcinoma	Substitution - coding silent
c.2226G>A; p.V742V; 4:65365027-65365027	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2669C>T; p.A890V; 4:65336115-65336115	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2798A>G; p.D933G; 4:65335986-65335986	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.2669C>T; p.A890V; 4:65336115-65336115	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1869C>A; p.Y623*; 4:65367412-65367412	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.541G>T; p.E181*; 4:65602010-65602010	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1862G>A; p.C621Y; 4:65367419-65367419	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1771G>T; p.G591C; 4:65404393-65404393	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.679C>T; p.R227C; 4:65601872-65601872	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.144C>T; p.A48A; 4:65669599-65669599	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.933A>T; p.K311N; 4:65495521-65495521	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1424T>G; p.V475G; 4:65420544-65420544	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1424T>G; p.V475G; 4:65420544-65420544	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1424T>G; p.V475G; 4:65420544-65420544	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2522C>T; p.P841L; 4:65348190-65348190	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2522C>T; p.P841L; 4:65348190-65348190	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.144C>T; p.A48A; 4:65669599-65669599	skin	malignant_melanoma	Substitution - coding silent
c.1424T>G; p.V475G; 4:65420544-65420544	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1424T>G; p.V475G; 4:65420544-65420544	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.841G>T; p.E281*; 4:65601710-65601710	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1424T>G; p.V475G; 4:65420544-65420544	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1424T>G; p.V475G; 4:65420544-65420544	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1424T>G; p.V475G; 4:65420544-65420544	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1424T>G; p.V475G; 4:65420544-65420544	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1680C>A; p.T560T; 4:65414291-65414291	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.458T>A; p.M153K; 4:65602093-65602093	liver	carcinoma	Substitution - Missense
c.1475C>G; p.P492R; 4:65420493-65420493	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1986T>A; p.A662A; 4:65365996-65365996	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2986G>T; p.A996S; 4:65331995-65331995	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.696delA; p.K232fs*36; 4:65601855-65601855	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.887A>T; p.E296V; 4:65601664-65601664	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2305G>A; p.D769N; 4:65351592-65351592	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1202A>G; p.H401R; 4:65490577-65490577	liver	carcinoma	Substitution - Missense
c.1020_1021GG>AA; p.D341N; 4:65495433-65495434	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3100A>G; p.M1034V; 4:65324128-65324128	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2078G>A; p.R693H; 4:65365175-65365175	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1423G>A; p.V475M; 4:65420545-65420545	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2298+4G>A; p.?; 4:65353038-65353038	ovary	other; neoplasm	Unknown
c.2078G>A; p.R693H; 4:65365175-65365175	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2153G>A; p.R718H; 4:65365100-65365100	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2153G>A; p.R718H; 4:65365100-65365100	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2181C>T; p.I727I; 4:65365072-65365072	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1778T>C; p.L593P; 4:65404386-65404386	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2086C>G; p.L696V; 4:65365167-65365167	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1773C>T; p.G591G; 4:65404391-65404391	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1773C>T; p.G591G; 4:65404391-65404391	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2831C>T; p.T944M; 4:65335953-65335953	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1299T>G; p.A433A; 4:65490480-65490480	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3003C>T; p.T1001T; 4:65331978-65331978	skin	malignant_melanoma	Substitution - coding silent
c.702T>A; p.P234P; 4:65601849-65601849	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.702T>A; p.P234P; 4:65601849-65601849	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.804C>T; p.T268T; 4:65601747-65601747	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2771A>G; p.K924R; 4:65336013-65336013	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1639G>A; p.G547S; 4:65414332-65414332	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1745G>A; p.G582E; 4:65404419-65404419	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2987C>T; p.A996V; 4:65331994-65331994	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1745G>A; p.G582E; 4:65404419-65404419	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1745G>A; p.G582E; 4:65404419-65404419	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2987C>T; p.A996V; 4:65331994-65331994	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2987C>T; p.A996V; 4:65331994-65331994	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1331T>A; p.V444E; 4:65490448-65490448	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2843C>T; p.A948V; 4:65335941-65335941	central_nervous_system; brain	glioma	Substitution - Missense
