lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	4292
Symbol	MLH1
Synonymous	COCA2\|FCC2\|HNPCC\|HNPCC2\|hMLH1
Full name	mutL homolog 1
Gene description	DNA mismatch repair protein Mlh1\|mutL homolog 1, colon cancer, nonpolyposis type 2
Cytoband	3p21.3
Gene type	protein-coding
Synonymous	MIM:120436; HGNC:HGNC:7127; Ensembl:ENSG00000076242; HPRD:00390; Vega:OTTHUMG00000130797

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
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

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation