Entrez Gene

Basic Information
Gene ID	79577
Name	CDC73
Synonymous	cell division cycle 73;CDC73;cell division cycle 73
Definition	Paf1/RNA polymerase II complex component\|cell division cycle 73, Paf1/RNA polymerase II complex component, homolog\|cell division cycle protein 73 homolog\|hyperparathyroidism 2 protein\|parafibromin
Position	1q25
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 0.14.

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.1480G>T; p.V494L; 1:193249792-193249792	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.14T>C; p.L5P; 1:193122214-193122214	parathyroid	carcinoma	Substitution - Missense
c.14T>C; p.L5P; 1:193122214-193122214	parathyroid	carcinoma	Substitution - Missense
c.228A>G; p.R76R; 1:193125208-193125208	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.465_466CC>TT; p.R156C; 1:193138126-193138127	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.437T>C; p.V146A; 1:193138098-193138098	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.228A>G; p.R76R; 1:193125208-193125208	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.697A>G; p.T233A; 1:193142034-193142034	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.162C>A; p.Y54*; 1:193125142-193125142	parathyroid	carcinoma	Substitution - Nonsense
c.162C>A; p.Y54*; 1:193125142-193125142	parathyroid	carcinoma	Substitution - Nonsense
c.229C>T; p.R77C; 1:193125209-193125209	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.85delG; p.E29fs*8; 1:193122285-193122285	parathyroid	carcinoma	Deletion - Frameshift
c.85delG; p.E29fs*8; 1:193122285-193122285	parathyroid	carcinoma	Deletion - Frameshift
c.285T>C; p.L95L; 1:193130221-193130221	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.82_85delGGGG; p.G28fs*8; 1:193122282-193122285	parathyroid	carcinoma	Deletion - Frameshift
c.416G>A; p.R139Q; 1:193135582-193135582	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.416G>A; p.R139Q; 1:193135582-193135582	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.416G>A; p.R139Q; 1:193135582-193135582	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.693_694insG; p.R232fs*35; 1:193142030-193142031	parathyroid	carcinoma	Insertion - Frameshift
c.272G>A; p.R91Q; 1:193130208-193130208	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.272G>A; p.R91Q; 1:193130208-193130208	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.272G>A; p.R91Q; 1:193130208-193130208	breast	carcinoma	Substitution - Missense
c.272G>A; p.R91Q; 1:193130208-193130208	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.929A>T; p.D310V; 1:193152401-193152401	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.95_102delGGCCCAAG; p.W32fs*1; 1:193122295-193122302	parathyroid	adenoma	Deletion - Frameshift
c.272G>A; p.R91Q; 1:193130208-193130208	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.272G>A; p.R91Q; 1:193130208-193130208	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.144A>G; p.E48E; 1:193125124-193125124	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.144A>G; p.E48E; 1:193125124-193125124	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.144A>G; p.E48E; 1:193125124-193125124	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.144A>G; p.E48E; 1:193125124-193125124	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.144A>G; p.E48E; 1:193125124-193125124	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.316G>T; p.A106S; 1:193135399-193135399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1352C>T; p.A451V; 1:193236291-193236291	breast	carcinoma	Substitution - Missense
c.1171G>A; p.E391K; 1:193233009-193233009	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1171G>A; p.E391K; 1:193233009-193233009	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.709A>G; p.I237V; 1:193142046-193142046	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.904G>T; p.E302*; 1:193150379-193150379	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.904G>T; p.E302*; 1:193150379-193150379	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.921C>G; p.F307L; 1:193152393-193152393	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.533C>G; p.S178*; 1:193141870-193141870	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.533C>G; p.S178*; 1:193141870-193141870	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.284T>C; p.L95P; 1:193130220-193130220	parathyroid	carcinoma	Substitution - Missense
c.284T>C; p.L95P; 1:193130220-193130220	parathyroid	adenoma	Substitution - Missense
c.547G>C; p.A183P; 1:193141884-193141884	pancreas	carcinoma	Substitution - Missense
c.907G>C; p.E303Q; 1:193150382-193150382	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.142G>T; p.E48*; 1:193125122-193125122	parathyroid	adenoma-hyperplasia_NS	Substitution - Nonsense
c.194_195insT; p.N66fs*1; 1:193125174-193125175	parathyroid	carcinoma	Insertion - Frameshift
c.1034C>A; p.S345Y; 1:193212068-193212068	breast	carcinoma	Substitution - Missense
c.23_26TGCG>GTG; p.L8fs*13; 1:193122223-193122226	parathyroid	carcinoma	Complex - frameshift
c.1117A>G; p.T373A; 1:193212440-193212440	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.23_26TGCG>GTG; p.L8fs*13; 1:193122223-193122226	parathyroid	carcinoma	Complex - frameshift
c.265C>G; p.P89A; 1:193130201-193130201	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1491A>T; p.L497F; 1:193249803-193249803	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.686_689delGAGT; p.R229fs*27; 1:193142023-193142026	parathyroid	carcinoma	Deletion - Frameshift
c.433T>C; p.C145R; 1:193138094-193138094	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.126_131delTTGGGG; p.?; 1:193122326-193122349	parathyroid	adenoma	Unknown
c.195_196insT; p.N66fs*1; 1:193125175-193125176	parathyroid	carcinoma	Insertion - Frameshift
c.70_70delG; p.E24fs*2; 1:193122270-193122270	parathyroid	carcinoma	Deletion - Frameshift
c.70_70delG; p.E24fs*2; 1:193122270-193122270	bone; mandible	cemento-ossifying_fibroma	Deletion - Frameshift
c.1368T>C; p.G456G; 1:193236307-193236307	skin	malignant_melanoma	Substitution - coding silent
c.245A>G; p.N82S; 1:193130181-193130181	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1361T>G; p.F454C; 1:193236300-193236300	liver	carcinoma	Substitution - Missense
c.1361T>G; p.F454C; 1:193236300-193236300	liver	carcinoma	Substitution - Missense
c.13_30del18; p.L5_Q10del; 1:193122213-193122230	parathyroid	carcinoma	Deletion - In frame
c.700C>T; p.R234*; 1:193142037-193142037	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.700C>T; p.R234*; 1:193142037-193142037	parathyroid	carcinoma	Substitution - Nonsense
c.259A>T; p.R87*; 1:193130195-193130195	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.132-1G>T; p.?; 1:193125111-193125111	lung	carcinoma; adenocarcinoma	Unknown
c.1137C>T; p.D379D; 1:193212460-193212460	skin	malignant_melanoma	Substitution - coding silent
c.787C>T; p.R263C; 1:193147924-193147924	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.128G>A; p.W43*; 1:193122328-193122328	parathyroid	adenoma	Substitution - Nonsense
c.128G>A; p.W43*; 1:193122328-193122328	parathyroid	carcinoma	Substitution - Nonsense
c.787C>T; p.R263C; 1:193147924-193147924	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.128G>A; p.W43*; 1:193122328-193122328	parathyroid	carcinoma	Substitution - Nonsense
c.829-2A>T; p.?; 1:193150302-193150302	lung	carcinoma; adenocarcinoma	Unknown
c.70_73delGAAG; p.E24fs*1; 1:193122270-193122273	parathyroid	adenoma	Deletion - Frameshift
c.33_34insCT; p.N12fs*10; 1:193122233-193122234	parathyroid	carcinoma	Insertion - Frameshift
c.53delT; p.I18fs*3; 1:193122253-193122253	parathyroid	adenoma	Deletion - Frameshift
c.305C>T; p.A102V; 1:193130241-193130241	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.16delA; p.S6fs*15; 1:193122216-193122216	parathyroid	carcinoma	Deletion - Frameshift
c.306G>A; p.A102A; 1:193130242-193130242	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.227G>A; p.R76Q; 1:193125207-193125207	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.197_198insA; p.N66fs*16; 1:193125177-193125178	parathyroid	carcinoma	Insertion - Frameshift
c.1183C>T; p.Q395*; 1:193233021-193233021	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.581G>T; p.R194I; 1:193141918-193141918	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.581G>T; p.R194I; 1:193141918-193141918	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1559G>A; p.R520K; 1:193249871-193249871	stomach	adenocarcinoma	Substitution - Missense
c.266C>G; p.P89R; 1:193130202-193130202	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.194_195insA; p.N65fs*2; 1:193125174-193125175	parathyroid	carcinoma	Insertion - Frameshift
c.164A>T; p.Y55F; 1:193125144-193125144	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.164A>G; p.Y55C; 1:193125144-193125144	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.164A>G; p.Y55C; 1:193125144-193125144	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.320G>T; p.S107I; 1:193135403-193135403	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.70G>T; p.E24*; 1:193122270-193122270	parathyroid	carcinoma	Substitution - Nonsense
c.70G>T; p.E24*; 1:193122270-193122270	parathyroid	carcinoma	Substitution - Nonsense
c.248_248delT; p.P84fs*25; 1:193130184-193130184	parathyroid	carcinoma	Deletion - Frameshift
c.61_64delAAGG; p.K21fs*4; 1:193122261-193122264	parathyroid	carcinoma	Deletion - Frameshift
c.27A>G; p.R9R; 1:193122227-193122227	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.745_746insT; p.A251fs*16; 1:193147882-193147883	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1325T>G; p.V442G; 1:193236264-193236264	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.76delA; p.I26fs*11; 1:193122276-193122276	parathyroid	carcinoma	Deletion - Frameshift
c.181T>C; p.L61L; 1:193125161-193125161	thyroid	other; neoplasm	Substitution - coding silent
c.832C>T; p.P278S; 1:193150307-193150307	skin	malignant_melanoma	Substitution - Missense
c.1492G>T; p.E498*; 1:193249804-193249804	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.34_37delAACA; p.N12fs*8; 1:193122234-193122237	parathyroid	carcinoma	Deletion - Frameshift
c.1366G>T; p.G456C; 1:193236305-193236305	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1192C>T; p.Q398*; 1:193233030-193233030	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.550G>C; p.A184P; 1:193141887-193141887	central_nervous_system; brain	glioma	Substitution - Missense
c.1245_1262del18; p.G416_V421del; 1:193233083-193233100	bone; mandible	cemento-ossifying_fibroma	Deletion - In frame
c.39delC; p.Q14fs*7; 1:193122239-193122239	parathyroid	carcinoma	Deletion - Frameshift
c.1214T>C; p.I405T; 1:193233052-193233052	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.199G>A; p.V67M; 1:193125179-193125179	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.947A>T; p.H316L; 1:193152419-193152419	breast	carcinoma	Substitution - Missense
c.1450C>T; p.R484C; 1:193249762-193249762	skin	malignant_melanoma	Substitution - Missense
c.179T>A; p.I60N; 1:193125159-193125159	bone; mandible	cemento-ossifying_fibroma	Substitution - Missense
c.160T>C; p.Y54H; 1:193125140-193125140	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1521T>C; p.D507D; 1:193249833-193249833	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.160T>C; p.Y54H; 1:193125140-193125140	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.160T>C; p.Y54H; 1:193125140-193125140	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.182T>A; p.L61*; 1:193125162-193125162	parathyroid	carcinoma	Substitution - Nonsense
c.160T>C; p.Y54H; 1:193125140-193125140	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.512G>A; p.R171K; 1:193138173-193138173	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.929A>G; p.D310G; 1:193152401-193152401	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.467G>A; p.R156H; 1:193138128-193138128	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.219T>C; p.V73V; 1:193125199-193125199	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.732delT; p.S246fs*11; 1:193147869-193147869	parathyroid	carcinoma	Deletion - Frameshift
c.165C>T; p.Y55Y; 1:193125145-193125145	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.162C>G; p.Y54*; 1:193125142-193125142	parathyroid	carcinoma	Substitution - Nonsense
c.162C>G; p.Y54*; 1:193125142-193125142	parathyroid	adenoma	Substitution - Nonsense
c.162C>G; p.Y54*; 1:193125142-193125142	parathyroid	carcinoma	Substitution - Nonsense
c.162C>G; p.Y54*; 1:193125142-193125142	parathyroid	carcinoma	Substitution - Nonsense
c.1106C>A; p.T369N; 1:193212429-193212429	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.730-1G>T; p.?; 1:193147866-193147866	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1106C>A; p.T369N; 1:193212429-193212429	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.26G>T; p.R9L; 1:193122226-193122226	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.60_69del10; p.G22fs*1; 1:193122260-193122269	parathyroid	carcinoma	Deletion - Frameshift
c.1538G>A; p.R513Q; 1:193249850-193249850	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.911C>A; p.T304K; 1:193152383-193152383	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.513-1delG; p.?; 1:193141849-193141849	parathyroid	carcinoma	Unknown
c.25C>T; p.R9*; 1:193122225-193122225	parathyroid	carcinoma	Substitution - Nonsense
c.25C>T; p.R9*; 1:193122225-193122225	parathyroid	carcinoma	Substitution - Nonsense
c.25C>T; p.R9*; 1:193122225-193122225	parathyroid	carcinoma	Substitution - Nonsense
c.25C>T; p.R9*; 1:193122225-193122225	parathyroid	carcinoma	Substitution - Nonsense
c.678_679insAG; p.V230fs*28; 1:193142015-193142016	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.334G>A; p.A112T; 1:193135417-193135417	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1429C>T; p.H477Y; 1:193249741-193249741	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.702A>G; p.R234R; 1:193142039-193142039	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1073G>A; p.R358Q; 1:193212396-193212396	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1073G>A; p.R358Q; 1:193212396-193212396	breast	carcinoma	Substitution - Missense
c.439C>T; p.R147C; 1:193138100-193138100	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.439C>T; p.R147C; 1:193138100-193138100	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.9C>A; p.D3E; 1:193122209-193122209	ovary	other; neoplasm	Substitution - Missense
c.439C>T; p.R147C; 1:193138100-193138100	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.841C>T; p.R281C; 1:193150316-193150316	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1323C>T; p.R441R; 1:193236262-193236262	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.985G>T; p.A329S; 1:193203807-193203807	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.614T>C; p.I205T; 1:193141951-193141951	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.788G>A; p.R263H; 1:193147925-193147925	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.165C>A; p.Y55*; 1:193125145-193125145	parathyroid	carcinoma	Substitution - Nonsense
c.1353A>G; p.A451A; 1:193236292-193236292	pancreas	carcinoma	Substitution - coding silent
c.1353A>G; p.A451A; 1:193236292-193236292	pancreas	carcinoma	Substitution - coding silent
c.690A>G; p.V230V; 1:193142027-193142027	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1554G>A; p.L518L; 1:193249866-193249866	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.512G>T; p.R171M; 1:193138173-193138173	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.366_367TC>CT; p.T122>?; 1:193135449-193135450	lung	carcinoma; adenocarcinoma	Complex
c.340T>G; p.L114V; 1:193135423-193135423	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.717A>T; p.Q239H; 1:193142054-193142054	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.383C>T; p.A128V; 1:193135549-193135549	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4G>T; p.A2S; 1:193122204-193122204	parathyroid	adenoma	Substitution - Missense
c.226C>T; p.R76*; 1:193125206-193125206	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.226C>T; p.R76*; 1:193125206-193125206	parathyroid	carcinoma	Substitution - Nonsense
c.619G>T; p.A207S; 1:193141956-193141956	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1333G>A; p.V445I; 1:193236272-193236272	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1333G>A; p.V445I; 1:193236272-193236272	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1286A>T; p.D429V; 1:193233124-193233124	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1587G>T; p.L529F; 1:193250703-193250703	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.563A>C; p.K188T; 1:193141900-193141900	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.628C>T; p.Q210*; 1:193141965-193141965	skin; mucosal	malignant_melanoma	Substitution - Nonsense
c.64G>T; p.G22*; 1:193122264-193122264	parathyroid	carcinoma	Substitution - Nonsense
c.143A>G; p.E48G; 1:193125123-193125123	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.143A>G; p.E48G; 1:193125123-193125123	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.165delC; p.Y55fs*1; 1:193125145-193125145	parathyroid	carcinoma	Deletion - Frameshift
c.1031-1G>A; p.?; 1:193212064-193212064	skin; trunk	malignant_melanoma	Unknown
c.165delC; p.Y55fs*1; 1:193125145-193125145	parathyroid	carcinoma	Deletion - Frameshift
c.554T>C; p.I185T; 1:193141891-193141891	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1572G>T; p.K524N; 1:193250688-193250688	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1572G>T; p.K524N; 1:193250688-193250688	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1572G>T; p.K524N; 1:193250688-193250688	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.351T>C; p.G117G; 1:193135434-193135434	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.729G>T; p.K243N; 1:193142066-193142066	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.746delT; p.F250fs*7; 1:193147883-193147883	parathyroid	carcinoma	Deletion - Frameshift
c.98C>A; p.P33H; 1:193122298-193122298	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.929A>C; p.D310A; 1:193152401-193152401	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.729+2T>C; p.?; 1:193142068-193142068	kidney	other; neoplasm	Unknown
c.131+1G>A; p.?; 1:193122332-193122332	parathyroid	adenoma	Unknown
c.1155-1G>T; p.?; 1:193232992-193232992	lung	carcinoma; adenocarcinoma	Unknown
c.32_32delA; p.Y11fs*10; 1:193122232-193122232	parathyroid	adenoma	Deletion - Frameshift
c.990G>T; p.R330R; 1:193203812-193203812	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.230G>C; p.R77P; 1:193125210-193125210	parathyroid	adenoma	Substitution - Missense
c.931A>G; p.T311A; 1:193152403-193152403	urinary_tract; bladder	carcinoma	Substitution - Missense
c.773C>T; p.A258V; 1:193147910-193147910	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.883C>G; p.Q295E; 1:193150358-193150358	pancreas	NS	Substitution - Missense
c.72_90del19; p.E24fs*7; 1:193122272-193122290	parathyroid	adenoma	Deletion - Frameshift
c.991A>G; p.K331E; 1:193203813-193203813	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1451G>T; p.R484L; 1:193249763-193249763	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.266C>T; p.P89L; 1:193130202-193130202	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1230delC; p.Q411fs*17; 1:193233068-193233068	parathyroid	carcinoma	Deletion - Frameshift
c.282A>T; p.L94L; 1:193130218-193130218	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.277G>T; p.D93Y; 1:193130213-193130213	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.277G>T; p.D93Y; 1:193130213-193130213	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.760C>T; p.Q254*; 1:193147897-193147897	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.102G>T; p.K34N; 1:193122302-193122302	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1556A>G; p.D519G; 1:193249868-193249868	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1412C>T; p.A471V; 1:193236351-193236351	breast	carcinoma	Substitution - Missense
c.1174A>C; p.K392Q; 1:193233012-193233012	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.60_60delG; p.K21fs*5; 1:193122260-193122260	parathyroid	carcinoma	Deletion - Frameshift
c.1247G>A; p.G416D; 1:193233085-193233085	breast	carcinoma	Substitution - Missense
c.564A>C; p.K188N; 1:193141901-193141901	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.214C>T; p.P72S; 1:193125194-193125194	parathyroid	adenoma	Substitution - Missense
c.859_860CC>TT; p.P287L; 1:193150334-193150335	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.358C>T; p.R120*; 1:193135441-193135441	skin	malignant_melanoma	Substitution - Nonsense
c.358C>T; p.R120*; 1:193135441-193135441	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.889A>G; p.R297G; 1:193150364-193150364	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.717A>C; p.Q239H; 1:193142054-193142054	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.73G>C; p.V25L; 1:193122273-193122273	bone; femur	chondrosarcoma	Substitution - Missense
c.185T>A; p.F62Y; 1:193125165-193125165	thyroid	other; neoplasm	Substitution - Missense
c.1324G>T; p.V442F; 1:193236263-193236263	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1581G>A; p.S527S; 1:193250697-193250697	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.879C>A; p.Y293*; 1:193150354-193150354	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense

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]