Entrez Gene

Basic Information
Gene ID	27340
Name	UTP20
Synonymous	UTP20, small subunit (SSU) processome component, homolog (yeast);UTP20;UTP20, small subunit (SSU) processome component, homolog (yeast)
Definition	NNP73\|down regulated in metastasis\|down-regulated in metastasis protein\|novel nucleolar protein 73\|small subunit processome component 20 homolog
Position	12q23
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.3649C>T; p.P1217S; 12:101338058-101338058	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.766C>A; p.P256T; 12:101290763-101290763	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7253A>T; p.N2418I; 12:101374929-101374929	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.7253A>T; p.N2418I; 12:101374929-101374929	urinary_tract; bladder	carcinoma	Substitution - Missense
c.7297C>T; p.R2433C; 12:101375657-101375657	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7834G>C; p.E2612Q; 12:101383218-101383218	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3582G>T; p.E1194D; 12:101334445-101334445	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2304G>A; p.T768T; 12:101311791-101311791	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.7297C>T; p.R2433C; 12:101375657-101375657	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7297C>T; p.R2433C; 12:101375657-101375657	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.3730C>T; p.L1244F; 12:101338139-101338139	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1473C>T; p.N491N; 12:101299724-101299724	kidney	other; neoplasm	Substitution - coding silent
c.3142A>T; p.T1048S; 12:101327181-101327181	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.5542C>T; p.L1848L; 12:101356933-101356933	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6014G>A; p.R2005H; 12:101365514-101365514	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7373C>G; p.A2458G; 12:101375733-101375733	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5311G>C; p.E1771Q; 12:101355035-101355035	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.719A>T; p.H240L; 12:101290258-101290258	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1868C>T; p.S623F; 12:101306001-101306001	skin	malignant_melanoma	Substitution - Missense
c.5163G>A; p.V1721V; 12:101354887-101354887	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.230C>T; p.S77L; 12:101285785-101285785	skin	malignant_melanoma	Substitution - Missense
c.4935A>G; p.K1645K; 12:101352105-101352105	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2097G>A; p.L699L; 12:101308286-101308286	oesophagus	carcinoma	Substitution - coding silent
c.736-1G>A; p.?; 12:101290732-101290732	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.453G>A; p.S151S; 12:101286447-101286447	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2486C>A; p.T829N; 12:101312210-101312210	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3464G>T; p.G1155V; 12:101333347-101333347	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1858G>T; p.G620W; 12:101305991-101305991	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4934A>T; p.K1645I; 12:101352104-101352104	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1870C>T; p.Q624*; 12:101306003-101306003	skin	malignant_melanoma	Substitution - Nonsense
c.2303C>T; p.T768M; 12:101311790-101311790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2303C>T; p.T768M; 12:101311790-101311790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2602C>A; p.R868R; 12:101317527-101317527	liver	carcinoma	Substitution - coding silent
c.7741G>C; p.D2581H; 12:101383125-101383125	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4068C>G; p.L1356L; 12:101340577-101340577	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3113T>C; p.M1038T; 12:101327152-101327152	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2602C>A; p.R868R; 12:101317527-101317527	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2113G>A; p.D705N; 12:101308302-101308302	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3386C>A; p.T1129N; 12:101329418-101329418	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4722C>T; p.F1574F; 12:101345670-101345670	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5869C>T; p.R1957*; 12:101363654-101363654	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2888A>G; p.Y963C; 12:101320910-101320910	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7549G>T; p.A2517S; 12:101379523-101379523	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.51T>C; p.L17L; 12:101281121-101281121	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3969A>G; p.K1323K; 12:101338913-101338913	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1493A>G; p.D498G; 12:101299744-101299744	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.384_385insT; p.L131fs*27; 12:101286378-101286379	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.4235C>T; p.T1412M; 12:101342579-101342579	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.384_385insT; p.L131fs*27; 12:101286378-101286379	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3198T>G; p.H1066Q; 12:101327237-101327237	prostate	carcinoma	Substitution - Missense
c.3533C>T; p.A1178V; 12:101333416-101333416	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2613C>T; p.G871G; 12:101317538-101317538	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.5610G>A; p.A1870A; 12:101357001-101357001	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.7747G>A; p.E2583K; 12:101383131-101383131	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.404C>T; p.S135L; 12:101286398-101286398	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.404C>T; p.S135L; 12:101286398-101286398	skin	malignant_melanoma	Substitution - Missense
c.611A>G; p.N204S; 12:101290150-101290150	skin	malignant_melanoma	Substitution - Missense
c.4236G>A; p.T1412T; 12:101342580-101342580	pancreas	carcinoma	Substitution - coding silent
c.6017G>A; p.R2006Q; 12:101365517-101365517	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.722C>T; p.S241F; 12:101290261-101290261	skin	malignant_melanoma	Substitution - Missense
c.3369G>T; p.L1123L; 12:101329401-101329401	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.5891C>A; p.S1964Y; 12:101363676-101363676	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5784G>A; p.M1928I; 12:101362054-101362054	skin	malignant_melanoma	Substitution - Missense
c.7882C>T; p.R2628W; 12:101383266-101383266	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3268C>T; p.P1090S; 12:101329300-101329300	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5731G>C; p.G1911R; 12:101362001-101362001	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7459T>G; p.F2487V; 12:101379433-101379433	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5265C>T; p.S1755S; 12:101354989-101354989	skin	malignant_melanoma	Substitution - coding silent
c.3887G>A; p.G1296E; 12:101338831-101338831	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8236A>G; p.K2746E; 12:101386001-101386001	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1909A>C; p.N637H; 12:101306042-101306042	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.5014C>T; p.L1672L; 12:101352184-101352184	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3142A>G; p.T1048A; 12:101327181-101327181	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4117A>G; p.I1373V; 12:101342461-101342461	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.6010T>G; p.L2004V; 12:101365510-101365510	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5638delT; p.F1880fs*6; 12:101357029-101357029	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.8027_8028GG>AA; p.R2676Q; 12:101383640-101383641	skin	malignant_melanoma	Substitution - Missense
c.7995G>A; p.P2665P; 12:101383608-101383608	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2325G>T; p.Q775H; 12:101312049-101312049	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3196C>T; p.H1066Y; 12:101327235-101327235	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.799A>T; p.M267L; 12:101290796-101290796	pancreas	carcinoma	Substitution - Missense
c.1850G>A; p.G617D; 12:101305983-101305983	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5001G>C; p.Q1667H; 12:101352171-101352171	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2800G>A; p.E934K; 12:101319606-101319606	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5958+9G>A; p.?; 12:101363752-101363752	stomach	carcinoma; adenocarcinoma	Unknown
c.6397G>A; p.A2133T; 12:101369733-101369733	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7022C>T; p.T2341M; 12:101373658-101373658	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1513A>G; p.K505E; 12:101299764-101299764	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3362A>G; p.Q1121R; 12:101329394-101329394	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.6416G>A; p.W2139*; 12:101369752-101369752	skin	malignant_melanoma	Substitution - Nonsense
c.452C>G; p.S151W; 12:101286446-101286446	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7183G>C; p.E2395Q; 12:101374859-101374859	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.168A>G; p.R56R; 12:101285611-101285611	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.7031A>G; p.K2344R; 12:101373667-101373667	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5659G>A; p.E1887K; 12:101357050-101357050	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6039A>C; p.V2013V; 12:101365539-101365539	skin	malignant_melanoma	Substitution - coding silent
c.5215C>T; p.P1739S; 12:101354939-101354939	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3263T>G; p.V1088G; 12:101329295-101329295	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5306A>T; p.K1769M; 12:101355030-101355030	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.5905G>A; p.G1969S; 12:101363690-101363690	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2014C>T; p.R672W; 12:101308203-101308203	prostate	carcinoma	Substitution - Missense
c.225C>T; p.C75C; 12:101285780-101285780	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5708T>G; p.F1903C; 12:101361978-101361978	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1344G>A; p.K448K; 12:101295572-101295572	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2119G>A; p.V707I; 12:101308308-101308308	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4694C>T; p.T1565I; 12:101345642-101345642	skin	malignant_melanoma	Substitution - Missense
c.7660G>T; p.V2554F; 12:101383044-101383044	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.7660G>T; p.V2554F; 12:101383044-101383044	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.7660G>T; p.V2554F; 12:101383044-101383044	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.7953C>T; p.L2651L; 12:101383566-101383566	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2532G>A; p.P844P; 12:101312256-101312256	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4711G>T; p.E1571*; 12:101345659-101345659	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1136C>T; p.S379F; 12:101292067-101292067	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6939G>A; p.T2313T; 12:101373461-101373461	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.382G>C; p.E128Q; 12:101286376-101286376	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.4062G>A; p.T1354T; 12:101340571-101340571	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2124G>C; p.Q708H; 12:101308313-101308313	urinary_tract; bladder	carcinoma	Substitution - Missense
c.7756G>A; p.E2586K; 12:101383140-101383140	breast	carcinoma	Substitution - Missense
c.5455G>A; p.V1819I; 12:101356614-101356614	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6894C>T; p.T2298T; 12:101373416-101373416	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6339T>A; p.P2113P; 12:101367931-101367931	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3219T>G; p.H1073Q; 12:101329251-101329251	kidney	other; neoplasm	Substitution - Missense
c.4020C>A; p.S1340R; 12:101340529-101340529	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3101C>T; p.S1034L; 12:101327140-101327140	skin	malignant_melanoma	Substitution - Missense
c.3629G>A; p.S1210N; 12:101334492-101334492	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4084C>T; p.R1362C; 12:101340593-101340593	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2164C>T; p.R722C; 12:101309772-101309772	skin	malignant_melanoma	Substitution - Missense
c.2164C>T; p.R722C; 12:101309772-101309772	skin	malignant_melanoma	Substitution - Missense
c.2164C>T; p.R722C; 12:101309772-101309772	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2164C>T; p.R722C; 12:101309772-101309772	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2300C>A; p.A767D; 12:101311787-101311787	breast	carcinoma	Substitution - Missense
c.2356G>T; p.D786Y; 12:101312080-101312080	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2164C>T; p.R722C; 12:101309772-101309772	skin	malignant_melanoma	Substitution - Missense
c.6098A>G; p.N2033S; 12:101365598-101365598	pancreas	carcinoma	Substitution - Missense
c.2164C>T; p.R722C; 12:101309772-101309772	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7717G>A; p.D2573N; 12:101383101-101383101	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1302T>C; p.D434D; 12:101295530-101295530	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6749A>T; p.K2250M; 12:101371119-101371119	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2212C>T; p.P738S; 12:101309820-101309820	skin	malignant_melanoma	Substitution - Missense
c.2212C>T; p.P738S; 12:101309820-101309820	skin	malignant_melanoma	Substitution - Missense
c.1045T>A; p.S349T; 12:101291976-101291976	thyroid	carcinoma	Substitution - Missense
c.2212C>T; p.P738S; 12:101309820-101309820	skin	malignant_melanoma	Substitution - Missense
c.4823C>A; p.S1608Y; 12:101346527-101346527	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.476T>C; p.L159P; 12:101286470-101286470	breast	carcinoma	Substitution - Missense
c.7355T>C; p.I2452T; 12:101375715-101375715	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7191T>C; p.V2397V; 12:101374867-101374867	skin	malignant_melanoma	Substitution - coding silent
c.3392C>T; p.S1131L; 12:101329424-101329424	breast	carcinoma	Substitution - Missense
c.1932G>A; p.K644K; 12:101306065-101306065	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4572G>T; p.E1524D; 12:101344717-101344717	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7957G>A; p.A2653T; 12:101383570-101383570	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5470G>A; p.A1824T; 12:101356629-101356629	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1382C>T; p.S461L; 12:101295610-101295610	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7132C>T; p.R2378C; 12:101374808-101374808	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2969A>C; p.H990P; 12:101321557-101321557	bone; pelvis	chondrosarcoma	Substitution - Missense
c.3095C>A; p.S1032Y; 12:101327134-101327134	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.614C>A; p.A205E; 12:101290153-101290153	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5194A>G; p.S1732G; 12:101354918-101354918	breast	carcinoma	Substitution - Missense
c.7806C>T; p.D2602D; 12:101383190-101383190	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4934A>G; p.K1645R; 12:101352104-101352104	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4934A>G; p.K1645R; 12:101352104-101352104	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4934A>G; p.K1645R; 12:101352104-101352104	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1747T>G; p.L583V; 12:101302519-101302519	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6924C>T; p.A2308A; 12:101373446-101373446	skin	malignant_melanoma	Substitution - coding silent
c.7502A>G; p.Q2501R; 12:101379476-101379476	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5477C>A; p.A1826D; 12:101356636-101356636	skin; trunk	malignant_melanoma	Substitution - Missense
c.7960G>A; p.V2654I; 12:101383573-101383573	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.145T>G; p.F49V; 12:101285588-101285588	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.265G>T; p.V89F; 12:101285820-101285820	urinary_tract; bladder	carcinoma	Substitution - Missense
c.7455G>T; p.Q2485H; 12:101379429-101379429	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.97C>T; p.R33W; 12:101281167-101281167	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1474G>A; p.E492K; 12:101299725-101299725	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1474G>A; p.E492K; 12:101299725-101299725	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5286C>A; p.V1762V; 12:101355010-101355010	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1086G>T; p.W362C; 12:101292017-101292017	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1617C>G; p.L539L; 12:101300003-101300003	breast	carcinoma	Substitution - coding silent
c.3423G>A; p.Q1141Q; 12:101333306-101333306	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3580G>C; p.E1194Q; 12:101334443-101334443	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4981C>A; p.H1661N; 12:101352151-101352151	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3586C>T; p.Q1196*; 12:101334449-101334449	pancreas	carcinoma	Substitution - Nonsense
c.2691C>T; p.P897P; 12:101317616-101317616	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1347C>A; p.L449L; 12:101295575-101295575	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.6913G>A; p.E2305K; 12:101373435-101373435	skin	malignant_melanoma	Substitution - Missense
c.6459G>A; p.E2153E; 12:101369795-101369795	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.7525A>G; p.K2509E; 12:101379499-101379499	liver	carcinoma	Substitution - Missense
c.7525A>G; p.K2509E; 12:101379499-101379499	liver	carcinoma	Substitution - Missense
c.7525A>G; p.K2509E; 12:101379499-101379499	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.7651G>T; p.E2551*; 12:101381206-101381206	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.6139C>T; p.P2047S; 12:101366571-101366571	urinary_tract; bladder	carcinoma	Substitution - Missense
c.7078G>A; p.E2360K; 12:101373714-101373714	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3754G>A; p.V1252I; 12:101338163-101338163	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2739G>T; p.K913N; 12:101319545-101319545	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.144T>C; p.F48F; 12:101285587-101285587	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6963G>C; p.E2321D; 12:101373599-101373599	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2050C>T; p.L684F; 12:101308239-101308239	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1402C>T; p.P468S; 12:101295630-101295630	skin; neck	malignant_melanoma	Substitution - Missense
c.6706C>T; p.L2236L; 12:101371076-101371076	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.4418C>T; p.P1473L; 12:101343062-101343062	skin	malignant_melanoma	Substitution - Missense
c.1048C>T; p.Q350*; 12:101291979-101291979	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.192C>T; p.F64F; 12:101285635-101285635	skin	malignant_melanoma	Substitution - coding silent
c.1451A>T; p.K484M; 12:101299702-101299702	skin	malignant_melanoma	Substitution - Missense
c.6222G>A; p.V2074V; 12:101366654-101366654	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4727A>G; p.E1576G; 12:101345675-101345675	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3990T>C; p.S1330S; 12:101338934-101338934	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1293C>A; p.F431L; 12:101295521-101295521	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.873_874insT; p.E294fs*1; 12:101290870-101290871	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.5425A>G; p.K1809E; 12:101356584-101356584	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2102A>T; p.K701I; 12:101308291-101308291	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2587C>A; p.P863T; 12:101317512-101317512	skin	malignant_melanoma	Substitution - Missense
c.4237G>A; p.V1413I; 12:101342581-101342581	NS	malignant_melanoma	Substitution - Missense
c.2726G>A; p.R909K; 12:101317651-101317651	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1066A>C; p.S356R; 12:101291997-101291997	ovary	other; neoplasm	Substitution - Missense
c.5074G>A; p.E1692K; 12:101353096-101353096	skin	malignant_melanoma	Substitution - Missense
c.1712T>G; p.L571R; 12:101302484-101302484	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3278G>A; p.R1093H; 12:101329310-101329310	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3278G>A; p.R1093H; 12:101329310-101329310	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.760C>A; p.L254I; 12:101290757-101290757	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3541C>T; p.H1181Y; 12:101333424-101333424	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.571G>C; p.E191Q; 12:101289015-101289015	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5165A>G; p.D1722G; 12:101354889-101354889	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4198G>A; p.V1400I; 12:101342542-101342542	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.872C>A; p.T291K; 12:101290869-101290869	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7595_7596delTC; p.L2534fs*21; 12:101381150-101381151	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.6345G>T; p.V2115V; 12:101367937-101367937	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4290T>C; p.V1430V; 12:101342831-101342831	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6948+5T>A; p.?; 12:101373475-101373475	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Unknown
c.891A>G; p.Q297Q; 12:101290888-101290888	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1137C>T; p.S379S; 12:101292068-101292068	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2198G>A; p.S733N; 12:101309806-101309806	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.6051G>A; p.M2017I; 12:101365551-101365551	skin	malignant_melanoma	Substitution - Missense
c.1567G>A; p.V523M; 12:101299818-101299818	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.7496T>C; p.L2499P; 12:101379470-101379470	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1228T>C; p.F410L; 12:101293222-101293222	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.826A>G; p.M276V; 12:101290823-101290823	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1911C>T; p.N637N; 12:101306044-101306044	breast	carcinoma	Substitution - coding silent
c.4985T>C; p.V1662A; 12:101352155-101352155	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3890G>T; p.R1297I; 12:101338834-101338834	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6955C>G; p.L2319V; 12:101373591-101373591	pancreas	carcinoma	Substitution - Missense
c.6087G>C; p.L2029F; 12:101365587-101365587	kidney	other; neoplasm	Substitution - Missense
c.3339C>T; p.S1113S; 12:101329371-101329371	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1173A>G; p.K391K; 12:101292104-101292104	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.8074C>A; p.L2692I; 12:101385600-101385600	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3189T>A; p.P1063P; 12:101327228-101327228	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2231+2T>C; p.?; 12:101309841-101309841	liver	carcinoma	Unknown
c.2231+2T>C; p.?; 12:101309841-101309841	liver	carcinoma	Unknown
c.983T>C; p.I328T; 12:101291833-101291833	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2134C>G; p.P712A; 12:101308323-101308323	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.983T>C; p.I328T; 12:101291833-101291833	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.858G>T; p.K286N; 12:101290855-101290855	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6285G>A; p.L2095L; 12:101367877-101367877	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5659G>T; p.E1887*; 12:101357050-101357050	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3127C>T; p.R1043W; 12:101327166-101327166	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7883G>A; p.R2628Q; 12:101383267-101383267	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5142G>T; p.E1714D; 12:101354866-101354866	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2461A>G; p.R821G; 12:101312185-101312185	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1506T>A; p.S502S; 12:101299757-101299757	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3056G>A; p.R1019Q; 12:101327095-101327095	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3497G>T; p.W1166L; 12:101333380-101333380	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5527C>G; p.L1843V; 12:101356686-101356686	central_nervous_system; brain	glioma	Substitution - Missense
c.3750T>C; p.S1250S; 12:101338159-101338159	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7615C>G; p.Q2539E; 12:101381170-101381170	pancreas	carcinoma	Substitution - Missense
c.2552+10C>T; p.?; 12:101312286-101312286	pancreas	carcinoma	Unknown
c.3860A>G; p.N1287S; 12:101338269-101338269	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6324G>A; p.L2108L; 12:101367916-101367916	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1444C>T; p.Q482*; 12:101299695-101299695	autonomic_ganglia	neuroblastoma	Substitution - Nonsense
c.649C>T; p.H217Y; 12:101290188-101290188	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.6258C>T; p.S2086S; 12:101366690-101366690	pancreas	carcinoma	Substitution - coding silent
c.5276_5280delCAAAG; p.K1760fs*16; 12:101355000-101355004	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.6691A>G; p.I2231V; 12:101371061-101371061	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1168G>C; p.E390Q; 12:101292099-101292099	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.430T>A; p.L144M; 12:101286424-101286424	skin	malignant_melanoma	Substitution - Missense
c.4933A>G; p.K1645E; 12:101352103-101352103	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5992C>T; p.R1998W; 12:101365492-101365492	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5587G>A; p.D1863N; 12:101356978-101356978	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.5885A>G; p.Y1962C; 12:101363670-101363670	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6562A>G; p.T2188A; 12:101370438-101370438	ovary	other; neoplasm	Substitution - Missense
c.1505C>G; p.S502C; 12:101299756-101299756	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1505C>G; p.S502C; 12:101299756-101299756	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1660G>A; p.G554R; 12:101300046-101300046	skin	malignant_melanoma	Substitution - Missense
c.6853T>C; p.L2285L; 12:101372938-101372938	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.6973A>T; p.M2325L; 12:101373609-101373609	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4759G>A; p.A1587T; 12:101346463-101346463	skin	malignant_melanoma	Substitution - Missense
c.6445G>T; p.E2149*; 12:101369781-101369781	autonomic_ganglia	neuroblastoma	Substitution - Nonsense
c.2118G>A; p.V706V; 12:101308307-101308307	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4952C>T; p.A1651V; 12:101352122-101352122	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.427G>C; p.E143Q; 12:101286421-101286421	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6723C>T; p.I2241I; 12:101371093-101371093	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2501G>C; p.R834T; 12:101312225-101312225	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5725C>T; p.L1909L; 12:101361995-101361995	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5725C>T; p.L1909L; 12:101361995-101361995	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.6723C>T; p.I2241I; 12:101371093-101371093	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1383G>T; p.S461S; 12:101295611-101295611	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.8284G>C; p.E2762Q; 12:101386049-101386049	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4061C>T; p.T1354M; 12:101340570-101340570	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5454C>T; p.V1818V; 12:101356613-101356613	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5886C>G; p.Y1962*; 12:101363671-101363671	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.4051G>T; p.V1351L; 12:101340560-101340560	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.904G>A; p.D302N; 12:101291754-101291754	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6949-1G>C; p.?; 12:101373584-101373584	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Unknown
c.3009C>T; p.A1003A; 12:101321597-101321597	skin	malignant_melanoma	Substitution - coding silent
c.6363C>T; p.C2121C; 12:101367955-101367955	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4578G>C; p.L1526F; 12:101344723-101344723	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6495C>T; p.D2165D; 12:101369831-101369831	skin	malignant_melanoma	Substitution - coding silent
c.3340G>A; p.A1114T; 12:101329372-101329372	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3340G>A; p.A1114T; 12:101329372-101329372	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6869C>T; p.A2290V; 12:101372954-101372954	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4124T>G; p.V1375G; 12:101342468-101342468	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7354A>T; p.I2452F; 12:101375714-101375714	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.4124T>G; p.V1375G; 12:101342468-101342468	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5158C>T; p.R1720C; 12:101354882-101354882	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.7585A>G; p.M2529V; 12:101381140-101381140	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1479G>A; p.Q493Q; 12:101299730-101299730	breast	carcinoma	Substitution - coding silent
c.7381T>C; p.L2461L; 12:101375741-101375741	liver	carcinoma	Substitution - coding silent
c.6489G>A; p.L2163L; 12:101369825-101369825	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7885A>T; p.I2629F; 12:101383269-101383269	liver	carcinoma	Substitution - Missense
c.7885A>T; p.I2629F; 12:101383269-101383269	liver	carcinoma	Substitution - Missense
c.245T>C; p.V82A; 12:101285800-101285800	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2557G>C; p.E853Q; 12:101317482-101317482	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5499C>T; p.S1833S; 12:101356658-101356658	skin	malignant_melanoma	Substitution - coding silent
c.4308C>T; p.F1436F; 12:101342952-101342952	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5781A>G; p.I1927M; 12:101362051-101362051	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4308C>T; p.F1436F; 12:101342952-101342952	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4171C>A; p.L1391I; 12:101342515-101342515	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6377A>G; p.D2126G; 12:101367969-101367969	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5361T>C; p.I1787I; 12:101355085-101355085	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3733T>G; p.S1245A; 12:101338142-101338142	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5361T>C; p.I1787I; 12:101355085-101355085	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2702C>T; p.S901F; 12:101317627-101317627	skin	malignant_melanoma	Substitution - Missense
c.1833G>A; p.Q611Q; 12:101305966-101305966	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1591C>G; p.L531V; 12:101299977-101299977	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2712G>T; p.K904N; 12:101317637-101317637	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1833G>A; p.Q611Q; 12:101305966-101305966	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.6210G>T; p.Q2070H; 12:101366642-101366642	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4870G>C; p.E1624Q; 12:101346574-101346574	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.719A>G; p.H240R; 12:101290258-101290258	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7839C>T; p.L2613L; 12:101383223-101383223	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6108G>C; p.L2036L; 12:101365608-101365608	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4700A>G; p.Y1567C; 12:101345648-101345648	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3055C>T; p.R1019*; 12:101327094-101327094	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5458C>T; p.R1820*; 12:101356617-101356617	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3055C>T; p.R1019*; 12:101327094-101327094	large_intestine; colon	carcinoma	Substitution - Nonsense
c.5458C>T; p.R1820*; 12:101356617-101356617	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3055C>T; p.R1019*; 12:101327094-101327094	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.709A>G; p.N237D; 12:101290248-101290248	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3760G>A; p.D1254N; 12:101338169-101338169	skin	malignant_melanoma	Substitution - Missense
c.4342G>A; p.V1448I; 12:101342986-101342986	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4342G>A; p.V1448I; 12:101342986-101342986	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.56T>G; p.F19C; 12:101281126-101281126	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.385delT; p.L131fs*1; 12:101286379-101286379	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.385delT; p.L131fs*1; 12:101286379-101286379	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.385delT; p.L131fs*1; 12:101286379-101286379	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.385delT; p.L131fs*1; 12:101286379-101286379	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.385delT; p.L131fs*1; 12:101286379-101286379	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3486C>A; p.I1162I; 12:101333369-101333369	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5555C>T; p.A1852V; 12:101356946-101356946	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3977G>C; p.R1326T; 12:101338921-101338921	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4623T>G; p.Y1541*; 12:101345571-101345571	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.385delT; p.L131fs*1; 12:101286379-101286379	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1819G>A; p.D607N; 12:101305952-101305952	breast	carcinoma	Substitution - Missense
c.1192G>A; p.E398K; 12:101293186-101293186	urinary_tract; bladder	carcinoma	Substitution - Missense
c.787C>G; p.Q263E; 12:101290784-101290784	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6673T>G; p.F2225V; 12:101370549-101370549	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6696A>G; p.L2232L; 12:101371066-101371066	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5527C>T; p.L1843L; 12:101356686-101356686	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7886T>G; p.I2629S; 12:101383270-101383270	thyroid	carcinoma	Substitution - Missense
c.5762T>C; p.L1921S; 12:101362032-101362032	skin	malignant_melanoma	Substitution - Missense
c.7077C>T; p.L2359L; 12:101373713-101373713	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6970G>A; p.G2324R; 12:101373606-101373606	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5770T>C; p.C1924R; 12:101362040-101362040	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.941A>G; p.E314G; 12:101291791-101291791	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2745A>C; p.L915F; 12:101319551-101319551	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5905G>C; p.G1969R; 12:101363690-101363690	breast	carcinoma	Substitution - Missense
c.286C>G; p.L96V; 12:101285841-101285841	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5596C>T; p.R1866C; 12:101356987-101356987	breast	carcinoma	Substitution - Missense
c.2637C>T; p.I879I; 12:101317562-101317562	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.540_541insA; p.L183fs*9; 12:101288984-101288985	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.5596C>T; p.R1866C; 12:101356987-101356987	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3039G>A; p.M1013I; 12:101321627-101321627	skin	malignant_melanoma	Substitution - Missense
c.2637C>T; p.I879I; 12:101317562-101317562	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5924A>G; p.D1975G; 12:101363709-101363709	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5560C>A; p.L1854I; 12:101356951-101356951	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4696C>A; p.H1566N; 12:101345644-101345644	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2080G>A; p.E694K; 12:101308269-101308269	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.5236G>T; p.D1746Y; 12:101354960-101354960	pancreas	carcinoma	Substitution - Missense
c.6831G>A; p.L2277L; 12:101372916-101372916	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6394G>T; p.G2132C; 12:101369730-101369730	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4995G>A; p.T1665T; 12:101352165-101352165	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.4628C>T; p.T1543I; 12:101345576-101345576	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6199C>T; p.R2067*; 12:101366631-101366631	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1564C>A; p.L522I; 12:101299815-101299815	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6013C>T; p.R2005C; 12:101365513-101365513	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4663C>T; p.Q1555*; 12:101345611-101345611	skin	malignant_melanoma	Substitution - Nonsense
c.3908T>C; p.V1303A; 12:101338852-101338852	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3697A>T; p.T1233S; 12:101338106-101338106	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7607C>A; p.S2536Y; 12:101381162-101381162	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4559G>T; p.R1520L; 12:101344704-101344704	liver	carcinoma	Substitution - Missense
c.2584G>T; p.A862S; 12:101317509-101317509	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6878+8T>G; p.?; 12:101372971-101372971	liver	carcinoma	Unknown
c.6878+8T>G; p.?; 12:101372971-101372971	liver	carcinoma	Unknown
c.7854G>A; p.T2618T; 12:101383238-101383238	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4437C>A; p.F1479L; 12:101343081-101343081	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7682C>T; p.A2561V; 12:101383066-101383066	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.413A>G; p.E138G; 12:101286407-101286407	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.7587G>C; p.M2529I; 12:101381142-101381142	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.686T>G; p.F229C; 12:101290225-101290225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2165G>A; p.R722H; 12:101309773-101309773	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7750G>A; p.E2584K; 12:101383134-101383134	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1936C>T; p.R646W; 12:101306702-101306702	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3778C>T; p.L1260F; 12:101338187-101338187	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.5159G>C; p.R1720P; 12:101354883-101354883	breast	carcinoma	Substitution - Missense
c.2348C>T; p.S783F; 12:101312072-101312072	skin; neck	malignant_melanoma	Substitution - Missense
c.5155G>A; p.E1719K; 12:101354879-101354879	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4332C>G; p.I1444M; 12:101342976-101342976	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3275G>T; p.G1092V; 12:101329307-101329307	breast	carcinoma	Substitution - Missense
c.3722C>T; p.A1241V; 12:101338131-101338131	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1773T>A; p.N591K; 12:101302545-101302545	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]