Entrez Gene

Basic Information
Gene ID	23036
Name	ZNF292
Synonymous	zinc finger protein 292;ZNF292;zinc finger protein 292
Definition	16 zinc-finger domain protein\|putative protein product of Nbla00365
Position	6q14.3
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 0.19.

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.7172delA; p.N2393fs*21; 6:87261236-87261236	pancreas	carcinoma; acinar_carcinoma	Deletion - Frameshift
c.4927C>G; p.Q1643E; 6:87258991-87258991	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7172delA; p.N2393fs*21; 6:87261236-87261236	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.6541G>C; p.E2181Q; 6:87260605-87260605	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1081G>T; p.G361C; 6:87255145-87255145	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.882A>G; p.Q294Q; 6:87254946-87254946	kidney	other; neoplasm	Substitution - coding silent
c.6638C>A; p.S2213Y; 6:87260702-87260702	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.121T>G; p.F41V; 6:87233342-87233342	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3390C>T; p.F1130F; 6:87257454-87257454	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2654C>T; p.T885I; 6:87256718-87256718	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4007G>T; p.S1336I; 6:87258071-87258071	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3994A>G; p.N1332D; 6:87258058-87258058	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3390C>T; p.F1130F; 6:87257454-87257454	skin	malignant_melanoma	Substitution - coding silent
c.4189C>T; p.H1397Y; 6:87258253-87258253	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3462A>G; p.S1154S; 6:87257526-87257526	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6032C>T; p.A2011V; 6:87260096-87260096	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.692C>T; p.S231L; 6:87254756-87254756	skin	malignant_melanoma	Substitution - Missense
c.4637A>C; p.N1546T; 6:87258701-87258701	breast	carcinoma	Substitution - Missense
c.5902C>A; p.P1968T; 6:87259966-87259966	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.770C>T; p.A257V; 6:87254834-87254834	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5838_5839insA; p.R1949fs*10; 6:87259902-87259903	breast	carcinoma	Insertion - Frameshift
c.2524C>T; p.Q842*; 6:87256588-87256588	breast	carcinoma	Substitution - Nonsense
c.27delT; p.L11fs*1; 6:87218640-87218640	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.6544G>T; p.G2182*; 6:87260608-87260608	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7205T>C; p.V2402A; 6:87261269-87261269	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.27delT; p.L11fs*1; 6:87218640-87218640	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5270T>G; p.F1757C; 6:87259334-87259334	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.817G>A; p.D273N; 6:87254881-87254881	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1058C>A; p.S353Y; 6:87255122-87255122	breast	carcinoma	Substitution - Missense
c.3042A>G; p.S1014S; 6:87257106-87257106	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.925C>T; p.R309*; 6:87254989-87254989	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.5371G>A; p.E1791K; 6:87259435-87259435	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6536G>T; p.G2179V; 6:87260600-87260600	skin	malignant_melanoma	Substitution - Missense
c.6082C>T; p.R2028*; 6:87260146-87260146	skin	malignant_melanoma	Substitution - Nonsense
c.2428G>T; p.E810*; 6:87256492-87256492	autonomic_ganglia	neuroblastoma	Substitution - Nonsense
c.6082C>T; p.R2028*; 6:87260146-87260146	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6082C>T; p.R2028*; 6:87260146-87260146	breast	carcinoma	Substitution - Nonsense
c.2614A>G; p.T872A; 6:87256678-87256678	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5244A>G; p.Q1748Q; 6:87259308-87259308	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5975C>T; p.A1992V; 6:87260039-87260039	skin	malignant_melanoma	Substitution - Missense
c.6622G>T; p.E2208*; 6:87260686-87260686	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.6622G>T; p.E2208*; 6:87260686-87260686	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.6923C>T; p.T2308M; 6:87260987-87260987	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6832C>G; p.L2278V; 6:87260896-87260896	skin	malignant_melanoma	Substitution - Missense
c.6300A>G; p.L2100L; 6:87260364-87260364	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5909G>A; p.R1970Q; 6:87259973-87259973	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5225C>T; p.S1742F; 6:87259289-87259289	skin	malignant_melanoma	Substitution - Missense
c.4772G>T; p.C1591F; 6:87258836-87258836	oesophagus	carcinoma	Substitution - Missense
c.7304C>T; p.S2435F; 6:87261368-87261368	skin	malignant_melanoma	Substitution - Missense
c.5909G>A; p.R1970Q; 6:87259973-87259973	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5966A>G; p.H1989R; 6:87260030-87260030	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3451C>T; p.H1151Y; 6:87257515-87257515	NS	malignant_melanoma	Substitution - Missense
c.3356C>T; p.P1119L; 6:87257420-87257420	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.933T>A; p.C311*; 6:87254997-87254997	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4404G>A; p.Q1468Q; 6:87258468-87258468	breast	carcinoma	Substitution - coding silent
c.5234T>G; p.I1745R; 6:87259298-87259298	pancreas	carcinoma	Substitution - Missense
c.5234T>G; p.I1745R; 6:87259298-87259298	pancreas	carcinoma	Substitution - Missense
c.3981A>T; p.R1327R; 6:87258045-87258045	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.5119_5120insT; p.D1707fs*24; 6:87259183-87259184	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Insertion - Frameshift
c.5234T>G; p.I1745R; 6:87259298-87259298	pancreas	carcinoma	Substitution - Missense
c.6983T>A; p.V2328D; 6:87261047-87261047	thyroid	other; neoplasm	Substitution - Missense
c.5858delT; p.S1954fs*33; 6:87259922-87259922	thyroid	carcinoma; medullary_carcinoma	Deletion - Frameshift
c.3441T>C; p.N1147N; 6:87257505-87257505	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6288C>T; p.H2096H; 6:87260352-87260352	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1857C>T; p.Y619Y; 6:87255921-87255921	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6239C>G; p.S2080C; 6:87260303-87260303	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7517T>G; p.F2506C; 6:87261581-87261581	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6191C>T; p.A2064V; 6:87260255-87260255	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4097A>G; p.H1366R; 6:87258161-87258161	breast	carcinoma	Substitution - Missense
c.3062C>T; p.P1021L; 6:87257126-87257126	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3727A>G; p.R1243G; 6:87257791-87257791	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2894A>G; p.N965S; 6:87256958-87256958	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.434A>G; p.Y145C; 6:87243602-87243602	breast	carcinoma	Substitution - Missense
c.278C>T; p.S93L; 6:87233499-87233499	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6069_6070delTT; p.L2024fs*9; 6:87260133-87260134	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4142C>T; p.T1381M; 6:87258206-87258206	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2316G>T; p.L772F; 6:87256380-87256380	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4783A>C; p.I1595L; 6:87258847-87258847	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4142C>T; p.T1381M; 6:87258206-87258206	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1213G>T; p.E405*; 6:87255277-87255277	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6586T>C; p.L2196L; 6:87260650-87260650	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1015G>C; p.D339H; 6:87255079-87255079	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.7638C>T; p.T2546T; 6:87261702-87261702	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6519C>G; p.T2173T; 6:87260583-87260583	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2488G>T; p.E830*; 6:87256552-87256552	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.5922G>T; p.Q1974H; 6:87259986-87259986	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.613A>G; p.I205V; 6:87254677-87254677	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3390_3391CC>TT; p.P1131S; 6:87257454-87257455	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.613A>G; p.I205V; 6:87254677-87254677	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5303C>A; p.A1768D; 6:87259367-87259367	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5965C>T; p.H1989Y; 6:87260029-87260029	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1989T>G; p.T663T; 6:87256053-87256053	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4726delT; p.L1576fs*1; 6:87258790-87258790	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5000T>G; p.F1667C; 6:87259064-87259064	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5382G>T; p.K1794N; 6:87259446-87259446	breast	carcinoma	Substitution - Missense
c.4976A>G; p.N1659S; 6:87259040-87259040	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4783A>G; p.I1595V; 6:87258847-87258847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2400G>C; p.Q800H; 6:87256464-87256464	skin	malignant_melanoma	Substitution - Missense
c.65A>C; p.K22T; 6:87218678-87218678	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4994C>T; p.S1665F; 6:87259058-87259058	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6942T>G; p.N2314K; 6:87261006-87261006	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4674_4675delAG; p.N1560fs*6; 6:87258738-87258739	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3498delG; p.G1168fs*12; 6:87257562-87257562	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2344A>G; p.T782A; 6:87256408-87256408	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4981T>G; p.L1661V; 6:87259045-87259045	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4805C>T; p.S1602F; 6:87258869-87258869	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4805C>T; p.S1602F; 6:87258869-87258869	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5567G>T; p.R1856L; 6:87259631-87259631	oesophagus	carcinoma	Substitution - Missense
c.1216T>G; p.F406V; 6:87255280-87255280	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1237C>T; p.R413*; 6:87255301-87255301	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5947C>G; p.Q1983E; 6:87260011-87260011	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1722_1723insA; p.V577fs*7; 6:87255786-87255787	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3983C>T; p.S1328F; 6:87258047-87258047	skin	malignant_melanoma	Substitution - Missense
c.1938G>A; p.S646S; 6:87256002-87256002	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6632C>T; p.P2211L; 6:87260696-87260696	skin	malignant_melanoma	Substitution - Missense
c.5968T>C; p.Y1990H; 6:87260032-87260032	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3196A>G; p.I1066V; 6:87257260-87257260	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2020C>T; p.R674C; 6:87256084-87256084	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.563T>C; p.L188P; 6:87245622-87245622	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3709A>G; p.R1237G; 6:87257773-87257773	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2752T>G; p.L918V; 6:87256816-87256816	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3925C>A; p.L1309I; 6:87257989-87257989	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7600G>T; p.E2534*; 6:87261664-87261664	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3693C>A; p.I1231I; 6:87257757-87257757	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.791T>A; p.L264*; 6:87254855-87254855	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3220G>T; p.D1074Y; 6:87257284-87257284	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5753_5754insT; p.S1919fs*5; 6:87259817-87259818	skin; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.4489A>G; p.N1497D; 6:87258553-87258553	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3201T>C; p.N1067N; 6:87257265-87257265	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3050A>G; p.N1017S; 6:87257114-87257114	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1487A>G; p.Y496C; 6:87255551-87255551	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5701_5702insAA; p.S1904fs*12; 6:87259765-87259766	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.4224G>A; p.T1408T; 6:87258288-87258288	pancreas	carcinoma	Substitution - coding silent
c.6700A>G; p.T2234A; 6:87260764-87260764	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7301C>T; p.A2434V; 6:87261365-87261365	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3815G>A; p.G1272E; 6:87257879-87257879	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2182C>T; p.P728S; 6:87256246-87256246	skin	malignant_melanoma	Substitution - Missense
c.6646C>T; p.R2216C; 6:87260710-87260710	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2598C>T; p.L866L; 6:87256662-87256662	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6861C>A; p.N2287K; 6:87260925-87260925	liver	carcinoma	Substitution - Missense
c.6861C>A; p.N2287K; 6:87260925-87260925	liver	carcinoma	Substitution - Missense
c.4925C>T; p.A1642V; 6:87258989-87258989	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6285C>T; p.D2095D; 6:87260349-87260349	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.6427C>A; p.H2143N; 6:87260491-87260491	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3151T>C; p.L1051L; 6:87257215-87257215	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1462C>T; p.R488*; 6:87255526-87255526	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5804G>A; p.R1935Q; 6:87259868-87259868	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1462C>T; p.R488*; 6:87255526-87255526	liver	carcinoma	Substitution - Nonsense
c.1462C>T; p.R488*; 6:87255526-87255526	liver	carcinoma	Substitution - Nonsense
c.1462C>T; p.R488*; 6:87255526-87255526	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5955C>T; p.N1985N; 6:87260019-87260019	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5955C>T; p.N1985N; 6:87260019-87260019	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.525T>C; p.L175L; 6:87245584-87245584	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4556T>C; p.I1519T; 6:87258620-87258620	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3679G>T; p.D1227Y; 6:87257743-87257743	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5064G>A; p.K1688K; 6:87259128-87259128	liver	carcinoma	Substitution - coding silent
c.5064G>A; p.K1688K; 6:87259128-87259128	liver	carcinoma	Substitution - coding silent
c.5064G>A; p.K1688K; 6:87259128-87259128	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.152T>A; p.I51N; 6:87233373-87233373	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.389T>C; p.L130S; 6:87243557-87243557	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.389T>C; p.L130S; 6:87243557-87243557	liver	carcinoma	Substitution - Missense
c.5371G>T; p.E1791*; 6:87259435-87259435	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3351C>A; p.F1117L; 6:87257415-87257415	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.379G>A; p.A127T; 6:87243547-87243547	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6377C>A; p.S2126*; 6:87260441-87260441	breast	carcinoma	Substitution - Nonsense
c.945G>T; p.M315I; 6:87255009-87255009	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1843G>T; p.G615C; 6:87255907-87255907	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2598_2599delCA; p.K867fs*3; 6:87256662-87256663	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.5702delA; p.S1904fs*11; 6:87259766-87259766	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.5702delA; p.S1904fs*11; 6:87259766-87259766	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5702delA; p.S1904fs*11; 6:87259766-87259766	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5702delA; p.S1904fs*11; 6:87259766-87259766	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.5616G>T; p.K1872N; 6:87259680-87259680	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5702delA; p.S1904fs*11; 6:87259766-87259766	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3755G>A; p.R1252Q; 6:87257819-87257819	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2539C>A; p.Q847K; 6:87256603-87256603	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5702delA; p.S1904fs*11; 6:87259766-87259766	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1590A>C; p.P530P; 6:87255654-87255654	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6864A>T; p.S2288S; 6:87260928-87260928	skin	malignant_melanoma	Substitution - coding silent
c.2598_2599delCA; p.K867fs*3; 6:87256662-87256663	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.5702delA; p.S1904fs*11; 6:87259766-87259766	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.175C>T; p.Q59*; 6:87233396-87233396	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.300C>T; p.I100I; 6:87233521-87233521	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4605G>C; p.Q1535H; 6:87258669-87258669	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.7125C>T; p.C2375C; 6:87261189-87261189	skin	malignant_melanoma	Substitution - coding silent
c.6296G>T; p.G2099V; 6:87260360-87260360	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2372C>T; p.A791V; 6:87256436-87256436	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2372C>T; p.A791V; 6:87256436-87256436	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7581G>A; p.K2527K; 6:87261645-87261645	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6162G>T; p.M2054I; 6:87260226-87260226	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2576C>A; p.S859Y; 6:87256640-87256640	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1746T>C; p.C582C; 6:87255810-87255810	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5050G>A; p.E1684K; 6:87259114-87259114	breast	carcinoma	Substitution - Missense
c.1364T>C; p.L455P; 6:87255428-87255428	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6597G>T; p.K2199N; 6:87260661-87260661	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3595delA; p.D1201fs*80; 6:87257659-87257659	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4623A>T; p.L1541L; 6:87258687-87258687	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6511C>T; p.R2171W; 6:87260575-87260575	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6174A>G; p.E2058E; 6:87260238-87260238	liver	carcinoma	Substitution - coding silent
c.2897C>T; p.S966F; 6:87256961-87256961	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.313G>T; p.E105*; 6:87243481-87243481	pancreas	carcinoid-endocrine_tumour	Substitution - Nonsense
c.2039A>G; p.E680G; 6:87256103-87256103	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4663A>G; p.T1555A; 6:87258727-87258727	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4266G>T; p.L1422F; 6:87258330-87258330	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3854A>C; p.N1285T; 6:87257918-87257918	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4651C>T; p.Q1551*; 6:87258715-87258715	pancreas	carcinoma	Substitution - Nonsense
c.5344C>A; p.H1782N; 6:87259408-87259408	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6558C>G; p.P2186P; 6:87260622-87260622	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3021_3024delGTTT; p.V1009fs*7; 6:87257085-87257088	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.4124C>T; p.A1375V; 6:87258188-87258188	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.6107G>A; p.R2036Q; 6:87260171-87260171	breast	carcinoma	Substitution - Missense
c.142G>A; p.D48N; 6:87233363-87233363	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5506A>G; p.K1836E; 6:87259570-87259570	oesophagus	carcinoma	Substitution - Missense
c.2875G>T; p.G959*; 6:87256939-87256939	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7268C>A; p.A2423D; 6:87261332-87261332	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6569G>A; p.R2190Q; 6:87260633-87260633	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5322A>G; p.L1774L; 6:87259386-87259386	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4760C>T; p.A1587V; 6:87258824-87258824	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.6471G>T; p.M2157I; 6:87260535-87260535	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4008T>C; p.S1336S; 6:87258072-87258072	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.6778A>C; p.R2260R; 6:87260842-87260842	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1643A>C; p.K548T; 6:87255707-87255707	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7029T>C; p.F2343F; 6:87261093-87261093	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2515C>G; p.P839A; 6:87256579-87256579	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6482C>A; p.A2161E; 6:87260546-87260546	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1311A>C; p.E437D; 6:87255375-87255375	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3446C>G; p.T1149R; 6:87257510-87257510	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3142C>T; p.P1048S; 6:87257206-87257206	skin	malignant_melanoma	Substitution - Missense
c.3465G>A; p.Q1155Q; 6:87257529-87257529	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2447G>A; p.G816D; 6:87256511-87256511	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.7253A>C; p.K2418T; 6:87261317-87261317	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7277T>G; p.I2426S; 6:87261341-87261341	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2251G>T; p.E751*; 6:87256315-87256315	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1984T>C; p.Y662H; 6:87256048-87256048	prostate	carcinoma	Substitution - Missense
c.6976A>G; p.K2326E; 6:87261040-87261040	thyroid	other; neoplasm	Substitution - Missense
c.7674T>A; p.D2558E; 6:87261738-87261738	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4997C>T; p.P1666L; 6:87259061-87259061	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7347A>G; p.S2449S; 6:87261411-87261411	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1138_1139delAG; p.R382fs*8; 6:87255202-87255203	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2872G>A; p.E958K; 6:87256936-87256936	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6072G>C; p.L2024F; 6:87260136-87260136	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3137delT; p.P1048fs*4; 6:87257201-87257201	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5022G>A; p.M1674I; 6:87259086-87259086	breast	carcinoma	Substitution - Missense
c.3064delT; p.F1023fs*29; 6:87257128-87257128	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.6076G>C; p.E2026Q; 6:87260140-87260140	urinary_tract; bladder	carcinoma	Substitution - Missense
c.627A>G; p.V209V; 6:87254691-87254691	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3555C>T; p.F1185F; 6:87257619-87257619	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.6959C>A; p.T2320K; 6:87261023-87261023	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3758C>T; p.S1253F; 6:87257822-87257822	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.409C>T; p.R137C; 6:87243577-87243577	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7249C>T; p.R2417C; 6:87261313-87261313	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5387A>C; p.Q1796P; 6:87259451-87259451	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.6981A>C; p.E2327D; 6:87261045-87261045	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.6687C>A; p.A2229A; 6:87260751-87260751	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5387A>C; p.Q1796P; 6:87259451-87259451	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3986G>A; p.G1329D; 6:87258050-87258050	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.895C>T; p.P299S; 6:87254959-87254959	central_nervous_system; brain	glioma	Substitution - Missense
c.1062T>G; p.G354G; 6:87255126-87255126	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3610C>G; p.R1204G; 6:87257674-87257674	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.2884C>T; p.R962*; 6:87256948-87256948	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6121A>G; p.I2041V; 6:87260185-87260185	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2948C>A; p.A983D; 6:87257012-87257012	prostate	carcinoma	Substitution - Missense
c.1162C>T; p.R388W; 6:87255226-87255226	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3968_3971delATAC; p.T1324fs*6; 6:87258032-87258035	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Deletion - Frameshift
c.1162C>T; p.R388W; 6:87255226-87255226	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3547A>T; p.N1183Y; 6:87257611-87257611	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3109G>A; p.A1037T; 6:87257173-87257173	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7224A>T; p.A2408A; 6:87261288-87261288	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.6374G>A; p.R2125Q; 6:87260438-87260438	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5461G>T; p.A1821S; 6:87259525-87259525	thyroid	other; neoplasm	Substitution - Missense
c.7224A>T; p.A2408A; 6:87261288-87261288	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.7223C>T; p.A2408V; 6:87261287-87261287	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7683G>T; p.M2561I; 6:87261747-87261747	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1298T>G; p.F433C; 6:87255362-87255362	breast	carcinoma	Substitution - Missense
c.2060G>A; p.S687N; 6:87256124-87256124	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5724_5725delAG; p.E1909fs*14; 6:87259788-87259789	breast	carcinoma	Deletion - Frameshift
c.6373C>T; p.R2125W; 6:87260437-87260437	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5421T>A; p.P1807P; 6:87259485-87259485	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.851G>T; p.R284L; 6:87254915-87254915	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6850C>T; p.R2284W; 6:87260914-87260914	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.926G>T; p.R309L; 6:87254990-87254990	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2117C>T; p.S706F; 6:87256181-87256181	breast	carcinoma	Substitution - Missense
c.1557C>A; p.S519S; 6:87255621-87255621	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1750C>T; p.R584W; 6:87255814-87255814	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4265T>C; p.L1422S; 6:87258329-87258329	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7706T>C; p.I2569T; 6:87261770-87261770	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5072A>G; p.Q1691R; 6:87259136-87259136	liver	carcinoma	Substitution - Missense
c.4162G>A; p.V1388I; 6:87258226-87258226	skin	malignant_melanoma	Substitution - Missense
c.5908C>T; p.R1970*; 6:87259972-87259972	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5908C>T; p.R1970*; 6:87259972-87259972	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1939G>T; p.E647*; 6:87256003-87256003	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5072A>G; p.Q1691R; 6:87259136-87259136	liver	carcinoma	Substitution - Missense
c.2375T>A; p.V792E; 6:87256439-87256439	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2761A>G; p.K921E; 6:87256825-87256825	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5908C>T; p.R1970*; 6:87259972-87259972	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4307A>C; p.E1436A; 6:87258371-87258371	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1489T>G; p.S497A; 6:87255553-87255553	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4271T>A; p.V1424D; 6:87258335-87258335	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1703G>A; p.R568H; 6:87255767-87255767	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1302T>A; p.N434K; 6:87255366-87255366	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1703G>A; p.R568H; 6:87255767-87255767	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6792C>T; p.C2264C; 6:87260856-87260856	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1147G>T; p.G383*; 6:87255211-87255211	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2779G>C; p.A927P; 6:87256843-87256843	central_nervous_system; brain	glioma	Substitution - Missense
c.194C>T; p.A65V; 6:87233415-87233415	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.26_27insT; p.L11fs*27; 6:87218639-87218640	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1566A>G; p.P522P; 6:87255630-87255630	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4461G>T; p.K1487N; 6:87258525-87258525	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6680A>G; p.N2227S; 6:87260744-87260744	skin	malignant_melanoma	Substitution - Missense
c.2788_2789insAAAG; p.P930fs*9; 6:87256852-87256853	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.2788_2789insAAAG; p.P930fs*9; 6:87256852-87256853	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.1235T>A; p.V412E; 6:87255299-87255299	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1485C>G; p.L495L; 6:87255549-87255549	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.72G>A; p.P24P; 6:87218685-87218685	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3754C>T; p.R1252*; 6:87257818-87257818	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6378G>T; p.S2126S; 6:87260442-87260442	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.161T>G; p.L54R; 6:87233382-87233382	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2123A>T; p.Q708L; 6:87256187-87256187	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2149G>T; p.A717S; 6:87256213-87256213	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.445G>A; p.E149K; 6:87245504-87245504	breast	carcinoma	Substitution - Missense
c.7509C>T; p.S2503S; 6:87261573-87261573	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.7681A>T; p.M2561L; 6:87261745-87261745	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6573_6574insA; p.N2194fs*2; 6:87260637-87260638	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.6162G>C; p.M2054I; 6:87260226-87260226	breast	carcinoma	Substitution - Missense
c.5371G>C; p.E1791Q; 6:87259435-87259435	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3940_3941insA; p.N1315fs*18; 6:87258004-87258005	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.671_674delTATC; p.S225fs*21; 6:87254735-87254738	breast	carcinoma	Deletion - Frameshift
c.964G>T; p.V322L; 6:87255028-87255028	thyroid	carcinoma	Substitution - Missense
c.6022G>A; p.E2008K; 6:87260086-87260086	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6388C>T; p.R2130*; 6:87260452-87260452	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4264T>C; p.L1422L; 6:87258328-87258328	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.883T>C; p.W295R; 6:87254947-87254947	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2929G>A; p.A977T; 6:87256993-87256993	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3976C>T; p.P1326S; 6:87258040-87258040	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4264T>C; p.L1422L; 6:87258328-87258328	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.644A>C; p.E215A; 6:87254708-87254708	prostate	carcinoma	Substitution - Missense
c.2765C>T; p.T922I; 6:87256829-87256829	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4264T>C; p.L1422L; 6:87258328-87258328	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7682T>C; p.M2561T; 6:87261746-87261746	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5088A>T; p.L1696F; 6:87259152-87259152	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1901C>T; p.A634V; 6:87255965-87255965	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3611G>A; p.R1204Q; 6:87257675-87257675	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.609_610delCT; p.C204fs*17; 6:87254673-87254674	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.2663T>A; p.V888E; 6:87256727-87256727	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.119-7T>A; p.?; 6:87233333-87233333	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.7410G>A; p.P2470P; 6:87261474-87261474	breast	carcinoma	Substitution - coding silent
c.2333A>C; p.N778T; 6:87256397-87256397	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; large_cell	Substitution - Missense
c.3689T>G; p.F1230C; 6:87257753-87257753	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5644G>A; p.A1882T; 6:87259708-87259708	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7410G>A; p.P2470P; 6:87261474-87261474	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.674C>T; p.S225F; 6:87254738-87254738	breast	carcinoma	Substitution - Missense
c.1646A>G; p.Y549C; 6:87255710-87255710	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.776A>G; p.Y259C; 6:87254840-87254840	pancreas	carcinoma	Substitution - Missense
c.4084G>A; p.E1362K; 6:87258148-87258148	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4084G>A; p.E1362K; 6:87258148-87258148	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4084G>A; p.E1362K; 6:87258148-87258148	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4084G>A; p.E1362K; 6:87258148-87258148	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3598A>T; p.K1200*; 6:87257662-87257662	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6626A>G; p.N2209S; 6:87260690-87260690	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5732C>A; p.S1911Y; 6:87259796-87259796	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3891C>T; p.F1297F; 6:87257955-87257955	skin	malignant_melanoma	Substitution - coding silent
c.6328G>A; p.V2110I; 6:87260392-87260392	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6117A>G; p.Q2039Q; 6:87260181-87260181	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.815A>G; p.Y272C; 6:87254879-87254879	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6552A>T; p.K2184N; 6:87260616-87260616	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5702_5703insA; p.S1904fs*3; 6:87259766-87259767	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.2239A>T; p.K747*; 6:87256303-87256303	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.7699A>T; p.I2567F; 6:87261763-87261763	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6404A>C; p.K2135T; 6:87260468-87260468	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.847T>C; p.L283L; 6:87254911-87254911	skin	malignant_melanoma	Substitution - coding silent
c.7597A>G; p.T2533A; 6:87261661-87261661	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6633T>C; p.P2211P; 6:87260697-87260697	skin	malignant_melanoma	Substitution - coding silent
c.3129G>T; p.S1043S; 6:87257193-87257193	liver	carcinoma	Substitution - coding silent
c.3129G>T; p.S1043S; 6:87257193-87257193	liver	carcinoma	Substitution - coding silent
c.7533T>G; p.N2511K; 6:87261597-87261597	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.146T>A; p.M49K; 6:87233367-87233367	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.6015C>T; p.V2005V; 6:87260079-87260079	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6015C>T; p.V2005V; 6:87260079-87260079	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6290G>A; p.G2097E; 6:87260354-87260354	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7596C>A; p.C2532*; 6:87261660-87261660	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.148A>G; p.R50G; 6:87233369-87233369	central_nervous_system; brain	glioma	Substitution - Missense
c.2758C>A; p.L920I; 6:87256822-87256822	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3357T>C; p.P1119P; 6:87257421-87257421	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3357T>C; p.P1119P; 6:87257421-87257421	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3357T>C; p.P1119P; 6:87257421-87257421	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3946C>T; p.R1316C; 6:87258010-87258010	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1321C>T; p.P441S; 6:87255385-87255385	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.738G>A; p.L246L; 6:87254802-87254802	breast	carcinoma	Substitution - coding silent
c.4991C>A; p.S1664Y; 6:87259055-87259055	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3357T>C; p.P1119P; 6:87257421-87257421	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1822A>G; p.I608V; 6:87255886-87255886	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.742G>T; p.E248*; 6:87254806-87254806	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1006A>C; p.K336Q; 6:87255070-87255070	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2218G>C; p.D740H; 6:87256282-87256282	NS	NS	Substitution - Missense
c.3658A>T; p.K1220*; 6:87257722-87257722	skin	malignant_melanoma	Substitution - Nonsense
c.808C>G; p.Q270E; 6:87254872-87254872	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3822T>A; p.P1274P; 6:87257886-87257886	skin	malignant_melanoma	Substitution - coding silent
c.4333C>T; p.P1445S; 6:87258397-87258397	skin	malignant_melanoma	Substitution - Missense
c.1236A>G; p.V412V; 6:87255300-87255300	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1236A>G; p.V412V; 6:87255300-87255300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4271T>C; p.V1424A; 6:87258335-87258335	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6389G>T; p.R2130L; 6:87260453-87260453	breast	carcinoma	Substitution - Missense
c.7713A>C; p.K2571N; 6:87261777-87261777	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3700A>T; p.R1234W; 6:87257764-87257764	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6083G>A; p.R2028Q; 6:87260147-87260147	pancreas	carcinoma	Substitution - Missense
c.7647G>A; p.L2549L; 6:87261711-87261711	breast	carcinoma	Substitution - coding silent
c.3537G>T; p.V1179V; 6:87257601-87257601	liver	carcinoma	Substitution - coding silent
c.1610A>T; p.N537I; 6:87255674-87255674	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.51G>T; p.E17D; 6:87218664-87218664	breast	carcinoma	Substitution - Missense
c.4293A>G; p.L1431L; 6:87258357-87258357	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1955A>G; p.Y652C; 6:87256019-87256019	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.5064G>C; p.K1688N; 6:87259128-87259128	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2169A>C; p.E723D; 6:87256233-87256233	liver	carcinoma	Substitution - Missense
c.2743C>G; p.L915V; 6:87256807-87256807	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3469G>C; p.E1157Q; 6:87257533-87257533	breast	carcinoma	Substitution - Missense
c.7226C>T; p.S2409L; 6:87261290-87261290	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5792A>T; p.Q1931L; 6:87259856-87259856	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense

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]