Entrez Gene

Basic Information
Gene ID	1910
Name	EDNRB
Synonymous	endothelin receptor type B;EDNRB;endothelin receptor type B
Definition	endothelin B receptor\|endothelin receptor non-selective type
Position	13q22
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 0.09.

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.863T>C; p.I288T; 13:77901146-77901146	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.721G>C; p.D241H; 13:77903236-77903236	urinary_tract; bladder	carcinoma	Substitution - Missense
c.189G>A; p.A63A; 13:77918385-77918385	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.420C>T; p.I140I; 13:77918154-77918154	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.189G>A; p.A63A; 13:77918385-77918385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.393C>G; p.C131W; 13:77918181-77918181	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.614C>T; p.S205F; 13:77903343-77903343	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1175G>C; p.R392T; 13:77899878-77899878	urinary_tract; bladder	carcinoma	Substitution - Missense
c.465C>A; p.I155I; 13:77918109-77918109	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.403G>A; p.G135S; 13:77918171-77918171	pancreas	carcinoma	Substitution - Missense
c.267G>A; p.P89P; 13:77918307-77918307	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.29G>T; p.R10L; 13:77918545-77918545	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1034T>C; p.L345P; 13:77900572-77900572	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1165G>A; p.V389M; 13:77899888-77899888	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1083G>T; p.L361F; 13:77900523-77900523	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.221G>A; p.G74E; 13:77918353-77918353	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1145A>T; p.N382I; 13:77899908-77899908	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.114G>A; p.P38P; 13:77918460-77918460	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.58G>A; p.G20S; 13:77918516-77918516	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.244C>T; p.P82S; 13:77918330-77918330	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.89G>A; p.G30D; 13:77918485-77918485	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.421G>A; p.A141T; 13:77918153-77918153	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1045C>G; p.L349V; 13:77900561-77900561	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.931T>C; p.L311L; 13:77901078-77901078	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.364C>T; p.L122F; 13:77918210-77918210	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.714A>G; p.I238M; 13:77903243-77903243	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.151A>G; p.K51E; 13:77918423-77918423	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.727A>G; p.I243V; 13:77903230-77903230	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.130G>A; p.E44K; 13:77918444-77918444	skin	malignant_melanoma	Substitution - Missense
c.130G>A; p.E44K; 13:77918444-77918444	skin	malignant_melanoma	Substitution - Missense
c.602G>A; p.R201Q; 13:77903355-77903355	large_intestine	adenoma	Substitution - Missense
c.759A>G; p.R253R; 13:77903198-77903198	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.447G>T; p.L149L; 13:77918127-77918127	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.471C>T; p.I157I; 13:77918103-77918103	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.788C>T; p.T263I; 13:77903169-77903169	urinary_tract; bladder	carcinoma	Substitution - Missense
c.757C>T; p.R253*; 13:77903200-77903200	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.757C>T; p.R253*; 13:77903200-77903200	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.248G>A; p.R83H; 13:77918326-77918326	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.248G>A; p.R83H; 13:77918326-77918326	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.248G>A; p.R83H; 13:77918326-77918326	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.429G>C; p.L143F; 13:77918145-77918145	pancreas	carcinoma	Substitution - Missense
c.666T>G; p.I222M; 13:77903291-77903291	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.966C>A; p.A322A; 13:77900640-77900640	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.791C>T; p.A264V; 13:77903166-77903166	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.951+4A>C; p.?; 13:77901054-77901054	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Unknown
c.493G>A; p.E165K; 13:77903598-77903598	skin	malignant_melanoma	Substitution - Missense
c.478T>C; p.Y160H; 13:77918096-77918096	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.557G>A; p.G186E; 13:77903534-77903534	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.685T>A; p.S229T; 13:77903272-77903272	breast	carcinoma	Substitution - Missense
c.230C>T; p.T77M; 13:77918344-77918344	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.230C>T; p.T77M; 13:77918344-77918344	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.831A>G; p.L277L; 13:77901178-77901178	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.831A>G; p.L277L; 13:77901178-77901178	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.846C>A; p.F282L; 13:77901163-77901163	pancreas	carcinoma	Substitution - Missense
c.140C>T; p.T47M; 13:77918434-77918434	NS	NS	Substitution - Missense
c.238T>C; p.S80P; 13:77918336-77918336	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1029G>A; p.R343R; 13:77900577-77900577	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.632G>A; p.G211E; 13:77903325-77903325	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.999C>G; p.A333A; 13:77900607-77900607	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.398G>A; p.R133Q; 13:77918176-77918176	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1163T>A; p.L388*; 13:77899890-77899890	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.126C>T; p.T42T; 13:77918448-77918448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.425G>A; p.S142N; 13:77918149-77918149	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.877delT; p.Y293fs*3; 13:77901132-77901132	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.42G>A; p.A14A; 13:77918532-77918532	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.266C>T; p.P89L; 13:77918308-77918308	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.877delT; p.Y293fs*3; 13:77901132-77901132	stomach	adenocarcinoma	Deletion - Frameshift
c.877delT; p.Y293fs*3; 13:77901132-77901132	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.24C>T; p.C8C; 13:77918550-77918550	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.266C>T; p.P89L; 13:77918308-77918308	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1284C>T; p.H428H; 13:77898245-77898245	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.877delT; p.Y293fs*3; 13:77901132-77901132	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.877delT; p.Y293fs*3; 13:77901132-77901132	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.877delT; p.Y293fs*3; 13:77901132-77901132	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1028G>A; p.R343K; 13:77900578-77900578	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1233A>G; p.K411K; 13:77898296-77898296	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.359C>A; p.S120Y; 13:77918215-77918215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.352G>A; p.G118R; 13:77918222-77918222	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.283G>A; p.E95K; 13:77918291-77918291	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9G>A; p.P3P; 13:77918565-77918565	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.519G>A; p.M173I; 13:77903572-77903572	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.9G>A; p.P3P; 13:77918565-77918565	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.9G>A; p.P3P; 13:77918565-77918565	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.787A>G; p.T263A; 13:77903170-77903170	breast	carcinoma	Substitution - Missense
c.772C>T; p.H258Y; 13:77903185-77903185	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.215C>T; p.P72L; 13:77918359-77918359	liver	carcinoma	Substitution - Missense
c.215C>T; p.P72L; 13:77918359-77918359	liver	carcinoma	Substitution - Missense
c.28C>T; p.R10C; 13:77918546-77918546	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.483G>A; p.K161K; 13:77918091-77918091	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.929C>A; p.A310D; 13:77901080-77901080	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.467C>T; p.P156L; 13:77918107-77918107	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.782A>C; p.Q261P; 13:77903175-77903175	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.984G>C; p.L328L; 13:77900622-77900622	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.291G>T; p.K97N; 13:77918283-77918283	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.314C>T; p.T105M; 13:77918260-77918260	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.913A>C; p.S305R; 13:77901096-77901096	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.664A>C; p.I222L; 13:77903293-77903293	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.712A>G; p.I238V; 13:77903245-77903245	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.876T>G; p.F292L; 13:77901133-77901133	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.717T>G; p.G239G; 13:77903240-77903240	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1106A>G; p.Y369C; 13:77899947-77899947	liver	carcinoma	Substitution - Missense
c.1106A>G; p.Y369C; 13:77899947-77899947	liver	carcinoma	Substitution - Missense
c.1106A>G; p.Y369C; 13:77899947-77899947	liver	carcinoma	Substitution - Missense
c.1267T>C; p.F423L; 13:77898262-77898262	thyroid	other; neoplasm	Substitution - Missense
c.86G>A; p.R29K; 13:77918488-77918488	skin	malignant_melanoma	Substitution - Missense
c.778G>A; p.V260I; 13:77903179-77903179	pancreas	carcinoma	Substitution - Missense
c.928G>T; p.A310S; 13:77901081-77901081	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.945A>T; p.L315L; 13:77901064-77901064	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1320C>G; p.S440R; 13:77898209-77898209	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1056G>C; p.Q352H; 13:77900550-77900550	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.113C>T; p.P38L; 13:77918461-77918461	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1202delT; p.L401fs*21; 13:77898327-77898327	skin; trunk	malignant_melanoma	Deletion - Frameshift
c.777C>T; p.P259P; 13:77903180-77903180	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.571A>T; p.S191C; 13:77903520-77903520	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.29G>A; p.R10H; 13:77918545-77918545	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1257G>A; p.S419S; 13:77898272-77898272	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.611C>T; p.A204V; 13:77903346-77903346	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.628A>G; p.K210E; 13:77903329-77903329	skin	malignant_melanoma	Substitution - Missense
c.484C>T; p.L162L; 13:77903607-77903607	ovary	other; neoplasm	Substitution - coding silent
c.5A>T; p.Q2L; 13:77918569-77918569	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.205G>A; p.A69T; 13:77918369-77918369	breast	carcinoma	Substitution - Missense
c.877_878insT; p.Y293fs*7; 13:77901131-77901132	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.336C>T; p.F112F; 13:77918238-77918238	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1110T>C; p.I370I; 13:77899943-77899943	breast	carcinoma	Substitution - coding silent
c.31G>A; p.A11T; 13:77918543-77918543	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1005C>A; p.C335*; 13:77900601-77900601	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.708A>G; p.E236E; 13:77903249-77903249	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.874T>C; p.F292L; 13:77901135-77901135	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.884T>C; p.L295P; 13:77901125-77901125	skin	malignant_melanoma	Substitution - Missense
c.1136C>T; p.S379F; 13:77899917-77899917	skin	malignant_melanoma	Substitution - Missense
c.686C>A; p.S229Y; 13:77903271-77903271	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.98C>T; p.P33L; 13:77918476-77918476	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1159T>C; p.Y387H; 13:77899894-77899894	breast	carcinoma	Substitution - Missense
c.1045C>A; p.L349I; 13:77900561-77900561	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.732G>A; p.T244T; 13:77903225-77903225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.38T>G; p.V13G; 13:77918536-77918536	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.190C>T; p.R64W; 13:77918384-77918384	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.801+8T>C; p.?; 13:77903148-77903148	liver	carcinoma	Unknown
c.684C>A; p.V228V; 13:77903273-77903273	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.801+8T>C; p.?; 13:77903148-77903148	liver	carcinoma	Unknown
c.354G>A; p.G118G; 13:77918220-77918220	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.282C>T; p.I94I; 13:77918292-77918292	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.282C>T; p.I94I; 13:77918292-77918292	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.601C>T; p.R201*; 13:77903356-77903356	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.171T>C; p.G57G; 13:77918403-77918403	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.553G>A; p.V185M; 13:77903538-77903538	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.553G>A; p.V185M; 13:77903538-77903538	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.165C>T; p.P55P; 13:77918409-77918409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.879T>G; p.Y293*; 13:77901130-77901130	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1013C>T; p.P338L; 13:77900593-77900593	skin	malignant_melanoma	Substitution - Missense
c.453C>T; p.I151I; 13:77918121-77918121	breast	carcinoma	Substitution - coding silent
c.453C>T; p.I151I; 13:77918121-77918121	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.650G>A; p.W217*; 13:77903307-77903307	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.781C>A; p.Q261K; 13:77903176-77903176	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.453C>T; p.I151I; 13:77918121-77918121	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.269G>A; p.C90Y; 13:77918305-77918305	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.574C>A; p.L192I; 13:77903517-77903517	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.258C>T; p.S86S; 13:77918316-77918316	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1179C>T; p.F393F; 13:77899874-77899874	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.586A>C; p.S196R; 13:77903505-77903505	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.448C>T; p.H150Y; 13:77918126-77918126	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.971C>A; p.T324N; 13:77900635-77900635	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.681G>T; p.V227V; 13:77903276-77903276	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.956G>A; p.R319Q; 13:77900650-77900650	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.561C>A; p.I187I; 13:77903530-77903530	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1039C>T; p.L347F; 13:77900567-77900567	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.41C>T; p.A14V; 13:77918533-77918533	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.41C>T; p.A14V; 13:77918533-77918533	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.41C>T; p.A14V; 13:77918533-77918533	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1086C>A; p.S362R; 13:77899967-77899967	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.161G>A; p.W54*; 13:77918413-77918413	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.243G>A; p.P81P; 13:77918331-77918331	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.27A>G; p.G9G; 13:77918547-77918547	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.149C>A; p.T50N; 13:77918425-77918425	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.495G>A; p.E165E; 13:77903596-77903596	skin	malignant_melanoma	Substitution - coding silent
c.707A>C; p.E236A; 13:77903250-77903250	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.893G>T; p.C298F; 13:77901116-77901116	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1079T>G; p.L360R; 13:77900527-77900527	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.454G>A; p.V152I; 13:77918120-77918120	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1079T>G; p.L360R; 13:77900527-77900527	stomach	adenocarcinoma	Substitution - Missense
c.1079T>G; p.L360R; 13:77900527-77900527	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.454G>A; p.V152I; 13:77918120-77918120	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1201T>G; p.L401V; 13:77898328-77898328	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1201T>G; p.L401V; 13:77898328-77898328	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.510A>T; p.G170G; 13:77903581-77903581	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.206C>T; p.A69V; 13:77918368-77918368	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.973G>A; p.V325I; 13:77900633-77900633	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.973G>A; p.V325I; 13:77900633-77900633	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.402C>T; p.N134N; 13:77918172-77918172	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent

Mutation summary in protein domains

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

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]