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	3778
Symbol	KCNMA1
Synonymous	BKTM\|KCa1.1\|MaxiK\|SAKCA\|SLO\|SLO-ALPHA\|SLO1\|bA205K10.1\|mSLO1
Full name	potassium channel, calcium activated large conductance subfamily M alpha, member 1
Gene description	BK channel alpha subunit\|BKCA alpha subunit\|big potassium channel alpha subunit\|calcium-activated potassium channel subunit alpha-1\|calcium-activated potassium channel, subfamily M subunit alpha-1\|hSlo\|k(VCA)alpha\|maxi-K channel HSLO\|potassium large condu
Cytoband	10q22.3
Gene type	protein-coding
Synonymous	MIM:600150; HGNC:HGNC:6284; Ensembl:ENSG00000156113; HPRD:15967; Vega:OTTHUMG00000018543

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2901A>G; p.E967E; 10:76910038-76910038	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2080G>T; p.G694C; 10:77011979-77011979	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.404C>G; p.S135*; 10:77403998-77403998	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.468C>T; p.V156V; 10:77403934-77403934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2005G>A; p.E669K; 10:77019023-77019023	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1070A>T; p.D357V; 10:77110234-77110234	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.404C>G; p.S135*; 10:77403998-77403998	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.2132_2133insA; p.Q712fs*15; 10:76970027-76970028	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2132_2133insA; p.Q712fs*15; 10:76970027-76970028	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2132_2133insA; p.Q712fs*15; 10:76970027-76970028	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2132_2133insA; p.Q712fs*15; 10:76970027-76970028	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2552G>A; p.R851Q; 10:76944949-76944949	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3491G>T; p.R1164M; 10:76887312-76887312	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1373G>A; p.R458Q; 10:77086555-77086555	skin	malignant_melanoma	Substitution - Missense
c.1859+4A>G; p.?; 10:77039524-77039524	liver	carcinoma	Unknown
c.1373G>A; p.R458Q; 10:77086555-77086555	skin	malignant_melanoma	Substitution - Missense
c.2889C>T; p.D963D; 10:76910050-76910050	skin	malignant_melanoma	Substitution - coding silent
c.1859+4A>G; p.?; 10:77039524-77039524	liver	carcinoma	Unknown
c.3080G>C; p.G1027A; 10:76891613-76891613	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.812T>G; p.L271W; 10:77121045-77121045	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1512G>A; p.S504S; 10:77084648-77084648	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1512G>A; p.S504S; 10:77084648-77084648	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1512G>A; p.S504S; 10:77084648-77084648	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1512G>A; p.S504S; 10:77084648-77084648	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3328C>T; p.P1110S; 10:76887475-76887475	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2314C>T; p.R772*; 10:76949363-76949363	skin	malignant_melanoma	Substitution - Nonsense
c.352T>C; p.C118R; 10:77637291-77637291	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1559G>T; p.R520I; 10:77079515-77079515	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2595C>T; p.C865C; 10:76944906-76944906	pancreas	carcinoma	Substitution - coding silent
c.2015G>A; p.R672K; 10:77019013-77019013	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.953T>C; p.I318T; 10:77112374-77112374	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2475T>C; p.I825I; 10:76949202-76949202	breast	carcinoma	Substitution - coding silent
c.2699G>A; p.S900N; 10:76944802-76944802	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3429G>T; p.K1143N; 10:76887374-76887374	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.592G>T; p.D198Y; 10:77251205-77251205	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1500G>A; p.A500A; 10:77084660-77084660	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3261C>T; p.L1087L; 10:76889477-76889477	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2448C>G; p.L816L; 10:76949229-76949229	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1307T>C; p.V436A; 10:77090427-77090427	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3284A>C; p.K1095T; 10:76889454-76889454	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1189T>C; p.Y397H; 10:77108515-77108515	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2918C>G; p.P973R; 10:76910021-76910021	oesophagus	carcinoma	Substitution - Missense
c.2046T>C; p.D682D; 10:77012013-77012013	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1928G>A; p.R643H; 10:77027823-77027823	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2488C>T; p.R830W; 10:76949189-76949189	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.233C>T; p.P78L; 10:77637410-77637410	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2764G>A; p.D922N; 10:76915014-76915014	skin	malignant_melanoma	Substitution - Missense
c.756C>T; p.F252F; 10:77183473-77183473	skin	malignant_melanoma	Substitution - coding silent
c.2076delA; p.K692fs*36; 10:77011983-77011983	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2076delA; p.K692fs*36; 10:77011983-77011983	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2076delA; p.K692fs*36; 10:77011983-77011983	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1150G>A; p.V384I; 10:77108554-77108554	pancreas	NS	Substitution - Missense
c.2076delA; p.K692fs*36; 10:77011983-77011983	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.338A>C; p.Y113S; 10:77637305-77637305	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1028T>C; p.V343A; 10:77110276-77110276	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2847C>T; p.N949N; 10:76910092-76910092	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2373C>T; p.D791D; 10:76949304-76949304	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2585G>A; p.C862Y; 10:76944916-76944916	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3414G>A; p.S1138S; 10:76887389-76887389	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.756C>A; p.F252L; 10:77183473-77183473	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.514G>A; p.A172T; 10:77403888-77403888	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2419C>T; p.R807C; 10:76949258-76949258	skin	malignant_melanoma	Substitution - Missense
c.2812G>A; p.G938R; 10:76914966-76914966	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3319G>T; p.E1107*; 10:76887484-76887484	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2376_2377CA>TG; p.S793G; 10:76949300-76949301	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2376_2377CA>TG; p.S793G; 10:76949300-76949301	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3305C>T; p.P1102L; 10:76887498-76887498	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2391C>T; p.I797I; 10:76949286-76949286	skin	malignant_melanoma	Substitution - coding silent
c.945C>T; p.A315A; 10:77112382-77112382	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2944G>A; p.V982I; 10:76909995-76909995	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1734G>T; p.M578I; 10:77073112-77073112	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.282C>T; p.S94S; 10:77637361-77637361	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2186+1G>A; p.?; 10:76969973-76969973	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2338C>T; p.L780L; 10:76949339-76949339	liver	carcinoma	Substitution - coding silent
c.2338C>T; p.L780L; 10:76949339-76949339	liver	carcinoma	Substitution - coding silent
c.2338C>T; p.L780L; 10:76949339-76949339	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1061G>A; p.G354D; 10:77110243-77110243	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.790T>G; p.L264V; 10:77183439-77183439	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3270C>T; p.P1090P; 10:76889468-76889468	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2399G>A; p.R800Q; 10:76949278-76949278	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2399G>A; p.R800Q; 10:76949278-76949278	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2399G>A; p.R800Q; 10:76949278-76949278	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3325G>T; p.V1109L; 10:76887478-76887478	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.659C>G; p.A220G; 10:77184860-77184860	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Substitution - Missense
c.2275T>C; p.W759R; 10:76953836-76953836	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3325G>T; p.V1109L; 10:76887478-76887478	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.135_137delCTC; p.S60delS; 10:77637506-77637508	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.2352C>T; p.V784V; 10:76949325-76949325	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2352C>T; p.V784V; 10:76949325-76949325	thyroid	other; neoplasm	Substitution - coding silent
c.1685G>A; p.S562N; 10:77073161-77073161	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1231G>A; p.V411M; 10:77090503-77090503	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2912C>T; p.T971M; 10:76910027-76910027	pancreas	carcinoma	Substitution - Missense
c.3122G>A; p.R1041H; 10:76891571-76891571	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.670T>G; p.F224V; 10:77184849-77184849	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2189A>G; p.H730R; 10:76953922-76953922	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3116G>A; p.R1039H; 10:76891577-76891577	haematopoietic_and_lymphoid_tissue; abdomen	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2311-2A>G; p.?; 10:76949368-76949368	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.722G>A; p.W241*; 10:77183507-77183507	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1830C>T; p.F610F; 10:77039557-77039557	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.652G>A; p.D218N; 10:77184867-77184867	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1830C>T; p.F610F; 10:77039557-77039557	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1990G>A; p.A664T; 10:77019038-77019038	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2108C>T; p.P703L; 10:76970052-76970052	urinary_tract; bladder	carcinoma	Substitution - Missense
c.149C>A; p.S50Y; 10:77637494-77637494	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3161A>G; p.D1054G; 10:76891532-76891532	breast	carcinoma	Substitution - Missense
c.3489C>T; p.S1163S; 10:76887314-76887314	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3532C>T; p.L1178F; 10:76887271-76887271	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3121C>T; p.R1041C; 10:76891572-76891572	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1407C>T; p.S469S; 10:77086521-77086521	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2187G>T; p.R729S; 10:76953924-76953924	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2298G>T; p.E766D; 10:76953813-76953813	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2093T>A; p.L698H; 10:76970067-76970067	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1342C>T; p.P448S; 10:77086586-77086586	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2815G>A; p.V939I; 10:76914963-76914963	prostate	carcinoma	Substitution - Missense
c.602A>C; p.N201T; 10:77251195-77251195	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1973C>T; p.T658I; 10:77019055-77019055	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2774C>A; p.P925Q; 10:76915004-76915004	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3255T>A; p.A1085A; 10:76889483-76889483	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1424A>C; p.D475A; 10:77086504-77086504	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2043T>C; p.H681H; 10:77012016-77012016	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.541-1G>A; p.?; 10:77251257-77251257	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.541-1G>A; p.?; 10:77251257-77251257	thyroid	carcinoma	Unknown
c.1154C>A; p.P385H; 10:77108550-77108550	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2154G>A; p.R718R; 10:76970006-76970006	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.639C>T; p.F213F; 10:77184880-77184880	breast	carcinoma; HER-positive_carcinoma	Substitution - coding silent
c.3425G>A; p.S1142N; 10:76887378-76887378	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1257G>A; p.E419E; 10:77090477-77090477	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.324G>A; p.W108*; 10:77637319-77637319	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2056G>A; p.D686N; 10:77012003-77012003	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3478C>T; p.R1160W; 10:76887325-76887325	skin	malignant_melanoma	Substitution - Missense
c.3093G>A; p.P1031P; 10:76891600-76891600	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3093G>A; p.P1031P; 10:76891600-76891600	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3217A>C; p.N1073H; 10:76889521-76889521	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3093G>A; p.P1031P; 10:76891600-76891600	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2728G>A; p.G910R; 10:76944773-76944773	skin; hand	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3418T>C; p.S1140P; 10:76887385-76887385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1499C>T; p.A500V; 10:77084661-77084661	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3287G>T; p.R1096M; 10:76889451-76889451	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2899G>C; p.E967Q; 10:76910040-76910040	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1299G>A; p.R433R; 10:77090435-77090435	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1299G>A; p.R433R; 10:77090435-77090435	skin	malignant_melanoma	Substitution - coding silent
c.287T>C; p.V96A; 10:77637356-77637356	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2791C>T; p.R931C; 10:76914987-76914987	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1372C>T; p.R458*; 10:77086556-77086556	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2791C>T; p.R931C; 10:76914987-76914987	pancreas	carcinoma	Substitution - Missense
c.1372C>T; p.R458*; 10:77086556-77086556	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2551C>T; p.R851W; 10:76944950-76944950	pancreas	carcinoma	Substitution - Missense
c.2370C>T; p.G790G; 10:76949307-76949307	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2551C>T; p.R851W; 10:76944950-76944950	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1085C>A; p.T362N; 10:77110219-77110219	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1841C>T; p.S614F; 10:77039546-77039546	skin	malignant_melanoma	Substitution - Missense
c.1272C>T; p.F424F; 10:77090462-77090462	skin	malignant_melanoma	Substitution - coding silent
c.3144C>T; p.L1048L; 10:76891549-76891549	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.638T>C; p.F213S; 10:77184881-77184881	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3009G>C; p.R1003R; 10:76891684-76891684	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.638T>C; p.F213S; 10:77184881-77184881	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3498C>A; p.S1166S; 10:76887305-76887305	skin	malignant_melanoma	Substitution - coding silent
c.1340C>A; p.S447Y; 10:77086588-77086588	skin	malignant_melanoma	Substitution - Missense
c.482C>T; p.S161F; 10:77403920-77403920	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.482C>T; p.S161F; 10:77403920-77403920	skin	malignant_melanoma	Substitution - Missense
c.212T>C; p.I71T; 10:77637431-77637431	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2501C>T; p.T834M; 10:76949176-76949176	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2501C>T; p.T834M; 10:76949176-76949176	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2501C>T; p.T834M; 10:76949176-76949176	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.543T>A; p.V181V; 10:77251254-77251254	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3158C>T; p.A1053V; 10:76891535-76891535	breast	carcinoma	Substitution - Missense
c.2501C>T; p.T834M; 10:76949176-76949176	prostate	carcinoma	Substitution - Missense
c.3008G>A; p.R1003Q; 10:76891685-76891685	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1303G>A; p.D435N; 10:77090431-77090431	skin	malignant_melanoma	Substitution - Missense
c.3008G>A; p.R1003Q; 10:76891685-76891685	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1706C>A; p.S569Y; 10:77073140-77073140	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1767G>T; p.W589C; 10:77039620-77039620	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1767G>T; p.W589C; 10:77039620-77039620	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.634G>T; p.D212Y; 10:77184885-77184885	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2301A>T; p.K767N; 10:76953810-76953810	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1585C>G; p.H529D; 10:77079489-77079489	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1468C>T; p.L490F; 10:77084692-77084692	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2355G>A; p.V785V; 10:76949322-76949322	skin	malignant_melanoma	Substitution - coding silent
c.2109G>A; p.P703P; 10:76970051-76970051	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2336T>C; p.V779A; 10:76949341-76949341	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.770C>T; p.P257L; 10:77183459-77183459	skin	malignant_melanoma	Substitution - Missense
c.1626G>A; p.W542*; 10:77073220-77073220	skin; extremity	malignant_melanoma	Substitution - Nonsense
c.1084A>C; p.T362P; 10:77110220-77110220	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2658C>G; p.I886M; 10:76944843-76944843	breast	carcinoma	Substitution - Missense
c.3404C>T; p.S1135F; 10:76887399-76887399	skin	malignant_melanoma	Substitution - Missense
c.1811A>C; p.E604A; 10:77039576-77039576	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1155T>A; p.P385P; 10:77108549-77108549	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2026_2027insT; p.Y676fs*7; 10:77012032-77012033	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3404C>T; p.S1135F; 10:76887399-76887399	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3324C>T; p.L1108L; 10:76887479-76887479	NS	malignant_melanoma	Substitution - coding silent
c.3324C>T; p.L1108L; 10:76887479-76887479	NS	malignant_melanoma	Substitution - coding silent
c.2998A>G; p.T1000A; 10:76891695-76891695	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1654G>A; p.A552T; 10:77073192-77073192	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3020C>T; p.T1007I; 10:76891673-76891673	skin; hand	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2540C>T; p.T847M; 10:76944961-76944961	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2540C>T; p.T847M; 10:76944961-76944961	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1859+2T>C; p.?; 10:77039526-77039526	stomach	carcinoma; adenocarcinoma	Unknown
c.1145G>T; p.S382I; 10:77108559-77108559	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.837G>A; p.L279L; 10:77121020-77121020	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2005G>T; p.E669*; 10:77019023-77019023	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2005G>T; p.E669*; 10:77019023-77019023	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.638T>G; p.F213C; 10:77184881-77184881	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3500G>T; p.R1167L; 10:76887303-76887303	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.979C>G; p.P327A; 10:77110325-77110325	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2749G>A; p.D917N; 10:76915029-76915029	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2092+1G>A; p.?; 10:77011966-77011966	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2932A>G; p.T978A; 10:76910007-76910007	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1021G>A; p.E341K; 10:77110283-77110283	skin	malignant_melanoma	Substitution - Missense
c.2878G>A; p.D960N; 10:76910061-76910061	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2878G>A; p.D960N; 10:76910061-76910061	skin	malignant_melanoma	Substitution - Missense
c.1107G>A; p.M369I; 10:77110197-77110197	skin	malignant_melanoma	Substitution - Missense
c.2723C>T; p.S908F; 10:76944778-76944778	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2782G>T; p.G928W; 10:76914996-76914996	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2484C>G; p.L828L; 10:76949193-76949193	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2378G>A; p.S793N; 10:76949299-76949299	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2077delT; p.C693fs*35; 10:77011982-77011982	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2540C>A; p.T847K; 10:76944961-76944961	breast	carcinoma	Substitution - Missense
c.1919G>A; p.R640Q; 10:77027832-77027832	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2015+7G>A; p.?; 10:77019006-77019006	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.746T>C; p.V249A; 10:77183483-77183483	urinary_tract; bladder	carcinoma	Substitution - Missense
c.746T>C; p.V249A; 10:77183483-77183483	skin	malignant_melanoma	Substitution - Missense
c.3330G>A; p.P1110P; 10:76887473-76887473	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3330G>A; p.P1110P; 10:76887473-76887473	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.962T>G; p.V321G; 10:77110342-77110342	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1864T>C; p.C622R; 10:77027887-77027887	breast	carcinoma	Substitution - Missense
c.3330G>A; p.P1110P; 10:76887473-76887473	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.535G>T; p.V179F; 10:77403867-77403867	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.948G>T; p.G316G; 10:77112379-77112379	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1353delG; p.E451fs*31; 10:77086575-77086575	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.2913G>A; p.T971T; 10:76910026-76910026	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2913G>A; p.T971T; 10:76910026-76910026	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2913G>A; p.T971T; 10:76910026-76910026	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3522G>T; p.Q1174H; 10:76887281-76887281	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1057G>A; p.V353I; 10:77110247-77110247	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2371G>A; p.D791N; 10:76949306-76949306	skin	malignant_melanoma	Substitution - Missense
c.2371G>A; p.D791N; 10:76949306-76949306	skin; mucosal	malignant_melanoma	Substitution - Missense
c.3159G>A; p.A1053A; 10:76891534-76891534	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.675C>T; p.F225F; 10:77184844-77184844	skin	malignant_melanoma	Substitution - coding silent
c.3159G>A; p.A1053A; 10:76891534-76891534	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.966G>A; p.E322E; 10:77110338-77110338	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.460G>A; p.A154T; 10:77403942-77403942	large_intestine; colon	adenoma	Substitution - Missense
c.808+2T>A; p.?; 10:77183419-77183419	urinary_tract; bladder	carcinoma	Unknown
c.2253C>T; p.Y751Y; 10:76953858-76953858	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1518C>G; p.I506M; 10:77084642-77084642	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1195G>T; p.G399C; 10:77108509-77108509	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.808+2T>A; p.?; 10:77183419-77183419	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.3479G>A; p.R1160Q; 10:76887324-76887324	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1220G>A; p.R407K; 10:77108484-77108484	skin	malignant_melanoma	Substitution - Missense
c.2792G>A; p.R931H; 10:76914986-76914986	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2792G>A; p.R931H; 10:76914986-76914986	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1273C>T; p.L425L; 10:77090461-77090461	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2383G>A; p.A795T; 10:76949294-76949294	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1738T>C; p.S580P; 10:77073108-77073108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2172delG; p.P725fs*3; 10:76969988-76969988	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1050G>T; p.M350I; 10:77110254-77110254	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3127G>A; p.A1043T; 10:76891566-76891566	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1582T>G; p.Y528D; 10:77079492-77079492	thyroid	other; neoplasm	Substitution - Missense
c.2449A>C; p.K817Q; 10:76949228-76949228	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.712G>A; p.D238N; 10:77183517-77183517	skin	malignant_melanoma	Substitution - Missense
c.2066G>T; p.R689I; 10:77011993-77011993	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.796A>T; p.R266*; 10:77183433-77183433	breast	carcinoma	Substitution - Nonsense
c.1890G>A; p.M630I; 10:77027861-77027861	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3410C>T; p.S1137L; 10:76887393-76887393	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - Missense
c.916A>G; p.I306V; 10:77112411-77112411	skin	malignant_melanoma	Substitution - Missense
c.2406G>T; p.L802L; 10:76949271-76949271	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2414C>T; p.P805L; 10:76949263-76949263	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.203C>T; p.A68V; 10:77637440-77637440	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1096C>T; p.R366C; 10:77110208-77110208	prostate	carcinoma	Substitution - Missense
c.1075T>A; p.Y359N; 10:77110229-77110229	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2664G>A; p.A888A; 10:76944837-76944837	pancreas	NS	Substitution - coding silent
c.2391C>G; p.I797M; 10:76949286-76949286	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1141G>A; p.A381T; 10:77108563-77108563	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.226G>C; p.E76Q; 10:77637417-77637417	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.460G>T; p.A154S; 10:77403942-77403942	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3112G>A; p.D1038N; 10:76891581-76891581	skin	malignant_melanoma	Substitution - Missense
c.2502G>A; p.T834T; 10:76949175-76949175	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2774C>G; p.P925R; 10:76915004-76915004	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1614G>A; p.P538P; 10:77073232-77073232	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1614G>A; p.P538P; 10:77073232-77073232	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3450C>T; p.S1150S; 10:76887353-76887353	skin	malignant_melanoma	Substitution - coding silent
c.1240G>A; p.G414R; 10:77090494-77090494	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1240G>A; p.G414R; 10:77090494-77090494	pancreas	carcinoma	Substitution - Missense
c.2596G>A; p.V866I; 10:76944905-76944905	liver	carcinoma	Substitution - Missense
c.1055C>T; p.T352I; 10:77110249-77110249	skin	malignant_melanoma	Substitution - Missense
c.1055C>T; p.T352I; 10:77110249-77110249	skin	malignant_melanoma	Substitution - Missense
c.856T>G; p.L286V; 10:77121001-77121001	liver	carcinoma	Substitution - Missense
c.2535+1G>T; p.?; 10:76949141-76949141	liver	carcinoma	Unknown
c.2535+1G>T; p.?; 10:76949141-76949141	liver	carcinoma	Unknown
c.1846C>T; p.P616S; 10:77039541-77039541	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2132delA; p.K711fs*17; 10:76970028-76970028	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2132delA; p.K711fs*17; 10:76970028-76970028	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2132delA; p.K711fs*17; 10:76970028-76970028	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2132delA; p.K711fs*17; 10:76970028-76970028	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2132delA; p.K711fs*17; 10:76970028-76970028	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2132delA; p.K711fs*17; 10:76970028-76970028	NS	malignant_melanoma	Deletion - Frameshift
c.2132delA; p.K711fs*17; 10:76970028-76970028	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2132delA; p.K711fs*17; 10:76970028-76970028	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2132delA; p.K711fs*17; 10:76970028-76970028	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2132delA; p.K711fs*17; 10:76970028-76970028	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2132delA; p.K711fs*17; 10:76970028-76970028	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.2132delA; p.K711fs*17; 10:76970028-76970028	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2228A>G; p.N743S; 10:76953883-76953883	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2942C>T; p.A981V; 10:76909997-76909997	central_nervous_system; brain	glioma	Substitution - Missense
c.2132delA; p.K711fs*17; 10:76970028-76970028	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.31A>G; p.S11G; 10:77637612-77637612	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3145G>A; p.D1049N; 10:76891548-76891548	skin	malignant_melanoma	Substitution - Missense
c.2207C>A; p.P736H; 10:76953904-76953904	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1768C>T; p.Q590*; 10:77039619-77039619	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3394T>C; p.S1132P; 10:76887409-76887409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1104C>T; p.F368F; 10:77110200-77110200	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1104C>T; p.F368F; 10:77110200-77110200	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.3036G>A; p.P1012P; 10:76891657-76891657	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3488C>T; p.S1163F; 10:76887315-76887315	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3047C>T; p.A1016V; 10:76891646-76891646	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3396C>T; p.S1132S; 10:76887407-76887407	skin	malignant_melanoma	Substitution - coding silent
c.3396C>T; p.S1132S; 10:76887407-76887407	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3396C>T; p.S1132S; 10:76887407-76887407	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.158C>T; p.S53F; 10:77637485-77637485	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2337C>A; p.V779V; 10:76949340-76949340	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2661G>T; p.L887F; 10:76944840-76944840	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.855T>G; p.I285M; 10:77121002-77121002	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.687C>T; p.F229F; 10:77184832-77184832	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2823C>T; p.I941I; 10:76914955-76914955	breast	carcinoma	Substitution - coding silent
c.687C>T; p.F229F; 10:77184832-77184832	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2125A>C; p.K709Q; 10:76970035-76970035	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.1918C>T; p.R640*; 10:77027833-77027833	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2138G>A; p.R713Q; 10:76970022-76970022	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1014C>T; p.T338T; 10:77110290-77110290	skin	malignant_melanoma	Substitution - coding silent
c.2832C>T; p.I944I; 10:76914946-76914946	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.424C>G; p.L142V; 10:77403978-77403978	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1806C>T; p.Y602Y; 10:77039581-77039581	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3233G>A; p.G1078E; 10:76889505-76889505	skin	malignant_melanoma	Substitution - Missense
c.768C>T; p.P256P; 10:77183461-77183461	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3274C>A; p.Q1092K; 10:76889464-76889464	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.761C>T; p.T254M; 10:77183468-77183468	liver	carcinoma	Substitution - Missense
c.761C>T; p.T254M; 10:77183468-77183468	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.761C>T; p.T254M; 10:77183468-77183468	liver	carcinoma	Substitution - Missense
c.1127G>A; p.G376E; 10:77110177-77110177	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.793A>C; p.N265H; 10:77183436-77183436	breast	carcinoma	Substitution - Missense
c.2026delT; p.Y676fs*15; 10:77012033-77012033	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2923G>T; p.A975S; 10:76910016-76910016	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1057G>T; p.V353F; 10:77110247-77110247	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2026delT; p.Y676fs*15; 10:77012033-77012033	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.614C>T; p.S205F; 10:77184905-77184905	skin	malignant_melanoma	Substitution - Missense
c.561C>T; p.L187L; 10:77251236-77251236	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1539G>T; p.K513N; 10:77079535-77079535	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.561C>T; p.L187L; 10:77251236-77251236	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.561C>T; p.L187L; 10:77251236-77251236	urinary_tract; bladder	carcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation