Entrez Gene

Basic Information
Gene ID	11073
Name	TOPBP1
Synonymous	topoisomerase (DNA) II binding protein 1;TOPBP1;topoisomerase (DNA) II binding protein 1
Definition	DNA topoisomerase 2-binding protein 1\|DNA topoisomerase II-beta-binding protein 1\|DNA topoisomerase II-binding protein 1
Position	3q22.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.3550C>T; p.Q1184*; 3:133616874-133616874	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4157T>C; p.L1386P; 3:133608542-133608542	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.670C>T; p.L224F; 3:133652621-133652621	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2403C>G; p.S801R; 3:133628590-133628590	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4154A>T; p.Y1385F; 3:133608545-133608545	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3845G>T; p.R1282I; 3:133611071-133611071	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2377C>T; p.R793*; 3:133628616-133628616	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3864G>C; p.M1288I; 3:133611052-133611052	thyroid	carcinoma	Substitution - Missense
c.3263T>C; p.V1088A; 3:133618281-133618281	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1975C>A; p.R659R; 3:133638160-133638160	liver	carcinoma	Substitution - coding silent
c.3371C>T; p.P1124L; 3:133617287-133617287	skin; extremity	malignant_melanoma	Substitution - Missense
c.1975C>A; p.R659R; 3:133638160-133638160	liver	carcinoma	Substitution - coding silent
c.986C>T; p.A329V; 3:133649786-133649786	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.517C>A; p.H173N; 3:133653489-133653489	breast	carcinoma	Substitution - Missense
c.2108C>G; p.A703G; 3:133638027-133638027	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1452C>T; p.I484I; 3:133644155-133644155	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3499-1G>C; p.?; 3:133616926-133616926	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.4025C>G; p.P1342R; 3:133608674-133608674	meninges	meningioma	Substitution - Missense
c.4044A>T; p.T1348T; 3:133608655-133608655	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1080C>T; p.Y360Y; 3:133649546-133649546	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4142A>G; p.Y1381C; 3:133608557-133608557	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3068G>A; p.R1023H; 3:133620197-133620197	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2751G>A; p.V917V; 3:133623374-133623374	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1838G>A; p.R613H; 3:133640093-133640093	breast	carcinoma	Substitution - Missense
c.340C>G; p.L114V; 3:133655431-133655431	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2540A>G; p.Y847C; 3:133628365-133628365	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1366G>A; p.D456N; 3:133644241-133644241	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2008A>G; p.N670D; 3:133638127-133638127	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1709C>G; p.A570G; 3:133643251-133643251	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3610+9A>G; p.?; 3:133616805-133616805	liver	carcinoma	Unknown
c.2517C>T; p.I839I; 3:133628388-133628388	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3610+9A>G; p.?; 3:133616805-133616805	liver	carcinoma	Unknown
c.2562A>G; p.T854T; 3:133624157-133624157	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2096T>G; p.F699C; 3:133638039-133638039	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2096T>G; p.F699C; 3:133638039-133638039	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.3301C>T; p.P1101S; 3:133618243-133618243	kidney	other; neoplasm	Substitution - Missense
c.1906G>C; p.E636Q; 3:133640025-133640025	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3768C>T; p.F1256F; 3:133612395-133612395	skin	malignant_melanoma	Substitution - coding silent
c.1550A>G; p.E517G; 3:133644057-133644057	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1550A>G; p.E517G; 3:133644057-133644057	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1748T>A; p.L583H; 3:133643212-133643212	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.349A>C; p.I117L; 3:133655422-133655422	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3679C>T; p.R1227*; 3:133612484-133612484	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3679C>T; p.R1227*; 3:133612484-133612484	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3734C>T; p.S1245F; 3:133612429-133612429	liver	carcinoma	Substitution - Missense
c.2321C>T; p.T774M; 3:133628672-133628672	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2321C>T; p.T774M; 3:133628672-133628672	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3787G>C; p.E1263Q; 3:133611129-133611129	breast	carcinoma	Substitution - Missense
c.3486C>T; p.H1162H; 3:133617172-133617172	skin	malignant_melanoma	Substitution - coding silent
c.4175C>T; p.P1392L; 3:133601383-133601383	skin; trunk	malignant_melanoma	Substitution - Missense
c.223C>A; p.L75M; 3:133656737-133656737	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.400C>A; p.L134I; 3:133655371-133655371	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.135C>T; p.G45G; 3:133656825-133656825	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.443T>G; p.M148R; 3:133655328-133655328	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1936G>A; p.E646K; 3:133639995-133639995	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1650T>C; p.V550V; 3:133643310-133643310	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2994G>A; p.V998V; 3:133620271-133620271	breast	carcinoma	Substitution - coding silent
c.339_342delTCTT; p.F113fs*4; 3:133655429-133655432	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2407C>G; p.Q803E; 3:133628586-133628586	breast	carcinoma	Substitution - Missense
c.2746G>A; p.A916T; 3:133623379-133623379	breast	carcinoma	Substitution - Missense
c.2044C>T; p.R682C; 3:133638091-133638091	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2044C>T; p.R682C; 3:133638091-133638091	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.373G>T; p.G125C; 3:133655398-133655398	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.785T>C; p.V262A; 3:133652506-133652506	pancreas	carcinoma	Substitution - Missense
c.4291C>T; p.R1431*; 3:133601267-133601267	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.413A>G; p.H138R; 3:133655358-133655358	breast	carcinoma	Substitution - Missense
c.531A>T; p.T177T; 3:133653475-133653475	skin	malignant_melanoma	Substitution - coding silent
c.3907G>T; p.V1303F; 3:133611009-133611009	skin	malignant_melanoma	Substitution - Missense
c.3332-1G>A; p.?; 3:133617327-133617327	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Unknown
c.924T>G; p.D308E; 3:133649848-133649848	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1158T>A; p.S386S; 3:133649468-133649468	liver	carcinoma	Substitution - coding silent
c.2411T>C; p.L804P; 3:133628582-133628582	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3448A>G; p.I1150V; 3:133617210-133617210	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2441C>T; p.A814V; 3:133628464-133628464	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3161A>C; p.E1054A; 3:133618383-133618383	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2145C>T; p.V715V; 3:133637990-133637990	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1543G>A; p.E515K; 3:133644064-133644064	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3178G>A; p.D1060N; 3:133618366-133618366	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4289A>G; p.K1430R; 3:133601269-133601269	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3880_3881insA; p.I1294fs*11; 3:133611035-133611036	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1125A>G; p.A375A; 3:133649501-133649501	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.932A>G; p.H311R; 3:133649840-133649840	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2384C>A; p.A795D; 3:133628609-133628609	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4257G>A; p.K1419K; 3:133601301-133601301	skin	malignant_melanoma	Substitution - coding silent
c.4257G>A; p.K1419K; 3:133601301-133601301	skin	malignant_melanoma	Substitution - coding silent
c.3184A>G; p.T1062A; 3:133618360-133618360	pancreas	carcinoma	Substitution - Missense
c.2738A>G; p.D913G; 3:133623387-133623387	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.665G>A; p.R222H; 3:133652626-133652626	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3894A>C; p.Q1298H; 3:133611022-133611022	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2966A>T; p.Q989L; 3:133620299-133620299	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2297G>A; p.S766N; 3:133628696-133628696	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1878A>C; p.L626F; 3:133640053-133640053	liver	carcinoma	Substitution - Missense
c.3373A>T; p.K1125*; 3:133617285-133617285	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1878A>C; p.L626F; 3:133640053-133640053	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1878A>C; p.L626F; 3:133640053-133640053	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.830T>C; p.I277T; 3:133649942-133649942	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1878A>C; p.L626F; 3:133640053-133640053	thyroid	other; neoplasm	Substitution - Missense
c.1878A>C; p.L626F; 3:133640053-133640053	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1878A>C; p.L626F; 3:133640053-133640053	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2991A>G; p.I997M; 3:133620274-133620274	liver	carcinoma	Substitution - Missense
c.1820A>G; p.H607R; 3:133640111-133640111	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4119C>T; p.N1373N; 3:133608580-133608580	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2607G>A; p.R869R; 3:133624112-133624112	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4146T>C; p.I1382I; 3:133608553-133608553	breast	carcinoma	Substitution - coding silent
c.1201G>T; p.E401*; 3:133649425-133649425	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1614G>C; p.L538F; 3:133643346-133643346	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3537_3538insA; p.Q1180fs*16; 3:133616886-133616887	oesophagus; lower_third	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2643T>G; p.I881M; 3:133624076-133624076	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3047C>T; p.S1016F; 3:133620218-133620218	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2096T>A; p.F699Y; 3:133638039-133638039	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3053C>T; p.T1018I; 3:133620212-133620212	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1511C>T; p.A504V; 3:133644096-133644096	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2552T>G; p.F851C; 3:133624167-133624167	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.543delT; p.F181fs*53; 3:133653463-133653463	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3020T>C; p.L1007P; 3:133620245-133620245	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1217_1218delAA; p.Q406fs*2; 3:133649408-133649409	breast	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.3229C>G; p.P1077A; 3:133618315-133618315	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3473delC; p.P1158fs*11; 3:133617185-133617185	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.154C>G; p.L52V; 3:133656806-133656806	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4156C>G; p.L1386V; 3:133608543-133608543	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1636C>T; p.L546F; 3:133643324-133643324	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.664C>T; p.R222C; 3:133652627-133652627	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1606C>G; p.Q536E; 3:133643354-133643354	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2864A>G; p.N955S; 3:133623144-133623144	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.665G>C; p.R222P; 3:133652626-133652626	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4256A>G; p.K1419R; 3:133601302-133601302	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2332G>T; p.E778*; 3:133628661-133628661	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1907A>G; p.E636G; 3:133640024-133640024	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1885G>A; p.V629I; 3:133640046-133640046	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1549G>A; p.E517K; 3:133644058-133644058	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.329G>A; p.C110Y; 3:133655442-133655442	skin	malignant_melanoma	Substitution - Missense
c.3618G>A; p.L1206L; 3:133612545-133612545	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1244-7C>T; p.?; 3:133644370-133644370	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.85C>G; p.L29V; 3:133657815-133657815	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2761C>T; p.R921W; 3:133623364-133623364	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2070C>T; p.V690V; 3:133638065-133638065	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1929A>T; p.R643S; 3:133640002-133640002	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3134A>G; p.D1045G; 3:133618410-133618410	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3507G>A; p.T1169T; 3:133616917-133616917	ovary	other; neoplasm	Substitution - coding silent
c.2845G>A; p.V949I; 3:133623163-133623163	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2448G>C; p.K816N; 3:133628457-133628457	skin	malignant_melanoma	Substitution - Missense
c.2869A>G; p.K957E; 3:133623139-133623139	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1723G>C; p.E575Q; 3:133643237-133643237	breast	carcinoma	Substitution - Missense
c.3076C>T; p.R1026C; 3:133620189-133620189	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1551A>G; p.E517E; 3:133644056-133644056	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1551A>G; p.E517E; 3:133644056-133644056	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2189C>T; p.S730L; 3:133637946-133637946	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1551A>G; p.E517E; 3:133644056-133644056	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1628C>T; p.S543L; 3:133643332-133643332	skin	malignant_melanoma	Substitution - Missense
c.2215T>C; p.F739L; 3:133637920-133637920	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1207C>T; p.L403L; 3:133649419-133649419	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3519T>G; p.T1173T; 3:133616905-133616905	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1114G>C; p.E372Q; 3:133649512-133649512	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1143G>A; p.K381K; 3:133649483-133649483	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3876A>C; p.K1292N; 3:133611040-133611040	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2587C>T; p.R863W; 3:133624132-133624132	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.489G>C; p.K163N; 3:133653517-133653517	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2587C>T; p.R863W; 3:133624132-133624132	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.4013G>T; p.G1338V; 3:133608686-133608686	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2217C>T; p.F739F; 3:133637918-133637918	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.2217C>T; p.F739F; 3:133637918-133637918	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.832T>C; p.Y278H; 3:133649940-133649940	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3520C>T; p.H1174Y; 3:133616904-133616904	breast	carcinoma	Substitution - Missense
c.2954A>C; p.Q985P; 3:133620311-133620311	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1151G>A; p.S384N; 3:133649475-133649475	breast	carcinoma	Substitution - Missense
c.4157T>A; p.L1386H; 3:133608542-133608542	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.711C>T; p.C237C; 3:133652580-133652580	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3684C>T; p.N1228N; 3:133612479-133612479	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.3684C>T; p.N1228N; 3:133612479-133612479	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1256C>T; p.T419M; 3:133644351-133644351	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2154C>T; p.S718S; 3:133637981-133637981	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.901C>T; p.R301C; 3:133649871-133649871	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1481A>G; p.K494R; 3:133644126-133644126	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3160G>C; p.E1054Q; 3:133618384-133618384	breast	carcinoma	Substitution - Missense
c.901C>T; p.R301C; 3:133649871-133649871	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1145A>G; p.N382S; 3:133649481-133649481	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1925A>T; p.K642M; 3:133640006-133640006	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2590C>T; p.P864S; 3:133624129-133624129	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.662-2A>G; p.?; 3:133652631-133652631	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2097T>C; p.F699F; 3:133638038-133638038	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2097T>C; p.F699F; 3:133638038-133638038	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1737C>G; p.F579L; 3:133643223-133643223	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2097T>C; p.F699F; 3:133638038-133638038	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2090A>G; p.N697S; 3:133638045-133638045	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2097T>C; p.F699F; 3:133638038-133638038	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2637A>G; p.V879V; 3:133624082-133624082	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.4255A>G; p.K1419E; 3:133601303-133601303	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.438G>A; p.L146L; 3:133655333-133655333	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2340T>G; p.I780M; 3:133628653-133628653	liver	carcinoma	Substitution - Missense
c.3374A>C; p.K1125T; 3:133617284-133617284	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1883C>T; p.A628V; 3:133640048-133640048	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3976C>T; p.R1326C; 3:133608899-133608899	liver	carcinoma	Substitution - Missense
c.2534C>T; p.A845V; 3:133628371-133628371	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2915G>C; p.G972A; 3:133623093-133623093	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2189C>A; p.S730*; 3:133637946-133637946	breast	carcinoma	Substitution - Nonsense
c.766A>C; p.N256H; 3:133652525-133652525	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.343G>C; p.G115R; 3:133655428-133655428	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.343G>C; p.G115R; 3:133655428-133655428	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.224T>A; p.L75Q; 3:133656736-133656736	pancreas	carcinoma	Substitution - Missense
c.1842T>C; p.G614G; 3:133640089-133640089	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.466G>A; p.V156M; 3:133655305-133655305	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.3301C>G; p.P1101A; 3:133618243-133618243	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.826C>T; p.R276W; 3:133652465-133652465	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.901delC; p.R301fs*5; 3:133649871-133649871	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.1490C>T; p.S497F; 3:133644117-133644117	lung	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]