Entrez Gene

Basic Information
Gene ID	2047
Name	EPHB1
Synonymous	EPH receptor B1;EPHB1;EPH receptor B1
Definition	EK6\|EPH-like kinase 6\|eph tyrosine kinase 2\|ephrin type-B receptor 1\|neuronally-expressed EPH-related tyrosine kinase\|soluble EPHB1 variant 1\|tyrosine-protein kinase receptor EPH-2
Position	3q21-q23
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1382A>G; p.N461S; 3:135154236-135154236	stomach	carcinoma	Substitution - Missense
c.2511C>T; p.I837I; 3:135248330-135248330	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2418C>T; p.D806D; 3:135241219-135241219	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.2418C>T; p.D806D; 3:135241219-135241219	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2511C>T; p.I837I; 3:135248330-135248330	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2511C>T; p.I837I; 3:135248330-135248330	skin; arm	malignant_melanoma	Substitution - coding silent
c.2361T>C; p.P787P; 3:135241162-135241162	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1969T>G; p.Y657D; 3:135192662-135192662	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.63G>A; p.T21T; 3:134925820-134925820	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1375C>T; p.Q459*; 3:135154229-135154229	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - Nonsense
c.1375C>T; p.Q459*; 3:135154229-135154229	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.2230G>A; p.D744N; 3:135201573-135201573	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1169G>T; p.R390L; 3:135132921-135132921	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2653C>G; p.P885A; 3:135248472-135248472	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1802A>G; p.E601G; 3:135179902-135179902	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1090C>T; p.R364W; 3:135132842-135132842	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1090C>T; p.R364W; 3:135132842-135132842	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.966C>T; p.V322V; 3:135132718-135132718	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1642G>A; p.A548T; 3:135166024-135166024	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1665C>A; p.S555S; 3:135166047-135166047	breast	carcinoma	Substitution - coding silent
c.2619G>T; p.E873D; 3:135248438-135248438	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.687A>G; p.A229A; 3:134951934-134951934	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1232G>A; p.G411E; 3:135132984-135132984	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.508C>T; p.R170W; 3:134951755-134951755	skin	malignant_melanoma	Substitution - Missense
c.1309G>A; p.V437I; 3:135154163-135154163	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.86C>A; p.T29N; 3:134925843-134925843	prostate	carcinoma	Substitution - Missense
c.1959G>T; p.L653L; 3:135192652-135192652	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.622G>A; p.E208K; 3:134951869-134951869	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1309G>A; p.V437I; 3:135154163-135154163	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2093A>G; p.E698G; 3:135192786-135192786	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2530delC; p.P845fs*34; 3:135248349-135248349	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.245C>G; p.A82G; 3:134951492-134951492	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.398C>A; p.P133H; 3:134951645-134951645	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2201A>T; p.Y734F; 3:135201544-135201544	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1306A>C; p.T436P; 3:135154160-135154160	breast	carcinoma	Substitution - Missense
c.675C>T; p.C225C; 3:134951922-134951922	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1635G>A; p.S545S; 3:135166017-135166017	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2520C>T; p.D840D; 3:135248339-135248339	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1635G>A; p.S545S; 3:135166017-135166017	breast	carcinoma	Substitution - coding silent
c.446T>G; p.V149G; 3:134951693-134951693	breast	carcinoma	Substitution - Missense
c.1884G>A; p.G628G; 3:135192577-135192577	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.167G>A; p.R56H; 3:134951414-134951414	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2116G>A; p.D706N; 3:135192809-135192809	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1160C>T; p.T387M; 3:135132912-135132912	ovary	other; neoplasm	Substitution - Missense
c.1199C>T; p.T400I; 3:135132951-135132951	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1160C>T; p.T387M; 3:135132912-135132912	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1160C>T; p.T387M; 3:135132912-135132912	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1160C>T; p.T387M; 3:135132912-135132912	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.753G>A; p.G251G; 3:134952000-134952000	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1160C>T; p.T387M; 3:135132912-135132912	ovary	other; neoplasm	Substitution - Missense
c.601C>T; p.Q201*; 3:134951848-134951848	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1998G>C; p.L666L; 3:135192691-135192691	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2389G>A; p.A797T; 3:135241190-135241190	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.397C>T; p.P133S; 3:134951644-134951644	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1171G>T; p.V391F; 3:135132923-135132923	urinary_tract; bladder	carcinoma	Substitution - Missense
c.149delA; p.N51fs*2; 3:134951396-134951396	NS	NS	Deletion - Frameshift
c.2045G>A; p.R682H; 3:135192738-135192738	breast	carcinoma	Substitution - Missense
c.397C>T; p.P133S; 3:134951644-134951644	thyroid	carcinoma	Substitution - Missense
c.911G>T; p.R304L; 3:135106553-135106553	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.182G>A; p.C61Y; 3:134951429-134951429	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2571G>T; p.M857I; 3:135248390-135248390	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2228G>A; p.R743Q; 3:135201571-135201571	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2228G>A; p.R743Q; 3:135201571-135201571	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.1231G>A; p.G411R; 3:135132983-135132983	skin	malignant_melanoma	Substitution - Missense
c.372G>A; p.K124K; 3:134951619-134951619	skin	malignant_melanoma	Substitution - coding silent
c.1194C>T; p.A398A; 3:135132946-135132946	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2228G>A; p.R743Q; 3:135201571-135201571	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2228G>A; p.R743Q; 3:135201571-135201571	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.23T>A; p.L8Q; 3:134795654-134795654	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2947A>T; p.M983L; 3:135259112-135259112	breast	carcinoma	Substitution - Missense
c.553T>C; p.S185P; 3:134951800-134951800	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.553T>C; p.S185P; 3:134951800-134951800	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2259C>T; p.N753N; 3:135201602-135201602	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2259C>T; p.N753N; 3:135201602-135201602	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.685G>A; p.A229T; 3:134951932-134951932	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1657G>A; p.V553I; 3:135166039-135166039	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1657G>A; p.V553I; 3:135166039-135166039	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.528T>C; p.A176A; 3:134951775-134951775	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.528T>C; p.A176A; 3:134951775-134951775	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2416G>A; p.D806N; 3:135241217-135241217	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1700G>C; p.R567P; 3:135166947-135166947	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2416G>A; p.D806N; 3:135241217-135241217	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2343C>T; p.S781S; 3:135201686-135201686	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1938C>A; p.I646I; 3:135192631-135192631	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2343C>T; p.S781S; 3:135201686-135201686	skin	malignant_melanoma	Substitution - coding silent
c.2848G>A; p.D950N; 3:135259013-135259013	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2432G>A; p.G811E; 3:135241233-135241233	skin; back	malignant_melanoma	Substitution - Missense
c.437T>A; p.F146Y; 3:134951684-134951684	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.526G>A; p.A176T; 3:134951773-134951773	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.546C>A; p.A182A; 3:134951793-134951793	pancreas	carcinoma	Substitution - coding silent
c.311G>C; p.G104A; 3:134951558-134951558	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1220A>G; p.Q407R; 3:135132972-135132972	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1585G>A; p.D529N; 3:135162180-135162180	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1161G>C; p.T387T; 3:135132913-135132913	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.718T>A; p.C240S; 3:134951965-134951965	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2190T>C; p.A730A; 3:135201533-135201533	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.167G>T; p.R56L; 3:134951414-134951414	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2121T>C; p.S707S; 3:135192814-135192814	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2919G>T; p.R973S; 3:135259084-135259084	skin	malignant_melanoma	Substitution - Missense
c.2224C>A; p.H742N; 3:135201567-135201567	skin	malignant_melanoma	Substitution - Missense
c.500C>T; p.P167L; 3:134951747-134951747	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1769G>A; p.G590E; 3:135179869-135179869	skin	malignant_melanoma	Substitution - Missense
c.2399A>G; p.K800R; 3:135241200-135241200	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.47C>T; p.A16V; 3:134795678-134795678	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1034C>T; p.P345L; 3:135132786-135132786	skin	malignant_melanoma	Substitution - Missense
c.47C>T; p.A16V; 3:134795678-134795678	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.167G>C; p.R56P; 3:134951414-134951414	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2072G>A; p.R691Q; 3:135192765-135192765	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.417C>T; p.T139T; 3:134951664-134951664	skin	malignant_melanoma	Substitution - coding silent
c.1124A>G; p.D375G; 3:135132876-135132876	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1782C>G; p.Y594*; 3:135179882-135179882	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.818G>A; p.G273E; 3:135106460-135106460	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.818G>A; p.G273E; 3:135106460-135106460	skin	malignant_melanoma	Substitution - Missense
c.863C>A; p.P288H; 3:135106505-135106505	urinary_tract; bladder	carcinoma	Substitution - Missense
c.509G>A; p.R170Q; 3:134951756-134951756	skin	malignant_melanoma	Substitution - Missense
c.509G>A; p.R170Q; 3:134951756-134951756	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1168C>A; p.R390S; 3:135132920-135132920	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2746G>A; p.V916M; 3:135249391-135249391	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2746G>A; p.V916M; 3:135249391-135249391	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2644A>T; p.I882F; 3:135248463-135248463	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2228G>T; p.R743L; 3:135201571-135201571	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1756C>A; p.R586R; 3:135167003-135167003	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1757G>A; p.R586Q; 3:135167004-135167004	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.911G>A; p.R304Q; 3:135106553-135106553	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2593C>T; p.R865W; 3:135248412-135248412	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2593C>T; p.R865W; 3:135248412-135248412	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.691G>A; p.E231K; 3:134951938-134951938	skin	malignant_melanoma	Substitution - Missense
c.2906T>C; p.I969T; 3:135259071-135259071	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2218T>C; p.Y740H; 3:135201561-135201561	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2668A>G; p.T890A; 3:135248487-135248487	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.793G>T; p.V265L; 3:134952040-134952040	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.654G>A; p.L218L; 3:134951901-134951901	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.654G>A; p.L218L; 3:134951901-134951901	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.394G>A; p.A132T; 3:134951641-134951641	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1463C>A; p.T488N; 3:135162058-135162058	pancreas	carcinoma	Substitution - Missense
c.281G>A; p.R94K; 3:134951528-134951528	skin	malignant_melanoma	Substitution - Missense
c.1763C>T; p.S588F; 3:135179863-135179863	skin	malignant_melanoma	Substitution - Missense
c.1759+2T>G; p.?; 3:135167008-135167008	breast	carcinoma	Unknown
c.2362G>T; p.V788L; 3:135241163-135241163	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1112C>T; p.S371F; 3:135132864-135132864	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1578G>T; p.L526L; 3:135162173-135162173	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1332T>G; p.S444R; 3:135154186-135154186	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1341G>T; p.M447I; 3:135154195-135154195	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1839G>T; p.E613D; 3:135179939-135179939	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2299C>T; p.R767C; 3:135201642-135201642	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1412A>T; p.Y471F; 3:135154266-135154266	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2311G>A; p.D771N; 3:135201654-135201654	skin; abdomen	malignant_melanoma	Substitution - Missense
c.2311G>A; p.D771N; 3:135201654-135201654	skin; abdomen	malignant_melanoma	Substitution - Missense
c.55G>A; p.E19K; 3:134795686-134795686	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.10G>T; p.D4Y; 3:134795641-134795641	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1102C>T; p.R368W; 3:135132854-135132854	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.177G>T; p.Q59H; 3:134951424-134951424	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.62C>T; p.T21M; 3:134925819-134925819	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.815C>A; p.A272E; 3:135106457-135106457	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1664_1665CC>TT; p.S555F; 3:135166046-135166047	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1102C>T; p.R368W; 3:135132854-135132854	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.62C>T; p.T21M; 3:134925819-134925819	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1102C>T; p.R368W; 3:135132854-135132854	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2284G>A; p.D762N; 3:135201627-135201627	skin	malignant_melanoma	Substitution - Missense
c.408A>C; p.K136N; 3:134951655-134951655	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2284G>A; p.D762N; 3:135201627-135201627	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2666A>C; p.K889T; 3:135248485-135248485	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2284G>A; p.D762N; 3:135201627-135201627	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.526G>T; p.A176S; 3:134951773-134951773	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1925G>A; p.G642D; 3:135192618-135192618	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.526G>T; p.A176S; 3:134951773-134951773	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.9G>C; p.L3L; 3:134795640-134795640	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.238C>T; p.R80W; 3:134951485-134951485	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Missense
c.1859A>G; p.K620R; 3:135179959-135179959	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2615C>T; p.A872V; 3:135248434-135248434	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1519C>T; p.R507C; 3:135162114-135162114	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.364G>A; p.A122T; 3:134951611-134951611	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.976C>T; p.P326S; 3:135132728-135132728	skin	malignant_melanoma	Substitution - Missense
c.1519C>T; p.R507C; 3:135162114-135162114	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2848G>T; p.D950Y; 3:135259013-135259013	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2247C>A; p.N749K; 3:135201590-135201590	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.440C>T; p.S147F; 3:134951687-134951687	skin	malignant_melanoma	Substitution - Missense
c.440C>T; p.S147F; 3:134951687-134951687	skin	malignant_melanoma	Substitution - Missense
c.1154G>T; p.G385V; 3:135132906-135132906	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.295C>T; p.L99F; 3:134951542-134951542	skin	malignant_melanoma	Substitution - Missense
c.295C>T; p.L99F; 3:134951542-134951542	pancreas	carcinoma	Substitution - Missense
c.2518G>A; p.D840N; 3:135248337-135248337	prostate	carcinoma	Substitution - Missense
c.2008A>T; p.S670C; 3:135192701-135192701	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.334T>G; p.L112V; 3:134951581-134951581	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2568C>A; p.L856L; 3:135248387-135248387	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2120C>A; p.S707Y; 3:135192813-135192813	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.269G>A; p.R90H; 3:134951516-134951516	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.725G>T; p.G242V; 3:134951972-134951972	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1014C>T; p.I338I; 3:135132766-135132766	skin	malignant_melanoma	Substitution - coding silent
c.2258A>G; p.N753S; 3:135201601-135201601	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1209C>T; p.T403T; 3:135132961-135132961	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2207C>A; p.A736D; 3:135201550-135201550	breast	carcinoma	Substitution - Missense
c.2258A>G; p.N753S; 3:135201601-135201601	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1813G>A; p.E605K; 3:135179913-135179913	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1695-1G>A; p.?; 3:135166941-135166941	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1254delC; p.P420fs*28; 3:135133006-135133006	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1519C>G; p.R507G; 3:135162114-135162114	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1813G>A; p.E605K; 3:135179913-135179913	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2071C>T; p.R691W; 3:135192764-135192764	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1336A>G; p.T446A; 3:135154190-135154190	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1371G>A; p.P457P; 3:135154225-135154225	thyroid	carcinoma	Substitution - coding silent
c.1371G>A; p.P457P; 3:135154225-135154225	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2595G>T; p.R865R; 3:135248414-135248414	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1893A>G; p.G631G; 3:135192586-135192586	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2595G>T; p.R865R; 3:135248414-135248414	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.462G>A; p.R154R; 3:134951709-134951709	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1509G>A; p.V503V; 3:135162104-135162104	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.243G>A; p.G81G; 3:134951490-134951490	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1329C>G; p.V443V; 3:135154183-135154183	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.840A>C; p.E280D; 3:135106482-135106482	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1989G>A; p.R663R; 3:135192682-135192682	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.153C>T; p.N51N; 3:134951400-134951400	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2124C>T; p.F708F; 3:135192817-135192817	skin	malignant_melanoma	Substitution - coding silent
c.2732C>T; p.T911M; 3:135249377-135249377	pancreas	carcinoma	Substitution - Missense
c.569G>T; p.R190L; 3:134951816-134951816	prostate	carcinoma	Substitution - Missense
c.1139T>G; p.V380G; 3:135132891-135132891	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2809T>C; p.F937L; 3:135249454-135249454	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1684G>A; p.V562I; 3:135166066-135166066	large_intestine	adenoma	Substitution - Missense
c.945A>T; p.P315P; 3:135106587-135106587	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.704C>A; p.P235H; 3:134951951-134951951	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2177G>T; p.R726M; 3:135201520-135201520	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2757G>A; p.W919*; 3:135249402-135249402	skin; face	malignant_melanoma	Substitution - Nonsense
c.1641G>T; p.A547A; 3:135166023-135166023	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.545C>A; p.A182D; 3:134951792-134951792	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2820C>T; p.L940L; 3:135249465-135249465	skin	malignant_melanoma	Substitution - coding silent
c.2399A>C; p.K800T; 3:135241200-135241200	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2181C>A; p.G727G; 3:135201524-135201524	prostate	carcinoma	Substitution - coding silent
c.996C>G; p.I332M; 3:135132748-135132748	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.116C>T; p.A39V; 3:134925873-134925873	breast	carcinoma	Substitution - Missense
c.173A>G; p.Y58C; 3:134951420-134951420	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2333A>T; p.Y778F; 3:135201676-135201676	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1683C>T; p.I561I; 3:135166065-135166065	pancreas	carcinoma	Substitution - coding silent
c.521A>C; p.Y174S; 3:134951768-134951768	breast	carcinoma	Substitution - Missense
c.930G>A; p.A310A; 3:135106572-135106572	breast	carcinoma	Substitution - coding silent
c.726G>A; p.G242G; 3:134951973-134951973	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.665G>A; p.R222Q; 3:134951912-134951912	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.665G>A; p.R222Q; 3:134951912-134951912	skin	malignant_melanoma	Substitution - Missense
c.2040C>G; p.I680M; 3:135192733-135192733	pancreas	carcinoma	Substitution - Missense
c.513T>C; p.N171N; 3:134951760-134951760	liver	carcinoma	Substitution - coding silent
c.2243G>A; p.R748K; 3:135201586-135201586	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2817C>T; p.S939S; 3:135249462-135249462	skin	malignant_melanoma	Substitution - coding silent
c.192C>T; p.F64F; 3:134951439-134951439	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2764G>A; p.A922T; 3:135249409-135249409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2817C>T; p.S939S; 3:135249462-135249462	skin	malignant_melanoma	Substitution - coding silent
c.2764G>A; p.A922T; 3:135249409-135249409	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1988G>A; p.R663Q; 3:135192681-135192681	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.372G>T; p.K124N; 3:134951619-134951619	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.237G>C; p.R79R; 3:134951484-134951484	breast	carcinoma	Substitution - coding silent
c.1236C>G; p.V412V; 3:135132988-135132988	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - coding silent
c.1460A>T; p.Q487L; 3:135162055-135162055	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1234G>T; p.V412F; 3:135132986-135132986	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1317C>G; p.I439M; 3:135154171-135154171	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1249C>A; p.P417T; 3:135133001-135133001	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1091G>T; p.R364L; 3:135132843-135132843	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1167C>T; p.C389C; 3:135132919-135132919	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.979C>T; p.R327C; 3:135132731-135132731	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.996C>T; p.I332I; 3:135132748-135132748	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.235C>T; p.R79W; 3:134951482-134951482	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.235C>T; p.R79W; 3:134951482-134951482	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2166G>T; p.V722V; 3:135201509-135201509	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.235C>T; p.R79W; 3:134951482-134951482	skin; face	malignant_melanoma	Substitution - Missense
c.235C>T; p.R79W; 3:134951482-134951482	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1929G>C; p.K643N; 3:135192622-135192622	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2875G>T; p.A959S; 3:135259040-135259040	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2763C>T; p.S921S; 3:135249408-135249408	prostate	carcinoma	Substitution - coding silent
c.2763C>T; p.S921S; 3:135249408-135249408	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2763C>T; p.S921S; 3:135249408-135249408	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2139C>T; p.D713D; 3:135201482-135201482	pancreas	carcinoma	Substitution - coding silent
c.2139C>T; p.D713D; 3:135201482-135201482	breast	carcinoma	Substitution - coding silent
c.1827G>A; p.E609E; 3:135179927-135179927	liver	carcinoma	Substitution - coding silent
c.1827G>A; p.E609E; 3:135179927-135179927	liver	carcinoma	Substitution - coding silent
c.565G>T; p.V189F; 3:134951812-134951812	prostate	carcinoma	Substitution - Missense
c.2214G>A; p.M738I; 3:135201557-135201557	skin	malignant_melanoma	Substitution - Missense
c.2305C>A; p.L769I; 3:135201648-135201648	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2214G>A; p.M738I; 3:135201557-135201557	skin	malignant_melanoma	Substitution - Missense
c.610G>T; p.A204S; 3:134951857-134951857	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.2013C>G; p.I671M; 3:135192706-135192706	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2461G>A; p.G821R; 3:135241262-135241262	thyroid	carcinoma	Substitution - Missense
c.1162G>A; p.E388K; 3:135132914-135132914	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.527C>T; p.A176V; 3:134951774-134951774	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.31C>T; p.L11L; 3:134795662-134795662	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2283C>T; p.S761S; 3:135201626-135201626	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2283C>T; p.S761S; 3:135201626-135201626	pancreas	carcinoma	Substitution - coding silent
c.2283C>T; p.S761S; 3:135201626-135201626	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2283C>T; p.S761S; 3:135201626-135201626	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2283C>T; p.S761S; 3:135201626-135201626	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2135A>C; p.N712T; 3:135201478-135201478	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.117G>A; p.A39A; 3:134925874-134925874	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1724A>T; p.Y575F; 3:135166971-135166971	skin	malignant_melanoma	Substitution - Missense
c.2717C>G; p.S906C; 3:135249362-135249362	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2092G>T; p.E698*; 3:135192785-135192785	central_nervous_system; brain	glioma	Substitution - Nonsense
c.2092G>T; p.E698*; 3:135192785-135192785	central_nervous_system; brain	glioma	Substitution - Nonsense
c.2858G>A; p.R953K; 3:135259023-135259023	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1658T>A; p.V553D; 3:135166040-135166040	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2648G>A; p.R883Q; 3:135248467-135248467	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.237G>A; p.R79R; 3:134951484-134951484	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.910C>G; p.R304G; 3:135106552-135106552	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1824G>T; p.R608R; 3:135179924-135179924	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1548G>T; p.K516N; 3:135162143-135162143	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1297+1G>C; p.?; 3:135133050-135133050	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1209C>A; p.T403T; 3:135132961-135132961	pancreas	NS	Substitution - coding silent
c.435C>T; p.S145S; 3:134951682-134951682	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.435C>T; p.S145S; 3:134951682-134951682	thyroid	other; neoplasm	Substitution - coding silent
c.1209C>A; p.T403T; 3:135132961-135132961	pancreas	carcinoma	Substitution - coding silent
c.1198A>G; p.T400A; 3:135132950-135132950	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1169G>A; p.R390H; 3:135132921-135132921	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1509G>T; p.V503V; 3:135162104-135162104	skin	malignant_melanoma	Substitution - coding silent
c.2536C>T; p.P846S; 3:135248355-135248355	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1385G>A; p.G462D; 3:135154239-135154239	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2119T>A; p.S707T; 3:135192812-135192812	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2119T>A; p.S707T; 3:135192812-135192812	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1308C>G; p.T436T; 3:135154162-135154162	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2279T>C; p.V760A; 3:135201622-135201622	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1489C>T; p.R497W; 3:135162084-135162084	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2279T>C; p.V760A; 3:135201622-135201622	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.146A>G; p.D49G; 3:134951393-134951393	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.980G>A; p.R327H; 3:135132732-135132732	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1378C>A; p.P460T; 3:135154232-135154232	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.980G>A; p.R327H; 3:135132732-135132732	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.560T>A; p.L187H; 3:134951807-134951807	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1342A>G; p.R448G; 3:135154196-135154196	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1089C>T; p.C363C; 3:135132841-135132841	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.814G>A; p.A272T; 3:135106456-135106456	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.116C>A; p.A39E; 3:134925873-134925873	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1168C>T; p.R390C; 3:135132920-135132920	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.700G>A; p.V234M; 3:134951947-134951947	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1168C>T; p.R390C; 3:135132920-135132920	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1168C>T; p.R390C; 3:135132920-135132920	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2616G>A; p.A872A; 3:135248435-135248435	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2616G>A; p.A872A; 3:135248435-135248435	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2144A>T; p.Q715L; 3:135201487-135201487	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.568C>A; p.R190S; 3:134951815-134951815	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1843G>A; p.D615N; 3:135179943-135179943	skin	malignant_melanoma	Substitution - Missense
c.98G>A; p.G33D; 3:134925855-134925855	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.104C>T; p.T35M; 3:134925861-134925861	breast	carcinoma	Substitution - Missense
c.2619G>A; p.E873E; 3:135248438-135248438	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.104C>T; p.T35M; 3:134925861-134925861	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1271C>T; p.S424F; 3:135133023-135133023	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1833C>T; p.A611A; 3:135179933-135179933	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2173C>T; p.L725F; 3:135201516-135201516	pancreas	carcinoma	Substitution - Missense
c.1469C>A; p.T490K; 3:135162064-135162064	liver	carcinoma	Substitution - Missense
c.2615C>G; p.A872G; 3:135248434-135248434	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2173C>T; p.L725F; 3:135201516-135201516	pancreas	carcinoma	Substitution - Missense
c.697G>C; p.D233H; 3:134951944-134951944	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1201C>T; p.P401S; 3:135132953-135132953	skin	malignant_melanoma	Substitution - Missense
c.85A>G; p.T29A; 3:134925842-134925842	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.906C>G; p.T302T; 3:135106548-135106548	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1171G>A; p.V391I; 3:135132923-135132923	breast	carcinoma	Substitution - Missense
c.554C>G; p.S185C; 3:134951801-134951801	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1772T>C; p.M591T; 3:135179872-135179872	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.481G>T; p.E161*; 3:134951728-134951728	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2006C>T; p.A669V; 3:135192699-135192699	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2524C>T; p.R842W; 3:135248343-135248343	liver	carcinoma	Substitution - Missense
c.2253G>T; p.L751L; 3:135201596-135201596	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.268C>T; p.R90C; 3:134951515-134951515	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2436C>T; p.I812I; 3:135241237-135241237	skin	malignant_melanoma	Substitution - coding silent
c.2713C>T; p.R905C; 3:135249358-135249358	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.963C>T; p.S321S; 3:135132715-135132715	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1326A>G; p.Q442Q; 3:135154180-135154180	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2281T>C; p.S761P; 3:135201624-135201624	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2155A>G; p.I719V; 3:135201498-135201498	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2155A>G; p.I719V; 3:135201498-135201498	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1091G>A; p.R364Q; 3:135132843-135132843	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2281T>C; p.S761P; 3:135201624-135201624	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2155A>G; p.I719V; 3:135201498-135201498	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2281T>C; p.S761P; 3:135201624-135201624	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1091G>A; p.R364Q; 3:135132843-135132843	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1091G>A; p.R364Q; 3:135132843-135132843	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2702C>T; p.P901L; 3:135249347-135249347	skin; trunk	malignant_melanoma	Substitution - Missense
c.1142C>T; p.P381L; 3:135132894-135132894	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1449G>T; p.M483I; 3:135162044-135162044	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.241G>A; p.G81R; 3:134951488-134951488	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2227C>T; p.R743W; 3:135201570-135201570	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1161G>A; p.T387T; 3:135132913-135132913	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2162T>A; p.L721H; 3:135201505-135201505	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1161G>A; p.T387T; 3:135132913-135132913	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - coding silent
c.1161G>A; p.T387T; 3:135132913-135132913	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.610G>A; p.A204T; 3:134951857-134951857	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.891G>A; p.A297A; 3:135106533-135106533	breast	carcinoma	Substitution - coding silent
c.746C>A; p.P249H; 3:134951993-134951993	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.868A>C; p.N290H; 3:135106510-135106510	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1074C>T; p.I358I; 3:135132826-135132826	breast	carcinoma	Substitution - coding silent
c.2496+2T>G; p.?; 3:135241299-135241299	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1247G>T; p.S416I; 3:135132999-135132999	thyroid	other; neoplasm	Substitution - Missense
c.1872C>A; p.V624V; 3:135179972-135179972	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.88G>A; p.A30T; 3:134925845-134925845	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.733G>A; p.E245K; 3:134951980-134951980	skin	malignant_melanoma	Substitution - Missense
c.2748G>T; p.V916V; 3:135249393-135249393	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1176C>T; p.S392S; 3:135132928-135132928	skin	malignant_melanoma	Substitution - coding silent
c.1919T>A; p.L640Q; 3:135192612-135192612	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1176C>T; p.S392S; 3:135132928-135132928	skin	malignant_melanoma	Substitution - coding silent
c.778G>A; p.E260K; 3:134952025-134952025	skin	malignant_melanoma	Substitution - Missense
c.1490G>A; p.R497Q; 3:135162085-135162085	breast	carcinoma	Substitution - Missense
c.525C>T; p.L175L; 3:134951772-134951772	skin	malignant_melanoma	Substitution - coding silent
c.1253_1254insC; p.Q421fs*48; 3:135133005-135133006	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1545C>A; p.G515G; 3:135162140-135162140	prostate	carcinoma	Substitution - coding silent
c.1545C>A; p.G515G; 3:135162140-135162140	prostate	carcinoma	Substitution - coding silent
c.2T>A; p.M1K; 3:134795633-134795633	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2786G>T; p.R929M; 3:135249431-135249431	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.350C>A; p.T117N; 3:134951597-134951597	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1962G>A; p.K654K; 3:135192655-135192655	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2110G>A; p.A704T; 3:135192803-135192803	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1801G>T; p.E601*; 3:135179901-135179901	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2283C>A; p.S761S; 3:135201626-135201626	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2686G>A; p.A896T; 3:135248505-135248505	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1099C>T; p.R367C; 3:135132851-135132851	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.166C>A; p.R56S; 3:134951413-134951413	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2119T>C; p.S707P; 3:135192812-135192812	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2686G>A; p.A896T; 3:135248505-135248505	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2737T>A; p.F913I; 3:135249382-135249382	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2846+7G>C; p.?; 3:135249498-135249498	ovary	other; neoplasm	Unknown
c.2175C>G; p.L725L; 3:135201518-135201518	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2068A>G; p.S690G; 3:135192761-135192761	pancreas	carcinoma	Substitution - Missense
c.2594G>A; p.R865Q; 3:135248413-135248413	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1259delC; p.P420fs*28; 3:135133011-135133011	lung	carcinoma; non_small_cell_carcinoma	Deletion - Frameshift
c.1259delC; p.P420fs*28; 3:135133011-135133011	lung	carcinoma; non_small_cell_carcinoma	Deletion - Frameshift
c.1259delC; p.P420fs*28; 3:135133011-135133011	lung	carcinoma; non_small_cell_carcinoma	Deletion - Frameshift
c.1259delC; p.P420fs*28; 3:135133011-135133011	lung	carcinoma; non_small_cell_carcinoma	Deletion - Frameshift
c.1631G>T; p.G544V; 3:135166013-135166013	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1847T>C; p.V616A; 3:135179947-135179947	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1164G>T; p.E388D; 3:135132916-135132916	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2858G>T; p.R953I; 3:135259023-135259023	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1679C>T; p.S560F; 3:135166061-135166061	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2244G>T; p.R748S; 3:135201587-135201587	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2733G>T; p.T911T; 3:135249378-135249378	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1495G>A; p.G499S; 3:135162090-135162090	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1520G>A; p.R507H; 3:135162115-135162115	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.81G>A; p.T27T; 3:134925838-134925838	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1756C>T; p.R586*; 3:135167003-135167003	ovary	other; neoplasm	Substitution - Nonsense
c.1756C>T; p.R586*; 3:135167003-135167003	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2606C>A; p.P869H; 3:135248425-135248425	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1941C>T; p.Y647Y; 3:135192634-135192634	breast	carcinoma	Substitution - coding silent
c.144C>T; p.Y48Y; 3:134951391-134951391	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1115G>T; p.R372L; 3:135132867-135132867	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.144C>T; p.Y48Y; 3:134951391-134951391	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2008A>G; p.S670G; 3:135192701-135192701	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2008A>G; p.S670G; 3:135192701-135192701	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1115G>T; p.R372L; 3:135132867-135132867	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2714G>A; p.R905H; 3:135249359-135249359	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.805G>T; p.A269S; 3:134952052-134952052	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.162C>G; p.T54T; 3:134951409-134951409	breast	carcinoma	Substitution - coding silent
c.573C>T; p.V191V; 3:134951820-134951820	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2517G>T; p.Q839H; 3:135248336-135248336	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.634G>A; p.G212R; 3:134951881-134951881	skin	malignant_melanoma	Substitution - Missense
c.442C>A; p.Q148K; 3:134951689-134951689	skin	malignant_melanoma	Substitution - Missense
c.1218C>A; p.I406I; 3:135132970-135132970	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2626A>C; p.N876H; 3:135248445-135248445	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.650C>T; p.S217F; 3:134951897-134951897	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1770G>A; p.G590G; 3:135179870-135179870	skin	malignant_melanoma	Substitution - coding silent
c.964G>A; p.V322I; 3:135132716-135132716	pancreas	carcinoma	Substitution - Missense
c.964G>A; p.V322I; 3:135132716-135132716	pancreas	carcinoma	Substitution - Missense
c.755G>A; p.R252Q; 3:134952002-134952002	skin	malignant_melanoma	Substitution - Missense
c.964G>A; p.V322I; 3:135132716-135132716	pancreas	carcinoma	Substitution - Missense
c.964G>A; p.V322I; 3:135132716-135132716	pancreas	carcinoma	Substitution - Missense
c.964G>A; p.V322I; 3:135132716-135132716	pancreas	carcinoma	Substitution - Missense
c.2286C>A; p.D762E; 3:135201629-135201629	skin	malignant_melanoma	Substitution - Missense
c.964G>A; p.V322I; 3:135132716-135132716	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.964G>A; p.V322I; 3:135132716-135132716	pancreas	carcinoma	Substitution - Missense
c.317G>A; p.C106Y; 3:134951564-134951564	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2903G>T; p.S968I; 3:135259068-135259068	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2254G>A; p.V752I; 3:135201597-135201597	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1495G>T; p.G499C; 3:135162090-135162090	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.47C>A; p.A16D; 3:134795678-134795678	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1789C>A; p.P597T; 3:135179889-135179889	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.742G>A; p.V248M; 3:134951989-134951989	skin	malignant_melanoma	Substitution - Missense
c.2803G>A; p.A935T; 3:135249448-135249448	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2577C>A; p.D859E; 3:135248396-135248396	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.421G>T; p.A141S; 3:134951668-134951668	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1170C>T; p.R390R; 3:135132922-135132922	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1170C>T; p.R390R; 3:135132922-135132922	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.509G>T; p.R170L; 3:134951756-134951756	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.119C>T; p.S40F; 3:134925876-134925876	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.506C>T; p.T169I; 3:134951753-134951753	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.806-3T>C; p.?; 3:135106445-135106445	ovary	other; neoplasm	Unknown
c.1821C>T; p.V607V; 3:135179921-135179921	skin	malignant_melanoma	Substitution - coding silent
c.1720G>A; p.V574M; 3:135166967-135166967	breast	carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]