c.1263G>A; p.L421L; 4:65490516-65490516	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.767T>A; p.L256H; 4:65601784-65601784	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1141G>A; p.A381T; 4:65490638-65490638	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.177C>A; p.N59K; 4:65669566-65669566	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2459G>T; p.G820V; 4:65351438-65351438	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1642T>C; p.Y548H; 4:65414329-65414329	kidney	other; neoplasm	Substitution - Missense
c.3019C>T; p.R1007W; 4:65324209-65324209	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1975C>T; p.P659S; 4:65366007-65366007	ovary	other; neoplasm	Substitution - Missense
c.1666G>A; p.E556K; 4:65414305-65414305	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1272C>T; p.T424T; 4:65490507-65490507	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.20G>T; p.R7L; 4:65669723-65669723	pancreas	carcinoma	Substitution - Missense
c.151C>T; p.R51W; 4:65669592-65669592	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.501G>A; p.K167K; 4:65602050-65602050	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2479G>A; p.D827N; 4:65351418-65351418	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.443A>C; p.K148T; 4:65602108-65602108	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2039T>A; p.V680D; 4:65365943-65365943	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1643A>G; p.Y548C; 4:65414328-65414328	liver	carcinoma	Substitution - Missense
c.1755G>T; p.L585F; 4:65404409-65404409	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1560T>G; p.S520S; 4:65414411-65414411	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2949A>G; p.T983T; 4:65332032-65332032	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2755C>A; p.R919R; 4:65336029-65336029	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.30A>G; p.G10G; 4:65669713-65669713	liver	carcinoma	Substitution - coding silent
c.1959A>C; p.P653P; 4:65366023-65366023	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1260C>A; p.G420G; 4:65490519-65490519	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.394T>C; p.F132L; 4:65602157-65602157	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1495A>G; p.I499V; 4:65420473-65420473	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1348T>G; p.L450V; 4:65490431-65490431	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1348T>G; p.L450V; 4:65490431-65490431	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1385T>A; p.V462E; 4:65490394-65490394	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2352C>A; p.I784I; 4:65351545-65351545	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2515A>G; p.K839E; 4:65348197-65348197	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2643G>A; p.E881E; 4:65348069-65348069	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2216T>C; p.L739S; 4:65365037-65365037	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2192T>A; p.F731Y; 4:65365061-65365061	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.329A>G; p.N110S; 4:65602222-65602222	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2874A>G; p.E958E; 4:65332107-65332107	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2888G>A; p.G963E; 4:65332093-65332093	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3106C>G; p.P1036A; 4:65324122-65324122	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2531G>C; p.W844S; 4:65348181-65348181	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1137G>T; p.P379P; 4:65490642-65490642	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3056T>A; p.I1019N; 4:65324172-65324172	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2535T>A; p.T845T; 4:65348177-65348177	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2733G>A; p.M911I; 4:65336051-65336051	breast	carcinoma	Substitution - Missense
c.1261C>A; p.L421M; 4:65490518-65490518	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.392A>C; p.K131T; 4:65602159-65602159	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.624_625GG>CT; p.K208_G209>N*; 4:65601926-65601927	lung	carcinoma; adenocarcinoma	Complex - compound substitution
c.39G>C; p.R13R; 4:65669704-65669704	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.35G>A; p.R12Q; 4:65669708-65669708	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2506A>C; p.R836R; 4:65351391-65351391	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1809T>G; p.C603W; 4:65377045-65377045	stomach	carcinoma	Substitution - Missense
c.2347G>C; p.G783R; 4:65351550-65351550	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.177C>T; p.N59N; 4:65669566-65669566	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.886G>A; p.E296K; 4:65601665-65601665	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3020G>A; p.R1007Q; 4:65324208-65324208	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.115C>G; p.P39A; 4:65669628-65669628	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2984A>C; p.D995A; 4:65331997-65331997	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1583A>T; p.E528V; 4:65414388-65414388	kidney	other; neoplasm	Substitution - Missense
c.1972G>T; p.D658Y; 4:65366010-65366010	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.324T>A; p.N108K; 4:65602227-65602227	liver	carcinoma	Substitution - Missense
c.110G>A; p.R37Q; 4:65669633-65669633	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2316C>T; p.F772F; 4:65351581-65351581	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.324T>A; p.N108K; 4:65602227-65602227	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.324T>A; p.N108K; 4:65602227-65602227	liver	carcinoma	Substitution - Missense
c.1929A>C; p.K643N; 4:65366053-65366053	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.455A>T; p.N152I; 4:65602096-65602096	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.976A>G; p.S326G; 4:65495478-65495478	central_nervous_system; brain	glioma	Substitution - Missense
c.902C>A; p.T301N; 4:65601649-65601649	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1258G>A; p.G420S; 4:65490521-65490521	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2487C>A; p.P829P; 4:65351410-65351410	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2194G>C; p.D732H; 4:65365059-65365059	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2567C>T; p.T856I; 4:65348145-65348145	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2567C>T; p.T856I; 4:65348145-65348145	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.197C>T; p.S66L; 4:65643412-65643412	skin	malignant_melanoma	Substitution - Missense
c.1687+1G>C; p.?; 4:65414283-65414283	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1820C>T; p.S607F; 4:65377034-65377034	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3103G>C; p.V1035L; 4:65324125-65324125	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1749C>A; p.V583V; 4:65404415-65404415	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2156G>T; p.R719I; 4:65365097-65365097	NS	NS	Substitution - Missense
c.2422A>C; p.I808L; 4:65351475-65351475	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2582T>C; p.V861A; 4:65348130-65348130	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1744G>A; p.G582R; 4:65404420-65404420	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.835G>A; p.E279K; 4:65601716-65601716	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.835G>A; p.E279K; 4:65601716-65601716	breast	carcinoma	Substitution - Missense
c.1702G>A; p.D568N; 4:65404462-65404462	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1702G>A; p.D568N; 4:65404462-65404462	pancreas	carcinoma	Substitution - Missense
c.1702G>A; p.D568N; 4:65404462-65404462	pancreas	carcinoma	Substitution - Missense
c.768C>T; p.L256L; 4:65601783-65601783	pancreas	carcinoma	Substitution - coding silent
c.835G>A; p.E279K; 4:65601716-65601716	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2609A>G; p.E870G; 4:65348103-65348103	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2177G>C; p.S726T; 4:65365076-65365076	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1291C>A; p.L431I; 4:65490488-65490488	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2152C>T; p.R718C; 4:65365101-65365101	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2023A>G; p.I675V; 4:65365959-65365959	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1191G>C; p.K397N; 4:65490588-65490588	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1758G>T; p.L586F; 4:65404406-65404406	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.785G>T; p.C262F; 4:65601766-65601766	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.785G>T; p.C262F; 4:65601766-65601766	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1539C>T; p.T513T; 4:65414432-65414432	skin	malignant_melanoma	Substitution - coding silent
c.1225G>T; p.G409C; 4:65490554-65490554	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2903G>T; p.R968I; 4:65332078-65332078	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.553G>T; p.E185*; 4:65601998-65601998	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1237A>G; p.R413G; 4:65490542-65490542	liver	carcinoma	Substitution - Missense
c.2966A>T; p.N989I; 4:65332015-65332015	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1507G>A; p.E503K; 4:65420461-65420461	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.1507G>A; p.E503K; 4:65420461-65420461	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.2679A>C; p.E893D; 4:65336105-65336105	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3053A>T; p.K1018M; 4:65324175-65324175	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.66C>A; p.P22P; 4:65669677-65669677	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2574C>A; p.A858A; 4:65348138-65348138	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.991G>A; p.E331K; 4:65495463-65495463	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.579G>C; p.M193I; 4:65601972-65601972	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2531G>T; p.W844L; 4:65348181-65348181	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1070C>A; p.P357H; 4:65490709-65490709	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2531G>T; p.W844L; 4:65348181-65348181	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.422C>T; p.P141L; 4:65602129-65602129	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.210_211GG>AT; p.M70_G71>IW; 4:65643398-65643399	lung; right_upper_lobe	carcinoma; adenocarcinoma	Complex - compound substitution
c.1543T>A; p.Y515N; 4:65414428-65414428	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3048G>A; p.Q1016Q; 4:65324180-65324180	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1791-3C>T; p.?; 4:65377066-65377066	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2891C>A; p.S964Y; 4:65332090-65332090	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.995_996insT; p.S333fs*7; 4:65495458-65495459	ovary	carcinoma	Insertion - Frameshift
c.2428A>G; p.S810G; 4:65351469-65351469	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3048G>A; p.Q1016Q; 4:65324180-65324180	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1152T>G; p.G384G; 4:65490627-65490627	breast	carcinoma	Substitution - coding silent
c.487G>A; p.G163R; 4:65602064-65602064	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.861G>A; p.G287G; 4:65601690-65601690	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1962T>C; p.H654H; 4:65366020-65366020	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2526C>G; p.I842M; 4:65348186-65348186	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.699C>T; p.C233C; 4:65601852-65601852	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2510G>A; p.G837E; 4:65348202-65348202	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.699C>T; p.C233C; 4:65601852-65601852	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3020G>T; p.R1007L; 4:65324208-65324208	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1297G>A; p.A433T; 4:65490482-65490482	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3020G>T; p.R1007L; 4:65324208-65324208	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1297G>A; p.A433T; 4:65490482-65490482	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2188C>A; p.Q730K; 4:65365065-65365065	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2509-3delT; p.?; 4:65348206-65348206	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.859G>A; p.G287R; 4:65601692-65601692	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.625G>T; p.G209*; 4:65601926-65601926	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2348G>C; p.G783A; 4:65351549-65351549	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1130_1131GG>TA; p.W377L; 4:65490648-65490649	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1136C>A; p.P379Q; 4:65490643-65490643	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.403C>T; p.R135W; 4:65602148-65602148	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.403C>T; p.R135W; 4:65602148-65602148	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1827G>T; p.L609L; 4:65377027-65377027	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2985C>T; p.D995D; 4:65331996-65331996	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2093G>A; p.G698E; 4:65365160-65365160	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.858C>G; p.I286M; 4:65601693-65601693	breast	carcinoma	Substitution - Missense
c.1827G>T; p.L609L; 4:65377027-65377027	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2093G>A; p.G698E; 4:65365160-65365160	skin	malignant_melanoma	Substitution - Missense
c.2113G>T; p.A705S; 4:65365140-65365140	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1856+1G>T; p.?; 4:65376997-65376997	lung	carcinoma; adenocarcinoma	Unknown
c.203C>A; p.T68N; 4:65643406-65643406	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.391A>G; p.K131E; 4:65602160-65602160	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.391A>G; p.K131E; 4:65602160-65602160	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.265G>A; p.V89M; 4:65602286-65602286	breast	carcinoma	Substitution - Missense
c.391A>G; p.K131E; 4:65602160-65602160	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1197C>T; p.N399N; 4:65490582-65490582	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.410G>T; p.C137F; 4:65602141-65602141	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2756G>A; p.R919Q; 4:65336028-65336028	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3023T>C; p.L1008P; 4:65324205-65324205	breast	carcinoma	Substitution - Missense
c.2345G>T; p.R782I; 4:65351552-65351552	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.143C>T; p.A48V; 4:65669600-65669600	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3097G>A; p.G1033R; 4:65324131-65324131	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3097G>A; p.G1033R; 4:65324131-65324131	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2719C>G; p.L907V; 4:65336065-65336065	oesophagus	carcinoma	Substitution - Missense
c.1235T>A; p.V412D; 4:65490544-65490544	breast	carcinoma	Substitution - Missense
c.3097G>A; p.G1033R; 4:65324131-65324131	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.575T>C; p.V192A; 4:65601976-65601976	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2020T>C; p.C674R; 4:65365962-65365962	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2098delA; p.R700fs*12; 4:65365155-65365155	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2032G>T; p.E678*; 4:65365950-65365950	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1631C>G; p.T544R; 4:65414340-65414340	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.357C>A; p.S119S; 4:65602194-65602194	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.497T>A; p.I166N; 4:65602054-65602054	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1023T>A; p.D341E; 4:65495431-65495431	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1023T>A; p.D341E; 4:65495431-65495431	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.772G>A; p.V258M; 4:65601779-65601779	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2853-1G>A; p.?; 4:65332129-65332129	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1118T>C; p.V373A; 4:65490661-65490661	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1915A>T; p.N639Y; 4:65367366-65367366	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.527C>T; p.T176I; 4:65602024-65602024	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1217A>T; p.E406V; 4:65490562-65490562	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2115T>C; p.A705A; 4:65365138-65365138	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.356C>A; p.S119Y; 4:65602195-65602195	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1062C>T; p.C354C; 4:65495392-65495392	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2380A>T; p.M794L; 4:65351517-65351517	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1515G>T; p.K505N; 4:65420453-65420453	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1601C>T; p.S534L; 4:65414370-65414370	skin	malignant_melanoma	Substitution - Missense
c.1057G>A; p.A353T; 4:65495397-65495397	large_intestine; colon	NS	Substitution - Missense
c.699C>A; p.C233*; 4:65601852-65601852	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1936G>T; p.G646*; 4:65366046-65366046	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.40C>A; p.P14T; 4:65669703-65669703	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2261A>T; p.E754V; 4:65353079-65353079	pancreas	carcinoma	Substitution - Missense
c.1428A>G; p.K476K; 4:65420540-65420540	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1528-10G>A; p.?; 4:65414453-65414453	stomach	carcinoma; adenocarcinoma	Unknown
c.1418C>T; p.T473I; 4:65420550-65420550	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1528-10G>A; p.?; 4:65414453-65414453	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.965G>A; p.C322Y; 4:65495489-65495489	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.150C>A; p.L50L; 4:65669593-65669593	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.746G>T; p.G249V; 4:65601805-65601805	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2060G>A; p.G687D; 4:65365193-65365193	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1993G>T; p.E665*; 4:65365989-65365989	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2060G>A; p.G687D; 4:65365193-65365193	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.993A>C; p.E331D; 4:65495461-65495461	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.698G>C; p.C233S; 4:65601853-65601853	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2771A>C; p.K924T; 4:65336013-65336013	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1205C>A; p.A402E; 4:65490574-65490574	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2659-1G>T; p.?; 4:65336126-65336126	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2942G>T; p.R981L; 4:65332039-65332039	stomach	carcinoma	Substitution - Missense
c.2771A>C; p.K924T; 4:65336013-65336013	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2960T>A; p.M987K; 4:65332021-65332021	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.594G>A; p.E198E; 4:65601957-65601957	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.965G>T; p.C322F; 4:65495489-65495489	kidney	Wilms_tumour	Substitution - Missense
c.426A>C; p.G142G; 4:65602125-65602125	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1114A>C; p.S372R; 4:65490665-65490665	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1920G>C; p.G640G; 4:65367361-65367361	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.560A>T; p.D187V; 4:65601991-65601991	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1250G>A; p.R417Q; 4:65490529-65490529	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1250G>A; p.R417Q; 4:65490529-65490529	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2941C>T; p.R981W; 4:65332040-65332040	breast	carcinoma	Substitution - Missense
c.2347G>A; p.G783S; 4:65351550-65351550	liver	carcinoma	Substitution - Missense
c.1746A>T; p.G582G; 4:65404418-65404418	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2347G>A; p.G783S; 4:65351550-65351550	liver	carcinoma	Substitution - Missense
c.579G>A; p.M193I; 4:65601972-65601972	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2130A>C; p.K710N; 4:65365123-65365123	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2062G>A; p.E688K; 4:65365191-65365191	oesophagus	carcinoma	Substitution - Missense
c.109C>T; p.R37W; 4:65669634-65669634	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1798G>A; p.E600K; 4:65377056-65377056	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.433G>A; p.G145R; 4:65602118-65602118	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.565G>A; p.G189S; 4:65601986-65601986	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2236+1G>T; p.?; 4:65365016-65365016	liver	carcinoma	Unknown
c.851T>G; p.V284G; 4:65601700-65601700	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1910T>C; p.F637S; 4:65367371-65367371	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.851T>G; p.V284G; 4:65601700-65601700	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.851T>G; p.V284G; 4:65601700-65601700	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2236+1G>T; p.?; 4:65365016-65365016	liver	carcinoma	Unknown
c.851T>G; p.V284G; 4:65601700-65601700	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2633C>A; p.P878H; 4:65348079-65348079	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2796G>T; p.L932F; 4:65335988-65335988	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1819T>A; p.S607T; 4:65377035-65377035	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.844T>C; p.W282R; 4:65601707-65601707	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2049A>G; p.A683A; 4:65365933-65365933	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1923C>G; p.H641Q; 4:65367358-65367358	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2628G>T; p.E876D; 4:65348084-65348084	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1639G>T; p.G547C; 4:65414332-65414332	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.571C>A; p.R191S; 4:65601980-65601980	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1731G>T; p.V577V; 4:65404433-65404433	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.571C>A; p.R191S; 4:65601980-65601980	skin	malignant_melanoma	Substitution - Missense
c.571C>A; p.R191S; 4:65601980-65601980	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1251G>A; p.R417R; 4:65490528-65490528	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.571C>A; p.R191S; 4:65601980-65601980	lung	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation