Entrez Gene

Basic Information
Gene ID	6711
Name	SPTBN1
Synonymous	spectrin, beta, non-erythrocytic 1;SPTBN1;spectrin, beta, non-erythrocytic 1
Definition	beta-G spectrin\|beta-II spectrin\|beta-fodrin\|beta-spectrin 2\|beta-spectrin II\|beta-spectrin non-erythrocytic 1\|embryonic liver beta-fodrin\|epididymis luminal protein 102\|fodrin beta chain\|spectrin beta chain, brain 1\|spectrin beta chain, non-erythrocytic
Position	2p21
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 0.12.

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.3030A>G; p.A1010A; 2:54631077-54631077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1417G>A; p.A473T; 2:54626007-54626007	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3987G>A; p.W1329*; 2:54643111-54643111	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2965G>T; p.A989S; 2:54631012-54631012	liver	carcinoma	Substitution - Missense
c.4705G>A; p.D1569N; 2:54646314-54646314	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4705G>A; p.D1569N; 2:54646314-54646314	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1980C>T; p.I660I; 2:54629114-54629114	skin	malignant_melanoma	Substitution - coding silent
c.2915G>A; p.R972Q; 2:54630962-54630962	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1203A>C; p.K401N; 2:54624824-54624824	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2609A>G; p.Q870R; 2:54629743-54629743	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4580A>T; p.N1527I; 2:54646013-54646013	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2371G>C; p.E791Q; 2:54629505-54629505	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4189C>T; p.H1397Y; 2:54644506-54644506	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2356C>T; p.H786Y; 2:54629490-54629490	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4750C>T; p.R1584C; 2:54646359-54646359	salivary_gland; parotid	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.1614C>G; p.L538L; 2:54626204-54626204	liver	carcinoma	Substitution - coding silent
c.2006A>G; p.D669G; 2:54629140-54629140	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1614C>G; p.L538L; 2:54626204-54626204	liver	carcinoma	Substitution - coding silent
c.1614C>G; p.L538L; 2:54626204-54626204	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5578G>A; p.V1860M; 2:54653609-54653609	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.3480C>T; p.N1160N; 2:54631527-54631527	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3480C>T; p.N1160N; 2:54631527-54631527	thyroid	other; neoplasm	Substitution - coding silent
c.1261G>T; p.E421*; 2:54624882-54624882	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3393G>T; p.G1131G; 2:54631440-54631440	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5270C>T; p.T1757M; 2:54649682-54649682	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2884C>T; p.L962F; 2:54630931-54630931	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1393G>A; p.E465K; 2:54625983-54625983	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6722A>C; p.K2241T; 2:54665977-54665977	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4873C>T; p.Q1625*; 2:54647137-54647137	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3733C>T; p.R1245C; 2:54632734-54632734	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.232C>T; p.L78L; 2:54599175-54599175	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1209A>C; p.E403D; 2:54624830-54624830	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6495C>A; p.S2165R; 2:54664527-54664527	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3435G>A; p.Q1145Q; 2:54631482-54631482	skin	malignant_melanoma	Substitution - coding silent
c.5638G>A; p.D1880N; 2:54653669-54653669	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5638G>A; p.D1880N; 2:54653669-54653669	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6880G>C; p.E2294Q; 2:54668354-54668354	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3711C>T; p.S1237S; 2:54632712-54632712	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4941C>A; p.T1647T; 2:54647205-54647205	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2944C>T; p.Q982*; 2:54630991-54630991	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4461C>T; p.I1487I; 2:54645420-54645420	skin	malignant_melanoma	Substitution - coding silent
c.6786C>T; p.C2262C; 2:54666041-54666041	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.503A>G; p.D168G; 2:54616235-54616235	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4619G>A; p.R1540H; 2:54646228-54646228	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4619G>A; p.R1540H; 2:54646228-54646228	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7008C>T; p.I2336I; 2:54668482-54668482	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4619G>A; p.R1540H; 2:54646228-54646228	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4800C>T; p.D1600D; 2:54646409-54646409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.529G>C; p.D177H; 2:54616261-54616261	ovary	other; neoplasm	Substitution - Missense
c.2041C>T; p.R681W; 2:54629175-54629175	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.366C>T; p.F122F; 2:54612226-54612226	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2041C>T; p.R681W; 2:54629175-54629175	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.3180G>C; p.E1060D; 2:54631227-54631227	breast	carcinoma	Substitution - Missense
c.6283G>A; p.E2095K; 2:54659193-54659193	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5757G>T; p.M1919I; 2:54653788-54653788	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1578G>A; p.M526I; 2:54626168-54626168	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4908C>G; p.I1636M; 2:54647172-54647172	ovary	carcinoma; clear_cell_carcinoma	Substitution - Missense
c.3376G>A; p.E1126K; 2:54631423-54631423	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5757G>T; p.M1919I; 2:54653788-54653788	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3021C>T; p.A1007A; 2:54631068-54631068	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2433C>G; p.P811P; 2:54629567-54629567	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3170C>T; p.S1057F; 2:54631217-54631217	skin	malignant_melanoma	Substitution - Missense
c.148+2T>A; p.?; 2:54526568-54526568	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.6251T>C; p.L2084S; 2:54659161-54659161	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5216G>A; p.R1739Q; 2:54649628-54649628	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5216G>A; p.R1739Q; 2:54649628-54649628	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2081T>A; p.F694Y; 2:54629215-54629215	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.124C>T; p.R42W; 2:54526542-54526542	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.124C>T; p.R42W; 2:54526542-54526542	breast	carcinoma	Substitution - Missense
c.4757G>T; p.R1586M; 2:54646366-54646366	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5445G>A; p.K1815K; 2:54649857-54649857	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1782C>T; p.F594F; 2:54628234-54628234	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2896G>T; p.E966*; 2:54630943-54630943	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2754C>T; p.S918S; 2:54629976-54629976	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6309C>A; p.P2103P; 2:54659219-54659219	skin	malignant_melanoma	Substitution - coding silent
c.6418C>T; p.R2140W; 2:54659997-54659997	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2515C>T; p.R839W; 2:54629649-54629649	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1888C>T; p.R630C; 2:54629022-54629022	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3022A>T; p.I1008F; 2:54631069-54631069	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5743C>T; p.R1915C; 2:54653774-54653774	skin; scalp	malignant_melanoma	Substitution - Missense
c.1888C>T; p.R630C; 2:54629022-54629022	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5743C>T; p.R1915C; 2:54653774-54653774	skin; extremity	malignant_melanoma	Substitution - Missense
c.4397A>C; p.K1466T; 2:54645356-54645356	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7000G>C; p.V2334L; 2:54668474-54668474	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1150C>T; p.R384W; 2:54623564-54623564	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1202A>C; p.K401T; 2:54624823-54624823	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2365G>A; p.V789M; 2:54629499-54629499	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4941C>T; p.T1647T; 2:54647205-54647205	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4941C>T; p.T1647T; 2:54647205-54647205	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.85G>A; p.D29N; 2:54526503-54526503	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2458G>A; p.V820M; 2:54629592-54629592	prostate	carcinoma	Substitution - Missense
c.4320A>C; p.Q1440H; 2:54645279-54645279	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1249C>T; p.Q417*; 2:54624870-54624870	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6736G>A; p.G2246R; 2:54665991-54665991	ovary	other; neoplasm	Substitution - Missense
c.6736G>A; p.G2246R; 2:54665991-54665991	ovary	other; neoplasm	Substitution - Missense
c.4841A>G; p.Y1614C; 2:54646450-54646450	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1953A>G; p.E651E; 2:54629087-54629087	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4489G>A; p.E1497K; 2:54645448-54645448	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.6876+4A>G; p.?; 2:54667650-54667650	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Unknown
c.6773A>C; p.K2258T; 2:54666028-54666028	liver	carcinoma	Substitution - Missense
c.2145C>T; p.I715I; 2:54629279-54629279	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5748C>T; p.F1916F; 2:54653779-54653779	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1044C>T; p.R348R; 2:54622467-54622467	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6719C>T; p.A2240V; 2:54665974-54665974	skin	malignant_melanoma	Substitution - Missense
c.2866A>G; p.S956G; 2:54630913-54630913	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1865A>C; p.E622A; 2:54628999-54628999	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2616C>T; p.L872L; 2:54629750-54629750	breast	carcinoma	Substitution - coding silent
c.2448G>A; p.E816E; 2:54629582-54629582	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1777_1781delAAGTT; p.K593fs*11; 2:54628229-54628233	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5694C>T; p.D1898D; 2:54653725-54653725	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4741A>G; p.T1581A; 2:54646350-54646350	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5968G>T; p.E1990*; 2:54655920-54655920	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.4741A>G; p.T1581A; 2:54646350-54646350	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2448G>A; p.E816E; 2:54629582-54629582	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1367C>T; p.A456V; 2:54625957-54625957	central_nervous_system; brain	glioma	Substitution - Missense
c.4664G>C; p.S1555T; 2:54646273-54646273	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1043G>A; p.R348H; 2:54622466-54622466	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3925C>G; p.L1309V; 2:54643049-54643049	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1916G>A; p.R639H; 2:54629050-54629050	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2544T>G; p.T848T; 2:54629678-54629678	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.246T>G; p.L82L; 2:54599189-54599189	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1449C>T; p.A483A; 2:54626039-54626039	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4530C>T; p.S1510S; 2:54645963-54645963	skin	malignant_melanoma	Substitution - coding silent
c.5401C>A; p.L1801I; 2:54649813-54649813	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1778_1781delAGTT; p.K593fs*15; 2:54628230-54628233	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.6215G>T; p.R2072M; 2:54658018-54658018	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1287C>T; p.R429R; 2:54624908-54624908	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6976G>A; p.A2326T; 2:54668450-54668450	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5994_5995GA>TT; p.K1998_R1999>NW; 2:54655946-54655947	urinary_tract; bladder	carcinoma	Complex - compound substitution
c.4795T>G; p.F1599V; 2:54646404-54646404	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1226C>T; p.A409V; 2:54624847-54624847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.909G>T; p.M303I; 2:54622332-54622332	oesophagus	carcinoma	Substitution - Missense
c.7044C>T; p.D2348D; 2:54668518-54668518	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.760G>A; p.E254K; 2:54618190-54618190	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2998G>A; p.G1000S; 2:54631045-54631045	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4726C>G; p.L1576V; 2:54646335-54646335	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.6872A>G; p.D2291G; 2:54667642-54667642	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.409G>T; p.D137Y; 2:54612269-54612269	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3205C>T; p.R1069W; 2:54631252-54631252	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4901A>G; p.H1634R; 2:54647165-54647165	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6126C>T; p.S2042S; 2:54657929-54657929	skin	malignant_melanoma	Substitution - coding silent
c.5123A>G; p.D1708G; 2:54649111-54649111	central_nervous_system; brain	glioma	Substitution - Missense
c.4063C>G; p.L1355V; 2:54644380-54644380	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.312C>A; p.T104T; 2:54612172-54612172	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5802C>T; p.I1934I; 2:54653833-54653833	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1378G>A; p.A460T; 2:54625968-54625968	NS	NS	Substitution - Missense
c.4532C>T; p.T1511M; 2:54645965-54645965	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6127C>T; p.R2043*; 2:54657930-54657930	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6911C>T; p.S2304F; 2:54668385-54668385	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4896G>A; p.K1632K; 2:54647160-54647160	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3210C>T; p.D1070D; 2:54631257-54631257	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.5221C>T; p.R1741W; 2:54649633-54649633	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5221C>T; p.R1741W; 2:54649633-54649633	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2136G>A; p.S712S; 2:54629270-54629270	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.402G>A; p.G134G; 2:54612262-54612262	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1522C>T; p.R508W; 2:54626112-54626112	pancreas	carcinoma	Substitution - Missense
c.1522C>T; p.R508W; 2:54626112-54626112	pancreas	carcinoma	Substitution - Missense
c.3236C>T; p.S1079F; 2:54631283-54631283	skin	malignant_melanoma	Substitution - Missense
c.1522C>T; p.R508W; 2:54626112-54626112	skin	malignant_melanoma	Substitution - Missense
c.4296G>T; p.R1432R; 2:54645255-54645255	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.6420G>T; p.R2140R; 2:54659999-54659999	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4865A>C; p.K1622T; 2:54646474-54646474	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5497G>T; p.G1833W; 2:54649909-54649909	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2137G>A; p.E713K; 2:54629271-54629271	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.954T>C; p.I318I; 2:54622377-54622377	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3941T>A; p.L1314*; 2:54643065-54643065	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.2351A>T; p.K784M; 2:54629485-54629485	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5834C>G; p.S1945C; 2:54655081-54655081	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3342C>T; p.Y1114Y; 2:54631389-54631389	breast	carcinoma	Substitution - coding silent
c.4336C>T; p.L1446L; 2:54645295-54645295	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3035T>G; p.L1012R; 2:54631082-54631082	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.6229G>T; p.E2077*; 2:54658032-54658032	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4042G>A; p.E1348K; 2:54644359-54644359	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1493G>A; p.R498H; 2:54626083-54626083	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4334C>T; p.A1445V; 2:54645293-54645293	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1798G>A; p.G600S; 2:54628250-54628250	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6458G>A; p.G2153D; 2:54664490-54664490	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.932C>T; p.A311V; 2:54622355-54622355	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6478A>G; p.S2160G; 2:54664510-54664510	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.430C>T; p.R144W; 2:54612290-54612290	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.2211G>A; p.K737K; 2:54629345-54629345	skin	malignant_melanoma	Substitution - coding silent
c.4124G>A; p.R1375Q; 2:54644441-54644441	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6478A>G; p.S2160G; 2:54664510-54664510	liver	carcinoma	Substitution - Missense
c.3333C>T; p.I1111I; 2:54631380-54631380	breast	carcinoma	Substitution - coding silent
c.2908T>C; p.W970R; 2:54630955-54630955	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2364C>T; p.D788D; 2:54629498-54629498	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6972C>T; p.S2324S; 2:54668446-54668446	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.612C>T; p.D204D; 2:54617653-54617653	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1213G>A; p.E405K; 2:54624834-54624834	skin	malignant_melanoma	Substitution - Missense
c.6615T>A; p.N2205K; 2:54664647-54664647	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1740G>A; p.Q580Q; 2:54628192-54628192	pancreas	carcinoid-endocrine_tumour	Substitution - coding silent
c.1080G>A; p.G360G; 2:54623494-54623494	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.1524G>A; p.R508R; 2:54626114-54626114	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1998C>T; p.Y666Y; 2:54629132-54629132	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3057G>A; p.A1019A; 2:54631104-54631104	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5555A>T; p.D1852V; 2:54649967-54649967	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3938G>A; p.W1313*; 2:54643062-54643062	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1325A>C; p.Q442P; 2:54624946-54624946	breast	carcinoma	Substitution - Missense
c.1568G>A; p.R523Q; 2:54626158-54626158	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1285C>T; p.R429C; 2:54624906-54624906	skin	malignant_melanoma	Substitution - Missense
c.3457G>A; p.E1153K; 2:54631504-54631504	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2563T>G; p.F855V; 2:54629697-54629697	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5927C>T; p.S1976F; 2:54655174-54655174	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5437G>A; p.D1813N; 2:54649849-54649849	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.111G>A; p.A37A; 2:54526529-54526529	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.5836G>A; p.V1946I; 2:54655083-54655083	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.300+2T>C; p.?; 2:54599245-54599245	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.3515A>G; p.Q1172R; 2:54631562-54631562	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4534G>A; p.D1512N; 2:54645967-54645967	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5263G>A; p.V1755M; 2:54649675-54649675	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1920C>T; p.L640L; 2:54629054-54629054	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1392C>T; p.H464H; 2:54625982-54625982	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1392C>T; p.H464H; 2:54625982-54625982	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1392C>T; p.H464H; 2:54625982-54625982	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1027G>A; p.A343T; 2:54622450-54622450	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.199C>A; p.H67N; 2:54599142-54599142	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.776A>G; p.D259G; 2:54621412-54621412	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6718G>A; p.A2240T; 2:54665973-54665973	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2066G>A; p.G689D; 2:54629200-54629200	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6912C>T; p.S2304S; 2:54668386-54668386	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2619C>T; p.N873N; 2:54629753-54629753	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3905C>T; p.S1302F; 2:54643029-54643029	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5842C>T; p.L1948F; 2:54655089-54655089	large_intestine; colon	carcinoma	Substitution - Missense
c.3102G>C; p.L1034L; 2:54631149-54631149	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.3948T>C; p.H1316H; 2:54643072-54643072	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.6298_6299delCC; p.P2100fs*35; 2:54659208-54659209	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.5842C>T; p.L1948F; 2:54655089-54655089	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4363G>A; p.E1455K; 2:54645322-54645322	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.319C>T; p.R107*; 2:54612179-54612179	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5438A>G; p.D1813G; 2:54649850-54649850	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.319C>T; p.R107*; 2:54612179-54612179	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.6971G>A; p.S2324N; 2:54668445-54668445	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5579T>G; p.V1860G; 2:54653610-54653610	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3772A>G; p.R1258G; 2:54637717-54637717	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2112G>T; p.M704I; 2:54629246-54629246	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3749T>G; p.V1250G; 2:54632750-54632750	breast	carcinoma	Substitution - Missense
c.112C>T; p.R38W; 2:54526530-54526530	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5775C>G; p.L1925L; 2:54653806-54653806	central_nervous_system; brain	glioma	Substitution - coding silent
c.4628A>G; p.D1543G; 2:54646237-54646237	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6477G>A; p.T2159T; 2:54664509-54664509	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.6733T>G; p.S2245A; 2:54665988-54665988	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.5901C>T; p.F1967F; 2:54655148-54655148	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.91G>A; p.D31N; 2:54526509-54526509	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.831C>A; p.F277L; 2:54621467-54621467	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5C>T; p.T2M; 2:54526423-54526423	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3680C>G; p.A1227G; 2:54632681-54632681	breast	carcinoma	Substitution - Missense
c.3363G>A; p.M1121I; 2:54631410-54631410	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6477G>T; p.T2159T; 2:54664509-54664509	prostate	adenoma	Substitution - coding silent
c.3190C>G; p.L1064V; 2:54631237-54631237	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6456C>T; p.N2152N; 2:54664488-54664488	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3951A>C; p.Q1317H; 2:54643075-54643075	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.646C>T; p.R216W; 2:54617687-54617687	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3217G>A; p.D1073N; 2:54631264-54631264	pancreas	carcinoma	Substitution - Missense
c.3217G>A; p.D1073N; 2:54631264-54631264	pancreas	carcinoma	Substitution - Missense
c.6959C>T; p.T2320M; 2:54668433-54668433	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6959C>T; p.T2320M; 2:54668433-54668433	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.5233C>T; p.R1745*; 2:54649645-54649645	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.803C>A; p.T268N; 2:54621439-54621439	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1328G>A; p.R443H; 2:54624949-54624949	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1328G>A; p.R443H; 2:54624949-54624949	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3080C>T; p.P1027L; 2:54631127-54631127	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3080C>T; p.P1027L; 2:54631127-54631127	skin	malignant_melanoma	Substitution - Missense
c.5550G>C; p.E1850D; 2:54649962-54649962	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3080C>T; p.P1027L; 2:54631127-54631127	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3080C>T; p.P1027L; 2:54631127-54631127	skin	malignant_melanoma	Substitution - Missense
c.2043G>T; p.R681R; 2:54629177-54629177	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2307C>A; p.S769R; 2:54629441-54629441	liver	carcinoma	Substitution - Missense
c.2301C>T; p.V767V; 2:54629435-54629435	skin	malignant_melanoma	Substitution - coding silent
c.1423G>A; p.E475K; 2:54626013-54626013	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2790G>C; p.Q930H; 2:54630012-54630012	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.3767G>T; p.R1256I; 2:54632768-54632768	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5458C>T; p.R1820C; 2:54649870-54649870	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2198C>T; p.S733L; 2:54629332-54629332	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3928C>T; p.H1310Y; 2:54643052-54643052	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6026G>A; p.R2009Q; 2:54655978-54655978	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.6570C>T; p.A2190A; 2:54664602-54664602	skin	malignant_melanoma	Substitution - coding silent
c.4597G>T; p.E1533*; 2:54646206-54646206	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2921A>G; p.K974R; 2:54630968-54630968	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1196T>C; p.L399P; 2:54624817-54624817	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4875G>A; p.Q1625Q; 2:54647139-54647139	breast	carcinoma	Substitution - coding silent
c.3947A>C; p.H1316P; 2:54643071-54643071	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.103A>C; p.S35R; 2:54526521-54526521	pancreas	carcinoma	Substitution - Missense
c.237C>A; p.Y79*; 2:54599180-54599180	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.751T>C; p.L251L; 2:54618181-54618181	skin	malignant_melanoma	Substitution - coding silent
c.3090C>T; p.A1030A; 2:54631137-54631137	skin	malignant_melanoma	Substitution - coding silent
c.5637C>T; p.A1879A; 2:54653668-54653668	pancreas	carcinoma	Substitution - coding silent
c.6916A>G; p.I2306V; 2:54668390-54668390	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5823-2A>G; p.?; 2:54655068-54655068	lung	carcinoma; small_cell_carcinoma	Unknown
c.1242C>T; p.L414L; 2:54624863-54624863	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.2488C>T; p.R830W; 2:54629622-54629622	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2168G>A; p.R723Q; 2:54629302-54629302	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5852A>G; p.N1951S; 2:54655099-54655099	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1251G>A; p.Q417Q; 2:54624872-54624872	skin; arm	malignant_melanoma	Substitution - coding silent
c.6876T>C; p.D2292D; 2:54667646-54667646	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5917C>A; p.L1973I; 2:54655164-54655164	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.6390C>T; p.N2130N; 2:54659969-54659969	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6300G>A; p.P2100P; 2:54659210-54659210	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6977C>T; p.A2326V; 2:54668451-54668451	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3657C>T; p.D1219D; 2:54632658-54632658	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2669+6C>T; p.?; 2:54629809-54629809	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1490A>G; p.K497R; 2:54626080-54626080	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.6977C>T; p.A2326V; 2:54668451-54668451	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6300G>A; p.P2100P; 2:54659210-54659210	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.325C>T; p.R109C; 2:54612185-54612185	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1274G>T; p.R425L; 2:54624895-54624895	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5764G>A; p.D1922N; 2:54653795-54653795	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1101C>T; p.F367F; 2:54623515-54623515	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3608G>C; p.G1203A; 2:54632609-54632609	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1101C>T; p.F367F; 2:54623515-54623515	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.3597C>A; p.T1199T; 2:54632598-54632598	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.133A>T; p.I45F; 2:54526551-54526551	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2683G>T; p.E895*; 2:54629905-54629905	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3677A>G; p.N1226S; 2:54632678-54632678	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4494C>T; p.I1498I; 2:54645453-54645453	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5744G>A; p.R1915H; 2:54653775-54653775	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.590A>G; p.N197S; 2:54617631-54617631	liver	carcinoma	Substitution - Missense
c.4231G>T; p.D1411Y; 2:54644548-54644548	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3554T>A; p.L1185H; 2:54631601-54631601	liver	carcinoma	Substitution - Missense
c.3993C>A; p.D1331E; 2:54643117-54643117	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.590A>G; p.N197S; 2:54617631-54617631	liver	carcinoma	Substitution - Missense
c.6076G>A; p.A2026T; 2:54657879-54657879	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6778G>A; p.A2260T; 2:54666033-54666033	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2370G>A; p.A790A; 2:54629504-54629504	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5279A>C; p.H1760P; 2:54649691-54649691	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.3487A>C; p.N1163H; 2:54631534-54631534	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2199G>A; p.S733S; 2:54629333-54629333	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2456A>G; p.D819G; 2:54629590-54629590	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.798A>T; p.I266I; 2:54621434-54621434	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2199G>A; p.S733S; 2:54629333-54629333	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5624C>T; p.A1875V; 2:54653655-54653655	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.6929A>G; p.K2310R; 2:54668403-54668403	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.995A>G; p.N332S; 2:54622418-54622418	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3327C>T; p.N1109N; 2:54631374-54631374	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2007C>T; p.D669D; 2:54629141-54629141	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.736G>A; p.G246S; 2:54618166-54618166	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.360T>G; p.L120L; 2:54612220-54612220	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2098G>A; p.E700K; 2:54629232-54629232	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2937G>T; p.E979D; 2:54630984-54630984	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.543_545delGTG; p.W182delW; 2:54616275-54616277	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.2263G>T; p.D755Y; 2:54629397-54629397	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3726C>G; p.N1242K; 2:54632727-54632727	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4936G>A; p.E1646K; 2:54647200-54647200	breast	carcinoma	Substitution - Missense
c.6706T>A; p.F2236I; 2:54665961-54665961	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5656G>T; p.E1886*; 2:54653687-54653687	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3072C>T; p.S1024S; 2:54631119-54631119	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1183G>A; p.A395T; 2:54624804-54624804	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.648-1G>T; p.?; 2:54618077-54618077	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.552G>A; p.Q184Q; 2:54616284-54616284	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3246G>A; p.Q1082Q; 2:54631293-54631293	liver	carcinoma	Substitution - coding silent
c.3913G>T; p.E1305*; 2:54643037-54643037	breast	carcinoma	Substitution - Nonsense
c.2264A>T; p.D755V; 2:54629398-54629398	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6975C>T; p.R2325R; 2:54668449-54668449	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1827C>T; p.I609I; 2:54628961-54628961	skin	malignant_melanoma	Substitution - coding silent
c.2738G>A; p.R913H; 2:54629960-54629960	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1219G>T; p.E407*; 2:54624840-54624840	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4967G>A; p.R1656Q; 2:54647231-54647231	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2829G>C; p.L943L; 2:54630876-54630876	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6865G>A; p.A2289T; 2:54667635-54667635	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6790G>T; p.V2264L; 2:54666045-54666045	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.784G>C; p.D262H; 2:54621420-54621420	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.398T>C; p.M133T; 2:54612258-54612258	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.678G>T; p.K226N; 2:54618108-54618108	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6019G>T; p.E2007*; 2:54655971-54655971	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.6307C>T; p.P2103S; 2:54659217-54659217	pancreas	carcinoma	Substitution - Missense
c.1183-1G>T; p.?; 2:54624803-54624803	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2457C>A; p.D819E; 2:54629591-54629591	thyroid	carcinoma	Substitution - Missense
c.5823-1G>T; p.?; 2:54655069-54655069	lung	carcinoma; small_cell_carcinoma	Unknown
c.3917C>G; p.A1306G; 2:54643041-54643041	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3151C>A; p.L1051M; 2:54631198-54631198	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2996C>T; p.T999I; 2:54631043-54631043	skin	malignant_melanoma	Substitution - Missense
c.2413G>A; p.E805K; 2:54629547-54629547	skin; extremity	malignant_melanoma	Substitution - Missense
c.2045C>T; p.A682V; 2:54629179-54629179	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.5676C>T; p.A1892A; 2:54653707-54653707	skin	malignant_melanoma	Substitution - coding silent
c.5202+2C>T; p.?; 2:54649192-54649192	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.4387G>A; p.V1463M; 2:54645346-54645346	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1621A>G; p.M541V; 2:54626211-54626211	liver	carcinoma	Substitution - Missense
c.4387G>A; p.V1463M; 2:54645346-54645346	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1621A>G; p.M541V; 2:54626211-54626211	liver	carcinoma	Substitution - Missense
c.1621A>G; p.M541V; 2:54626211-54626211	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2221G>C; p.E741Q; 2:54629355-54629355	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5582G>T; p.R1861M; 2:54653613-54653613	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2799C>A; p.L933L; 2:54630021-54630021	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2799C>A; p.L933L; 2:54630021-54630021	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2856G>A; p.L952L; 2:54630903-54630903	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6997G>A; p.V2333I; 2:54668471-54668471	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3719A>G; p.N1240S; 2:54632720-54632720	central_nervous_system; brain	glioma	Substitution - Missense
c.3079C>T; p.P1027S; 2:54631126-54631126	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7027G>A; p.G2343S; 2:54668501-54668501	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2202C>T; p.A734A; 2:54629336-54629336	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1791C>T; p.D597D; 2:54628243-54628243	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5390G>T; p.R1797I; 2:54649802-54649802	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2737C>T; p.R913C; 2:54629959-54629959	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.573C>A; p.P191P; 2:54617614-54617614	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.481G>T; p.D161Y; 2:54616213-54616213	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1070C>A; p.T357N; 2:54623484-54623484	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4439A>G; p.N1480S; 2:54645398-54645398	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6345C>T; p.S2115S; 2:54659255-54659255	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent

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]