Entrez Gene

Basic Information
Gene ID	219285
Name	SAMD9L
Synonymous	sterile alpha motif domain containing 9-like;SAMD9L;sterile alpha motif domain containing 9-like
Definition	SAM domain-containing protein 9-like\|sterile alpha motif domain-containing protein 9-like
Position	7q21.2
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 0.14.

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.1046C>T; p.S349F; 7:93134926-93134926	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1319G>A; p.W440*; 7:93134653-93134653	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1014T>A; p.N338K; 7:93134958-93134958	skin	malignant_melanoma	Substitution - Missense
c.4231C>G; p.R1411G; 7:93131741-93131741	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.599A>T; p.K200I; 7:93135373-93135373	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1204C>A; p.L402I; 7:93134768-93134768	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.367C>T; p.P123S; 7:93135605-93135605	skin	malignant_melanoma	Substitution - Missense
c.1465C>A; p.L489I; 7:93134507-93134507	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4540A>G; p.K1514E; 7:93131432-93131432	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1507G>T; p.D503Y; 7:93134465-93134465	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3857A>G; p.E1286G; 7:93132115-93132115	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.223T>A; p.L75M; 7:93135749-93135749	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.802A>G; p.I268V; 7:93135170-93135170	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4482G>T; p.E1494D; 7:93131490-93131490	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3940C>A; p.L1314I; 7:93132032-93132032	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1629T>G; p.F543L; 7:93134343-93134343	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1237T>A; p.Y413N; 7:93134735-93134735	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1842delA; p.I614fs*4; 7:93134130-93134130	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.642G>C; p.K214N; 7:93135330-93135330	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2018A>C; p.K673T; 7:93133954-93133954	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.981T>G; p.I327M; 7:93134991-93134991	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4638A>G; p.I1546M; 7:93131334-93131334	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.856G>T; p.E286*; 7:93135116-93135116	liver	carcinoma	Substitution - Nonsense
c.2343G>C; p.V781V; 7:93133629-93133629	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1909G>A; p.A637T; 7:93134063-93134063	prostate	carcinoma	Substitution - Missense
c.1485G>T; p.W495C; 7:93134487-93134487	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.856G>T; p.E286*; 7:93135116-93135116	liver	carcinoma	Substitution - Nonsense
c.4215G>A; p.T1405T; 7:93131757-93131757	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.856G>T; p.E286*; 7:93135116-93135116	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1898G>A; p.R633K; 7:93134074-93134074	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2277G>T; p.K759N; 7:93133695-93133695	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2240G>C; p.G747A; 7:93133732-93133732	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4224_4225insA; p.Q1409fs*49; 7:93131747-93131748	oesophagus	carcinoma; adenocarcinoma	Insertion - Frameshift
c.4224_4225insA; p.Q1409fs*49; 7:93131747-93131748	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.4224_4225insA; p.Q1409fs*49; 7:93131747-93131748	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3132C>G; p.R1044R; 7:93132840-93132840	prostate	carcinoma	Substitution - coding silent
c.2956C>T; p.R986C; 7:93133016-93133016	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4224_4225insA; p.Q1409fs*49; 7:93131747-93131748	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3985A>G; p.R1329G; 7:93131987-93131987	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3230G>A; p.R1077Q; 7:93132742-93132742	skin	malignant_melanoma	Substitution - Missense
c.3892C>G; p.R1298G; 7:93132080-93132080	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3892C>G; p.R1298G; 7:93132080-93132080	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3892C>G; p.R1298G; 7:93132080-93132080	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3997G>A; p.E1333K; 7:93131975-93131975	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3985A>G; p.R1329G; 7:93131987-93131987	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3604G>A; p.E1202K; 7:93132368-93132368	oesophagus	carcinoma	Substitution - Missense
c.2533C>T; p.P845S; 7:93133439-93133439	skin	malignant_melanoma	Substitution - Missense
c.2036T>G; p.F679C; 7:93133936-93133936	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4261C>A; p.H1421N; 7:93131711-93131711	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3987G>A; p.R1329R; 7:93131985-93131985	skin	malignant_melanoma	Substitution - coding silent
c.1766G>A; p.R589Q; 7:93134206-93134206	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.584C>T; p.P195L; 7:93135388-93135388	skin	malignant_melanoma	Substitution - Missense
c.3033T>C; p.I1011I; 7:93132939-93132939	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4484delA; p.Q1495fs*31; 7:93131488-93131488	lung	carcinoma	Deletion - Frameshift
c.3033T>C; p.I1011I; 7:93132939-93132939	skin	malignant_melanoma	Substitution - coding silent
c.3938G>A; p.C1313Y; 7:93132034-93132034	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3456C>T; p.L1152L; 7:93132516-93132516	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.2007C>T; p.I669I; 7:93133965-93133965	skin	malignant_melanoma	Substitution - coding silent
c.3930G>A; p.L1310L; 7:93132042-93132042	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.81T>C; p.L27L; 7:93135891-93135891	skin	malignant_melanoma	Substitution - coding silent
c.4225C>A; p.Q1409K; 7:93131747-93131747	skin	malignant_melanoma	Substitution - Missense
c.692C>T; p.S231L; 7:93135280-93135280	skin	malignant_melanoma	Substitution - Missense
c.406C>T; p.L136F; 7:93135566-93135566	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3902G>A; p.R1301K; 7:93132070-93132070	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2066G>A; p.R689Q; 7:93133906-93133906	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.828G>T; p.E276D; 7:93135144-93135144	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3833T>C; p.L1278P; 7:93132139-93132139	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2425G>A; p.E809K; 7:93133547-93133547	skin	malignant_melanoma	Substitution - Missense
c.1302T>G; p.F434L; 7:93134670-93134670	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1353G>T; p.M451I; 7:93134619-93134619	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.208C>T; p.R70C; 7:93135764-93135764	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1867A>C; p.K623Q; 7:93134105-93134105	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1619G>T; p.R540I; 7:93134353-93134353	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3203A>G; p.E1068G; 7:93132769-93132769	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1642C>A; p.L548I; 7:93134330-93134330	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.988G>T; p.D330Y; 7:93134984-93134984	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4224A>G; p.K1408K; 7:93131748-93131748	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3373C>G; p.Q1125E; 7:93132599-93132599	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1108T>G; p.L370V; 7:93134864-93134864	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2574T>C; p.N858N; 7:93133398-93133398	oesophagus	carcinoma	Substitution - coding silent
c.3801C>A; p.C1267*; 7:93132171-93132171	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3505C>A; p.Q1169K; 7:93132467-93132467	liver	carcinoma	Substitution - Missense
c.3505C>A; p.Q1169K; 7:93132467-93132467	liver	carcinoma	Substitution - Missense
c.956A>G; p.K319R; 7:93135016-93135016	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4072G>T; p.E1358*; 7:93131900-93131900	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.4406C>T; p.S1469F; 7:93131566-93131566	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4164T>A; p.I1388I; 7:93131808-93131808	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.237C>T; p.S79S; 7:93135735-93135735	skin	malignant_melanoma	Substitution - coding silent
c.371G>C; p.R124T; 7:93135601-93135601	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3221G>T; p.G1074V; 7:93132751-93132751	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2572A>C; p.N858H; 7:93133400-93133400	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.176_177insT; p.L60fs*18; 7:93135795-93135796	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3658G>T; p.E1220*; 7:93132314-93132314	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3371G>A; p.G1124D; 7:93132601-93132601	liver	carcinoma	Substitution - Missense
c.3371G>A; p.G1124D; 7:93132601-93132601	liver	carcinoma	Substitution - Missense
c.576C>T; p.L192L; 7:93135396-93135396	skin	malignant_melanoma	Substitution - coding silent
c.3113T>C; p.L1038P; 7:93132859-93132859	pancreas	carcinoma	Substitution - Missense
c.4296C>A; p.L1432L; 7:93131676-93131676	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2363G>T; p.R788M; 7:93133609-93133609	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2363G>T; p.R788M; 7:93133609-93133609	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2363G>T; p.R788M; 7:93133609-93133609	large_intestine; colon	carcinoma	Substitution - Missense
c.4361C>T; p.S1454F; 7:93131611-93131611	skin	malignant_melanoma	Substitution - Missense
c.2363G>T; p.R788M; 7:93133609-93133609	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2244C>T; p.T748T; 7:93133728-93133728	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2137G>A; p.D713N; 7:93133835-93133835	skin	malignant_melanoma	Substitution - Missense
c.3634C>T; p.Q1212*; 7:93132338-93132338	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3725C>T; p.P1242L; 7:93132247-93132247	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2040G>A; p.K680K; 7:93133932-93133932	liver	carcinoma	Substitution - coding silent
c.1353G>A; p.M451I; 7:93134619-93134619	skin	malignant_melanoma	Substitution - Missense
c.2631A>G; p.E877E; 7:93133341-93133341	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4098C>T; p.F1366F; 7:93131874-93131874	skin	malignant_melanoma	Substitution - coding silent
c.3685G>C; p.V1229L; 7:93132287-93132287	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3511G>C; p.D1171H; 7:93132461-93132461	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4604C>T; p.S1535F; 7:93131368-93131368	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1309G>A; p.E437K; 7:93134663-93134663	skin	malignant_melanoma	Substitution - Missense
c.2364G>T; p.R788S; 7:93133608-93133608	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1433C>A; p.T478N; 7:93134539-93134539	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1037G>A; p.G346E; 7:93134935-93134935	liver	carcinoma	Substitution - Missense
c.1037G>A; p.G346E; 7:93134935-93134935	liver	carcinoma	Substitution - Missense
c.4192A>G; p.K1398E; 7:93131780-93131780	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.411G>A; p.M137I; 7:93135561-93135561	skin	malignant_melanoma	Substitution - Missense
c.1571A>C; p.E524A; 7:93134401-93134401	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3913G>A; p.E1305K; 7:93132059-93132059	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4716C>T; p.S1572S; 7:93131256-93131256	skin	malignant_melanoma	Substitution - coding silent
c.1537G>A; p.E513K; 7:93134435-93134435	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3320G>A; p.R1107H; 7:93132652-93132652	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4236G>T; p.E1412D; 7:93131736-93131736	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3320G>A; p.R1107H; 7:93132652-93132652	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2320T>G; p.F774V; 7:93133652-93133652	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.4360T>C; p.S1454P; 7:93131612-93131612	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3506A>T; p.Q1169L; 7:93132466-93132466	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.866T>C; p.F289S; 7:93135106-93135106	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3320G>A; p.R1107H; 7:93132652-93132652	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4738G>C; p.D1580H; 7:93131234-93131234	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3320G>A; p.R1107H; 7:93132652-93132652	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.866T>C; p.F289S; 7:93135106-93135106	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1631delT; p.L544fs*2; 7:93134341-93134341	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2482C>T; p.R828*; 7:93133490-93133490	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2482C>T; p.R828*; 7:93133490-93133490	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.2482C>T; p.R828*; 7:93133490-93133490	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.1496A>G; p.N499S; 7:93134476-93134476	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1742C>T; p.S581F; 7:93134230-93134230	skin	malignant_melanoma	Substitution - Missense
c.4570C>T; p.R1524C; 7:93131402-93131402	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2604T>C; p.A868A; 7:93133368-93133368	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3562C>T; p.R1188*; 7:93132410-93132410	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.1742C>T; p.S581F; 7:93134230-93134230	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4570C>T; p.R1524C; 7:93131402-93131402	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1206C>T; p.L402L; 7:93134766-93134766	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1527T>G; p.Y509*; 7:93134445-93134445	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.872A>G; p.E291G; 7:93135100-93135100	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3562C>T; p.R1188*; 7:93132410-93132410	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.63delA; p.K21fs*3; 7:93135909-93135909	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3562C>T; p.R1188*; 7:93132410-93132410	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Nonsense
c.3768C>T; p.H1256H; 7:93132204-93132204	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.3725C>A; p.P1242H; 7:93132247-93132247	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2472A>C; p.E824D; 7:93133500-93133500	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3227G>A; p.R1076K; 7:93132745-93132745	skin	malignant_melanoma	Substitution - Missense
c.2784C>T; p.L928L; 7:93133188-93133188	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3882G>C; p.K1294N; 7:93132090-93132090	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2456A>G; p.H819R; 7:93133516-93133516	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2676G>A; p.M892I; 7:93133296-93133296	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3670T>A; p.S1224T; 7:93132302-93132302	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3531C>T; p.T1177T; 7:93132441-93132441	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.247G>C; p.D83H; 7:93135725-93135725	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.734C>T; p.P245L; 7:93135238-93135238	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3210C>A; p.V1070V; 7:93132762-93132762	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2577C>A; p.Y859*; 7:93133395-93133395	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2156A>C; p.K719T; 7:93133816-93133816	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3023A>T; p.K1008I; 7:93132949-93132949	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4585G>A; p.A1529T; 7:93131387-93131387	skin	malignant_melanoma	Substitution - Missense
c.3700G>A; p.G1234R; 7:93132272-93132272	skin	malignant_melanoma	Substitution - Missense
c.4101A>G; p.L1367L; 7:93131871-93131871	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2166A>G; p.I722M; 7:93133806-93133806	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4101A>G; p.L1367L; 7:93131871-93131871	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.191C>T; p.P64L; 7:93135781-93135781	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2757A>G; p.A919A; 7:93133215-93133215	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2122G>A; p.D708N; 7:93133850-93133850	skin	malignant_melanoma	Substitution - Missense
c.1539A>C; p.E513D; 7:93134433-93134433	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.980T>C; p.I327T; 7:93134992-93134992	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1216C>T; p.R406*; 7:93134756-93134756	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2122G>A; p.D708N; 7:93133850-93133850	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3893G>A; p.R1298H; 7:93132079-93132079	oesophagus	carcinoma	Substitution - Missense
c.3893G>A; p.R1298H; 7:93132079-93132079	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2222A>T; p.H741L; 7:93133750-93133750	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4007G>T; p.R1336I; 7:93131965-93131965	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.4007G>T; p.R1336I; 7:93131965-93131965	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1926A>G; p.S642S; 7:93134046-93134046	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.284C>T; p.P95L; 7:93135688-93135688	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1128T>C; p.S376S; 7:93134844-93134844	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.667C>T; p.R223*; 7:93135305-93135305	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1128T>C; p.S376S; 7:93134844-93134844	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4547delA; p.N1516fs*10; 7:93131425-93131425	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4547delA; p.N1516fs*10; 7:93131425-93131425	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.3646T>C; p.F1216L; 7:93132326-93132326	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3646T>C; p.F1216L; 7:93132326-93132326	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.4547delA; p.N1516fs*10; 7:93131425-93131425	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4547delA; p.N1516fs*10; 7:93131425-93131425	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3269G>A; p.R1090K; 7:93132703-93132703	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.4547delA; p.N1516fs*10; 7:93131425-93131425	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4547delA; p.N1516fs*10; 7:93131425-93131425	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3646T>C; p.F1216L; 7:93132326-93132326	pancreas	carcinoma	Substitution - Missense
c.3125G>T; p.R1042I; 7:93132847-93132847	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1993A>G; p.T665A; 7:93133979-93133979	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3776A>T; p.N1259I; 7:93132196-93132196	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2926G>A; p.V976I; 7:93133046-93133046	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4245A>G; p.Q1415Q; 7:93131727-93131727	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.712C>T; p.H238Y; 7:93135260-93135260	skin	malignant_melanoma	Substitution - Missense
c.1652C>T; p.S551F; 7:93134320-93134320	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.63_64insA; p.W22fs*4; 7:93135908-93135909	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1837A>T; p.N613Y; 7:93134135-93134135	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.462T>G; p.G154G; 7:93135510-93135510	pancreas	carcinoma	Substitution - coding silent
c.462T>G; p.G154G; 7:93135510-93135510	pancreas	carcinoma	Substitution - coding silent
c.1657_1658insG; p.V553fs*10; 7:93134314-93134315	ovary	carcinoma; serous_carcinoma	Insertion - Frameshift
c.2894G>A; p.G965E; 7:93133078-93133078	skin	malignant_melanoma	Substitution - Missense
c.1522A>G; p.T508A; 7:93134450-93134450	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.462T>G; p.G154G; 7:93135510-93135510	pancreas	carcinoma	Substitution - coding silent
c.3200T>C; p.I1067T; 7:93132772-93132772	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3200T>C; p.I1067T; 7:93132772-93132772	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2358C>G; p.T786T; 7:93133614-93133614	oesophagus	carcinoma	Substitution - coding silent
c.3484G>A; p.A1162T; 7:93132488-93132488	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3200T>C; p.I1067T; 7:93132772-93132772	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3200T>C; p.I1067T; 7:93132772-93132772	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1476G>A; p.Q492Q; 7:93134496-93134496	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1756A>G; p.I586V; 7:93134216-93134216	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1077G>A; p.R359R; 7:93134895-93134895	skin	malignant_melanoma	Substitution - coding silent
c.1790G>A; p.R597K; 7:93134182-93134182	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1790G>A; p.R597K; 7:93134182-93134182	skin	malignant_melanoma	Substitution - Missense
c.2461G>A; p.V821I; 7:93133511-93133511	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3350C>T; p.S1117F; 7:93132622-93132622	skin	malignant_melanoma	Substitution - Missense
c.3350C>T; p.S1117F; 7:93132622-93132622	skin	malignant_melanoma	Substitution - Missense
c.2468C>T; p.A823V; 7:93133504-93133504	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4224delA; p.K1408fs*10; 7:93131748-93131748	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2065C>T; p.R689*; 7:93133907-93133907	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1523C>G; p.T508R; 7:93134449-93134449	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.3350C>T; p.S1117F; 7:93132622-93132622	skin	malignant_melanoma	Substitution - Missense
c.4514C>T; p.S1505F; 7:93131458-93131458	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1877C>T; p.S626L; 7:93134095-93134095	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4252G>T; p.G1418*; 7:93131720-93131720	skin	malignant_melanoma	Substitution - Nonsense
c.1877C>T; p.S626L; 7:93134095-93134095	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3973G>A; p.E1325K; 7:93131999-93131999	skin	malignant_melanoma	Substitution - Missense
c.3733G>A; p.E1245K; 7:93132239-93132239	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4514C>T; p.S1505F; 7:93131458-93131458	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.4390A>G; p.K1464E; 7:93131582-93131582	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3733G>A; p.E1245K; 7:93132239-93132239	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3206A>G; p.K1069R; 7:93132766-93132766	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3054G>T; p.E1018D; 7:93132918-93132918	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3733G>A; p.E1245K; 7:93132239-93132239	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2876G>T; p.S959I; 7:93133096-93133096	oesophagus	carcinoma	Substitution - Missense
c.1114T>C; p.S372P; 7:93134858-93134858	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.963C>T; p.F321F; 7:93135009-93135009	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1777C>A; p.L593I; 7:93134195-93134195	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1695G>A; p.W565*; 7:93134277-93134277	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.2014G>A; p.D672N; 7:93133958-93133958	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2092T>C; p.F698L; 7:93133880-93133880	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2092T>C; p.F698L; 7:93133880-93133880	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1339G>A; p.D447N; 7:93134633-93134633	skin	malignant_melanoma	Substitution - Missense
c.3285A>G; p.K1095K; 7:93132687-93132687	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.4503A>C; p.Q1501H; 7:93131469-93131469	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3836A>T; p.K1279I; 7:93132136-93132136	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2299T>C; p.L767L; 7:93133673-93133673	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3337G>T; p.A1113S; 7:93132635-93132635	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.624C>A; p.A208A; 7:93135348-93135348	pancreas	carcinoid-endocrine_tumour	Substitution - coding silent
c.3923G>C; p.C1308S; 7:93132049-93132049	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.963C>G; p.F321L; 7:93135009-93135009	breast	carcinoma	Substitution - Missense
c.295G>A; p.E99K; 7:93135677-93135677	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2957G>A; p.R986H; 7:93133015-93133015	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2957G>A; p.R986H; 7:93133015-93133015	pancreas	carcinoma	Substitution - Missense
c.4377C>T; p.F1459F; 7:93131595-93131595	skin	malignant_melanoma	Substitution - coding silent
c.2239G>T; p.G747C; 7:93133733-93133733	skin; leg	malignant_melanoma; superficial_spreading	Substitution - Missense
c.160G>A; p.D54N; 7:93135812-93135812	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2889G>T; p.K963N; 7:93133083-93133083	liver	carcinoma	Substitution - Missense
c.4284C>A; p.F1428L; 7:93131688-93131688	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1187T>C; p.L396P; 7:93134785-93134785	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.823A>T; p.S275C; 7:93135149-93135149	liver	carcinoma	Substitution - Missense
c.382G>C; p.D128H; 7:93135590-93135590	skin	malignant_melanoma	Substitution - Missense
c.55G>C; p.V19L; 7:93135917-93135917	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2752G>A; p.E918K; 7:93133220-93133220	skin	malignant_melanoma	Substitution - Missense
c.4005G>C; p.L1335L; 7:93131967-93131967	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2752G>A; p.E918K; 7:93133220-93133220	skin	malignant_melanoma	Substitution - Missense
c.4122G>T; p.K1374N; 7:93131850-93131850	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1518C>T; p.S506S; 7:93134454-93134454	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3776delA; p.N1259fs*6; 7:93132196-93132196	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1334A>G; p.E445G; 7:93134638-93134638	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4005G>C; p.L1335L; 7:93131967-93131967	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.4529G>A; p.G1510E; 7:93131443-93131443	skin	malignant_melanoma	Substitution - Missense
c.2883A>C; p.E961D; 7:93133089-93133089	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.853C>T; p.R285W; 7:93135119-93135119	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4158C>T; p.A1386A; 7:93131814-93131814	skin	malignant_melanoma	Substitution - coding silent
c.1033G>A; p.E345K; 7:93134939-93134939	skin	malignant_melanoma	Substitution - Missense
c.4087G>T; p.E1363*; 7:93131885-93131885	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.853C>T; p.R285W; 7:93135119-93135119	breast	carcinoma	Substitution - Missense
c.853C>T; p.R285W; 7:93135119-93135119	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3036A>G; p.A1012A; 7:93132936-93132936	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2872G>A; p.E958K; 7:93133100-93133100	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3457C>T; p.L1153L; 7:93132515-93132515	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.278C>T; p.S93L; 7:93135694-93135694	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2263C>T; p.L755F; 7:93133709-93133709	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.161A>G; p.D54G; 7:93135811-93135811	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2378A>G; p.Q793R; 7:93133594-93133594	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.161A>G; p.D54G; 7:93135811-93135811	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.161A>G; p.D54G; 7:93135811-93135811	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1678C>T; p.L560F; 7:93134294-93134294	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.723C>T; p.V241V; 7:93135249-93135249	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.197T>G; p.L66R; 7:93135775-93135775	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4276C>T; p.P1426S; 7:93131696-93131696	skin	malignant_melanoma	Substitution - Missense
c.3112C>G; p.L1038V; 7:93132860-93132860	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4691G>A; p.R1564K; 7:93131281-93131281	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1120G>A; p.V374I; 7:93134852-93134852	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1765C>T; p.R589*; 7:93134207-93134207	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.4639C>T; p.P1547S; 7:93131333-93131333	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1765C>T; p.R589*; 7:93134207-93134207	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4515C>T; p.S1505S; 7:93131457-93131457	skin	malignant_melanoma	Substitution - coding silent
c.2488G>A; p.E830K; 7:93133484-93133484	skin	malignant_melanoma	Substitution - Missense
c.2488G>A; p.E830K; 7:93133484-93133484	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1762C>T; p.Q588*; 7:93134210-93134210	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1762C>T; p.Q588*; 7:93134210-93134210	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1762C>T; p.Q588*; 7:93134210-93134210	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.3473A>G; p.K1158R; 7:93132499-93132499	pancreas	carcinoma	Substitution - Missense
c.1694G>T; p.W565L; 7:93134278-93134278	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2192C>T; p.P731L; 7:93133780-93133780	skin	malignant_melanoma	Substitution - Missense
c.3473A>G; p.K1158R; 7:93132499-93132499	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.209G>A; p.R70H; 7:93135763-93135763	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1861A>G; p.I621V; 7:93134111-93134111	oesophagus	carcinoma	Substitution - Missense
c.500C>A; p.P167H; 7:93135472-93135472	skin	malignant_melanoma	Substitution - Missense
c.4640C>A; p.P1547Q; 7:93131332-93131332	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1717G>A; p.G573R; 7:93134255-93134255	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1689T>G; p.T563T; 7:93134283-93134283	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4649C>T; p.S1550F; 7:93131323-93131323	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1800G>A; p.M600I; 7:93134172-93134172	skin	malignant_melanoma	Substitution - Missense
c.1995A>G; p.T665T; 7:93133977-93133977	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3724C>T; p.P1242S; 7:93132248-93132248	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3658G>A; p.E1220K; 7:93132314-93132314	skin	malignant_melanoma	Substitution - Missense
c.4297C>T; p.L1433L; 7:93131675-93131675	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.415G>A; p.E139K; 7:93135557-93135557	skin	malignant_melanoma	Substitution - Missense
c.1442G>C; p.W481S; 7:93134530-93134530	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4121delA; p.K1374fs*3; 7:93131851-93131851	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3493G>A; p.E1165K; 7:93132479-93132479	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2965C>T; p.H989Y; 7:93133007-93133007	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4388A>G; p.Y1463C; 7:93131584-93131584	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1153G>A; p.G385R; 7:93134819-93134819	skin	malignant_melanoma	Substitution - Missense
c.3493G>T; p.E1165*; 7:93132479-93132479	breast	carcinoma	Substitution - Nonsense
c.1153G>A; p.G385R; 7:93134819-93134819	skin	malignant_melanoma	Substitution - Missense
c.4264C>G; p.Q1422E; 7:93131708-93131708	skin	malignant_melanoma	Substitution - Missense
c.2903C>A; p.S968Y; 7:93133069-93133069	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3145G>A; p.D1049N; 7:93132827-93132827	skin; trunk	malignant_melanoma	Substitution - Missense
c.877C>T; p.L293F; 7:93135095-93135095	skin	malignant_melanoma	Substitution - Missense
c.3131G>C; p.R1044P; 7:93132841-93132841	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.118G>T; p.E40*; 7:93135854-93135854	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.256G>T; p.D86Y; 7:93135716-93135716	large_intestine; rectum	NS	Substitution - Missense
c.1368C>A; p.V456V; 7:93134604-93134604	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2795T>C; p.V932A; 7:93133177-93133177	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2751G>T; p.K917N; 7:93133221-93133221	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.482T>C; p.L161S; 7:93135490-93135490	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.466C>G; p.L156V; 7:93135506-93135506	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.597C>T; p.F199F; 7:93135375-93135375	skin	malignant_melanoma	Substitution - coding silent
c.2696C>T; p.T899I; 7:93133276-93133276	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3689A>T; p.Q1230L; 7:93132283-93132283	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2306_2307insA; p.N769fs*5; 7:93133665-93133666	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.4675G>A; p.G1559S; 7:93131297-93131297	skin	malignant_melanoma	Substitution - Missense
c.4149C>T; p.S1383S; 7:93131823-93131823	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1498G>A; p.G500S; 7:93134474-93134474	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1881G>T; p.V627V; 7:93134091-93134091	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.4149C>T; p.S1383S; 7:93131823-93131823	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.4026A>G; p.G1342G; 7:93131946-93131946	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1489T>C; p.F497L; 7:93134483-93134483	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2117C>T; p.S706F; 7:93133855-93133855	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2151G>A; p.K717K; 7:93133821-93133821	skin	malignant_melanoma	Substitution - coding silent
c.2855G>C; p.S952T; 7:93133117-93133117	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3606A>G; p.E1202E; 7:93132366-93132366	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2483G>A; p.R828Q; 7:93133489-93133489	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.186G>A; p.W62*; 7:93135786-93135786	skin	malignant_melanoma	Substitution - Nonsense
c.2872G>C; p.E958Q; 7:93133100-93133100	breast	carcinoma	Substitution - Missense
c.2483G>A; p.R828Q; 7:93133489-93133489	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1906C>T; p.P636S; 7:93134066-93134066	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.999G>A; p.W333*; 7:93134973-93134973	skin	malignant_melanoma	Substitution - Nonsense
c.985A>G; p.K329E; 7:93134987-93134987	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4307C>T; p.P1436L; 7:93131665-93131665	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1015C>T; p.L339F; 7:93134957-93134957	skin; trunk	malignant_melanoma	Substitution - Missense
c.3617A>T; p.Y1206F; 7:93132355-93132355	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1394C>T; p.A465V; 7:93134578-93134578	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.871G>A; p.E291K; 7:93135101-93135101	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3603A>G; p.I1201M; 7:93132369-93132369	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1812A>G; p.L604L; 7:93134160-93134160	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2668A>G; p.M890V; 7:93133304-93133304	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3168C>T; p.S1056S; 7:93132804-93132804	skin	malignant_melanoma	Substitution - coding silent
c.1529A>C; p.K510T; 7:93134443-93134443	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3716C>T; p.P1239L; 7:93132256-93132256	skin	malignant_melanoma	Substitution - Missense
c.3168C>T; p.S1056S; 7:93132804-93132804	skin	malignant_melanoma	Substitution - coding silent
c.556G>A; p.E186K; 7:93135416-93135416	skin	malignant_melanoma	Substitution - Missense
c.3130C>A; p.R1044S; 7:93132842-93132842	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4231C>T; p.R1411*; 7:93131741-93131741	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1432A>G; p.T478A; 7:93134540-93134540	breast	carcinoma	Substitution - Missense
c.4231C>T; p.R1411*; 7:93131741-93131741	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4231C>T; p.R1411*; 7:93131741-93131741	skin	malignant_melanoma	Substitution - Nonsense
c.1863C>T; p.I621I; 7:93134109-93134109	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.728A>G; p.D243G; 7:93135244-93135244	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2737G>A; p.D913N; 7:93133235-93133235	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.888C>A; p.N296K; 7:93135084-93135084	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4715C>T; p.S1572F; 7:93131257-93131257	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4715C>T; p.S1572F; 7:93131257-93131257	skin	malignant_melanoma	Substitution - Missense
c.4715C>T; p.S1572F; 7:93131257-93131257	skin	malignant_melanoma	Substitution - Missense
c.3718C>T; p.P1240S; 7:93132254-93132254	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2763C>T; p.L921L; 7:93133209-93133209	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3718C>T; p.P1240S; 7:93132254-93132254	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3718C>T; p.P1240S; 7:93132254-93132254	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2658T>G; p.F886L; 7:93133314-93133314	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1956C>T; p.V652V; 7:93134016-93134016	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1650C>G; p.L550L; 7:93134322-93134322	breast	carcinoma	Substitution - coding silent
c.668G>A; p.R223Q; 7:93135304-93135304	skin	malignant_melanoma	Substitution - Missense
c.668G>A; p.R223Q; 7:93135304-93135304	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.668G>A; p.R223Q; 7:93135304-93135304	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3435T>A; p.T1145T; 7:93132537-93132537	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3931G>A; p.D1311N; 7:93132041-93132041	skin	malignant_melanoma	Substitution - Missense
c.3929T>C; p.L1310S; 7:93132043-93132043	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4670G>A; p.R1557K; 7:93131302-93131302	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3929T>C; p.L1310S; 7:93132043-93132043	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4670G>A; p.R1557K; 7:93131302-93131302	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3931G>A; p.D1311N; 7:93132041-93132041	skin	malignant_melanoma	Substitution - Missense
c.4591G>A; p.G1531S; 7:93131381-93131381	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2208C>T; p.I736I; 7:93133764-93133764	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4720G>A; p.E1574K; 7:93131252-93131252	skin	malignant_melanoma	Substitution - Missense
c.4720G>A; p.E1574K; 7:93131252-93131252	skin	malignant_melanoma	Substitution - Missense
c.2208C>T; p.I736I; 7:93133764-93133764	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2208C>T; p.I736I; 7:93133764-93133764	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1387C>T; p.R463W; 7:93134585-93134585	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.694C>T; p.R232C; 7:93135278-93135278	pancreas	carcinoma	Substitution - Missense
c.3524A>G; p.Y1175C; 7:93132448-93132448	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4393C>T; p.R1465C; 7:93131579-93131579	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4072G>A; p.E1358K; 7:93131900-93131900	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1339G>C; p.D447H; 7:93134633-93134633	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.349T>C; p.S117P; 7:93135623-93135623	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.689A>C; p.N230T; 7:93135283-93135283	skin	malignant_melanoma	Substitution - Missense
c.1050G>A; p.R350R; 7:93134922-93134922	skin	malignant_melanoma	Substitution - coding silent
c.2113T>C; p.Y705H; 7:93133859-93133859	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4661G>C; p.G1554A; 7:93131311-93131311	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1078G>A; p.D360N; 7:93134894-93134894	skin; trunk	malignant_melanoma	Substitution - Missense
c.1907C>T; p.P636L; 7:93134065-93134065	skin	malignant_melanoma	Substitution - Missense
c.351T>C; p.S117S; 7:93135621-93135621	liver	carcinoma	Substitution - coding silent
c.1276C>T; p.P426S; 7:93134696-93134696	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3829C>A; p.L1277I; 7:93132143-93132143	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.351T>C; p.S117S; 7:93135621-93135621	liver	carcinoma	Substitution - coding silent
c.3181G>A; p.A1061T; 7:93132791-93132791	skin	malignant_melanoma	Substitution - Missense
c.1014T>G; p.N338K; 7:93134958-93134958	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1015C>A; p.L339I; 7:93134957-93134957	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2553G>A; p.L851L; 7:93133419-93133419	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3672C>A; p.S1224S; 7:93132300-93132300	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2338C>A; p.Q780K; 7:93133634-93133634	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2864G>T; p.W955L; 7:93133108-93133108	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1134A>G; p.K378K; 7:93134838-93134838	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2207T>G; p.I736S; 7:93133765-93133765	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3688C>T; p.Q1230*; 7:93132284-93132284	kidney	other; neoplasm	Substitution - Nonsense
c.3688C>T; p.Q1230*; 7:93132284-93132284	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Nonsense
c.3688C>T; p.Q1230*; 7:93132284-93132284	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.857A>T; p.E286V; 7:93135115-93135115	liver	carcinoma	Substitution - Missense
c.857A>T; p.E286V; 7:93135115-93135115	liver	carcinoma	Substitution - Missense
c.4510A>G; p.N1504D; 7:93131462-93131462	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1019C>T; p.S340L; 7:93134953-93134953	skin	malignant_melanoma	Substitution - Missense
c.857A>T; p.E286V; 7:93135115-93135115	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.102G>A; p.G34G; 7:93135870-93135870	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2055A>G; p.E685E; 7:93133917-93133917	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2895A>T; p.G965G; 7:93133077-93133077	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.358G>C; p.D120H; 7:93135614-93135614	breast	carcinoma	Substitution - Missense
c.1414C>A; p.Q472K; 7:93134558-93134558	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3097C>T; p.H1033Y; 7:93132875-93132875	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4696T>C; p.S1566P; 7:93131276-93131276	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2522G>T; p.R841I; 7:93133450-93133450	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3167C>T; p.S1056F; 7:93132805-93132805	skin	malignant_melanoma	Substitution - Missense
c.3167C>T; p.S1056F; 7:93132805-93132805	skin	malignant_melanoma	Substitution - Missense
c.3167C>T; p.S1056F; 7:93132805-93132805	skin	malignant_melanoma	Substitution - Missense
c.2893G>T; p.G965*; 7:93133079-93133079	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1345G>A; p.E449K; 7:93134627-93134627	skin	malignant_melanoma	Substitution - Missense
c.3167C>T; p.S1056F; 7:93132805-93132805	skin; mucosal	malignant_melanoma	Substitution - Missense
c.4001C>A; p.A1334D; 7:93131971-93131971	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1051G>T; p.D351Y; 7:93134921-93134921	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2460C>T; p.S820S; 7:93133512-93133512	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1051G>A; p.D351N; 7:93134921-93134921	skin	malignant_melanoma	Substitution - Missense
c.4509A>T; p.T1503T; 7:93131463-93131463	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2460C>T; p.S820S; 7:93133512-93133512	skin	malignant_melanoma	Substitution - coding silent
c.2460C>T; p.S820S; 7:93133512-93133512	skin	malignant_melanoma	Substitution - coding silent
c.3817G>C; p.D1273H; 7:93132155-93132155	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4559A>C; p.D1520A; 7:93131413-93131413	breast	carcinoma	Substitution - Missense
c.3420C>T; p.N1140N; 7:93132552-93132552	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2221C>T; p.H741Y; 7:93133751-93133751	breast	carcinoma	Substitution - Missense
c.327G>A; p.K109K; 7:93135645-93135645	skin	malignant_melanoma	Substitution - coding silent
c.3405G>A; p.L1135L; 7:93132567-93132567	skin	malignant_melanoma	Substitution - coding silent
c.2533C>A; p.P845T; 7:93133439-93133439	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.547C>G; p.L183V; 7:93135425-93135425	breast	carcinoma	Substitution - Missense
c.3563G>A; p.R1188Q; 7:93132409-93132409	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2459C>T; p.S820F; 7:93133513-93133513	skin	malignant_melanoma	Substitution - Missense
c.3361G>A; p.D1121N; 7:93132611-93132611	skin	malignant_melanoma	Substitution - Missense
c.1894A>G; p.R632G; 7:93134078-93134078	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.445A>G; p.K149E; 7:93135527-93135527	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1174G>A; p.E392K; 7:93134798-93134798	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1723G>A; p.E575K; 7:93134249-93134249	skin	malignant_melanoma	Substitution - Missense
c.843G>T; p.K281N; 7:93135129-93135129	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1174G>A; p.E392K; 7:93134798-93134798	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1723G>A; p.E575K; 7:93134249-93134249	skin	malignant_melanoma	Substitution - Missense
c.1790G>C; p.R597T; 7:93134182-93134182	ovary	carcinoma; serous_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]