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	5783
Symbol	PTPN13
Synonymous	FAP-1\|PNP1\|PTP-BAS\|PTP-BL\|PTP1E\|PTPL1\|PTPLE\|hPTP1E
Full name	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)
Gene description	fas-associated protein-tyrosine phosphatase 1\|hPTPE1\|protein-tyrosine phosphatase 1E\|protein-tyrosine phosphatase PTPL1\|tyrosine-protein phosphatase non-receptor type 13
Cytoband	4q21.3
Gene type	protein-coding
Synonymous	MIM:600267; HGNC:HGNC:9646; Ensembl:ENSG00000163629; HPRD:02602; Vega:OTTHUMG00000160968

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.5710G>T; p.G1904*; 4:86775456-86775456	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2934C>T; p.L978L; 4:86750753-86750753	skin	malignant_melanoma	Substitution - coding silent
c.4789G>A; p.V1597M; 4:86770170-86770170	prostate	carcinoma	Substitution - Missense
c.3600G>T; p.M1200I; 4:86762773-86762773	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6652C>A; p.P2218T; 4:86803840-86803840	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2660C>T; p.S887L; 4:86750479-86750479	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2660C>T; p.S887L; 4:86750479-86750479	skin	malignant_melanoma	Substitution - Missense
c.7337G>T; p.R2446L; 4:86811068-86811068	prostate	carcinoma	Substitution - Missense
c.2660C>T; p.S887L; 4:86750479-86750479	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2660C>T; p.S887L; 4:86750479-86750479	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.671A>G; p.K224R; 4:86701277-86701277	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7342A>G; p.M2448V; 4:86811073-86811073	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2870C>G; p.A957G; 4:86750689-86750689	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4583C>T; p.P1528L; 4:86769847-86769847	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7265C>A; p.T2422N; 4:86809935-86809935	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5266G>C; p.D1756H; 4:86772860-86772860	breast	carcinoma	Substitution - Missense
c.677C>T; p.P226L; 4:86701283-86701283	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1191_1193delAGA; p.E399delE; 4:86701797-86701799	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.4086G>A; p.K1362K; 4:86764661-86764661	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1454A>G; p.E485G; 4:86722280-86722280	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.848delA; p.K285fs*45; 4:86701454-86701454	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.848delA; p.K285fs*45; 4:86701454-86701454	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.6935T>C; p.M2312T; 4:86807734-86807734	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4564C>T; p.R1522*; 4:86769828-86769828	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3664C>T; p.R1222C; 4:86762837-86762837	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3971A>T; p.D1324V; 4:86763144-86763144	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4564C>T; p.R1522*; 4:86769828-86769828	skin; ankle	malignant_melanoma	Substitution - Nonsense
c.3493C>T; p.Q1165*; 4:86759013-86759013	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Nonsense
c.3243G>A; p.W1081*; 4:86758279-86758279	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1555G>A; p.D519N; 4:86722381-86722381	breast	carcinoma	Substitution - Missense
c.1081_1082CC>TT; p.P361L; 4:86701687-86701688	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3493C>T; p.Q1165*; 4:86759013-86759013	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Nonsense
c.6652C>T; p.P2218S; 4:86803840-86803840	skin	malignant_melanoma	Substitution - Missense
c.6335C>A; p.S2112*; 4:86785911-86785911	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2019T>C; p.T673T; 4:86734743-86734743	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1399A>C; p.T467P; 4:86722225-86722225	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5741A>T; p.Y1914F; 4:86775487-86775487	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1123T>G; p.S375A; 4:86701729-86701729	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3756G>A; p.E1252E; 4:86762929-86762929	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2059A>G; p.I687V; 4:86734783-86734783	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1563A>G; p.L521L; 4:86722389-86722389	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2601C>T; p.F867F; 4:86745079-86745079	large_intestine; colon	adenoma	Substitution - coding silent
c.6436G>T; p.E2146*; 4:86799120-86799120	breast	carcinoma	Substitution - Nonsense
c.7417C>A; p.L2473M; 4:86814495-86814495	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.509A>G; p.K170R; 4:86689153-86689153	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.68C>T; p.A23V; 4:86635324-86635324	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3262G>C; p.E1088Q; 4:86758298-86758298	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3274A>G; p.T1092A; 4:86758310-86758310	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6990C>T; p.N2330N; 4:86807789-86807789	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.725G>A; p.G242E; 4:86701331-86701331	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1684-1G>A; p.?; 4:86732591-86732591	lung	carcinoma; adenocarcinoma	Unknown
c.7014C>G; p.V2338V; 4:86807813-86807813	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4164+8A>G; p.?; 4:86764747-86764747	liver	carcinoma	Unknown
c.4164+8A>G; p.?; 4:86764747-86764747	liver	carcinoma	Unknown
c.764T>G; p.F255C; 4:86701370-86701370	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6059A>G; p.N2020S; 4:86784484-86784484	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6350A>G; p.Y2117C; 4:86785926-86785926	liver	carcinoma	Substitution - Missense
c.4704A>T; p.K1568N; 4:86769968-86769968	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.799G>T; p.D267Y; 4:86701405-86701405	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.6631G>A; p.G2211S; 4:86803819-86803819	skin	malignant_melanoma	Substitution - Missense
c.5660C>T; p.P1887L; 4:86775307-86775307	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.6894delC; p.W2299fs*3; 4:86807693-86807693	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2484T>A; p.F828L; 4:86741813-86741813	skin	malignant_melanoma	Substitution - Missense
c.1712G>A; p.R571Q; 4:86732620-86732620	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6754C>A; p.L2252I; 4:86805363-86805363	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.831C>G; p.F277L; 4:86701437-86701437	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1139G>A; p.R380Q; 4:86701745-86701745	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6477T>C; p.D2159D; 4:86799161-86799161	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3718C>T; p.R1240W; 4:86762891-86762891	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6437A>G; p.E2146G; 4:86799121-86799121	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7318G>A; p.D2440N; 4:86811049-86811049	NS	NS	Substitution - Missense
c.4265G>A; p.R1422H; 4:86766438-86766438	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3354C>T; p.D1118D; 4:86758718-86758718	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6846C>T; p.F2282F; 4:86807645-86807645	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5409C>T; p.S1803S; 4:86774417-86774417	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6846C>T; p.F2282F; 4:86807645-86807645	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6846C>T; p.F2282F; 4:86807645-86807645	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2644G>T; p.D882Y; 4:86745122-86745122	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6846C>T; p.F2282F; 4:86807645-86807645	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1249G>T; p.E417*; 4:86716583-86716583	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1858+2T>C; p.?; 4:86732768-86732768	urinary_tract; bladder	carcinoma	Unknown
c.4625T>G; p.F1542C; 4:86769889-86769889	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4768C>A; p.L1590I; 4:86770149-86770149	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5221C>T; p.Q1741*; 4:86772815-86772815	liver	carcinoma	Substitution - Nonsense
c.3815A>C; p.Q1272P; 4:86762988-86762988	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3754G>C; p.E1252Q; 4:86762927-86762927	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3001G>T; p.G1001*; 4:86750820-86750820	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.6540C>T; p.N2180N; 4:86803728-86803728	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1352A>G; p.E451G; 4:86717084-86717084	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3380C>T; p.A1127V; 4:86758744-86758744	skin	malignant_melanoma	Substitution - Missense
c.3084G>A; p.A1028A; 4:86751042-86751042	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3727A>C; p.S1243R; 4:86762900-86762900	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5216C>A; p.P1739H; 4:86772810-86772810	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6423T>G; p.I2141M; 4:86799107-86799107	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3588G>A; p.M1196I; 4:86762761-86762761	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6C>G; p.H2Q; 4:86635262-86635262	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6C>G; p.H2Q; 4:86635262-86635262	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6C>G; p.H2Q; 4:86635262-86635262	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2751C>T; p.L917L; 4:86750570-86750570	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.353A>G; p.Q118R; 4:86686768-86686768	breast	carcinoma	Substitution - Missense
c.5410C>T; p.L1804L; 4:86774418-86774418	liver	carcinoma	Substitution - coding silent
c.5410C>T; p.L1804L; 4:86774418-86774418	liver	carcinoma	Substitution - coding silent
c.4615delA; p.K1540fs*16; 4:86769879-86769879	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2050C>T; p.R684*; 4:86734774-86734774	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2050C>T; p.R684*; 4:86734774-86734774	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3206T>C; p.V1069A; 4:86753048-86753048	liver	carcinoma	Substitution - Missense
c.7105G>C; p.E2369Q; 4:86809775-86809775	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4565G>A; p.R1522Q; 4:86769829-86769829	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3099T>C; p.S1033S; 4:86751057-86751057	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1740C>T; p.N580N; 4:86732648-86732648	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6128C>T; p.P2043L; 4:86784553-86784553	skin	malignant_melanoma	Substitution - Missense
c.3501A>G; p.A1167A; 4:86759021-86759021	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.939C>T; p.F313F; 4:86701545-86701545	skin	malignant_melanoma	Substitution - coding silent
c.3099T>C; p.S1033S; 4:86751057-86751057	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.7146A>C; p.P2382P; 4:86809816-86809816	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - coding silent
c.6238G>A; p.E2080K; 4:86785335-86785335	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.439C>T; p.R147W; 4:86689083-86689083	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5378T>A; p.L1793H; 4:86774386-86774386	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4220C>T; p.P1407L; 4:86765450-86765450	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6991A>G; p.I2331V; 4:86807790-86807790	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6363C>T; p.A2121A; 4:86796876-86796876	kidney	other; neoplasm	Substitution - coding silent
c.4546C>T; p.L1516L; 4:86769810-86769810	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4138A>T; p.I1380L; 4:86764713-86764713	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6093T>G; p.T2031T; 4:86784518-86784518	skin	malignant_melanoma	Substitution - coding silent
c.1793T>C; p.F598S; 4:86732701-86732701	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7191C>G; p.I2397M; 4:86809861-86809861	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6798C>T; p.G2266G; 4:86807597-86807597	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4567G>A; p.E1523K; 4:86769831-86769831	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.510A>C; p.K170N; 4:86689154-86689154	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5614C>T; p.R1872*; 4:86775261-86775261	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4692A>G; p.G1564G; 4:86769956-86769956	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.6628C>T; p.R2210W; 4:86803816-86803816	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7011G>A; p.M2337I; 4:86807810-86807810	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.6701G>T; p.C2234F; 4:86805310-86805310	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.7264A>G; p.T2422A; 4:86809934-86809934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2103G>C; p.L701F; 4:86734827-86734827	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7128G>A; p.L2376L; 4:86809798-86809798	skin	malignant_melanoma	Substitution - coding silent
c.6682T>C; p.L2228L; 4:86805291-86805291	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4560T>A; p.F1520L; 4:86769824-86769824	skin	malignant_melanoma	Substitution - Missense
c.3525C>T; p.I1175I; 4:86759045-86759045	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2018C>T; p.T673I; 4:86734742-86734742	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.7027C>T; p.R2343*; 4:86807826-86807826	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.7027C>T; p.R2343*; 4:86807826-86807826	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7027C>T; p.R2343*; 4:86807826-86807826	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.7027C>T; p.R2343*; 4:86807826-86807826	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2769A>C; p.R923R; 4:86750588-86750588	liver	carcinoma	Substitution - coding silent
c.1533G>T; p.A511A; 4:86722359-86722359	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2934C>G; p.L978L; 4:86750753-86750753	breast	carcinoma	Substitution - coding silent
c.1031A>G; p.Y344C; 4:86701637-86701637	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7355G>T; p.R2452I; 4:86811086-86811086	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7404C>T; p.V2468V; 4:86814482-86814482	skin	malignant_melanoma	Substitution - coding silent
c.2086G>T; p.D696Y; 4:86734810-86734810	pancreas	carcinoma	Substitution - Missense
c.5206G>T; p.D1736Y; 4:86772800-86772800	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5945C>T; p.A1982V; 4:86780440-86780440	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6412G>A; p.E2138K; 4:86796925-86796925	skin	malignant_melanoma	Substitution - Missense
c.5330A>C; p.N1777T; 4:86772924-86772924	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.6648A>C; p.G2216G; 4:86803836-86803836	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6508G>A; p.D2170N; 4:86799192-86799192	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1376A>C; p.Q459P; 4:86717108-86717108	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3734G>A; p.S1245N; 4:86762907-86762907	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2878G>T; p.E960*; 4:86750697-86750697	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Nonsense
