Entrez Gene

Basic Information
Gene ID	27030
Name	MLH3
Synonymous	mutL homolog 3;MLH3;mutL homolog 3
Definition	DNA mismatch repair protein Mlh3
Position	14q24.3
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 0.23.

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.4133C>G; p.P1378R; 14:75018866-75018866	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.229A>T; p.K77*; 14:75049427-75049427	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.629G>A; p.R210Q; 14:75049027-75049027	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.684delT; p.F228fs*27; 14:75048972-75048972	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3280+1G>T; p.?; 14:75046375-75046375	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.41G>A; p.R14H; 14:75049615-75049615	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3827T>C; p.L1276P; 14:75030631-75030631	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3952A>C; p.T1318P; 14:75022880-75022880	breast	carcinoma	Substitution - Missense
c.2144C>T; p.P715L; 14:75047512-75047512	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3287A>C; p.Q1096P; 14:75042471-75042471	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.130A>G; p.R44G; 14:75049526-75049526	breast	carcinoma	Substitution - Missense
c.130A>G; p.R44G; 14:75049526-75049526	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3145G>A; p.D1049N; 14:75046511-75046511	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1993G>T; p.E665*; 14:75047663-75047663	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1188_1190delTAT; p.I397delI; 14:75048466-75048468	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - In frame
c.1883A>C; p.K628T; 14:75047773-75047773	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1591delA; p.S531fs*12; 14:75048065-75048065	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.4204G>A; p.A1402T; 14:75017168-75017168	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1674T>G; p.T558T; 14:75047982-75047982	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2753A>G; p.D918G; 14:75046903-75046903	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3586G>A; p.D1196N; 14:75038397-75038397	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3609G>C; p.L1203F; 14:75038374-75038374	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1339G>T; p.G447C; 14:75048317-75048317	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2287A>G; p.K763E; 14:75047369-75047369	skin	malignant_melanoma	Substitution - Missense
c.2924A>C; p.N975T; 14:75046732-75046732	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3378_3379delAG; p.D1127fs*4; 14:75042379-75042380	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2599G>C; p.E867Q; 14:75047057-75047057	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3874C>T; p.L1292F; 14:75030584-75030584	skin	malignant_melanoma	Substitution - Missense
c.2733G>C; p.L911F; 14:75046923-75046923	breast	carcinoma	Substitution - Missense
c.3454C>T; p.R1152C; 14:75041626-75041626	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3454C>T; p.R1152C; 14:75041626-75041626	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.535_536delTC; p.S179fs*13; 14:75049120-75049121	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.559_562delTTCT; p.F187fs*2; 14:75049094-75049097	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2102G>C; p.S701T; 14:75047554-75047554	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.756G>C; p.L252F; 14:75048900-75048900	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1023G>A; p.Q341Q; 14:75048633-75048633	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.673G>T; p.E225*; 14:75048983-75048983	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.673G>T; p.E225*; 14:75048983-75048983	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2935G>T; p.V979F; 14:75046721-75046721	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1218G>A; p.L406L; 14:75048438-75048438	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.527A>T; p.E176V; 14:75049129-75049129	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4239T>C; p.C1413C; 14:75017133-75017133	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1608C>A; p.G536G; 14:75048048-75048048	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.543G>A; p.M181I; 14:75049113-75049113	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.543G>A; p.M181I; 14:75049113-75049113	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.600G>C; p.Q200H; 14:75049056-75049056	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2151C>T; p.F717F; 14:75047505-75047505	skin	malignant_melanoma	Substitution - coding silent
c.4047C>T; p.S1349S; 14:75018952-75018952	large_intestine; colon	NS	Substitution - coding silent
c.3293G>A; p.R1098K; 14:75042465-75042465	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1052A>C; p.E351A; 14:75048604-75048604	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3654G>C; p.E1218D; 14:75032169-75032169	breast	carcinoma	Substitution - Missense
c.100A>G; p.I34V; 14:75049556-75049556	liver	carcinoma	Substitution - Missense
c.100A>G; p.I34V; 14:75049556-75049556	liver	carcinoma	Substitution - Missense
c.3426C>A; p.F1142L; 14:75041654-75041654	pancreas	carcinoma	Substitution - Missense
c.4170+1G>A; p.?; 14:75018828-75018828	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.3426C>A; p.F1142L; 14:75041654-75041654	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1573C>A; p.L525I; 14:75048083-75048083	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2930C>A; p.S977Y; 14:75046726-75046726	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2752G>T; p.D918Y; 14:75046904-75046904	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2752G>T; p.D918Y; 14:75046904-75046904	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2782_2783insA; p.T930fs*16; 14:75046873-75046874	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2329G>T; p.G777*; 14:75047327-75047327	skin	malignant_melanoma	Substitution - Nonsense
c.201G>C; p.E67D; 14:75049455-75049455	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2591T>C; p.L864S; 14:75047065-75047065	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2591T>C; p.L864S; 14:75047065-75047065	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1217delT; p.L406fs*6; 14:75048439-75048439	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1573C>T; p.L525L; 14:75048083-75048083	skin	malignant_melanoma	Substitution - coding silent
c.4150C>T; p.H1384Y; 14:75018849-75018849	skin	malignant_melanoma	Substitution - Missense
c.3269T>C; p.V1090A; 14:75046387-75046387	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.819G>A; p.R273R; 14:75048837-75048837	lung	carcinoid-endocrine_tumour; typical	Substitution - coding silent
c.1754_1755delAA; p.K585fs*3; 14:75047901-75047902	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1799G>A; p.R600Q; 14:75047857-75047857	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1437A>G; p.S479S; 14:75048219-75048219	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.341A>C; p.N114T; 14:75049315-75049315	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1996T>G; p.S666A; 14:75047660-75047660	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2379G>T; p.K793N; 14:75047277-75047277	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.698T>A; p.F233Y; 14:75048958-75048958	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1626G>C; p.L542F; 14:75048030-75048030	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2656_2657delGA; p.E886fs*11; 14:75046999-75047000	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1142G>A; p.R381H; 14:75048514-75048514	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1363G>C; p.E455Q; 14:75048293-75048293	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.944G>A; p.C315Y; 14:75048712-75048712	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.282A>G; p.G94G; 14:75049374-75049374	liver	carcinoma	Substitution - coding silent
c.282A>G; p.G94G; 14:75049374-75049374	liver	carcinoma	Substitution - coding silent
c.1516G>T; p.E506*; 14:75048140-75048140	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3380-4C>G; p.?; 14:75041704-75041704	liver	carcinoma	Unknown
c.3380-4C>G; p.?; 14:75041704-75041704	liver	carcinoma	Unknown
c.1186A>C; p.N396H; 14:75048470-75048470	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.214C>T; p.R72C; 14:75049442-75049442	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3363G>A; p.M1121I; 14:75042395-75042395	breast	carcinoma	Substitution - Missense
c.1283C>T; p.S428L; 14:75048373-75048373	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3554T>C; p.M1185T; 14:75039927-75039927	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1755_1756insA; p.E586fs*3; 14:75047900-75047901	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.240G>T; p.S80S; 14:75049416-75049416	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2221G>A; p.V741I; 14:75047435-75047435	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.521G>T; p.R174I; 14:75049135-75049135	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1904C>T; p.P635L; 14:75047752-75047752	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2321A>G; p.E774G; 14:75047335-75047335	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1440A>C; p.E480D; 14:75048216-75048216	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1115G>A; p.S372N; 14:75048541-75048541	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.679A>C; p.S227R; 14:75048977-75048977	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.349A>G; p.M117V; 14:75049307-75049307	pancreas	other; pancreatoblastoma	Substitution - Missense
c.3023C>T; p.P1008L; 14:75046633-75046633	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2436T>C; p.S812S; 14:75047220-75047220	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2141C>T; p.S714F; 14:75047515-75047515	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1910G>A; p.R637H; 14:75047746-75047746	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2682T>C; p.S894S; 14:75046974-75046974	skin	malignant_melanoma	Substitution - coding silent
c.1472T>C; p.F491S; 14:75048184-75048184	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1472T>C; p.F491S; 14:75048184-75048184	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4193T>G; p.L1398R; 14:75017179-75017179	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2311G>T; p.E771*; 14:75047345-75047345	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3515T>A; p.I1172N; 14:75039966-75039966	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1469C>A; p.S490Y; 14:75048187-75048187	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1469C>A; p.S490Y; 14:75048187-75048187	breast	carcinoma	Substitution - Missense
c.1469C>A; p.S490Y; 14:75048187-75048187	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2676G>A; p.M892I; 14:75046980-75046980	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1295G>T; p.R432I; 14:75048361-75048361	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1152C>G; p.S384S; 14:75048504-75048504	skin	malignant_melanoma	Substitution - coding silent
c.3349G>A; p.E1117K; 14:75042409-75042409	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3406G>A; p.E1136K; 14:75041674-75041674	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.413C>G; p.T138S; 14:75049243-75049243	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2897C>G; p.S966*; 14:75046759-75046759	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2236A>C; p.S746R; 14:75047420-75047420	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2714delG; p.S905fs*11; 14:75046942-75046942	liver	carcinoma	Deletion - Frameshift
c.2531C>T; p.P844L; 14:75047125-75047125	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.771A>G; p.R257R; 14:75048885-75048885	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2531C>T; p.P844L; 14:75047125-75047125	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1024G>A; p.E342K; 14:75048632-75048632	breast	carcinoma	Substitution - Missense
c.1710A>G; p.T570T; 14:75047946-75047946	thyroid	carcinoma	Substitution - coding silent
c.3406G>T; p.E1136*; 14:75041674-75041674	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3276G>A; p.E1092E; 14:75046380-75046380	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3312C>T; p.S1104S; 14:75042446-75042446	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1455G>A; p.E485E; 14:75048201-75048201	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2132C>G; p.S711C; 14:75047524-75047524	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2132C>G; p.S711C; 14:75047524-75047524	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.766A>C; p.K256Q; 14:75048890-75048890	pancreas	carcinoma	Substitution - Missense
c.766A>C; p.K256Q; 14:75048890-75048890	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.424G>A; p.A142T; 14:75049232-75049232	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2829G>T; p.Q943H; 14:75046827-75046827	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4195C>T; p.R1399C; 14:75017177-75017177	skin	malignant_melanoma	Substitution - Missense
c.2486A>C; p.K829T; 14:75047170-75047170	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3908T>C; p.I1303T; 14:75030550-75030550	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3851T>C; p.F1284S; 14:75030607-75030607	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.147C>T; p.T49T; 14:75049509-75049509	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4114G>T; p.G1372W; 14:75018885-75018885	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1285G>T; p.E429*; 14:75048371-75048371	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.107C>A; p.A36D; 14:75049549-75049549	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3308G>T; p.R1103I; 14:75042450-75042450	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1463A>C; p.K488T; 14:75048193-75048193	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1766A>G; p.N589S; 14:75047890-75047890	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.1123G>A; p.D375N; 14:75048533-75048533	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.620T>C; p.V207A; 14:75049036-75049036	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3822G>A; p.L1274L; 14:75030636-75030636	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.871A>T; p.N291Y; 14:75048785-75048785	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3566_3567insCATTCAAT; p.M1189fs*10; 14:75039914-75039915	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.2031G>A; p.T677T; 14:75047625-75047625	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1471T>C; p.F491L; 14:75048185-75048185	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2788_2789insA; p.T930fs*16; 14:75046867-75046868	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1592G>C; p.S531T; 14:75048064-75048064	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1035A>C; p.K345N; 14:75048621-75048621	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2041T>C; p.Y681H; 14:75047615-75047615	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2596C>A; p.L866I; 14:75047060-75047060	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1778G>T; p.R593I; 14:75047878-75047878	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1755delA; p.E586fs*24; 14:75047901-75047901	stomach	adenocarcinoma	Deletion - Frameshift
c.4115G>A; p.G1372E; 14:75018884-75018884	skin	malignant_melanoma	Substitution - Missense
c.4115G>A; p.G1372E; 14:75018884-75018884	skin	malignant_melanoma	Substitution - Missense
c.1755delA; p.E586fs*24; 14:75047901-75047901	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1755delA; p.E586fs*24; 14:75047901-75047901	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1755delA; p.E586fs*24; 14:75047901-75047901	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1755delA; p.E586fs*24; 14:75047901-75047901	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1755delA; p.E586fs*24; 14:75047901-75047901	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1358T>C; p.M453T; 14:75048298-75048298	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1755delA; p.E586fs*24; 14:75047901-75047901	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1755delA; p.E586fs*24; 14:75047901-75047901	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2917C>T; p.P973S; 14:75046739-75046739	skin	malignant_melanoma	Substitution - Missense
c.3954C>T; p.T1318T; 14:75022878-75022878	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3496G>C; p.E1166Q; 14:75039985-75039985	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.390G>T; p.L130L; 14:75049266-75049266	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3877C>T; p.R1293W; 14:75030581-75030581	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4123_4125delTCT; p.S1375delS; 14:75018874-75018876	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.1537C>G; p.Q513E; 14:75048119-75048119	breast	carcinoma	Substitution - Missense
c.1301delA; p.N434fs*20; 14:75048355-75048355	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4066C>G; p.L1356V; 14:75018933-75018933	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2779C>T; p.H927Y; 14:75046877-75046877	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.2021delA; p.N674fs*6; 14:75047635-75047635	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2021delA; p.N674fs*6; 14:75047635-75047635	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2021delA; p.N674fs*6; 14:75047635-75047635	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2021delA; p.N674fs*6; 14:75047635-75047635	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2606C>T; p.S869L; 14:75047050-75047050	skin	malignant_melanoma	Substitution - Missense
c.2021delA; p.N674fs*6; 14:75047635-75047635	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1756G>T; p.E586*; 14:75047900-75047900	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2021delA; p.N674fs*6; 14:75047635-75047635	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2021delA; p.N674fs*6; 14:75047635-75047635	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1756G>T; p.E586*; 14:75047900-75047900	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2021delA; p.N674fs*6; 14:75047635-75047635	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3317T>C; p.L1106P; 14:75042441-75042441	liver	carcinoma	Substitution - Missense
c.916T>C; p.Y306H; 14:75048740-75048740	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1102G>T; p.D368Y; 14:75048554-75048554	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3731C>T; p.T1244I; 14:75032092-75032092	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3754T>A; p.W1252R; 14:75032069-75032069	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3887G>A; p.R1296K; 14:75030571-75030571	liver	carcinoma	Substitution - Missense
c.2109delA; p.K703fs*31; 14:75047547-75047547	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2465G>A; p.S822N; 14:75047191-75047191	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1621A>G; p.I541V; 14:75048035-75048035	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3887G>A; p.R1296K; 14:75030571-75030571	liver	carcinoma	Substitution - Missense
c.717C>T; p.I239I; 14:75048939-75048939	breast	carcinoma	Substitution - coding silent
c.4114G>A; p.G1372R; 14:75018885-75018885	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2336C>T; p.T779I; 14:75047320-75047320	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.2342A>G; p.N781S; 14:75047314-75047314	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.2342A>G; p.N781S; 14:75047314-75047314	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.4214G>A; p.W1405*; 14:75017158-75017158	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.4214G>A; p.W1405*; 14:75017158-75017158	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.921A>C; p.V307V; 14:75048735-75048735	breast	carcinoma	Substitution - coding silent
c.1174G>A; p.E392K; 14:75048482-75048482	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2679G>T; p.M893I; 14:75046977-75046977	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3593A>C; p.K1198T; 14:75038390-75038390	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2461G>T; p.A821S; 14:75047195-75047195	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1756_1757insA; p.S587fs*2; 14:75047899-75047900	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.1756_1757insA; p.S587fs*2; 14:75047899-75047900	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.2444A>G; p.D815G; 14:75047212-75047212	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3246G>A; p.L1082L; 14:75046410-75046410	urinary_tract; bladder	carcinoma	Substitution - coding silent

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]