Entrez Gene

Basic Information
Gene ID	5335
Name	PLCG1
Synonymous	phospholipase C, gamma 1;PLCG1;phospholipase C, gamma 1
Definition	1-phosphatidyl-D-myo-inositol-4,5-bisphosphate\|1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1\|1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase gamma 1\|1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase gamma-1\|PLC-148\|PL
Position	20q12-q13.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2112C>T; p.I704I; 20:41166587-41166587	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1465T>C; p.S489P; 20:41165323-41165323	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1465T>C; p.S489P; 20:41165323-41165323	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1465T>C; p.S489P; 20:41165323-41165323	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2618G>A; p.R873Q; 20:41169494-41169494	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.732G>A; p.P244P; 20:41163218-41163218	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2648T>A; p.I883N; 20:41169524-41169524	breast	carcinoma	Substitution - Missense
c.332A>G; p.Y111C; 20:41159720-41159720	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2406C>G; p.Y802*; 20:41168793-41168793	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Nonsense
c.332A>G; p.Y111C; 20:41159720-41159720	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2319C>A; p.A773A; 20:41167869-41167869	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.652C>T; p.R218C; 20:41162696-41162696	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.808C>T; p.R270C; 20:41163396-41163396	skin	malignant_melanoma	Substitution - Missense
c.808C>T; p.R270C; 20:41163396-41163396	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1437G>T; p.M479I; 20:41165295-41165295	breast	carcinoma	Substitution - Missense
c.835A>G; p.S279G; 20:41163423-41163423	thyroid	other; neoplasm	Substitution - Missense
c.3029G>A; p.R1010H; 20:41172544-41172544	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.443C>A; p.P148H; 20:41159942-41159942	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2255T>A; p.L752Q; 20:41166813-41166813	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3785G>A; p.R1262H; 20:41174263-41174263	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.552C>T; p.V184V; 20:41162491-41162491	breast	carcinoma	Substitution - coding silent
c.2302-2A>G; p.?; 20:41167850-41167850	breast	carcinoma	Unknown
c.1787C>T; p.T596M; 20:41165814-41165814	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.879C>A; p.F293L; 20:41163467-41163467	liver	carcinoma	Substitution - Missense
c.3243C>T; p.S1081S; 20:41172841-41172841	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.879C>A; p.F293L; 20:41163467-41163467	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1773C>T; p.F591F; 20:41165800-41165800	oesophagus	carcinoma	Substitution - coding silent
c.3415G>T; p.V1139L; 20:41173672-41173672	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1076T>C; p.M359T; 20:41163986-41163986	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1218G>A; p.E406E; 20:41164933-41164933	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1913A>G; p.H638R; 20:41166307-41166307	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3461T>G; p.F1154C; 20:41173718-41173718	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2739C>T; p.A913A; 20:41170200-41170200	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2114C>G; p.S705C; 20:41166589-41166589	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3390T>C; p.F1130F; 20:41173530-41173530	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1736C>T; p.P579L; 20:41165763-41165763	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1901A>G; p.D634G; 20:41166295-41166295	skin	malignant_melanoma	Substitution - Missense
c.781T>C; p.Y261H; 20:41163267-41163267	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.611G>A; p.R204H; 20:41162655-41162655	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3681G>A; p.T1227T; 20:41174159-41174159	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1125G>A; p.M375I; 20:41164109-41164109	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.610C>T; p.R204C; 20:41162654-41162654	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2802C>T; p.D934D; 20:41170263-41170263	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.610C>T; p.R204C; 20:41162654-41162654	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2792A>T; p.Q931L; 20:41170253-41170253	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.975T>C; p.P325P; 20:41163798-41163798	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1353A>C; p.S451S; 20:41165068-41165068	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.322G>A; p.V108I; 20:41159710-41159710	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2011G>T; p.A671S; 20:41166486-41166486	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1892C>T; p.S631F; 20:41166286-41166286	skin; mucosal	malignant_melanoma	Substitution - Missense
c.841C>A; p.L281I; 20:41163429-41163429	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2983G>C; p.A995P; 20:41172498-41172498	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.2983G>C; p.A995P; 20:41172498-41172498	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.2983G>C; p.A995P; 20:41172498-41172498	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.2983G>C; p.A995P; 20:41172498-41172498	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1722C>T; p.I574I; 20:41165749-41165749	skin	malignant_melanoma	Substitution - coding silent
c.3033C>G; p.I1011M; 20:41172548-41172548	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1491G>A; p.L497L; 20:41165349-41165349	liver	carcinoma	Substitution - coding silent
c.2952G>A; p.P984P; 20:41172467-41172467	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3168G>A; p.T1056T; 20:41172766-41172766	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1765G>C; p.E589Q; 20:41165792-41165792	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1034C>T; p.S345F; 20:41163944-41163944	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.1034C>T; p.S345F; 20:41163944-41163944	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.1034C>T; p.S345F; 20:41163944-41163944	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.1034C>T; p.S345F; 20:41163944-41163944	haematopoietic_and_lymphoid_tissue; skin	lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome	Substitution - Missense
c.1034C>T; p.S345F; 20:41163944-41163944	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified	Substitution - Missense
c.1034C>T; p.S345F; 20:41163944-41163944	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.1034C>T; p.S345F; 20:41163944-41163944	haematopoietic_and_lymphoid_tissue; skin	lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome	Substitution - Missense
c.1034C>T; p.S345F; 20:41163944-41163944	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified	Substitution - Missense
c.1034C>T; p.S345F; 20:41163944-41163944	haematopoietic_and_lymphoid_tissue; skin	lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome	Substitution - Missense
c.1034C>T; p.S345F; 20:41163944-41163944	haematopoietic_and_lymphoid_tissue; skin	lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome	Substitution - Missense
c.1034C>T; p.S345F; 20:41163944-41163944	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.1034C>T; p.S345F; 20:41163944-41163944	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.3730C>T; p.R1244*; 20:41174208-41174208	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1034C>T; p.S345F; 20:41163944-41163944	haematopoietic_and_lymphoid_tissue; skin	lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome	Substitution - Missense
c.1034C>T; p.S345F; 20:41163944-41163944	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified	Substitution - Missense
c.3730C>T; p.R1244*; 20:41174208-41174208	breast	carcinoma	Substitution - Nonsense
c.1034C>T; p.S345F; 20:41163944-41163944	haematopoietic_and_lymphoid_tissue; skin	lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome	Substitution - Missense
c.1034C>T; p.S345F; 20:41163944-41163944	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified	Substitution - Missense
c.1034C>T; p.S345F; 20:41163944-41163944	haematopoietic_and_lymphoid_tissue; skin	lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome	Substitution - Missense
c.1034C>T; p.S345F; 20:41163944-41163944	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.1034C>T; p.S345F; 20:41163944-41163944	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.1034C>T; p.S345F; 20:41163944-41163944	haematopoietic_and_lymphoid_tissue; skin	lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome	Substitution - Missense
c.1034C>T; p.S345F; 20:41163944-41163944	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.1034C>T; p.S345F; 20:41163944-41163944	haematopoietic_and_lymphoid_tissue; skin	lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome	Substitution - Missense
c.1034C>T; p.S345F; 20:41163944-41163944	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified	Substitution - Missense
c.3358G>A; p.E1120K; 20:41173498-41173498	breast	carcinoma	Substitution - Missense
c.2112C>G; p.I704M; 20:41166587-41166587	genital_tract; extragonadal	germ_cell_tumour; seminoma	Substitution - Missense
c.2779C>T; p.R927C; 20:41170240-41170240	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2261A>G; p.Y754C; 20:41166819-41166819	central_nervous_system; brain	glioma	Substitution - Missense
c.2154G>A; p.Q718Q; 20:41166712-41166712	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.473G>A; p.R158Q; 20:41160114-41160114	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2249T>G; p.M750R; 20:41166807-41166807	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.958G>A; p.D320N; 20:41163781-41163781	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1725G>T; p.E575D; 20:41165752-41165752	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1921C>A; p.Q641K; 20:41166315-41166315	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1921C>A; p.Q641K; 20:41166315-41166315	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1921C>A; p.Q641K; 20:41166315-41166315	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1921C>A; p.Q641K; 20:41166315-41166315	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1921C>A; p.Q641K; 20:41166315-41166315	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1921C>A; p.Q641K; 20:41166315-41166315	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1921C>A; p.Q641K; 20:41166315-41166315	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3130+2T>C; p.?; 20:41172647-41172647	stomach	carcinoma; adenocarcinoma	Unknown
c.2139G>A; p.K713K; 20:41166697-41166697	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2951C>T; p.P984L; 20:41172466-41172466	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2030A>G; p.Q677R; 20:41166505-41166505	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.680C>T; p.T227M; 20:41162724-41162724	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.845G>A; p.R282Q; 20:41163433-41163433	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.717G>A; p.R239R; 20:41163203-41163203	pancreas	carcinoma	Substitution - coding silent
c.1744T>C; p.S582P; 20:41165771-41165771	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1638C>T; p.S546S; 20:41165665-41165665	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.669C>T; p.S223S; 20:41162713-41162713	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3278A>C; p.E1093A; 20:41172876-41172876	liver	carcinoma	Substitution - Missense
c.1728C>T; p.T576T; 20:41165755-41165755	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1728C>T; p.T576T; 20:41165755-41165755	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3000C>T; p.F1000F; 20:41172515-41172515	skin	malignant_melanoma	Substitution - coding silent
c.1182G>A; p.L394L; 20:41164166-41164166	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1111G>A; p.G371S; 20:41164095-41164095	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3457G>A; p.E1153K; 20:41173714-41173714	urinary_tract; bladder	carcinoma	Substitution - Missense
c.817G>A; p.V273M; 20:41163405-41163405	skin	malignant_melanoma	Substitution - Missense
c.3366C>T; p.D1122D; 20:41173506-41173506	lung	carcinoma; undifferentiated_carcinoma	Substitution - coding silent
c.2737G>A; p.A913T; 20:41170198-41170198	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3298C>G; p.L1100V; 20:41173438-41173438	pancreas	carcinoma	Substitution - Missense
c.182C>T; p.T61M; 20:41137823-41137823	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.477G>A; p.K159K; 20:41160118-41160118	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.791A>T; p.E264V; 20:41163379-41163379	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.1752C>T; p.L584L; 20:41165779-41165779	skin	malignant_melanoma	Substitution - coding silent
c.2814T>C; p.T938T; 20:41172198-41172198	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1825C>T; p.R609C; 20:41166219-41166219	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3667C>T; p.P1223S; 20:41174145-41174145	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3805G>A; p.A1269T; 20:41174283-41174283	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1467T>C; p.S489S; 20:41165325-41165325	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1467T>C; p.S489S; 20:41165325-41165325	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2774A>G; p.K925R; 20:41170235-41170235	breast	carcinoma	Substitution - Missense
c.2695A>G; p.I899V; 20:41170156-41170156	liver	carcinoma	Substitution - Missense
c.3008A>C; p.Y1003S; 20:41172523-41172523	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2695A>G; p.I899V; 20:41170156-41170156	liver	carcinoma	Substitution - Missense
c.3029G>T; p.R1010L; 20:41172544-41172544	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2879G>A; p.C960Y; 20:41172263-41172263	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1609G>A; p.E537K; 20:41165549-41165549	skin	malignant_melanoma	Substitution - Missense
c.2708C>T; p.S903L; 20:41170169-41170169	breast	carcinoma	Substitution - Missense
c.2316G>T; p.G772G; 20:41167866-41167866	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1635C>T; p.H545H; 20:41165662-41165662	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2686G>A; p.V896I; 20:41170147-41170147	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.511C>T; p.R171C; 20:41160152-41160152	skin	malignant_melanoma	Substitution - Missense
c.1954C>T; p.R652*; 20:41166348-41166348	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1742G>A; p.G581D; 20:41165769-41165769	pancreas	carcinoma	Substitution - Missense
c.2179G>A; p.G727R; 20:41166737-41166737	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2425G>A; p.E809K; 20:41168812-41168812	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3680C>T; p.T1227M; 20:41174158-41174158	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3014G>A; p.R1005Q; 20:41172529-41172529	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.496C>T; p.R166W; 20:41160137-41160137	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3758G>A; p.R1253H; 20:41174236-41174236	breast	carcinoma	Substitution - Missense
c.3014G>A; p.R1005Q; 20:41172529-41172529	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3680C>T; p.T1227M; 20:41174158-41174158	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.423G>T; p.M141I; 20:41159922-41159922	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.494A>T; p.D165V; 20:41160135-41160135	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1675C>T; p.R559C; 20:41165702-41165702	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.323T>C; p.V108A; 20:41159711-41159711	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1912C>T; p.H638Y; 20:41166306-41166306	liver	carcinoma	Substitution - Missense
c.323T>C; p.V108A; 20:41159711-41159711	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.653G>A; p.R218H; 20:41162697-41162697	breast	carcinoma	Substitution - Missense
c.3487G>A; p.E1163K; 20:41173744-41173744	central_nervous_system; brain	glioma	Substitution - Missense
c.3487G>A; p.E1163K; 20:41173744-41173744	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3069C>T; p.Y1023Y; 20:41172584-41172584	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.840C>T; p.F280F; 20:41163428-41163428	skin	malignant_melanoma	Substitution - coding silent
c.1322C>T; p.P441L; 20:41165037-41165037	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3487G>A; p.E1163K; 20:41173744-41173744	central_nervous_system; brain	glioma	Substitution - Missense
c.775C>G; p.L259V; 20:41163261-41163261	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3823C>T; p.R1275*; 20:41174301-41174301	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1799+2T>C; p.?; 20:41165828-41165828	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.944A>C; p.D315A; 20:41163767-41163767	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2412C>T; p.A804A; 20:41168799-41168799	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.589C>T; p.R197W; 20:41162528-41162528	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3223G>A; p.D1075N; 20:41172821-41172821	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.973C>T; p.P325S; 20:41163796-41163796	skin	malignant_melanoma	Substitution - Missense
c.973C>T; p.P325S; 20:41163796-41163796	skin	malignant_melanoma	Substitution - Missense
c.973C>T; p.P325S; 20:41163796-41163796	skin	malignant_melanoma	Substitution - Missense
c.864C>T; p.I288I; 20:41163452-41163452	skin	malignant_melanoma	Substitution - coding silent
c.3324G>A; p.V1108V; 20:41173464-41173464	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3565G>A; p.A1189T; 20:41173931-41173931	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2932C>T; p.R978W; 20:41172447-41172447	skin	malignant_melanoma	Substitution - Missense
c.2932C>T; p.R978W; 20:41172447-41172447	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2033C>T; p.A678V; 20:41166508-41166508	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2932C>T; p.R978W; 20:41172447-41172447	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1885T>G; p.F629V; 20:41166279-41166279	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.481T>C; p.F161L; 20:41160122-41160122	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1574G>T; p.S525I; 20:41165514-41165514	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3826G>A; p.E1276K; 20:41174304-41174304	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2890C>T; p.P964S; 20:41172274-41172274	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3771G>A; p.P1257P; 20:41174249-41174249	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.3771G>A; p.P1257P; 20:41174249-41174249	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1745C>G; p.S582C; 20:41165772-41165772	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1745C>G; p.S582C; 20:41165772-41165772	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1745C>G; p.S582C; 20:41165772-41165772	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.897C>A; p.V299V; 20:41163720-41163720	breast	carcinoma	Substitution - coding silent
c.993_995delCTC; p.S334delS; 20:41163816-41163818	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.3672C>T; p.F1224F; 20:41174150-41174150	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.979T>C; p.S327P; 20:41163802-41163802	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2197A>G; p.S733G; 20:41166755-41166755	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.245G>A; p.R82H; 20:41159633-41159633	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.614G>A; p.S205N; 20:41162658-41162658	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.866A>G; p.E289G; 20:41163454-41163454	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.789+1G>A; p.?; 20:41163276-41163276	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.3477C>T; p.F1159F; 20:41173734-41173734	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.866A>G; p.E289G; 20:41163454-41163454	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.789+1G>A; p.?; 20:41163276-41163276	stomach	adenocarcinoma	Unknown
c.1574G>C; p.S525T; 20:41165514-41165514	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2837G>A; p.R946K; 20:41172221-41172221	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.2120G>A; p.R707Q; 20:41166595-41166595	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.2120G>A; p.R707Q; 20:41166595-41166595	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.2120G>A; p.R707Q; 20:41166595-41166595	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.2120G>A; p.R707Q; 20:41166595-41166595	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.2120G>A; p.R707Q; 20:41166595-41166595	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.2120G>A; p.R707Q; 20:41166595-41166595	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.2669A>G; p.K890R; 20:41170130-41170130	skin	malignant_melanoma	Substitution - Missense
c.3092G>A; p.C1031Y; 20:41172607-41172607	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2723_2724CC>TT; p.S908F; 20:41170184-41170185	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.745G>A; p.V249M; 20:41163231-41163231	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3833G>A; p.R1278K; 20:41174311-41174311	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1722C>G; p.I574M; 20:41165749-41165749	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2782G>A; p.E928K; 20:41170243-41170243	ovary	other; neoplasm	Substitution - Missense
c.1765G>A; p.E589K; 20:41165792-41165792	pancreas	carcinoma	Substitution - Missense
c.2945C>T; p.S982F; 20:41172460-41172460	skin	malignant_melanoma	Substitution - Missense
c.2945C>T; p.S982F; 20:41172460-41172460	skin	malignant_melanoma	Substitution - Missense
c.106A>C; p.T36P; 20:41137747-41137747	kidney	other; neoplasm	Substitution - Missense
c.1347C>T; p.L449L; 20:41165062-41165062	skin	malignant_melanoma	Substitution - coding silent
c.262C>T; p.R88W; 20:41159650-41159650	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1597G>A; p.E533K; 20:41165537-41165537	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.43G>T; p.G15C; 20:41137684-41137684	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2803G>A; p.A935T; 20:41170264-41170264	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2803G>A; p.A935T; 20:41170264-41170264	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2193C>T; p.F731F; 20:41166751-41166751	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2193C>T; p.F731F; 20:41166751-41166751	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2193C>T; p.F731F; 20:41166751-41166751	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1559C>T; p.S520F; 20:41165499-41165499	haematopoietic_and_lymphoid_tissue; skin	lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome	Substitution - Missense
c.1791C>G; p.L597L; 20:41165818-41165818	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2657G>A; p.R886H; 20:41170118-41170118	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2147G>A; p.R716H; 20:41166705-41166705	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3535C>T; p.P1179S; 20:41173792-41173792	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.730C>T; p.P244S; 20:41163216-41163216	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2439C>T; p.I813I; 20:41168826-41168826	skin	malignant_melanoma	Substitution - coding silent
c.1753G>A; p.V585M; 20:41165780-41165780	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1230C>T; p.I410I; 20:41164945-41164945	skin	malignant_melanoma	Substitution - coding silent
c.2601C>T; p.P867P; 20:41169477-41169477	skin; nipple	malignant_melanoma	Substitution - coding silent
c.2146C>T; p.R716C; 20:41166704-41166704	skin	malignant_melanoma	Substitution - Missense
c.2705C>T; p.A902V; 20:41170166-41170166	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.883C>T; p.L295L; 20:41163471-41163471	skin	malignant_melanoma	Substitution - coding silent
c.530T>C; p.L177P; 20:41162469-41162469	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.771C>T; p.F257F; 20:41163257-41163257	skin	malignant_melanoma	Substitution - coding silent
c.2239T>C; p.Y747H; 20:41166797-41166797	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1319A>G; p.K440R; 20:41165034-41165034	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1073G>A; p.R358Q; 20:41163983-41163983	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3703G>C; p.D1235H; 20:41174181-41174181	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1994G>T; p.S665I; 20:41166388-41166388	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2484-7C>T; p.?; 20:41169072-41169072	urinary_tract; bladder	carcinoma	Unknown
c.1466C>G; p.S489C; 20:41165324-41165324	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3824G>A; p.R1275Q; 20:41174302-41174302	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3824G>A; p.R1275Q; 20:41174302-41174302	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1056C>A; p.A352A; 20:41163966-41163966	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3824G>A; p.R1275Q; 20:41174302-41174302	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1466C>G; p.S489C; 20:41165324-41165324	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1466C>G; p.S489C; 20:41165324-41165324	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1466C>G; p.S489C; 20:41165324-41165324	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2859C>G; p.L953L; 20:41172243-41172243	breast	carcinoma	Substitution - coding silent
c.2053G>A; p.V685I; 20:41166528-41166528	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2685C>T; p.F895F; 20:41170146-41170146	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2226G>A; p.E742E; 20:41166784-41166784	breast	carcinoma	Substitution - coding silent
c.956C>G; p.P319R; 20:41163779-41163779	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2322G>A; p.L774L; 20:41167872-41167872	liver	carcinoma	Substitution - coding silent
c.2322G>A; p.L774L; 20:41167872-41167872	liver	carcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]