Entrez Gene

Basic Information
Gene ID	7057
Name	THBS1
Synonymous	thrombospondin 1;THBS1;thrombospondin 1
Definition	thrombospondin-1\|thrombospondin-1p180
Position	15q15
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 0.15.

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.1410C>T; p.N470N; 15:39588157-39588157	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1410C>T; p.N470N; 15:39588157-39588157	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1768G>A; p.D590N; 15:39589081-39589081	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.763C>A; p.R255S; 15:39584047-39584047	pancreas	carcinoma	Substitution - Missense
c.1827G>C; p.E609D; 15:39589255-39589255	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.2834T>C; p.I945T; 15:39593066-39593066	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1411G>T; p.G471W; 15:39588158-39588158	thyroid	other; neoplasm	Substitution - Missense
c.2875C>T; p.R959*; 15:39593107-39593107	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1471A>G; p.I491V; 15:39588218-39588218	pancreas	carcinoma	Substitution - Missense
c.683G>A; p.R228K; 15:39583672-39583672	oesophagus	carcinoma	Substitution - Missense
c.406G>A; p.G136R; 15:39582531-39582531	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1103G>A; p.C368Y; 15:39585546-39585546	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3418G>A; p.D1140N; 15:39594353-39594353	skin	malignant_melanoma	Substitution - Missense
c.451G>A; p.G151S; 15:39582576-39582576	central_nervous_system; thalamus	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2776C>T; p.R926*; 15:39593008-39593008	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3332G>A; p.R1111H; 15:39594163-39594163	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2776C>T; p.R926*; 15:39593008-39593008	skin	malignant_melanoma	Substitution - Nonsense
c.2776C>T; p.R926*; 15:39593008-39593008	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Nonsense
c.3214C>A; p.P1072T; 15:39593615-39593615	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.354C>T; p.S118S; 15:39582479-39582479	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1567A>G; p.T523A; 15:39588621-39588621	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1567A>G; p.T523A; 15:39588621-39588621	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1567A>G; p.T523A; 15:39588621-39588621	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1567A>G; p.T523A; 15:39588621-39588621	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1567A>G; p.T523A; 15:39588621-39588621	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1567A>G; p.T523A; 15:39588621-39588621	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2253G>A; p.R751R; 15:39591190-39591190	skin	malignant_melanoma	Substitution - coding silent
c.1235G>A; p.R412Q; 15:39587461-39587461	skin	malignant_melanoma	Substitution - Missense
c.1478G>A; p.G493E; 15:39588532-39588532	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2770G>A; p.D924N; 15:39593002-39593002	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3022T>G; p.F1008V; 15:39593423-39593423	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.810C>T; p.C270C; 15:39584094-39584094	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3393C>T; p.I1131I; 15:39594328-39594328	skin	malignant_melanoma	Substitution - coding silent
c.2194_2195GA>TG; p.D732C; 15:39590564-39590565	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1728C>T; p.P576P; 15:39589041-39589041	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.184G>A; p.E62K; 15:39582309-39582309	skin	malignant_melanoma	Substitution - Missense
c.64C>T; p.P22S; 15:39581921-39581921	skin	malignant_melanoma	Substitution - Missense
c.2865C>T; p.T955T; 15:39593097-39593097	skin	malignant_melanoma	Substitution - coding silent
c.1872C>T; p.F624F; 15:39589300-39589300	skin	malignant_melanoma	Substitution - coding silent
c.1862C>A; p.P621H; 15:39589290-39589290	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.247C>T; p.R83W; 15:39582372-39582372	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3145G>A; p.D1049N; 15:39593546-39593546	skin; trunk	malignant_melanoma	Substitution - Missense
c.201delC; p.P69fs*26; 15:39582326-39582326	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.201delC; p.P69fs*26; 15:39582326-39582326	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1753C>T; p.Q585*; 15:39589066-39589066	skin	malignant_melanoma	Substitution - Nonsense
c.1839C>T; p.P613P; 15:39589267-39589267	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3001G>A; p.D1001N; 15:39593402-39593402	thyroid	carcinoma	Substitution - Missense
c.2573A>T; p.N858I; 15:39592608-39592608	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3169G>A; p.G1057R; 15:39593570-39593570	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1927-3C>T; p.?; 15:39589802-39589802	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2151T>C; p.N717N; 15:39590521-39590521	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3100C>T; p.R1034C; 15:39593501-39593501	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.1088T>G; p.V363G; 15:39585531-39585531	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3321C>T; p.A1107A; 15:39594152-39594152	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2478G>A; p.M826I; 15:39591569-39591569	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.163T>A; p.S55T; 15:39582288-39582288	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2252G>T; p.R751M; 15:39590622-39590622	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1137C>T; p.D379D; 15:39587363-39587363	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2866G>A; p.D956N; 15:39593098-39593098	skin	malignant_melanoma	Substitution - Missense
c.1938C>T; p.P646P; 15:39589816-39589816	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1077C>T; p.S359S; 15:39585520-39585520	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2029G>T; p.E677*; 15:39589907-39589907	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1891G>A; p.G631S; 15:39589319-39589319	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.944_945insG; p.P316fs*13; 15:39584340-39584341	liver	carcinoma	Insertion - Frameshift
c.2373T>C; p.N791N; 15:39591310-39591310	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2016C>G; p.P672P; 15:39589894-39589894	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.83A>G; p.N28S; 15:39582208-39582208	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1902C>T; p.V634V; 15:39589330-39589330	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1262G>A; p.R421Q; 15:39587488-39587488	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1902C>T; p.V634V; 15:39589330-39589330	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3271C>T; p.R1091C; 15:39594102-39594102	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3271C>T; p.R1091C; 15:39594102-39594102	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.575C>A; p.A192D; 15:39582700-39582700	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.3271C>T; p.R1091C; 15:39594102-39594102	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3366-5T>C; p.?; 15:39594296-39594296	pancreas	carcinoma	Unknown
c.1970G>T; p.C657F; 15:39589848-39589848	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.2476A>G; p.M826V; 15:39591567-39591567	breast	carcinoma	Substitution - Missense
c.3366-5T>C; p.?; 15:39594296-39594296	pancreas	carcinoma	Unknown
c.1472-9T>A; p.?; 15:39588517-39588517	liver	carcinoma	Unknown
c.1472-9T>A; p.?; 15:39588517-39588517	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.1674C>T; p.A558A; 15:39588987-39588987	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2387C>T; p.A796V; 15:39591324-39591324	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.439C>T; p.L147F; 15:39582564-39582564	skin	malignant_melanoma	Substitution - Missense
c.595A>T; p.I199F; 15:39582720-39582720	skin	malignant_melanoma	Substitution - Missense
c.2912C>T; p.S971F; 15:39593144-39593144	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2912C>T; p.S971F; 15:39593144-39593144	skin	malignant_melanoma	Substitution - Missense
c.645G>A; p.V215V; 15:39583634-39583634	skin	malignant_melanoma	Substitution - coding silent
c.1205G>A; p.R402H; 15:39587431-39587431	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1748G>A; p.G583D; 15:39589061-39589061	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2644C>T; p.Q882*; 15:39592679-39592679	central_nervous_system; brain	glioma	Substitution - Nonsense
c.1572C>T; p.P524P; 15:39588626-39588626	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.2940C>T; p.R980R; 15:39593172-39593172	breast	carcinoma	Substitution - coding silent
c.2989G>C; p.A997P; 15:39593221-39593221	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2003A>G; p.H668R; 15:39589881-39589881	prostate	carcinoma	Substitution - Missense
c.2878T>C; p.F960L; 15:39593110-39593110	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1413G>A; p.G471G; 15:39588160-39588160	skin	malignant_melanoma	Substitution - coding silent
c.1306G>A; p.G436S; 15:39588053-39588053	skin	malignant_melanoma	Substitution - Missense
c.2252+1G>T; p.?; 15:39590623-39590623	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.2330G>A; p.C777Y; 15:39591267-39591267	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.480G>A; p.V160V; 15:39582605-39582605	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2317C>T; p.R773C; 15:39591254-39591254	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1027-6C>T; p.?; 15:39585464-39585464	kidney	other; neoplasm	Unknown
c.1407G>A; p.M469I; 15:39588154-39588154	skin	malignant_melanoma	Substitution - Missense
c.793G>A; p.D265N; 15:39584077-39584077	skin	malignant_melanoma	Substitution - Missense
c.1407G>A; p.M469I; 15:39588154-39588154	thyroid	other; neoplasm	Substitution - Missense
c.2317C>T; p.R773C; 15:39591254-39591254	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1407G>A; p.M469I; 15:39588154-39588154	skin	malignant_melanoma	Substitution - Missense
c.201C>T; p.I67I; 15:39582326-39582326	skin	malignant_melanoma	Substitution - coding silent
c.421G>A; p.V141M; 15:39582546-39582546	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.201C>T; p.I67I; 15:39582326-39582326	skin	malignant_melanoma	Substitution - coding silent
c.1412G>A; p.G471E; 15:39588159-39588159	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3071G>A; p.G1024E; 15:39593472-39593472	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3324C>A; p.Y1108*; 15:39594155-39594155	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.1517T>C; p.V506A; 15:39588571-39588571	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2535G>A; p.L845L; 15:39592570-39592570	skin	malignant_melanoma	Substitution - coding silent
c.3159G>A; p.T1053T; 15:39593560-39593560	pancreas	carcinoma	Substitution - coding silent
c.2576A>C; p.N859T; 15:39592611-39592611	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2569G>A; p.D857N; 15:39592604-39592604	skin	malignant_melanoma	Substitution - Missense
c.416A>G; p.H139R; 15:39582541-39582541	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1472T>A; p.I491N; 15:39588526-39588526	breast	carcinoma	Substitution - Missense
c.1064T>C; p.I355T; 15:39585507-39585507	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3318C>G; p.T1106T; 15:39594149-39594149	breast	carcinoma	Substitution - coding silent
c.2543_2551ACTCAGACC>TTGT; p.D848fs*8; 15:39592578-39592586	bone; humerus	chondrosarcoma	Complex - frameshift
c.1981G>A; p.A661T; 15:39589859-39589859	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.816C>T; p.I272I; 15:39584100-39584100	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3229C>T; p.R1077W; 15:39593630-39593630	breast	carcinoma	Substitution - Missense
c.3229C>T; p.R1077W; 15:39593630-39593630	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.863G>A; p.R288H; 15:39584147-39584147	oesophagus	carcinoma	Substitution - Missense
c.1701T>C; p.D567D; 15:39589014-39589014	liver	carcinoma	Substitution - coding silent
c.863G>A; p.R288H; 15:39584147-39584147	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2758G>A; p.D920N; 15:39592793-39592793	skin; extremity	malignant_melanoma	Substitution - Missense
c.644T>C; p.V215A; 15:39583633-39583633	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1868G>A; p.R623H; 15:39589296-39589296	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.503A>G; p.Y168C; 15:39582628-39582628	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1701T>C; p.D567D; 15:39589014-39589014	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.838A>G; p.M280V; 15:39584122-39584122	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.77G>A; p.G26E; 15:39582202-39582202	skin	malignant_melanoma	Substitution - Missense
c.3125A>G; p.Q1042R; 15:39593526-39593526	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1940G>A; p.R647H; 15:39589818-39589818	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.2871C>T; p.F957F; 15:39593103-39593103	skin	malignant_melanoma	Substitution - coding silent
c.2011G>A; p.D671N; 15:39589889-39589889	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.253G>A; p.E85K; 15:39582378-39582378	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2011G>A; p.D671N; 15:39589889-39589889	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1646-1G>T; p.?; 15:39588958-39588958	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.3507T>C; p.D1169D; 15:39595363-39595363	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.603_604insG; p.V204fs*3; 15:39582728-39582729	pancreas	carcinoma; acinar_carcinoma	Insertion - Frameshift
c.291_293delGAA; p.K99delK; 15:39582416-39582418	breast	carcinoma	Deletion - In frame
c.151G>A; p.G51S; 15:39582276-39582276	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.1672G>T; p.A558S; 15:39588985-39588985	pancreas	carcinoma	Substitution - Missense
c.494C>T; p.A165V; 15:39582619-39582619	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3215C>A; p.P1072H; 15:39593616-39593616	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.597C>T; p.I199I; 15:39582722-39582722	skin	malignant_melanoma	Substitution - coding silent
c.597C>T; p.I199I; 15:39582722-39582722	skin	malignant_melanoma	Substitution - coding silent
c.2263_2264insCA; p.F756fs*208; 15:39591200-39591201	breast	carcinoma	Insertion - Frameshift
c.3049G>A; p.E1017K; 15:39593450-39593450	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3049G>A; p.E1017K; 15:39593450-39593450	skin	malignant_melanoma	Substitution - Missense
c.326G>A; p.R109Q; 15:39582451-39582451	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.14G>C; p.W5S; 15:39581871-39581871	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1516G>C; p.V506L; 15:39588570-39588570	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3365+2T>C; p.?; 15:39594198-39594198	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1024C>T; p.Q342*; 15:39584420-39584420	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.890G>T; p.S297I; 15:39584174-39584174	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1889T>G; p.F630C; 15:39589317-39589317	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1227C>T; p.L409L; 15:39587453-39587453	skin	malignant_melanoma	Substitution - coding silent
c.157G>A; p.D53N; 15:39582282-39582282	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.157G>A; p.D53N; 15:39582282-39582282	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3320C>T; p.A1107V; 15:39594151-39594151	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2691T>C; p.D897D; 15:39592726-39592726	breast	carcinoma	Substitution - coding silent
c.2757G>A; p.K919K; 15:39592792-39592792	skin	malignant_melanoma	Substitution - coding silent
c.3320C>T; p.A1107V; 15:39594151-39594151	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2265A>G; p.P755P; 15:39591202-39591202	central_nervous_system; brain	glioma	Substitution - coding silent
c.1860delC; p.P622fs*341; 15:39589288-39589288	thyroid	carcinoma; anaplastic_carcinoma	Deletion - Frameshift
c.2731A>G; p.R911G; 15:39592766-39592766	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.425C>T; p.S142F; 15:39582550-39582550	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.48T>G; p.C16W; 15:39581905-39581905	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2428C>T; p.R810W; 15:39591519-39591519	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1290G>A; p.K430K; 15:39587516-39587516	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1998G>A; p.L666L; 15:39589876-39589876	central_nervous_system; brain	glioma	Substitution - coding silent
c.1290G>A; p.K430K; 15:39587516-39587516	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2947G>T; p.G983C; 15:39593179-39593179	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.945T>A; p.P315P; 15:39584341-39584341	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.995C>T; p.T332I; 15:39584391-39584391	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1434G>A; p.A478A; 15:39588181-39588181	breast	carcinoma	Substitution - coding silent
c.3057C>T; p.D1019D; 15:39593458-39593458	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1120+1G>A; p.?; 15:39585564-39585564	stomach	carcinoma; adenocarcinoma	Unknown
c.3057C>T; p.D1019D; 15:39593458-39593458	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3406G>T; p.G1136*; 15:39594341-39594341	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1250C>A; p.S417*; 15:39587476-39587476	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.8T>C; p.L3P; 15:39581865-39581865	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.508_509GA>TT; p.D170F; 15:39582633-39582634	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1518C>A; p.V506V; 15:39588572-39588572	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1250C>T; p.S417L; 15:39587476-39587476	ovary	carcinoma; clear_cell_carcinoma	Substitution - Missense
c.1354G>A; p.G452S; 15:39588101-39588101	skin	malignant_melanoma	Substitution - Missense
c.1502G>A; p.W501*; 15:39588556-39588556	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3124C>T; p.Q1042*; 15:39593525-39593525	breast	carcinoma	Substitution - Nonsense
c.17G>T; p.G6V; 15:39581874-39581874	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1459G>C; p.D487H; 15:39588206-39588206	skin	malignant_melanoma	Substitution - Missense
c.663C>T; p.T221T; 15:39583652-39583652	skin	malignant_melanoma	Substitution - coding silent
c.1096G>A; p.G366R; 15:39585539-39585539	skin	malignant_melanoma	Substitution - Missense
c.544C>T; p.P182S; 15:39582669-39582669	skin	malignant_melanoma	Substitution - Missense
c.2901C>A; p.P967P; 15:39593133-39593133	skin	malignant_melanoma	Substitution - coding silent
c.1549C>T; p.R517C; 15:39588603-39588603	skin; scalp	malignant_melanoma	Substitution - Missense
c.1980C>T; p.N660N; 15:39589858-39589858	skin	malignant_melanoma	Substitution - coding silent
c.2043C>T; p.G681G; 15:39589921-39589921	skin	malignant_melanoma	Substitution - coding silent
c.2938C>T; p.R980C; 15:39593170-39593170	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2043C>T; p.G681G; 15:39589921-39589921	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.895C>T; p.R299C; 15:39584179-39584179	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1659C>T; p.S553S; 15:39588972-39588972	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1314G>A; p.W438*; 15:39588061-39588061	skin	malignant_melanoma	Substitution - Nonsense
c.137G>A; p.R46H; 15:39582262-39582262	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1314G>A; p.W438*; 15:39588061-39588061	skin	malignant_melanoma	Substitution - Nonsense
c.2319C>T; p.R773R; 15:39591256-39591256	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3159G>C; p.T1053T; 15:39593560-39593560	ovary	other; neoplasm	Substitution - coding silent
c.1126G>A; p.D376N; 15:39587352-39587352	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2737G>A; p.V913M; 15:39592772-39592772	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3182T>C; p.L1061P; 15:39593583-39593583	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1773G>A; p.E591E; 15:39589086-39589086	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.268C>T; p.L90F; 15:39582393-39582393	skin	malignant_melanoma	Substitution - Missense
c.1811G>A; p.G604E; 15:39589239-39589239	skin	malignant_melanoma	Substitution - Missense
c.2431G>A; p.D811N; 15:39591522-39591522	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.540C>T; p.D180D; 15:39582665-39582665	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.540C>T; p.D180D; 15:39582665-39582665	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.540C>T; p.D180D; 15:39582665-39582665	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3365+5G>T; p.?; 15:39594201-39594201	liver	carcinoma	Unknown
c.540C>T; p.D180D; 15:39582665-39582665	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1094A>G; p.D365G; 15:39585537-39585537	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1138G>A; p.D380N; 15:39587364-39587364	skin	malignant_melanoma	Substitution - Missense
c.1219G>A; p.D407N; 15:39587445-39587445	skin	malignant_melanoma	Substitution - Missense
c.1219G>A; p.D407N; 15:39587445-39587445	skin; scalp	malignant_melanoma	Substitution - Missense
c.3087C>T; p.Y1029Y; 15:39593488-39593488	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1953G>T; p.T651T; 15:39589831-39589831	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1628A>C; p.K543T; 15:39588682-39588682	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3315C>T; p.F1105F; 15:39594146-39594146	skin	malignant_melanoma	Substitution - coding silent
c.1218C>T; p.C406C; 15:39587444-39587444	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.940C>T; p.R314W; 15:39584336-39584336	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1590C>T; p.D530D; 15:39588644-39588644	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2173G>T; p.G725W; 15:39590543-39590543	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1406T>A; p.M469K; 15:39588153-39588153	thyroid	other; neoplasm	Substitution - Missense
c.556G>A; p.V186I; 15:39582681-39582681	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.556G>A; p.V186I; 15:39582681-39582681	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2288A>G; p.Y763C; 15:39591225-39591225	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 15:39588183-39588183	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2223C>T; p.D741D; 15:39590593-39590593	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.155C>T; p.P52L; 15:39582280-39582280	skin	malignant_melanoma	Substitution - Missense
c.1543C>T; p.R515C; 15:39588597-39588597	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.938G>T; p.R313M; 15:39584334-39584334	liver	carcinoma	Substitution - Missense
c.1675G>T; p.G559C; 15:39588988-39588988	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2907G>A; p.G969G; 15:39593139-39593139	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1762G>T; p.D588Y; 15:39589075-39589075	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.242C>A; p.A81D; 15:39582367-39582367	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1647T>C; p.D549D; 15:39588960-39588960	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3170G>A; p.G1057E; 15:39593571-39593571	skin	malignant_melanoma	Substitution - Missense
c.279C>T; p.S93S; 15:39582404-39582404	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.326G>T; p.R109L; 15:39582451-39582451	pancreas	other; adenoma	Substitution - Missense
c.1058G>A; p.C353Y; 15:39585501-39585501	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3406G>A; p.G1136R; 15:39594341-39594341	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.506T>C; p.I169T; 15:39582631-39582631	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2115C>T; p.C705C; 15:39589993-39589993	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1471+3A>G; p.?; 15:39588221-39588221	pancreas	carcinoma	Unknown
c.2921A>G; p.D974G; 15:39593153-39593153	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.11C>G; p.A4G; 15:39581868-39581868	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1557_1559delCAA; p.N521delN; 15:39588611-39588613	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - In frame
c.2232T>A; p.N744K; 15:39590602-39590602	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.610G>A; p.V204I; 15:39582735-39582735	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1193G>A; p.G398E; 15:39587419-39587419	liver	carcinoma	Substitution - Missense
c.3137C>T; p.S1046F; 15:39593538-39593538	skin	malignant_melanoma	Substitution - Missense
c.2099A>G; p.N700S; 15:39589977-39589977	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2099A>G; p.N700S; 15:39589977-39589977	breast	carcinoma	Substitution - Missense
c.2099A>G; p.N700S; 15:39589977-39589977	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2136C>A; p.H712Q; 15:39590014-39590014	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3120G>A; p.W1040*; 15:39593521-39593521	skin	malignant_melanoma	Substitution - Nonsense
c.2872C>T; p.R958C; 15:39593104-39593104	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.111C>T; p.T37T; 15:39582236-39582236	breast	carcinoma	Substitution - coding silent
c.1898G>A; p.G633D; 15:39589326-39589326	skin; mucosal	malignant_melanoma	Substitution - Missense
c.303G>A; p.R101R; 15:39582428-39582428	skin	malignant_melanoma	Substitution - coding silent
c.1202A>G; p.Q401R; 15:39587428-39587428	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2134C>T; p.H712Y; 15:39590012-39590012	skin	malignant_melanoma	Substitution - Missense
c.190G>A; p.A64T; 15:39582315-39582315	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2429G>A; p.R810Q; 15:39591520-39591520	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3101G>A; p.R1034H; 15:39593502-39593502	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.190G>A; p.A64T; 15:39582315-39582315	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3101G>A; p.R1034H; 15:39593502-39593502	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1257G>C; p.Q419H; 15:39587483-39587483	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense

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]