Entrez Gene

Basic Information
Gene ID	1540
Name	CYLD
Synonymous	cylindromatosis (turban tumor syndrome);CYLD;cylindromatosis (turban tumor syndrome)
Definition	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
Position	16q12.1
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.23.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
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

Mutation summary in protein domains

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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]