Entrez Gene

Basic Information
Gene ID	19
Name	ABCA1
Synonymous	ATP-binding cassette, sub-family A (ABC1), member 1;ABCA1;ATP-binding cassette, sub-family A (ABC1), member 1
Definition	ATP-binding cassette sub-family A member 1\|ATP-binding cassette transporter A1\|cholesterol efflux regulatory protein\|membrane-bound
Position	9q31.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.4843C>T; p.R1615W; 9:104799919-104799919	thyroid	carcinoma	Substitution - Missense
c.6035T>C; p.L2012P; 9:104788460-104788460	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2842G>A; p.G948R; 9:104821493-104821493	bone; humerus	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1795G>T; p.V599L; 9:104831022-104831022	central_nervous_system; brain	glioma	Substitution - Missense
c.3734A>G; p.E1245G; 9:104816147-104816147	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1775delG; p.G592fs*17; 9:104831042-104831042	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.4566G>A; p.K1522K; 9:104803310-104803310	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.743C>T; p.P248L; 9:104845547-104845547	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1003G>T; p.G335*; 9:104840330-104840330	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.6132C>T; p.N2044N; 9:104787992-104787992	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3304G>A; p.A1102T; 9:104818821-104818821	large_intestine; colon	carcinoma	Substitution - Missense
c.2869G>A; p.A957T; 9:104821466-104821466	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3304G>A; p.A1102T; 9:104818821-104818821	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4146G>T; p.W1382C; 9:104810829-104810829	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4221C>T; p.A1407A; 9:104809519-104809519	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3187G>A; p.V1063M; 9:104819640-104819640	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3395delA; p.K1132fs*21; 9:104818730-104818730	breast	carcinoma	Deletion - Frameshift
c.2575C>T; p.P859S; 9:104824546-104824546	skin	malignant_melanoma	Substitution - Missense
c.864G>T; p.L288L; 9:104840469-104840469	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1380C>T; p.A460A; 9:104832703-104832703	skin	malignant_melanoma	Substitution - coding silent
c.3029C>T; p.A1010V; 9:104820001-104820001	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1780G>A; p.A594T; 9:104831037-104831037	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2993C>T; p.A998V; 9:104820037-104820037	prostate	carcinoma	Substitution - Missense
c.6590G>A; p.S2197N; 9:104785451-104785451	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6590G>A; p.S2197N; 9:104785451-104785451	large_intestine; colon	carcinoma	Substitution - Missense
c.6590G>A; p.S2197N; 9:104785451-104785451	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.265G>A; p.E89K; 9:104884464-104884464	skin	malignant_melanoma	Substitution - Missense
c.5511G>A; p.E1837E; 9:104793296-104793296	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4896C>T; p.F1632F; 9:104799866-104799866	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.5353A>C; p.T1785P; 9:104796082-104796082	breast	carcinoma	Substitution - Missense
c.2456T>C; p.F819S; 9:104825769-104825769	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4896C>T; p.F1632F; 9:104799866-104799866	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.5691G>A; p.R1897R; 9:104792852-104792852	skin	malignant_melanoma	Substitution - coding silent
c.1248G>A; p.W416*; 9:104837043-104837043	skin	malignant_melanoma	Substitution - Nonsense
c.1248G>A; p.W416*; 9:104837043-104837043	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1220C>A; p.A407D; 9:104837071-104837071	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.5100C>G; p.L1700L; 9:104798442-104798442	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.629A>G; p.E210G; 9:104858613-104858613	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6128G>A; p.G2043D; 9:104787996-104787996	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.629A>G; p.E210G; 9:104858613-104858613	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3245G>A; p.R1082H; 9:104818880-104818880	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.408G>T; p.K136N; 9:104883052-104883052	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1393G>A; p.A465T; 9:104832690-104832690	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3245G>A; p.R1082H; 9:104818880-104818880	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5690G>A; p.R1897Q; 9:104792853-104792853	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2023G>C; p.G675R; 9:104829008-104829008	ovary	other; neoplasm	Substitution - Missense
c.2023G>C; p.G675R; 9:104829008-104829008	ovary	other; neoplasm	Substitution - Missense
c.4552G>A; p.A1518T; 9:104804633-104804633	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2725C>T; p.R909*; 9:104822599-104822599	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1097C>A; p.P366H; 9:104837525-104837525	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2971G>A; p.E991K; 9:104820059-104820059	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1765G>A; p.V589I; 9:104831052-104831052	pancreas	other; cystic_tumour	Substitution - Missense
c.4630G>C; p.A1544P; 9:104802122-104802122	skin; abdomen	malignant_melanoma	Substitution - Missense
c.79C>T; p.L27L; 9:104889183-104889183	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6478G>A; p.G2160R; 9:104785563-104785563	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.6325G>A; p.A2109T; 9:104786374-104786374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3099G>C; p.L1033L; 9:104819931-104819931	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.4545G>A; p.Q1515Q; 9:104804640-104804640	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4374C>T; p.N1458N; 9:104806331-104806331	skin	malignant_melanoma	Substitution - coding silent
c.3333T>A; p.C1111*; 9:104818792-104818792	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.944G>A; p.G315E; 9:104840389-104840389	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2649A>G; p.I883M; 9:104824472-104824472	prostate	adenoma	Substitution - Missense
c.4413G>T; p.K1471N; 9:104806292-104806292	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3879A>T; p.P1293P; 9:104814140-104814140	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4535C>T; p.T1512M; 9:104804650-104804650	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.391A>T; p.T131S; 9:104883069-104883069	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2649A>G; p.I883M; 9:104824472-104824472	thyroid	other; neoplasm	Substitution - Missense
c.1596C>A; p.F532L; 9:104831741-104831741	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4813T>G; p.F1605V; 9:104799949-104799949	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1158A>C; p.T386T; 9:104837464-104837464	liver	carcinoma	Substitution - coding silent
c.2819C>T; p.T940M; 9:104822505-104822505	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2438C>T; p.P813L; 9:104825787-104825787	skin	malignant_melanoma	Substitution - Missense
c.4202C>T; p.T1401I; 9:104809538-104809538	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3667C>T; p.H1223Y; 9:104816214-104816214	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5571C>T; p.A1857A; 9:104793236-104793236	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3667C>T; p.H1223Y; 9:104816214-104816214	skin	malignant_melanoma	Substitution - Missense
c.1785C>T; p.Y595Y; 9:104831032-104831032	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6693A>G; p.K2231K; 9:104784408-104784408	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6498T>C; p.S2166S; 9:104785543-104785543	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5440delT; p.C1814fs*10; 9:104794453-104794453	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3929G>T; p.G1310V; 9:104812695-104812695	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.254C>T; p.P85L; 9:104884475-104884475	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.6372C>A; p.C2124*; 9:104786327-104786327	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.254C>T; p.P85L; 9:104884475-104884475	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2259C>G; p.I753M; 9:104827026-104827026	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.169C>G; p.P57A; 9:104884560-104884560	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2494A>C; p.T832P; 9:104825731-104825731	breast	carcinoma	Substitution - Missense
c.4923G>A; p.Q1641Q; 9:104799839-104799839	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2040C>A; p.I680I; 9:104828991-104828991	prostate	adenoma	Substitution - coding silent
c.248G>A; p.R83H; 9:104884481-104884481	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1818G>T; p.R606S; 9:104830999-104830999	lung	carcinoma; undifferentiated_carcinoma	Substitution - Missense
c.248G>A; p.R83H; 9:104884481-104884481	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.248G>A; p.R83H; 9:104884481-104884481	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2220C>T; p.F740F; 9:104827065-104827065	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.248G>A; p.R83H; 9:104884481-104884481	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.389G>T; p.R130I; 9:104883071-104883071	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3741A>G; p.I1247M; 9:104814473-104814473	liver	carcinoma	Substitution - Missense
c.6277G>C; p.E2093Q; 9:104786904-104786904	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3377A>G; p.Y1126C; 9:104818748-104818748	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4637C>T; p.P1546L; 9:104802115-104802115	skin	malignant_melanoma	Substitution - Missense
c.4536G>A; p.T1512T; 9:104804649-104804649	large_intestine; colon	NS	Substitution - coding silent
c.2841C>T; p.T947T; 9:104821494-104821494	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5928T>C; p.S1976S; 9:104788567-104788567	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.688C>T; p.R230C; 9:104858554-104858554	breast	carcinoma	Substitution - Missense
c.3883G>T; p.D1295Y; 9:104814136-104814136	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2276T>G; p.L759R; 9:104827009-104827009	liver	carcinoma	Substitution - Missense
c.2276T>G; p.L759R; 9:104827009-104827009	liver	carcinoma	Substitution - Missense
c.6084G>A; p.A2028A; 9:104788040-104788040	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.5689C>T; p.R1897W; 9:104792854-104792854	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5689C>T; p.R1897W; 9:104792854-104792854	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5432C>T; p.P1811L; 9:104794461-104794461	central_nervous_system; thalamus	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.1194+1G>A; p.?; 9:104837427-104837427	lung	carcinoma; adenocarcinoma	Unknown
c.3503G>A; p.G1168D; 9:104817364-104817364	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3799C>T; p.P1267S; 9:104814220-104814220	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2389T>A; p.F797I; 9:104825836-104825836	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2651C>T; p.S884L; 9:104824470-104824470	skin	malignant_melanoma	Substitution - Missense
c.1328G>T; p.R443M; 9:104832755-104832755	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.377G>A; p.R126H; 9:104883083-104883083	central_nervous_system; brain	glioma	Substitution - Missense
c.1498C>T; p.R500C; 9:104832585-104832585	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1821G>T; p.V607V; 9:104830996-104830996	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.377G>A; p.R126H; 9:104883083-104883083	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2692G>C; p.G898R; 9:104822632-104822632	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.127C>T; p.R43W; 9:104889135-104889135	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4505G>A; p.G1502E; 9:104804680-104804680	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.927C>T; p.C309C; 9:104840406-104840406	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1428C>T; p.S476S; 9:104832655-104832655	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4559G>T; p.S1520I; 9:104804626-104804626	breast	carcinoma	Substitution - Missense
c.310C>T; p.R104C; 9:104883150-104883150	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.310C>T; p.R104C; 9:104883150-104883150	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3209G>T; p.G1070V; 9:104819618-104819618	skin	malignant_melanoma	Substitution - Missense
c.3756C>T; p.A1252A; 9:104814458-104814458	pancreas	carcinoma	Substitution - coding silent
c.471C>T; p.F157F; 9:104861751-104861751	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4909A>G; p.N1637D; 9:104799853-104799853	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6018C>T; p.H2006H; 9:104788477-104788477	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1508A>C; p.E503A; 9:104832575-104832575	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4760A>G; p.K1587R; 9:104800523-104800523	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4518G>A; p.S1506S; 9:104804667-104804667	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.940G>C; p.G314R; 9:104840393-104840393	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6089G>A; p.R2030Q; 9:104788035-104788035	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6575G>A; p.S2192N; 9:104785466-104785466	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3938G>T; p.G1313V; 9:104812686-104812686	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3757G>A; p.E1253K; 9:104814457-104814457	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4156G>C; p.E1386Q; 9:104810819-104810819	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.5342G>A; p.G1781D; 9:104796093-104796093	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6469G>C; p.D2157H; 9:104785572-104785572	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4804A>G; p.I1602V; 9:104799958-104799958	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.937G>A; p.E313K; 9:104840396-104840396	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1449C>T; p.T483T; 9:104832634-104832634	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.936C>T; p.P312P; 9:104840397-104840397	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.6402-3C>T; p.?; 9:104785642-104785642	parathyroid	carcinoma	Unknown
c.5724G>C; p.Q1908H; 9:104792819-104792819	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.474G>A; p.L158L; 9:104861748-104861748	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2608A>G; p.S870G; 9:104824513-104824513	liver	carcinoma	Substitution - Missense
c.2608A>G; p.S870G; 9:104824513-104824513	liver	carcinoma	Substitution - Missense
c.474G>A; p.L158L; 9:104861748-104861748	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.474G>A; p.L158L; 9:104861748-104861748	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5823C>T; p.C1941C; 9:104791026-104791026	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.474G>A; p.L158L; 9:104861748-104861748	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.634T>C; p.S212P; 9:104858608-104858608	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5346C>G; p.S1782R; 9:104796089-104796089	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5390A>C; p.N1797T; 9:104794503-104794503	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3584G>A; p.R1195Q; 9:104816297-104816297	skin; trunk	malignant_melanoma	Substitution - Missense
c.3067T>A; p.S1023T; 9:104819963-104819963	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1027G>A; p.A343T; 9:104840306-104840306	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1734T>C; p.P578P; 9:104831083-104831083	liver	carcinoma	Substitution - coding silent
c.5409G>T; p.L1803L; 9:104794484-104794484	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3629A>T; p.Y1210F; 9:104816252-104816252	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5506+5G>T; p.?; 9:104794382-104794382	liver	carcinoma	Unknown
c.5409G>T; p.L1803L; 9:104794484-104794484	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3130G>T; p.A1044S; 9:104819697-104819697	prostate	carcinoma	Substitution - Missense
c.3215G>A; p.W1072*; 9:104819612-104819612	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5614T>A; p.Y1872N; 9:104793193-104793193	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.951G>A; p.L317L; 9:104840382-104840382	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5506+5G>T; p.?; 9:104794382-104794382	liver	carcinoma	Unknown
c.1127A>G; p.K376R; 9:104837495-104837495	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4069T>C; p.F1357L; 9:104810906-104810906	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1672A>G; p.M558V; 9:104831665-104831665	liver	carcinoma	Substitution - Missense
c.1672A>G; p.M558V; 9:104831665-104831665	liver	carcinoma	Substitution - Missense
c.5283G>T; p.K1761N; 9:104796152-104796152	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.749C>T; p.P250L; 9:104845541-104845541	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6612A>C; p.E2204D; 9:104785429-104785429	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.650T>C; p.L217P; 9:104858592-104858592	pancreas	carcinoma	Substitution - Missense
c.2138G>A; p.S713N; 9:104827147-104827147	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.791G>T; p.S264I; 9:104845499-104845499	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6294G>A; p.V2098V; 9:104786887-104786887	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5383-4_5383-3insT; p.?; 9:104794513-104794514	thyroid	carcinoma; medullary_carcinoma	Unknown
c.3063G>C; p.L1021F; 9:104819967-104819967	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.6294G>A; p.V2098V; 9:104786887-104786887	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6041G>A; p.R2014K; 9:104788454-104788454	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3203G>A; p.R1068H; 9:104819624-104819624	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2135A>T; p.Y712F; 9:104827150-104827150	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2726G>A; p.R909Q; 9:104822598-104822598	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3203G>A; p.R1068H; 9:104819624-104819624	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4806C>T; p.I1602I; 9:104799956-104799956	breast	carcinoma	Substitution - coding silent
c.1373G>A; p.W458*; 9:104832710-104832710	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1086G>T; p.L362F; 9:104837536-104837536	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1540G>T; p.A514S; 9:104831797-104831797	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5969A>G; p.Y1990C; 9:104788526-104788526	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5383-2_5383-1insTT; p.?; 9:104794511-104794512	large_intestine	carcinoma; adenocarcinoma	Unknown
c.3071G>A; p.S1024N; 9:104819959-104819959	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.161-7T>G; p.?; 9:104884575-104884575	liver	carcinoma	Unknown
c.5383-2_5383-1insTT; p.?; 9:104794511-104794512	large_intestine	carcinoma; adenocarcinoma	Unknown
c.5383-2_5383-1insTT; p.?; 9:104794511-104794512	large_intestine	carcinoma; adenocarcinoma	Unknown
c.948delG; p.L317fs*1; 9:104840385-104840385	liver	carcinoma	Deletion - Frameshift
c.4318C>T; p.P1440S; 9:104806387-104806387	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1779C>T; p.F593F; 9:104831038-104831038	pancreas	NS	Substitution - coding silent
c.3571delG; p.V1191fs*10; 9:104816310-104816310	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.597A>C; p.K199N; 9:104858645-104858645	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5575delG; p.E1859fs*11; 9:104793232-104793232	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3726G>A; p.T1242T; 9:104816155-104816155	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.6532delT; p.Y2178fs*26; 9:104785509-104785509	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.3696G>C; p.L1232L; 9:104816185-104816185	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4465-5G>A; p.?; 9:104804725-104804725	liver	carcinoma	Unknown
c.3341C>T; p.S1114F; 9:104818784-104818784	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6337A>G; p.R2113G; 9:104786362-104786362	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6694G>T; p.D2232Y; 9:104784407-104784407	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2267C>G; p.T756R; 9:104827018-104827018	liver	carcinoma	Substitution - Missense
c.6654G>T; p.V2218V; 9:104784447-104784447	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2267C>G; p.T756R; 9:104827018-104827018	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.6599G>A; p.R2200Q; 9:104785442-104785442	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3242-3C>T; p.?; 9:104818886-104818886	prostate	carcinoma	Unknown
c.2070C>T; p.L690L; 9:104828961-104828961	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.4457C>T; p.P1486L; 9:104806248-104806248	breast	carcinoma	Substitution - Missense
c.6741C>T; p.L2247L; 9:104784360-104784360	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4272C>T; p.I1424I; 9:104809468-104809468	liver	carcinoma	Substitution - coding silent
c.4272C>T; p.I1424I; 9:104809468-104809468	liver	carcinoma	Substitution - coding silent
c.4272C>T; p.I1424I; 9:104809468-104809468	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4083C>G; p.A1361A; 9:104810892-104810892	liver	carcinoma	Substitution - coding silent
c.5367G>T; p.E1789D; 9:104796068-104796068	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4083C>G; p.A1361A; 9:104810892-104810892	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2244C>T; p.A748A; 9:104827041-104827041	skin	malignant_melanoma	Substitution - coding silent
c.630A>G; p.E210E; 9:104858612-104858612	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.721-1G>A; p.?; 9:104845570-104845570	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1743C>A; p.D581E; 9:104831074-104831074	bone; femur	chondrosarcoma	Substitution - Missense
c.2471C>T; p.S824L; 9:104825754-104825754	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2471C>T; p.S824L; 9:104825754-104825754	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2471C>T; p.S824L; 9:104825754-104825754	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1247G>A; p.W416*; 9:104837044-104837044	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Nonsense
c.2471C>T; p.S824L; 9:104825754-104825754	urinary_tract; bladder	carcinoma	Substitution - Missense
c.469T>C; p.F157L; 9:104861753-104861753	skin	malignant_melanoma	Substitution - Missense
c.2871C>A; p.A957A; 9:104821464-104821464	kidney	other; neoplasm	Substitution - coding silent
c.1713T>C; p.D571D; 9:104831624-104831624	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5383-3delT; p.?; 9:104794513-104794513	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_III	Unknown
c.6505A>C; p.K2169Q; 9:104785536-104785536	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3185G>A; p.G1062D; 9:104819642-104819642	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2996G>A; p.R999H; 9:104820034-104820034	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2996G>A; p.R999H; 9:104820034-104820034	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.656G>A; p.R219K; 9:104858586-104858586	skin	malignant_melanoma	Substitution - Missense
c.5064G>T; p.Q1688H; 9:104798478-104798478	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.656G>A; p.R219K; 9:104858586-104858586	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.656G>A; p.R219K; 9:104858586-104858586	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5266G>T; p.A1756S; 9:104796169-104796169	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4117A>G; p.K1373E; 9:104810858-104810858	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.656G>A; p.R219K; 9:104858586-104858586	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.275G>A; p.G92E; 9:104884454-104884454	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.656G>A; p.R219K; 9:104858586-104858586	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.656G>A; p.R219K; 9:104858586-104858586	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1769G>A; p.W590*; 9:104831048-104831048	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2705A>G; p.Q902R; 9:104822619-104822619	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4752G>A; p.L1584L; 9:104800531-104800531	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.5753C>T; p.T1918M; 9:104792790-104792790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2179G>T; p.V727L; 9:104827106-104827106	breast	carcinoma	Substitution - Missense
c.1632C>T; p.G544G; 9:104831705-104831705	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4904C>T; p.P1635L; 9:104799858-104799858	prostate	carcinoma	Substitution - Missense
c.4224C>T; p.L1408L; 9:104809516-104809516	kidney	other; neoplasm	Substitution - coding silent
c.1736G>T; p.R579L; 9:104831081-104831081	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3125C>T; p.S1042F; 9:104819702-104819702	skin	malignant_melanoma	Substitution - Missense
c.4464A>G; p.Q1488Q; 9:104806241-104806241	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2804A>G; p.N935S; 9:104822520-104822520	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.948G>C; p.G316G; 9:104840385-104840385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6118A>C; p.K2040Q; 9:104788006-104788006	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1384G>A; p.D462N; 9:104832699-104832699	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4022G>T; p.R1341I; 9:104812602-104812602	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4504G>A; p.G1502R; 9:104804681-104804681	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1984G>T; p.E662*; 9:104829047-104829047	liver	carcinoma	Substitution - Nonsense
c.5121+2T>C; p.?; 9:104798419-104798419	ovary	carcinoma; serous_carcinoma	Unknown
c.2751T>C; p.D917D; 9:104822573-104822573	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6620C>T; p.S2207F; 9:104785421-104785421	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.442C>T; p.L148L; 9:104861780-104861780	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2751T>C; p.D917D; 9:104822573-104822573	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2749G>T; p.D917Y; 9:104822575-104822575	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1984G>T; p.E662*; 9:104829047-104829047	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.5121+2T>C; p.?; 9:104798419-104798419	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.4892C>T; p.A1631V; 9:104799870-104799870	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5028G>C; p.L1676L; 9:104798514-104798514	liver	carcinoma	Substitution - coding silent
c.5028G>C; p.L1676L; 9:104798514-104798514	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.3762G>C; p.E1254D; 9:104814452-104814452	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.127C>G; p.R43G; 9:104889135-104889135	liver	carcinoma	Substitution - Missense
c.369G>A; p.K123K; 9:104883091-104883091	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4236T>G; p.P1412P; 9:104809504-104809504	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6083C>T; p.A2028V; 9:104788041-104788041	large_intestine; colon	NS	Substitution - Missense
c.2334C>T; p.F778F; 9:104826951-104826951	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1394C>T; p.A465V; 9:104832689-104832689	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1394C>T; p.A465V; 9:104832689-104832689	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.6575G>T; p.S2192I; 9:104785466-104785466	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.366G>T; p.M122I; 9:104883094-104883094	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.849G>A; p.Q283Q; 9:104840484-104840484	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4242C>T; p.F1414F; 9:104809498-104809498	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.271C>T; p.P91S; 9:104884458-104884458	skin	malignant_melanoma	Substitution - Missense
c.4639C>G; p.P1547A; 9:104802113-104802113	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1820T>G; p.V607G; 9:104830997-104830997	thyroid	other; neoplasm	Substitution - Missense
c.1820T>G; p.V607G; 9:104830997-104830997	breast	carcinoma	Substitution - Missense
c.6181G>A; p.G2061S; 9:104787943-104787943	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5383-3_5383-2insTTT; p.?; 9:104794512-104794513	breast	carcinoma	Unknown
c.3323A>T; p.K1108M; 9:104818802-104818802	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3435T>C; p.S1145S; 9:104818690-104818690	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3862G>T; p.D1288Y; 9:104814157-104814157	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4757_4758CC>GT; p.T1586S; 9:104800525-104800526	skin	malignant_melanoma	Substitution - Missense
c.6019G>A; p.V2007M; 9:104788476-104788476	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1080G>T; p.K360N; 9:104837542-104837542	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5284A>G; p.I1762V; 9:104796151-104796151	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.493C>T; p.P165S; 9:104861729-104861729	NS	malignant_melanoma	Substitution - Missense
c.4335C>G; p.I1445M; 9:104806370-104806370	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6444C>T; p.S2148S; 9:104785597-104785597	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1487G>A; p.R496Q; 9:104832596-104832596	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1487G>A; p.R496Q; 9:104832596-104832596	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4684C>A; p.L1562I; 9:104802068-104802068	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.806C>T; p.A269V; 9:104845484-104845484	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1390G>A; p.V464M; 9:104832693-104832693	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5383-2A>T; p.?; 9:104794512-104794512	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.5383-2A>T; p.?; 9:104794512-104794512	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.4231G>T; p.D1411Y; 9:104809509-104809509	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5383-2A>T; p.?; 9:104794512-104794512	lung	carcinoma; small_cell_carcinoma	Unknown
c.5383-2A>T; p.?; 9:104794512-104794512	kidney	other; neoplasm	Unknown
c.4317C>T; p.A1439A; 9:104806388-104806388	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1517A>T; p.N506I; 9:104831820-104831820	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5383-2_5383-1insTTT; p.?; 9:104794511-104794512	large_intestine	carcinoma; adenocarcinoma	Unknown
c.246C>T; p.F82F; 9:104884483-104884483	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4977C>T; p.I1659I; 9:104798565-104798565	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4854G>A; p.L1618L; 9:104799908-104799908	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.542A>T; p.K181M; 9:104861680-104861680	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5320A>G; p.N1774D; 9:104796115-104796115	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3417C>T; p.L1139L; 9:104818708-104818708	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.277G>T; p.V93F; 9:104884452-104884452	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4188T>C; p.P1396P; 9:104809552-104809552	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2066G>T; p.S689I; 9:104828965-104828965	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.56G>T; p.R19I; 9:104903624-104903624	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4433C>T; p.P1478L; 9:104806272-104806272	skin	malignant_melanoma	Substitution - Missense
c.1141G>T; p.G381W; 9:104837481-104837481	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4102G>C; p.V1368L; 9:104810873-104810873	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.5496G>T; p.L1832L; 9:104794397-104794397	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4823T>C; p.V1608A; 9:104799939-104799939	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2947G>A; p.V983M; 9:104821388-104821388	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.488C>T; p.S163F; 9:104861734-104861734	liver	carcinoma	Substitution - Missense
c.5773C>T; p.R1925W; 9:104791983-104791983	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1297A>T; p.M433L; 9:104836994-104836994	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2569T>C; p.Y857H; 9:104824552-104824552	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3512A>G; p.H1171R; 9:104817355-104817355	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.6010A>G; p.R2004G; 9:104788485-104788485	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2473G>A; p.V825I; 9:104825752-104825752	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.5153T>G; p.I1718S; 9:104796393-104796393	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.907G>A; p.A303T; 9:104840426-104840426	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5240G>T; p.W1747L; 9:104796195-104796195	breast	carcinoma	Substitution - Missense
c.2549A>G; p.Y850C; 9:104824572-104824572	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1703A>C; p.K568T; 9:104831634-104831634	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5820G>C; p.E1940D; 9:104791936-104791936	large_intestine; colon	NS	Substitution - Missense
c.3937G>T; p.G1313C; 9:104812687-104812687	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.306G>T; p.V102V; 9:104883154-104883154	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2227G>A; p.A743T; 9:104827058-104827058	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3619G>C; p.V1207L; 9:104816262-104816262	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4196delC; p.T1399fs*7; 9:104809544-104809544	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1846G>T; p.G616C; 9:104830971-104830971	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1690G>A; p.E564K; 9:104831647-104831647	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.630A>C; p.E210D; 9:104858612-104858612	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.948G>A; p.G316G; 9:104840385-104840385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.948G>A; p.G316G; 9:104840385-104840385	thyroid	other; neoplasm	Substitution - coding silent
c.2680C>A; p.H894N; 9:104822644-104822644	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.515T>C; p.M172T; 9:104861707-104861707	kidney	other; neoplasm	Substitution - Missense
c.1967T>A; p.I656N; 9:104829064-104829064	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.689G>A; p.R230H; 9:104858553-104858553	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.689G>A; p.R230H; 9:104858553-104858553	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4639C>T; p.P1547S; 9:104802113-104802113	skin	malignant_melanoma	Substitution - Missense
c.2974G>T; p.E992*; 9:104820056-104820056	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3201C>T; p.S1067S; 9:104819626-104819626	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.5562C>T; p.F1854F; 9:104793245-104793245	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6456G>A; p.L2152L; 9:104785585-104785585	breast	carcinoma	Substitution - coding silent
c.3068C>T; p.S1023L; 9:104819962-104819962	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2055G>A; p.W685*; 9:104828976-104828976	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.2235G>T; p.L745L; 9:104827050-104827050	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5516G>A; p.R1839H; 9:104793291-104793291	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4432C>T; p.P1478S; 9:104806273-104806273	skin	malignant_melanoma	Substitution - Missense
c.5516G>A; p.R1839H; 9:104793291-104793291	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4773+7C>T; p.?; 9:104800503-104800503	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.4929C>T; p.L1643L; 9:104799833-104799833	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5702G>T; p.R1901I; 9:104792841-104792841	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2026C>A; p.L676M; 9:104829005-104829005	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.6779A>G; p.Y2260C; 9:104784322-104784322	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.160T>A; p.C54S; 9:104889102-104889102	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.6746C>G; p.S2249C; 9:104784355-104784355	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1131G>A; p.P377P; 9:104837491-104837491	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.80T>A; p.L27Q; 9:104889182-104889182	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.380A>C; p.K127T; 9:104883080-104883080	breast	carcinoma	Substitution - Missense
c.5698C>A; p.Q1900K; 9:104792845-104792845	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2339G>A; p.S780N; 9:104825886-104825886	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.391A>G; p.T131A; 9:104883069-104883069	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2630G>C; p.G877A; 9:104824491-104824491	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1459G>A; p.A487T; 9:104832624-104832624	liver	carcinoma	Substitution - Missense
c.1459G>A; p.A487T; 9:104832624-104832624	liver	carcinoma	Substitution - Missense
c.844C>G; p.R282G; 9:104840489-104840489	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.5830C>A; p.L1944I; 9:104791019-104791019	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4566G>T; p.K1522N; 9:104803310-104803310	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2877C>T; p.I959I; 9:104821458-104821458	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2877C>T; p.I959I; 9:104821458-104821458	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.5416G>A; p.V1806M; 9:104794477-104794477	large_intestine; rectum	NS	Substitution - Missense
c.5057A>T; p.H1686L; 9:104798485-104798485	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5948A>C; p.E1983A; 9:104788547-104788547	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1936C>T; p.L646L; 9:104829095-104829095	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4219G>A; p.A1407T; 9:104809521-104809521	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4219G>A; p.A1407T; 9:104809521-104809521	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5563G>A; p.A1855T; 9:104793244-104793244	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4219G>A; p.A1407T; 9:104809521-104809521	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1764C>T; p.Y588Y; 9:104831053-104831053	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4219G>A; p.A1407T; 9:104809521-104809521	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4219G>A; p.A1407T; 9:104809521-104809521	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2794C>A; p.L932M; 9:104822530-104822530	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1331A>G; p.D444G; 9:104832752-104832752	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1670G>A; p.R557Q; 9:104831667-104831667	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3682C>T; p.R1228W; 9:104816199-104816199	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.660G>T; p.E220D; 9:104858582-104858582	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.4986C>A; p.I1662I; 9:104798556-104798556	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4559+2T>C; p.?; 9:104804624-104804624	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.5383-2_5383-1insT; p.?; 9:104794511-104794512	large_intestine	carcinoma; adenocarcinoma	Unknown
c.1116G>A; p.W372*; 9:104837506-104837506	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.4272_4273CC>TT; p.P1425S; 9:104809467-104809468	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3272T>C; p.M1091T; 9:104818853-104818853	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.212A>T; p.Q71L; 9:104884517-104884517	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3604C>T; p.H1202Y; 9:104816277-104816277	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3110T>C; p.M1037T; 9:104819717-104819717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5821-3C>T; p.?; 9:104791031-104791031	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2748C>T; p.V916V; 9:104822576-104822576	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.955A>G; p.I319V; 9:104840378-104840378	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6065G>C; p.G2022A; 9:104788430-104788430	breast	carcinoma	Substitution - Missense
c.6712A>C; p.N2238H; 9:104784389-104784389	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2992G>A; p.A998T; 9:104820038-104820038	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.371A>G; p.D124G; 9:104883089-104883089	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4607C>T; p.S1536F; 9:104802145-104802145	skin	malignant_melanoma	Substitution - Missense
c.6094C>G; p.L2032V; 9:104788030-104788030	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2814G>T; p.G938G; 9:104822510-104822510	breast	carcinoma	Substitution - coding silent
c.4308G>A; p.W1436*; 9:104806397-104806397	lung	carcinoma; adenocarcinoma	Substitution - Nonsense

COSMIC somatic mutation [Top]