Entrez Gene

Basic Information
Gene ID	2120
Name	ETV6
Synonymous	ets variant 6;ETV6;ets variant 6
Definition	ETS translocation variant 6\|ETS-related protein Tel1\|TEL1 oncogene\|ets variant gene 6 (TEL oncogene)\|transcription factor ETV6
Position	12p13
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 0.20.

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.1148A>G; p.H383R; 12:11884583-11884583	liver	carcinoma	Substitution - Missense
c.1148A>G; p.H383R; 12:11884583-11884583	liver	carcinoma	Substitution - Missense
c.1157G>T; p.R386I; 12:11885930-11885930	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.580C>G; p.P194A; 12:11869540-11869540	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.808C>T; p.P270S; 12:11869768-11869768	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.156G>A; p.A52A; 12:11752572-11752572	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1083G>A; p.E361E; 12:11884518-11884518	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.831_832insCT; p.I278fs*3; 12:11869791-11869792	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - Frameshift
c.721G>A; p.E241K; 12:11869681-11869681	skin	malignant_melanoma	Substitution - Missense
c.308_309insCTAT; p.R105fs*8; 12:11839284-11839285	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.305_306insTGTG; p.R103fs*10; 12:11839281-11839282	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.135_136delAG; p.D46fs*19; 12:11752551-11752552	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1132C>T; p.R378*; 12:11884567-11884567	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Nonsense
c.916C>T; p.L306F; 12:11869876-11869876	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1132C>T; p.R378*; 12:11884567-11884567	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.56C>A; p.P19H; 12:11752472-11752472	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1039C>T; p.Q347*; 12:11884474-11884474	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1056C>T; p.S352S; 12:11884491-11884491	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.979G>C; p.E327Q; 12:11869939-11869939	urinary_tract; bladder	carcinoma	Substitution - Missense
c.753C>T; p.S251S; 12:11869713-11869713	skin; arm	malignant_melanoma	Substitution - coding silent
c.66C>A; p.S22R; 12:11752482-11752482	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1243C>G; p.L415V; 12:11886016-11886016	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.272G>A; p.G91D; 12:11839248-11839248	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.609C>G; p.S203S; 12:11869569-11869569	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.272G>A; p.G91D; 12:11839248-11839248	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1123G>A; p.G375R; 12:11884558-11884558	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.325T>G; p.S109A; 12:11839301-11839301	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.328G>A; p.G110S; 12:11839304-11839304	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1003A>G; p.I335V; 12:11869963-11869963	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.353_357delAGCAT; p.Q118fs*34; 12:11853451-11853455	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Deletion - Frameshift
c.41G>A; p.R14Q; 12:11752457-11752457	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1144A>G; p.N382D; 12:11884579-11884579	breast	carcinoma	Substitution - Missense
c.41G>A; p.R14Q; 12:11752457-11752457	skin	malignant_melanoma	Substitution - Missense
c.602T>C; p.L201P; 12:11869562-11869562	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.790C>T; p.R264C; 12:11869750-11869750	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.778C>T; p.Q260*; 12:11869738-11869738	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.93G>A; p.T31T; 12:11752509-11752509	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1225A>G; p.K409E; 12:11885998-11885998	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1225A>G; p.K409E; 12:11885998-11885998	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1057C>T; p.R353W; 12:11884492-11884492	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.853G>A; p.V285M; 12:11869813-11869813	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.210C>G; p.L70L; 12:11839186-11839186	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.115C>T; p.R39*; 12:11752531-11752531	ovary	carcinoma; clear_cell_carcinoma	Substitution - Nonsense
c.19C>T; p.Q7*; 12:11650146-11650146	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Nonsense
c.19C>T; p.Q7*; 12:11650146-11650146	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Nonsense
c.1047T>G; p.L349L; 12:11884482-11884482	pancreas	carcinoma	Substitution - coding silent
c.981G>A; p.E327E; 12:11869941-11869941	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.556A>G; p.I186V; 12:11869516-11869516	skin	malignant_melanoma	Substitution - Missense
c.1064delA; p.N356fs*15; 12:11884499-11884499	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.450_451insA; p.N151fs*3; 12:11853548-11853549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Insertion - Frameshift
c.1064delA; p.N356fs*15; 12:11884499-11884499	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1016G>T; p.R339I; 12:11884451-11884451	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.1153-1G>T; p.?; 12:11885925-11885925	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.1174G>A; p.E392K; 12:11885947-11885947	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.17C>T; p.A6V; 12:11650144-11650144	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.484C>T; p.P162S; 12:11869444-11869444	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.683A>G; p.N228S; 12:11869643-11869643	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.683A>G; p.N228S; 12:11869643-11869643	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1286G>A; p.G429D; 12:11890973-11890973	liver	carcinoma	Substitution - Missense
c.1186A>G; p.R396G; 12:11885959-11885959	large_intestine; colon	carcinoma	Substitution - Missense
c.673C>T; p.Q225*; 12:11869633-11869633	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1085A>G; p.D362G; 12:11884520-11884520	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1186A>G; p.R396G; 12:11885959-11885959	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1186A>G; p.R396G; 12:11885959-11885959	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1186A>G; p.R396G; 12:11885959-11885959	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.699C>T; p.Y233Y; 12:11869659-11869659	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.628C>T; p.R210C; 12:11869588-11869588	skin	malignant_melanoma	Substitution - Missense
c.1129G>A; p.A377T; 12:11884564-11884564	pancreas	carcinoma	Substitution - Missense
c.641C>T; p.P214L; 12:11869601-11869601	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.813C>T; p.S271S; 12:11869773-11869773	breast	carcinoma	Substitution - coding silent
c.5C>G; p.S2C; 12:11650132-11650132	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.34C>T; p.Q12*; 12:11752450-11752450	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.1051G>C; p.D351H; 12:11884486-11884486	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.982C>T; p.H328Y; 12:11869942-11869942	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.666G>T; p.R222S; 12:11869626-11869626	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.314G>C; p.R105P; 12:11839290-11839290	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.314G>C; p.R105P; 12:11839290-11839290	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1106G>A; p.R369Q; 12:11884541-11884541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1253+2T>G; p.?; 12:11886028-11886028	pancreas	NS	Unknown
c.247G>A; p.D83N; 12:11839223-11839223	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1106G>A; p.R369Q; 12:11884541-11884541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.815C>G; p.P272R; 12:11869775-11869775	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1022_1031delTTTGGGATTA; p.L341fs*27; 12:11884457-11884466	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Deletion - Frameshift
c.604C>T; p.R202W; 12:11869564-11869564	skin	malignant_melanoma	Substitution - Missense
c.1040A>C; p.Q347P; 12:11884475-11884475	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.931G>A; p.D311N; 12:11869891-11869891	urinary_tract; bladder	carcinoma	Substitution - Missense
c.750G>C; p.E250D; 12:11869710-11869710	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.331G>A; p.D111N; 12:11853429-11853429	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.11C>T; p.T4I; 12:11650138-11650138	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.561G>C; p.T187T; 12:11869521-11869521	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.315_316insGTC; p.R105_S106insV; 12:11839291-11839292	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - In frame
c.673_674insA; p.E226fs*18; 12:11869633-11869634	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.258G>A; p.T86T; 12:11839234-11839234	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.258G>A; p.T86T; 12:11839234-11839234	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.283_285delCTG; p.L97delL; 12:11839259-11839261	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - In frame
c.195C>A; p.D65E; 12:11839171-11839171	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.283_285delCTG; p.L97delL; 12:11839259-11839261	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - In frame
c.542G>T; p.R181L; 12:11869502-11869502	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.747C>T; p.S249S; 12:11869707-11869707	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.464-1G>T; p.?; 12:11869423-11869423	urinary_tract; bladder	carcinoma	Unknown
c.311_323delATCGATCTCCTCA; p.Y104fs*14; 12:11839287-11839299	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.1075C>T; p.R359*; 12:11884510-11884510	skin	malignant_melanoma	Substitution - Nonsense
c.249C>G; p.D83E; 12:11839225-11839225	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.925C>T; p.R309W; 12:11869885-11869885	skin	malignant_melanoma	Substitution - Missense
c.1142G>A; p.G381E; 12:11884577-11884577	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.463+6G>A; p.?; 12:11853567-11853567	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.650G>C; p.R217T; 12:11869610-11869610	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.650G>C; p.R217T; 12:11869610-11869610	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.967_968insCC; p.P325fs*12; 12:11869927-11869928	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Insertion - Frameshift
c.632G>A; p.R211H; 12:11869592-11869592	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1058G>C; p.R353P; 12:11884493-11884493	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1173T>A; p.Y391*; 12:11885946-11885946	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1173T>A; p.Y391*; 12:11885946-11885946	breast	carcinoma	Substitution - Nonsense
c.1282A>G; p.S428G; 12:11890969-11890969	skin	malignant_melanoma	Substitution - Missense
c.349C>T; p.L117F; 12:11853447-11853447	skin	malignant_melanoma	Substitution - Missense
c.421C>T; p.H141Y; 12:11853519-11853519	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1207A>G; p.K403E; 12:11885980-11885980	pancreas	carcinoma	Substitution - Missense
c.1207A>G; p.K403E; 12:11885980-11885980	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1196G>A; p.R399H; 12:11885969-11885969	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.386T>C; p.L129P; 12:11853484-11853484	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1140G>T; p.W380C; 12:11884575-11884575	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1130C>T; p.A377V; 12:11884565-11884565	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.414_415delCT; p.S139fs*14; 12:11853512-11853513	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1167_1175delGACCTATGA; p.T390_E392delTYE; 12:11885940-11885948	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.775C>G; p.R259G; 12:11869735-11869735	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.141G>A; p.S47S; 12:11752557-11752557	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.489G>A; p.R163R; 12:11869449-11869449	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.954_955insT; p.M319fs*8; 12:11869914-11869915	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - Frameshift
c.631C>T; p.R211C; 12:11869591-11869591	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1133G>C; p.R378P; 12:11884568-11884568	breast	carcinoma	Substitution - Missense
c.236T>C; p.L79S; 12:11839212-11839212	skin	malignant_melanoma	Substitution - Missense
c.1195C>A; p.R399S; 12:11885968-11885968	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.58C>T; p.P20S; 12:11752474-11752474	breast	carcinoma	Substitution - Missense
c.163C>T; p.R55C; 12:11752579-11752579	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.163C>T; p.R55C; 12:11752579-11752579	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.156_162delGCACCTG; p.H53fs*12; 12:11752572-11752578	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Deletion - Frameshift
c.632_639delGCCTCTCC; p.R211fs*3; 12:11869592-11869599	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Deletion - Frameshift
c.550T>A; p.S184T; 12:11869510-11869510	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.599C>T; p.P200L; 12:11869559-11869559	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.23G>A; p.C8Y; 12:11650150-11650150	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.404A>G; p.H135R; 12:11853502-11853502	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.971C>A; p.P324Q; 12:11869931-11869931	central_nervous_system; brain	glioma	Substitution - Missense
c.971C>A; p.P324Q; 12:11869931-11869931	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.304_310delTTTCGCT; p.F102fs*18; 12:11839280-11839286	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Deletion - Frameshift
c.901G>T; p.G301W; 12:11869861-11869861	skin	malignant_melanoma	Substitution - Missense
c.541C>T; p.R181C; 12:11869501-11869501	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.613C>T; p.L205L; 12:11869573-11869573	skin	malignant_melanoma	Substitution - coding silent
c.1294G>C; p.D432H; 12:11890981-11890981	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.348C>T; p.L116L; 12:11853446-11853446	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.181T>C; p.W61R; 12:11839157-11839157	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.432G>A; p.P144P; 12:11853530-11853530	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.776G>A; p.R259Q; 12:11869736-11869736	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.144C>T; p.I48I; 12:11752560-11752560	skin	malignant_melanoma	Substitution - coding silent
c.74C>G; p.P25R; 12:11752490-11752490	stomach	adenocarcinoma	Substitution - Missense
c.311_323del13; p.Y104fs*14; 12:11839287-11839299	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Deletion - Frameshift
c.215delG; p.A73fs*7; 12:11839191-11839191	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm	Deletion - Frameshift
c.852C>T; p.S284S; 12:11869812-11869812	breast	carcinoma	Substitution - coding silent
c.215delG; p.A73fs*7; 12:11839191-11839191	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm	Deletion - Frameshift
c.215delG; p.A73fs*7; 12:11839191-11839191	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm	Deletion - Frameshift
c.31A>T; p.K11*; 12:11650158-11650158	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Nonsense
c.1202A>G; p.Y401C; 12:11885975-11885975	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1105C>T; p.R369W; 12:11884540-11884540	large_intestine; colon	NS	Substitution - Missense
c.1105C>T; p.R369W; 12:11884540-11884540	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.580C>T; p.P194S; 12:11869540-11869540	skin	malignant_melanoma	Substitution - Missense
c.1105C>T; p.R369W; 12:11884540-11884540	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.83C>T; p.A28V; 12:11752499-11752499	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1123G>C; p.G375R; 12:11884558-11884558	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.86C>T; p.S29F; 12:11752502-11752502	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1252A>G; p.R418G; 12:11886025-11886025	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1283G>A; p.S428N; 12:11890970-11890970	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.879C>T; p.S293S; 12:11869839-11869839	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1105C>A; p.R369R; 12:11884540-11884540	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.596G>A; p.R199Q; 12:11869556-11869556	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.313C>G; p.R105G; 12:11839289-11839289	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.313C>G; p.R105G; 12:11839289-11839289	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1234G>A; p.G412R; 12:11886007-11886007	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1253+1G>T; p.?; 12:11886027-11886027	soft_tissue; blood_vessel	angiosarcoma	Unknown
c.1049C>T; p.S350F; 12:11884484-11884484	breast	carcinoma	Substitution - Missense
c.851C>T; p.S284F; 12:11869811-11869811	skin	malignant_melanoma	Substitution - Missense
c.572G>T; p.R191L; 12:11869532-11869532	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1087A>G; p.K363E; 12:11884522-11884522	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.336G>A; p.V112V; 12:11853434-11853434	pancreas	carcinoma	Substitution - coding silent
c.1054A>T; p.S352C; 12:11884489-11884489	liver	carcinoma	Substitution - Missense
c.1054A>T; p.S352C; 12:11884489-11884489	liver	carcinoma	Substitution - Missense
c.608delC; p.L205fs*4; 12:11869568-11869568	skin	malignant_melanoma	Deletion - Frameshift
c.611C>T; p.P204L; 12:11869571-11869571	skin	malignant_melanoma	Substitution - Missense
c.1106G>T; p.R369L; 12:11884541-11884541	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.669G>A; p.P223P; 12:11869629-11869629	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.64A>T; p.S22C; 12:11752480-11752480	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.669G>A; p.P223P; 12:11869629-11869629	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.319C>T; p.P107S; 12:11839295-11839295	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense

Mutation summary in protein domains

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

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]