Entrez Gene

Basic Information
Gene ID	867
Name	CBL
Synonymous	Cbl proto-oncogene, E3 ubiquitin protein ligase;CBL;Cbl proto-oncogene, E3 ubiquitin protein ligase
Definition	Cas-Br-M (murine) ecotropic retroviral transforming sequence\|E3 ubiquitin-protein ligase CBL\|RING finger protein 55\|casitas B-lineage lymphoma proto-oncogene\|fragile site, folic acid type, rare, fra(11)(q23.3)\|oncogene CBL2\|proto-oncogene c-Cbl\|signal tra
Position	11q23.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.560C>T; p.A187V; 11:119271851-119271851	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2216C>T; p.S739F; 11:119297446-119297446	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1641T>C; p.P547P; 11:119285266-119285266	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1364_1366delATG; p.D460delD; 11:119278646-119278648	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - In frame
c.741C>G; p.L247L; 11:119274018-119274018	breast	carcinoma; HER-positive_carcinoma	Substitution - coding silent
c.1619G>C; p.R540P; 11:119285244-119285244	breast	carcinoma	Substitution - Missense
c.1501G>C; p.D501H; 11:119285038-119285038	breast	carcinoma	Substitution - Missense
c.1047G>A; p.L349L; 11:119277796-119277796	breast	carcinoma	Substitution - coding silent
c.198G>T; p.V66V; 11:119232450-119232450	breast	carcinoma	Substitution - coding silent
c.1982A>C; p.H661P; 11:119287892-119287892	breast	carcinoma	Substitution - Missense
c.842T>A; p.L281H; 11:119274926-119274926	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.293T>C; p.I98T; 11:119232545-119232545	breast	carcinoma	Substitution - Missense
c.2439C>A; p.V813V; 11:119299499-119299499	breast	carcinoma	Substitution - coding silent
c.561G>A; p.A187A; 11:119271852-119271852	breast	carcinoma	Substitution - coding silent
c.397T>C; p.F133L; 11:119232649-119232649	breast	carcinoma	Substitution - Missense
c.1283C>T; p.P428L; 11:119278565-119278565	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1152T>G; p.C384W; 11:119278222-119278222	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1234G>A; p.E412K; 11:119278516-119278516	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1234G>A; p.E412K; 11:119278516-119278516	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1827G>A; p.W609*; 11:119285452-119285452	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1259G>A; p.R420Q; 11:119278541-119278541	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.557C>T; p.A186V; 11:119271848-119271848	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.965A>C; p.K322T; 11:119276092-119276092	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1865T>G; p.F622C; 11:119285490-119285490	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2549C>T; p.A850V; 11:119299609-119299609	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.826G>A; p.E276K; 11:119274910-119274910	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.279G>A; p.Q93Q; 11:119232531-119232531	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1287C>T; p.I429I; 11:119278569-119278569	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1637C>T; p.P546L; 11:119285262-119285262	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2370C>T; p.L790L; 11:119298476-119298476	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2603G>A; p.G868E; 11:119299663-119299663	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2033C>A; p.A678D; 11:119287943-119287943	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2464A>G; p.R822G; 11:119299524-119299524	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1258C>T; p.R420*; 11:119278540-119278540	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1376A>T; p.D459V; 11:119278658-119278658	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2268C>T; p.A756A; 11:119298374-119298374	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1594C>T; p.P532S; 11:119285219-119285219	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1100A>C; p.Q367P; 11:119278170-119278170	genital_tract; extragonadal	germ_cell_tumour; seminoma	Substitution - Missense
c.1100A>G; p.Q367R; 11:119278170-119278170	genital_tract; extragonadal	germ_cell_tumour; teratoma	Substitution - Missense
c.1643C>T; p.P548L; 11:119285268-119285268	genital_tract; extragonadal	germ_cell_tumour; seminoma	Substitution - Missense
c.1643C>T; p.P548L; 11:119285268-119285268	genital_tract; extragonadal	germ_cell_tumour; mixed	Substitution - Missense
c.1255T>C; p.C419R; 11:119278537-119278537	genital_tract; extragonadal	germ_cell_tumour; yolk_sac_tumour	Substitution - Missense
c.1169A>T; p.D390V; 11:119278239-119278239	genital_tract; extragonadal	germ_cell_tumour; seminoma	Substitution - Missense
c.1095+1G>C; p.?; 11:119277845-119277845	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis	Unknown
c.1285_1302del18; p.I429_F434delIVVDPF; 11:119278567-119278584	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - In frame
c.770A>G; p.N257S; 11:119274854-119274854	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1095+1G>C; p.?; 11:119277845-119277845	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Unknown
c.1201T>A; p.C401S; 11:119278271-119278271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.2101A>G; p.M701V; 11:119296982-119296982	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1120A>G; p.M374V; 11:119278190-119278190	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1247G>A; p.C416Y; 11:119278529-119278529	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1169A>G; p.D390G; 11:119278239-119278239	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1247G>A; p.C416Y; 11:119278529-119278529	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1183C>G; p.P395A; 11:119278253-119278253	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Substitution - Missense
c.881G>A; p.R294Q; 11:119276008-119276008	haematopoietic_and_lymphoid_tissue; abdomen	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1223G>T; p.W408L; 11:119278293-119278293	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1224G>T; p.W408C; 11:119278294-119278294	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1340C>T; p.A447V; 11:119278622-119278622	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1244G>T; p.G415V; 11:119278526-119278526	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1141T>C; p.C381R; 11:119278211-119278211	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1101_1102insCAA; p.Q367_Y368insQ; 11:119278171-119278172	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; mast_cell_neoplasm	Insertion - In frame
c.1141T>C; p.C381R; 11:119278211-119278211	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.638_639insA; p.H213fs*17; 11:119273915-119273916	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Insertion - Frameshift
c.1142G>A; p.C381Y; 11:119278212-119278212	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1142G>A; p.C381Y; 11:119278212-119278212	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1142G>A; p.C381Y; 11:119278212-119278212	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.809_810insT; p.L272fs*4; 11:119274893-119274894	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.1192C>T; p.H398Y; 11:119278262-119278262	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1360A>G; p.N454D; 11:119278642-119278642	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1193A>G; p.H398R; 11:119278263-119278263	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1027C>T; p.R343*; 11:119277776-119277776	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.1027C>T; p.R343*; 11:119277776-119277776	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.1027C>T; p.R343*; 11:119277776-119277776	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.1096-78_1108>CAGTCTTCA; p.?; 11:119278166-119278178	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.860A>G; p.K287R; 11:119274944-119274944	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1100A>G; p.Q367R; 11:119278170-119278170	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1100A>G; p.Q367R; 11:119278170-119278170	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.2297A>T; p.E766V; 11:119298403-119298403	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1222T>A; p.W408R; 11:119278292-119278292	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1222T>A; p.W408R; 11:119278292-119278292	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1250C>A; p.P417H; 11:119278532-119278532	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1250C>G; p.P417R; 11:119278532-119278532	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1496G>T; p.R499L; 11:119285033-119285033	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1250C>G; p.P417R; 11:119278532-119278532	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Substitution - Missense
c.1259G>T; p.R420L; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1096-96_1186>CGG; p.?; 11:119278069-119278256	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.1199T>G; p.M400R; 11:119278269-119278269	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.616C>T; p.R206*; 11:119273893-119273893	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.1190_1288del99; p.G397_I429del; 11:119278260-119278570	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Deletion - In frame
c.1111T>G; p.Y371D; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>G; p.Y371D; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2024C>G; p.S675C; 11:119287934-119287934	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.1111T>G; p.Y371D; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>G; p.Y371D; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1837G>T; p.E613*; 11:119285462-119285462	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.2024C>G; p.S675C; 11:119287934-119287934	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Substitution - Missense
c.1228-2A>G; p.?; 11:119278508-119278508	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Unknown
c.1207_1227+1637>CTTT; p.?; 11:119278277-119278313	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.1228-2A>G; p.?; 11:119278508-119278508	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Unknown
c.1228-2A>G; p.?; 11:119278508-119278508	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Unknown
c.1228-2A>G; p.?; 11:119278508-119278508	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_eosinophilic_leukaemia-hypereosinophilic_syndrome	Unknown
c.1228-2A>G; p.?; 11:119278508-119278508	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Unknown
c.1228-2A>G; p.?; 11:119278508-119278508	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Unknown
c.595A>G; p.I199V; 11:119273872-119273872	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1111_1112insTAT; p.L370_Y371insL; 11:119278181-119278182	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Insertion - In frame
c.1187G>A; p.C396Y; 11:119278257-119278257	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1187G>A; p.C396Y; 11:119278257-119278257	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis	Substitution - Missense
c.1222T>C; p.W408R; 11:119278292-119278292	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1222T>C; p.W408R; 11:119278292-119278292	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1167G>T; p.K389N; 11:119278237-119278237	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1212T>G; p.C404W; 11:119278282-119278282	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1096-10_1106>CCGGGG; p.?; 11:119278156-119278176	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.1172_1173insGGATGT; p.V391_K392insDV; 11:119278242-119278243	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Insertion - In frame
c.1195C>G; p.L399V; 11:119278265-119278265	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.1255T>C; p.C419R; 11:119278537-119278537	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1421C>T; p.A474V; 11:119278703-119278703	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2032G>A; p.A678T; 11:119287942-119287942	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1253T>C; p.F418S; 11:119278535-119278535	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1253T>C; p.F418S; 11:119278535-119278535	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.1253T>C; p.F418S; 11:119278535-119278535	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1253T>C; p.F418S; 11:119278535-119278535	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.870_1007del138; p.I292_Y337del46; 11:119275997-119276134	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.1227+4C>T; p.?; 11:119278301-119278301	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Unknown
c.1202G>A; p.C401Y; 11:119278272-119278272	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1202G>A; p.C401Y; 11:119278272-119278272	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1227+4C>T; p.?; 11:119278301-119278301	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Unknown
c.1096-?_1431+?del1680; p.E366_K477del; 11:119278166-119278713	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	Deletion - In frame
c.1690C>T; p.P564S; 11:119285315-119285315	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1246T>C; p.C416R; 11:119278528-119278528	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1246T>C; p.C416R; 11:119278528-119278528	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1223G>C; p.W408S; 11:119278293-119278293	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1384C>T; p.R462*; 11:119278666-119278666	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Nonsense
c.1204delA; p.T402fs*30; 11:119278274-119278274	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Deletion - Frameshift
c.2033C>T; p.A678V; 11:119287943-119287943	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1106_1171del66; p.E369_D390del22; 11:119278176-119278241	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Deletion - In frame
c.1112A>C; p.Y371S; 11:119278182-119278182	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.1112A>C; p.Y371S; 11:119278182-119278182	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1202G>C; p.C401S; 11:119278272-119278272	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1202G>C; p.C401S; 11:119278272-119278272	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1150T>C; p.C384R; 11:119278220-119278220	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1150T>C; p.C384R; 11:119278220-119278220	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1150T>C; p.C384R; 11:119278220-119278220	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1150T>C; p.C384R; 11:119278220-119278220	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1150T>C; p.C384R; 11:119278220-119278220	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1150T>C; p.C384R; 11:119278220-119278220	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1150T>C; p.C384R; 11:119278220-119278220	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1150T>C; p.C384R; 11:119278220-119278220	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1193A>C; p.H398P; 11:119278263-119278263	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1148T>C; p.I383T; 11:119278218-119278218	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1198A>G; p.M400V; 11:119278268-119278268	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1259G>C; p.R420P; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1210T>G; p.C404G; 11:119278280-119278280	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1363_1364insATG; p.D460_E461insD; 11:119278645-119278646	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.1210T>C; p.C404R; 11:119278280-119278280	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1106_1228del123; p.E369_Q409del; 11:119278176-119278510	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.1364_1366delATG; p.D460delD; 11:119278646-119278648	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Deletion - In frame
c.1267A>T; p.I423F; 11:119278549-119278549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2183G>A; p.S728N; 11:119297413-119297413	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1319G>T; p.G440V; 11:119278601-119278601	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1249C>T; p.P417S; 11:119278531-119278531	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1243G>A; p.G415S; 11:119278525-119278525	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.1243G>A; p.G415S; 11:119278525-119278525	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.793C>T; p.H265Y; 11:119274877-119274877	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1144A>G; p.K382E; 11:119278214-119278214	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1144A>G; p.K382E; 11:119278214-119278214	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.1224G>C; p.W408C; 11:119278294-119278294	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1258C>T; p.R420*; 11:119278540-119278540	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Nonsense
c.1227+5G>A; p.?; 11:119278302-119278302	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Unknown
c.1276A>C; p.T426P; 11:119278558-119278558	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1319G>A; p.G440D; 11:119278601-119278601	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1276A>C; p.T426P; 11:119278558-119278558	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1250C>T; p.P417L; 11:119278532-119278532	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1250C>T; p.P417L; 11:119278532-119278532	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1139T>G; p.L380R; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1249C>G; p.P417A; 11:119278531-119278531	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1249C>G; p.P417A; 11:119278531-119278531	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	Deletion - In frame
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - In frame
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	Deletion - In frame
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - In frame
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.1112A>G; p.Y371C; 11:119278182-119278182	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1254C>A; p.F418L; 11:119278536-119278536	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1186T>C; p.C396R; 11:119278256-119278256	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1186T>C; p.C396R; 11:119278256-119278256	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1127C>T; p.S376F; 11:119278197-119278197	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1186T>C; p.C396R; 11:119278256-119278256	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis	Substitution - Missense
c.1186T>C; p.C396R; 11:119278256-119278256	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.2030C>T; p.A677V; 11:119287940-119287940	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1186T>G; p.C396G; 11:119278256-119278256	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1096-1G>C; p.?; 11:119278165-119278165	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1096-1G>C; p.?; 11:119278165-119278165	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Unknown
c.1096-1G>C; p.?; 11:119278165-119278165	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Unknown
c.1151G>A; p.C384Y; 11:119278221-119278221	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.1151G>A; p.C384Y; 11:119278221-119278221	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1151G>A; p.C384Y; 11:119278221-119278221	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable	Substitution - Missense
c.1151G>A; p.C384Y; 11:119278221-119278221	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_polycythaemia_vera	Substitution - Missense
c.1151G>A; p.C384Y; 11:119278221-119278221	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1151G>A; p.C384Y; 11:119278221-119278221	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1151G>A; p.C384Y; 11:119278221-119278221	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Substitution - Missense
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm	Substitution - Missense
c.1103_1168del66; p.E369_D390del; 11:119278173-119278238	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Deletion - In frame
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable	Substitution - Missense
c.1246T>A; p.C416S; 11:119278528-119278528	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1246T>A; p.C416S; 11:119278528-119278528	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.1786C>T; p.P596S; 11:119285411-119285411	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.2190G>A; p.T730T; 11:119297420-119297420	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.562G>T; p.E188*; 11:119271853-119271853	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_essential_thrombocythaemia	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1248T>G; p.C416W; 11:119278530-119278530	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1248T>G; p.C416W; 11:119278530-119278530	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.1412A>G; p.K471R; 11:119278694-119278694	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2387C>T; p.A796V; 11:119298493-119298493	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2156C>T; p.A719V; 11:119297386-119297386	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2641G>A; p.A881T; 11:119299701-119299701	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.896G>A; p.R299H; 11:119276023-119276023	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1638G>A; p.P546P; 11:119285263-119285263	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1100A>T; p.Q367L; 11:119278170-119278170	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1141T>C; p.C381R; 11:119278211-119278211	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2314G>T; p.D772Y; 11:119298420-119298420	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1142G>A; p.C381Y; 11:119278212-119278212	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1298C>T; p.P433L; 11:119278580-119278580	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1142G>A; p.C381Y; 11:119278212-119278212	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1193A>G; p.H398R; 11:119278263-119278263	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1904C>A; p.P635H; 11:119285529-119285529	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1676G>A; p.R559Q; 11:119285301-119285301	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.116A>G; p.H39R; 11:119206533-119206533	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.860A>G; p.K287R; 11:119274944-119274944	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.616C>T; p.R206*; 11:119273893-119273893	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1804G>A; p.A602T; 11:119285429-119285429	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.746A>G; p.Q249R; 11:119274023-119274023	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2681A>G; p.E894G; 11:119299741-119299741	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1228-2A>G; p.?; 11:119278508-119278508	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.826G>A; p.E276K; 11:119274910-119274910	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.826G>A; p.E276K; 11:119274910-119274910	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.859A>G; p.K287E; 11:119274943-119274943	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1251T>C; p.P417P; 11:119278533-119278533	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1251T>C; p.P417P; 11:119278533-119278533	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1128C>T; p.S376S; 11:119278198-119278198	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1128C>T; p.S376S; 11:119278198-119278198	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1128C>T; p.S376S; 11:119278198-119278198	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1299G>A; p.P433P; 11:119278581-119278581	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1101A>G; p.Q367Q; 11:119278171-119278171	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1496G>A; p.R499Q; 11:119285033-119285033	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1096-1G>A; p.?; 11:119278165-119278165	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1255T>C; p.C419R; 11:119278537-119278537	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1385G>T; p.R462L; 11:119278667-119278667	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1253T>C; p.F418S; 11:119278535-119278535	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2543C>T; p.A848V; 11:119299603-119299603	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1477C>T; p.L493F; 11:119285014-119285014	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.446G>A; p.R149Q; 11:119271737-119271737	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.446G>A; p.R149Q; 11:119271737-119271737	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.446G>A; p.R149Q; 11:119271737-119271737	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.837T>G; p.A279A; 11:119274921-119274921	large_intestine; colon	NS	Substitution - coding silent
c.1223G>C; p.W408S; 11:119278293-119278293	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2603G>T; p.G868V; 11:119299663-119299663	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1220C>T; p.S407F; 11:119278290-119278290	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1143T>C; p.C381C; 11:119278213-119278213	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1143T>C; p.C381C; 11:119278213-119278213	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1443G>A; p.P481P; 11:119284980-119284980	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1183C>T; p.P395S; 11:119278253-119278253	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1099C>T; p.Q367*; 11:119278169-119278169	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1013T>C; p.L338S; 11:119277762-119277762	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1013T>C; p.L338S; 11:119277762-119277762	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1210T>C; p.C404R; 11:119278280-119278280	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1363_1364insATG; p.D460_E461insD; 11:119278645-119278646	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.416G>T; p.R139I; 11:119232668-119232668	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2404T>C; p.W802R; 11:119298510-119298510	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2363G>A; p.R788Q; 11:119298469-119298469	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1245C>A; p.G415G; 11:119278527-119278527	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1259G>A; p.R420Q; 11:119278541-119278541	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1199T>C; p.M400T; 11:119278269-119278269	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1258C>T; p.R420*; 11:119278540-119278540	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1199T>C; p.M400T; 11:119278269-119278269	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.861A>G; p.K287K; 11:119274945-119274945	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1188T>C; p.C396C; 11:119278258-119278258	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1188T>C; p.C396C; 11:119278258-119278258	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1184C>T; p.P395L; 11:119278254-119278254	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1250C>T; p.P417L; 11:119278532-119278532	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2269G>A; p.A757T; 11:119298375-119298375	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.429G>T; p.E143D; 11:119232681-119232681	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1186T>C; p.C396R; 11:119278256-119278256	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.152T>C; p.V51A; 11:119206569-119206569	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1208C>T; p.S403F; 11:119278278-119278278	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1208C>T; p.S403F; 11:119278278-119278278	large_intestine; colon	carcinoma	Substitution - Missense
c.617G>A; p.R206Q; 11:119273894-119273894	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.617G>A; p.R206Q; 11:119273894-119273894	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1201T>C; p.C401R; 11:119278271-119278271	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1201T>C; p.C401R; 11:119278271-119278271	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1151G>A; p.C384Y; 11:119278221-119278221	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2405G>A; p.W802*; 11:119298511-119298511	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1141T>G; p.C381G; 11:119278211-119278211	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.686A>T; p.D229V; 11:119273963-119273963	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.874A>G; p.I292V; 11:119276001-119276001	liver	carcinoma	Substitution - Missense
c.36G>T; p.G12G; 11:119206453-119206453	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.922G>A; p.V308I; 11:119276049-119276049	liver	carcinoma	Substitution - Missense
c.1612delA; p.T538fs*77; 11:119285237-119285237	liver	carcinoma	Deletion - Frameshift
c.1767A>T; p.S589S; 11:119285392-119285392	liver	carcinoma	Substitution - coding silent
c.1767A>T; p.S589S; 11:119285392-119285392	liver	carcinoma	Substitution - coding silent
c.854_855delTT; p.I285fs*26; 11:119274938-119274939	liver	carcinoma	Deletion - Frameshift
c.1450C>T; p.P484S; 11:119284987-119284987	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1237G>C; p.G413R; 11:119278519-119278519	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1237G>C; p.G413R; 11:119278519-119278519	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.597A>T; p.I199I; 11:119273874-119273874	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.280C>T; p.H94Y; 11:119232532-119232532	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.958C>G; p.H320D; 11:119276085-119276085	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1401C>A; p.L467L; 11:119278683-119278683	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2406G>A; p.W802*; 11:119298512-119298512	lung	carcinoma; non_small_cell_carcinoma	Substitution - Nonsense
c.523C>T; p.Q175*; 11:119271814-119271814	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1379_1381delATG; p.D460delD; 11:119278661-119278663	lung	carcinoma; non_small_cell_carcinoma	Deletion - In frame
c.1618C>A; p.R540R; 11:119285243-119285243	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.261G>A; p.L87L; 11:119232513-119232513	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.333A>G; p.E111E; 11:119232585-119232585	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1171G>A; p.V391I; 11:119278241-119278241	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1171G>A; p.V391I; 11:119278241-119278241	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2708A>T; p.H903L; 11:119299768-119299768	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1753C>T; p.R585C; 11:119285378-119285378	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2489G>A; p.R830K; 11:119299549-119299549	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.650C>A; p.S217Y; 11:119273927-119273927	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.203G>T; p.R68L; 11:119232455-119232455	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1202G>T; p.C401F; 11:119278272-119278272	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.468C>T; p.L156L; 11:119271759-119271759	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2266G>T; p.A756S; 11:119298372-119298372	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2136T>C; p.D712D; 11:119297017-119297017	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.352delT; p.F118fs*5; 11:119232604-119232604	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1243G>A; p.G415S; 11:119278525-119278525	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.745C>G; p.Q249E; 11:119274022-119274022	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1407G>A; p.M469I; 11:119278689-119278689	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2542G>A; p.A848T; 11:119299602-119299602	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2680G>T; p.E894*; 11:119299740-119299740	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.747+1G>A; p.?; 11:119274025-119274025	lung	carcinoma; adenocarcinoma	Unknown
c.1190G>T; p.G397V; 11:119278260-119278260	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1430A>T; p.K477M; 11:119278712-119278712	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2192A>G; p.Y731C; 11:119297422-119297422	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.239G>A; p.S80N; 11:119232491-119232491	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2144A>C; p.Q715P; 11:119297025-119297025	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2665delA; p.N890fs*15; 11:119299725-119299725	NS	malignant_melanoma	Deletion - Frameshift
c.1228-2A>T; p.?; 11:119278508-119278508	oesophagus	carcinoma; squamous_cell_carcinoma	Unknown
c.641C>T; p.P214L; 11:119273918-119273918	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1012T>C; p.L338L; 11:119277761-119277761	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1234G>A; p.E412K; 11:119278516-119278516	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1169A>G; p.D390G; 11:119278239-119278239	pancreas	carcinoma	Substitution - Missense
c.1169A>G; p.D390G; 11:119278239-119278239	pancreas	carcinoma	Substitution - Missense
c.736C>T; p.R246*; 11:119274013-119274013	pancreas	carcinoma	Substitution - Nonsense
c.592A>C; p.T198P; 11:119273869-119273869	pancreas	other; adenoma	Substitution - Missense
c.1227+2T>C; p.?; 11:119278299-119278299	pancreas	carcinoma	Unknown
c.1227+2T>C; p.?; 11:119278299-119278299	pancreas	carcinoma	Unknown
c.1227+2T>C; p.?; 11:119278299-119278299	pancreas	carcinoma	Unknown
c.2359C>A; p.R787S; 11:119298465-119298465	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.19A>T; p.K7*; 11:119206436-119206436	prostate	carcinoma	Substitution - Nonsense
c.1737C>T; p.P579P; 11:119285362-119285362	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.852C>T; p.F284F; 11:119274936-119274936	skin	malignant_melanoma	Substitution - coding silent
c.1528C>T; p.P510S; 11:119285065-119285065	skin	malignant_melanoma	Substitution - Missense
c.745C>T; p.Q249*; 11:119274022-119274022	skin	malignant_melanoma	Substitution - Nonsense
c.1214T>C; p.L405P; 11:119278284-119278284	skin	malignant_melanoma	Substitution - Missense
c.1250C>A; p.P417H; 11:119278532-119278532	skin	malignant_melanoma	Substitution - Missense
c.2037-1G>A; p.?; 11:119296917-119296917	skin; trunk	malignant_melanoma	Unknown
c.835G>A; p.A279T; 11:119274919-119274919	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1287C>T; p.I429I; 11:119278569-119278569	skin	malignant_melanoma	Substitution - coding silent
c.601C>T; p.P201S; 11:119273878-119273878	skin	malignant_melanoma	Substitution - Missense
c.601C>T; p.P201S; 11:119273878-119273878	skin	malignant_melanoma	Substitution - Missense
c.601C>T; p.P201S; 11:119273878-119273878	skin; extremity	malignant_melanoma	Substitution - Missense
c.1674C>T; p.S558S; 11:119285299-119285299	skin	malignant_melanoma	Substitution - coding silent
c.600C>T; p.V200V; 11:119273877-119273877	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.600C>T; p.V200V; 11:119273877-119273877	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1196T>C; p.L399P; 11:119278266-119278266	skin; neck	malignant_melanoma	Substitution - Missense
c.543T>C; p.I181I; 11:119271834-119271834	skin	malignant_melanoma	Substitution - coding silent
c.2601G>A; p.Q867Q; 11:119299661-119299661	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.600_601CC>TT; p.P201S; 11:119273877-119273878	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1101A>T; p.Q367H; 11:119278171-119278171	skin	malignant_melanoma	Substitution - Missense
c.1150T>C; p.C384R; 11:119278220-119278220	skin; acral	malignant_melanoma	Substitution - Missense
c.329G>A; p.G110E; 11:119232581-119232581	skin	malignant_melanoma	Substitution - Missense
c.2108C>T; p.P703L; 11:119296989-119296989	skin; mucosal	malignant_melanoma	Substitution - Missense
c.201G>A; p.V67V; 11:119232453-119232453	skin	malignant_melanoma	Substitution - coding silent
c.1697C>T; p.P566L; 11:119285322-119285322	skin	malignant_melanoma	Substitution - Missense
c.2623C>T; p.Q875*; 11:119299683-119299683	skin; upper_leg	malignant_melanoma	Substitution - Nonsense
c.1717C>T; p.P573S; 11:119285342-119285342	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2673C>T; p.I891I; 11:119299733-119299733	skin	malignant_melanoma	Substitution - coding silent
c.1364_1366delATG; p.D460delD; 11:119278646-119278648	skin	malignant_melanoma	Deletion - In frame
c.1258C>G; p.R420G; 11:119278540-119278540	skin	malignant_melanoma	Substitution - Missense
c.1713C>T; p.D571D; 11:119285338-119285338	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2463G>A; p.E821E; 11:119299523-119299523	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2024C>T; p.S675F; 11:119287934-119287934	skin	malignant_melanoma	Substitution - Missense
c.1250C>T; p.P417L; 11:119278532-119278532	skin	malignant_melanoma	Substitution - Missense
c.1250C>T; p.P417L; 11:119278532-119278532	skin	malignant_melanoma	Substitution - Missense
c.298T>G; p.S100A; 11:119232550-119232550	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1254C>A; p.F418L; 11:119278536-119278536	skin; ankle	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.2446G>A; p.G816S; 11:119299506-119299506	skin	malignant_melanoma	Substitution - Missense
c.2630C>T; p.A877V; 11:119299690-119299690	skin	malignant_melanoma	Substitution - Missense
c.2291C>T; p.P764L; 11:119298397-119298397	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1082_1095+9del23; p.?; 11:119277831-119277853	skin	malignant_melanoma	Unknown
c.1246T>A; p.C416S; 11:119278528-119278528	skin	malignant_melanoma	Substitution - Missense
c.2234C>T; p.T745I; 11:119297464-119297464	skin	malignant_melanoma	Substitution - Missense
c.2465G>C; p.R822T; 11:119299525-119299525	soft_tissue; fat	liposarcoma; myxoid-round_cell	Substitution - Missense
c.1007+2T>C; p.?; 11:119276136-119276136	stomach	carcinoma; adenocarcinoma	Unknown
c.2445A>C; p.E815D; 11:119299505-119299505	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2556C>T; p.T852T; 11:119299616-119299616	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2291C>A; p.P764H; 11:119298397-119298397	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1010A>G; p.Y337C; 11:119277759-119277759	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1175_1228-37del229; p.?; 11:119278245-119278473	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.1818T>C; p.S606S; 11:119285443-119285443	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1480delC; p.P495fs*120; 11:119285017-119285017	thyroid	carcinoma; anaplastic_carcinoma	Deletion - Frameshift
c.1972G>C; p.E658Q; 11:119287882-119287882	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1208C>G; p.S403C; 11:119278278-119278278	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1973A>T; p.E658V; 11:119287883-119287883	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2599C>T; p.Q867*; 11:119299659-119299659	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2150C>T; p.S717L; 11:119297031-119297031	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2495A>T; p.N832I; 11:119299555-119299555	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2495A>T; p.N832I; 11:119299555-119299555	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1310G>T; p.R437I; 11:119278592-119278592	urinary_tract; bladder	carcinoma	Substitution - Missense
c.468C>T; p.L156L; 11:119271759-119271759	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1407G>A; p.M469I; 11:119278689-119278689	urinary_tract; bladder	carcinoma	Substitution - Missense

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COSMIC confirmed somatic mutation [Top]

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