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	2043
Symbol	EPHA4
Synonymous	HEK8\|SEK\|TYRO1
Full name	EPH receptor A4
Gene description	EK8\|EPH-like kinase 8\|TYRO1 protein tyrosine kinase\|ephrin type-A receptor 4\|receptor protein-tyrosine kinase HEK8\|tyrosine-protein kinase TYRO1\|tyrosine-protein kinase receptor SEK
Cytoband	2q36.1
Gene type	protein-coding
Synonymous	MIM:602188; HGNC:HGNC:3388; Ensembl:ENSG00000116106; HPRD:03719

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.859G>A; p.D287N; 2:221501137-221501137	skin	malignant_melanoma	Substitution - Missense
c.1603+4A>T; p.?; 2:221456609-221456609	pancreas	carcinoma	Unknown
c.376T>C; p.Y126H; 2:221564178-221564178	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2710G>A; p.D904N; 2:221426600-221426600	liver	carcinoma	Substitution - Missense
c.376T>C; p.Y126H; 2:221564178-221564178	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.122G>A; p.G41E; 2:221568755-221568755	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1797_1798insT; p.T601fs*17; 2:221443583-221443584	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.26T>C; p.L9P; 2:221572223-221572223	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1440G>A; p.E480E; 2:221457869-221457869	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2880G>A; p.T960T; 2:221426109-221426109	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.593G>A; p.R198H; 2:221563961-221563961	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1810G>T; p.D604Y; 2:221443571-221443571	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2256C>T; p.I752I; 2:221436489-221436489	skin	malignant_melanoma	Substitution - coding silent
c.835G>T; p.G279*; 2:221501161-221501161	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2679G>A; p.T893T; 2:221429969-221429969	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2679G>A; p.T893T; 2:221429969-221429969	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2679G>A; p.T893T; 2:221429969-221429969	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2679G>A; p.T893T; 2:221429969-221429969	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2186G>A; p.G729D; 2:221436559-221436559	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2796C>T; p.F932F; 2:221426514-221426514	skin	malignant_melanoma	Substitution - coding silent
c.363G>A; p.T121T; 2:221564191-221564191	stomach	adenocarcinoma	Substitution - coding silent
c.2796C>T; p.F932F; 2:221426514-221426514	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.2796C>T; p.F932F; 2:221426514-221426514	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.2796C>T; p.F932F; 2:221426514-221426514	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.2796C>T; p.F932F; 2:221426514-221426514	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.994C>T; p.P332S; 2:221482676-221482676	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2796C>T; p.F932F; 2:221426514-221426514	skin	malignant_melanoma	Substitution - coding silent
c.1806C>T; p.Y602Y; 2:221443575-221443575	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1230C>A; p.T410T; 2:221482440-221482440	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1800T>C; p.F600F; 2:221443581-221443581	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1992G>T; p.R664S; 2:221442911-221442911	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2103C>A; p.Y701*; 2:221437094-221437094	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.271C>T; p.R91*; 2:221564283-221564283	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1070G>A; p.R357H; 2:221482600-221482600	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2759T>C; p.L920P; 2:221426551-221426551	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.181G>A; p.D61N; 2:221564373-221564373	skin	malignant_melanoma	Substitution - Missense
c.1222A>C; p.N408H; 2:221482448-221482448	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1108G>A; p.G370R; 2:221482562-221482562	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2643C>T; p.L881L; 2:221430005-221430005	skin	malignant_melanoma	Substitution - coding silent
c.1108G>A; p.G370R; 2:221482562-221482562	skin	malignant_melanoma	Substitution - Missense
c.2954C>T; p.P985L; 2:221426035-221426035	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1603+1delG; p.?; 2:221456612-221456612	skin; scalp	malignant_melanoma	Unknown
c.2212T>C; p.S738P; 2:221436533-221436533	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1108G>A; p.G370R; 2:221482562-221482562	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1537G>T; p.V513L; 2:221456679-221456679	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.701T>C; p.V234A; 2:221563853-221563853	breast	carcinoma	Substitution - Missense
c.2242G>T; p.A748S; 2:221436503-221436503	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1720A>G; p.S574G; 2:221446177-221446177	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2485T>C; p.S829P; 2:221434153-221434153	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2950G>T; p.V984F; 2:221426039-221426039	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2080C>G; p.P694A; 2:221437117-221437117	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1109G>A; p.G370E; 2:221482561-221482561	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1109G>A; p.G370E; 2:221482561-221482561	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2479G>A; p.D827N; 2:221434159-221434159	skin	malignant_melanoma	Substitution - Missense
c.2117C>A; p.S706Y; 2:221437080-221437080	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.218G>T; p.C73F; 2:221564336-221564336	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1110A>G; p.G370G; 2:221482560-221482560	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1757A>G; p.E586G; 2:221446140-221446140	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1421A>G; p.Y474C; 2:221457888-221457888	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.288G>A; p.R96R; 2:221564266-221564266	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1467_1468insAAGCTATCG; p.R489_I490insKLS; 2:221456748-221456749	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - In frame
c.1662G>A; p.S554S; 2:221455600-221455600	skin	malignant_melanoma	Substitution - coding silent
c.1679T>A; p.V560E; 2:221455583-221455583	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2922C>T; p.T974T; 2:221426067-221426067	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1016T>C; p.V339A; 2:221482654-221482654	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2182C>T; p.R728C; 2:221436563-221436563	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.792T>A; p.A264A; 2:221563762-221563762	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2182C>T; p.R728C; 2:221436563-221436563	breast	carcinoma	Substitution - Missense
c.2182C>T; p.R728C; 2:221436563-221436563	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2182C>T; p.R728C; 2:221436563-221436563	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1089T>C; p.N363N; 2:221482581-221482581	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2182C>T; p.R728C; 2:221436563-221436563	pancreas	carcinoma	Substitution - Missense
c.2600A>G; p.D867G; 2:221430048-221430048	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2182C>T; p.R728C; 2:221436563-221436563	pancreas	carcinoma	Substitution - Missense
c.2370G>T; p.W790C; 2:221434268-221434268	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.253C>T; p.R85*; 2:221564301-221564301	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1474C>T; p.R492W; 2:221456742-221456742	breast	carcinoma	Substitution - Missense
c.1474C>T; p.R492W; 2:221456742-221456742	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.45G>A; p.G15G; 2:221572204-221572204	skin	malignant_melanoma	Substitution - coding silent
c.1486A>G; p.R496G; 2:221456730-221456730	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1851C>G; p.D617E; 2:221443530-221443530	skin	malignant_melanoma	Substitution - Missense
c.13T>C; p.F5L; 2:221572236-221572236	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.403C>T; p.R135C; 2:221564151-221564151	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2725G>A; p.E909K; 2:221426585-221426585	skin; neck	malignant_melanoma	Substitution - Missense
c.1321C>T; p.P441S; 2:221457988-221457988	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.682G>A; p.E228K; 2:221563872-221563872	skin	malignant_melanoma	Substitution - Missense
c.2317G>A; p.D773N; 2:221436428-221436428	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.682G>A; p.E228K; 2:221563872-221563872	skin	malignant_melanoma	Substitution - Missense
c.980-8T>G; p.?; 2:221482698-221482698	pancreas	carcinoma	Unknown
c.1875A>G; p.K625K; 2:221443506-221443506	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1090G>A; p.V364M; 2:221482580-221482580	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2325G>A; p.P775P; 2:221436420-221436420	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.203G>T; p.R68L; 2:221564351-221564351	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.171G>T; p.V57V; 2:221564383-221564383	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2096C>A; p.T699K; 2:221437101-221437101	central_nervous_system; brain	glioma	Substitution - Missense
c.2868C>G; p.I956M; 2:221426121-221426121	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1002C>T; p.N334N; 2:221482668-221482668	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1559G>A; p.G520D; 2:221456657-221456657	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2232T>C; p.H744H; 2:221436513-221436513	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2498T>G; p.V833G; 2:221430150-221430150	breast	carcinoma	Substitution - Missense
c.1609T>C; p.S537P; 2:221455653-221455653	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1325C>T; p.S442L; 2:221457984-221457984	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1162C>T; p.P388S; 2:221482508-221482508	liver	carcinoma	Substitution - Missense
c.1162C>T; p.P388S; 2:221482508-221482508	liver	carcinoma	Substitution - Missense
c.2955C>T; p.P985P; 2:221426034-221426034	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2436C>T; p.I812I; 2:221434202-221434202	skin	malignant_melanoma	Substitution - coding silent
c.1584G>A; p.L528L; 2:221456632-221456632	skin	malignant_melanoma	Substitution - coding silent
c.2472C>T; p.P824P; 2:221434166-221434166	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.242A>G; p.N81S; 2:221564312-221564312	skin; sole	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.1372G>A; p.A458T; 2:221457937-221457937	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1878T>C; p.V626V; 2:221443503-221443503	breast	carcinoma	Substitution - coding silent
c.521G>A; p.G174E; 2:221564033-221564033	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2537C>T; p.P846L; 2:221430111-221430111	skin	malignant_melanoma	Substitution - Missense
c.393C>T; p.N131N; 2:221564161-221564161	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.289G>T; p.V97L; 2:221564265-221564265	thyroid	carcinoma	Substitution - Missense
c.1400C>T; p.P467L; 2:221457909-221457909	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2524C>T; p.R842W; 2:221430124-221430124	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2531C>T; p.P844L; 2:221430117-221430117	skin	malignant_melanoma	Substitution - Missense
c.805C>T; p.R269W; 2:221563749-221563749	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2311C>T; p.L771F; 2:221436434-221436434	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.136A>T; p.I46L; 2:221568741-221568741	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.688C>T; p.R230*; 2:221563866-221563866	endometrium	carcinoma; serous_carcinoma	Substitution - Nonsense
c.209A>G; p.Y70C; 2:221564345-221564345	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.245A>T; p.N82I; 2:221564309-221564309	lung	carcinoma; undifferentiated_carcinoma	Substitution - Missense
c.688C>T; p.R230*; 2:221563866-221563866	skin	malignant_melanoma	Substitution - Nonsense
c.688C>T; p.R230*; 2:221563866-221563866	skin	malignant_melanoma	Substitution - Nonsense
c.1712G>A; p.R571Q; 2:221455550-221455550	liver	carcinoma	Substitution - Missense
c.1712G>A; p.R571Q; 2:221455550-221455550	liver	carcinoma	Substitution - Missense
c.1920C>T; p.L640L; 2:221442983-221442983	skin	malignant_melanoma	Substitution - coding silent
c.1151T>C; p.V384A; 2:221482519-221482519	central_nervous_system; brain	glioma	Substitution - Missense
c.1941G>A; p.E647E; 2:221442962-221442962	skin	malignant_melanoma	Substitution - coding silent
c.1209C>T; p.L403L; 2:221482461-221482461	skin	malignant_melanoma	Substitution - coding silent
c.1195T>C; p.S399P; 2:221482475-221482475	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2672C>T; p.T891I; 2:221429976-221429976	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1613G>A; p.R538Q; 2:221455649-221455649	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1195T>C; p.S399P; 2:221482475-221482475	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.907G>T; p.G303*; 2:221501089-221501089	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.762G>A; p.L254L; 2:221563792-221563792	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1782A>G; p.R594R; 2:221443599-221443599	prostate	carcinoma	Substitution - coding silent
c.485G>T; p.R162I; 2:221564069-221564069	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.88G>T; p.E30*; 2:221572161-221572161	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1979C>G; p.T660R; 2:221442924-221442924	liver	carcinoma	Substitution - Missense
c.811G>A; p.G271R; 2:221563743-221563743	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2233C>T; p.R745C; 2:221436512-221436512	skin	malignant_melanoma	Substitution - Missense
c.764T>C; p.V255A; 2:221563790-221563790	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.270C>T; p.T90T; 2:221564284-221564284	skin	malignant_melanoma	Substitution - coding silent
c.668C>T; p.T223M; 2:221563886-221563886	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.394G>A; p.D132N; 2:221564160-221564160	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2605C>G; p.P869A; 2:221430043-221430043	thyroid	other; neoplasm	Substitution - Missense
c.2015G>T; p.S672I; 2:221442888-221442888	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2928G>A; p.M976I; 2:221426061-221426061	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2758C>T; p.L920F; 2:221426552-221426552	skin	malignant_melanoma	Substitution - Missense
c.2808T>C; p.G936G; 2:221426502-221426502	skin	malignant_melanoma	Substitution - coding silent
c.1043G>A; p.W348*; 2:221482627-221482627	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.737A>C; p.Y246S; 2:221563817-221563817	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.474C>T; p.D158D; 2:221564080-221564080	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.598T>C; p.F200L; 2:221563956-221563956	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2652C>T; p.N884N; 2:221429996-221429996	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.98T>C; p.L33S; 2:221568779-221568779	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1200C>T; p.I400I; 2:221482470-221482470	skin	malignant_melanoma	Substitution - coding silent
c.1186A>G; p.T396A; 2:221482484-221482484	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1301T>C; p.V434A; 2:221482369-221482369	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2864G>A; p.G955D; 2:221426125-221426125	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.191delA; p.N64fs*12; 2:221564363-221564363	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.191delA; p.N64fs*12; 2:221564363-221564363	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.191delA; p.N64fs*12; 2:221564363-221564363	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.118C>T; p.Q40*; 2:221568759-221568759	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1771C>T; p.Q591*; 2:221446126-221446126	liver	carcinoma	Substitution - Nonsense
c.1771C>T; p.Q591*; 2:221446126-221446126	liver	carcinoma	Substitution - Nonsense
c.2655C>T; p.P885P; 2:221429993-221429993	liver	carcinoma	Substitution - coding silent
c.2655C>T; p.P885P; 2:221429993-221429993	liver	carcinoma	Substitution - coding silent
c.2294T>C; p.F765S; 2:221436451-221436451	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2631G>C; p.M877I; 2:221430017-221430017	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.580C>T; p.L194L; 2:221563974-221563974	liver	carcinoma	Substitution - coding silent
c.2378C>G; p.P793R; 2:221434260-221434260	prostate	carcinoma	Substitution - Missense
c.900C>T; p.V300V; 2:221501096-221501096	skin	malignant_melanoma	Substitution - coding silent
c.1226A>T; p.Y409F; 2:221482444-221482444	skin	malignant_melanoma	Substitution - Missense
c.1631C>A; p.A544D; 2:221455631-221455631	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.10A>G; p.I4V; 2:221572239-221572239	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1756G>C; p.E586Q; 2:221446141-221446141	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1687C>T; p.L563F; 2:221455575-221455575	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1070G>T; p.R357L; 2:221482600-221482600	pancreas	carcinoma	Substitution - Missense
c.1756G>C; p.E586Q; 2:221446141-221446141	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2688C>A; p.S896S; 2:221429960-221429960	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1500C>T; p.I500I; 2:221456716-221456716	skin	malignant_melanoma	Substitution - coding silent
c.2396G>A; p.R799H; 2:221434242-221434242	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.611G>T; p.C204F; 2:221563943-221563943	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.675C>T; p.S225S; 2:221563879-221563879	skin	malignant_melanoma	Substitution - coding silent
c.2390C>A; p.A797D; 2:221434248-221434248	liver	carcinoma	Substitution - Missense
c.2390C>A; p.A797D; 2:221434248-221434248	liver	carcinoma	Substitution - Missense
c.158G>T; p.G53V; 2:221568719-221568719	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2290G>A; p.D764N; 2:221436455-221436455	skin	malignant_melanoma	Substitution - Missense
c.591C>T; p.V197V; 2:221563963-221563963	skin	malignant_melanoma	Substitution - coding silent
c.2323C>T; p.P775S; 2:221436422-221436422	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1774G>T; p.G592C; 2:221446123-221446123	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.896C>G; p.S299C; 2:221501100-221501100	breast	carcinoma	Substitution - Missense
c.1454A>G; p.E485G; 2:221456762-221456762	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2628C>A; p.N876K; 2:221430020-221430020	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.340G>A; p.V114I; 2:221564214-221564214	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.537G>A; p.K179K; 2:221564017-221564017	skin	malignant_melanoma	Substitution - coding silent
c.1340T>C; p.V447A; 2:221457969-221457969	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.733delA; p.M245fs*89; 2:221563821-221563821	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.963C>A; p.A321A; 2:221501033-221501033	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1088A>G; p.N363S; 2:221482582-221482582	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2001C>T; p.F667F; 2:221442902-221442902	skin	malignant_melanoma	Substitution - coding silent
c.2001C>T; p.F667F; 2:221442902-221442902	skin	malignant_melanoma	Substitution - coding silent
c.1617C>A; p.I539I; 2:221455645-221455645	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.309C>T; p.F103F; 2:221564245-221564245	skin	malignant_melanoma	Substitution - coding silent
c.2216A>T; p.D739V; 2:221436529-221436529	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1888+4A>T; p.?; 2:221443489-221443489	ovary	other; neoplasm	Unknown
c.1354G>T; p.V452F; 2:221457955-221457955	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.794G>A; p.G265E; 2:221563760-221563760	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.729A>G; p.P243P; 2:221563825-221563825	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.404G>A; p.R135H; 2:221564150-221564150	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.1194C>T; p.V398V; 2:221482476-221482476	skin	malignant_melanoma	Substitution - coding silent
c.2794T>G; p.F932V; 2:221426516-221426516	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.408C>T; p.F136F; 2:221564146-221564146	skin	malignant_melanoma	Substitution - coding silent
c.316A>T; p.R106W; 2:221564238-221564238	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.835G>A; p.G279R; 2:221501161-221501161	skin	malignant_melanoma	Substitution - Missense
c.2461G>A; p.G821R; 2:221434177-221434177	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.181G>T; p.D61Y; 2:221564373-221564373	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.362C>T; p.T121M; 2:221564192-221564192	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1052C>G; p.P351R; 2:221482618-221482618	liver	carcinoma	Substitution - Missense
c.2383G>A; p.A795T; 2:221434255-221434255	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.577G>A; p.A193T; 2:221563977-221563977	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.150G>T; p.L50L; 2:221568727-221568727	ovary	other; neoplasm	Substitution - coding silent
c.1813C>T; p.P605S; 2:221443568-221443568	skin	malignant_melanoma	Substitution - Missense
c.1196C>T; p.S399F; 2:221482474-221482474	skin	malignant_melanoma	Substitution - Missense
c.1196C>T; p.S399F; 2:221482474-221482474	skin	malignant_melanoma	Substitution - Missense
c.1667G>T; p.S556I; 2:221455595-221455595	liver	carcinoma	Substitution - Missense
c.292T>C; p.Y98H; 2:221564262-221564262	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1196C>T; p.S399F; 2:221482474-221482474	skin	malignant_melanoma	Substitution - Missense
c.1196C>T; p.S399F; 2:221482474-221482474	skin	malignant_melanoma	Substitution - Missense
c.2010G>T; p.E670D; 2:221442893-221442893	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2836G>A; p.V946M; 2:221426474-221426474	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.335C>T; p.P112L; 2:221564219-221564219	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1268A>G; p.N423S; 2:221482402-221482402	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2009A>G; p.E670G; 2:221442894-221442894	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2009A>G; p.E670G; 2:221442894-221442894	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2009A>G; p.E670G; 2:221442894-221442894	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2346G>A; p.R782R; 2:221436399-221436399	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2811T>C; p.Y937Y; 2:221426499-221426499	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.932G>A; p.R311Q; 2:221501064-221501064	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2533C>T; p.P845S; 2:221430115-221430115	skin	malignant_melanoma	Substitution - Missense
c.2044A>T; p.I682F; 2:221442859-221442859	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1020C>T; p.N340N; 2:221482650-221482650	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1020C>T; p.N340N; 2:221482650-221482650	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2426G>A; p.S809N; 2:221434212-221434212	liver	carcinoma	Substitution - Missense
c.1736C>T; p.A579V; 2:221446161-221446161	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2426G>A; p.S809N; 2:221434212-221434212	liver	carcinoma	Substitution - Missense
c.626G>A; p.R209H; 2:221563928-221563928	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.691G>T; p.G231C; 2:221563863-221563863	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.162G>A; p.W54*; 2:221564392-221564392	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1507C>A; p.L503M; 2:221456709-221456709	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.799G>A; p.E267K; 2:221563755-221563755	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2272T>G; p.L758V; 2:221436473-221436473	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2272T>G; p.L758V; 2:221436473-221436473	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2410G>A; p.A804T; 2:221434228-221434228	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1352A>T; p.E451V; 2:221457957-221457957	liver	carcinoma	Substitution - Missense
c.2780G>T; p.R927L; 2:221426530-221426530	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2249G>A; p.R750Q; 2:221436496-221436496	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1146T>C; p.S382S; 2:221482524-221482524	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.246C>A; p.N82K; 2:221564308-221564308	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.980-1G>T; p.?; 2:221482691-221482691	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1541G>A; p.R514Q; 2:221456675-221456675	central_nervous_system; brain	glioma	Substitution - Missense
c.2842C>T; p.Q948*; 2:221426468-221426468	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.137T>G; p.I46R; 2:221568740-221568740	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2456C>T; p.S819L; 2:221434182-221434182	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.124G>T; p.E42*; 2:221568753-221568753	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1586A>T; p.E529V; 2:221456630-221456630	kidney	other; neoplasm	Substitution - Missense
c.1466G>C; p.R489P; 2:221456750-221456750	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2350G>T; p.G784C; 2:221434288-221434288	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2107G>A; p.E703K; 2:221437090-221437090	skin; neck	malignant_melanoma	Substitution - Missense
c.2847-10C>G; p.?; 2:221426152-221426152	pancreas	carcinoma	Unknown
c.1852G>A; p.A618T; 2:221443529-221443529	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.434T>C; p.I145T; 2:221564120-221564120	pancreas	carcinoma	Substitution - Missense
c.582G>T; p.L194L; 2:221563972-221563972	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1852G>A; p.A618T; 2:221443529-221443529	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1235A>G; p.E412G; 2:221482435-221482435	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1082C>T; p.S361F; 2:221482588-221482588	skin	malignant_melanoma	Substitution - Missense
c.1920C>G; p.L640L; 2:221442983-221442983	breast	carcinoma	Substitution - coding silent
c.746C>T; p.A249V; 2:221563808-221563808	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1082C>T; p.S361F; 2:221482588-221482588	NS	malignant_melanoma	Substitution - Missense
c.1082C>T; p.S361F; 2:221482588-221482588	skin	malignant_melanoma	Substitution - Missense
c.2461G>T; p.G821W; 2:221434177-221434177	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1828C>T; p.R610*; 2:221443553-221443553	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.917C>T; p.S306L; 2:221501079-221501079	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1828C>T; p.R610*; 2:221443553-221443553	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2571G>A; p.M857I; 2:221430077-221430077	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.386C>G; p.S129*; 2:221564168-221564168	breast	carcinoma	Substitution - Nonsense
c.1296C>T; p.V432V; 2:221482374-221482374	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1717C>T; p.R573W; 2:221446180-221446180	pancreas	carcinoma	Substitution - Missense
c.537G>T; p.K179N; 2:221564017-221564017	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1210C>A; p.L404I; 2:221482460-221482460	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1568A>G; p.D523G; 2:221456648-221456648	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation