Entrez Gene

Basic Information
Gene ID	55704
Name	CCDC88A
Synonymous	coiled-coil domain containing 88A;CCDC88A;coiled-coil domain containing 88A
Definition	AKT-phosphorylation enhancer\|Hook-related protein 1\|g alpha-interacting vesicle-associated protein\|girders of actin filament\|girders of actin filaments\|girdin
Position	2p16.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.3527C>A; p.S1176Y; 2:55317639-55317639	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4672G>A; p.A1558T; 2:55299908-55299908	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2170C>T; p.Q724*; 2:55334651-55334651	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2160G>T; p.M720I; 2:55334661-55334661	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3090G>T; p.W1030C; 2:55322600-55322600	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5481A>G; p.V1827V; 2:55291762-55291762	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3191C>T; p.A1064V; 2:55318976-55318976	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1377A>C; p.S459S; 2:55339605-55339605	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.5224G>A; p.A1742T; 2:55295840-55295840	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2292A>C; p.E764D; 2:55334529-55334529	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3246G>T; p.Q1082H; 2:55318921-55318921	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2408T>A; p.L803Q; 2:55334413-55334413	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.167A>G; p.N56S; 2:55388884-55388884	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5233C>A; p.P1745T; 2:55295831-55295831	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.992G>C; p.R331T; 2:55346224-55346224	NS	NS	Substitution - Missense
c.4108A>G; p.K1370E; 2:55309226-55309226	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4637C>A; p.S1546Y; 2:55301229-55301229	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4854G>A; p.L1618L; 2:55296411-55296411	pancreas	carcinoma	Substitution - coding silent
c.2322C>G; p.N774K; 2:55334499-55334499	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4200G>A; p.M1400I; 2:55308996-55308996	breast	carcinoma	Substitution - Missense
c.1937A>G; p.K646R; 2:55334884-55334884	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1198A>G; p.M400V; 2:55343783-55343783	breast	carcinoma	Substitution - Missense
c.3412G>A; p.E1138K; 2:55317754-55317754	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4488A>G; p.R1496R; 2:55301972-55301972	pancreas	carcinoma	Substitution - coding silent
c.853G>A; p.E285K; 2:55349547-55349547	skin; neck	malignant_melanoma	Substitution - Missense
c.4145A>C; p.K1382T; 2:55309189-55309189	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.415G>A; p.E139K; 2:55364021-55364021	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.946C>T; p.R316*; 2:55346270-55346270	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1479C>T; p.I493I; 2:55339503-55339503	skin	malignant_melanoma	Substitution - coding silent
c.634A>G; p.I212V; 2:55355745-55355745	liver	carcinoma	Substitution - Missense
c.5431C>G; p.P1811A; 2:55295633-55295633	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.634A>G; p.I212V; 2:55355745-55355745	liver	carcinoma	Substitution - Missense
c.3337A>G; p.T1113A; 2:55317829-55317829	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.4688G>C; p.G1563A; 2:55299892-55299892	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3546A>G; p.G1182G; 2:55317620-55317620	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1438C>T; p.R480W; 2:55339544-55339544	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.907C>T; p.R303C; 2:55346309-55346309	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1560T>C; p.S520S; 2:55336777-55336777	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.907C>T; p.R303C; 2:55346309-55346309	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1425C>T; p.T475T; 2:55339557-55339557	skin	malignant_melanoma	Substitution - coding silent
c.5191C>T; p.R1731*; 2:55295873-55295873	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1047A>T; p.L349F; 2:55344509-55344509	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3899A>G; p.D1300G; 2:55315962-55315962	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.899C>T; p.S300L; 2:55346317-55346317	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3899A>G; p.D1300G; 2:55315962-55315962	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5119G>C; p.V1707L; 2:55295945-55295945	breast	carcinoma	Substitution - Missense
c.4915C>T; p.R1639*; 2:55296350-55296350	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1631C>T; p.T544I; 2:55336706-55336706	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1631C>T; p.T544I; 2:55336706-55336706	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3044G>T; p.R1015M; 2:55322646-55322646	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3664G>T; p.E1222*; 2:55317288-55317288	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3283G>A; p.E1095K; 2:55318884-55318884	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2572A>T; p.K858*; 2:55334249-55334249	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1863A>C; p.K621N; 2:55334958-55334958	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2113G>A; p.E705K; 2:55334708-55334708	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5391G>C; p.L1797F; 2:55295673-55295673	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1979C>T; p.A660V; 2:55334842-55334842	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1591C>G; p.L531V; 2:55336746-55336746	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3145A>T; p.I1049F; 2:55322545-55322545	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5038G>C; p.D1680H; 2:55296026-55296026	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.4882C>T; p.L1628F; 2:55296383-55296383	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.814G>A; p.E272K; 2:55349586-55349586	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3582A>G; p.E1194E; 2:55317584-55317584	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3454C>T; p.L1152F; 2:55317712-55317712	skin	malignant_melanoma	Substitution - Missense
c.78A>G; p.G26G; 2:55418902-55418902	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.566T>C; p.L189P; 2:55362369-55362369	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.566T>C; p.L189P; 2:55362369-55362369	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.566T>C; p.L189P; 2:55362369-55362369	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.616G>A; p.E206K; 2:55362319-55362319	skin; trunk	malignant_melanoma	Substitution - Missense
c.566T>C; p.L189P; 2:55362369-55362369	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2736G>T; p.V912V; 2:55332685-55332685	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4630G>A; p.D1544N; 2:55301236-55301236	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.566T>C; p.L189P; 2:55362369-55362369	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4138C>T; p.Q1380*; 2:55309196-55309196	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.382T>G; p.L128V; 2:55372472-55372472	breast	carcinoma	Substitution - Missense
c.1436T>C; p.L479P; 2:55339546-55339546	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1300G>C; p.E434Q; 2:55343681-55343681	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2723G>A; p.R908H; 2:55334098-55334098	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.4012A>G; p.N1338D; 2:55312501-55312501	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5309C>T; p.P1770L; 2:55295755-55295755	skin	malignant_melanoma	Substitution - Missense
c.1707C>T; p.S569S; 2:55335114-55335114	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1707C>T; p.S569S; 2:55335114-55335114	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.4234C>T; p.R1412W; 2:55308962-55308962	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3748C>T; p.L1250L; 2:55316113-55316113	skin	malignant_melanoma	Substitution - coding silent
c.3094C>T; p.R1032*; 2:55322596-55322596	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4699A>G; p.T1567A; 2:55299881-55299881	liver	carcinoma	Substitution - Missense
c.913G>A; p.A305T; 2:55346303-55346303	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1634_1635delTG; p.L545fs*9; 2:55336702-55336703	breast	carcinoma	Deletion - Frameshift
c.4791A>C; p.E1597D; 2:55296474-55296474	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1039G>A; p.E347K; 2:55346177-55346177	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2011G>T; p.E671*; 2:55334810-55334810	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2233A>C; p.K745Q; 2:55334588-55334588	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.4113G>T; p.E1371D; 2:55309221-55309221	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4319A>C; p.Q1440P; 2:55308877-55308877	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2982C>T; p.R994R; 2:55328309-55328309	skin	malignant_melanoma	Substitution - coding silent
c.4319A>C; p.Q1440P; 2:55308877-55308877	liver	carcinoma	Substitution - Missense
c.496A>G; p.N166D; 2:55362439-55362439	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1135G>A; p.E379K; 2:55344421-55344421	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1112G>A; p.R371H; 2:55344444-55344444	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.36G>C; p.Q12H; 2:55419044-55419044	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3967G>C; p.E1323Q; 2:55312546-55312546	breast	carcinoma	Substitution - Missense
c.675C>A; p.P225P; 2:55355704-55355704	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2958C>G; p.S986S; 2:55328333-55328333	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.255G>C; p.Q85H; 2:55388796-55388796	breast	carcinoma	Substitution - Missense
c.2257C>T; p.R753C; 2:55334564-55334564	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.334C>T; p.P112S; 2:55374823-55374823	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.4432A>G; p.T1478A; 2:55302028-55302028	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.344-9C>T; p.?; 2:55372519-55372519	stomach	carcinoma; adenocarcinoma	Unknown
c.5276C>T; p.S1759F; 2:55295788-55295788	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3940A>T; p.S1314C; 2:55312573-55312573	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3241G>A; p.A1081T; 2:55318926-55318926	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2722C>T; p.R908C; 2:55334099-55334099	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2098G>A; p.D700N; 2:55334723-55334723	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.454A>G; p.T152A; 2:55363982-55363982	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1780G>T; p.E594*; 2:55335041-55335041	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1325T>A; p.L442H; 2:55343656-55343656	ovary	other; neoplasm	Substitution - Missense
c.1774C>A; p.L592I; 2:55335047-55335047	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1774C>A; p.L592I; 2:55335047-55335047	breast	carcinoma	Substitution - Missense
c.2981G>A; p.R994H; 2:55328310-55328310	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2598C>A; p.N866K; 2:55334223-55334223	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.1149G>T; p.E383D; 2:55344407-55344407	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3054G>C; p.Q1018H; 2:55322636-55322636	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1706C>T; p.S569F; 2:55335115-55335115	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.857T>C; p.I286T; 2:55349543-55349543	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.99G>T; p.G33G; 2:55418881-55418881	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1706C>T; p.S569F; 2:55335115-55335115	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1825G>C; p.E609Q; 2:55334996-55334996	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2524C>T; p.R842*; 2:55334297-55334297	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1825G>C; p.E609Q; 2:55334996-55334996	breast	carcinoma	Substitution - Missense
c.88G>A; p.A30T; 2:55418892-55418892	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2056A>G; p.T686A; 2:55334765-55334765	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3307_3308delCA; p.Q1103fs*7; 2:55318859-55318860	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4643C>T; p.T1548M; 2:55301223-55301223	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1508T>A; p.L503H; 2:55339474-55339474	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5242G>A; p.G1748S; 2:55295822-55295822	skin	malignant_melanoma	Substitution - Missense
c.4918C>T; p.H1640Y; 2:55296347-55296347	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3348C>T; p.S1116S; 2:55317818-55317818	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2926A>T; p.I976F; 2:55328365-55328365	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.43A>G; p.T15A; 2:55419037-55419037	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5234C>T; p.P1745L; 2:55295830-55295830	skin	malignant_melanoma	Substitution - Missense
c.493C>G; p.H165D; 2:55362442-55362442	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3095G>A; p.R1032Q; 2:55322595-55322595	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.546G>A; p.S182S; 2:55362389-55362389	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1329C>A; p.S443S; 2:55343652-55343652	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.1792G>T; p.E598*; 2:55335029-55335029	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3529C>A; p.L1177I; 2:55317637-55317637	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2626T>C; p.Y876H; 2:55334195-55334195	breast	carcinoma	Substitution - Missense
c.4655T>C; p.V1552A; 2:55301211-55301211	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2396A>C; p.N799T; 2:55334425-55334425	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4226A>G; p.D1409G; 2:55308970-55308970	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4226A>G; p.D1409G; 2:55308970-55308970	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.112delG; p.E38fs*11; 2:55418868-55418868	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.4226A>G; p.D1409G; 2:55308970-55308970	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4226A>G; p.D1409G; 2:55308970-55308970	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2644C>T; p.R882C; 2:55334177-55334177	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2296C>G; p.Q766E; 2:55334525-55334525	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5281C>T; p.L1761L; 2:55295783-55295783	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4795A>G; p.S1599G; 2:55296470-55296470	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.962G>C; p.R321T; 2:55346254-55346254	breast	carcinoma	Substitution - Missense
c.370C>A; p.L124M; 2:55372484-55372484	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.3228C>T; p.N1076N; 2:55318939-55318939	breast	carcinoma	Substitution - coding silent
c.369delA; p.K123fs*26; 2:55372485-55372485	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4225G>T; p.D1409Y; 2:55308971-55308971	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3356C>A; p.T1119N; 2:55317810-55317810	central_nervous_system; brain	glioma	Substitution - Missense
c.1990G>A; p.E664K; 2:55334831-55334831	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4051C>A; p.L1351I; 2:55312462-55312462	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2335_2336insA; p.I779fs*7; 2:55334485-55334486	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3110C>T; p.T1037M; 2:55322580-55322580	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5226G>A; p.A1742A; 2:55295838-55295838	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.341C>T; p.S114F; 2:55374816-55374816	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1657-1G>C; p.?; 2:55335165-55335165	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.979A>G; p.S327G; 2:55346237-55346237	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4473A>C; p.S1491S; 2:55301987-55301987	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.277A>T; p.T93S; 2:55374880-55374880	skin	malignant_melanoma	Substitution - Missense
c.2997+1G>T; p.?; 2:55328293-55328293	lung	carcinoma; adenocarcinoma	Unknown
c.1073A>C; p.E358A; 2:55344483-55344483	liver	carcinoma	Substitution - Missense
c.3401C>T; p.S1134F; 2:55317765-55317765	skin	malignant_melanoma	Substitution - Missense
c.451G>C; p.D151H; 2:55363985-55363985	breast	carcinoma	Substitution - Missense
c.873G>A; p.L291L; 2:55349527-55349527	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4664C>G; p.S1555*; 2:55299916-55299916	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2944C>T; p.R982*; 2:55328347-55328347	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2944C>T; p.R982*; 2:55328347-55328347	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.233A>G; p.N78S; 2:55388818-55388818	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4769C>T; p.P1590L; 2:55296496-55296496	pancreas	carcinoma	Substitution - Missense
c.659G>A; p.G220D; 2:55355720-55355720	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4769C>T; p.P1590L; 2:55296496-55296496	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.575_576insA; p.N192fs*12; 2:55362359-55362360	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.249G>A; p.V83V; 2:55388802-55388802	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2757A>G; p.Q919Q; 2:55332664-55332664	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.749C>G; p.S250W; 2:55355630-55355630	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2032A>G; p.T678A; 2:55334789-55334789	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3603-9delT; p.?; 2:55317358-55317358	stomach	adenocarcinoma	Unknown
c.539A>G; p.D180G; 2:55362396-55362396	breast	carcinoma	Substitution - Missense
c.3647A>G; p.E1216G; 2:55317305-55317305	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3082A>G; p.N1028D; 2:55322608-55322608	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3603-9delT; p.?; 2:55317358-55317358	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.358G>T; p.E120*; 2:55372496-55372496	breast	carcinoma	Substitution - Nonsense
c.725G>A; p.R242Q; 2:55355654-55355654	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4148T>G; p.F1383C; 2:55309186-55309186	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.900G>T; p.S300S; 2:55346316-55346316	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2240C>T; p.S747F; 2:55334581-55334581	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5222C>A; p.S1741Y; 2:55295842-55295842	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.85G>A; p.A29T; 2:55418895-55418895	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5222C>A; p.S1741Y; 2:55295842-55295842	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3445C>T; p.L1149L; 2:55317721-55317721	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2768A>G; p.N923S; 2:55332653-55332653	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4558T>A; p.F1520I; 2:55301902-55301902	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2214G>T; p.K738N; 2:55334607-55334607	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2597A>G; p.N866S; 2:55334224-55334224	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3584A>G; p.H1195R; 2:55317582-55317582	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4292T>G; p.F1431C; 2:55308904-55308904	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1859A>G; p.Y620C; 2:55334962-55334962	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4359C>T; p.G1453G; 2:55308837-55308837	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5468A>G; p.N1823S; 2:55291775-55291775	pancreas	other; cystic_tumour	Substitution - Missense
