Entrez Gene

Basic Information
Gene ID	6595
Name	SMARCA2
Synonymous	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2;SMARCA2;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
Definition	ATP-dependent helicase SMARCA2\|BAF190B\|BRG1-associated factor 190B\|SNF2-alpha\|SNF2/SWI2-like protein 2\|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a2\|global transcription activator homologous sequence\|probable global transcrip
Position	9p22.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.934_935CC>TA; p.P312*; 9:2047372-2047373	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3558G>A; p.A1186A; 9:2115923-2115923	prostate	adenoma	Substitution - coding silent
c.3485G>A; p.R1162H; 9:2115850-2115850	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1249C>T; p.R417W; 9:2056747-2056747	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1249C>T; p.R417W; 9:2056747-2056747	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1952C>T; p.S651F; 9:2076245-2076245	skin	malignant_melanoma	Substitution - Missense
c.1673A>G; p.K558R; 9:2060967-2060967	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3962C>T; p.T1321M; 9:2123918-2123918	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.731C>A; p.P244Q; 9:2039841-2039841	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3556G>A; p.A1186T; 9:2115921-2115921	bone; sternum	chondrosarcoma	Substitution - Missense
c.495C>T; p.S165S; 9:2039605-2039605	prostate	carcinoma	Substitution - coding silent
c.3381A>T; p.R1127S; 9:2110342-2110342	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1810A>G; p.K604E; 9:2073275-2073275	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2430G>T; p.M810I; 9:2084100-2084100	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1023A>T; p.E341D; 9:2047461-2047461	liver	carcinoma	Substitution - Missense
c.1302G>T; p.K434N; 9:2056800-2056800	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1023A>T; p.E341D; 9:2047461-2047461	liver	carcinoma	Substitution - Missense
c.1399C>T; p.R467W; 9:2058342-2058342	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1399C>T; p.R467W; 9:2058342-2058342	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4171A>G; p.I1391V; 9:2161875-2161875	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3605G>T; p.G1202V; 9:2115970-2115970	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.624G>C; p.G208G; 9:2039734-2039734	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3091G>C; p.E1031Q; 9:2101582-2101582	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.574C>A; p.L192M; 9:2039684-2039684	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2110G>A; p.V704M; 9:2077702-2077702	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2011G>C; p.E671Q; 9:2076304-2076304	breast	carcinoma	Substitution - Missense
c.4045C>T; p.R1349*; 9:2161749-2161749	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2929C>T; p.L977L; 9:2096702-2096702	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.304C>G; p.P102A; 9:2033030-2033030	prostate	carcinoma	Substitution - Missense
c.1059C>T; p.R353R; 9:2054609-2054609	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4413C>T; p.V1471V; 9:2182194-2182194	skin	malignant_melanoma	Substitution - coding silent
c.1998C>T; p.S666S; 9:2076291-2076291	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1924T>C; p.Y642H; 9:2073612-2073612	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.434C>A; p.P145Q; 9:2039544-2039544	skin	malignant_melanoma	Substitution - Missense
c.687G>A; p.Q229Q; 9:2039797-2039797	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.681G>A; p.Q227Q; 9:2039791-2039791	large_intestine; rectum	NS	Substitution - coding silent
c.782G>A; p.R261K; 9:2039892-2039892	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1738G>A; p.D580N; 9:2070463-2070463	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.711G>A; p.Q237Q; 9:2039821-2039821	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3078G>A; p.E1026E; 9:2097471-2097471	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2394T>A; p.S798S; 9:2083392-2083392	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.3078G>A; p.E1026E; 9:2097471-2097471	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.711G>A; p.Q237Q; 9:2039821-2039821	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.669G>A; p.Q223Q; 9:2039779-2039779	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2451G>A; p.Q817Q; 9:2084121-2084121	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.669G>A; p.Q223Q; 9:2039779-2039779	ovary	other; neoplasm	Substitution - coding silent
c.2826A>C; p.L942F; 9:2088556-2088556	ovary	other; neoplasm	Substitution - Missense
c.669G>A; p.Q223Q; 9:2039779-2039779	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.669G>A; p.Q223Q; 9:2039779-2039779	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.669G>A; p.Q223Q; 9:2039779-2039779	skin	malignant_melanoma	Substitution - coding silent
c.2826A>C; p.L942F; 9:2088556-2088556	ovary	other; neoplasm	Substitution - Missense
c.2397G>A; p.V799V; 9:2083395-2083395	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4027C>A; p.L1343I; 9:2161731-2161731	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4027C>A; p.L1343I; 9:2161731-2161731	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1935+2T>C; p.?; 9:2073625-2073625	pancreas	carcinoma	Unknown
c.1017C>T; p.P339P; 9:2047455-2047455	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.356-2A>T; p.?; 9:2039464-2039464	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1130C>T; p.T377I; 9:2054680-2054680	skin	malignant_melanoma	Substitution - Missense
c.1333C>T; p.R445C; 9:2056831-2056831	central_nervous_system; brain	glioma	Substitution - Missense
c.334C>T; p.P112S; 9:2033060-2033060	pancreas	carcinoma	Substitution - Missense
c.166C>T; p.P56S; 9:2029188-2029188	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2216A>G; p.Y739C; 9:2081863-2081863	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1127C>T; p.A376V; 9:2054677-2054677	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2936G>A; p.R979H; 9:2096709-2096709	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4500G>A; p.K1500K; 9:2186134-2186134	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.664_666delCAA; p.Q238delQ; 9:2039774-2039776	oesophagus	carcinoma; adenocarcinoma	Deletion - In frame
c.3448C>T; p.P1150S; 9:2110409-2110409	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3864C>T; p.D1288D; 9:2123820-2123820	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2851A>G; p.K951E; 9:2088581-2088581	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.576G>A; p.L192L; 9:2039686-2039686	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2604C>A; p.N868K; 9:2086906-2086906	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2234G>A; p.G745E; 9:2081881-2081881	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4207G>A; p.V1403M; 9:2170426-2170426	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3797G>A; p.R1266Q; 9:2123753-2123753	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3445A>G; p.N1149D; 9:2110406-2110406	liver	carcinoma	Substitution - Missense
c.3559G>C; p.A1187P; 9:2115924-2115924	liver	carcinoma	Substitution - Missense
c.3559G>C; p.A1187P; 9:2115924-2115924	liver	carcinoma	Substitution - Missense
c.3445A>G; p.N1149D; 9:2110406-2110406	liver	carcinoma	Substitution - Missense
c.1663_1664insAGA; p.K558_R559insK; 9:2060957-2060958	endometrium	carcinoma; endometrioid_carcinoma	Insertion - In frame
c.404C>A; p.S135Y; 9:2039514-2039514	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.395A>C; p.E132A; 9:2039505-2039505	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3225G>C; p.M1075I; 9:2104102-2104102	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3894A>G; p.E1298E; 9:2123850-2123850	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4165G>A; p.A1389T; 9:2161869-2161869	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3894A>G; p.E1298E; 9:2123850-2123850	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2345T>C; p.L782P; 9:2081992-2081992	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.633G>A; p.T211T; 9:2039743-2039743	liver	carcinoma	Substitution - coding silent
c.472C>T; p.P158S; 9:2039582-2039582	skin	malignant_melanoma	Substitution - Missense
c.3672G>A; p.E1224E; 9:2116037-2116037	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3971A>G; p.Q1324R; 9:2123927-2123927	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3852C>T; p.I1284I; 9:2123808-2123808	skin	malignant_melanoma	Substitution - coding silent
c.3852C>T; p.I1284I; 9:2123808-2123808	skin	malignant_melanoma	Substitution - coding silent
c.4118C>G; p.A1373G; 9:2161822-2161822	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2251A>G; p.M751V; 9:2081898-2081898	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3139C>T; p.R1047W; 9:2104016-2104016	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2830C>T; p.P944S; 9:2088560-2088560	skin	malignant_melanoma	Substitution - Missense
c.1627C>T; p.L543L; 9:2060921-2060921	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.511C>T; p.P171S; 9:2039621-2039621	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.1167G>T; p.Q389H; 9:2054717-2054717	breast	carcinoma	Substitution - Missense
c.4371T>C; p.R1457R; 9:2182152-2182152	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2191G>T; p.G731C; 9:2081838-2081838	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2828G>T; p.R943I; 9:2088558-2088558	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3484C>T; p.R1162C; 9:2115849-2115849	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3232C>T; p.L1078F; 9:2104109-2104109	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3395G>T; p.G1132V; 9:2110356-2110356	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.3613G>T; p.D1205Y; 9:2115978-2115978	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2887G>T; p.E963*; 9:2096660-2096660	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Nonsense
c.707A>C; p.Q236P; 9:2039817-2039817	thyroid	other; neoplasm	Substitution - Missense
c.2857G>A; p.E953K; 9:2088587-2088587	breast	carcinoma	Substitution - Missense
c.3613G>T; p.D1205Y; 9:2115978-2115978	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4132C>T; p.P1378S; 9:2161836-2161836	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3314G>A; p.R1105H; 9:2110275-2110275	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1403C>T; p.S468F; 9:2058346-2058346	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1250G>A; p.R417Q; 9:2056748-2056748	pancreas	carcinoma	Substitution - Missense
c.584G>T; p.G195V; 9:2039694-2039694	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4140C>T; p.P1380P; 9:2161844-2161844	skin	malignant_melanoma	Substitution - coding silent
c.2884-10T>G; p.?; 9:2096647-2096647	skin; leg	malignant_melanoma; nodular	Unknown
c.3449C>A; p.P1150H; 9:2110410-2110410	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2502A>G; p.I834M; 9:2084172-2084172	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1572G>A; p.R524R; 9:2060866-2060866	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3377C>T; p.T1126I; 9:2110338-2110338	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.668A>C; p.Q223P; 9:2039778-2039778	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1202G>A; p.R401H; 9:2056700-2056700	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.26C>T; p.A9V; 9:2029048-2029048	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4370G>A; p.R1457H; 9:2182151-2182151	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2853G>C; p.K951N; 9:2088583-2088583	breast	carcinoma	Substitution - Missense
c.414G>A; p.M138I; 9:2039524-2039524	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.708A>G; p.Q236Q; 9:2039818-2039818	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.717_719delGCA; p.Q242delQ; 9:2039827-2039829	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.2975C>T; p.S992F; 9:2096748-2096748	skin	malignant_melanoma	Substitution - Missense
c.3366C>G; p.F1122L; 9:2110327-2110327	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3485G>T; p.R1162L; 9:2115850-2115850	liver	carcinoma	Substitution - Missense
c.2423C>T; p.P808L; 9:2084093-2084093	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.501C>T; p.P167P; 9:2039611-2039611	skin	malignant_melanoma	Substitution - coding silent
c.3485G>T; p.R1162L; 9:2115850-2115850	liver	carcinoma	Substitution - Missense
c.501C>T; p.P167P; 9:2039611-2039611	skin	malignant_melanoma	Substitution - coding silent
c.2445C>T; p.V815V; 9:2084115-2084115	skin	malignant_melanoma	Substitution - coding silent
c.1489C>T; p.R497W; 9:2058432-2058432	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1280G>A; p.R427H; 9:2056778-2056778	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1489C>T; p.R497W; 9:2058432-2058432	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.117C>G; p.S39S; 9:2029139-2029139	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2516T>G; p.I839S; 9:2084186-2084186	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2983G>C; p.D995H; 9:2096756-2096756	liver	carcinoma	Substitution - Missense
c.2983G>C; p.D995H; 9:2096756-2096756	liver	carcinoma	Substitution - Missense
c.476G>A; p.G159D; 9:2039586-2039586	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1269G>C; p.L423L; 9:2056767-2056767	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2164G>A; p.G722R; 9:2077756-2077756	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.476G>A; p.G159D; 9:2039586-2039586	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2052C>T; p.D684D; 9:2077644-2077644	pancreas	carcinoma	Substitution - coding silent
c.4073_4075delAAG; p.E1359delE; 9:2161777-2161779	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.4480G>A; p.V1494I; 9:2186114-2186114	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2041G>A; p.A681T; 9:2077633-2077633	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.79C>A; p.L27I; 9:2029101-2029101	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2233G>A; p.G745R; 9:2081880-2081880	skin	malignant_melanoma	Substitution - Missense
c.3657C>T; p.A1219A; 9:2116022-2116022	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2078A>T; p.Y693F; 9:2077670-2077670	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1151G>A; p.R384Q; 9:2054701-2054701	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.683A>C; p.Q228P; 9:2039793-2039793	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4582T>A; p.S1528T; 9:2186216-2186216	salivary_gland; maxilla	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.683A>C; p.Q228P; 9:2039793-2039793	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.683A>C; p.Q228P; 9:2039793-2039793	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1344C>G; p.H448Q; 9:2056842-2056842	thyroid	other; neoplasm	Substitution - Missense
c.3863A>G; p.D1288G; 9:2123819-2123819	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4108C>T; p.R1370C; 9:2161812-2161812	skin	malignant_melanoma	Substitution - Missense
c.3476G>T; p.R1159L; 9:2115841-2115841	salivary_gland; parotid	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.4108C>T; p.R1370C; 9:2161812-2161812	large_intestine	adenoma	Substitution - Missense
c.4112C>A; p.P1371H; 9:2161816-2161816	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3892G>T; p.E1298*; 9:2123848-2123848	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1969G>A; p.E657K; 9:2076262-2076262	skin	malignant_melanoma	Substitution - Missense
c.3562G>A; p.A1188T; 9:2115927-2115927	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3351C>T; p.S1117S; 9:2110312-2110312	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.3036G>A; p.L1012L; 9:2097429-2097429	breast	carcinoma	Substitution - coding silent
c.1132G>T; p.V378L; 9:2054682-2054682	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1132G>T; p.V378L; 9:2054682-2054682	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3680A>G; p.N1227S; 9:2116045-2116045	breast	carcinoma	Substitution - Missense
c.1600G>A; p.D534N; 9:2060894-2060894	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3449C>T; p.P1150L; 9:2110410-2110410	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2337T>A; p.I779I; 9:2081984-2081984	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2490T>A; p.Y830*; 9:2084160-2084160	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Nonsense
c.1407G>T; p.V469V; 9:2058350-2058350	skin	malignant_melanoma	Substitution - coding silent
c.1375G>T; p.A459S; 9:2058318-2058318	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2927T>G; p.I976S; 9:2096700-2096700	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1333C>A; p.R445S; 9:2056831-2056831	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1450C>G; p.H484D; 9:2058393-2058393	breast	carcinoma	Substitution - Missense
c.9G>A; p.T3T; 9:2029031-2029031	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4173C>T; p.I1391I; 9:2161877-2161877	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4173C>T; p.I1391I; 9:2161877-2161877	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4660G>T; p.G1554C; 9:2191331-2191331	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4173C>T; p.I1391I; 9:2161877-2161877	skin	malignant_melanoma	Substitution - coding silent
c.231C>T; p.I77I; 9:2032957-2032957	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.666A>G; p.Q222Q; 9:2039776-2039776	skin	malignant_melanoma	Substitution - coding silent
c.666A>G; p.Q222Q; 9:2039776-2039776	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1012G>T; p.D338Y; 9:2047450-2047450	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1081C>A; p.L361M; 9:2054631-2054631	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.667_669delCAG; p.Q238delQ; 9:2039777-2039779	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - In frame
c.666A>G; p.Q222Q; 9:2039776-2039776	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.666A>G; p.Q222Q; 9:2039776-2039776	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.667_669delCAG; p.Q238delQ; 9:2039777-2039779	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3433G>C; p.D1145H; 9:2110394-2110394	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2648C>T; p.P883L; 9:2086950-2086950	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3201C>A; p.H1067Q; 9:2104078-2104078	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3502G>A; p.E1168K; 9:2115867-2115867	liver	carcinoma	Substitution - Missense
c.3502G>A; p.E1168K; 9:2115867-2115867	liver	carcinoma	Substitution - Missense
c.210G>C; p.M70I; 9:2029232-2029232	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2990A>T; p.K997M; 9:2096763-2096763	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2459G>A; p.S820N; 9:2084129-2084129	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3980G>A; p.R1327K; 9:2123936-2123936	lung	carcinoid-endocrine_tumour	Substitution - Missense
c.3466G>A; p.A1156T; 9:2115831-2115831	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3684+1G>A; p.?; 9:2116050-2116050	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.4734A>G; p.E1578E; 9:2191405-2191405	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4734A>G; p.E1578E; 9:2191405-2191405	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1783G>T; p.V595F; 9:2073248-2073248	ovary	other; neoplasm	Substitution - Missense
c.4204A>G; p.N1402D; 9:2170423-2170423	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.657G>A; p.Q219Q; 9:2039767-2039767	liver	carcinoma	Substitution - coding silent
c.657G>A; p.Q219Q; 9:2039767-2039767	liver	carcinoma	Substitution - coding silent
c.4431C>T; p.N1477N; 9:2182212-2182212	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2659A>G; p.K887E; 9:2086961-2086961	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.744G>A; p.T248T; 9:2039854-2039854	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1070G>T; p.R357M; 9:2054620-2054620	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3392T>C; p.L1131P; 9:2110353-2110353	lung	carcinoid-endocrine_tumour; typical	Substitution - Missense
c.1680G>T; p.R560S; 9:2060974-2060974	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1289A>T; p.E430V; 9:2056787-2056787	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3292G>A; p.G1098S; 9:2104169-2104169	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2348C>T; p.S783L; 9:2081995-2081995	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2348C>T; p.S783L; 9:2081995-2081995	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3292G>A; p.G1098S; 9:2104169-2104169	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4432G>A; p.A1478T; 9:2182213-2182213	pancreas	carcinoma	Substitution - Missense
c.3382G>A; p.A1128T; 9:2110343-2110343	breast	carcinoma	Substitution - Missense
c.4733A>G; p.E1578G; 9:2191404-2191404	large_intestine; colon	carcinoma	Substitution - Missense
c.4369C>T; p.R1457C; 9:2182150-2182150	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3879G>T; p.R1293S; 9:2123835-2123835	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3557C>T; p.A1186V; 9:2115922-2115922	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3666G>A; p.E1222E; 9:2116031-2116031	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.232G>A; p.D78N; 9:2032958-2032958	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.596C>T; p.P199L; 9:2039706-2039706	skin	malignant_melanoma	Substitution - Missense
c.1150C>T; p.R384W; 9:2054700-2054700	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3835G>A; p.E1279K; 9:2123791-2123791	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1150C>T; p.R384W; 9:2054700-2054700	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2406T>G; p.I802M; 9:2083404-2083404	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2542A>T; p.M848L; 9:2086844-2086844	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1884A>G; p.E628E; 9:2073572-2073572	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3604G>T; p.G1202C; 9:2115969-2115969	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1424A>C; p.K475T; 9:2058367-2058367	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2812C>A; p.L938I; 9:2088542-2088542	urinary_tract; bladder	carcinoma	Substitution - Missense
c.705G>A; p.Q235Q; 9:2039815-2039815	breast	carcinoma	Substitution - coding silent
c.4539G>T; p.E1513D; 9:2186173-2186173	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2301G>A; p.M767I; 9:2081948-2081948	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1016C>T; p.P339L; 9:2047454-2047454	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.279C>A; p.S93S; 9:2033005-2033005	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.306T>C; p.P102P; 9:2033032-2033032	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.143C>T; p.P48L; 9:2029165-2029165	skin	malignant_melanoma	Substitution - Missense
c.3360C>T; p.F1120F; 9:2110321-2110321	skin	malignant_melanoma	Substitution - coding silent
c.2530C>T; p.R844W; 9:2086832-2086832	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2530C>T; p.R844W; 9:2086832-2086832	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3779G>T; p.R1260L; 9:2123735-2123735	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3763C>T; p.R1255W; 9:2123719-2123719	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3763C>T; p.R1255W; 9:2123719-2123719	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2883+2T>C; p.?; 9:2088615-2088615	stomach	carcinoma; adenocarcinoma	Unknown
c.553C>T; p.Q185*; 9:2039663-2039663	breast	carcinoma	Substitution - Nonsense
c.3560C>T; p.A1187V; 9:2115925-2115925	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.321C>A; p.G107G; 9:2033047-2033047	oesophagus	carcinoma	Substitution - coding silent
c.3983C>T; p.A1328V; 9:2161687-2161687	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2193C>A; p.G731G; 9:2081840-2081840	breast	carcinoma	Substitution - coding silent
c.3911T>C; p.F1304S; 9:2123867-2123867	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.568A>G; p.K190E; 9:2039678-2039678	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4638C>G; p.D1546E; 9:2191309-2191309	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4638C>G; p.D1546E; 9:2191309-2191309	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1989T>G; p.D663E; 9:2076282-2076282	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1358A>T; p.N453I; 9:2058301-2058301	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1989T>G; p.D663E; 9:2076282-2076282	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3925C>T; p.R1309C; 9:2123881-2123881	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2432G>A; p.R811H; 9:2084102-2084102	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.4150A>G; p.T1384A; 9:2161854-2161854	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2759C>T; p.T920I; 9:2087061-2087061	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.3439G>A; p.D1147N; 9:2110400-2110400	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2570A>C; p.K857T; 9:2086872-2086872	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2691C>T; p.F897F; 9:2086993-2086993	skin	malignant_melanoma	Substitution - coding silent
c.4139C>T; p.P1380L; 9:2161843-2161843	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2759C>T; p.T920I; 9:2087061-2087061	pancreas	carcinoma	Substitution - Missense
c.3490G>A; p.G1164R; 9:2115855-2115855	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1131C>T; p.T377T; 9:2054681-2054681	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.2759C>T; p.T920I; 9:2087061-2087061	pancreas	carcinoma	Substitution - Missense
c.4261C>T; p.R1421*; 9:2181578-2181578	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4261C>T; p.R1421*; 9:2181578-2181578	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4261C>T; p.R1421*; 9:2181578-2181578	liver	carcinoma	Substitution - Nonsense
c.3490G>T; p.G1164W; 9:2115855-2115855	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.4420C>G; p.L1474V; 9:2182201-2182201	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1345C>A; p.Q449K; 9:2056843-2056843	thyroid	other; neoplasm	Substitution - Missense
c.1277C>A; p.A426D; 9:2056775-2056775	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.243T>C; p.H81H; 9:2032969-2032969	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.581G>T; p.R194L; 9:2039691-2039691	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.112_113GG>TT; p.G38F; 9:2029134-2029135	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.494G>A; p.S165N; 9:2039604-2039604	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2564G>A; p.R855Q; 9:2086866-2086866	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3218G>T; p.C1073F; 9:2104095-2104095	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2564G>A; p.R855Q; 9:2086866-2086866	large_intestine; colon	carcinoma	Substitution - Missense
c.2564G>A; p.R855Q; 9:2086866-2086866	salivary_gland; tongue	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.2258T>G; p.L753R; 9:2081905-2081905	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2564G>A; p.R855Q; 9:2086866-2086866	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.744_745insA; p.Q249fs*10; 9:2039854-2039855	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2872C>T; p.L958F; 9:2088602-2088602	soft_tissue; fat	liposarcoma; myxoid-round_cell	Substitution - Missense
c.3410C>T; p.A1137V; 9:2110371-2110371	prostate	carcinoma	Substitution - Missense
c.380C>T; p.P127L; 9:2039490-2039490	breast	carcinoma	Substitution - Missense
c.545delT; p.R183fs*5; 9:2039655-2039655	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.3386G>T; p.G1129V; 9:2110347-2110347	skin	malignant_melanoma	Substitution - Missense
c.545delT; p.R183fs*5; 9:2039655-2039655	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.2028G>A; p.Q676Q; 9:2076321-2076321	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.4022T>C; p.V1341A; 9:2161726-2161726	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2257C>T; p.L753F; 9:2081904-2081904	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4256C>T; p.S1419L; 9:2181573-2181573	skin	malignant_melanoma	Substitution - Missense
c.2683C>G; p.L895V; 9:2086985-2086985	urinary_tract; bladder	carcinoma	Substitution - Missense
c.392C>A; p.P131Q; 9:2039502-2039502	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4506C>T; p.A1502A; 9:2186140-2186140	skin	malignant_melanoma	Substitution - coding silent
c.240A>G; p.I80M; 9:2032966-2032966	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4396G>A; p.D1466N; 9:2182177-2182177	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2350A>G; p.T784A; 9:2083348-2083348	liver	carcinoma	Substitution - Missense
c.4760C>T; p.T1587M; 9:2192726-2192726	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4760C>T; p.T1587M; 9:2192726-2192726	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1057C>T; p.R353C; 9:2054607-2054607	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1079A>G; p.E360G; 9:2054629-2054629	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.699G>A; p.Q233Q; 9:2039809-2039809	thyroid	other; neoplasm	Substitution - coding silent
c.4611G>A; p.V1537V; 9:2191282-2191282	liver	carcinoma	Substitution - coding silent
c.4025G>T; p.R1342L; 9:2161729-2161729	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3988G>A; p.E1330K; 9:2161692-2161692	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1714G>T; p.G572C; 9:2070439-2070439	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1942G>A; p.E648K; 9:2076235-2076235	skin	malignant_melanoma	Substitution - Missense
c.421G>T; p.G141*; 9:2039531-2039531	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense

COSMIC somatic mutation [Top]