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	2045
Symbol	EPHA7
Synonymous	EHK-3\|EHK3\|EK11\|HEK11
Full name	EPH receptor A7
Gene description	EPH homology kinase 3\|EPH-like kinase 11\|Eph homology kinase-3\|ephrin type-A receptor 7\|receptor protein-tyrosine kinase HEK11\|tyrosine-protein kinase receptor EHK-3
Cytoband	6q16.1
Gene type	protein-coding
Synonymous	MIM:602190; HGNC:HGNC:3390; Ensembl:ENSG00000135333; HPRD:03721; Vega:OTTHUMG00000015228

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1539C>T; p.F513F; 6:93269571-93269571	skin	malignant_melanoma	Substitution - coding silent
c.2151A>G; p.G717G; 6:93257483-93257483	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2561G>A; p.R854H; 6:93246957-93246957	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2427G>T; p.Q809H; 6:93254752-93254752	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2782G>T; p.V928F; 6:93245398-93245398	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2184G>A; p.G728G; 6:93256026-93256026	skin	malignant_melanoma	Substitution - coding silent
c.2560C>T; p.R854C; 6:93246958-93246958	skin	malignant_melanoma	Substitution - Missense
c.2560C>T; p.R854C; 6:93246958-93246958	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.363A>G; p.E121E; 6:93410970-93410970	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2560C>T; p.R854C; 6:93246958-93246958	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.924C>T; p.S308S; 6:93358320-93358320	skin	malignant_melanoma	Substitution - coding silent
c.2761G>A; p.D921N; 6:93245419-93245419	skin	malignant_melanoma	Substitution - Missense
c.2630G>A; p.R877H; 6:93246888-93246888	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1510A>G; p.N504D; 6:93269600-93269600	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1510A>G; p.N504D; 6:93269600-93269600	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.579A>T; p.I193I; 6:93410754-93410754	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2668C>G; p.L890V; 6:93246850-93246850	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1776C>T; p.G592G; 6:93263882-93263882	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.1776C>T; p.G592G; 6:93263882-93263882	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1776C>T; p.G592G; 6:93263882-93263882	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2398G>T; p.V800L; 6:93254781-93254781	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2638A>G; p.R880G; 6:93246880-93246880	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2638A>G; p.R880G; 6:93246880-93246880	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1276C>T; p.R426*; 6:93356765-93356765	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.923C>A; p.S308Y; 6:93358321-93358321	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1276C>T; p.R426*; 6:93356765-93356765	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1877A>T; p.K626M; 6:93259401-93259401	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1136G>C; p.C379S; 6:93356905-93356905	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2671G>T; p.D891Y; 6:93246847-93246847	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.262A>T; p.N88Y; 6:93411071-93411071	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1327C>T; p.P443S; 6:93272420-93272420	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2176C>A; p.H726N; 6:93256034-93256034	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1737G>A; p.G579G; 6:93264599-93264599	skin	malignant_melanoma	Substitution - coding silent
c.745C>T; p.H249Y; 6:93410588-93410588	liver	carcinoma	Substitution - Missense
c.745C>T; p.H249Y; 6:93410588-93410588	liver	carcinoma	Substitution - Missense
c.467C>A; p.T156N; 6:93410866-93410866	bone; pelvis	chondrosarcoma	Substitution - Missense
c.2415C>T; p.P805P; 6:93254764-93254764	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2359C>T; p.P787S; 6:93255851-93255851	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.418G>A; p.E140K; 6:93410915-93410915	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1898T>A; p.I633N; 6:93259380-93259380	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.1328C>T; p.P443L; 6:93272419-93272419	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Substitution - Missense
c.2286C>A; p.R762R; 6:93255924-93255924	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.291G>A; p.R97R; 6:93411042-93411042	skin	malignant_melanoma	Substitution - coding silent
c.976G>A; p.V326I; 6:93358268-93358268	liver	carcinoma	Substitution - Missense
c.291G>A; p.R97R; 6:93411042-93411042	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1194C>A; p.N398K; 6:93356847-93356847	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.404G>A; p.G135D; 6:93410929-93410929	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1622A>G; p.K541R; 6:93269488-93269488	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1416C>T; p.V472V; 6:93272331-93272331	skin	malignant_melanoma	Substitution - coding silent
c.1277G>T; p.R426L; 6:93356764-93356764	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.841C>A; p.R281S; 6:93358403-93358403	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.841C>A; p.R281S; 6:93358403-93358403	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2688delC; p.P897fs*4; 6:93246830-93246830	lung	carcinoma; large_cell_carcinoma	Deletion - Frameshift
c.1519C>T; p.P507S; 6:93269591-93269591	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2379T>A; p.T793T; 6:93255831-93255831	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1377C>T; p.V459V; 6:93272370-93272370	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.312C>T; p.F104F; 6:93411021-93411021	skin	malignant_melanoma	Substitution - coding silent
c.694G>A; p.G232R; 6:93410639-93410639	skin	malignant_melanoma	Substitution - Missense
c.694G>A; p.G232R; 6:93410639-93410639	skin	malignant_melanoma	Substitution - Missense
c.1742+1G>T; p.?; 6:93264593-93264593	ovary	other; neoplasm	Unknown
c.361G>A; p.E121K; 6:93410972-93410972	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2630G>T; p.R877L; 6:93246888-93246888	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.836G>T; p.C279F; 6:93358408-93358408	breast	carcinoma	Substitution - Missense
c.89C>T; p.A30V; 6:93419253-93419253	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2498G>A; p.G833E; 6:93254681-93254681	skin	malignant_melanoma	Substitution - Missense
c.2766C>A; p.F922L; 6:93245414-93245414	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.550C>T; p.L184F; 6:93410783-93410783	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2110+2T>G; p.?; 6:93258097-93258097	prostate	carcinoma	Unknown
c.296T>C; p.F99S; 6:93411037-93411037	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.871C>A; p.L291I; 6:93358373-93358373	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.109G>C; p.D37H; 6:93414756-93414756	oesophagus	carcinoma	Substitution - Missense
c.336T>C; p.L112L; 6:93410997-93410997	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1624A>T; p.M542L; 6:93269486-93269486	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1267G>A; p.D423N; 6:93356774-93356774	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.497A>G; p.K166R; 6:93410836-93410836	oesophagus	carcinoma	Substitution - Missense
c.2439C>T; p.F813F; 6:93254740-93254740	liver	carcinoma	Substitution - coding silent
c.970C>T; p.P324S; 6:93358274-93358274	skin	malignant_melanoma	Substitution - Missense
c.2683C>G; p.R895G; 6:93246835-93246835	liver	carcinoma	Substitution - Missense
c.2326G>A; p.D776N; 6:93255884-93255884	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2683C>G; p.R895G; 6:93246835-93246835	breast	carcinoma	Substitution - Missense
c.2439C>T; p.F813F; 6:93254740-93254740	liver	carcinoma	Substitution - coding silent
c.1423G>T; p.E475*; 6:93272324-93272324	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.619T>C; p.S207P; 6:93410714-93410714	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1872C>T; p.F624F; 6:93259406-93259406	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.564T>C; p.D188D; 6:93410769-93410769	liver	carcinoma	Substitution - coding silent
c.2434A>T; p.K812*; 6:93254745-93254745	liver	carcinoma	Substitution - Nonsense
c.2434A>T; p.K812*; 6:93254745-93254745	liver	carcinoma	Substitution - Nonsense
c.2378C>T; p.T793I; 6:93255832-93255832	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1872C>T; p.F624F; 6:93259406-93259406	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.206G>A; p.R69Q; 6:93411127-93411127	skin	malignant_melanoma	Substitution - Missense
c.850T>C; p.Y284H; 6:93358394-93358394	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1393G>A; p.E465K; 6:93272354-93272354	skin	malignant_melanoma	Substitution - Missense
c.206G>A; p.R69Q; 6:93411127-93411127	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1393G>A; p.E465K; 6:93272354-93272354	skin	malignant_melanoma	Substitution - Missense
c.206G>A; p.R69Q; 6:93411127-93411127	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.126_129delAACA; p.T43fs*57; 6:93414736-93414739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.2596C>T; p.H866Y; 6:93246922-93246922	skin	malignant_melanoma	Substitution - Missense
c.1815C>G; p.T605T; 6:93259463-93259463	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1909C>G; p.R637G; 6:93259369-93259369	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1132G>A; p.E378K; 6:93356909-93356909	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Missense
c.2979A>T; p.G993G; 6:93243444-93243444	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2342G>A; p.R781Q; 6:93255868-93255868	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2086C>A; p.H696N; 6:93258123-93258123	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.241C>T; p.Q81*; 6:93411092-93411092	skin	malignant_melanoma	Substitution - Nonsense
c.695G>T; p.G232V; 6:93410638-93410638	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2086C>A; p.H696N; 6:93258123-93258123	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.816delA; p.G273fs*75; 6:93410517-93410517	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.326G>T; p.C109F; 6:93411007-93411007	pancreas	NS	Substitution - Missense
c.2690C>T; p.P897L; 6:93246828-93246828	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2386G>A; p.G796R; 6:93254793-93254793	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9delT; p.Q4fs*97; 6:93419333-93419333	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1111_1112ins10; p.E375fs*14; 6:93356929-93356930	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Insertion - Frameshift
c.1464G>A; p.R488R; 6:93269646-93269646	skin	malignant_melanoma	Substitution - coding silent
c.408G>A; p.R136R; 6:93410925-93410925	skin	malignant_melanoma	Substitution - coding silent
c.818_832+5del20; p.?; 6:93410496-93410515	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.408G>A; p.R136R; 6:93410925-93410925	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.890C>T; p.P297L; 6:93358354-93358354	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1854T>C; p.N618N; 6:93259424-93259424	pancreas	carcinoma	Substitution - coding silent
c.2403G>T; p.R801S; 6:93254776-93254776	meninges	meningioma; haemangiopericytic	Substitution - Missense
c.2284C>T; p.R762C; 6:93255926-93255926	skin	malignant_melanoma	Substitution - Missense
c.2484A>T; p.E828D; 6:93254695-93254695	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1854T>C; p.N618N; 6:93259424-93259424	pancreas	carcinoma	Substitution - coding silent
c.2900G>T; p.G967V; 6:93243523-93243523	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.531G>C; p.L177F; 6:93410802-93410802	liver	carcinoma	Substitution - Missense
c.1715T>C; p.M572T; 6:93264621-93264621	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.74G>A; p.G25E; 6:93419268-93419268	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.562G>A; p.D188N; 6:93410771-93410771	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.531G>C; p.L177F; 6:93410802-93410802	liver	carcinoma	Substitution - Missense
c.531G>C; p.L177F; 6:93410802-93410802	liver	carcinoma	Substitution - Missense
c.531G>C; p.L177F; 6:93410802-93410802	liver	carcinoma	Substitution - Missense
c.1472C>G; p.S491*; 6:93269638-93269638	breast	carcinoma	Substitution - Nonsense
c.1879G>A; p.E627K; 6:93259399-93259399	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2447C>T; p.A816V; 6:93254732-93254732	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.2708C>T; p.P903L; 6:93246810-93246810	skin	malignant_melanoma	Substitution - Missense
c.2961A>C; p.Q987H; 6:93243462-93243462	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.477_478CC>AA; p.D159_L160>EI; 6:93410855-93410856	lung	carcinoma; adenocarcinoma	Complex - compound substitution
c.1124A>G; p.E375G; 6:93356917-93356917	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2213T>C; p.M738T; 6:93255997-93255997	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2679G>A; p.M893I; 6:93246839-93246839	skin	malignant_melanoma	Substitution - Missense
c.451G>A; p.A151T; 6:93410882-93410882	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1845G>T; p.E615D; 6:93259433-93259433	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.324T>C; p.D108D; 6:93411009-93411009	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1551T>C; p.A517A; 6:93269559-93269559	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1551T>C; p.A517A; 6:93269559-93269559	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.617G>T; p.W206L; 6:93410716-93410716	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.41G>T; p.C14F; 6:93419301-93419301	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1699A>G; p.I567V; 6:93264637-93264637	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.726G>A; p.A242A; 6:93410607-93410607	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1932C>T; p.F644F; 6:93258277-93258277	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1932C>T; p.F644F; 6:93258277-93258277	skin	malignant_melanoma	Substitution - coding silent
c.1932C>T; p.F644F; 6:93258277-93258277	breast	carcinoma	Substitution - coding silent
c.391G>C; p.D131H; 6:93410942-93410942	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.391G>C; p.D131H; 6:93410942-93410942	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.803G>T; p.G268V; 6:93410530-93410530	liver	carcinoma	Substitution - Missense
c.2530G>C; p.D844H; 6:93254649-93254649	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1074G>A; p.G358G; 6:93356967-93356967	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1373G>T; p.S458I; 6:93272374-93272374	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2145A>T; p.E715D; 6:93257489-93257489	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.267G>T; p.W89C; 6:93411066-93411066	liver	carcinoma	Substitution - Missense
c.2027G>T; p.R676M; 6:93258182-93258182	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2618G>T; p.W873L; 6:93246900-93246900	skin	malignant_melanoma	Substitution - Missense
c.656T>C; p.V219A; 6:93410677-93410677	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2179G>A; p.D727N; 6:93256031-93256031	skin	malignant_melanoma	Substitution - Missense
c.350G>A; p.G117E; 6:93410983-93410983	skin	malignant_melanoma	Substitution - Missense
c.283G>A; p.A95T; 6:93411050-93411050	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.599T>A; p.V200E; 6:93410734-93410734	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2684G>A; p.R895Q; 6:93246834-93246834	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.295T>C; p.F99L; 6:93411038-93411038	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2124G>T; p.M708I; 6:93257510-93257510	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2853C>A; p.S951S; 6:93245327-93245327	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1550C>A; p.A517D; 6:93269560-93269560	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2149G>A; p.G717R; 6:93257485-93257485	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2984G>A; p.G995D; 6:93243439-93243439	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.691C>T; p.R231*; 6:93410642-93410642	skin	malignant_melanoma	Substitution - Nonsense
c.2989C>T; p.Q997*; 6:93243434-93243434	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.691C>T; p.R231*; 6:93410642-93410642	skin	malignant_melanoma	Substitution - Nonsense
c.1130G>T; p.G377V; 6:93356911-93356911	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1378G>A; p.E460K; 6:93272369-93272369	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1378G>A; p.E460K; 6:93272369-93272369	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2707C>T; p.P903S; 6:93246811-93246811	skin	malignant_melanoma	Substitution - Missense
c.2639G>T; p.R880M; 6:93246879-93246879	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2707C>T; p.P903S; 6:93246811-93246811	skin	malignant_melanoma	Substitution - Missense
c.2707C>T; p.P903S; 6:93246811-93246811	skin	malignant_melanoma	Substitution - Missense
c.691C>T; p.R231*; 6:93410642-93410642	skin	malignant_melanoma	Substitution - Nonsense
c.2499A>T; p.G833G; 6:93254680-93254680	skin	malignant_melanoma	Substitution - coding silent
c.2230G>A; p.A744T; 6:93255980-93255980	bone; ilium	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2740C>G; p.L914V; 6:93245440-93245440	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1406C>G; p.P469R; 6:93272341-93272341	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1406C>G; p.P469R; 6:93272341-93272341	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.256C>T; p.R86W; 6:93411077-93411077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2766C>T; p.F922F; 6:93245414-93245414	skin	malignant_melanoma	Substitution - coding silent
c.580G>C; p.A194P; 6:93410753-93410753	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.484G>T; p.E162*; 6:93410849-93410849	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1802A>C; p.K601T; 6:93259476-93259476	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2452G>A; p.D818N; 6:93254727-93254727	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1977T>C; p.D659D; 6:93258232-93258232	pancreas	carcinoma	Substitution - coding silent
c.2790A>T; p.E930D; 6:93245390-93245390	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1111C>T; p.R371W; 6:93356930-93356930	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1111C>T; p.R371W; 6:93356930-93356930	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2377A>T; p.T793S; 6:93255833-93255833	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1111C>T; p.R371W; 6:93356930-93356930	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1111C>T; p.R371W; 6:93356930-93356930	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1925G>A; p.G642E; 6:93258284-93258284	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2212A>G; p.M738V; 6:93255998-93255998	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2212A>G; p.M738V; 6:93255998-93255998	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2212A>G; p.M738V; 6:93255998-93255998	large_intestine; rectum	NS	Substitution - Missense
c.1401G>T; p.E467D; 6:93272346-93272346	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2555G>A; p.G852D; 6:93246963-93246963	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2705C>T; p.T902I; 6:93246813-93246813	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.2683C>A; p.R895R; 6:93246835-93246835	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1717G>A; p.V573I; 6:93264619-93264619	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1571G>A; p.G524E; 6:93269539-93269539	NS	malignant_melanoma	Substitution - Missense
c.2060G>T; p.G687V; 6:93258149-93258149	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1072delG; p.G358fs*6; 6:93356969-93356969	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.297T>C; p.F99F; 6:93411036-93411036	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2422A>G; p.I808V; 6:93254757-93254757	central_nervous_system; brain	glioma	Substitution - Missense
c.2051G>T; p.S684I; 6:93258158-93258158	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.143T>C; p.I48T; 6:93414722-93414722	skin	malignant_melanoma	Substitution - Missense
c.1719C>T; p.V573V; 6:93264617-93264617	liver	carcinoma	Substitution - coding silent
c.1925-1G>A; p.?; 6:93258285-93258285	skin	malignant_melanoma	Unknown
c.2051G>T; p.S684I; 6:93258158-93258158	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1581T>G; p.S527R; 6:93269529-93269529	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.768G>A; p.W256*; 6:93410565-93410565	skin	malignant_melanoma	Substitution - Nonsense
c.2440A>C; p.T814P; 6:93254739-93254739	skin	malignant_melanoma	Substitution - Missense
c.868G>T; p.D290Y; 6:93358376-93358376	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.868G>T; p.D290Y; 6:93358376-93358376	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2799A>G; p.Q933Q; 6:93245381-93245381	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.534C>A; p.S178S; 6:93410799-93410799	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2035T>A; p.F679I; 6:93258174-93258174	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1520C>A; p.P507Q; 6:93269590-93269590	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.2416G>A; p.E806K; 6:93254763-93254763	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1096A>C; p.R366R; 6:93356945-93356945	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1130G>A; p.G377D; 6:93356911-93356911	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2214G>T; p.M738I; 6:93255996-93255996	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1694G>T; p.G565V; 6:93264642-93264642	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2410G>A; p.A804T; 6:93254769-93254769	skin	malignant_melanoma	Substitution - Missense
c.543A>T; p.G181G; 6:93410790-93410790	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1368G>A; p.Q456Q; 6:93272379-93272379	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2384G>T; p.G795V; 6:93254795-93254795	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.609G>T; p.K203N; 6:93410724-93410724	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.205C>T; p.R69*; 6:93411128-93411128	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1777G>A; p.D593N; 6:93263881-93263881	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1777G>A; p.D593N; 6:93263881-93263881	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.205C>T; p.R69*; 6:93411128-93411128	pancreas	carcinoma	Substitution - Nonsense
c.1795C>T; p.H599Y; 6:93263863-93263863	skin	malignant_melanoma	Substitution - Missense
c.205C>T; p.R69*; 6:93411128-93411128	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1651G>T; p.E551*; 6:93264685-93264685	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.260C>G; p.T87S; 6:93411073-93411073	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.1181G>A; p.G394E; 6:93356860-93356860	skin	malignant_melanoma	Substitution - Missense
c.2052C>A; p.S684R; 6:93258157-93258157	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.22C>T; p.P8S; 6:93419320-93419320	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1549G>A; p.A517T; 6:93269561-93269561	liver	carcinoma	Substitution - Missense
c.2449A>C; p.S817R; 6:93254730-93254730	ovary	other; neoplasm	Substitution - Missense
c.763G>A; p.E255K; 6:93410570-93410570	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1549G>A; p.A517T; 6:93269561-93269561	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1161A>T; p.G387G; 6:93356880-93356880	skin	malignant_melanoma	Substitution - coding silent
c.236C>A; p.P79H; 6:93411097-93411097	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2772C>T; p.T924T; 6:93245408-93245408	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2028G>T; p.R676S; 6:93258181-93258181	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1112_1124>23; p.R371fs; 6:93356917-93356929	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Complex
c.352A>G; p.T118A; 6:93410981-93410981	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.414A>G; p.I138M; 6:93410919-93410919	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2835G>A; p.T945T; 6:93245345-93245345	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2962A>C; p.M988L; 6:93243461-93243461	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2172+1G>T; p.?; 6:93257461-93257461	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2962A>C; p.M988L; 6:93243461-93243461	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.541G>T; p.G181*; 6:93410792-93410792	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.628G>T; p.E210*; 6:93410705-93410705	breast	carcinoma	Substitution - Nonsense
c.700T>G; p.C234G; 6:93410633-93410633	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.700T>G; p.C234G; 6:93410633-93410633	central_nervous_system; brainstem	primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype	Substitution - Missense
c.741G>A; p.R247R; 6:93410592-93410592	skin	malignant_melanoma	Substitution - coding silent
c.2460G>A; p.W820*; 6:93254719-93254719	skin	malignant_melanoma	Substitution - Nonsense
c.733G>A; p.A245T; 6:93410600-93410600	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.733G>A; p.A245T; 6:93410600-93410600	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1975G>T; p.D659Y; 6:93258234-93258234	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1112_1124GGTGCAGTTGGGA>23; p.E375fs*14; 6:93356917-93356929	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Complex - frameshift
c.834C>A; p.P278P; 6:93358410-93358410	pancreas	carcinoma	Substitution - coding silent
c.733G>A; p.A245T; 6:93410600-93410600	pancreas	carcinoma	Substitution - Missense
c.2123_2124insC; p.M708fs*20; 6:93257510-93257511	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.2683C>T; p.R895*; 6:93246835-93246835	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2915G>T; p.G972V; 6:93243508-93243508	haematopoietic_and_lymphoid_tissue; skin	lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome	Substitution - Missense
c.1852A>G; p.N618D; 6:93259426-93259426	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2683C>T; p.R895*; 6:93246835-93246835	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2785G>T; p.G929*; 6:93245395-93245395	skin	malignant_melanoma	Substitution - Nonsense
c.1112G>A; p.R371Q; 6:93356929-93356929	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.2683C>T; p.R895*; 6:93246835-93246835	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2714G>A; p.G905E; 6:93246804-93246804	skin	malignant_melanoma	Substitution - Missense
c.2683C>T; p.R895*; 6:93246835-93246835	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2070C>A; p.D690E; 6:93258139-93258139	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1265C>G; p.S422C; 6:93356776-93356776	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.674C>T; p.S225F; 6:93410659-93410659	skin	malignant_melanoma	Substitution - Missense
c.674C>T; p.S225F; 6:93410659-93410659	skin	malignant_melanoma	Substitution - Missense
c.2238G>A; p.M746I; 6:93255972-93255972	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2482G>A; p.E828K; 6:93254697-93254697	skin; trunk	malignant_melanoma	Substitution - Missense
c.2112G>A; p.G704G; 6:93257522-93257522	skin	malignant_melanoma	Substitution - coding silent
c.2482G>A; p.E828K; 6:93254697-93254697	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.773T>C; p.V258A; 6:93410560-93410560	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.508G>A; p.E170K; 6:93410825-93410825	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.508G>A; p.E170K; 6:93410825-93410825	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2902A>T; p.I968F; 6:93243521-93243521	skin	malignant_melanoma	Substitution - Missense
c.1860T>A; p.A620A; 6:93259418-93259418	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2743C>A; p.L915M; 6:93245437-93245437	liver	carcinoma	Substitution - Missense
c.2743C>A; p.L915M; 6:93245437-93245437	liver	carcinoma	Substitution - Missense
c.1824C>T; p.Y608Y; 6:93259454-93259454	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2196C>T; p.V732V; 6:93256014-93256014	skin	malignant_melanoma	Substitution - coding silent
c.2555G>T; p.G852V; 6:93246963-93246963	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1523G>A; p.G508E; 6:93269587-93269587	skin	malignant_melanoma	Substitution - Missense
c.808C>T; p.Q270*; 6:93410525-93410525	skin	malignant_melanoma	Substitution - Nonsense
c.1743G>A; p.R581R; 6:93263915-93263915	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1048G>A; p.E350K; 6:93356993-93356993	skin	malignant_melanoma	Substitution - Missense
c.1406C>T; p.P469L; 6:93272341-93272341	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.219G>C; p.V73V; 6:93411114-93411114	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.825T>C; p.T275T; 6:93410508-93410508	pancreas	carcinoma	Substitution - coding silent
c.1810G>A; p.G604S; 6:93259468-93259468	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.652_653AC>TT; p.T218L; 6:93410680-93410681	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.621C>T; p.S207S; 6:93410712-93410712	skin	malignant_melanoma	Substitution - coding silent
c.717G>A; p.E239E; 6:93410616-93410616	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.584T>C; p.L195S; 6:93410749-93410749	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2383-2A>G; p.?; 6:93254798-93254798	breast	carcinoma	Unknown
c.146C>T; p.S49F; 6:93414719-93414719	skin	malignant_melanoma	Substitution - Missense
c.2788G>T; p.E930*; 6:93245392-93245392	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.146C>T; p.S49F; 6:93414719-93414719	skin	malignant_melanoma	Substitution - Missense
c.2881G>A; p.E961K; 6:93245299-93245299	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1997C>A; p.T666N; 6:93258212-93258212	kidney	other; neoplasm	Substitution - Missense
c.30G>A; p.W10*; 6:93419312-93419312	skin	malignant_melanoma	Substitution - Nonsense
c.1023_1032del10; p.N341fs*4; 6:93357009-93357018	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.527C>G; p.P176R; 6:93410806-93410806	liver	carcinoma	Substitution - Missense
c.2992G>A; p.V998M; 6:93243431-93243431	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1696A>G; p.T566A; 6:93264640-93264640	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1696A>G; p.T566A; 6:93264640-93264640	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.754G>T; p.A252S; 6:93410579-93410579	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1696A>G; p.T566A; 6:93264640-93264640	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1591G>C; p.D531H; 6:93269519-93269519	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1434C>T; p.I478I; 6:93272313-93272313	NS	malignant_melanoma	Substitution - coding silent
c.1591G>C; p.D531H; 6:93269519-93269519	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2611G>C; p.D871H; 6:93246907-93246907	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1434C>T; p.I478I; 6:93272313-93272313	NS	malignant_melanoma	Substitution - coding silent
c.342A>T; p.G114G; 6:93410991-93410991	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.971C>A; p.P324Q; 6:93358273-93358273	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1445A>G; p.E482G; 6:93272302-93272302	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2139C>T; p.F713F; 6:93257495-93257495	skin	malignant_melanoma	Substitution - coding silent
c.1276C>A; p.R426R; 6:93356765-93356765	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2709C>T; p.P903P; 6:93246809-93246809	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.288A>G; p.Q96Q; 6:93411045-93411045	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1276C>A; p.R426R; 6:93356765-93356765	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.541G>A; p.G181R; 6:93410792-93410792	skin	malignant_melanoma	Substitution - Missense
c.1445A>G; p.E482G; 6:93272302-93272302	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2663G>A; p.G888E; 6:93246855-93246855	skin	malignant_melanoma	Substitution - Missense
c.1149G>A; p.G383G; 6:93356892-93356892	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.696G>A; p.G232G; 6:93410637-93410637	skin	malignant_melanoma	Substitution - coding silent
c.1531_1532insT; p.Y511fs*21; 6:93269578-93269579	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.321G>A; p.R107R; 6:93411012-93411012	skin	malignant_melanoma	Substitution - coding silent
c.2500G>A; p.E834K; 6:93254679-93254679	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.364A>G; p.T122A; 6:93410969-93410969	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1459G>T; p.E487*; 6:93269651-93269651	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1933G>A; p.G645S; 6:93258276-93258276	skin	malignant_melanoma	Substitution - Missense
c.1885G>C; p.D629H; 6:93259393-93259393	breast	carcinoma	Substitution - Missense
c.694G>T; p.G232W; 6:93410639-93410639	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.200C>T; p.P67L; 6:93411133-93411133	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2217G>A; p.L739L; 6:93255993-93255993	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1988C>T; p.A663V; 6:93258221-93258221	stomach	carcinoma	Substitution - Missense
c.752G>T; p.S251I; 6:93410581-93410581	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1390C>T; p.Q464*; 6:93272357-93272357	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.1494T>G; p.T498T; 6:93269616-93269616	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1494T>G; p.T498T; 6:93269616-93269616	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1607A>C; p.E536A; 6:93269503-93269503	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1607A>C; p.E536A; 6:93269503-93269503	liver	carcinoma	Substitution - Missense
c.1277G>A; p.R426Q; 6:93356764-93356764	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1277G>A; p.R426Q; 6:93356764-93356764	skin	malignant_melanoma	Substitution - Missense
c.1277G>A; p.R426Q; 6:93356764-93356764	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.860C>T; p.S287F; 6:93358384-93358384	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.316delC; p.L106fs*1; 6:93411017-93411017	lung	carcinoid-endocrine_tumour; atypical	Deletion - Frameshift
c.1277G>A; p.R426Q; 6:93356764-93356764	skin	malignant_melanoma	Substitution - Missense
c.1883T>C; p.L628P; 6:93259395-93259395	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1092C>T; p.T364T; 6:93356949-93356949	skin	malignant_melanoma	Substitution - coding silent
c.802G>A; p.G268S; 6:93410531-93410531	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2678T>C; p.M893T; 6:93246840-93246840	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2659G>T; p.V887F; 6:93246859-93246859	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2032G>A; p.D678N; 6:93258177-93258177	skin	malignant_melanoma	Substitution - Missense
c.1197T>A; p.Y399*; 6:93356844-93356844	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1186G>T; p.E396*; 6:93356855-93356855	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2572C>T; p.P858S; 6:93246946-93246946	pancreas	carcinoma	Substitution - Missense
c.936T>G; p.C312W; 6:93358308-93358308	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2631T>C; p.R877R; 6:93246887-93246887	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.552T>G; p.L184L; 6:93410781-93410781	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2092G>A; p.E698K; 6:93258117-93258117	skin	malignant_melanoma	Substitution - Missense
c.2092G>A; p.E698K; 6:93258117-93258117	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2854C>T; p.L952F; 6:93245326-93245326	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.36T>G; p.I12M; 6:93419306-93419306	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1350G>A; p.M450I; 6:93272397-93272397	skin	malignant_melanoma	Substitution - Missense
c.1551T>A; p.A517A; 6:93269559-93269559	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2009G>T; p.G670V; 6:93258200-93258200	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1963C>T; p.P655S; 6:93258246-93258246	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1446G>T; p.E482D; 6:93272301-93272301	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1443C>T; p.Y481Y; 6:93272304-93272304	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2171G>A; p.R724K; 6:93257463-93257463	skin	malignant_melanoma	Substitution - Missense
c.2913T>C; p.V971V; 6:93243510-93243510	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.322G>A; p.D108N; 6:93411011-93411011	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1925G>C; p.G642A; 6:93258284-93258284	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.420A>C; p.E140D; 6:93410913-93410913	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.590C>T; p.S197F; 6:93410743-93410743	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2889G>T; p.V963V; 6:93243534-93243534	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1765G>A; p.D589N; 6:93263893-93263893	breast	carcinoma	Substitution - Missense
c.2931C>G; p.I977M; 6:93243492-93243492	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.378C>T; p.Y126Y; 6:93410955-93410955	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.607A>G; p.K203E; 6:93410726-93410726	breast	carcinoma	Substitution - Missense
c.2183G>A; p.G728E; 6:93256027-93256027	skin; mucosal	malignant_melanoma	Substitution - Missense
c.879C>T; p.C293C; 6:93358365-93358365	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1224C>G; p.H408Q; 6:93356817-93356817	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1385C>T; p.S462F; 6:93272362-93272362	skin	malignant_melanoma	Substitution - Missense
c.1196A>G; p.Y399C; 6:93356845-93356845	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2667T>A; p.I889I; 6:93246851-93246851	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1131C>A; p.G377G; 6:93356910-93356910	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.718G>A; p.E240K; 6:93410615-93410615	skin	malignant_melanoma	Substitution - Missense
c.106C>A; p.L36M; 6:93414759-93414759	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.237C>A; p.P79P; 6:93411096-93411096	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1967G>A; p.G656E; 6:93258242-93258242	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1967G>A; p.G656E; 6:93258242-93258242	skin	malignant_melanoma	Substitution - Missense
c.1407C>A; p.P469P; 6:93272340-93272340	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2177A>G; p.H726R; 6:93256033-93256033	liver	carcinoma	Substitution - Missense
c.2625G>A; p.K875K; 6:93246893-93246893	skin	malignant_melanoma	Substitution - coding silent
c.1318C>A; p.Q440K; 6:93356723-93356723	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2177A>G; p.H726R; 6:93256033-93256033	liver	carcinoma	Substitution - Missense
c.2177A>G; p.H726R; 6:93256033-93256033	pancreas	carcinoma	Substitution - Missense
c.79G>T; p.A27S; 6:93419263-93419263	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2075C>A; p.P692Q; 6:93258134-93258134	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2932A>T; p.M978L; 6:93243491-93243491	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.874C>T; p.Q292*; 6:93358370-93358370	skin	malignant_melanoma	Substitution - Nonsense
c.2931C>T; p.I977I; 6:93243492-93243492	skin	malignant_melanoma	Substitution - coding silent
c.2341C>T; p.R781*; 6:93255869-93255869	liver	carcinoma	Substitution - Nonsense
c.2852C>T; p.S951F; 6:93245328-93245328	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1570G>A; p.G524R; 6:93269540-93269540	skin	malignant_melanoma	Substitution - Missense
c.2852C>T; p.S951F; 6:93245328-93245328	skin; arm	malignant_melanoma	Substitution - Missense
c.1807C>T; p.P603S; 6:93259471-93259471	skin	malignant_melanoma	Substitution - Missense
c.1807C>T; p.P603S; 6:93259471-93259471	skin	malignant_melanoma	Substitution - Missense
c.620C>T; p.S207F; 6:93410713-93410713	skin	malignant_melanoma	Substitution - Missense
c.1609G>A; p.E537K; 6:93269501-93269501	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.1609G>A; p.E537K; 6:93269501-93269501	skin	malignant_melanoma	Substitution - Missense
c.542G>A; p.G181E; 6:93410791-93410791	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.865C>T; p.Q289*; 6:93358379-93358379	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1915A>T; p.I639F; 6:93259363-93259363	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.44A>G; p.Y15C; 6:93419298-93419298	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1176G>T; p.Q392H; 6:93356865-93356865	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.457G>A; p.E153K; 6:93410876-93410876	skin	malignant_melanoma	Substitution - Missense
c.2657T>G; p.I886R; 6:93246861-93246861	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2886T>A; p.D962E; 6:93243537-93243537	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2170A>G; p.R724G; 6:93257464-93257464	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1205T>C; p.V402A; 6:93356836-93356836	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1805T>A; p.F602Y; 6:93259473-93259473	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.841C>T; p.R281C; 6:93358403-93358403	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.841C>T; p.R281C; 6:93358403-93358403	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1149G>T; p.G383G; 6:93356892-93356892	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.841C>T; p.R281C; 6:93358403-93358403	pancreas	carcinoma	Substitution - Missense
c.467C>G; p.T156S; 6:93410866-93410866	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.445A>T; p.I149F; 6:93410888-93410888	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.294T>A; p.I98I; 6:93411039-93411039	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2191A>G; p.T731A; 6:93256019-93256019	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2060G>A; p.G687E; 6:93258149-93258149	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2060G>A; p.G687E; 6:93258149-93258149	skin	malignant_melanoma	Substitution - Missense
c.268A>G; p.I90V; 6:93411065-93411065	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2060G>A; p.G687E; 6:93258149-93258149	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.2548G>C; p.E850Q; 6:93246970-93246970	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1502C>T; p.S501F; 6:93269608-93269608	skin	malignant_melanoma	Substitution - Missense
c.267G>A; p.W89*; 6:93411066-93411066	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.267G>A; p.W89*; 6:93411066-93411066	skin	malignant_melanoma	Substitution - Nonsense
c.992C>A; p.P331H; 6:93357049-93357049	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2513G>T; p.W838L; 6:93254666-93254666	breast	carcinoma	Substitution - Missense
c.1547G>T; p.R516L; 6:93269563-93269563	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2310C>T; p.L770L; 6:93255900-93255900	skin	malignant_melanoma	Substitution - coding silent
c.926G>C; p.R309T; 6:93358318-93358318	NS	NS	Substitution - Missense
c.2426A>G; p.Q809R; 6:93254753-93254753	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.781G>T; p.G261*; 6:93410552-93410552	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.2635G>A; p.E879K; 6:93246883-93246883	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2382+6A>G; p.?; 6:93255822-93255822	liver	carcinoma	Unknown
c.781G>T; p.G261*; 6:93410552-93410552	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1966G>T; p.G656W; 6:93258243-93258243	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1966G>T; p.G656W; 6:93258243-93258243	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2382+6A>G; p.?; 6:93255822-93255822	liver	carcinoma	Unknown

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation