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	9510
Symbol	ADAMTS1
Synonymous	C3-C5\|METH1
Full name	ADAM metallopeptidase with thrombospondin type 1 motif, 1
Gene description	A disintegrin and metalloproteinase with thrombospondin motifs 1\|ADAM-TS 1\|ADAM-TS1\|ADAMTS-1\|METH-1\|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1\|human metalloproteinase with thrombospondin type 1 motifs
Cytoband	21q21.2
Gene type	protein-coding
Synonymous	MIM:605174; HGNC:HGNC:217; Ensembl:ENSG00000154734; HPRD:05530; Vega:OTTHUMG00000078688

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2041A>G; p.T681A; 21:26838602-26838602	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.928T>A; p.L310M; 21:26842488-26842488	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1583G>A; p.W528*; 21:26840358-26840358	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2529G>A; p.K843K; 21:26837954-26837954	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1135T>A; p.C379S; 21:26841933-26841933	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.553C>G; p.L185V; 21:26844402-26844402	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1667C>T; p.T556M; 21:26840060-26840060	prostate	carcinoma	Substitution - Missense
c.1028G>T; p.S343I; 21:26842388-26842388	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1667C>T; p.T556M; 21:26840060-26840060	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1044G>A; p.E348E; 21:26842372-26842372	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1538G>C; p.G513A; 21:26840403-26840403	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.370T>G; p.F124V; 21:26844585-26844585	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.679G>C; p.A227P; 21:26844276-26844276	thyroid	other; neoplasm	Substitution - Missense
c.679G>C; p.A227P; 21:26844276-26844276	breast	carcinoma	Substitution - Missense
c.608A>G; p.D203G; 21:26844347-26844347	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1746G>A; p.T582T; 21:26839981-26839981	breast	carcinoma	Substitution - coding silent
c.859T>A; p.S287T; 21:26842557-26842557	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.342G>A; p.P114P; 21:26844613-26844613	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2591G>T; p.G864V; 21:26837892-26837892	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.67C>A; p.R23R; 21:26844888-26844888	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.568C>T; p.R190W; 21:26844387-26844387	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1354A>G; p.T452A; 21:26841022-26841022	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1626C>T; p.N542N; 21:26840315-26840315	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.214G>A; p.G72R; 21:26844741-26844741	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1271A>G; p.N424S; 21:26841105-26841105	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.673G>C; p.E225Q; 21:26844282-26844282	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2172T>A; p.C724*; 21:26838471-26838471	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1886A>G; p.H629R; 21:26839729-26839729	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.158C>G; p.P53R; 21:26844797-26844797	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.807G>A; p.S269S; 21:26842609-26842609	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.807G>A; p.S269S; 21:26842609-26842609	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.807G>A; p.S269S; 21:26842609-26842609	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.154C>T; p.R52C; 21:26844801-26844801	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1562G>A; p.C521Y; 21:26840379-26840379	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.104C>T; p.T35M; 21:26844851-26844851	stomach	adenocarcinoma	Substitution - Missense
c.1583G>C; p.W528S; 21:26840358-26840358	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.988C>T; p.R330W; 21:26842428-26842428	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.988C>T; p.R330W; 21:26842428-26842428	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1323G>A; p.Q441Q; 21:26841053-26841053	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.988C>T; p.R330W; 21:26842428-26842428	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.280A>G; p.S94G; 21:26844675-26844675	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2150G>T; p.C717F; 21:26838493-26838493	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1726G>A; p.G576S; 21:26840001-26840001	breast	carcinoma	Substitution - Missense
c.2626A>C; p.R876R; 21:26837857-26837857	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.638C>T; p.T213I; 21:26844317-26844317	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.638C>T; p.T213I; 21:26844317-26844317	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1667C>A; p.T556K; 21:26840060-26840060	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2143G>T; p.G715C; 21:26838500-26838500	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1853-2A>G; p.?; 21:26839764-26839764	lung	carcinoma; adenocarcinoma	Unknown
c.755G>A; p.R252Q; 21:26842661-26842661	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1157C>T; p.S386F; 21:26841911-26841911	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.755G>A; p.R252Q; 21:26842661-26842661	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1725C>T; p.C575C; 21:26840002-26840002	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.818T>C; p.F273S; 21:26842598-26842598	ovary	carcinoma	Substitution - Missense
c.432C>T; p.G144G; 21:26844523-26844523	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.432C>T; p.G144G; 21:26844523-26844523	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.432C>T; p.G144G; 21:26844523-26844523	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1420C>A; p.P474T; 21:26840521-26840521	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2303T>G; p.L768R; 21:26838180-26838180	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1064T>G; p.L355R; 21:26842352-26842352	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.806C>T; p.S269L; 21:26842610-26842610	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1954G>A; p.V652I; 21:26839661-26839661	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1954G>A; p.V652I; 21:26839661-26839661	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1954G>A; p.V652I; 21:26839661-26839661	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.96A>C; p.P32P; 21:26844859-26844859	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.96A>C; p.P32P; 21:26844859-26844859	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1456C>T; p.R486W; 21:26840485-26840485	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.96A>C; p.P32P; 21:26844859-26844859	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2191G>T; p.V731F; 21:26838452-26838452	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.754C>T; p.R252*; 21:26842662-26842662	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2204+2T>C; p.?; 21:26838437-26838437	lung	carcinoma; adenocarcinoma	Unknown
c.1130C>A; p.T377N; 21:26841938-26841938	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2286G>A; p.R762R; 21:26838197-26838197	pancreas	carcinoma	Substitution - coding silent
c.2783A>T; p.Y928F; 21:26837700-26837700	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2783A>T; p.Y928F; 21:26837700-26837700	urinary_tract; bladder	carcinoma	Substitution - Missense
c.774C>T; p.R258R; 21:26842642-26842642	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2642G>T; p.C881F; 21:26837841-26837841	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2523C>T; p.F841F; 21:26837960-26837960	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.577G>A; p.D193N; 21:26844378-26844378	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1667_1668insA; p.P557fs*31; 21:26840059-26840060	breast	carcinoma	Insertion - Frameshift
c.577G>A; p.D193N; 21:26844378-26844378	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2035G>T; p.D679Y; 21:26838608-26838608	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.287_288insT; p.L96fs*126; 21:26844667-26844668	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2520C>T; p.Y840Y; 21:26837963-26837963	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2108G>A; p.R703H; 21:26838535-26838535	meninges	meningioma; secretory	Substitution - Missense
c.2360C>A; p.T787N; 21:26838123-26838123	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.720A>G; p.G240G; 21:26844235-26844235	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.860C>T; p.S287L; 21:26842556-26842556	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.282_283insT; p.L96fs*126; 21:26844672-26844673	large_intestine; colon	carcinoma	Insertion - Frameshift
c.2823G>A; p.G941G; 21:26837660-26837660	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1211-1G>T; p.?; 21:26841166-26841166	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.1810C>T; p.R604C; 21:26839917-26839917	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.2573G>C; p.W858S; 21:26837910-26837910	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1056A>C; p.T352T; 21:26842360-26842360	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2215C>A; p.H739N; 21:26838268-26838268	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2215C>A; p.H739N; 21:26838268-26838268	breast	carcinoma	Substitution - Missense
c.1923T>C; p.P641P; 21:26839692-26839692	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.967T>A; p.S323T; 21:26842449-26842449	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1664A>C; p.D555A; 21:26840277-26840277	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2543C>A; p.S848Y; 21:26837940-26837940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.95C>A; p.P32Q; 21:26844860-26844860	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2140T>C; p.C714R; 21:26838503-26838503	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2173A>G; p.K725E; 21:26838470-26838470	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1036G>C; p.D346H; 21:26842380-26842380	oesophagus	carcinoma	Substitution - Missense
c.910C>A; p.L304M; 21:26842506-26842506	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.264G>T; p.E88D; 21:26844691-26844691	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.433G>A; p.V145M; 21:26844522-26844522	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.433G>A; p.V145M; 21:26844522-26844522	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1928T>G; p.V643G; 21:26839687-26839687	breast	carcinoma	Substitution - Missense
c.2669C>T; p.S890F; 21:26837814-26837814	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.773G>A; p.R258H; 21:26842643-26842643	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2107C>T; p.R703C; 21:26838536-26838536	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.328G>A; p.G110R; 21:26844627-26844627	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2661G>T; p.Q887H; 21:26837822-26837822	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1152C>A; p.S384R; 21:26841916-26841916	pancreas	carcinoma	Substitution - Missense
c.1800C>G; p.G600G; 21:26839927-26839927	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1907_1908CC>TT; p.S636F; 21:26839707-26839708	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2486G>A; p.G829D; 21:26837997-26837997	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.923A>C; p.K308T; 21:26842493-26842493	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1721C>T; p.T574M; 21:26840006-26840006	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1432_1442del11; p.P478fs*26; 21:26840499-26840509	breast	carcinoma	Deletion - Frameshift
c.1292C>T; p.A431V; 21:26841084-26841084	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2434C>T; p.R812C; 21:26838049-26838049	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2434C>T; p.R812C; 21:26838049-26838049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2434C>T; p.R812C; 21:26838049-26838049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1292C>T; p.A431V; 21:26841084-26841084	ovary	carcinoma	Substitution - Missense
c.2434C>T; p.R812C; 21:26838049-26838049	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2434C>T; p.R812C; 21:26838049-26838049	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.536C>T; p.A179V; 21:26844419-26844419	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.415C>G; p.L139V; 21:26844540-26844540	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1363C>G; p.L455V; 21:26841013-26841013	kidney	other; neoplasm	Substitution - Missense
c.1409C>T; p.P470L; 21:26840532-26840532	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.130C>A; p.L44M; 21:26844825-26844825	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1143G>A; p.P381P; 21:26841925-26841925	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.114_116delGCT; p.L39delL; 21:26844839-26844841	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.384C>T; p.T128T; 21:26844571-26844571	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1056A>G; p.T352T; 21:26842360-26842360	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2544T>C; p.S848S; 21:26837939-26837939	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1272C>G; p.N424K; 21:26841104-26841104	liver	carcinoma	Substitution - Missense
c.1291G>A; p.A431T; 21:26841085-26841085	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1253C>A; p.A418D; 21:26841123-26841123	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1579C>G; p.P527A; 21:26840362-26840362	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1063C>A; p.L355I; 21:26842353-26842353	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1698_1699insG; p.P567fs*21; 21:26840028-26840029	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2509A>G; p.K837E; 21:26837974-26837974	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2822G>A; p.G941E; 21:26837661-26837661	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1588G>A; p.D530N; 21:26840353-26840353	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2556C>G; p.I852M; 21:26837927-26837927	breast	carcinoma	Substitution - Missense
c.1580C>T; p.P527L; 21:26840361-26840361	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.405G>A; p.S135S; 21:26844550-26844550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2098G>A; p.G700S; 21:26838545-26838545	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2729C>T; p.P910L; 21:26837754-26837754	prostate	adenoma	Substitution - Missense
c.1820C>T; p.S607F; 21:26839907-26839907	skin	malignant_melanoma	Substitution - Missense
c.644A>T; p.D215V; 21:26844311-26844311	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.590C>T; p.T197M; 21:26844365-26844365	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1573C>T; p.H525Y; 21:26840368-26840368	skin; extremity	malignant_melanoma	Substitution - Missense
c.944A>C; p.E315A; 21:26842472-26842472	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2051G>T; p.S684I; 21:26838592-26838592	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.701C>T; p.P234L; 21:26844254-26844254	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.701C>T; p.P234L; 21:26844254-26844254	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.689C>T; p.S230L; 21:26844266-26844266	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.2142T>C; p.C714C; 21:26838501-26838501	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2306C>T; p.A769V; 21:26838177-26838177	liver	carcinoma	Substitution - Missense
c.2637A>G; p.V879V; 21:26837846-26837846	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1389G>C; p.L463F; 21:26840552-26840552	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1446C>T; p.Y482Y; 21:26840495-26840495	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2439C>G; p.S813R; 21:26838044-26838044	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1261_1262insA; p.N421fs*37; 21:26841114-26841115	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.1675C>T; p.H559Y; 21:26840052-26840052	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1753delG; p.E585fs*94; 21:26839974-26839974	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.335A>G; p.E112G; 21:26844620-26844620	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1665+1G>T; p.?; 21:26840275-26840275	lung	carcinoma; adenocarcinoma	Unknown
c.1718G>C; p.R573T; 21:26840009-26840009	breast	carcinoma	Substitution - Missense
c.1311G>T; p.L437L; 21:26841065-26841065	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2779G>A; p.G927S; 21:26837704-26837704	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2335C>T; p.L779F; 21:26838148-26838148	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.200G>A; p.R67H; 21:26844755-26844755	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.652G>A; p.E218K; 21:26844303-26844303	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.899A>G; p.N300S; 21:26842517-26842517	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.748A>C; p.K250Q; 21:26842668-26842668	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2812C>T; p.H938Y; 21:26837671-26837671	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.748A>C; p.K250Q; 21:26842668-26842668	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1619G>A; p.C540Y; 21:26840322-26840322	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1159G>A; p.V387I; 21:26841909-26841909	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1320C>A; p.S440R; 21:26841056-26841056	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2008T>G; p.F670V; 21:26839607-26839607	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.477G>A; p.Q159Q; 21:26844478-26844478	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2365G>C; p.E789Q; 21:26838118-26838118	skin	malignant_melanoma	Substitution - Missense
c.2431A>T; p.I811F; 21:26838052-26838052	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.627G>A; p.G209G; 21:26844328-26844328	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2141G>T; p.C714F; 21:26838502-26838502	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2141G>T; p.C714F; 21:26838502-26838502	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2284A>T; p.R762W; 21:26838199-26838199	central_nervous_system; brain	glioma	Substitution - Missense
c.2790A>C; p.K930N; 21:26837693-26837693	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2141G>T; p.C714F; 21:26838502-26838502	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.521G>A; p.G174E; 21:26844434-26844434	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1505C>T; p.A502V; 21:26840436-26840436	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.822C>T; p.H274H; 21:26842594-26842594	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.822C>T; p.H274H; 21:26842594-26842594	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1648G>A; p.D550N; 21:26840293-26840293	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.822C>T; p.H274H; 21:26842594-26842594	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2005T>A; p.Y669N; 21:26839610-26839610	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1648G>A; p.D550N; 21:26840293-26840293	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1766C>G; p.P589R; 21:26839961-26839961	breast	carcinoma	Substitution - Missense
c.1560G>T; p.V520V; 21:26840381-26840381	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1970G>A; p.R657K; 21:26839645-26839645	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.582C>A; p.V194V; 21:26844373-26844373	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.582C>A; p.V194V; 21:26844373-26844373	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.582C>A; p.V194V; 21:26844373-26844373	thyroid	other; neoplasm	Substitution - coding silent
c.582C>A; p.V194V; 21:26844373-26844373	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1158C>T; p.S386S; 21:26841910-26841910	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1436G>T; p.G479V; 21:26840505-26840505	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.600C>G; p.V200V; 21:26844355-26844355	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.600C>G; p.V200V; 21:26844355-26844355	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.462G>T; p.E154D; 21:26844493-26844493	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1745C>T; p.T582M; 21:26839982-26839982	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2089_2090delGT; p.V697fs*5; 21:26838553-26838554	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2207C>T; p.P736L; 21:26838276-26838276	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.352A>G; p.T118A; 21:26844603-26844603	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2313A>C; p.K771N; 21:26838170-26838170	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2371G>C; p.D791H; 21:26838112-26838112	NS	malignant_melanoma	Substitution - Missense
c.2371G>C; p.D791H; 21:26838112-26838112	NS	malignant_melanoma	Substitution - Missense
c.2064C>T; p.T688T; 21:26838579-26838579	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.832C>T; p.L278L; 21:26842584-26842584	breast	carcinoma	Substitution - coding silent
c.1652G>T; p.R551I; 21:26840289-26840289	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2726G>A; p.C909Y; 21:26837757-26837757	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1675C>A; p.H559N; 21:26840052-26840052	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1141C>A; p.P381T; 21:26841927-26841927	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.423C>T; p.L141L; 21:26844532-26844532	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1804C>T; p.R602*; 21:26839923-26839923	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.189G>A; p.P63P; 21:26844766-26844766	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1500C>T; p.P500P; 21:26840441-26840441	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.336G>C; p.E112D; 21:26844619-26844619	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.869_870CC>AA; p.A290E; 21:26842546-26842547	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2577C>A; p.V859V; 21:26837906-26837906	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1221_1222insT; p.N408fs*1; 21:26841154-26841155	ovary	carcinoma; serous_carcinoma	Insertion - Frameshift
c.1280C>A; p.S427Y; 21:26841096-26841096	haematopoietic_and_lymphoid_tissue; breast	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2014G>C; p.V672L; 21:26839601-26839601	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.504C>A; p.L168L; 21:26844451-26844451	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.2314G>C; p.A772P; 21:26838169-26838169	meninges	meningioma	Substitution - Missense
c.1949C>T; p.A650V; 21:26839666-26839666	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation