Entrez Gene

Basic Information
Gene ID	2146
Name	EZH2
Synonymous	ENX-1\|ENX1\|EZH1\|KMT6\|KMT6A;enhancer of zeste homolog 2 (Drosophila);EZH2;enhancer of zeste homolog 2 (Drosophila)
Definition	enhancer of zeste 2\|histone-lysine N-methyltransferase EZH2\|lysine N-methyltransferase 6
Position	7q35-q36
Gene Type	protein-coding
Gene Mutation:	PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation

Variant (Variant; Chr; Position)	Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin)	Disease (CancerType; ValidationStatus; SequencingType)
PCGP germline mutation [Top]
EZH2_G159R; chr7; 148526829	SUB; MISSENSE; C; C/T; GERMLINE	HYPO; VALID;
EZH2_G159R; chr7; 148526829	SUB; MISSENSE; C; C/T; GERMLINE	HYPO; VALID; EXOME
EZH2_R684H; chr7; 148506461	SUB; MISSENSE; C; C/T; GERMLINE	HYPO; VALID;
EZH2_R684H; chr7; 148506461	SUB; MISSENSE; C; C/T; GERMLINE	HYPO; VALID; EXOME

Variant (Variant; Chr; Position)	Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin)	Disease (CancerType; ValidationStatus; SequencingType)
PCGP somatic mutation [Top]
EZH2_N675K; chr7; 148507429	SUB; MISSENSE; G; G/T; SOMATIC	HYPO; VALID; WGS
EZH2_R684H; chr7; 148506461	SUB; MISSENSE; C; C/T; SOMATIC	T-ALL; VALID; WGS
EZH2_S690L; chr7; 148506428	SUB; MISSENSE; G; A/A; SOMATIC	T-ALL; VALID;
EZH2_F723fs; chr7; 148506177	IFRAMESHIFT; -; -/A; SOMATIC	T-ALL; VALID;
EZH2_G5R; chr7; 148544378	SUB; MISSENSE; C; C/T; SOMATIC	T-ALL; VALID;
EZH2_S21fs; chr7; 148544328	IFRAMESHIFT; -; -/GGGC; SOMATIC	T-ALL; VALID;
EZH2_I646F; chr7; 148507503	SUB; MISSENSE; T; T/A; SOMATIC	T-ALL; VALID;
EZH2_N688Y; chr7; 148506435	SUB; MISSENSE; T; T/A; SOMATIC	T-ALL; VALID;
EZH2_V737D; chr7; 148504769	SUB; MISSENSE; A; A/T; SOMATIC	T-ALL; VALID;
EZH2_F723fs; chr7; 148506177	IFRAMESHIFT; -; -/A; SOMATIC	T-ALL; VALID;
EZH2_P572L; chr7; 148511172	SUB; MISSENSE; G; G/A; SOMATIC	T-ALL; VALID;
EZH2_V442D; chr7; 148514384	SUB; MISSENSE; A; A/T; SOMATIC	T-ALL; VALID;

Mutation (CDS; AA; Chr)	Site	Histology
COSMIC somatic mutation [Top]
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>C; p.Y646H; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>C; p.Y646H; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>C; p.Y646H; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.2075C>T; p.A692V;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm
c.492_493insGT; p.F165fs*3;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blastic_plasmacytoid_dentritic_cell_neoplasm
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1920T>A; p.N640K; 7:148139677-148139677	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>G; p.Y646C; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>C; p.Y646H; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>C; p.Y646H; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>C; p.Y646H; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>C; p.Y646H; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; mediastinum	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>C; p.Y646H; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>C; p.Y646H; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.2187_2188insT; p.D730fs*1; 7:148137103-148137104	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.492_493insGT; p.F165fs*3;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blastic_plasmacytoid_dentritic_cell_neoplasm
c.745G>A; p.E249K; 7:148154641-148154641	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.2195+1G>A; p.?; 7:148137095-148137095	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.2020T>G; p.L674V; 7:148138367-148138367	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.1505+1G>T; p.?; 7:148144708-148144708	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.1119_1120insC; p.T374fs*3; 7:148146022-148146023	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.703_703G>AA; p.G235fs*11; 7:148155214-148155214	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.1983_1983delA; p.V662fs*13; 7:148138404-148138404	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.2068C>T; p.R690C; 7:148137377-148137377	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.2025C>A; p.N675K; 7:148138362-148138362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.1212_1216delGAAGA; p.K405fs*2; 7:148145926-148145930	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.2069G>A; p.R690H; 7:148137376-148137376	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.2069G>A; p.R690H; 7:148137376-148137376	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.2078A>C; p.N693T; 7:148137367-148137367	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.2080C>T; p.H694Y; 7:148137365-148137365	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.2143_2143delA; p.I715fs*25; 7:148137148-148137148	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.2180_2182TGT>GG; p.L727fs*13; 7:148137109-148137111	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable
c.2054_2054delA; p.K685fs*12; 7:148137391-148137391	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.982C>T; p.Q328*; 7:148147638-148147638	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia
c.1992T>G; p.D664E; 7:148138395-148138395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia
c.863G>A; p.R288Q; 7:148154523-148154523	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia
c.729-2delA; p.?; 7:148154659-148154659	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.2187_2188insT; p.D730fs*1; 7:148137103-148137104	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable
c.619C>T; p.R207*; 7:148156771-148156771	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.1728C>G; p.C576W; 7:148142107-148142107	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable
c.1992T>A; p.D664E; 7:148138395-148138395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable
c.786_787insC; p.N263fs*8; 7:148154599-148154600	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia
c.73C>T; p.R25*; 7:148175251-148175251	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.1691_1691delG; p.G564fs*111; 7:148142144-148142144	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.2068C>T; p.R690C; 7:148137377-148137377	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia
c.2050C>T; p.R684C; 7:148137395-148137395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.1200_1203delAGAA; p.E401fs*22; 7:148145939-148145942	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia
c.188_189insA; p.R64fs*18; 7:148174552-148174553	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia
c.574G>A; p.D192N; 7:148156816-148156816	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.2079T>A; p.N693K; 7:148137366-148137366	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.1033G>A; p.A345T; 7:148146109-148146109	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera
c.754C>G; p.L252V; 7:148154632-148154632	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia
c.2138T>C; p.I713T; 7:148137153-148137153	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.2187_2188insT; p.D730fs*1; 7:148137103-148137104	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.1992_1997delTAAATA; p.K665_Y666del; 7:148138390-148138395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.727A>C; p.K243Q; 7:148155190-148155190	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_eosinophilic_leukaemia-hypereosinophilic_syndrome
c.763G>A; p.A255T; 7:148154623-148154623	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia
c.2050C>T; p.R684C; 7:148137395-148137395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.444_445insGAA; p.E148_L149insE; 7:148157792-148157793	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.1966_1966delG; p.A656fs*19; 7:148138421-148138421	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.745G>A; p.E249K; 7:148154641-148154641	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.1967C>T; p.A656V; 7:148138420-148138420	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.755_756insC; p.G254fs*6; 7:148154630-148154631	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.2191T>G; p.Y731D; 7:148137100-148137100	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.172C>T; p.Q58*; 7:148174569-148174569	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.1712G>A; p.C571Y; 7:148142123-148142123	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.730T>G; p.Y244D; 7:148154656-148154656	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.890A>G; p.H297R; 7:148154496-148154496	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.216_217delTT; p.S73fs*8; 7:148174524-148174525	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.1978G>C; p.G660R; 7:148138409-148138409	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.434T>G; p.F145C; 7:148157803-148157803	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.1175_1176delAA; p.E392fs*7; 7:148145966-148145967	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.1774_1777delACTT; p.T592fs*82; 7:148142058-148142061	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.965A>G; p.N322S; 7:148147655-148147655	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.1991A>T; p.D664V; 7:148138396-148138396	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.2078A>T; p.N693I; 7:148137367-148137367	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.949G>T; p.E317*; 7:148147671-148147671	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.1513_1513delG; p.A505fs*9; 7:148143564-148143564	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.184C>T; p.Q62*; 7:148174557-148174557	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.2199C>A; p.Y733*; 7:148135728-148135728	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.2199C>A; p.Y733*; 7:148135728-148135728	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis
c.2069G>A; p.R690H; 7:148137376-148137376	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia
c.2069G>A; p.R690H; 7:148137376-148137376	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.2069G>A; p.R690H; 7:148137376-148137376	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1936T>C; p.Y646H; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1936T>C; p.Y646H; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1936T>C; p.Y646H; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646?;	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646?;	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646?;	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646?;	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646?;	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646?;	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646?;	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646?;	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646?;	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646?;	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646?;	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646?;	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646?;	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646?;	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646?;	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.450_450delA; p.N152fs*15; 7:148157787-148157787	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.1937A>G; p.Y646C; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; AIDS_related_lymphoma
c.1936T>C; p.Y646H; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; AIDS_related_lymphoma
c.1907C>T; p.P636L; 7:148139690-148139690	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; AIDS_related_lymphoma
c.475G>A; p.G159R; 7:148157762-148157762	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.2035G>A; p.V679M; 7:148137410-148137410	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.2035G>A; p.V679M; 7:148137410-148137410	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis
c.2035G>A; p.V679M; 7:148137410-148137410	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.965A>G; p.N322S; 7:148147655-148147655	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.965A>G; p.N322S; 7:148147655-148147655	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.965A>G; p.N322S; 7:148147655-148147655	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.863G>A; p.R288Q; 7:148154523-148154523	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.446T>A; p.L149Q; 7:148157791-148157791	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.2110G>C; p.V704L; 7:148137335-148137335	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.449T>C; p.I150T; 7:148157788-148157788	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.2029G>C; p.D677H; 7:148138358-148138358	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.1718C>T; p.T573I; 7:148142117-148142117	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.1718C>T; p.T573I; 7:148142117-148142117	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.2069G>A; p.R690H; 7:148137376-148137376	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.2069G>A; p.R690H; 7:148137376-148137376	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.403G>A; p.G135R; 7:148157834-148157834	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.1697G>A; p.R566H; 7:148142138-148142138	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.187C>T; p.R63*; 7:148174554-148174554	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.394C>T; p.P132S; 7:148157843-148157843	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.179G>A; p.W60*; 7:148174562-148174562	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.2177A>T; p.E726V; 7:148137114-148137114	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.434T>C; p.F145S; 7:148157803-148157803	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.1682G>A; p.R561H; 7:148142153-148142153	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.1657C>T; p.Q553*; 7:148142954-148142954	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.2187_2188insT; p.D730fs*1; 7:148137103-148137104	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.2199C>A; p.Y733*; 7:148135728-148135728	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.247-2A>G; p.?; 7:148160777-148160777	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.2195+1G>A; p.?; 7:148137095-148137095	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.484+13C>T; p.?; 7:148157740-148157740	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.625+1G>T; p.?; 7:148156764-148156764	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.1947+39_1947+42delATAC; p.?; 7:148139608-148139611	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis
c.949_950delGA; p.E317fs*29; 7:148147670-148147671	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>C; p.Y646H; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.1672+2_1673+3insCCT; p.?; 7:148142936-148142937	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.435C>A; p.F145L; 7:148157802-148157802	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.397T>C; p.Y133H; 7:148157840-148157840	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.387T>A; p.H129Q; 7:148157850-148157850	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.475G>A; p.G159R; 7:148157762-148157762	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1742C>T; p.A581V; 7:148142093-148142093	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1216_1219delAAAG; p.K406fs*17; 7:148145923-148145926	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.797G>A; p.G266E; 7:148154589-148154589	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.T393M;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.E549*;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.C606Y;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.P577L;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.2226_2227insAAAACC; p.V742_G743insKT; 7:148135700-148135701	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.Y731*;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.1559A>C; p.N520T;	small_intestine	carcinoid-endocrine_tumour
c.1936T>A; p.Y646N; 7:148139661-148139661	parathyroid	adenoma
c.1936T>A; p.Y646N; 7:148139661-148139661	parathyroid	adenoma
c.324_324delC; p.I109fs*1; 7:148160698-148160698	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage
c.1697G>A; p.R566H; 7:148142138-148142138	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage
c.?; p.E242*;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable
c.?; p.S76*;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable
c.?; p.F670C;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; retroperitoneum	lymphoid_neoplasm; follicular_lymphoma
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; B_cell_lymphoma_unspecified
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; intraabdominal	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>G; p.Y646C; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>G; p.Y646C; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; B_cell_lymphoma_unspecified
c.862C>T; p.R288*; 7:148154524-148154524	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.2079T>A; p.N693K; 7:148137366-148137366	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia
c.1991A>G; p.D664G;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia
c.1922A>T; p.E641V; 7:148139675-148139675	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.1922A>T; p.E641V; 7:148139675-148139675	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.65_66delAG; p.E22fs*14; 7:148175258-148175259	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.305A>G; p.N102S; 7:148160717-148160717	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.2020T>G; p.L674V; 7:148138367-148138367	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.305A>G; p.N102S; 7:148160717-148160717	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1657C>T; p.Q553*; 7:148142954-148142954	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.2045C>T; p.A682V; 7:148137400-148137400	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.2228_2229insGCCCCG; p.G743_I744insPR; 7:148135698-148135699	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.2232_2233insATC; p.I744_E745insI; 7:148135694-148135695	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.933_933T>GGCATA; p.Y311fs*1; 7:148147687-148147687	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1642_1643insT; p.C548fs*2; 7:148142968-148142969	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1487A>G; p.K496R; 7:148144727-148144727	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1526G>C; p.R509T; 7:148143551-148143551	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1588C>A; p.H530N; 7:148143023-148143023	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1436C>A; p.S479Y; 7:148144778-148144778	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.G395fs*3;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.?; p.S380*;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.?; p.L101P;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646H;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646H;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646H;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646C;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.K634E;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.K634E;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646S;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.A692V;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.K634E;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.V637A;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646S;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646S;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646S;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646S;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646S;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646S;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646S;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646S;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646S;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646S;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646S;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646H;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646H;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646H;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646H;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646H;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646H;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646H;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646H;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646H;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646C;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646C;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.Y646C;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.V679M;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.A682G;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.A682G;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.A682G;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.A682G;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.A682G;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.A682G;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.A682G;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.A682G;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.A682G;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.A692V;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.A692V;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.A692V;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.A692V;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.A692V;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.?; p.A692V;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.118A>T; p.S40C;	lung	carcinoma; small_cell_carcinoma
c.13G>T; p.G5W; 7:148175311-148175311	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.837C>G; p.H279Q;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blastic_plasmacytoid_dentritic_cell_neoplasm
c.1505G>A; p.R502Q; 7:148144709-148144709	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blastic_plasmacytoid_dentritic_cell_neoplasm
c.1135G>T; p.E379*; 7:148146007-148146007	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.863G>A; p.R288Q; 7:148154523-148154523	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.1969G>C; p.D657H; 7:148138418-148138418	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.898T>C; p.C300R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1072C>T; p.R358C;	large_intestine; colon	carcinoma; adenocarcinoma
c.1283A>C; p.N428T;	large_intestine; colon	carcinoma; adenocarcinoma
c.2173G>A; p.E725K;	large_intestine; colon	carcinoma; adenocarcinoma
c.507A>C; p.E169D;	large_intestine; colon	carcinoma; adenocarcinoma
c.1876G>A; p.V626M; 7:148139721-148139721	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>C; p.Y646H; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1477C>T; p.P493S; 7:148144737-148144737	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.2045C>G; p.A682G;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>C; p.Y646H; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.1937A>G; p.Y646C; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.2024A>G; p.N675S;	liver	carcinoma; hepatocellular_carcinoma
c.2152_2153delAA; p.K718fs*12; 7:148137138-148137139	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.2069G>A; p.R690H; 7:148137376-148137376	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>C; p.Y646H; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.2045C>G; p.A682G;	haematopoietic_and_lymphoid_tissue; tonsil	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.?; p.R690H;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.T723S;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.R690H;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.R690H;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1525A>G; p.R509G; 7:148143552-148143552	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1546+1G>A; p.?;	oesophagus	carcinoma; adenocarcinoma
c.1012G>C; p.E338Q;	oesophagus	carcinoma; adenocarcinoma
c.512T>C; p.F171S;	oesophagus; lower_third	carcinoma; adenocarcinoma
c.1477C>T; p.P493S; 7:148144737-148144737	oesophagus	carcinoma; adenocarcinoma
c.1936T>C; p.Y646H; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.1610G>A; p.S537N;	lung	carcinoma; small_cell_carcinoma
c.492G>T; p.G164G;	liver	carcinoma
c.791T>G; p.I264R;	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma
c.542A>G; p.Y181C;	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma
c.1613C>T; p.S538L;	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma
c.1936T>C; p.Y646H; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma
c.2083T>C; p.S695P;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Hodgkin_lymphoma
c.2159C>T; p.A720V;	lung	carcinoma; adenocarcinoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	skin; neck	malignant_melanoma
c.625+1G>A; p.?; 7:148156764-148156764	skin	malignant_melanoma
c.1381_1382insTA; p.R461fs*3; 7:148145275-148145276	large_intestine; colon	carcinoma; adenocarcinoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.2045C>G; p.A682G;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.2051G>A; p.R684H;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>G; p.Y646C; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1937A>G; p.Y646C; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.1937A>C; p.Y646S; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1698C>T; p.R566R;	lung	carcinoma; squamous_cell_carcinoma
c.1135G>C; p.E379Q;	lung	carcinoma; squamous_cell_carcinoma
c.1033G>A; p.A345T; 7:148146109-148146109	lung	carcinoma; squamous_cell_carcinoma
c.1667C>G; p.S556*;	lung	carcinoma; squamous_cell_carcinoma
c.1880C>A; p.A627E;	lung	carcinoma; adenocarcinoma
c.1029C>G; p.L343L;	lung	carcinoma; squamous_cell_carcinoma
c.958C>T; p.L320L;	lung	carcinoma; squamous_cell_carcinoma
c.191G>T; p.R64M;	lung	carcinoma; adenocarcinoma
c.1657C>G; p.Q553E;	lung	carcinoma; squamous_cell_carcinoma
c.2136G>A; p.R712R;	lung	carcinoma; squamous_cell_carcinoma
c.1505G>A; p.R502Q; 7:148144709-148144709	lung	carcinoma; adenocarcinoma
c.101G>T; p.R34L;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.1036G>A; p.E346K;	lung; right_lower_lobe	carcinoma; adenocarcinoma
c.2002T>A; p.C668S;	large_intestine; caecum	carcinoma; adenocarcinoma
c.926A>G; p.N309S;	large_intestine; colon	carcinoma; adenocarcinoma
c.621A>G; p.R207R;	large_intestine; colon	carcinoma; adenocarcinoma
c.185A>G; p.Q62R;	large_intestine; caecum	carcinoma; adenocarcinoma
c.727A>G; p.K243E;	large_intestine; colon	carcinoma; adenocarcinoma
c.552T>C; p.D184D;	large_intestine; colon	carcinoma; adenocarcinoma
c.575A>G; p.D192G;	large_intestine; colon	carcinoma; adenocarcinoma
c.185A>G; p.Q62R;	large_intestine; colon	carcinoma; adenocarcinoma
c.451A>C; p.K151Q;	large_intestine; caecum	carcinoma; adenocarcinoma
c.184C>T; p.Q62*; 7:148174557-148174557	large_intestine; colon	carcinoma; adenocarcinoma
c.620G>T; p.R207L;	large_intestine; colon	carcinoma; adenocarcinoma
c.1741G>A; p.A581T;	large_intestine; colon	carcinoma; adenocarcinoma
c.1911G>A; p.V637V;	large_intestine; colon	carcinoma; adenocarcinoma
c.620G>A; p.R207Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.2080C>T; p.H694Y; 7:148137365-148137365	large_intestine; caecum	carcinoma; adenocarcinoma
c.638G>A; p.R213H;	large_intestine; colon	carcinoma; adenocarcinoma
c.2137A>G; p.I713V;	large_intestine; colon	carcinoma; adenocarcinoma
c.1990G>T; p.D664Y;	large_intestine; colon	carcinoma; adenocarcinoma
c.764C>T; p.A255V;	large_intestine; colon	carcinoma; adenocarcinoma
c.2058T>C; p.G686G;	large_intestine; caecum	carcinoma; adenocarcinoma
c.2173G>A; p.E725K;	large_intestine; caecum	carcinoma; adenocarcinoma
c.507A>C; p.E169D;	large_intestine; colon	carcinoma; adenocarcinoma
c.1221T>C; p.D407D;	large_intestine; colon	carcinoma; adenocarcinoma
c.2230_2231insTGCAT; p.I744fs*>10;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.2231_2232insTGCAT; p.E745fs*>9;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.2195+1G>A; p.?; 7:148137095-148137095	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.2069G>A; p.R690H; 7:148137376-148137376	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1100G>A; p.S367N;	large_intestine; caecum	carcinoma; adenocarcinoma
c.620G>C; p.R207P;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1034C>A; p.A345D;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1931C>G; p.S644*;	breast	carcinoma
c.2004C>T; p.C668C;	endometrium	carcinoma; endometrioid_carcinoma
c.1634A>C; p.Q545P;	endometrium	carcinoma; endometrioid_carcinoma
c.1505G>A; p.R502Q; 7:148144709-148144709	endometrium	carcinoma; endometrioid_carcinoma
c.697G>T; p.D233Y;	endometrium	carcinoma; endometrioid_carcinoma
c.484G>T; p.E162*;	endometrium	carcinoma; endometrioid_carcinoma
c.2033T>G; p.F678C;	endometrium	carcinoma; endometrioid_carcinoma
c.233G>A; p.R78H;	endometrium	carcinoma; endometrioid_carcinoma
c.2233G>A; p.E745K;	endometrium	carcinoma; endometrioid_carcinoma
c.185A>G; p.Q62R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1730C>T; p.P577L;	large_intestine; caecum	carcinoma; adenocarcinoma
c.2193C>T; p.Y731Y;	large_intestine; caecum	carcinoma; adenocarcinoma
c.949G>A; p.E317K;	large_intestine; caecum	carcinoma; adenocarcinoma
c.745G>A; p.E249K; 7:148154641-148154641	large_intestine; caecum	carcinoma; adenocarcinoma
c.620G>A; p.R207Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.182A>G; p.K61R;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.736G>T; p.E246*; 7:148154650-148154650	endometrium	carcinoma; endometrioid_carcinoma
c.1201G>T; p.E401*;	endometrium	carcinoma; endometrioid_carcinoma
c.867T>C; p.C289C;	endometrium	carcinoma; endometrioid_carcinoma
c.1060C>T; p.R354C;	endometrium	carcinoma; endometrioid_carcinoma
c.17A>T; p.K6M;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.721A>C; p.K241Q;	endometrium	carcinoma; endometrioid_carcinoma
c.2085G>A; p.S695S;	endometrium	carcinoma; endometrioid_carcinoma
c.119G>T; p.S40I;	large_intestine; colon	carcinoma; adenocarcinoma
c.745G>A; p.E249K; 7:148154641-148154641	large_intestine; colon	carcinoma; adenocarcinoma
c.2051G>A; p.R684H;	large_intestine; colon	carcinoma; adenocarcinoma
c.1968T>C; p.A656A;	large_intestine; colon	carcinoma; adenocarcinoma
c.863G>A; p.R288Q; 7:148154523-148154523	large_intestine; colon	carcinoma; adenocarcinoma
c.619C>A; p.R207R;	large_intestine; caecum	carcinoma; adenocarcinoma
c.804T>C; p.N268N;	large_intestine; caecum	carcinoma; adenocarcinoma
c.184C>A; p.Q62K;	large_intestine; colon	carcinoma; adenocarcinoma
c.434T>C; p.F145S; 7:148157803-148157803	large_intestine; caecum	carcinoma; adenocarcinoma
c.1872T>G; p.S624S;	large_intestine; caecum	carcinoma; adenocarcinoma
c.2079T>C; p.N693N;	large_intestine; colon	carcinoma; adenocarcinoma
c.1768T>A; p.C590S;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.2178G>T; p.E726D;	endometrium	carcinoma; endometrioid_carcinoma
c.2233G>A; p.E745K;	endometrium	carcinoma; endometrioid_carcinoma
c.620G>A; p.R207Q;	endometrium	carcinoma; endometrioid_carcinoma
c.727A>G; p.K243E;	large_intestine; caecum	carcinoma; adenocarcinoma
c.2193C>T; p.Y731Y;	large_intestine; colon	carcinoma; adenocarcinoma
c.2022G>A; p.L674L;	large_intestine; colon	carcinoma; adenocarcinoma
c.731A>G; p.Y244C;	large_intestine; colon	carcinoma; adenocarcinoma
c.2139A>G; p.I713M;	large_intestine; colon	carcinoma; adenocarcinoma
c.1990G>A; p.D664N;	large_intestine; colon	carcinoma; adenocarcinoma
c.1525A>T; p.R509*;	large_intestine; caecum	carcinoma; adenocarcinoma
c.620G>A; p.R207Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.730T>C; p.Y244H;	large_intestine; colon	carcinoma; adenocarcinoma
c.75A>T; p.R25R;	large_intestine; colon	carcinoma; adenocarcinoma
c.619C>A; p.R207R;	large_intestine; colon	carcinoma; adenocarcinoma
c.755T>C; p.L252P;	large_intestine; colon	carcinoma; adenocarcinoma
c.619C>A; p.R207R;	large_intestine; colon	carcinoma; adenocarcinoma
c.983A>G; p.Q328R;	large_intestine; colon	carcinoma; adenocarcinoma
c.2079T>C; p.N693N;	large_intestine; caecum	carcinoma; adenocarcinoma
c.619C>A; p.R207R;	large_intestine; colon	carcinoma; adenocarcinoma
c.576T>C; p.D192D;	large_intestine; colon	carcinoma; adenocarcinoma
c.864A>G; p.R288R;	large_intestine; rectum	carcinoma; adenocarcinoma
c.849G>A; p.T283T;	large_intestine; rectum	carcinoma; adenocarcinoma
c.555C>T; p.D185D;	breast	carcinoma
c.747A>G; p.E249E;	large_intestine; colon	carcinoma; adenocarcinoma
c.890A>G; p.H297R; 7:148154496-148154496	large_intestine; colon	carcinoma; adenocarcinoma
c.1689G>T; p.P563P;	urinary_tract; bladder	carcinoma
c.620G>A; p.R207Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.1990G>T; p.D664Y;	large_intestine; colon	carcinoma; adenocarcinoma
c.983A>G; p.Q328R;	large_intestine; colon	carcinoma; adenocarcinoma
c.620G>A; p.R207Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.1919A>G; p.N640S;	large_intestine; caecum	carcinoma; adenocarcinoma
c.951A>G; p.E317E;	large_intestine; colon	carcinoma; adenocarcinoma
c.435C>T; p.F145F;	large_intestine; colon	carcinoma; adenocarcinoma
c.475G>A; p.G159R; 7:148157762-148157762	large_intestine; colon	carcinoma; adenocarcinoma
c.2137A>G; p.I713V;	large_intestine; caecum	carcinoma; adenocarcinoma
c.434_435TC>AT; p.F145Y;	urinary_tract; bladder	carcinoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1937A>T; p.Y646F; 7:148139660-148139660	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1936T>A; p.Y646N; 7:148139661-148139661	skin	malignant_melanoma
c.1040G>A; p.R347Q;	skin	malignant_melanoma
c.686C>T; p.S229L;	skin	malignant_melanoma
c.1936T>A; p.Y646N; 7:148139661-148139661	skin	malignant_melanoma
c.1936T>A; p.Y646N; 7:148139661-148139661	skin; face	carcinoma; squamous_cell_carcinoma
c.1991A>C; p.D664A; 7:148138396-148138396	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS

PCGP germline mutation [Top]

PCGP somatic mutation [Top]

COSMIC somatic mutation [Top]