c.1944C>G; p.T648T; 4:86734388-86734388	NS	NS	Substitution - coding silent
c.1627T>C; p.F543L; 4:86732418-86732418	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.434C>T; p.S145F; 4:86689078-86689078	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.805G>C; p.E269Q; 4:86701411-86701411	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6699G>T; p.Q2233H; 4:86805308-86805308	breast	carcinoma	Substitution - Missense
c.7333G>T; p.V2445L; 4:86811064-86811064	kidney	other; neoplasm	Substitution - Missense
c.5633G>A; p.R1878K; 4:86775280-86775280	breast	carcinoma	Substitution - Missense
c.1541T>G; p.L514R; 4:86722367-86722367	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.5533A>G; p.T1845A; 4:86775180-86775180	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.613C>T; p.R205*; 4:86693653-86693653	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.613C>T; p.R205*; 4:86693653-86693653	skin; extremity	malignant_melanoma	Substitution - Nonsense
c.1541T>G; p.L514R; 4:86722367-86722367	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.3504T>C; p.P1168P; 4:86759024-86759024	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.7118T>C; p.I2373T; 4:86809788-86809788	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.7118T>C; p.I2373T; 4:86809788-86809788	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6134-2A>T; p.?; 4:86785229-86785229	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.3214A>C; p.K1072Q; 4:86753056-86753056	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6629G>A; p.R2210Q; 4:86803817-86803817	skin	malignant_melanoma	Substitution - Missense
c.3771T>A; p.S1257S; 4:86762944-86762944	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2635G>C; p.D879H; 4:86745113-86745113	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4266C>T; p.R1422R; 4:86766439-86766439	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6068C>T; p.S2023L; 4:86784493-86784493	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.765C>G; p.F255L; 4:86701371-86701371	urinary_tract; bladder	carcinoma	Substitution - Missense
c.751G>A; p.D251N; 4:86701357-86701357	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7265C>T; p.T2422I; 4:86809935-86809935	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1590G>C; p.M530I; 4:86722416-86722416	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5925C>T; p.V1975V; 4:86780420-86780420	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6603C>T; p.N2201N; 4:86803791-86803791	liver	carcinoma	Substitution - coding silent
c.6603C>T; p.N2201N; 4:86803791-86803791	liver	carcinoma	Substitution - coding silent
c.2854G>T; p.E952*; 4:86750673-86750673	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2854G>T; p.E952*; 4:86750673-86750673	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3599T>C; p.M1200T; 4:86762772-86762772	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2854G>T; p.E952*; 4:86750673-86750673	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7266C>T; p.T2422T; 4:86809936-86809936	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.847_848insA; p.P286fs*6; 4:86701453-86701454	liver	carcinoma	Insertion - Frameshift
c.631A>G; p.T211A; 4:86693671-86693671	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4197C>T; p.G1399G; 4:86765427-86765427	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3778C>T; p.Q1260*; 4:86762951-86762951	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3524T>C; p.I1175T; 4:86759044-86759044	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3524T>C; p.I1175T; 4:86759044-86759044	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3524T>C; p.I1175T; 4:86759044-86759044	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2664T>C; p.F888F; 4:86750483-86750483	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.860T>A; p.I287N; 4:86701466-86701466	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.866G>A; p.G289D; 4:86701472-86701472	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.607C>T; p.R203*; 4:86693647-86693647	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4574A>G; p.N1525S; 4:86769838-86769838	skin; knee	malignant_melanoma	Substitution - Missense
c.789T>G; p.S263S; 4:86701395-86701395	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4739G>T; p.R1580M; 4:86770120-86770120	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2487+2T>C; p.?; 4:86741818-86741818	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.3822_3841del20; p.Q1275fs*17; 4:86762995-86763014	skin	malignant_melanoma	Deletion - Frameshift
c.6758C>T; p.P2253L; 4:86805367-86805367	skin	malignant_melanoma	Substitution - Missense
c.820C>A; p.P274T; 4:86701426-86701426	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7309C>A; p.L2437I; 4:86809979-86809979	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2770C>T; p.P924S; 4:86750589-86750589	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6931G>A; p.A2311T; 4:86807730-86807730	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6520G>A; p.D2174N; 4:86799204-86799204	skin; extremity	malignant_melanoma	Substitution - Missense
c.4325_4326insA; p.L1443fs*21; 4:86766498-86766499	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.872A>G; p.D291G; 4:86701478-86701478	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6595G>A; p.G2199S; 4:86803783-86803783	skin	malignant_melanoma	Substitution - Missense
c.7408C>T; p.L2470F; 4:86814486-86814486	skin	malignant_melanoma	Substitution - Missense
c.1130C>A; p.A377D; 4:86701736-86701736	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1130C>A; p.A377D; 4:86701736-86701736	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5192C>T; p.S1731F; 4:86772786-86772786	skin	malignant_melanoma	Substitution - Missense
c.5339A>G; p.E1780G; 4:86772933-86772933	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1130C>A; p.A377D; 4:86701736-86701736	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5097T>C; p.H1699H; 4:86771449-86771449	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7462C>A; p.L2488I; 4:86814540-86814540	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2919C>T; p.L973L; 4:86750738-86750738	skin	malignant_melanoma	Substitution - coding silent
c.793C>T; p.R265C; 4:86701399-86701399	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.793C>T; p.R265C; 4:86701399-86701399	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1985T>G; p.F662C; 4:86734429-86734429	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1985T>G; p.F662C; 4:86734429-86734429	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5344C>T; p.H1782Y; 4:86772938-86772938	skin	malignant_melanoma	Substitution - Missense
c.2919C>T; p.L973L; 4:86750738-86750738	skin	malignant_melanoma	Substitution - coding silent
c.4661A>G; p.D1554G; 4:86769925-86769925	breast	carcinoma	Substitution - Missense
c.121C>T; p.L41L; 4:86672370-86672370	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7437A>G; p.E2479E; 4:86814515-86814515	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4454delA; p.V1487fs*1; 4:86767926-86767926	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3955G>T; p.G1319*; 4:86763128-86763128	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4258G>T; p.G1420C; 4:86765488-86765488	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2313A>C; p.Q771H; 4:86741642-86741642	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1145G>A; p.R382Q; 4:86701751-86701751	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1145G>A; p.R382Q; 4:86701751-86701751	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1579G>C; p.E527Q; 4:86722405-86722405	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3905G>T; p.S1302I; 4:86763078-86763078	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.4580T>C; p.I1527T; 4:86769844-86769844	liver	carcinoma	Substitution - Missense
c.2639C>G; p.A880G; 4:86745117-86745117	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6213T>A; p.D2071E; 4:86785310-86785310	ovary	other; neoplasm	Substitution - Missense
c.1304A>G; p.E435G; 4:86717036-86717036	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3876G>T; p.E1292D; 4:86763049-86763049	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.54G>A; p.E18E; 4:86635310-86635310	skin	malignant_melanoma	Substitution - coding silent
c.5766C>T; p.S1922S; 4:86775512-86775512	skin	malignant_melanoma	Substitution - coding silent
c.6943C>G; p.Q2315E; 4:86807742-86807742	breast	carcinoma	Substitution - Missense
c.2190G>T; p.L730F; 4:86735632-86735632	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1684-1G>C; p.?; 4:86732591-86732591	breast	carcinoma	Unknown
c.3083C>T; p.A1028V; 4:86751041-86751041	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2786C>G; p.A929G; 4:86750605-86750605	breast	carcinoma	Substitution - Missense
c.2431G>T; p.V811L; 4:86741760-86741760	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2405T>C; p.V802A; 4:86741734-86741734	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2534G>A; p.G845D; 4:86745012-86745012	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4085A>C; p.K1362T; 4:86764660-86764660	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6631G>T; p.G2211C; 4:86803819-86803819	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5149C>G; p.Q1717E; 4:86771501-86771501	NS	NS	Substitution - Missense
c.1535C>T; p.S512F; 4:86722361-86722361	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7248C>T; p.G2416G; 4:86809918-86809918	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4505-3C>A; p.?; 4:86769766-86769766	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Unknown
c.646A>T; p.T216S; 4:86701252-86701252	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.716A>C; p.K239T; 4:86701322-86701322	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2284_2285delAC; p.T762fs*24; 4:86735726-86735727	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.6532C>T; p.L2178L; 4:86803720-86803720	breast	carcinoma	Substitution - coding silent
c.6346G>C; p.E2116Q; 4:86785922-86785922	breast	carcinoma	Substitution - Missense
c.4691G>A; p.G1564E; 4:86769955-86769955	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6237C>T; p.N2079N; 4:86785334-86785334	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7232C>T; p.T2411M; 4:86809902-86809902	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4950C>T; p.S1650S; 4:86771302-86771302	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6593C>T; p.T2198M; 4:86803781-86803781	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2853A>C; p.K951N; 4:86750672-86750672	breast	carcinoma	Substitution - Missense
c.2487+1G>T; p.?; 4:86741817-86741817	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.724G>A; p.G242R; 4:86701330-86701330	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7472G>A; p.2491; 4:86814550-86814550	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2513C>T; p.T838I; 4:86744991-86744991	pancreas	carcinoma	Substitution - Missense
c.6250G>T; p.A2084S; 4:86785347-86785347	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4686G>A; p.V1562V; 4:86769950-86769950	breast	carcinoma	Substitution - coding silent
c.4590A>C; p.Q1530H; 4:86769854-86769854	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3413T>C; p.L1138S; 4:86758777-86758777	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.301A>C; p.I101L; 4:86686716-86686716	ovary	other; neoplasm	Substitution - Missense
c.5275C>T; p.H1759Y; 4:86772869-86772869	skin	malignant_melanoma	Substitution - Missense
c.2422C>T; p.H808Y; 4:86741751-86741751	skin	malignant_melanoma	Substitution - Missense
c.1097G>A; p.R366Q; 4:86701703-86701703	skin	malignant_melanoma	Substitution - Missense
c.4146C>T; p.V1382V; 4:86764721-86764721	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5943T>G; p.S1981S; 4:86780438-86780438	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3770C>A; p.S1257Y; 4:86762943-86762943	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4483G>T; p.D1495Y; 4:86767955-86767955	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1222_1224delCAT; p.H408delH; 4:86716556-86716558	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - In frame
c.5320C>T; p.P1774S; 4:86772914-86772914	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3704C>T; p.P1235L; 4:86762877-86762877	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.423C>T; p.Y141Y; 4:86689067-86689067	pancreas	carcinoma	Substitution - coding silent
c.3754G>A; p.E1252K; 4:86762927-86762927	breast	carcinoma	Substitution - Missense
c.5485A>T; p.S1829C; 4:86774493-86774493	liver	carcinoma	Substitution - Missense
c.5485A>T; p.S1829C; 4:86774493-86774493	liver	carcinoma	Substitution - Missense
c.4385C>T; p.S1462F; 4:86767857-86767857	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4944C>T; p.C1648C; 4:86771296-86771296	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3525C>G; p.I1175M; 4:86759045-86759045	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4803T>G; p.I1601M; 4:86770184-86770184	breast	carcinoma	Substitution - Missense
c.4426G>T; p.D1476Y; 4:86767898-86767898	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1096C>A; p.R366R; 4:86701702-86701702	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.4890G>C; p.E1630D; 4:86771242-86771242	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1386-5T>C; p.?; 4:86722207-86722207	liver	carcinoma	Unknown
c.3239G>T; p.R1080I; 4:86758275-86758275	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4185C>T; p.V1395V; 4:86765415-86765415	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5184-1G>A; p.?; 4:86772777-86772777	skin	malignant_melanoma	Unknown
c.6966C>T; p.I2322I; 4:86807765-86807765	skin	malignant_melanoma	Substitution - coding silent
c.5262G>A; p.S1754S; 4:86772856-86772856	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5357T>G; p.F1786C; 4:86772951-86772951	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1138C>T; p.R380*; 4:86701744-86701744	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5262G>A; p.S1754S; 4:86772856-86772856	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.5300C>G; p.T1767S; 4:86772894-86772894	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1953T>C; p.T651T; 4:86734397-86734397	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3268G>T; p.E1090*; 4:86758304-86758304	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2019T>A; p.T673T; 4:86734743-86734743	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.7169C>A; p.P2390Q; 4:86809839-86809839	liver	carcinoma	Substitution - Missense
c.3268G>T; p.E1090*; 4:86758304-86758304	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2096C>A; p.S699Y; 4:86734820-86734820	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6594G>A; p.T2198T; 4:86803782-86803782	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.7169C>A; p.P2390Q; 4:86809839-86809839	liver	carcinoma	Substitution - Missense
