Entrez Gene

Basic Information
Gene ID	7248
Name	TSC1
Synonymous	tuberous sclerosis 1;TSC1;tuberous sclerosis 1
Definition	hamartin\|tuberous sclerosis 1 protein\|tumor suppressor
Position	9q34
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 0.27.

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.1415G>A; p.S472N; 9:132906754-132906754	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1403C>T; p.S468F; 9:132906766-132906766	skin	malignant_melanoma	Substitution - Missense
c.3127_3129delAGC; p.S1043delS; 9:132896601-132896603	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.2070C>A; p.T690T; 9:132903789-132903789	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1244C>T; p.T415I; 9:132910590-132910590	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.479G>A; p.R160H; 9:132923377-132923377	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2626-4_2626-3insT; p.?; 9:132897613-132897614	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.845C>G; p.S282*; 9:132912350-132912350	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.1678G>A; p.G560S; 9:132905900-132905900	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2111_2112delAT; p.Y704fs*1; 9:132903747-132903748	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.358C>T; p.L120F; 9:132925592-132925592	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.569_569delG; p.R190fs*20; 9:132921913-132921913	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.3409G>A; p.G1137S; 9:132896321-132896321	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1995delC; p.N665fs*59; 9:132905583-132905583	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.2843A>T; p.Y948F; 9:132897316-132897316	breast	carcinoma	Substitution - Missense
c.2130G>A; p.Q710Q; 9:132903729-132903729	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1715G>A; p.C572Y; 9:132905863-132905863	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.555C>T; p.Y185Y; 9:132921927-132921927	prostate	carcinoma	Substitution - coding silent
c.1859T>C; p.V620A; 9:132905719-132905719	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.561C>G; p.L187L; 9:132921921-132921921	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - coding silent
c.1668C>A; p.D556E; 9:132905910-132905910	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3180C>T; p.S1060S; 9:132896550-132896550	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2383G>A; p.E795K; 9:132902613-132902613	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2356C>T; p.R786*; 9:132902640-132902640	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.833C>G; p.S278C; 9:132912362-132912362	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1257delC; p.R420fs*20; 9:132910577-132910577	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1257delC; p.R420fs*20; 9:132910577-132910577	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1257delC; p.R420fs*20; 9:132910577-132910577	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.1257delC; p.R420fs*20; 9:132910577-132910577	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.509-4C>G; p.?; 9:132921977-132921977	ovary	other; neoplasm	Unknown
c.1271G>A; p.R424K; 9:132907363-132907363	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3140C>T; p.T1047I; 9:132896590-132896590	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1724C>T; p.S575F; 9:132905854-132905854	skin	malignant_melanoma	Substitution - Missense
c.1700C>T; p.A567V; 9:132905878-132905878	breast	carcinoma	Substitution - Missense
c.2162_2172del11; p.R721fs*9; 9:132903687-132903697	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.3209C>T; p.A1070V; 9:132896521-132896521	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2625+1G>A; p.?; 9:132900714-132900714	urinary_tract	carcinoma	Unknown
c.1587C>T; p.A529A; 9:132905991-132905991	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1975G>A; p.A659T; 9:132905603-132905603	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.569G>C; p.R190P; 9:132921913-132921913	urinary_tract; bladder	carcinoma	Substitution - Missense
c.520G>T; p.E174*; 9:132921962-132921962	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2901C>T; p.G967G; 9:132897258-132897258	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2209-1G>C; p.?; 9:132902788-132902788	urinary_tract; bladder	carcinoma	Unknown
c.2813+2T>A; p.?; 9:132897421-132897421	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.835C>T; p.H279Y; 9:132912360-132912360	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1982G>T; p.S661I; 9:132905596-132905596	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3321C>T; p.D1107D; 9:132896409-132896409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2116C>T; p.R706C; 9:132903743-132903743	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.215T>G; p.L72R; 9:132925735-132925735	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.683G>A; p.R228Q; 9:132921417-132921417	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2115G>A; p.E705E; 9:132903744-132903744	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1586C>T; p.A529V; 9:132905992-132905992	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.683G>A; p.R228Q; 9:132921417-132921417	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1564G>A; p.A522T; 9:132906014-132906014	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1690G>A; p.E564K; 9:132905888-132905888	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2201C>T; p.A734V; 9:132903658-132903658	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2311A>G; p.M771V; 9:132902685-132902685	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2411_2412GG>CA; p.R804T; 9:132901679-132901680	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.914G>C; p.G305A; 9:132911568-132911568	skin	malignant_melanoma	Substitution - Missense
c.2686C>G; p.L896V; 9:132897550-132897550	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1084_1086delCCT; p.P362delP; 9:132911057-132911059	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.853T>G; p.F285V; 9:132912342-132912342	urinary_tract	carcinoma	Substitution - Missense
c.2367C>T; p.F789F; 9:132902629-132902629	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2095C>T; p.H699Y; 9:132903764-132903764	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.532G>C; p.V178L; 9:132921950-132921950	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2649C>A; p.A883A; 9:132897587-132897587	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2941G>A; p.E981K; 9:132897218-132897218	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3124_3129delAGCAGC; p.S1042_S1043delSS; 9:132896601-132896606	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.1584_1585CG>TT; p.A529S; 9:132905993-132905994	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1591G>A; p.V531M; 9:132905987-132905987	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2160C>T; p.L720L; 9:132903699-132903699	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1976C>T; p.A659V; 9:132905602-132905602	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1976C>T; p.A659V; 9:132905602-132905602	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.617A>G; p.H206R; 9:132921865-132921865	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1335A>G; p.E445E; 9:132906834-132906834	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1335A>G; p.E445E; 9:132906834-132906834	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2157C>T; p.L719L; 9:132903702-132903702	skin	malignant_melanoma	Substitution - coding silent
c.1179C>A; p.T393T; 9:132910655-132910655	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1382G>A; p.G461E; 9:132906787-132906787	skin; abdomen	malignant_melanoma	Substitution - Missense
c.610C>T; p.R204C; 9:132921872-132921872	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.35C>T; p.A12V; 9:132928838-132928838	skin	malignant_melanoma	Substitution - Missense
c.786C>T; p.I262I; 9:132912409-132912409	skin	malignant_melanoma	Substitution - coding silent
c.3289C>T; p.R1097C; 9:132896441-132896441	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3289C>T; p.R1097C; 9:132896441-132896441	breast	carcinoma	Substitution - Missense
c.786C>T; p.I262I; 9:132912409-132912409	skin	malignant_melanoma	Substitution - coding silent
c.1521T>C; p.F507F; 9:132906057-132906057	skin	malignant_melanoma	Substitution - coding silent
c.2830G>A; p.A944T; 9:132897329-132897329	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3428C>T; p.P1143L; 9:132896302-132896302	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1040G>T; p.W347L; 9:132911103-132911103	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3428C>T; p.P1143L; 9:132896302-132896302	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1546C>T; p.Q516*; 9:132906032-132906032	skin	malignant_melanoma	Substitution - Nonsense
c.737+1G>A; p.?; 9:132921362-132921362	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Unknown
c.2391+2T>C; p.?; 9:132902603-132902603	urinary_tract; bladder	carcinoma	Unknown
c.1546C>T; p.Q516*; 9:132906032-132906032	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1546C>T; p.Q516*; 9:132906032-132906032	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1546C>T; p.Q516*; 9:132906032-132906032	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.2391+2T>C; p.?; 9:132902603-132902603	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.501G>T; p.K167N; 9:132923355-132923355	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1670T>C; p.L557P; 9:132905908-132905908	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1726T>C; p.L576L; 9:132905852-132905852	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.132_133insC; p.V46fs*24; 9:132927278-132927279	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Insertion - Frameshift
c.1770T>A; p.P590P; 9:132905808-132905808	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3322G>C; p.G1108R; 9:132896408-132896408	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1805C>T; p.P602L; 9:132905773-132905773	skin	malignant_melanoma	Substitution - Missense
c.2875G>T; p.E959*; 9:132897284-132897284	central_nervous_system; cerebral_cortex	other; tuberous_sclerosis_tuber	Substitution - Nonsense
c.2074C>T; p.R692*; 9:132903785-132903785	urinary_tract	carcinoma	Substitution - Nonsense
c.2074C>T; p.R692*; 9:132903785-132903785	liver	carcinoma	Substitution - Nonsense
c.1264-1G>A; p.?; 9:132907371-132907371	skin; extremity	malignant_melanoma	Unknown
c.2074C>T; p.R692*; 9:132903785-132903785	liver	carcinoma	Substitution - Nonsense
c.421C>T; p.P141S; 9:132923435-132923435	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3280G>T; p.E1094*; 9:132896450-132896450	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Nonsense
c.363+1G>T; p.?; 9:132925586-132925586	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1431A>C; p.K477N; 9:132906738-132906738	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2590G>T; p.E864*; 9:132900750-132900750	liver	carcinoma	Substitution - Nonsense
c.3215C>T; p.A1072V; 9:132896515-132896515	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2590G>T; p.E864*; 9:132900750-132900750	liver	carcinoma	Substitution - Nonsense
c.2590G>T; p.E864*; 9:132900750-132900750	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.494G>A; p.C165Y; 9:132923362-132923362	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.737G>T; p.R246M; 9:132921363-132921363	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3216C>G; p.A1072A; 9:132896514-132896514	skin	malignant_melanoma	Substitution - coding silent
c.737G>T; p.R246M; 9:132921363-132921363	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2391+1G>A; p.?; 9:132902604-132902604	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.786C>A; p.I262I; 9:132912409-132912409	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2626-4delT; p.?; 9:132897614-132897614	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.519G>A; p.A173A; 9:132921963-132921963	breast	carcinoma	Substitution - coding silent
c.973C>A; p.Q325K; 9:132911509-132911509	ovary	other; neoplasm	Substitution - Missense
c.163C>T; p.Q55*; 9:132927248-132927248	urinary_tract	carcinoma	Substitution - Nonsense
c.163C>T; p.Q55*; 9:132927248-132927248	urinary_tract	carcinoma	Substitution - Nonsense
c.733C>A; p.R245R; 9:132921367-132921367	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.47C>G; p.S16C; 9:132928826-132928826	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.590G>T; p.C197F; 9:132921892-132921892	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.36C>A; p.A12A; 9:132928837-132928837	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.36C>A; p.A12A; 9:132928837-132928837	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.156C>T; p.T52T; 9:132927255-132927255	skin	malignant_melanoma	Substitution - coding silent
c.1067C>T; p.T356I; 9:132911076-132911076	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.373G>T; p.D125Y; 9:132923483-132923483	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.982C>T; p.Q328*; 9:132911500-132911500	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1984A>T; p.K662*; 9:132905594-132905594	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3360A>T; p.E1120D; 9:132896370-132896370	soft_tissue; striated_muscle	rhabdomyosarcoma; alveolar	Substitution - Missense
c.612T>C; p.R204R; 9:132921870-132921870	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.345_345delT; p.L116fs*2; 9:132925605-132925605	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.345_345delT; p.L116fs*2; 9:132925605-132925605	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.169G>A; p.A57T; 9:132927242-132927242	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1196delC; p.P399fs*41; 9:132910638-132910638	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1342C>T; p.P448S; 9:132906827-132906827	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2904G>T; p.R968S; 9:132897255-132897255	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.139G>A; p.D47N; 9:132927272-132927272	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3195G>A; p.T1065T; 9:132896535-132896535	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1769C>A; p.P590H; 9:132905809-132905809	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2359G>T; p.E787*; 9:132902637-132902637	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.569G>A; p.R190H; 9:132921913-132921913	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2626-2A>T; p.?; 9:132897612-132897612	meninges	meningioma	Unknown
c.3155C>A; p.P1052Q; 9:132896575-132896575	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.560T>G; p.L187R; 9:132921922-132921922	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1768C>T; p.P590S; 9:132905810-132905810	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.459T>C; p.D153D; 9:132923397-132923397	skin	malignant_melanoma	Substitution - coding silent
c.459T>C; p.D153D; 9:132923397-132923397	skin	malignant_melanoma	Substitution - coding silent
c.1907_1908delAG; p.E636fs*51; 9:132905670-132905671	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.2497C>A; p.Q833K; 9:132901594-132901594	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.211-2A>T; p.?; 9:132925741-132925741	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.2858G>A; p.R953K; 9:132897301-132897301	breast	carcinoma	Substitution - Missense
c.608delT; p.L203fs*7; 9:132921874-132921874	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1974C>T; p.D658D; 9:132905604-132905604	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2244G>A; p.Q748Q; 9:132902752-132902752	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2420T>G; p.I807S; 9:132901671-132901671	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2831C>T; p.A944V; 9:132897328-132897328	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1607T>A; p.L536*; 9:132905971-132905971	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.733C>T; p.R245*; 9:132921367-132921367	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3184C>T; p.R1062W; 9:132896546-132896546	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3184C>T; p.R1062W; 9:132896546-132896546	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1747C>T; p.P583S; 9:132905831-132905831	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.733C>T; p.R245*; 9:132921367-132921367	skin	malignant_melanoma	Substitution - Nonsense
c.733C>T; p.R245*; 9:132921367-132921367	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1743C>T; p.F581F; 9:132905835-132905835	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1743C>T; p.F581F; 9:132905835-132905835	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3127A>G; p.S1043G; 9:132896603-132896603	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1429A>T; p.K477*; 9:132906740-132906740	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1429A>T; p.K477*; 9:132906740-132906740	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3127A>G; p.S1043G; 9:132896603-132896603	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.386T>A; p.L129H; 9:132923470-132923470	breast	carcinoma	Substitution - Missense
c.663+1G>A; p.fs*?; 9:132921818-132921818	bone; femur	chondrosarcoma	Unknown
c.3080G>A; p.R1027Q; 9:132896650-132896650	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.518C>T; p.A173V; 9:132921964-132921964	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2626-4delT; p.?; 9:132897614-132897614	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Unknown
c.663+1G>A; p.fs*?; 9:132921818-132921818	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.3080G>A; p.R1027Q; 9:132896650-132896650	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3080G>A; p.R1027Q; 9:132896650-132896650	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1258_1259insA; p.R420fs*22; 9:132910575-132910576	liver	carcinoma	Insertion - Frameshift
c.2042G>A; p.G681D; 9:132903817-132903817	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2042G>A; p.G681D; 9:132903817-132903817	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.193C>G; p.Q65E; 9:132927218-132927218	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.185C>G; p.T62S; 9:132927226-132927226	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2055A>G; p.S685S; 9:132903804-132903804	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2572G>C; p.V858L; 9:132900768-132900768	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2572G>C; p.V858L; 9:132900768-132900768	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3322G>A; p.G1108S; 9:132896408-132896408	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2580G>A; p.E860E; 9:132900760-132900760	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.263C>T; p.S88F; 9:132925687-132925687	skin; mucosal	malignant_melanoma	Substitution - Missense
c.84C>T; p.V28V; 9:132928789-132928789	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2466T>C; p.C822C; 9:132901625-132901625	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1145G>A; p.G382D; 9:132910689-132910689	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.649G>T; p.E217*; 9:132921833-132921833	liver	carcinoma	Substitution - Nonsense
c.1224C>A; p.H408Q; 9:132910610-132910610	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.235T>C; p.Y79H; 9:132925715-132925715	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.485C>T; p.S162L; 9:132923371-132923371	central_nervous_system; brain	glioma	Substitution - Missense
c.611G>A; p.R204H; 9:132921871-132921871	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.965T>C; p.M322T; 9:132911517-132911517	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.965T>C; p.M322T; 9:132911517-132911517	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1218C>T; p.Y406Y; 9:132910616-132910616	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.611G>A; p.R204H; 9:132921871-132921871	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.721G>T; p.E241*; 9:132921379-132921379	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1669delC; p.L557fs*72; 9:132905909-132905909	urinary_tract	carcinoma	Deletion - Frameshift
c.1669delC; p.L557fs*72; 9:132905909-132905909	urinary_tract	carcinoma	Deletion - Frameshift
c.541C>T; p.H181Y; 9:132921941-132921941	skin	malignant_melanoma	Substitution - Missense
c.2613_2616AGAT>CCCCCC; p.D872fs*7; 9:132900724-132900727	central_nervous_system; medulla	primitive_neuroectodermal_tumour-medulloblastoma; large_cell	Complex - frameshift
c.57G>A; p.L19L; 9:132928816-132928816	liver	carcinoma	Substitution - coding silent
c.57G>A; p.L19L; 9:132928816-132928816	liver	carcinoma	Substitution - coding silent
c.1082C>A; p.S361Y; 9:132911061-132911061	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1181C>A; p.S394Y; 9:132910653-132910653	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3300C>T; p.S1100S; 9:132896430-132896430	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2065C>T; p.R689C; 9:132903794-132903794	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1518C>G; p.P506P; 9:132906060-132906060	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.231C>T; p.N77N; 9:132925719-132925719	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.851G>A; p.R284H; 9:132912344-132912344	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1849C>G; p.H617D; 9:132905729-132905729	urinary_tract	carcinoma	Substitution - Missense
c.203A>G; p.H68R; 9:132927208-132927208	urinary_tract	carcinoma	Substitution - Missense
c.2018C>T; p.S673F; 9:132904434-132904434	NS	NS	Substitution - Missense
c.3061C>T; p.P1021S; 9:132896669-132896669	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2380C>T; p.Q794*; 9:132902616-132902616	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1366C>T; p.L456L; 9:132906803-132906803	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2883G>A; p.E961E; 9:132897276-132897276	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.?; p.L536fs*11; 9:132905971-132905972	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.?; p.C401fs*4; 9:132910632-132910633	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.3210G>A; p.A1070A; 9:132896520-132896520	pancreas	carcinoma	Substitution - coding silent
c.2612C>G; p.S871*; 9:132900728-132900728	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.492G>A; p.W164*; 9:132923364-132923364	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1269G>C; p.E423D; 9:132907365-132907365	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2626-5_2626-4delTT; p.?; 9:132897614-132897615	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2805C>T; p.L935L; 9:132897431-132897431	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.208A>G; p.K70E; 9:132927203-132927203	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2010C>A; p.P670P; 9:132904442-132904442	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.516G>A; p.V172V; 9:132921966-132921966	skin	malignant_melanoma	Substitution - coding silent
c.571C>T; p.L191F; 9:132921911-132921911	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1041G>A; p.W347*; 9:132911102-132911102	urinary_tract	carcinoma	Substitution - Nonsense
c.1727_1748>G; p.L576_P583>C; 9:132905830-132905851	urinary_tract	carcinoma	Complex - deletion inframe
c.611G>T; p.R204L; 9:132921871-132921871	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1391G>C; p.G464A; 9:132906778-132906778	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3086G>A; p.S1029N; 9:132896644-132896644	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2793G>C; p.E931D; 9:132897443-132897443	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3330C>T; p.T1110T; 9:132896400-132896400	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2303G>A; p.R768H; 9:132902693-132902693	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2117G>A; p.R706H; 9:132903742-132903742	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2117G>A; p.R706H; 9:132903742-132903742	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.492_492delG; p.W164fs*3; 9:132923364-132923364	urinary_tract	carcinoma	Deletion - Frameshift
c.595_596delTT; p.F199fs*18; 9:132921886-132921887	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.862C>T; p.R288C; 9:132912333-132912333	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2459_2460insA; p.V821fs*5; 9:132901631-132901632	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.2502+5G>C; p.?; 9:132901584-132901584	liver	carcinoma	Unknown
c.140A>G; p.D47G; 9:132927271-132927271	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.140A>G; p.D47G; 9:132927271-132927271	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.2502+5G>C; p.?; 9:132901584-132901584	liver	carcinoma	Unknown
c.2425G>A; p.E809K; 9:132901666-132901666	bone; ilium	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2391+2T>G; p.?; 9:132902603-132902603	skin	malignant_melanoma	Unknown

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]