Entrez Gene

Basic Information
Gene ID	7248
Name	TSC1

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
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

The somatic mutations from COSMIC database