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	8852
Symbol	AKAP4
Synonymous	AKAP 82\|AKAP-4\|AKAP82\|CT99\|FSC1\|HI\|PRKA4\|hAKAP82\|p82
Full name	A kinase (PRKA) anchor protein 4
Gene description	A-kinase anchor protein 4\|A-kinase anchor protein 82 kDa\|cancer/testis antigen 99\|major sperm fibrous sheath protein\|protein kinase A anchoring protein 4\|protein kinase A-anchoring protein 4\|testis-specific gene HI
Cytoband	Xp11.2
Gene type	protein-coding
Synonymous	MIM:300185; HGNC:HGNC:374; Ensembl:ENSG00000147081; HPRD:02173; Vega:OTTHUMG00000021517

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.445A>C; p.R149R; 23:50194268-50194268	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1357G>T; p.A453S; 23:50193356-50193356	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.999C>T; p.L333L; 23:50193714-50193714	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.999C>T; p.L333L; 23:50193714-50193714	breast	carcinoma	Substitution - coding silent
c.2526C>A; p.A842A; 23:50190999-50190999	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1477G>C; p.A493P; 23:50193236-50193236	liver	carcinoma	Substitution - Missense
c.858G>A; p.M286I; 23:50193855-50193855	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.872A>C; p.E291A; 23:50193841-50193841	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1477G>C; p.A493P; 23:50193236-50193236	liver	carcinoma	Substitution - Missense
c.1947C>T; p.C649C; 23:50192766-50192766	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1947C>T; p.C649C; 23:50192766-50192766	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1578A>T; p.K526N; 23:50193135-50193135	bone	osteosarcoma	Substitution - Missense
c.702G>A; p.K234K; 23:50194011-50194011	skin	malignant_melanoma	Substitution - coding silent
c.1733T>G; p.M578R; 23:50192980-50192980	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1038C>A; p.V346V; 23:50193675-50193675	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.572C>T; p.P191L; 23:50194141-50194141	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1983C>A; p.S661R; 23:50192730-50192730	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1157G>A; p.C386Y; 23:50193556-50193556	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1283A>G; p.K428R; 23:50193430-50193430	central_nervous_system; brain	glioma	Substitution - Missense
c.1653G>T; p.L551L; 23:50193060-50193060	pancreas	carcinoid-endocrine_tumour	Substitution - coding silent
c.1370A>T; p.D457V; 23:50193343-50193343	breast	carcinoma	Substitution - Missense
c.2524G>T; p.A842S; 23:50191001-50191001	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1285C>T; p.R429C; 23:50193428-50193428	breast	carcinoma	Substitution - Missense
c.1305A>T; p.I435I; 23:50193408-50193408	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.606G>A; p.Q202Q; 23:50194107-50194107	skin	malignant_melanoma	Substitution - coding silent
c.1860C>G; p.D620E; 23:50192853-50192853	central_nervous_system; brain	glioma	Substitution - Missense
c.527G>A; p.R176H; 23:50194186-50194186	central_nervous_system; brain	glioma	Substitution - Missense
c.527G>A; p.R176H; 23:50194186-50194186	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.912C>T; p.S304S; 23:50193801-50193801	pancreas	carcinoma	Substitution - coding silent
c.258G>T; p.E86D; 23:50196909-50196909	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.615C>T; p.V205V; 23:50194098-50194098	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1913T>G; p.L638R; 23:50192800-50192800	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2458G>T; p.G820C; 23:50191067-50191067	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.305A>G; p.Q102R; 23:50194408-50194408	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.696C>T; p.A232A; 23:50194017-50194017	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1579G>T; p.D527Y; 23:50193134-50193134	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1770C>T; p.G590G; 23:50192943-50192943	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2383G>T; p.G795*; 23:50192330-50192330	pancreas	carcinoma; acinar_carcinoma	Substitution - Nonsense
c.1662C>A; p.Y554*; 23:50193051-50193051	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1040C>T; p.S347F; 23:50193673-50193673	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2553C>T; p.L851L; 23:50190972-50190972	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1432G>A; p.D478N; 23:50193281-50193281	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.121G>A; p.V41M; 23:50198659-50198659	skin	malignant_melanoma	Substitution - Missense
c.2063G>A; p.G688E; 23:50192650-50192650	skin	malignant_melanoma	Substitution - Missense
c.2420T>C; p.V807A; 23:50191105-50191105	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.800C>T; p.A267V; 23:50193913-50193913	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2558A>G; p.N853S; 23:50190967-50190967	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1818C>T; p.A606A; 23:50192895-50192895	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2081G>A; p.G694E; 23:50192632-50192632	skin	malignant_melanoma	Substitution - Missense
c.2152G>T; p.G718W; 23:50192561-50192561	breast	carcinoma	Substitution - Missense
c.1671C>A; p.T557T; 23:50193042-50193042	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.970G>T; p.E324*; 23:50193743-50193743	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2564G>T; p.*855L; 23:50190961-50190961	skin	malignant_melanoma	Nonstop extension
c.1596G>A; p.K532K; 23:50193117-50193117	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1596G>A; p.K532K; 23:50193117-50193117	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2137A>T; p.K713*; 23:50192576-50192576	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.955C>A; p.Q319K; 23:50193758-50193758	kidney	other; neoplasm	Substitution - Missense
c.955C>A; p.Q319K; 23:50193758-50193758	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2164G>T; p.A722S; 23:50192549-50192549	oesophagus	carcinoma	Substitution - Missense
c.2161delC; p.A722fs*38; 23:50192552-50192552	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.859C>T; p.R287C; 23:50193854-50193854	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1472C>A; p.T491N; 23:50193241-50193241	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.148C>A; p.L50M; 23:50197570-50197570	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1032G>A; p.M344I; 23:50193681-50193681	skin	malignant_melanoma	Substitution - Missense
c.1195_1196AC>CT; p.T399>L; 23:50193517-50193518	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Complex - compound substitution
c.614T>C; p.V205A; 23:50194099-50194099	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.997C>T; p.L333F; 23:50193716-50193716	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1111T>C; p.L371L; 23:50193602-50193602	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1224G>A; p.K408K; 23:50193489-50193489	skin	malignant_melanoma	Substitution - coding silent
c.2079C>T; p.N693N; 23:50192634-50192634	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.661G>A; p.V221I; 23:50194052-50194052	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1382G>A; p.R461K; 23:50193331-50193331	NS	malignant_melanoma	Substitution - Missense
c.2079C>T; p.N693N; 23:50192634-50192634	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2349C>A; p.A783A; 23:50192364-50192364	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1800A>G; p.Q600Q; 23:50192913-50192913	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2149G>A; p.D717N; 23:50192564-50192564	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.262A>G; p.K88E; 23:50196905-50196905	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.261G>T; p.K87N; 23:50196906-50196906	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.620C>T; p.S207F; 23:50194093-50194093	skin	malignant_melanoma	Substitution - Missense
c.620C>T; p.S207F; 23:50194093-50194093	NS	malignant_melanoma	Substitution - Missense
c.620C>T; p.S207F; 23:50194093-50194093	NS	malignant_melanoma	Substitution - Missense
c.1528C>A; p.Q510K; 23:50193185-50193185	central_nervous_system; brain	glioma	Substitution - Missense
c.1029C>A; p.D343E; 23:50193684-50193684	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2467C>A; p.Q823K; 23:50191058-50191058	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1403C>T; p.S468F; 23:50193310-50193310	skin	malignant_melanoma	Substitution - Missense
c.1887C>T; p.I629I; 23:50192826-50192826	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1671C>T; p.T557T; 23:50193042-50193042	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.921C>T; p.S307S; 23:50193792-50193792	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1671C>T; p.T557T; 23:50193042-50193042	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.549A>G; p.K183K; 23:50194164-50194164	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.763C>T; p.P255S; 23:50193950-50193950	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.435C>T; p.G145G; 23:50194278-50194278	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.674C>T; p.S225F; 23:50194039-50194039	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.435C>T; p.G145G; 23:50194278-50194278	breast	carcinoma	Substitution - coding silent
c.435C>T; p.G145G; 23:50194278-50194278	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.987C>T; p.I329I; 23:50193726-50193726	breast	carcinoma; HER-positive_carcinoma	Substitution - coding silent
c.1820delC; p.P607fs*25; 23:50192893-50192893	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.562A>G; p.N188D; 23:50194151-50194151	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.268C>A; p.Q90K; 23:50196899-50196899	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1317G>A; p.K439K; 23:50193396-50193396	skin	malignant_melanoma	Substitution - coding silent
c.2092G>A; p.D698N; 23:50192621-50192621	skin	malignant_melanoma	Substitution - Missense
c.1129G>A; p.E377K; 23:50193584-50193584	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1912C>T; p.L638F; 23:50192801-50192801	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1929C>T; p.F643F; 23:50192784-50192784	skin	malignant_melanoma	Substitution - coding silent
c.653C>T; p.S218F; 23:50194060-50194060	skin	malignant_melanoma	Substitution - Missense
c.653C>T; p.S218F; 23:50194060-50194060	skin	malignant_melanoma	Substitution - Missense
c.34G>A; p.D12N; 23:50198746-50198746	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1459T>C; p.C487R; 23:50193254-50193254	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1537G>A; p.G513R; 23:50193176-50193176	skin	malignant_melanoma	Substitution - Missense
c.1826C>A; p.P609Q; 23:50192887-50192887	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1336C>T; p.L446L; 23:50193377-50193377	skin	malignant_melanoma	Substitution - coding silent
c.1469T>C; p.L490P; 23:50193244-50193244	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2140T>C; p.Y714H; 23:50192573-50192573	skin	malignant_melanoma	Substitution - Missense
c.977C>T; p.A326V; 23:50193736-50193736	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.199G>T; p.G67C; 23:50196968-50196968	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1272G>T; p.E424D; 23:50193441-50193441	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.796C>G; p.P266A; 23:50193917-50193917	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1476T>A; p.S492R; 23:50193237-50193237	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1023A>T; p.A341A; 23:50193690-50193690	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.886G>T; p.G296C; 23:50193827-50193827	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2191G>A; p.A731T; 23:50192522-50192522	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1614T>A; p.D538E; 23:50193099-50193099	breast	carcinoma	Substitution - Missense
c.1783G>A; p.A595T; 23:50192930-50192930	skin	malignant_melanoma	Substitution - Missense
c.367T>G; p.L123V; 23:50194346-50194346	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2108C>T; p.S703F; 23:50192605-50192605	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1661A>G; p.Y554C; 23:50193052-50193052	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1817C>T; p.A606V; 23:50192896-50192896	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1158C>A; p.C386*; 23:50193555-50193555	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2019G>A; p.A673A; 23:50192694-50192694	breast	carcinoma	Substitution - coding silent
c.437A>T; p.E146V; 23:50194276-50194276	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.791G>A; p.R264Q; 23:50193922-50193922	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1362G>A; p.G454G; 23:50193351-50193351	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1948G>T; p.E650*; 23:50192765-50192765	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.942C>A; p.D314E; 23:50193771-50193771	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2076G>A; p.A692A; 23:50192637-50192637	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.463T>C; p.C155R; 23:50194250-50194250	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2076G>A; p.A692A; 23:50192637-50192637	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2076G>A; p.A692A; 23:50192637-50192637	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1038C>T; p.V346V; 23:50193675-50193675	skin	malignant_melanoma	Substitution - coding silent
c.1610C>T; p.T537I; 23:50193103-50193103	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1007A>G; p.Y336C; 23:50193706-50193706	stomach	adenocarcinoma	Substitution - Missense
c.1660T>C; p.Y554H; 23:50193053-50193053	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2516G>A; p.G839E; 23:50191009-50191009	skin	malignant_melanoma	Substitution - Missense
c.128G>A; p.C43Y; 23:50197590-50197590	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.390C>G; p.S130R; 23:50194323-50194323	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1918G>C; p.E640Q; 23:50192795-50192795	breast	carcinoma	Substitution - Missense
c.128G>A; p.C43Y; 23:50197590-50197590	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2275G>A; p.V759I; 23:50192438-50192438	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.663C>T; p.V221V; 23:50194050-50194050	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.135C>T; p.V45V; 23:50197583-50197583	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.730delA; p.S244fs*38; 23:50193983-50193983	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.510C>T; p.N170N; 23:50194203-50194203	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.787C>A; p.P263T; 23:50193926-50193926	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1767T>C; p.G589G; 23:50192946-50192946	central_nervous_system; brain	glioma	Substitution - coding silent
c.2354A>C; p.Q785P; 23:50192359-50192359	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2153G>T; p.G718V; 23:50192560-50192560	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1453G>T; p.D485Y; 23:50193260-50193260	breast	carcinoma	Substitution - Missense
c.343C>A; p.L115I; 23:50194370-50194370	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.703G>A; p.E235K; 23:50194010-50194010	skin	malignant_melanoma	Substitution - Missense
c.703G>A; p.E235K; 23:50194010-50194010	skin; shoulder	malignant_melanoma	Substitution - Missense
c.703G>A; p.E235K; 23:50194010-50194010	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1150G>A; p.D384N; 23:50193563-50193563	skin	malignant_melanoma	Substitution - Missense
c.703G>A; p.E235K; 23:50194010-50194010	skin	malignant_melanoma	Substitution - Missense
c.2189C>T; p.S730L; 23:50192524-50192524	skin	malignant_melanoma	Substitution - Missense
c.1753G>A; p.E585K; 23:50192960-50192960	skin; trunk	malignant_melanoma	Substitution - Missense
c.1299C>T; p.A433A; 23:50193414-50193414	skin	malignant_melanoma	Substitution - coding silent
c.2478G>A; p.M826I; 23:50191047-50191047	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.615C>A; p.V205V; 23:50194098-50194098	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.615C>A; p.V205V; 23:50194098-50194098	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.240C>T; p.I80I; 23:50196927-50196927	skin	malignant_melanoma	Substitution - coding silent
c.1465T>C; p.S489P; 23:50193248-50193248	liver	carcinoma	Substitution - Missense
c.1702G>A; p.E568K; 23:50193011-50193011	breast	carcinoma	Substitution - Missense
c.465C>T; p.C155C; 23:50194248-50194248	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1154C>A; p.S385Y; 23:50193559-50193559	breast	carcinoma	Substitution - Missense
c.995G>A; p.G332E; 23:50193718-50193718	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2467C>T; p.Q823*; 23:50191058-50191058	NS	malignant_melanoma	Substitution - Nonsense
c.666C>A; p.N222K; 23:50194047-50194047	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2467C>T; p.Q823*; 23:50191058-50191058	NS	malignant_melanoma	Substitution - Nonsense
c.544G>T; p.A182S; 23:50194169-50194169	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.627T>G; p.D209E; 23:50194086-50194086	skin	malignant_melanoma	Substitution - Missense
c.1722C>T; p.T574T; 23:50192991-50192991	skin	malignant_melanoma	Substitution - coding silent
c.659A>G; p.Y220C; 23:50194054-50194054	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Missense
c.1731T>C; p.Y577Y; 23:50192982-50192982	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1516A>G; p.T506A; 23:50193197-50193197	skin	malignant_melanoma	Substitution - Missense
c.595C>T; p.P199S; 23:50194118-50194118	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2476A>G; p.M826V; 23:50191049-50191049	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2066T>A; p.M689K; 23:50192647-50192647	breast	carcinoma	Substitution - Missense
c.1216G>A; p.A406T; 23:50193497-50193497	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2119C>T; p.L707F; 23:50192594-50192594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1923C>T; p.N641N; 23:50192790-50192790	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2119C>T; p.L707F; 23:50192594-50192594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1293C>A; p.V431V; 23:50193420-50193420	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1021G>A; p.A341T; 23:50193692-50193692	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1863C>T; p.S621S; 23:50192850-50192850	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1670C>T; p.T557I; 23:50193043-50193043	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1140C>T; p.S380S; 23:50193573-50193573	central_nervous_system; brain	glioma	Substitution - coding silent
c.1140C>T; p.S380S; 23:50193573-50193573	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.311C>T; p.P104L; 23:50194402-50194402	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1140C>T; p.S380S; 23:50193573-50193573	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1140C>T; p.S380S; 23:50193573-50193573	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2236G>A; p.A746T; 23:50192477-50192477	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.2090T>G; p.I697R; 23:50192623-50192623	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1194G>T; p.M398I; 23:50193519-50193519	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.883G>A; p.E295K; 23:50193830-50193830	NS	malignant_melanoma	Substitution - Missense
c.2198A>G; p.K733R; 23:50192515-50192515	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1488C>T; p.V496V; 23:50193225-50193225	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.170A>T; p.Y57F; 23:50197548-50197548	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.442C>A; p.H148N; 23:50194271-50194271	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1303A>T; p.I435L; 23:50193410-50193410	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1042C>A; p.L348I; 23:50193671-50193671	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1082T>C; p.I361T; 23:50193631-50193631	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1119G>A; p.R373R; 23:50193594-50193594	breast	carcinoma	Substitution - coding silent
c.1082T>C; p.I361T; 23:50193631-50193631	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1245G>A; p.W415*; 23:50193468-50193468	skin	malignant_melanoma	Substitution - Nonsense
c.904C>A; p.L302I; 23:50193809-50193809	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.87C>T; p.Y29Y; 23:50198693-50198693	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.621C>T; p.S207S; 23:50194092-50194092	skin	malignant_melanoma	Substitution - coding silent
c.1516delA; p.T506fs*39; 23:50193197-50193197	thyroid	carcinoma; anaplastic_carcinoma	Deletion - Frameshift
c.1349C>A; p.S450Y; 23:50193364-50193364	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2172G>T; p.L724F; 23:50192541-50192541	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1328C>A; p.S443Y; 23:50193385-50193385	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2411T>G; p.L804R; 23:50191114-50191114	oesophagus	carcinoma	Substitution - Missense
c.606G>C; p.Q202H; 23:50194107-50194107	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1153T>G; p.S385A; 23:50193560-50193560	endometrium	carcinoma; serous_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation