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	3075
Symbol	CFH
Synonymous	AHUS1\|AMBP1\|ARMD4\|ARMS1\|CFHL3\|FH\|FHL1\|HF\|HF1\|HF2\|HUS
Full name	complement factor H
Gene description	H factor 1 (complement)\|H factor 2 (complement)\|adrenomedullin binding protein\|age-related maculopathy susceptibility 1\|beta-1-H-globulin\|beta-1H\|factor H\|factor H-like 1
Cytoband	1q32
Gene type	protein-coding
Synonymous	MIM:134370; HGNC:HGNC:4883; Ensembl:ENSG00000000971; HPRD:00601; Vega:OTTHUMG00000035607

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1308G>C; p.W436C; 1:196690211-196690211	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1243G>A; p.A415T; 1:196690146-196690146	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.214G>A; p.V72I; 1:196673133-196673133	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.890G>T; p.G297V; 1:196685163-196685163	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3377C>T; p.S1126L; 1:196745883-196745883	breast	carcinoma	Substitution - Missense
c.416C>A; p.P139H; 1:196676054-196676054	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2855G>A; p.G952E; 1:196740691-196740691	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.355C>T; p.Q119*; 1:196675993-196675993	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.214G>A; p.V72I; 1:196673133-196673133	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.214G>A; p.V72I; 1:196673133-196673133	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1009C>T; p.H337Y; 1:196689464-196689464	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.626C>A; p.S209*; 1:196679629-196679629	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3012G>A; p.K1004K; 1:196741930-196741930	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.445G>A; p.V149M; 1:196677493-196677493	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1534C>T; p.P512S; 1:196715607-196715607	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3643C>T; p.R1215*; 1:196747260-196747260	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1636A>C; p.S546R; 1:196715709-196715709	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3134-5T>C; p.?; 1:196743447-196743447	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1660G>A; p.G554S; 1:196715733-196715733	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3012G>A; p.K1004K; 1:196741930-196741930	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1660G>A; p.G554S; 1:196715733-196715733	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3657G>T; p.W1219C; 1:196747274-196747274	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2085T>G; p.P695P; 1:196726789-196726789	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.524G>A; p.R175Q; 1:196677572-196677572	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1911C>T; p.L637L; 1:196726507-196726507	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.107C>T; p.S36F; 1:196673026-196673026	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2852A>G; p.Y951C; 1:196740688-196740688	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1400A>G; p.Y467C; 1:196713798-196713798	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.769C>T; p.R257C; 1:196679772-196679772	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.685G>A; p.E229K; 1:196679688-196679688	skin	malignant_melanoma	Substitution - Missense
c.1741G>A; p.D581N; 1:196725165-196725165	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.397G>A; p.G133R; 1:196676035-196676035	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3463G>A; p.G1155R; 1:196745969-196745969	skin	malignant_melanoma	Substitution - Missense
c.80G>T; p.R27I; 1:196672999-196672999	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.142G>A; p.A48T; 1:196673061-196673061	skin	malignant_melanoma	Substitution - Missense
c.2383G>A; p.G795R; 1:196728492-196728492	skin	malignant_melanoma	Substitution - Missense
c.1984A>G; p.R662G; 1:196726580-196726580	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3120G>A; p.R1040R; 1:196742038-196742038	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2808G>T; p.E936D; 1:196740644-196740644	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2808G>T; p.E936D; 1:196740644-196740644	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2808G>T; p.E936D; 1:196740644-196740644	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.583G>C; p.D195H; 1:196677631-196677631	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.865G>A; p.E289K; 1:196685138-196685138	breast	carcinoma	Substitution - Missense
c.58+1G>A; p.?; 1:196652176-196652176	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1706G>A; p.C569Y; 1:196725130-196725130	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3324A>T; p.K1108N; 1:196745830-196745830	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2681G>A; p.G894E; 1:196737559-196737559	skin	malignant_melanoma	Substitution - Missense
c.2384G>C; p.G795A; 1:196728493-196728493	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3253G>A; p.G1085R; 1:196743571-196743571	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2244T>A; p.D748E; 1:196728353-196728353	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3512G>A; p.R1171Q; 1:196747129-196747129	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1260C>A; p.Y420*; 1:196690163-196690163	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.778C>T; p.P260S; 1:196679781-196679781	central_nervous_system; brain	glioma	Substitution - Missense
c.3496C>A; p.P1166T; 1:196747113-196747113	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3496C>A; p.P1166T; 1:196747113-196747113	stomach	adenocarcinoma	Substitution - Missense
c.193G>A; p.V65I; 1:196673112-196673112	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2035A>C; p.T679P; 1:196726631-196726631	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2837C>T; p.S946L; 1:196740673-196740673	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2868G>A; p.T956T; 1:196740704-196740704	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.234G>A; p.R78R; 1:196673153-196673153	skin	malignant_melanoma	Substitution - coding silent
c.817C>A; p.P273T; 1:196685090-196685090	skin	malignant_melanoma	Substitution - Missense
c.1665C>A; p.Y555*; 1:196715738-196715738	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Nonsense
c.773C>T; p.P258L; 1:196679776-196679776	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.773C>T; p.P258L; 1:196679776-196679776	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2934G>A; p.W978*; 1:196740770-196740770	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2934G>A; p.W978*; 1:196740770-196740770	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1485_1486GA>AT; p.K496*; 1:196713883-196713884	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1090C>T; p.P364S; 1:196689545-196689545	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.266G>C; p.G89A; 1:196673878-196673878	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1965G>T; p.V655V; 1:196726561-196726561	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1785C>T; p.F595F; 1:196725209-196725209	skin	malignant_melanoma	Substitution - coding silent
c.3354G>A; p.G1118G; 1:196745860-196745860	skin	malignant_melanoma	Substitution - coding silent
c.2452C>T; p.P818S; 1:196736862-196736862	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.601G>A; p.E201K; 1:196677649-196677649	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2459C>A; p.S820Y; 1:196736869-196736869	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2380A>C; p.N794H; 1:196728489-196728489	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.104G>A; p.G35D; 1:196673023-196673023	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3110G>T; p.W1037L; 1:196742028-196742028	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2651C>T; p.S884F; 1:196737529-196737529	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.418A>G; p.I140V; 1:196676056-196676056	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1688T>C; p.I563T; 1:196715761-196715761	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2313C>T; p.F771F; 1:196728422-196728422	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2072G>A; p.C691Y; 1:196726776-196726776	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1977C>T; p.C659C; 1:196726573-196726573	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.550A>G; p.I184V; 1:196677598-196677598	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2088A>C; p.E696D; 1:196726792-196726792	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2069_2070CC>TT; p.T690I; 1:196726773-196726774	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2629G>A; p.E877K; 1:196737507-196737507	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3493C>T; p.H1165Y; 1:196745999-196745999	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2014C>A; p.Q672K; 1:196726610-196726610	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1916G>T; p.G639V; 1:196726512-196726512	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3465A>G; p.G1155G; 1:196745971-196745971	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3138C>T; p.T1046T; 1:196743456-196743456	thyroid	other; neoplasm	Substitution - coding silent
c.3290C>T; p.T1097M; 1:196743608-196743608	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3138C>T; p.T1046T; 1:196743456-196743456	thyroid	other; neoplasm	Substitution - coding silent
c.3290C>T; p.T1097M; 1:196743608-196743608	oesophagus	carcinoma	Substitution - Missense
c.464_465insA; p.I157fs*4; 1:196677512-196677513	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1442A>G; p.Y481C; 1:196713840-196713840	pancreas	carcinoma	Substitution - Missense
c.1442A>G; p.Y481C; 1:196713840-196713840	prostate	carcinoma	Substitution - Missense
c.913A>C; p.N305H; 1:196685186-196685186	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2040T>C; p.T680T; 1:196726636-196726636	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.625T>G; p.S209A; 1:196679628-196679628	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2633A>C; p.H878P; 1:196737511-196737511	thyroid	other; neoplasm	Substitution - Missense
c.2871C>T; p.Y957Y; 1:196740707-196740707	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1895C>T; p.P632L; 1:196726491-196726491	skin	malignant_melanoma	Substitution - Missense
c.3572C>T; p.S1191L; 1:196747189-196747189	skin	malignant_melanoma	Substitution - Missense
c.871A>T; p.T291S; 1:196685144-196685144	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1597G>A; p.D533N; 1:196715670-196715670	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3523G>A; p.E1175K; 1:196747140-196747140	skin	malignant_melanoma	Substitution - Missense
c.1351T>C; p.S451P; 1:196713749-196713749	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.3172T>C; p.Y1058H; 1:196743490-196743490	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2728G>T; p.E910*; 1:196737606-196737606	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1823C>A; p.S608Y; 1:196725247-196725247	breast	carcinoma	Substitution - Missense
c.2728G>T; p.E910*; 1:196737606-196737606	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.898C>T; p.P300S; 1:196685171-196685171	skin	malignant_melanoma	Substitution - Missense
c.259C>G; p.H87D; 1:196673871-196673871	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1049G>A; p.G350E; 1:196689504-196689504	skin	malignant_melanoma	Substitution - Missense
c.1049G>A; p.G350E; 1:196689504-196689504	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.921A>C; p.A307A; 1:196685194-196685194	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2835G>T; p.M945I; 1:196740671-196740671	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2103G>A; p.W701*; 1:196726807-196726807	skin	malignant_melanoma	Substitution - Nonsense
c.2634C>T; p.H878H; 1:196737512-196737512	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.71T>G; p.L24R; 1:196672990-196672990	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3573G>A; p.S1191S; 1:196747190-196747190	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2918G>T; p.C973F; 1:196740754-196740754	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1031A>T; p.Y344F; 1:196689486-196689486	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1031A>T; p.Y344F; 1:196689486-196689486	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1566C>A; p.D522E; 1:196715639-196715639	breast	carcinoma	Substitution - Missense
c.2488C>T; p.R830W; 1:196736898-196736898	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.798A>G; p.S266S; 1:196685071-196685071	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3498G>A; p.P1166P; 1:196747115-196747115	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.243G>T; p.Q81H; 1:196673162-196673162	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2488C>T; p.R830W; 1:196736898-196736898	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.442C>T; p.P148S; 1:196677490-196677490	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1160G>A; p.R387K; 1:196690063-196690063	skin	malignant_melanoma	Substitution - Missense
c.1160G>A; p.R387K; 1:196690063-196690063	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3481C>T; p.P1161S; 1:196745987-196745987	skin	malignant_melanoma	Substitution - Missense
c.496C>T; p.R166W; 1:196677544-196677544	skin	malignant_melanoma	Substitution - Missense
c.1798G>A; p.G600R; 1:196725222-196725222	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1798G>A; p.G600R; 1:196725222-196725222	skin	malignant_melanoma	Substitution - Missense
c.2353G>A; p.E785K; 1:196728462-196728462	skin; neck	malignant_melanoma	Substitution - Missense
c.3583G>A; p.E1195K; 1:196747200-196747200	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.695G>A; p.R232Q; 1:196679698-196679698	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2118C>T; p.S706S; 1:196726822-196726822	breast	carcinoma	Substitution - coding silent
c.827A>G; p.D276G; 1:196685100-196685100	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1419G>A; p.A473A; 1:196713817-196713817	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1397C>A; p.T466K; 1:196713795-196713795	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1419G>A; p.A473A; 1:196713817-196713817	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2118C>T; p.S706S; 1:196726822-196726822	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2189C>T; p.S730L; 1:196726893-196726893	skin; mucosal	malignant_melanoma	Substitution - Missense
c.3609G>C; p.R1203R; 1:196747226-196747226	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1756C>T; p.Q586*; 1:196725180-196725180	skin	malignant_melanoma	Substitution - Nonsense
c.3187C>T; p.Q1063*; 1:196743505-196743505	prostate	adenoma	Substitution - Nonsense
c.3187C>T; p.Q1063*; 1:196743505-196743505	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1852C>T; p.P618S; 1:196725276-196725276	skin	malignant_melanoma	Substitution - Missense
c.2727A>C; p.E909D; 1:196737605-196737605	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3031G>A; p.G1011S; 1:196741949-196741949	skin	malignant_melanoma	Substitution - Missense
c.3549G>A; p.W1183*; 1:196747166-196747166	skin	malignant_melanoma	Substitution - Nonsense
c.2263T>C; p.S755P; 1:196728372-196728372	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1708G>A; p.E570K; 1:196725132-196725132	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3319G>A; p.G1107R; 1:196745825-196745825	skin	malignant_melanoma	Substitution - Missense
c.1708G>A; p.E570K; 1:196725132-196725132	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1708G>A; p.E570K; 1:196725132-196725132	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1708G>A; p.E570K; 1:196725132-196725132	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2014C>T; p.Q672*; 1:196726610-196726610	skin	malignant_melanoma	Substitution - Nonsense
c.2014C>T; p.Q672*; 1:196726610-196726610	NS	malignant_melanoma	Substitution - Nonsense
c.451G>A; p.A151T; 1:196677499-196677499	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2014C>T; p.Q672*; 1:196726610-196726610	NS	malignant_melanoma	Substitution - Nonsense
c.3607C>T; p.R1203W; 1:196747224-196747224	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1995G>A; p.M665I; 1:196726591-196726591	skin	malignant_melanoma	Substitution - Missense
c.2926G>A; p.E976K; 1:196740762-196740762	skin	malignant_melanoma	Substitution - Missense
c.1411G>T; p.E471*; 1:196713809-196713809	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2209G>A; p.V737I; 1:196726913-196726913	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2813C>A; p.S938Y; 1:196740649-196740649	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3660_3661TG>AT; p.D1220>?; 1:196747277-196747278	lung	carcinoma; adenocarcinoma	Complex
c.3445C>T; p.R1149*; 1:196745951-196745951	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3607C>T; p.R1203W; 1:196747224-196747224	prostate	adenoma	Substitution - Missense
c.3607C>T; p.R1203W; 1:196747224-196747224	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.837T>G; p.P279P; 1:196685110-196685110	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2137G>T; p.D713Y; 1:196726841-196726841	oesophagus	carcinoma	Substitution - Missense
c.1079A>G; p.H360R; 1:196689534-196689534	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1075G>A; p.E359K; 1:196689530-196689530	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2806G>A; p.E936K; 1:196740642-196740642	breast	carcinoma	Substitution - Missense
c.2654G>T; p.R885M; 1:196737532-196737532	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3179T>C; p.V1060A; 1:196743497-196743497	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.272C>A; p.T91N; 1:196673884-196673884	breast	carcinoma	Substitution - Missense
c.1552A>G; p.R518G; 1:196715625-196715625	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.467A>T; p.K156I; 1:196677515-196677515	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3239C>T; p.P1080L; 1:196743557-196743557	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3134-3C>T; p.?; 1:196743449-196743449	skin; leg	malignant_melanoma	Unknown
c.3134-3C>T; p.?; 1:196743449-196743449	skin; leg	malignant_melanoma	Unknown
c.2341T>C; p.C781R; 1:196728450-196728450	meninges	meningioma	Substitution - Missense
c.2734G>A; p.E912K; 1:196737612-196737612	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3486A>G; p.K1162K; 1:196745992-196745992	skin	malignant_melanoma	Substitution - coding silent
c.1753G>A; p.D585N; 1:196725177-196725177	skin	malignant_melanoma	Substitution - Missense
c.1753G>A; p.D585N; 1:196725177-196725177	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1811T>G; p.V604G; 1:196725235-196725235	pancreas	carcinoma	Substitution - Missense
c.3554C>A; p.A1185D; 1:196747171-196747171	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3314C>A; p.S1105Y; 1:196745820-196745820	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1091C>T; p.P364L; 1:196689546-196689546	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.2105C>T; p.A702V; 1:196726809-196726809	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1297G>A; p.E433K; 1:196690200-196690200	urinary_tract; bladder	carcinoma	Substitution - Missense
c.252C>A; p.P84P; 1:196673864-196673864	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2553T>G; p.I851M; 1:196736963-196736963	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3065A>G; p.Y1022C; 1:196741983-196741983	breast	carcinoma	Substitution - Missense
c.158G>A; p.R53H; 1:196673077-196673077	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3221G>A; p.R1074H; 1:196743539-196743539	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.415C>T; p.P139S; 1:196676053-196676053	skin	malignant_melanoma	Substitution - Missense
c.635C>T; p.S212F; 1:196679638-196679638	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1403C>T; p.A468V; 1:196713801-196713801	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.470T>G; p.I157S; 1:196677518-196677518	skin	malignant_melanoma	Substitution - Missense
c.1219delG; p.V407fs*6; 1:196690122-196690122	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.644T>G; p.V215G; 1:196679647-196679647	skin	malignant_melanoma	Substitution - Missense
c.3288G>T; p.W1096C; 1:196743606-196743606	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1224delG; p.G409fs*4; 1:196690127-196690127	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2114C>T; p.S705F; 1:196726818-196726818	breast	carcinoma	Substitution - Missense
c.1714C>T; p.P572S; 1:196725138-196725138	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1603G>T; p.E535*; 1:196715676-196715676	breast	carcinoma	Substitution - Nonsense
c.1714C>T; p.P572S; 1:196725138-196725138	skin	malignant_melanoma	Substitution - Missense
c.98T>G; p.L33R; 1:196673017-196673017	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.800G>A; p.C267Y; 1:196685073-196685073	urinary_tract; bladder	carcinoma	Substitution - Missense
c.210A>C; p.E70D; 1:196673129-196673129	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.314A>C; p.E105A; 1:196673926-196673926	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.3320G>A; p.G1107E; 1:196745826-196745826	skin	malignant_melanoma	Substitution - Missense
c.2958A>G; p.K986K; 1:196741876-196741876	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3320G>A; p.G1107E; 1:196745826-196745826	skin	malignant_melanoma	Substitution - Missense
c.2958A>G; p.K986K; 1:196741876-196741876	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2195C>T; p.T732M; 1:196726899-196726899	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.206G>A; p.G69E; 1:196673125-196673125	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3696G>A; p.1232; 1:196747313-196747313	skin	malignant_melanoma	Substitution - coding silent
c.3696G>A; p.1232; 1:196747313-196747313	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2360G>A; p.W787*; 1:196728469-196728469	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2360G>A; p.W787*; 1:196728469-196728469	skin; abdomen	malignant_melanoma	Substitution - Nonsense
c.1090C>A; p.P364T; 1:196689545-196689545	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1274C>T; p.A425V; 1:196690177-196690177	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.94A>C; p.I32L; 1:196673013-196673013	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.658C>T; p.P220S; 1:196679661-196679661	skin	malignant_melanoma	Substitution - Missense
c.2428delT; p.L810fs*14; 1:196736838-196736838	liver	carcinoma	Deletion - Frameshift
c.245-7G>A; p.?; 1:196673850-196673850	prostate	carcinoma	Unknown
c.2530C>T; p.L844L; 1:196736940-196736940	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.796T>C; p.S266P; 1:196685069-196685069	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2923G>A; p.G975R; 1:196740759-196740759	pancreas	carcinoma	Substitution - Missense
c.2896G>A; p.D966N; 1:196740732-196740732	NS	malignant_melanoma	Substitution - Missense
c.1102T>C; p.Y368H; 1:196689557-196689557	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2602A>T; p.I868F; 1:196737480-196737480	prostate	carcinoma	Substitution - Missense
c.3180G>T; p.V1060V; 1:196743498-196743498	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3292G>A; p.E1098K; 1:196743610-196743610	skin	malignant_melanoma	Substitution - Missense
c.23T>G; p.I8S; 1:196652140-196652140	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2029G>A; p.E677K; 1:196726625-196726625	skin	malignant_melanoma	Substitution - Missense
c.86A>C; p.N29T; 1:196673005-196673005	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1949G>A; p.G650E; 1:196726545-196726545	skin	malignant_melanoma	Substitution - Missense
c.3056C>T; p.A1019V; 1:196741974-196741974	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2029G>A; p.E677K; 1:196726625-196726625	skin	malignant_melanoma	Substitution - Missense
c.34T>G; p.L12V; 1:196652151-196652151	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2149T>A; p.F717I; 1:196726853-196726853	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2260A>T; p.K754*; 1:196728369-196728369	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1669G>C; p.G557R; 1:196715742-196715742	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1927G>A; p.E643K; 1:196726523-196726523	skin	malignant_melanoma	Substitution - Missense
c.161C>A; p.P54H; 1:196673080-196673080	central_nervous_system; brain	glioma	Substitution - Missense
c.1189G>A; p.G397R; 1:196690092-196690092	skin	malignant_melanoma	Substitution - Missense
c.3666A>G; p.K1222K; 1:196747283-196747283	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2494G>A; p.G832R; 1:196736904-196736904	skin	malignant_melanoma	Substitution - Missense
c.98T>C; p.L33P; 1:196673017-196673017	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3611G>A; p.G1204E; 1:196747228-196747228	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.764G>A; p.G255E; 1:196679767-196679767	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.764G>A; p.G255E; 1:196679767-196679767	skin	malignant_melanoma	Substitution - Missense
c.2207G>T; p.G736V; 1:196726911-196726911	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1772A>T; p.E591V; 1:196725196-196725196	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3327T>C; p.C1109C; 1:196745833-196745833	liver	carcinoma	Substitution - coding silent
c.2941C>T; p.P981S; 1:196740777-196740777	skin	malignant_melanoma	Substitution - Missense
c.1580A>C; p.K527T; 1:196715653-196715653	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1744C>T; p.R582C; 1:196725168-196725168	skin; arm	malignant_melanoma	Substitution - Missense
c.3619C>A; p.L1207I; 1:196747236-196747236	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3147G>A; p.V1049V; 1:196743465-196743465	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.506A>G; p.H169R; 1:196677554-196677554	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1061C>T; p.S354F; 1:196689516-196689516	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3147G>A; p.V1049V; 1:196743465-196743465	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1337-1G>A; p.?; 1:196713734-196713734	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.3147G>A; p.V1049V; 1:196743465-196743465	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2783-2A>T; p.?; 1:196740617-196740617	skin	malignant_melanoma	Unknown
c.506A>G; p.H169R; 1:196677554-196677554	liver	carcinoma	Substitution - Missense
c.1347C>T; p.S449S; 1:196713745-196713745	skin	malignant_melanoma	Substitution - coding silent
c.2730A>C; p.E910D; 1:196737608-196737608	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3663G>A; p.G1221G; 1:196747280-196747280	skin	malignant_melanoma	Substitution - coding silent
c.438T>C; p.C146C; 1:196677486-196677486	skin	malignant_melanoma	Substitution - coding silent
c.3605A>T; p.K1202I; 1:196747222-196747222	central_nervous_system; brain	glioma	Substitution - Missense
c.1239C>T; p.D413D; 1:196690142-196690142	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.20T>C; p.I7T; 1:196652137-196652137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2192T>A; p.I731N; 1:196726896-196726896	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.36A>G; p.L12L; 1:196652153-196652153	liver	carcinoma	Substitution - coding silent
c.1581G>T; p.K527N; 1:196715654-196715654	ovary	other; neoplasm	Substitution - Missense
c.3094T>A; p.C1032S; 1:196742012-196742012	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3094T>A; p.C1032S; 1:196742012-196742012	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1581G>T; p.K527N; 1:196715654-196715654	ovary	other; neoplasm	Substitution - Missense
c.36A>G; p.L12L; 1:196652153-196652153	liver	carcinoma	Substitution - coding silent
c.173C>A; p.S58Y; 1:196673092-196673092	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1312C>A; p.P438T; 1:196690215-196690215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.603G>A; p.E201E; 1:196677651-196677651	skin	malignant_melanoma	Substitution - coding silent
c.1698A>T; p.E566D; 1:196725122-196725122	skin	malignant_melanoma	Substitution - Missense
c.213G>T; p.W71C; 1:196673132-196673132	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.802G>A; p.D268N; 1:196685075-196685075	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2899G>T; p.G967W; 1:196740735-196740735	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.365G>T; p.G122V; 1:196676003-196676003	large_intestine	adenoma	Substitution - Missense
c.3592G>T; p.E1198*; 1:196747209-196747209	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1670G>T; p.G557V; 1:196715743-196715743	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1204C>T; p.H402Y; 1:196690107-196690107	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1204C>T; p.H402Y; 1:196690107-196690107	breast	carcinoma	Substitution - Missense
c.1487A>C; p.K496T; 1:196713885-196713885	liver	carcinoma	Substitution - Missense
c.2220A>G; p.Q740Q; 1:196726924-196726924	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.343A>T; p.N115Y; 1:196673955-196673955	breast	carcinoma	Substitution - Missense
c.1787C>A; p.S596Y; 1:196725211-196725211	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1485G>A; p.G495G; 1:196713883-196713883	skin	malignant_melanoma	Substitution - coding silent
c.1860C>T; p.L620L; 1:196725284-196725284	skin; upper_leg	malignant_melanoma	Substitution - coding silent
c.1120T>G; p.C374G; 1:196689575-196689575	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1767T>A; p.V589V; 1:196725191-196725191	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1211G>T; p.R404I; 1:196690114-196690114	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1572A>G; p.T524T; 1:196715645-196715645	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.67G>A; p.E23K; 1:196672986-196672986	skin	malignant_melanoma	Substitution - Missense
c.931A>C; p.S311R; 1:196685204-196685204	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3507A>T; p.I1169I; 1:196747124-196747124	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.161C>T; p.P54L; 1:196673080-196673080	skin	malignant_melanoma	Substitution - Missense
c.838T>C; p.L280L; 1:196685111-196685111	skin	malignant_melanoma	Substitution - coding silent
c.620-1G>T; p.?; 1:196679622-196679622	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.841A>T; p.R281W; 1:196685114-196685114	liver	carcinoma	Substitution - Missense
c.2483A>T; p.N828I; 1:196736893-196736893	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1523C>A; p.S508Y; 1:196715596-196715596	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.428-1G>T; p.?; 1:196677475-196677475	lung	carcinoma; adenocarcinoma	Unknown
c.1099A>C; p.S367R; 1:196689554-196689554	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.184G>A; p.V62I; 1:196673103-196673103	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1745G>T; p.R582L; 1:196725169-196725169	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.243G>A; p.Q81Q; 1:196673162-196673162	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3355G>A; p.D1119N; 1:196745861-196745861	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.752G>C; p.C251S; 1:196679755-196679755	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2605C>T; p.P869S; 1:196737483-196737483	skin	malignant_melanoma	Substitution - Missense
c.2605C>T; p.P869S; 1:196737483-196737483	NS	malignant_melanoma	Substitution - Missense
c.3616C>T; p.R1206C; 1:196747233-196747233	skin	malignant_melanoma	Substitution - Missense
c.2605C>T; p.P869S; 1:196737483-196737483	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2117C>T; p.S706F; 1:196726821-196726821	skin	malignant_melanoma	Substitution - Missense
c.1022G>A; p.R341H; 1:196689477-196689477	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1022G>A; p.R341H; 1:196689477-196689477	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2314G>A; p.D772N; 1:196728423-196728423	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1022G>A; p.R341H; 1:196689477-196689477	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3329G>C; p.G1110A; 1:196745835-196745835	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.575G>C; p.C192S; 1:196677623-196677623	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.774G>A; p.P258P; 1:196679777-196679777	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2606C>T; p.P869L; 1:196737484-196737484	prostate	carcinoma	Substitution - Missense
c.1192T>C; p.Y398H; 1:196690095-196690095	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.774G>A; p.P258P; 1:196679777-196679777	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3658G>A; p.D1220N; 1:196747275-196747275	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.3072delG; p.D1025fs*6; 1:196741990-196741990	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.674T>G; p.I225S; 1:196679677-196679677	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3294A>G; p.E1098E; 1:196743612-196743612	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.81A>T; p.R27S; 1:196673000-196673000	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.651T>C; p.N217N; 1:196679654-196679654	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2798C>T; p.S933F; 1:196740634-196740634	skin	malignant_melanoma	Substitution - Missense
c.2054T>C; p.I685T; 1:196726650-196726650	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1260C>T; p.Y420Y; 1:196690163-196690163	breast	carcinoma	Substitution - coding silent
c.1843G>A; p.G615R; 1:196725267-196725267	skin	malignant_melanoma	Substitution - Missense
c.1182G>T; p.L394F; 1:196690085-196690085	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3654T>C; p.C1218C; 1:196747271-196747271	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2860G>A; p.E954K; 1:196740696-196740696	liver	carcinoma	Substitution - Missense
c.2860G>A; p.E954K; 1:196740696-196740696	liver	carcinoma	Substitution - Missense
c.2161G>A; p.E721K; 1:196726865-196726865	skin	malignant_melanoma	Substitution - Missense
c.2454C>T; p.P818P; 1:196736864-196736864	skin	malignant_melanoma	Substitution - coding silent
c.2016A>G; p.Q672Q; 1:196726612-196726612	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2016A>G; p.Q672Q; 1:196726612-196726612	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1494A>T; p.G498G; 1:196713892-196713892	breast	carcinoma	Substitution - coding silent
c.221T>G; p.L74R; 1:196673140-196673140	skin	malignant_melanoma	Substitution - Missense
c.2753G>A; p.G918E; 1:196737631-196737631	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3580G>A; p.G1194S; 1:196747197-196747197	skin; trunk	malignant_melanoma	Substitution - Missense
c.2224C>T; p.P742S; 1:196726928-196726928	skin	malignant_melanoma	Substitution - Missense
c.3060A>T; p.T1020T; 1:196741978-196741978	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.591T>G; p.F197L; 1:196677639-196677639	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.445G>T; p.V149L; 1:196677493-196677493	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3487T>C; p.C1163R; 1:196745993-196745993	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1493G>A; p.G498E; 1:196713891-196713891	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1493G>A; p.G498E; 1:196713891-196713891	skin	malignant_melanoma	Substitution - Missense
c.652G>T; p.G218*; 1:196679655-196679655	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.230T>C; p.L77S; 1:196673149-196673149	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.302G>A; p.G101E; 1:196673914-196673914	skin	malignant_melanoma	Substitution - Missense
c.302G>A; p.G101E; 1:196673914-196673914	skin	malignant_melanoma	Substitution - Missense
c.2710G>A; p.G904S; 1:196737588-196737588	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2104G>A; p.A702T; 1:196726808-196726808	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1928A>G; p.E643G; 1:196726524-196726524	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1852C>A; p.P618T; 1:196725276-196725276	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1707C>T; p.C569C; 1:196725131-196725131	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3346G>C; p.D1116H; 1:196745852-196745852	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2282T>C; p.L761P; 1:196728391-196728391	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1003C>G; p.L335V; 1:196689458-196689458	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2521G>T; p.E841*; 1:196736931-196736931	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2669G>C; p.S890T; 1:196737547-196737547	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2815delC; p.H939fs*4; 1:196740651-196740651	lung	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1927_1928insA; p.T645fs*9; 1:196726523-196726524	oesophagus	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3642G>A; p.L1214L; 1:196747259-196747259	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2798C>A; p.S933Y; 1:196740634-196740634	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1927_1928insA; p.T645fs*9; 1:196726523-196726524	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2118C>A; p.S706S; 1:196726822-196726822	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.3369C>T; p.F1123F; 1:196745875-196745875	thyroid	carcinoma	Substitution - coding silent
c.3175A>T; p.I1059L; 1:196743493-196743493	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3369C>T; p.F1123F; 1:196745875-196745875	skin	malignant_melanoma	Substitution - coding silent
c.3634C>T; p.H1212Y; 1:196747251-196747251	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.454C>A; p.P152T; 1:196677502-196677502	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.2660C>T; p.S887L; 1:196737538-196737538	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1935G>A; p.T645T; 1:196726531-196726531	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1935G>A; p.T645T; 1:196726531-196726531	skin	malignant_melanoma	Substitution - coding silent
c.3525A>C; p.E1175D; 1:196747142-196747142	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2681G>T; p.G894V; 1:196737559-196737559	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3510C>T; p.S1170S; 1:196747127-196747127	skin	malignant_melanoma	Substitution - coding silent
c.739G>A; p.G247R; 1:196679742-196679742	skin	malignant_melanoma	Substitution - Missense
c.58G>A; p.D20N; 1:196652175-196652175	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.221T>C; p.L74P; 1:196673140-196673140	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2357G>T; p.G786V; 1:196728466-196728466	urinary_tract; bladder	carcinoma	Substitution - Missense
c.739G>A; p.G247R; 1:196679742-196679742	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2813C>T; p.S938F; 1:196740649-196740649	skin	malignant_melanoma	Substitution - Missense
c.1799G>A; p.G600E; 1:196725223-196725223	skin	malignant_melanoma	Substitution - Missense
c.2668A>C; p.S890R; 1:196737546-196737546	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1933A>G; p.T645A; 1:196726529-196726529	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1021C>T; p.R341C; 1:196689476-196689476	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.427G>A; p.V143I; 1:196676065-196676065	pancreas	carcinoma	Substitution - Missense
c.381T>C; p.R127R; 1:196676019-196676019	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3511C>T; p.R1171*; 1:196747128-196747128	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3511C>T; p.R1171*; 1:196747128-196747128	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1738C>T; p.P580S; 1:196725162-196725162	skin	malignant_melanoma	Substitution - Missense
c.134G>A; p.G45D; 1:196673053-196673053	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.811T>C; p.Y271H; 1:196685084-196685084	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3446G>A; p.R1149Q; 1:196745952-196745952	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2206G>A; p.G736R; 1:196726910-196726910	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.786T>C; p.C262C; 1:196679789-196679789	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2540A>T; p.E847V; 1:196736950-196736950	breast	carcinoma	Substitution - Missense
c.1168T>C; p.Y390H; 1:196690071-196690071	skin; mucosal	malignant_melanoma	Substitution - Missense
c.983C>T; p.P328L; 1:196689438-196689438	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2497G>A; p.E833K; 1:196736907-196736907	skin	malignant_melanoma	Substitution - Missense
c.1430G>A; p.C477Y; 1:196713828-196713828	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1774G>A; p.V592M; 1:196725198-196725198	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.80_81GA>TT; p.R27>?; 1:196672999-196673000	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Complex
c.3329G>T; p.G1110V; 1:196745835-196745835	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.637C>T; p.P213S; 1:196679640-196679640	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1679A>G; p.D560G; 1:196715752-196715752	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.523C>T; p.R175W; 1:196677571-196677571	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3372G>A; p.P1124P; 1:196745878-196745878	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2378T>C; p.I793T; 1:196728487-196728487	pancreas	carcinoma	Substitution - Missense
c.1253C>T; p.P418L; 1:196690156-196690156	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.379C>T; p.R127C; 1:196676017-196676017	liver	carcinoma	Substitution - Missense
c.2207G>C; p.G736A; 1:196726911-196726911	breast	carcinoma	Substitution - Missense
c.3629G>A; p.R1210H; 1:196747246-196747246	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3211_3212delGA; p.R1072fs*6; 1:196743529-196743530	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.3178G>C; p.V1060L; 1:196743496-196743496	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.712A>G; p.N238D; 1:196679715-196679715	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3249G>T; p.M1083I; 1:196743567-196743567	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2502A>G; p.K834K; 1:196736912-196736912	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1267C>T; p.P423S; 1:196690170-196690170	skin	malignant_melanoma	Substitution - Missense
c.1360G>A; p.D454N; 1:196713758-196713758	ovary	other; neoplasm	Substitution - Missense
c.872C>T; p.T291M; 1:196685145-196685145	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2912C>T; p.A971V; 1:196740748-196740748	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.596G>C; p.S199T; 1:196677644-196677644	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1926G>A; p.K642K; 1:196726522-196726522	skin	malignant_melanoma	Substitution - coding silent
c.596G>C; p.S199T; 1:196677644-196677644	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1027C>T; p.P343S; 1:196689482-196689482	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3263A>G; p.E1088G; 1:196743581-196743581	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.636C>T; p.S212S; 1:196679639-196679639	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3431T>G; p.L1144R; 1:196745937-196745937	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2928A>G; p.E976E; 1:196740764-196740764	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1985G>A; p.R662K; 1:196726581-196726581	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.141G>T; p.Q47H; 1:196673060-196673060	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3255G>T; p.G1085G; 1:196743573-196743573	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2682G>C; p.G894G; 1:196737560-196737560	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1787C>T; p.S596F; 1:196725211-196725211	skin	malignant_melanoma	Substitution - Missense
c.2208A>G; p.G736G; 1:196726912-196726912	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.1140G>A; p.S380S; 1:196689595-196689595	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2981G>T; p.S994I; 1:196741899-196741899	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2146G>A; p.E716K; 1:196726850-196726850	skin	malignant_melanoma	Substitution - Missense
c.2158T>A; p.S720T; 1:196726862-196726862	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2706G>T; p.E902D; 1:196737584-196737584	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.141G>T; p.Q47H; 1:196673060-196673060	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.964+1G>A; p.?; 1:196685238-196685238	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Unknown
c.2158T>A; p.S720T; 1:196726862-196726862	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1284A>G; p.T428T; 1:196690187-196690187	breast	carcinoma	Substitution - coding silent
c.2993C>T; p.A998V; 1:196741911-196741911	skin	malignant_melanoma	Substitution - Missense
c.863A>C; p.D288A; 1:196685136-196685136	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2391G>A; p.W797*; 1:196728500-196728500	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2391G>A; p.W797*; 1:196728500-196728500	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2684C>T; p.T895I; 1:196737562-196737562	skin	malignant_melanoma	Substitution - Missense
c.1374G>A; p.G458G; 1:196713772-196713772	skin	malignant_melanoma	Substitution - coding silent
c.2084C>A; p.P695H; 1:196726788-196726788	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2596+2T>C; p.?; 1:196737008-196737008	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.289A>G; p.T97A; 1:196673901-196673901	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1643C>G; p.T548S; 1:196715716-196715716	breast	carcinoma	Substitution - Missense
c.770G>A; p.R257H; 1:196679773-196679773	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.236A>T; p.K79I; 1:196673155-196673155	pancreas	carcinoma	Substitution - Missense
c.3311-1G>T; p.?; 1:196745816-196745816	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.770G>A; p.R257H; 1:196679773-196679773	breast	carcinoma	Substitution - Missense
c.3311-1G>T; p.?; 1:196745816-196745816	lung	carcinoma; adenocarcinoma	Unknown
c.2899G>A; p.G967R; 1:196740735-196740735	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.171A>G; p.R57R; 1:196673090-196673090	skin	malignant_melanoma	Substitution - coding silent
c.3348C>T; p.D1116D; 1:196745854-196745854	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation