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	1540
Symbol	CYLD
Synonymous	BRSS\|CDMT\|CYLD1\|CYLDI\|EAC\|MFT\|MFT1\|SBS\|TEM\|USPL2
Full name	cylindromatosis (turban tumor syndrome)
Gene description	deubiquitinating enzyme CYLD\|probable ubiquitin carboxyl-terminal hydrolase CYLD\|ubiquitin carboxyl-terminal hydrolase CYLD\|ubiquitin specific peptidase like 2\|ubiquitin thioesterase CYLD\|ubiquitin thiolesterase CYLD\|ubiquitin-specific-processing protease
Cytoband	16q12.1
Gene type	protein-coding
Synonymous	MIM:605018; HGNC:HGNC:2584; Ensembl:ENSG00000083799; HPRD:05427; Vega:OTTHUMG00000173404

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1239G>T; p.E413D; 16:50779765-50779765	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2829T>A; p.Y943*; 16:50796466-50796466	skin	adnexal_tumour; cylindroma	Substitution - Nonsense
c.1390C>T; p.P464S; 16:50779916-50779916	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1787G>A; p.G596D; 16:50782427-50782427	breast	carcinoma	Substitution - Missense
c.1793A>T; p.Y598F; 16:50782433-50782433	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.472G>A; p.V158I; 16:50750170-50750170	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2602G>A; p.E868K; 16:50794344-50794344	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.775G>A; p.E259K; 16:50751874-50751874	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2109-3_2109-1TAG>AA; p.?; 16:50791555-50791557	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; Hodgkin_lymphoma	Unknown
c.906C>A; p.I302I; 16:50754417-50754417	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.874G>C; p.E292Q; 16:50754385-50754385	oesophagus	carcinoma	Substitution - Missense
c.2680C>G; p.R894G; 16:50794422-50794422	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1542G>A; p.T514T; 16:50781269-50781269	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1542G>A; p.T514T; 16:50781269-50781269	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2050G>A; p.E684K; 16:50787794-50787794	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.126G>T; p.P42P; 16:50749824-50749824	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.439C>T; p.R147C; 16:50750137-50750137	pancreas	carcinoma	Substitution - Missense
c.139G>T; p.G47*; 16:50749837-50749837	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1726C>T; p.P576S; 16:50782366-50782366	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2075A>C; p.H692P; 16:50787819-50787819	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.2075A>C; p.H692P; 16:50787819-50787819	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.2042A>T; p.D681V; 16:50787786-50787786	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1178C>T; p.T393I; 16:50779704-50779704	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1670G>A; p.R557H; 16:50781397-50781397	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1189C>T; p.R397C; 16:50779715-50779715	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.863T>G; p.F288C; 16:50754374-50754374	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1189C>T; p.R397C; 16:50779715-50779715	pancreas	carcinoma	Substitution - Missense
c.1138+11A>C; p.?; 16:50777952-50777952	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1376C>T; p.P459L; 16:50779902-50779902	skin	malignant_melanoma	Substitution - Missense
c.2774C>A; p.S925Y; 16:50796411-50796411	kidney	other; neoplasm	Substitution - Missense
c.1554C>T; p.F518F; 16:50781281-50781281	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2322_2322delA; p.E774fs*2; 16:50792677-50792677	skin; face	adnexal_tumour; trichoblastoma	Deletion - Frameshift
c.2535C>T; p.P845P; 16:50794277-50794277	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1713A>C; p.V571V; 16:50782353-50782353	pancreas	carcinoma	Substitution - coding silent
c.1794C>T; p.Y598Y; 16:50782434-50782434	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1794C>T; p.Y598Y; 16:50782434-50782434	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.843T>C; p.D281D; 16:50754354-50754354	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1196C>T; p.S399L; 16:50779722-50779722	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1139-8_1139-7insT; p.?; 16:50779657-50779658	stomach	adenocarcinoma	Unknown
c.2540G>A; p.W847*; 16:50794282-50794282	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1541C>T; p.T514M; 16:50781268-50781268	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2806C>T; p.R936*; 16:50796443-50796443	skin	adnexal_tumour; cylindroma	Substitution - Nonsense
c.2806C>T; p.R936*; 16:50796443-50796443	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.949C>T; p.P317S; 16:50776205-50776205	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1778G>A; p.G593D; 16:50782418-50782418	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.676G>A; p.E226K; 16:50751775-50751775	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1615T>C; p.C539R; 16:50781342-50781342	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2640G>A; p.K880K; 16:50794382-50794382	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1615T>C; p.C539R; 16:50781342-50781342	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2305_2305delA; p.I769fs*7; 16:50792660-50792660	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2033A>G; p.E678G; 16:50786938-50786938	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2033A>G; p.E678G; 16:50786938-50786938	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1137A>G; p.E379E; 16:50777940-50777940	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1137A>G; p.E379E; 16:50777940-50777940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2033A>G; p.E678G; 16:50786938-50786938	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1123T>G; p.W375G; 16:50777926-50777926	skin	malignant_melanoma	Substitution - Missense
c.1118_1119insA; p.N373fs*6; 16:50777921-50777922	skin	adnexal_tumour; trichoepithelioma	Insertion - Frameshift
c.157C>T; p.R53C; 16:50749855-50749855	skin	malignant_melanoma	Substitution - Missense
c.2178C>T; p.G726G; 16:50791627-50791627	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.427C>T; p.P143S; 16:50750125-50750125	skin	malignant_melanoma	Substitution - Missense
c.2665G>A; p.D889N; 16:50794407-50794407	ovary	carcinoma; Brenner_tumour	Substitution - Missense
c.2159delA; p.N722fs*13; 16:50791608-50791608	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2159delA; p.N722fs*13; 16:50791608-50791608	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.427C>T; p.P143S; 16:50750125-50750125	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2159delA; p.N722fs*13; 16:50791608-50791608	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2159delA; p.N722fs*13; 16:50791608-50791608	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1413A>T; p.E471D; 16:50779939-50779939	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2694G>C; p.Q898H; 16:50796331-50796331	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.685C>T; p.P229S; 16:50751784-50751784	skin	malignant_melanoma	Substitution - Missense
c.2676C>T; p.A892A; 16:50794418-50794418	ovary	other; neoplasm	Substitution - coding silent
c.1807T>C; p.L603L; 16:50782447-50782447	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1726C>A; p.P576T; 16:50782366-50782366	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1681_1682delTT; p.L561fs*8; 16:50781408-50781409	skin	adnexal_tumour; cylindroma	Deletion - Frameshift
c.1681_1682delTT; p.L561fs*8; 16:50781408-50781409	skin	adnexal_tumour; cylindroma	Deletion - Frameshift
c.2055C>A; p.F685L; 16:50787799-50787799	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.379G>A; p.V127M; 16:50750077-50750077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2099T>C; p.L700P; 16:50787843-50787843	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1932_1932delT; p.I644fs*5; 16:50784434-50784434	skin	adnexal_tumour; cylindroma	Deletion - Frameshift
c.737C>T; p.S246F; 16:50751836-50751836	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1564C>T; p.R522W; 16:50781291-50781291	skin	malignant_melanoma	Substitution - Missense
c.2392G>T; p.E798*; 16:50793587-50793587	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.2272C>T; p.R758*; 16:50792627-50792627	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2272C>T; p.R758*; 16:50792627-50792627	skin	adnexal_tumour; cylindroma	Substitution - Nonsense
c.2272C>T; p.R758*; 16:50792627-50792627	skin; scalp	adnexal_tumour; cylindroma	Substitution - Nonsense
c.956T>G; p.L319R; 16:50776212-50776212	liver	carcinoma	Substitution - Missense
c.1147G>T; p.D383Y; 16:50779673-50779673	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.956T>G; p.L319R; 16:50776212-50776212	liver	carcinoma	Substitution - Missense
c.388C>A; p.P130T; 16:50750086-50750086	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.76C>T; p.Q26*; 16:50749774-50749774	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.100C>G; p.Q34E; 16:50749798-50749798	breast	carcinoma	Substitution - Missense
c.2241+1G>T; p.?; 16:50791691-50791691	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1135G>T; p.E379*; 16:50777938-50777938	skin	adnexal_tumour; cylindroma	Substitution - Nonsense
c.1113A>G; p.S371S; 16:50777916-50777916	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.540G>T; p.V180V; 16:50751639-50751639	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.915T>C; p.A305A; 16:50754426-50754426	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1273A>G; p.K425E; 16:50779799-50779799	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1162C>T; p.L388F; 16:50779688-50779688	skin	malignant_melanoma	Substitution - Missense
c.1175C>T; p.S392F; 16:50779701-50779701	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1094C>G; p.S365*; 16:50777897-50777897	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Nonsense
c.277A>G; p.N93D; 16:50749975-50749975	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.101A>C; p.Q34P; 16:50749799-50749799	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.340A>T; p.K114*; 16:50750038-50750038	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Nonsense
c.2119C>T; p.Q707*; 16:50791568-50791568	skin	adnexal_tumour; spiradenoma	Substitution - Nonsense
c.733G>T; p.E245*; 16:50751832-50751832	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.733G>T; p.E245*; 16:50751832-50751832	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1724C>A; p.T575N; 16:50782364-50782364	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5G>A; p.S2N; 16:50749703-50749703	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.147T>C; p.Y49Y; 16:50749845-50749845	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2744A>G; p.Y915C; 16:50796381-50796381	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2262T>C; p.I754I; 16:50792617-50792617	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.808-4C>A; p.?; 16:50754315-50754315	pancreas	carcinoma	Unknown
c.1111T>C; p.S371P; 16:50777914-50777914	large_intestine; rectum	NS	Substitution - Missense
c.2630_2630delA; p.K877fs*36; 16:50794372-50794372	skin	adnexal_tumour; trichoepithelioma	Deletion - Frameshift
c.2236G>A; p.A746T; 16:50791685-50791685	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2107A>G; p.R703G; 16:50787851-50787851	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2805A>G; p.A935A; 16:50796442-50796442	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.866C>A; p.A289E; 16:50754377-50754377	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2713C>T; p.Q905*; 16:50796350-50796350	skin	adnexal_tumour; cylindroma	Substitution - Nonsense
c.2242-2A>T; p.?; 16:50792595-50792595	skin	adnexal_tumour; cylindroma	Unknown
c.2713C>T; p.Q905*; 16:50796350-50796350	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2713C>T; p.Q905*; 16:50796350-50796350	skin; scalp	adnexal_tumour; cylindroma	Substitution - Nonsense
c.1650G>A; p.P550P; 16:50781377-50781377	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2211delT; p.F738fs*6; 16:50791660-50791660	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Deletion - Frameshift
c.114C>T; p.L38L; 16:50749812-50749812	skin	malignant_melanoma	Substitution - coding silent
c.2699G>T; p.G900V; 16:50796336-50796336	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2107A>T; p.R703*; 16:50787851-50787851	skin; scalp	adnexal_tumour; cylindroma	Substitution - Nonsense
c.913G>T; p.A305S; 16:50754424-50754424	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1206C>G; p.L402L; 16:50779732-50779732	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.341A>C; p.K114T; 16:50750039-50750039	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2156_2157insT; p.M719fs*5; 16:50791605-50791606	skin	adnexal_tumour; spiradenocylindroma	Insertion - Frameshift
c.2032G>A; p.E678K; 16:50786937-50786937	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.341A>C; p.K114T; 16:50750039-50750039	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1619G>T; p.R540M; 16:50781346-50781346	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2005G>A; p.V669M; 16:50786910-50786910	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2606C>A; p.T869K; 16:50794348-50794348	thyroid	other; neoplasm	Substitution - Missense
c.1477C>A; p.Q493K; 16:50780003-50780003	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1715delA; p.E573fs*14; 16:50782355-50782355	kidney	carcinoma; renal_cell_carcinoma	Deletion - Frameshift
c.1715delA; p.E573fs*14; 16:50782355-50782355	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1733A>C; p.K578T; 16:50782373-50782373	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1852G>A; p.D618N; 16:50784354-50784354	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1031C>G; p.S344*; 16:50777834-50777834	oesophagus	carcinoma	Substitution - Nonsense
c.2046_2047insAGATCCG; p.E683fs*43; 16:50787790-50787791	skin; scalp	adnexal_tumour; cylindroma	Insertion - Frameshift
c.2044C>A; p.P682T; 16:50787788-50787788	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2217C>G; p.I739M; 16:50791666-50791666	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2311C>T; p.P771S; 16:50792666-50792666	NS	malignant_melanoma	Substitution - Missense
c.2311C>T; p.P771S; 16:50792666-50792666	skin	malignant_melanoma	Substitution - Missense
c.1844C>A; p.S615Y; 16:50784346-50784346	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1713A>G; p.V571V; 16:50782353-50782353	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1474G>A; p.G492S; 16:50780000-50780000	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2032G>T; p.E678*; 16:50786937-50786937	skin; scalp	adnexal_tumour; cylindroma	Substitution - Nonsense
c.2032G>T; p.E678*; 16:50786937-50786937	skin	adnexal_tumour; spiradenoma	Substitution - Nonsense
c.2179G>A; p.V727I; 16:50791628-50791628	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1078_1079GG>TT; p.G360L; 16:50777881-50777882	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1019C>T; p.T340I; 16:50776275-50776275	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1540_1541insA; p.T514fs*29; 16:50781267-50781268	skin	adnexal_tumour; spiradenocylindroma	Insertion - Frameshift
c.657T>C; p.P219P; 16:50751756-50751756	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2061T>C; p.N687N; 16:50787805-50787805	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1754A>G; p.E585G; 16:50782394-50782394	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1469G>T; p.W490L; 16:50779995-50779995	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2484G>A; p.P828P; 16:50794226-50794226	breast	carcinoma	Substitution - coding silent
c.1739_1740insTGGA; p.E580fs*36; 16:50782379-50782380	skin	adnexal_tumour; spiradenocylindroma	Insertion - Frameshift
c.865G>T; p.A289S; 16:50754376-50754376	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.865G>T; p.A289S; 16:50754376-50754376	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2475C>T; p.H825H; 16:50794217-50794217	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.212G>T; p.G71V; 16:50749910-50749910	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.907A>G; p.I303V; 16:50754418-50754418	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2475C>T; p.H825H; 16:50794217-50794217	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.141A>G; p.G47G; 16:50749839-50749839	breast	carcinoma	Substitution - coding silent
c.22C>T; p.Q8*; 16:50749720-50749720	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.73C>A; p.L25I; 16:50749771-50749771	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1448C>T; p.P483L; 16:50779974-50779974	skin	malignant_melanoma	Substitution - Missense
c.145T>C; p.Y49H; 16:50749843-50749843	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.565T>C; p.C189R; 16:50751664-50751664	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1724_1726delCTC; p.P577delP; 16:50782364-50782366	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.2210C>G; p.S737C; 16:50791659-50791659	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2536G>T; p.D846Y; 16:50794278-50794278	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1112C>A; p.S371*; 16:50777915-50777915	skin	adnexal_tumour; cylindroma	Substitution - Nonsense
c.407G>T; p.R136I; 16:50750105-50750105	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2350+2T>A; p.?; 16:50792707-50792707	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2621C>A; p.A874D; 16:50794363-50794363	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.106_107insAA; p.L38fs*10; 16:50749804-50749805	pancreas	carcinoma; ductal_carcinoma	Insertion - Frameshift
c.291A>G; p.T97T; 16:50749989-50749989	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.291A>G; p.T97T; 16:50749989-50749989	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1914G>A; p.E638E; 16:50784416-50784416	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2590G>T; p.V864F; 16:50794332-50794332	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1509A>G; p.G503G; 16:50780035-50780035	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2149A>T; p.I717F; 16:50791598-50791598	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2319G>A; p.L773L; 16:50792674-50792674	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - coding silent
c.1794C>A; p.Y598*; 16:50782434-50782434	skin	adnexal_tumour; spiradenocylindroma	Substitution - Nonsense
c.2273G>T; p.R758L; 16:50792628-50792628	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1341A>C; p.E447D; 16:50779867-50779867	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1794C>A; p.Y598*; 16:50782434-50782434	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2319G>A; p.L773L; 16:50792674-50792674	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.163G>A; p.V55M; 16:50749861-50749861	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.163G>A; p.V55M; 16:50749861-50749861	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.163G>A; p.V55M; 16:50749861-50749861	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.163G>A; p.V55M; 16:50749861-50749861	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.2148A>C; p.Q716H; 16:50791597-50791597	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2554G>A; p.G852S; 16:50794296-50794296	large_intestine; caecum	adenoma	Substitution - Missense
c.2801G>A; p.C934Y; 16:50796438-50796438	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.626_639del14; p.D209fs*2; 16:50751725-50751738	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1908C>A; p.T636T; 16:50784410-50784410	pancreas	carcinoma	Substitution - coding silent
c.2034A>G; p.E678E; 16:50786939-50786939	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2470-7A>G; p.?; 16:50794205-50794205	liver	carcinoma	Unknown
c.631G>A; p.A211T; 16:50751730-50751730	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2241+2T>C; p.?; 16:50791692-50791692	skin	adnexal_tumour; cylindroma	Unknown
c.2467C>T; p.Q823*; 16:50793662-50793662	skin; scalp	adnexal_tumour; cylindroma	Substitution - Nonsense
c.2541G>A; p.W847*; 16:50794283-50794283	skin	adnexal_tumour; trichoepithelioma	Substitution - Nonsense
c.1671C>T; p.R557R; 16:50781398-50781398	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2359C>T; p.Q787*; 16:50793554-50793554	skin	adnexal_tumour; cylindroma	Substitution - Nonsense
c.2409C>T; p.Y803Y; 16:50793604-50793604	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1505C>T; p.A502V; 16:50780031-50780031	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2677G>A; p.D893N; 16:50794419-50794419	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.117T>C; p.L39L; 16:50749815-50749815	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.125C>T; p.P42L; 16:50749823-50749823	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1168_1169GA>TT; p.E390L; 16:50779694-50779695	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.478G>A; p.G160R; 16:50750176-50750176	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1327C>T; p.Q443*; 16:50779853-50779853	skin; face	adnexal_tumour; trichoepithelioma	Substitution - Nonsense
c.2705A>T; p.N902I; 16:50796342-50796342	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2705A>T; p.N902I; 16:50796342-50796342	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1438G>A; p.E480K; 16:50779964-50779964	skin	malignant_melanoma	Substitution - Missense
c.582C>T; p.G194G; 16:50751681-50751681	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.867G>A; p.A289A; 16:50754378-50754378	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.557T>G; p.L186R; 16:50751656-50751656	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2266A>C; p.M756L; 16:50792621-50792621	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2333C>A; p.T778K; 16:50792688-50792688	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1683A>G; p.L561L; 16:50781410-50781410	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1944G>C; p.L648L; 16:50784446-50784446	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1683A>G; p.L561L; 16:50781410-50781410	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2318T>A; p.L773Q; 16:50792673-50792673	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.79G>T; p.E27*; 16:50749777-50749777	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2329A>G; p.I777V; 16:50792684-50792684	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.675C>T; p.V225V; 16:50751774-50751774	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation