Entrez Gene

Basic Information
Gene ID	55799
Name	CACNA2D3
Synonymous	calcium channel, voltage-dependent, alpha 2/delta subunit 3;CACNA2D3;calcium channel, voltage-dependent, alpha 2/delta subunit 3
Definition	calcium channel alpha2-delta3 subunit\|calcium channel, voltage-dependent, alpha 2/delta 3 subunit\|voltage-dependent calcium channel subunit alpha-2/delta-3\|voltage-gated calcium channel subunit alpha-2/delta-3
Position	3p21.1
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 0.12.

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.1001G>A; p.G334E; 3:54627824-54627824	skin	malignant_melanoma	Substitution - Missense
c.1734delA; p.K579fs*9; 3:54879041-54879041	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1564G>T; p.G522C; 3:54846405-54846405	liver	carcinoma	Substitution - Missense
c.1564G>T; p.G522C; 3:54846405-54846405	liver	carcinoma	Substitution - Missense
c.1260G>A; p.Q420Q; 3:54764231-54764231	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1204G>A; p.A402T; 3:54752635-54752635	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1393C>G; p.Q465E; 3:54816865-54816865	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1260G>A; p.Q420Q; 3:54764231-54764231	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.176A>C; p.K59T; 3:54123566-54123566	skin	malignant_melanoma	Substitution - Missense
c.762G>A; p.P254P; 3:54569978-54569978	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2310C>A; p.Y770*; 3:54896812-54896812	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.762G>A; p.P254P; 3:54569978-54569978	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1266C>T; p.S422S; 3:54764237-54764237	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.222G>C; p.E74D; 3:54320459-54320459	liver	carcinoma	Substitution - Missense
c.222G>C; p.E74D; 3:54320459-54320459	liver	carcinoma	Substitution - Missense
c.1399-3C>T; p.?; 3:54837156-54837156	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2092G>A; p.A698T; 3:54887994-54887994	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2204C>A; p.S735Y; 3:54891408-54891408	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2583T>C; p.N861N; 3:54984634-54984634	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2991C>G; p.S997S; 3:55073448-55073448	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2615C>T; p.T872I; 3:54984666-54984666	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2743G>A; p.D915N; 3:55004815-55004815	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1975G>A; p.D659N; 3:54885505-54885505	skin	malignant_melanoma	Substitution - Missense
c.1888C>T; p.R630*; 3:54880839-54880839	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2184C>T; p.L728L; 3:54891388-54891388	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1743G>A; p.G581G; 3:54879050-54879050	skin	malignant_melanoma	Substitution - coding silent
c.292A>T; p.M98L; 3:54320529-54320529	breast	carcinoma	Substitution - Missense
c.1493G>A; p.G498E; 3:54838590-54838590	skin	malignant_melanoma	Substitution - Missense
c.2073C>T; p.I691I; 3:54887975-54887975	skin	malignant_melanoma	Substitution - coding silent
c.1857G>A; p.A619A; 3:54880808-54880808	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.805G>A; p.G269R; 3:54570021-54570021	skin	malignant_melanoma	Substitution - Missense
c.1196G>T; p.R399L; 3:54752627-54752627	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3087C>T; p.P1029P; 3:55073544-55073544	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1857G>A; p.A619A; 3:54880808-54880808	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.754A>T; p.T252S; 3:54569970-54569970	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1857G>A; p.A619A; 3:54880808-54880808	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3087C>T; p.P1029P; 3:55073544-55073544	skin	malignant_melanoma	Substitution - coding silent
c.704G>A; p.G235E; 3:54569822-54569822	liver	carcinoma	Substitution - Missense
c.704G>A; p.G235E; 3:54569822-54569822	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.398C>T; p.A133V; 3:54503508-54503508	skin	malignant_melanoma	Substitution - Missense
c.426C>T; p.D142D; 3:54503536-54503536	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.704G>A; p.G235E; 3:54569822-54569822	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1416delC; p.V474fs*2; 3:54837176-54837176	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2319C>T; p.A773A; 3:54896821-54896821	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2245C>T; p.Q749*; 3:54891449-54891449	skin	malignant_melanoma	Substitution - Nonsense
c.1365T>A; p.A455A; 3:54764336-54764336	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2435C>T; p.S812F; 3:54899854-54899854	skin	malignant_melanoma	Substitution - Missense
c.824C>T; p.A275V; 3:54570040-54570040	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2920C>T; p.P974S; 3:55018250-55018250	skin	malignant_melanoma	Substitution - Missense
c.1884C>T; p.F628F; 3:54880835-54880835	skin	malignant_melanoma	Substitution - coding silent
c.824C>T; p.A275V; 3:54570040-54570040	pancreas	carcinoma	Substitution - Missense
c.2312G>A; p.R771Q; 3:54896814-54896814	skin	malignant_melanoma	Substitution - Missense
c.1782G>T; p.G594G; 3:54879089-54879089	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2803A>G; p.M935V; 3:55007826-55007826	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1856C>T; p.A619V; 3:54880807-54880807	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2044C>T; p.P682S; 3:54885574-54885574	skin	malignant_melanoma	Substitution - Missense
c.842C>A; p.S281Y; 3:54570058-54570058	skin	malignant_melanoma	Substitution - Missense
c.674C>T; p.P225L; 3:54562929-54562929	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2579A>G; p.D860G; 3:54984630-54984630	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.871T>G; p.F291V; 3:54570087-54570087	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1846T>G; p.L616V; 3:54880797-54880797	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.663T>A; p.F221L; 3:54562918-54562918	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1944C>T; p.S648S; 3:54885312-54885312	skin	malignant_melanoma	Substitution - coding silent
c.822C>T; p.I274I; 3:54570038-54570038	skin	malignant_melanoma	Substitution - coding silent
c.1611G>A; p.P537P; 3:54846452-54846452	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.822C>T; p.I274I; 3:54570038-54570038	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3157G>A; p.E1053K; 3:55073833-55073833	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.583C>G; p.L195V; 3:54562838-54562838	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.475C>G; p.H159D; 3:54503585-54503585	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1249T>A; p.F417I; 3:54764220-54764220	skin	malignant_melanoma	Substitution - Missense
c.2482C>A; p.Q828K; 3:54968482-54968482	breast	carcinoma	Substitution - Missense
c.286G>A; p.E96K; 3:54320523-54320523	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1046T>G; p.L349R; 3:54627869-54627869	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1475C>A; p.S492*; 3:54838572-54838572	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Nonsense
c.3091G>A; p.E1031K; 3:55073548-55073548	skin	malignant_melanoma	Substitution - Missense
c.994G>A; p.A332T; 3:54627817-54627817	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.994G>A; p.A332T; 3:54627817-54627817	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2899G>A; p.E967K; 3:55018229-55018229	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2098G>A; p.V700M; 3:54888000-54888000	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1639A>G; p.K547E; 3:54871551-54871551	skin	malignant_melanoma	Substitution - Missense
c.2521C>A; p.L841M; 3:54969809-54969809	liver	carcinoma	Substitution - Missense
c.1476G>A; p.S492S; 3:54838573-54838573	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2798G>A; p.W933*; 3:55007821-55007821	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.562G>A; p.G188R; 3:54562817-54562817	skin	malignant_melanoma	Substitution - Missense
c.2762T>C; p.L921P; 3:55004834-55004834	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2077G>T; p.E693*; 3:54887979-54887979	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1470C>T; p.T490T; 3:54837230-54837230	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1070A>T; p.Q357L; 3:54642144-54642144	liver	carcinoma	Substitution - Missense
c.1470C>T; p.T490T; 3:54837230-54837230	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.676+9A>G; p.?; 3:54562940-54562940	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1070A>T; p.Q357L; 3:54642144-54642144	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2578G>T; p.D860Y; 3:54984629-54984629	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3238C>T; p.L1080F; 3:55074168-55074168	skin	malignant_melanoma	Substitution - Missense
c.257A>T; p.Q86L; 3:54320494-54320494	liver	carcinoma	Substitution - Missense
c.1694A>G; p.E565G; 3:54871606-54871606	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3110C>T; p.S1037F; 3:55073786-55073786	skin; trunk	malignant_melanoma	Substitution - Missense
c.1122C>A; p.D374E; 3:54642196-54642196	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2096T>G; p.V699G; 3:54887998-54887998	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Substitution - Missense
c.2246+1G>T; p.?; 3:54891451-54891451	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2058T>A; p.C686*; 3:54887960-54887960	breast	carcinoma	Substitution - Nonsense
c.1837C>T; p.P613S; 3:54879404-54879404	skin	malignant_melanoma	Substitution - Missense
c.1196G>A; p.R399Q; 3:54752627-54752627	skin	malignant_melanoma	Substitution - Missense
c.1842C>T; p.F614F; 3:54879409-54879409	skin	malignant_melanoma	Substitution - coding silent
c.2108_2109CC>TT; p.P703L; 3:54888010-54888011	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1196G>A; p.R399Q; 3:54752627-54752627	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1630G>A; p.E544K; 3:54871542-54871542	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2758C>A; p.L920I; 3:55004830-55004830	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2758C>A; p.L920I; 3:55004830-55004830	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1772T>A; p.V591E; 3:54879079-54879079	skin	malignant_melanoma	Substitution - Missense
c.2758C>A; p.L920I; 3:55004830-55004830	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2443G>T; p.V815L; 3:54899862-54899862	liver	carcinoma	Substitution - Missense
c.613C>T; p.R205C; 3:54562868-54562868	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1029T>C; p.N343N; 3:54627852-54627852	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2443G>T; p.V815L; 3:54899862-54899862	liver	carcinoma	Substitution - Missense
c.1963T>C; p.Y655H; 3:54885493-54885493	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1522G>T; p.E508*; 3:54838619-54838619	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2734G>A; p.E912K; 3:55004806-55004806	skin	malignant_melanoma	Substitution - Missense
c.1332C>T; p.I444I; 3:54764303-54764303	skin	malignant_melanoma	Substitution - coding silent
c.865G>A; p.D289N; 3:54570081-54570081	skin	malignant_melanoma	Substitution - Missense
c.2734G>A; p.E912K; 3:55004806-55004806	skin	malignant_melanoma	Substitution - Missense
c.2734G>A; p.E912K; 3:55004806-55004806	skin	malignant_melanoma	Substitution - Missense
c.2117C>T; p.A706V; 3:54888019-54888019	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1758G>A; p.E586E; 3:54879065-54879065	skin	malignant_melanoma	Substitution - coding silent
c.1895A>T; p.N632I; 3:54880846-54880846	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2990C>T; p.S997F; 3:55073447-55073447	skin	malignant_melanoma	Substitution - Missense
c.2481C>T; p.F827F; 3:54968481-54968481	skin	malignant_melanoma	Substitution - coding silent
c.1492G>T; p.G498*; 3:54838589-54838589	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.328G>T; p.V110L; 3:54386721-54386721	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1994G>A; p.R665H; 3:54885524-54885524	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1994G>A; p.R665H; 3:54885524-54885524	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2298C>T; p.F766F; 3:54896800-54896800	skin	malignant_melanoma	Substitution - coding silent
c.1693G>A; p.E565K; 3:54871605-54871605	skin	malignant_melanoma	Substitution - Missense
c.429G>A; p.G143G; 3:54503539-54503539	skin	malignant_melanoma	Substitution - coding silent
c.429G>A; p.G143G; 3:54503539-54503539	skin	malignant_melanoma	Substitution - coding silent
c.429G>A; p.G143G; 3:54503539-54503539	skin	malignant_melanoma	Substitution - coding silent
c.429G>A; p.G143G; 3:54503539-54503539	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3161C>T; p.S1054F; 3:55073837-55073837	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.432T>A; p.N144K; 3:54503542-54503542	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2960_2961GG>AA; p.G987E; 3:55018290-55018291	skin; trunk	malignant_melanoma	Substitution - Missense
c.2053C>T; p.Q685*; 3:54885583-54885583	skin	malignant_melanoma	Substitution - Nonsense
c.1464C>T; p.N488N; 3:54837224-54837224	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3115A>C; p.K1039Q; 3:55073791-55073791	skin	malignant_melanoma	Substitution - Missense
c.1705G>A; p.D569N; 3:54871617-54871617	skin	malignant_melanoma	Substitution - Missense
c.729C>T; p.N243N; 3:54569847-54569847	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2928C>T; p.F976F; 3:55018258-55018258	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1664G>A; p.S555N; 3:54871576-54871576	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1707C>T; p.D569D; 3:54871619-54871619	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1601T>A; p.L534Q; 3:54846442-54846442	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2111T>A; p.I704N; 3:54888013-54888013	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2977G>C; p.D993H; 3:55018307-55018307	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2928C>T; p.F976F; 3:55018258-55018258	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2682C>A; p.S894S; 3:54987745-54987745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1090G>T; p.A364S; 3:54642164-54642164	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2352G>A; p.S784S; 3:54896854-54896854	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.417G>T; p.R139S; 3:54503527-54503527	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.417G>T; p.R139S; 3:54503527-54503527	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.417G>T; p.R139S; 3:54503527-54503527	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2417T>C; p.L806P; 3:54899836-54899836	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2417T>C; p.L806P; 3:54899836-54899836	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - Missense
c.451G>A; p.E151K; 3:54503561-54503561	skin	malignant_melanoma	Substitution - Missense
c.1863C>T; p.S621S; 3:54880814-54880814	skin	malignant_melanoma	Substitution - coding silent
c.1171C>T; p.R391C; 3:54752602-54752602	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.451G>A; p.E151K; 3:54503561-54503561	skin	malignant_melanoma	Substitution - Missense
c.1171C>T; p.R391C; 3:54752602-54752602	breast	carcinoma	Substitution - Missense
c.451G>A; p.E151K; 3:54503561-54503561	skin	malignant_melanoma	Substitution - Missense
c.1292T>C; p.V431A; 3:54764263-54764263	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.222G>A; p.E74E; 3:54320459-54320459	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2943C>T; p.T981T; 3:55018273-55018273	skin	malignant_melanoma	Substitution - coding silent
c.676+9A>C; p.?; 3:54562940-54562940	stomach	carcinoma; adenocarcinoma	Unknown
c.2908G>T; p.D970Y; 3:55018238-55018238	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1461G>T; p.Q487H; 3:54837221-54837221	liver	carcinoma	Substitution - Missense
c.2880G>T; p.Q960H; 3:55018210-55018210	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.676+9A>C; p.?; 3:54562940-54562940	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1461G>T; p.Q487H; 3:54837221-54837221	liver	carcinoma	Substitution - Missense
c.1936G>A; p.D646N; 3:54885304-54885304	thyroid	carcinoma	Substitution - Missense
c.2052C>A; p.L684L; 3:54885582-54885582	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.929G>A; p.G310E; 3:54581843-54581843	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.566T>G; p.V189G; 3:54562821-54562821	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1205C>T; p.A402V; 3:54752636-54752636	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.768C>G; p.D256E; 3:54569984-54569984	skin; extremity	malignant_melanoma	Substitution - Missense
c.424G>T; p.D142Y; 3:54503534-54503534	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2059G>A; p.D687N; 3:54887961-54887961	skin	malignant_melanoma	Substitution - Missense
c.2015C>T; p.A672V; 3:54885545-54885545	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.625C>G; p.L209V; 3:54562880-54562880	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.182C>A; p.S61Y; 3:54123572-54123572	pancreas	carcinoma	Substitution - Missense
c.769G>A; p.V257M; 3:54569985-54569985	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3207T>G; p.G1069G; 3:55074137-55074137	breast	carcinoma	Substitution - coding silent
c.573G>T; p.W191C; 3:54562828-54562828	central_nervous_system; brain	glioma	Substitution - Missense
c.376T>A; p.L126I; 3:54386769-54386769	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1544A>T; p.K515I; 3:54838641-54838641	ovary	other; neoplasm	Substitution - Missense
c.1544A>T; p.K515I; 3:54838641-54838641	ovary	other; neoplasm	Substitution - Missense
c.2689A>T; p.R897*; 3:54987752-54987752	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.1703A>G; p.D568G; 3:54871615-54871615	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2421G>A; p.L807L; 3:54899840-54899840	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2149G>A; p.E717K; 3:54888051-54888051	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1668C>T; p.S556S; 3:54871580-54871580	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1668C>T; p.S556S; 3:54871580-54871580	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2629delT; p.F878fs*8; 3:54987692-54987692	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.3241C>T; p.L1081L; 3:55074171-55074171	skin	malignant_melanoma	Substitution - coding silent
c.688G>A; p.E230K; 3:54569806-54569806	skin	malignant_melanoma	Substitution - Missense
c.1604C>T; p.T535M; 3:54846445-54846445	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1120G>T; p.D374Y; 3:54642194-54642194	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2960G>A; p.G987E; 3:55018290-55018290	skin	malignant_melanoma	Substitution - Missense
c.676G>A; p.G226R; 3:54562931-54562931	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.932C>T; p.T311I; 3:54581846-54581846	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2437C>T; p.P813S; 3:54899856-54899856	skin	malignant_melanoma	Substitution - Missense
c.731G>A; p.R244Q; 3:54569849-54569849	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.527C>T; p.T176M; 3:54503637-54503637	pancreas	carcinoma	Substitution - Missense
c.731G>A; p.R244Q; 3:54569849-54569849	breast	carcinoma	Substitution - Missense
c.675G>A; p.P225P; 3:54562930-54562930	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2931C>A; p.V977V; 3:55018261-55018261	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1285G>T; p.E429*; 3:54764256-54764256	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2094G>A; p.A698A; 3:54887996-54887996	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2949G>A; p.K983K; 3:55018279-55018279	skin	malignant_melanoma	Substitution - coding silent
c.811C>T; p.R271C; 3:54570027-54570027	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.811C>T; p.R271C; 3:54570027-54570027	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.811C>T; p.R271C; 3:54570027-54570027	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2351C>T; p.S784L; 3:54896853-54896853	skin	malignant_melanoma	Substitution - Missense
c.821T>C; p.I274T; 3:54570037-54570037	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2435C>A; p.S812Y; 3:54899854-54899854	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.186T>C; p.G62G; 3:54123576-54123576	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1862C>T; p.S621F; 3:54880813-54880813	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.761C>T; p.P254L; 3:54569977-54569977	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.427G>A; p.G143R; 3:54503537-54503537	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2892G>A; p.Q964Q; 3:55018222-55018222	skin	malignant_melanoma	Substitution - coding silent
c.2892G>A; p.Q964Q; 3:55018222-55018222	skin	malignant_melanoma	Substitution - coding silent
c.860G>T; p.G287V; 3:54570076-54570076	skin	malignant_melanoma	Substitution - Missense
c.1909G>A; p.E637K; 3:54880860-54880860	skin	malignant_melanoma	Substitution - Missense
c.1089G>T; p.Q363H; 3:54642163-54642163	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1700G>A; p.R567Q; 3:54871612-54871612	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1105A>C; p.T369P; 3:54642179-54642179	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1465G>A; p.E489K; 3:54837225-54837225	skin	malignant_melanoma	Substitution - Missense
c.545-10T>C; p.?; 3:54562790-54562790	pancreas	carcinoma	Unknown
c.1597A>G; p.I533V; 3:54846438-54846438	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.2690G>A; p.R897K; 3:54987753-54987753	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1597A>G; p.I533V; 3:54846438-54846438	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1870C>T; p.H624Y; 3:54880821-54880821	skin	malignant_melanoma	Substitution - Missense
c.1784A>G; p.K595R; 3:54879351-54879351	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2361C>T; p.F787F; 3:54896863-54896863	skin	malignant_melanoma	Substitution - coding silent
c.1683G>T; p.E561D; 3:54871595-54871595	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1626G>A; p.L542L; 3:54846467-54846467	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2318C>T; p.A773V; 3:54896820-54896820	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3081G>A; p.M1027I; 3:55073538-55073538	skin	malignant_melanoma	Substitution - Missense
c.1014G>A; p.L338L; 3:54627837-54627837	skin	malignant_melanoma	Substitution - coding silent
c.2202C>T; p.L734L; 3:54891406-54891406	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2982C>T; p.C994C; 3:55018312-55018312	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2982C>T; p.C994C; 3:55018312-55018312	central_nervous_system; brain	glioma	Substitution - coding silent
c.1002A>G; p.G334G; 3:54627825-54627825	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.825G>A; p.A275A; 3:54570041-54570041	skin	malignant_melanoma	Substitution - coding silent
c.825G>A; p.A275A; 3:54570041-54570041	skin	malignant_melanoma	Substitution - coding silent
c.825G>A; p.A275A; 3:54570041-54570041	skin	malignant_melanoma	Substitution - coding silent
c.825G>A; p.A275A; 3:54570041-54570041	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1605G>A; p.T535T; 3:54846446-54846446	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.825G>A; p.A275A; 3:54570041-54570041	skin	malignant_melanoma	Substitution - coding silent
c.2271G>A; p.K757K; 3:54896773-54896773	skin	malignant_melanoma	Substitution - coding silent
c.1113_1114GG>AA; p.A372T; 3:54642187-54642188	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2626G>T; p.D876Y; 3:54987689-54987689	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1838C>T; p.P613L; 3:54879405-54879405	skin; trunk	malignant_melanoma	Substitution - Missense
c.2961G>A; p.G987G; 3:55018291-55018291	skin	malignant_melanoma	Substitution - coding silent
c.2337G>A; p.G779G; 3:54896839-54896839	skin	malignant_melanoma	Substitution - coding silent
c.1285G>A; p.E429K; 3:54764256-54764256	skin	malignant_melanoma	Substitution - Missense
c.1714A>G; p.R572G; 3:54879021-54879021	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2961G>A; p.G987G; 3:55018291-55018291	skin	malignant_melanoma	Substitution - coding silent
c.3149G>A; p.R1050K; 3:55073825-55073825	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.658delT; p.F221fs*40; 3:54562913-54562913	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2016G>A; p.A672A; 3:54885546-54885546	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.658delT; p.F221fs*40; 3:54562913-54562913	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2896C>A; p.L966M; 3:55018226-55018226	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.658delT; p.F221fs*40; 3:54562913-54562913	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.658delT; p.F221fs*40; 3:54562913-54562913	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2185G>A; p.G729S; 3:54891389-54891389	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1072G>A; p.G358R; 3:54642146-54642146	skin	malignant_melanoma	Substitution - Missense
c.3077C>T; p.T1026I; 3:55073534-55073534	skin	malignant_melanoma	Substitution - Missense
c.2749G>A; p.A917T; 3:55004821-55004821	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3038T>C; p.V1013A; 3:55073495-55073495	breast	carcinoma	Substitution - Missense
c.770T>C; p.V257A; 3:54569986-54569986	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1113G>A; p.G371G; 3:54642187-54642187	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.868G>T; p.D290Y; 3:54570084-54570084	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2425G>T; p.E809*; 3:54899844-54899844	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3123A>T; p.E1041D; 3:55073799-55073799	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.475C>T; p.H159Y; 3:54503585-54503585	skin	malignant_melanoma	Substitution - Missense
c.969C>T; p.F323F; 3:54627792-54627792	skin	malignant_melanoma	Substitution - coding silent
c.218A>G; p.Y73C; 3:54320455-54320455	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1176C>A; p.I392I; 3:54752607-54752607	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.517C>A; p.Q173K; 3:54503627-54503627	breast	carcinoma	Substitution - Missense
c.2336G>A; p.G779E; 3:54896838-54896838	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1355G>A; p.W452*; 3:54764326-54764326	skin	malignant_melanoma	Substitution - Nonsense
c.2595T>C; p.I865I; 3:54984646-54984646	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.141G>A; p.S47S; 3:54123531-54123531	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1065G>A; p.T355T; 3:54642139-54642139	skin	malignant_melanoma	Substitution - coding silent
c.1125C>T; p.T375T; 3:54642199-54642199	breast	carcinoma	Substitution - coding silent
c.2139C>T; p.L713L; 3:54888041-54888041	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3009C>T; p.I1003I; 3:55073466-55073466	skin	malignant_melanoma	Substitution - coding silent
c.2782C>A; p.L928I; 3:55007805-55007805	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2748C>T; p.G916G; 3:55004820-55004820	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1135A>C; p.I379L; 3:54642209-54642209	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2748C>T; p.G916G; 3:55004820-55004820	pancreas	carcinoma	Substitution - coding silent
c.1726G>A; p.V576M; 3:54879033-54879033	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1637G>A; p.G546E; 3:54871549-54871549	skin	malignant_melanoma	Substitution - Missense
c.1338G>A; p.Q446Q; 3:54764309-54764309	skin	malignant_melanoma	Substitution - coding silent
c.246T>C; p.I82I; 3:54320483-54320483	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.246T>C; p.I82I; 3:54320483-54320483	breast	carcinoma	Substitution - coding silent
c.3116A>C; p.K1039T; 3:55073792-55073792	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.768C>T; p.D256D; 3:54569984-54569984	pancreas	carcinoma	Substitution - coding silent
c.768C>T; p.D256D; 3:54569984-54569984	skin	malignant_melanoma	Substitution - coding silent
c.3151C>T; p.R1051C; 3:55073827-55073827	breast	carcinoma	Substitution - Missense
c.768C>T; p.D256D; 3:54569984-54569984	pancreas	carcinoma	Substitution - coding silent
c.450G>A; p.K150K; 3:54503560-54503560	skin	malignant_melanoma	Substitution - coding silent
c.3151C>T; p.R1051C; 3:55073827-55073827	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2929G>A; p.V977I; 3:55018259-55018259	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2041G>A; p.E681K; 3:54885571-54885571	skin	malignant_melanoma	Substitution - Missense
c.418G>A; p.D140N; 3:54503528-54503528	skin	malignant_melanoma	Substitution - Missense
c.2249A>T; p.D750V; 3:54896751-54896751	skin	malignant_melanoma	Substitution - Missense
c.1303C>A; p.L435I; 3:54764274-54764274	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.850G>A; p.D284N; 3:54570066-54570066	skin	malignant_melanoma	Substitution - Missense
c.229G>A; p.V77I; 3:54320466-54320466	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1913-1G>A; p.?; 3:54885280-54885280	skin	malignant_melanoma	Unknown
c.241G>T; p.E81*; 3:54320478-54320478	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3146G>A; p.R1049K; 3:55073822-55073822	NS	malignant_melanoma	Substitution - Missense
c.3146G>A; p.R1049K; 3:55073822-55073822	NS	malignant_melanoma	Substitution - Missense
c.1959-2A>T; p.?; 3:54885487-54885487	pancreas	carcinoma	Unknown
c.2369-1G>T; p.?; 3:54899787-54899787	stomach	carcinoma; adenocarcinoma	Unknown
c.2487G>A; p.R829R; 3:54968487-54968487	skin	malignant_melanoma	Substitution - coding silent
c.544+1G>T; p.?; 3:54503655-54503655	skin	malignant_melanoma	Unknown
c.1708G>A; p.V570M; 3:54871620-54871620	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2742C>T; p.S914S; 3:55004814-55004814	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2065G>T; p.E689*; 3:54887967-54887967	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1510G>A; p.V504I; 3:54838607-54838607	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3062C>T; p.S1021F; 3:55073519-55073519	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2512-1G>A; p.?; 3:54969799-54969799	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.985A>C; p.K329Q; 3:54627808-54627808	skin	malignant_melanoma	Substitution - Missense
c.1095C>T; p.I365I; 3:54642169-54642169	skin	malignant_melanoma	Substitution - coding silent
c.1470+1G>T; p.?; 3:54837231-54837231	lung	carcinoma; adenocarcinoma	Unknown
c.361G>A; p.E121K; 3:54386754-54386754	skin	malignant_melanoma	Substitution - Missense
c.2698C>A; p.L900I; 3:55004770-55004770	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1162C>T; p.R388*; 3:54642236-54642236	skin	malignant_melanoma	Substitution - Nonsense
c.1073G>A; p.G358E; 3:54642147-54642147	skin	malignant_melanoma	Substitution - Missense
c.1733G>A; p.R578Q; 3:54879040-54879040	skin	malignant_melanoma	Substitution - Missense
c.1733G>A; p.R578Q; 3:54879040-54879040	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.730C>T; p.R244*; 3:54569848-54569848	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.730C>T; p.R244*; 3:54569848-54569848	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.179A>G; p.Y60C; 3:54123569-54123569	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1868G>T; p.G623V; 3:54880819-54880819	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1811A>T; p.Y604F; 3:54879378-54879378	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.769G>T; p.V257L; 3:54569985-54569985	breast	carcinoma	Substitution - Missense
c.1893G>A; p.G631G; 3:54880844-54880844	skin	malignant_melanoma	Substitution - coding silent
c.616G>T; p.D206Y; 3:54562871-54562871	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2682C>T; p.S894S; 3:54987745-54987745	skin	malignant_melanoma	Substitution - coding silent
c.472G>T; p.D158Y; 3:54503582-54503582	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1522G>A; p.E508K; 3:54838619-54838619	skin	malignant_melanoma	Substitution - Missense
c.2187C>T; p.G729G; 3:54891391-54891391	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2187C>T; p.G729G; 3:54891391-54891391	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2854C>T; p.H952Y; 3:55009422-55009422	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1163G>A; p.R388Q; 3:54642237-54642237	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1646G>T; p.R549L; 3:54871558-54871558	breast	carcinoma	Substitution - Missense
c.2729A>C; p.N910T; 3:55004801-55004801	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3101A>G; p.Y1034C; 3:55073777-55073777	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1948G>T; p.A650S; 3:54885316-54885316	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.381G>A; p.Q127Q; 3:54386774-54386774	skin	malignant_melanoma	Substitution - coding silent
c.2125A>G; p.T709A; 3:54888027-54888027	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.381G>A; p.Q127Q; 3:54386774-54386774	skin	malignant_melanoma	Substitution - coding silent
c.390C>A; p.Y130*; 3:54503500-54503500	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.746A>T; p.Q249L; 3:54569962-54569962	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.505C>T; p.L169L; 3:54503615-54503615	prostate	carcinoma	Substitution - coding silent
c.1320G>A; p.R440R; 3:54764291-54764291	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.188C>T; p.S63F; 3:54123578-54123578	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.993C>T; p.F331F; 3:54627816-54627816	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.993C>T; p.F331F; 3:54627816-54627816	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.993C>T; p.F331F; 3:54627816-54627816	skin	malignant_melanoma	Substitution - coding silent
c.2524G>A; p.D842N; 3:54969812-54969812	skin	malignant_melanoma	Substitution - Missense
c.463G>A; p.A155T; 3:54503573-54503573	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.463G>A; p.A155T; 3:54503573-54503573	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2343C>T; p.F781F; 3:54896845-54896845	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1610C>T; p.P537L; 3:54846451-54846451	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2320G>A; p.A774T; 3:54896822-54896822	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3209C>T; p.A1070V; 3:55074139-55074139	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2320G>A; p.A774T; 3:54896822-54896822	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2320G>A; p.A774T; 3:54896822-54896822	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2320G>A; p.A774T; 3:54896822-54896822	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3209C>T; p.A1070V; 3:55074139-55074139	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.839C>T; p.S280L; 3:54570055-54570055	skin	malignant_melanoma	Substitution - Missense
c.2260G>T; p.A754S; 3:54896762-54896762	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1955A>G; p.E652G; 3:54885323-54885323	endometrium	carcinoma; endometrioid_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]