c.1143A>G; p.E381E; 2:55344413-55344413	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - coding silent
c.3044G>A; p.R1015K; 2:55322646-55322646	skin	malignant_melanoma	Substitution - Missense
c.1111C>T; p.R371C; 2:55344445-55344445	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6G>A; p.E2E; 2:55419074-55419074	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1199T>C; p.M400T; 2:55343782-55343782	breast	carcinoma	Substitution - Missense
c.2775C>T; p.L925L; 2:55332646-55332646	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1204A>G; p.R402G; 2:55343777-55343777	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4160C>G; p.S1387C; 2:55309174-55309174	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5170G>T; p.E1724*; 2:55295894-55295894	skin; upper_leg	malignant_melanoma	Substitution - Nonsense
c.2313T>G; p.T771T; 2:55334508-55334508	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1626A>G; p.I542M; 2:55336711-55336711	pancreas	carcinoma	Substitution - Missense
c.2374G>A; p.E792K; 2:55334447-55334447	urinary_tract; bladder	carcinoma	Substitution - Missense
c.746T>C; p.L249P; 2:55355633-55355633	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5420T>G; p.V1807G; 2:55295644-55295644	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.23C>T; p.P8L; 2:55419057-55419057	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3567A>G; p.K1189K; 2:55317599-55317599	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2165A>G; p.Q722R; 2:55334656-55334656	large_intestine; colon	carcinoma	Substitution - Missense
c.3008_3009insA; p.N1003fs*3; 2:55322681-55322682	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3601C>T; p.R1201C; 2:55317565-55317565	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3601C>T; p.R1201C; 2:55317565-55317565	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2165A>G; p.Q722R; 2:55334656-55334656	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3567A>G; p.K1189K; 2:55317599-55317599	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.142T>C; p.L48L; 2:55418838-55418838	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.464C>T; p.A155V; 2:55363972-55363972	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1329C>T; p.S443S; 2:55343652-55343652	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1155_1156insA; p.Q386fs*5; 2:55344400-55344401	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Insertion - Frameshift
c.4946G>A; p.G1649E; 2:55296319-55296319	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2924A>C; p.K975T; 2:55328367-55328367	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5338G>A; p.V1780M; 2:55295726-55295726	thyroid	carcinoma	Substitution - Missense
c.2032_2033insA; p.T678fs*4; 2:55334788-55334789	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Insertion - Frameshift
c.780A>T; p.I260I; 2:55355599-55355599	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.841C>G; p.L281V; 2:55349559-55349559	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4761A>C; p.Q1587H; 2:55296504-55296504	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3506G>A; p.R1169H; 2:55317660-55317660	liver	carcinoma	Substitution - Missense
c.923A>G; p.Y308C; 2:55346293-55346293	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3506G>A; p.R1169H; 2:55317660-55317660	skin	malignant_melanoma	Substitution - Missense
c.2806G>A; p.G936R; 2:55332615-55332615	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.3506G>A; p.R1169H; 2:55317660-55317660	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2014A>C; p.N672H; 2:55334807-55334807	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3506G>A; p.R1169H; 2:55317660-55317660	skin	malignant_melanoma	Substitution - Missense
c.136delG; p.V46fs*3; 2:55418844-55418844	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3506G>A; p.R1169H; 2:55317660-55317660	liver	carcinoma	Substitution - Missense
c.1876C>T; p.R626*; 2:55334945-55334945	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1459G>C; p.E487Q; 2:55339523-55339523	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2760G>T; p.Q920H; 2:55332661-55332661	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2390A>G; p.Q797R; 2:55334431-55334431	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2467G>T; p.E823*; 2:55334354-55334354	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1319G>C; p.S440T; 2:55343662-55343662	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5302A>T; p.S1768C; 2:55295762-55295762	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.4826G>A; p.S1609N; 2:55296439-55296439	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3973C>T; p.R1325W; 2:55312540-55312540	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5387T>C; p.F1796S; 2:55295677-55295677	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2614G>A; p.E872K; 2:55334207-55334207	skin	malignant_melanoma	Substitution - Missense
c.2119C>T; p.R707*; 2:55334702-55334702	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2119C>T; p.R707*; 2:55334702-55334702	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5225C>T; p.A1742V; 2:55295839-55295839	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4544A>C; p.N1515T; 2:55301916-55301916	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1509C>G; p.L503L; 2:55339473-55339473	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.665A>G; p.H222R; 2:55355714-55355714	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4527C>T; p.I1509I; 2:55301933-55301933	liver	carcinoma	Substitution - coding silent
c.1846G>T; p.E616*; 2:55334975-55334975	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.427G>A; p.E143K; 2:55364009-55364009	breast	carcinoma	Substitution - Missense
c.2980C>T; p.R994C; 2:55328311-55328311	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4810C>A; p.H1604N; 2:55296455-55296455	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2593G>A; p.E865K; 2:55334228-55334228	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.966C>T; p.V322V; 2:55346250-55346250	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2335delA; p.I779fs*4; 2:55334486-55334486	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.745C>G; p.L249V; 2:55355634-55355634	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2821C>T; p.R941*; 2:55332600-55332600	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2135C>A; p.S712Y; 2:55334686-55334686	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1579T>C; p.L527L; 2:55336758-55336758	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3353G>A; p.S1118N; 2:55317813-55317813	ovary	other; neoplasm	Substitution - Missense
c.4185G>T; p.W1395C; 2:55309011-55309011	pancreas	carcinoma	Substitution - Missense
c.3353G>A; p.S1118N; 2:55317813-55317813	ovary	other; neoplasm	Substitution - Missense
c.3008A>G; p.N1003S; 2:55322682-55322682	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.791G>C; p.R264T; 2:55355588-55355588	prostate	carcinoma	Substitution - Missense
c.1056C>T; p.D352D; 2:55344500-55344500	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.335C>T; p.P112L; 2:55374822-55374822	skin	malignant_melanoma	Substitution - Missense
c.1501C>T; p.Q501*; 2:55339481-55339481	skin	malignant_melanoma	Substitution - Nonsense
c.2120G>A; p.R707Q; 2:55334701-55334701	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2120G>A; p.R707Q; 2:55334701-55334701	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.5259A>G; p.I1753M; 2:55295805-55295805	prostate	carcinoma	Substitution - Missense
c.880G>A; p.E294K; 2:55349520-55349520	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4921C>T; p.H1641Y; 2:55296344-55296344	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3051A>G; p.V1017V; 2:55322639-55322639	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.676C>T; p.H226Y; 2:55355703-55355703	central_nervous_system; brain	glioma	Substitution - Missense
c.5510C>A; p.S1837Y; 2:55291733-55291733	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1023T>G; p.F341L; 2:55346193-55346193	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5175T>G; p.F1725L; 2:55295889-55295889	breast	carcinoma	Substitution - Missense
c.1421A>C; p.K474T; 2:55339561-55339561	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4809C>T; p.D1603D; 2:55296456-55296456	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2177A>G; p.E726G; 2:55334644-55334644	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4377G>C; p.K1459N; 2:55308819-55308819	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3652_3653insA; p.M1218fs*12; 2:55317299-55317300	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1016T>C; p.I339T; 2:55346200-55346200	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2709G>A; p.T903T; 2:55334112-55334112	stomach	carcinoma; adenocarcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]