Entrez Gene

Basic Information
Gene ID	4292
Name	MLH1
Synonymous	mutL homolog 1;MLH1;mutL homolog 1
Definition	DNA mismatch repair protein Mlh1\|mutL homolog 1, colon cancer, nonpolyposis type 2
Position	3p21.3
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 0.30.

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.677G>A; p.R226Q; 3:37012099-37012099	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.677G>A; p.R226Q; 3:37012099-37012099	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.677G>A; p.R226Q; 3:37012099-37012099	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.677G>A; p.R226Q; 3:37012099-37012099	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.677G>A; p.R226Q; 3:37012099-37012099	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.677G>A; p.R226Q; 3:37012099-37012099	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1151T>C; p.V384A; 3:37025749-37025749	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.872_873insT; p.L292fs*15; 3:37017587-37017588	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1099A>G; p.T367A; 3:37025697-37025697	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.4T>C; p.S2P; 3:36993551-36993551	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1497delG; p.I500fs*8; 3:37028871-37028871	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1151T>C; p.V384A; 3:37025749-37025749	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1151T>C; p.V384A; 3:37025749-37025749	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1768T>A; p.L590I; 3:37047555-37047555	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.324C>G; p.S108R; 3:37004418-37004418	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.937G>T; p.E313*; 3:37020362-37020362	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.206G>A; p.R69K; 3:36996708-36996708	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.132C>T; p.S44S; 3:36996634-36996634	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.376T>A; p.Y126N; 3:37004470-37004470	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1983C>A; p.A661A; 3:37048603-37048603	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.790+1G>A; p.?; 3:37014545-37014545	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.790+1G>A; p.?; 3:37014545-37014545	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.790+1G>A; p.?; 3:37014545-37014545	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Unknown
c.790+1G>A; p.?; 3:37014545-37014545	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Unknown
c.711C>T; p.T237T; 3:37014465-37014465	skin	malignant_melanoma	Substitution - coding silent
c.2029_2033delAGTAA; p.S677fs*15; 3:37048943-37048947	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.628G>A; p.A210T; 3:37012050-37012050	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.943C>T; p.H315Y; 3:37020368-37020368	skin	malignant_melanoma	Substitution - Missense
c.317G>A; p.S106N; 3:37004411-37004411	central_nervous_system; brain	glioma	Substitution - Missense
c.583delA; p.K196fs*6; 3:37011857-37011857	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.583delA; p.K196fs*6; 3:37011857-37011857	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.302G>A; p.G101D; 3:37001049-37001049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.472A>T; p.N158Y; 3:37008832-37008832	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.454G>A; p.V152M; 3:37008814-37008814	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.207+1G>A; p.?; 3:36996710-36996710	large_intestine	carcinoma; adenocarcinoma	Unknown
c.1513delA; p.S505fs*3; 3:37028887-37028887	ovary	carcinoma	Deletion - Frameshift
c.1563C>T; p.L521L; 3:37040190-37040190	skin	malignant_melanoma	Substitution - coding silent
c.1520T>A; p.L507*; 3:37028894-37028894	skin	malignant_melanoma	Substitution - Nonsense
c.1032C>T; p.F344F; 3:37020457-37020457	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.582_583insA; p.Q197fs*7; 3:37011856-37011857	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.791-2A>G; p.?; 3:37017504-37017504	large_intestine; rectum	carcinoma; adenocarcinoma	Unknown
c.2260G>C; p.E754Q; 3:37050642-37050642	urinary_tract; bladder	carcinoma	Substitution - Missense
c.472A>C; p.N158H; 3:37008832-37008832	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1941_1942insC; p.L650fs*14; 3:37048561-37048562	liver	carcinoma	Insertion - Frameshift
c.358G>T; p.A120S; 3:37004452-37004452	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.198C>A; p.T66T; 3:36996700-36996700	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.358G>T; p.A120S; 3:37004452-37004452	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.358G>T; p.A120S; 3:37004452-37004452	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1852_1854delAAG; p.K618del; 3:37047639-37047641	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.1889T>G; p.I630S; 3:37047676-37047676	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.117-2A>T; p.?; 3:36996617-36996617	prostate	carcinoma; adenocarcinoma	Unknown
c.856delA; p.N287fs*10; 3:37017571-37017571	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.298C>T; p.R100*; 3:37001045-37001045	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Nonsense
c.298C>T; p.R100*; 3:37001045-37001045	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.1988_1989delAG; p.E663fs*11; 3:37048608-37048609	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2147T>G; p.V716G; 3:37050529-37050529	liver	carcinoma	Substitution - Missense
c.2147T>G; p.V716G; 3:37050529-37050529	liver	carcinoma	Substitution - Missense
c.723A>C; p.K241N; 3:37014477-37014477	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.588+5G>T; p.?; 3:37011867-37011867	large_intestine	carcinoma; adenocarcinoma	Unknown
c.303T>C; p.G101G; 3:37001050-37001050	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.303T>C; p.G101G; 3:37001050-37001050	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.42A>C; p.T14T; 3:36993589-36993589	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2033_2046del14; p.K678fs*11; 3:37048947-37048960	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.26G>A; p.R9Q; 3:36993573-36993573	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.559A>G; p.N187D; 3:37011833-37011833	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.471C>A; p.Y157*; 3:37008831-37008831	autonomic_ganglia	neuroblastoma	Substitution - Nonsense
c.325C>G; p.H109D; 3:37004419-37004419	prostate	carcinoma	Substitution - Missense
c.1788C>T; p.G596G; 3:37047575-37047575	endometrium	carcinoma	Substitution - coding silent
c.588_588delA; p.K196fs*6; 3:37011862-37011862	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.331G>C; p.A111P; 3:37004425-37004425	breast	carcinoma	Substitution - Missense
c.2157T>C; p.I719I; 3:37050539-37050539	liver	carcinoma	Substitution - coding silent
c.1564C>T; p.R522W; 3:37040191-37040191	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.812C>T; p.S271F; 3:37017527-37017527	skin	malignant_melanoma	Substitution - Missense
c.1151T>G; p.V384G; 3:37025749-37025749	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1564C>T; p.R522W; 3:37040191-37040191	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1564C>T; p.R522W; 3:37040191-37040191	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1564C>T; p.R522W; 3:37040191-37040191	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2157T>C; p.I719I; 3:37050539-37050539	liver	carcinoma	Substitution - coding silent
c.1154G>A; p.R385H; 3:37025752-37025752	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.199G>T; p.G67W; 3:36996701-36996701	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1458_1459CC>TT; p.R487*; 3:37028832-37028833	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.903G>A; p.Q301Q; 3:37020328-37020328	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.780C>T; p.L260L; 3:37014534-37014534	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1489_1490insC; p.R497fs*6; 3:37028863-37028864	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1897_1904delGAAGGGAA; p.?; 3:37048514-37048524	large_intestine	carcinoma; adenocarcinoma	Unknown
c.1744C>G; p.L582V; 3:37047531-37047531	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.52C>T; p.R18C; 3:36993599-36993599	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.472A>G; p.N158D; 3:37008832-37008832	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.472A>G; p.N158D; 3:37008832-37008832	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.697T>C; p.C233R; 3:37014451-37014451	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.697T>C; p.C233R; 3:37014451-37014451	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2041G>A; p.A681T; 3:37048955-37048955	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.697T>C; p.C233R; 3:37014451-37014451	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1369G>C; p.E457Q; 3:37025967-37025967	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1732-1G>A; p.?; 3:37047518-37047518	skin; leg	malignant_melanoma; nodular	Unknown
c.676C>A; p.R226R; 3:37012098-37012098	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.967C>A; p.L323M; 3:37020392-37020392	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1732-1G>A; p.?; 3:37047518-37047518	skin; leg	malignant_melanoma; nodular	Unknown
c.5C>A; p.S2*; 3:36993552-36993552	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1565G>T; p.R522L; 3:37040192-37040192	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.37G>A; p.E13K; 3:36993584-36993584	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1648C>A; p.L550I; 3:37040275-37040275	breast	carcinoma	Substitution - Missense
c.1959G>T; p.L653L; 3:37048579-37048579	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.611T>C; p.V204A; 3:37012033-37012033	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1972C>A; p.L658I; 3:37048592-37048592	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.122A>G; p.D41G; 3:36996624-36996624	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.145_148delGTGA; p.V49fs*7; 3:36996647-36996650	endometrium	carcinoma	Deletion - Frameshift
c.2171T>G; p.L724W; 3:37050553-37050553	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1628A>G; p.H543R; 3:37040255-37040255	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1523G>A; p.S508N; 3:37028897-37028897	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1040C>T; p.T347I; 3:37025638-37025638	skin	malignant_melanoma	Substitution - Missense
c.292G>T; p.G98C; 3:37001039-37001039	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2104-1G>C; p.?; 3:37050485-37050485	upper_aerodigestive_tract; mouth	carcinoma	Unknown
c.2104-1G>C; p.?; 3:37050485-37050485	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Unknown
c.514G>A; p.E172K; 3:37008874-37008874	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.514G>A; p.E172K; 3:37008874-37008874	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.514G>A; p.E172K; 3:37008874-37008874	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.793C>T; p.R265C; 3:37017508-37017508	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.46G>A; p.V16M; 3:36993593-36993593	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.793C>T; p.R265C; 3:37017508-37017508	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.649C>T; p.R217C; 3:37012071-37012071	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2271A>G; p.757; 3:37050653-37050653	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.649C>T; p.R217C; 3:37012071-37012071	skin	malignant_melanoma	Substitution - Missense
c.790+10A>G; p.?; 3:37014554-37014554	large_intestine	carcinoma; adenocarcinoma	Unknown
c.1975C>T; p.R659*; 3:37048595-37048595	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1975C>T; p.R659*; 3:37048595-37048595	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1975C>T; p.R659*; 3:37048595-37048595	skin	malignant_melanoma	Substitution - Nonsense
c.1975C>T; p.R659*; 3:37048595-37048595	skin	malignant_melanoma	Substitution - Nonsense
c.1070G>C; p.G357A; 3:37025668-37025668	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1310C>T; p.P437L; 3:37025908-37025908	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.676C>T; p.R226*; 3:37012098-37012098	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.560A>G; p.N187S; 3:37011834-37011834	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.762G>C; p.K254N; 3:37014516-37014516	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1501A>G; p.I501V; 3:37028875-37028875	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.207G>A; p.R69R; 3:36996709-36996709	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1763T>G; p.L588R; 3:37047550-37047550	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1891G>C; p.D631H; 3:37047678-37047678	breast	carcinoma	Substitution - Missense
c.207G>A; p.R69R; 3:36996709-36996709	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.391T>C; p.S131P; 3:37007001-37007001	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1731+2T>C; p.?; 3:37042333-37042333	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.974G>A; p.R325Q; 3:37020399-37020399	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.974G>A; p.R325Q; 3:37020399-37020399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.561T>C; p.N187N; 3:37011835-37011835	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.199G>A; p.G67R; 3:36996701-36996701	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.561T>C; p.N187N; 3:37011835-37011835	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2141G>A; p.W714*; 3:37050523-37050523	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.121G>T; p.D41Y; 3:36996623-36996623	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.679G>T; p.E227*; 3:37014433-37014433	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1460G>A; p.R487Q; 3:37028834-37028834	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2271A>T; p.*757?; 3:37050653-37050653	large_intestine	carcinoma; adenocarcinoma	Nonstop extension
c.1151T>A; p.V384D; 3:37025749-37025749	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1151T>A; p.V384D; 3:37025749-37025749	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1151T>A; p.V384D; 3:37025749-37025749	ovary	carcinoma	Substitution - Missense
c.975G>A; p.R325R; 3:37020400-37020400	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1151T>A; p.V384D; 3:37025749-37025749	ovary	carcinoma	Substitution - Missense
c.1151T>A; p.V384D; 3:37025749-37025749	ovary	carcinoma	Substitution - Missense
c.1151T>A; p.V384D; 3:37025749-37025749	pancreas; ampulla_of_Vater	carcinoma; ductal_carcinoma	Substitution - Missense
c.1151T>A; p.V384D; 3:37025749-37025749	ovary	carcinoma	Substitution - Missense
c.1151T>A; p.V384D; 3:37025749-37025749	ovary	carcinoma	Substitution - Missense
c.1151T>A; p.V384D; 3:37025749-37025749	ovary	carcinoma	Substitution - Missense
c.1151T>A; p.V384D; 3:37025749-37025749	ovary	carcinoma	Substitution - Missense
c.1151T>A; p.V384D; 3:37025749-37025749	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1151T>A; p.V384D; 3:37025749-37025749	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1151T>A; p.V384D; 3:37025749-37025749	ovary	carcinoma	Substitution - Missense
c.755C>A; p.S252*; 3:37014509-37014509	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.755C>A; p.S252*; 3:37014509-37014509	large_intestine; colon	carcinoma	Substitution - Nonsense
c.755C>A; p.S252*; 3:37014509-37014509	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1038+3C>G; p.?; 3:37020466-37020466	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1559-9insG; p.?; 3:37040177-37040178	large_intestine	carcinoma; adenocarcinoma	Unknown
c.741C>T; p.S247S; 3:37014495-37014495	skin	malignant_melanoma	Substitution - coding silent
c.354A>C; p.K118N; 3:37004448-37004448	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2108A>C; p.E703A; 3:37050490-37050490	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1896+1G>A; p.?; 3:37047684-37047684	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1896+1G>A; p.?; 3:37047684-37047684	large_intestine	carcinoma; adenocarcinoma	Unknown
c.2194A>T; p.K732*; 3:37050576-37050576	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1460G>T; p.R487L; 3:37028834-37028834	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1923T>C; p.L641L; 3:37048543-37048543	liver	carcinoma	Substitution - coding silent
c.1923T>C; p.L641L; 3:37048543-37048543	liver	carcinoma	Substitution - coding silent
c.2232T>C; p.A744A; 3:37050614-37050614	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.546-32T>C; p.?; 3:37011788-37011788	large_intestine	carcinoma; adenocarcinoma	Unknown
c.700G>T; p.E234*; 3:37014454-37014454	liver	carcinoma	Substitution - Nonsense
c.1567G>A; p.E523K; 3:37040194-37040194	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.162A>G; p.G54G; 3:36996664-36996664	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.162A>G; p.G54G; 3:36996664-36996664	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.129delA; p.K43fs*7; 3:36996631-36996631	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1484delC; p.R497fs*11; 3:37028858-37028858	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.162A>G; p.G54G; 3:36996664-36996664	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2172G>A; p.L724L; 3:37050554-37050554	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2093C>T; p.S698L; 3:37049007-37049007	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1142A>G; p.H381R; 3:37025740-37025740	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.755C>G; p.S252*; 3:37014509-37014509	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.872delT; p.F291fs*6; 3:37017587-37017587	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1852A>G; p.K618E; 3:37047639-37047639	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.505C>G; p.P169A; 3:37008865-37008865	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.2100G>A; p.Q700Q; 3:37049014-37049014	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2269T>A; p.*757K; 3:37050651-37050651	breast	carcinoma	Nonstop extension
c.1318G>A; p.V440M; 3:37025916-37025916	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2020G>T; p.E674*; 3:37048934-37048934	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.882C>T; p.L294L; 3:37017597-37017597	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1731G>A; p.S556fs*14; 3:37042331-37042331	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1731G>A; p.S556fs*14; 3:37042331-37042331	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1590delC; p.F530fs*5; 3:37040217-37040217	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.300A>G; p.R100R; 3:37001047-37001047	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1731G>A; p.S556fs*14; 3:37042331-37042331	large_intestine; right	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1731G>A; p.S556fs*14; 3:37042331-37042331	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1731G>A; p.S556fs*14; 3:37042331-37042331	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1731G>A; p.S556fs*14; 3:37042331-37042331	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.731G>A; p.G244D; 3:37014485-37014485	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1759A>G; p.M587V; 3:37047546-37047546	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1759A>G; p.M587V; 3:37047546-37047546	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1759A>G; p.M587V; 3:37047546-37047546	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.100G>T; p.E34*; 3:36993647-36993647	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1459C>T; p.R487*; 3:37028833-37028833	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1759A>G; p.M587V; 3:37047546-37047546	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1580A>G; p.N527S; 3:37040207-37040207	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1792_1794delACA; p.T598delT; 3:37047579-37047581	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - In frame
c.1626G>A; p.Q542Q; 3:37040253-37040253	thyroid	carcinoma; anaplastic_carcinoma	Substitution - coding silent
c.31C>T; p.L11L; 3:36993578-36993578	skin	malignant_melanoma	Substitution - coding silent
c.1668_1731del64; p.?; 3:37042268-37042331	breast	carcinoma; ductal_carcinoma	Unknown
c.2042C>T; p.A681V; 3:37048956-37048956	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1035C>G; p.T345T; 3:37020460-37020460	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.307-1G>T; p.?; 3:37004400-37004400	lung	carcinoma; adenocarcinoma	Unknown
c.1229C>G; p.A410G; 3:37025827-37025827	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.473A>G; p.N158S; 3:37008833-37008833	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.473A>G; p.N158S; 3:37008833-37008833	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.473A>G; p.N158S; 3:37008833-37008833	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2087delC; p.L697fs*>60; 3:37049001-37049001	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2060G>A; p.R687Q; 3:37048974-37048974	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.142C>G; p.Q48E; 3:36996644-36996644	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2010G>T; p.K670N; 3:37048924-37048924	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.729T>C; p.N243N; 3:37014483-37014483	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.677+1G>A; p.?; 3:37012100-37012100	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1959G>A; p.L653L; 3:37048579-37048579	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1650C>G; p.L550L; 3:37040277-37040277	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.265G>A; p.E89K; 3:37001012-37001012	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.1959G>A; p.L653L; 3:37048579-37048579	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.655A>G; p.I219V; 3:37012077-37012077	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.30G>C; p.R10R; 3:36993577-36993577	prostate	carcinoma	Substitution - coding silent
c.274G>A; p.A92T; 3:37001021-37001021	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1483_1484insC; p.R497fs*6; 3:37028857-37028858	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1853A>G; p.K618R; 3:37047640-37047640	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1853A>G; p.K618R; 3:37047640-37047640	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.543C>T; p.G181G; 3:37008903-37008903	pancreas	carcinoma	Substitution - coding silent
c.1853A>G; p.K618R; 3:37047640-37047640	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.551C>A; p.S184*; 3:37011825-37011825	kidney	other; neoplasm	Substitution - Nonsense
c.1103C>T; p.S368L; 3:37025701-37025701	skin	malignant_melanoma	Substitution - Missense
c.1569G>T; p.E523D; 3:37040196-37040196	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.580G>A; p.V194I; 3:37011854-37011854	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2154_2155insT; p.I719fs*4; 3:37050536-37050537	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.769delA; p.I257fs*11; 3:37014523-37014523	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.323G>A; p.S108N; 3:37004417-37004417	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1225C>T; p.Q409*; 3:37025823-37025823	pancreas	carcinoma	Substitution - Nonsense
c.1225C>T; p.Q409*; 3:37025823-37025823	pancreas	carcinoma	Substitution - Nonsense
c.290A>G; p.Y97C; 3:37001037-37001037	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.738_750del13; p.S247fs*3; 3:37014492-37014504	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2035G>T; p.E679*; 3:37048949-37048949	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2064G>A; p.K688K; 3:37048978-37048978	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.161G>A; p.G54E; 3:36996663-36996663	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1153C>T; p.R385C; 3:37025751-37025751	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1153C>T; p.R385C; 3:37025751-37025751	haematopoietic_and_lymphoid_tissue; skin	haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm	Substitution - Missense
c.731G>T; p.G244V; 3:37014485-37014485	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.304G>T; p.E102*; 3:37001051-37001051	breast	carcinoma	Substitution - Nonsense
c.2170T>C; p.L724L; 3:37050552-37050552	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.57C>T; p.I19I; 3:36993604-36993604	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2170T>C; p.L724L; 3:37050552-37050552	large_intestine; rectum	NS	Substitution - coding silent
c.1039-1G>C; p.?; 3:37025636-37025636	breast	carcinoma	Unknown
c.11T>C; p.V4A; 3:36993558-36993558	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1738G>A; p.A580T; 3:37047525-37047525	soft_tissue; striated_muscle	rhabdomyosarcoma; alveolar	Substitution - Missense
c.955G>A; p.E319K; 3:37020380-37020380	oesophagus	carcinoma	Substitution - Missense
c.1483A>G; p.T495A; 3:37028857-37028857	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.1738G>A; p.A580T; 3:37047525-37047525	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.117-2A>G; p.?; 3:36996617-36996617	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.579A>G; p.S193S; 3:37011853-37011853	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.755C>T; p.S252L; 3:37014509-37014509	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.153T>A; p.V51V; 3:36996655-36996655	liver	carcinoma	Substitution - coding silent
c.2126C>A; p.P709Q; 3:37050508-37050508	breast	carcinoma	Substitution - Missense
c.1152T>C; p.V384V; 3:37025750-37025750	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.322A>G; p.S108G; 3:37004416-37004416	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.559A>T; p.N187Y; 3:37011833-37011833	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1189delC; p.L397fs*4; 3:37025787-37025787	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.214G>T; p.D72Y; 3:37000961-37000961	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1568A>G; p.E523G; 3:37040195-37040195	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1044G>A; p.L348L; 3:37025642-37025642	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1853A>C; p.K618T; 3:37047640-37047640	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.793delC; p.R265fs*3; 3:37017508-37017508	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5C>T; p.S2L; 3:36993552-36993552	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.474C>T; p.N158N; 3:37008834-37008834	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1406C>T; p.P469L; 3:37026004-37026004	NS	carcinoma	Substitution - Missense
c.1845_1847delGAA; p.K618delK; 3:37047632-37047634	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.1695T>G; p.I565M; 3:37042295-37042295	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1845_1847delGAA; p.K618delK; 3:37047632-37047634	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.2174G>A; p.R725H; 3:37050556-37050556	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.603delA; p.A202fs*27; 3:37012025-37012025	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.179A>C; p.Q60P; 3:36996681-36996681	central_nervous_system; brain	glioma	Substitution - Missense
c.1529_1539del11; p.E511fs*1; 3:37028903-37028913	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift

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]