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 summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.07.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

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

Mutation summary in protein domains

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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]