c.5437C>T; p.Q1813*; 4:86774445-86774445	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2344C>T; p.R782*; 4:86741673-86741673	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2017A>G; p.T673A; 4:86734741-86734741	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2655A>G; p.R885R; 4:86750474-86750474	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.34C>T; p.R12W; 4:86635290-86635290	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2017A>G; p.T673A; 4:86734741-86734741	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2017A>G; p.T673A; 4:86734741-86734741	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4012A>G; p.K1338E; 4:86763185-86763185	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1444C>T; p.R482W; 4:86722270-86722270	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2017A>G; p.T673A; 4:86734741-86734741	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.356G>T; p.S119I; 4:86686771-86686771	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5261C>T; p.S1754L; 4:86772855-86772855	skin; face	malignant_melanoma	Substitution - Missense
c.2945G>A; p.R982Q; 4:86750764-86750764	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4581A>G; p.I1527M; 4:86769845-86769845	skin	malignant_melanoma	Substitution - Missense
c.4623C>T; p.L1541L; 4:86769887-86769887	skin	malignant_melanoma	Substitution - coding silent
c.5261C>T; p.S1754L; 4:86772855-86772855	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4581A>G; p.I1527M; 4:86769845-86769845	skin; knee	malignant_melanoma	Substitution - Missense
c.3344G>A; p.G1115E; 4:86758708-86758708	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1795G>A; p.D599N; 4:86732703-86732703	breast	carcinoma	Substitution - Missense
c.6577C>T; p.P2193S; 4:86803765-86803765	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2764G>A; p.V922I; 4:86750583-86750583	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.3048A>G; p.A1016A; 4:86750867-86750867	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.7111C>T; p.R2371C; 4:86809781-86809781	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7438G>C; p.E2480Q; 4:86814516-86814516	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2829C>T; p.Y943Y; 4:86750648-86750648	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2578C>A; p.L860I; 4:86745056-86745056	liver	carcinoma	Substitution - Missense
c.2578C>A; p.L860I; 4:86745056-86745056	liver	carcinoma	Substitution - Missense
c.2482T>G; p.F828V; 4:86741811-86741811	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2416G>C; p.E806Q; 4:86741745-86741745	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.798A>C; p.E266D; 4:86701404-86701404	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3719G>A; p.R1240Q; 4:86762892-86762892	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3719G>A; p.R1240Q; 4:86762892-86762892	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5082G>T; p.Q1694H; 4:86771434-86771434	pancreas	carcinoma	Substitution - Missense
c.2713C>T; p.R905*; 4:86750532-86750532	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4892A>T; p.Q1631L; 4:86771244-86771244	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4725C>T; p.V1575V; 4:86770106-86770106	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.998C>A; p.T333N; 4:86701604-86701604	liver	carcinoma	Substitution - Missense
c.6985C>T; p.P2329S; 4:86807784-86807784	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5989G>T; p.V1997L; 4:86782212-86782212	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1204C>T; p.R402*; 4:86716538-86716538	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1010C>G; p.P337R; 4:86701616-86701616	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1204C>T; p.R402*; 4:86716538-86716538	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2883A>G; p.E961E; 4:86750702-86750702	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.5577C>T; p.L1859L; 4:86775224-86775224	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2435G>A; p.R812H; 4:86741764-86741764	thyroid	carcinoma	Substitution - Missense
c.1204C>T; p.R402*; 4:86716538-86716538	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1204C>T; p.R402*; 4:86716538-86716538	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.5879T>G; p.L1960R; 4:86775625-86775625	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.6333T>C; p.G2111G; 4:86785909-86785909	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2810G>T; p.C937F; 4:86750629-86750629	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7400A>T; p.Q2467L; 4:86814478-86814478	skin	malignant_melanoma	Substitution - Missense
c.1195G>T; p.E399*; 4:86701801-86701801	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4578T>C; p.L1526L; 4:86769842-86769842	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.4830G>T; p.Q1610H; 4:86771182-86771182	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation