Entrez Gene

Basic Information
Gene ID	2146
Name	EZH2
Synonymous	enhancer of zeste 2 polycomb repressive complex 2 subunit;EZH2;enhancer of zeste 2 polycomb repressive complex 2 subunit
Definition	enhancer of zeste homolog 2\|histone-lysine N-methyltransferase EZH2\|lysine N-methyltransferase 6
Position	7q35-q36
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

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

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.11.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1981A>G; p.K661E; 7:148810381-148810381	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.625+1G>T; p.?; 7:148828739-148828739	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Unknown
c.1525A>T; p.R509*; 7:148815527-148815527	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2159C>T; p.A720V; 7:148809107-148809107	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1718C>T; p.T573I; 7:148814092-148814092	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1718C>T; p.T573I; 7:148814092-148814092	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.449T>C; p.I150T; 7:148829763-148829763	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1991A>G; p.D664G; 7:148810371-148810371	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.885C>T; p.F295F; 7:148826476-148826476	skin	malignant_melanoma	Substitution - coding silent
c.1991A>G; p.D664G; 7:148810371-148810371	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1154G>C; p.S385T; 7:148817963-148817963	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1991A>G; p.D664G; 7:148810371-148810371	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.677C>T; p.A226V; 7:148827215-148827215	skin	malignant_melanoma	Substitution - Missense
c.1283A>C; p.N428T; 7:148817349-148817349	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.128G>T; p.S43I; 7:148846588-148846588	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1728C>G; p.C576W; 7:148814082-148814082	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable	Substitution - Missense
c.2202C>T; p.S734S; 7:148807700-148807700	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1931C>G; p.S644*; 7:148811641-148811641	breast	carcinoma	Substitution - Nonsense
c.764C>T; p.A255V; 7:148826597-148826597	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1526G>C; p.R509T; 7:148815526-148815526	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2173G>A; p.E725K; 7:148809093-148809093	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.576T>C; p.D192D; 7:148828789-148828789	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.621A>G; p.R207R; 7:148828744-148828744	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2173G>A; p.E725K; 7:148809093-148809093	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.782C>A; p.T261N; 7:148826579-148826579	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.435C>A; p.F145L; 7:148829777-148829777	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.484G>T; p.E162*; 7:148829728-148829728	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.728+7A>G; p.?; 7:148827157-148827157	liver	carcinoma	Unknown
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; intraabdominal	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.2139A>G; p.I713M; 7:148809127-148809127	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.728+7A>G; p.?; 7:148827157-148827157	liver	carcinoma	Unknown
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.2139A>G; p.I713M; 7:148809127-148809127	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.184C>A; p.Q62K; 7:148846532-148846532	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	skin; neck	malignant_melanoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2175_2175delA; p.E726fs*14; 7:148809091-148809091	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Deletion - Frameshift
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; mediastinum	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.434_435TC>AT; p.F145Y; 7:148829777-148829778	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	skin	malignant_melanoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; B_cell_lymphoma_unspecified	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1159A>T; p.R387W; 7:148817958-148817958	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	parathyroid	adenoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.2029+1G>C; p.?; 7:148810332-148810332	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Unknown
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.184C>T; p.Q62*; 7:148846532-148846532	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1936T>A; p.Y646N; 7:148811636-148811636	skin	malignant_melanoma	Substitution - Missense
c.184C>T; p.Q62*; 7:148846532-148846532	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1253G>A; p.R418Q; 7:148817379-148817379	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	skin	malignant_melanoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	parathyroid	adenoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	skin	malignant_melanoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1253G>A; p.R418Q; 7:148817379-148817379	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1544A>G; p.K515R; 7:148815508-148815508	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1770T>G; p.C590W; 7:148814040-148814040	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2143_2143delA; p.I715fs*25; 7:148809123-148809123	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.1967C>T; p.A656V; 7:148810395-148810395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1967C>T; p.A656V; 7:148810395-148810395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.179G>A; p.W60*; 7:148846537-148846537	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Nonsense
c.797G>A; p.G266E; 7:148826564-148826564	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.729-2delA; p.?; 7:148826634-148826634	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Unknown
c.119G>T; p.S40I; 7:148846597-148846597	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.755_756insC; p.G254fs*6; 7:148826605-148826606	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Insertion - Frameshift
c.1885T>C; p.W629R; 7:148811687-148811687	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Substitution - Missense
c.425A>T; p.D142V; 7:148829787-148829787	skin	malignant_melanoma	Substitution - Missense
c.1657C>G; p.Q553E; 7:148814929-148814929	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.75A>T; p.R25R; 7:148847224-148847224	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1250C>T; p.S417F; 7:148817382-148817382	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.747A>G; p.E249E; 7:148826614-148826614	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1250C>T; p.S417F; 7:148817382-148817382	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1391G>A; p.G464E; 7:148817241-148817241	skin	malignant_melanoma	Substitution - Missense
c.1559A>C; p.N520T; 7:148815027-148815027	small_intestine	carcinoid-endocrine_tumour	Substitution - Missense
c.374A>T; p.E125V; 7:148829838-148829838	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.754C>G; p.L252V; 7:148826607-148826607	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.2025C>A; p.N675K; 7:148810337-148810337	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.2025C>A; p.N675K; 7:148810337-148810337	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.745G>A; p.E249K; 7:148826616-148826616	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.745G>A; p.E249K; 7:148826616-148826616	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.745G>A; p.E249K; 7:148826616-148826616	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.745G>A; p.E249K; 7:148826616-148826616	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.745G>A; p.E249K; 7:148826616-148826616	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2008T>C; p.F670L; 7:148810354-148810354	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1505G>A; p.R502Q; 7:148816684-148816684	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1505G>A; p.R502Q; 7:148816684-148816684	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1505G>A; p.R502Q; 7:148816684-148816684	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm	Substitution - Missense
c.721A>C; p.K241Q; 7:148827171-148827171	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2187_2188insT; p.D730fs*1; 7:148809078-148809079	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable	Insertion - Frameshift
c.2187_2188insT; p.D730fs*1; 7:148809078-148809079	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Insertion - Frameshift
c.1919A>G; p.N640S; 7:148811653-148811653	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2187_2188insT; p.D730fs*1; 7:148809078-148809079	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.2187_2188insT; p.D730fs*1; 7:148809078-148809079	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Insertion - Frameshift
c.983A>G; p.Q328R; 7:148819612-148819612	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.983A>G; p.Q328R; 7:148819612-148819612	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.13G>T; p.G5W; 7:148847286-148847286	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1175_1176delAA; p.E392fs*7; 7:148817941-148817942	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - Frameshift
c.2136G>A; p.R712R; 7:148809130-148809130	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.898T>C; p.C300R; 7:148826463-148826463	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2193C>T; p.Y731Y; 7:148809073-148809073	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2193C>T; p.Y731Y; 7:148809073-148809073	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1036G>A; p.E346K; 7:148818081-148818081	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1642_1643insT; p.C548fs*2; 7:148814943-148814944	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1368C>T; p.F456F; 7:148817264-148817264	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.172C>T; p.Q58*; 7:148846544-148846544	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; AIDS_related_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.101G>T; p.R34L; 7:148847198-148847198	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1920T>A; p.N640K; 7:148811652-148811652	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.2075C>T; p.A692V; 7:148809345-148809345	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.937C>T; p.R313W; 7:148819658-148819658	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.553G>C; p.D185H; 7:148828812-148828812	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.450_450delA; p.N152fs*15; 7:148829762-148829762	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.553G>C; p.D185H; 7:148828812-148828812	thyroid	other; neoplasm	Substitution - Missense
c.1712G>A; p.C571Y; 7:148814098-148814098	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.965A>G; p.N322S; 7:148819630-148819630	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.434T>C; p.F145S; 7:148829778-148829778	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.965A>G; p.N322S; 7:148819630-148819630	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.434T>C; p.F145S; 7:148829778-148829778	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.434T>C; p.F145S; 7:148829778-148829778	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.965A>G; p.N322S; 7:148819630-148819630	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.965A>G; p.N322S; 7:148819630-148819630	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.965A>G; p.N322S; 7:148819630-148819630	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.620G>A; p.R207Q; 7:148828745-148828745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.620G>A; p.R207Q; 7:148828745-148828745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1236C>T; p.S412S; 7:148817881-148817881	skin	malignant_melanoma	Substitution - coding silent
c.620G>A; p.R207Q; 7:148828745-148828745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.216_217delTT; p.S73fs*8; 7:148846499-148846500	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.620G>A; p.R207Q; 7:148828745-148828745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.620G>A; p.R207Q; 7:148828745-148828745	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.620G>A; p.R207Q; 7:148828745-148828745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.619C>T; p.R207*; 7:148828746-148828746	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.522G>T; p.L174F; 7:148828843-148828843	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.247-2A>G; p.?; 7:148832752-148832752	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Unknown
c.1774_1777delACTT; p.T592fs*82; 7:148814033-148814036	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.1978G>C; p.G660R; 7:148810384-148810384	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1436C>A; p.S479Y; 7:148816753-148816753	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2000T>C; p.M667T; 7:148810362-148810362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2000T>C; p.M667T; 7:148810362-148810362	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.951A>G; p.E317E; 7:148819644-148819644	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2002T>A; p.C668S; 7:148810360-148810360	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2000T>C; p.M667T; 7:148810362-148810362	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2000T>C; p.M667T; 7:148810362-148810362	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.604G>T; p.D202Y; 7:148828761-148828761	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2054_2054delA; p.K685fs*12; 7:148809366-148809366	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - Frameshift
c.2085G>A; p.S695S; 7:148809335-148809335	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.387T>A; p.H129Q; 7:148829825-148829825	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1258C>G; p.Q420E; 7:148817374-148817374	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1003G>A; p.G335R; 7:148818114-148818114	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2024A>G; p.N675S; 7:148810338-148810338	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1976G>A; p.R659K; 7:148810386-148810386	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.324_324delC; p.I109fs*1; 7:148832673-148832673	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage	Deletion - Frameshift
c.233G>A; p.R78H; 7:148846483-148846483	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.233G>A; p.R78H; 7:148846483-148846483	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.475G>A; p.G159R; 7:148829737-148829737	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.475G>A; p.G159R; 7:148829737-148829737	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.475G>A; p.G159R; 7:148829737-148829737	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.619C>A; p.R207R; 7:148828746-148828746	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.619C>A; p.R207R; 7:148828746-148828746	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.619C>A; p.R207R; 7:148828746-148828746	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1691_1691delG; p.G564fs*111; 7:148814119-148814119	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - Frameshift
c.1588C>A; p.H530N; 7:148814998-148814998	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.619C>A; p.R207R; 7:148828746-148828746	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.512T>C; p.F171S; 7:148828853-148828853	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.458A>G; p.Y153C; 7:148829754-148829754	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.492G>T; p.G164G; 7:148828873-148828873	liver	carcinoma	Substitution - coding silent
c.492G>T; p.G164G; 7:148828873-148828873	liver	carcinoma	Substitution - coding silent
c.1582T>C; p.C528R; 7:148815004-148815004	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1730C>T; p.P577L; 7:148814080-148814080	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1634A>C; p.Q545P; 7:148814952-148814952	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.620G>C; p.R207P; 7:148828745-148828745	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1730C>T; p.P577L; 7:148814080-148814080	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2081A>G; p.H694R; 7:148809339-148809339	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; mast_cell_neoplasm	Substitution - Missense
c.1012G>C; p.E338Q; 7:148818105-148818105	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1212_1216delGAAGA; p.K405fs*2; 7:148817901-148817905	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.817C>T; p.Q273*; 7:148826544-148826544	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.46C>T; p.R16W; 7:148847253-148847253	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.926A>G; p.N309S; 7:148819669-148819669	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.394C>T; p.P132S; 7:148829818-148829818	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1992T>A; p.D664E; 7:148810370-148810370	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable	Substitution - Missense
c.620G>T; p.R207L; 7:148828745-148828745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.394C>T; p.P132S; 7:148829818-148829818	skin	malignant_melanoma	Substitution - Missense
c.745G>T; p.E249*; 7:148826616-148826616	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.703_703G>AA; p.G235fs*11; 7:148827189-148827189	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Complex - frameshift
c.2191T>A; p.Y731N; 7:148809075-148809075	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.118A>T; p.S40C; 7:148846598-148846598	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1525A>G; p.R509G; 7:148815527-148815527	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.562G>A; p.D188N; 7:148828803-148828803	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.1779_1780delTG; p.C593fs*4; 7:148814030-148814031	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.1990G>T; p.D664Y; 7:148810372-148810372	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1990G>T; p.D664Y; 7:148810372-148810372	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1834C>T; p.Q612*; 7:148813976-148813976	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.864A>G; p.R288R; 7:148826497-148826497	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1513_1513delG; p.A505fs*9; 7:148815539-148815539	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.1221T>C; p.D407D; 7:148817896-148817896	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.492_493insGT; p.F165fs*3; 7:148828872-148828873	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm	Insertion - Frameshift
c.2078A>C; p.N693T; 7:148809342-148809342	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.492_493insGT; p.F165fs*3; 7:148828872-148828873	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm	Insertion - Frameshift
c.1505+1G>T; p.?; 7:148816683-148816683	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Unknown
c.2137A>G; p.I713V; 7:148809129-148809129	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.118-4delT; p.?; 7:148846602-148846602	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Unknown
c.2137A>G; p.I713V; 7:148809129-148809129	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1100G>A; p.S367N; 7:148818017-148818017	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2178G>T; p.E726D; 7:148809088-148809088	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1682G>A; p.R561H; 7:148814128-148814128	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1697G>A; p.R566H; 7:148814113-148814113	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1697G>A; p.R566H; 7:148814113-148814113	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage	Substitution - Missense
c.446_447delTA; p.L149fs*5; 7:148829765-148829766	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Deletion - Frameshift
c.403G>A; p.G135R; 7:148829809-148829809	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1991A>C; p.D664A; 7:148810371-148810371	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.729-3C>T; p.?; 7:148826635-148826635	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2110G>C; p.V704L; 7:148809310-148809310	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.2233G>A; p.E745K; 7:148807669-148807669	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2233G>A; p.E745K; 7:148807669-148807669	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1968T>C; p.A656A; 7:148810394-148810394	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2228_2229insGCCCCG; p.G743_I744insPR; 7:148807673-148807674	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - In frame
c.2233G>A; p.E745K; 7:148807669-148807669	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2233G>A; p.E745K; 7:148807669-148807669	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.542A>G; p.Y181C; 7:148828823-148828823	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1546+1G>A; p.?; 7:148815505-148815505	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1029C>G; p.L343L; 7:148818088-148818088	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.444_445insGAA; p.E148_L149insE; 7:148829767-148829768	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Insertion - In frame
c.867T>C; p.C289C; 7:148826494-148826494	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2199C>A; p.Y733*; 7:148807703-148807703	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis	Substitution - Nonsense
c.2199C>A; p.Y733*; 7:148807703-148807703	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Nonsense
c.187C>T; p.R63*; 7:148846529-148846529	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Nonsense
c.2199C>A; p.Y733*; 7:148807703-148807703	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Nonsense
c.2168C>T; p.T723I; 7:148809098-148809098	breast	carcinoma	Substitution - Missense
c.1937A>G; p.Y646C; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>G; p.Y646C; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>G; p.Y646C; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; AIDS_related_lymphoma	Substitution - Missense
c.1937A>G; p.Y646C; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1937A>G; p.Y646C; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1937A>G; p.Y646C; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>G; p.Y646C; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1078A>G; p.R360G; 7:148818039-148818039	skin	malignant_melanoma	Substitution - Missense
c.1135G>C; p.E379Q; 7:148817982-148817982	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1201G>T; p.E401*; 7:148817916-148817916	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.555C>T; p.D185D; 7:148828810-148828810	breast	carcinoma	Substitution - coding silent
c.1798delG; p.D600fs*75; 7:148814012-148814012	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Deletion - Frameshift
c.555C>T; p.D185D; 7:148828810-148828810	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1033G>A; p.A345T; 7:148818084-148818084	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1033G>A; p.A345T; 7:148818084-148818084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Substitution - Missense
c.47G>A; p.R16Q; 7:148847252-148847252	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2045C>G; p.A682G; 7:148809375-148809375	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2045C>G; p.A682G; 7:148809375-148809375	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.2045C>G; p.A682G; 7:148809375-148809375	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1983_1983delA; p.V662fs*13; 7:148810379-148810379	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.2045C>G; p.A682G; 7:148809375-148809375	haematopoietic_and_lymphoid_tissue; tonsil	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1991A>T; p.D664V; 7:148810371-148810371	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.2045C>G; p.A682G; 7:148809375-148809375	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.786_787insC; p.N263fs*8; 7:148826574-148826575	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Insertion - Frameshift
c.625+1G>A; p.?; 7:148828739-148828739	skin	malignant_melanoma	Unknown
c.1742C>T; p.A581V; 7:148814068-148814068	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1876G>A; p.V626M; 7:148811696-148811696	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1876G>A; p.V626M; 7:148811696-148811696	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1876G>A; p.V626M; 7:148811696-148811696	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1876G>A; p.V626M; 7:148811696-148811696	oesophagus	carcinoma	Substitution - Missense
c.1876G>A; p.V626M; 7:148811696-148811696	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Substitution - Missense
c.1117C>T; p.P373S; 7:148818000-148818000	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2058T>C; p.G686G; 7:148809362-148809362	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.507A>C; p.E169D; 7:148828858-148828858	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.507A>C; p.E169D; 7:148828858-148828858	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.697G>T; p.D233Y; 7:148827195-148827195	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1660T>C; p.C554R; 7:148814926-148814926	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.2188_2189insT; p.D730fs*8; 7:148809077-148809078	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.686C>T; p.S229L; 7:148827206-148827206	skin	malignant_melanoma	Substitution - Missense
c.958C>T; p.L320L; 7:148819637-148819637	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.683C>T; p.S228F; 7:148827209-148827209	skin	malignant_melanoma	Substitution - Missense
c.837C>G; p.H279Q; 7:148826524-148826524	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm	Substitution - Missense
c.1184delG; p.G395fs*29; 7:148817933-148817933	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1505+3G>A; p.?; 7:148816681-148816681	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1072C>T; p.R358C; 7:148818045-148818045	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.744C>T; p.T248T; 7:148826617-148826617	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.727A>G; p.K243E; 7:148827165-148827165	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.727A>G; p.K243E; 7:148827165-148827165	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.338G>A; p.W113*; 7:148832659-148832659	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.2111-1G>A; p.?; 7:148809156-148809156	kidney	other; neoplasm	Unknown
c.1487A>G; p.K496R; 7:148816702-148816702	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2083T>C; p.S695P; 7:148809337-148809337	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.730T>G; p.Y244D; 7:148826631-148826631	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.835C>T; p.H279Y; 7:148826526-148826526	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1680C>A; p.N560K; 7:148814130-148814130	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.552T>C; p.D184D; 7:148828813-148828813	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.727A>C; p.K243Q; 7:148827165-148827165	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_eosinophilic_leukaemia-hypereosinophilic_syndrome	Substitution - Missense
c.872A>C; p.K291T; 7:148826489-148826489	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.363G>C; p.M121I; 7:148832634-148832634	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2018A>G; p.N673S; 7:148810344-148810344	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1880C>A; p.A627E; 7:148811692-148811692	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2152_2153delAA; p.K718fs*12; 7:148809113-148809114	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Deletion - Frameshift
c.2152_2153delAA; p.K718fs*12; 7:148809113-148809114	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - Frameshift
c.763G>A; p.A255T; 7:148826598-148826598	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.1291C>T; p.P431S; 7:148817341-148817341	skin	malignant_melanoma	Substitution - Missense
c.1547-1G>C; p.?; 7:148815040-148815040	urinary_tract; bladder	carcinoma	Unknown
c.763G>A; p.A255T; 7:148826598-148826598	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.185A>G; p.Q62R; 7:148846531-148846531	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1978G>A; p.G660R; 7:148810384-148810384	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.185A>G; p.Q62R; 7:148846531-148846531	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.185A>G; p.Q62R; 7:148846531-148846531	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1633C>T; p.Q545*; 7:148814953-148814953	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.862C>T; p.R288*; 7:148826499-148826499	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.862C>T; p.R288*; 7:148826499-148826499	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.667A>T; p.I223F; 7:148827225-148827225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1966_1966delG; p.A656fs*19; 7:148810396-148810396	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.451A>C; p.K151Q; 7:148829761-148829761	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1741G>A; p.A581T; 7:148814069-148814069	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1038G>A; p.E346E; 7:148818079-148818079	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.305A>G; p.N102S; 7:148832692-148832692	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.435C>T; p.F145F; 7:148829777-148829777	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.305A>G; p.N102S; 7:148832692-148832692	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1608C>A; p.D536E; 7:148814978-148814978	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2045C>T; p.A682V; 7:148809375-148809375	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2177A>T; p.E726V; 7:148809089-148809089	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.933_933T>GGCATA; p.Y311fs*1; 7:148819662-148819662	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Complex - frameshift
c.849G>A; p.T283T; 7:148826512-148826512	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; retroperitoneum	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.574G>T; p.D192Y; 7:148828791-148828791	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Hodgkin_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1872T>G; p.S624S; 7:148811700-148811700	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.863G>A; p.R288Q; 7:148826498-148826498	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.863G>A; p.R288Q; 7:148826498-148826498	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.863G>A; p.R288Q; 7:148826498-148826498	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; B_cell_lymphoma_unspecified	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.863G>A; p.R288Q; 7:148826498-148826498	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.863G>A; p.R288Q; 7:148826498-148826498	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.863G>A; p.R288Q; 7:148826498-148826498	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.182A>G; p.K61R; 7:148846534-148846534	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2191T>G; p.Y731D; 7:148809075-148809075	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.446T>A; p.L149Q; 7:148829766-148829766	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1673-4G>C; p.?; 7:148814141-148814141	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Unknown
c.1667C>G; p.S556*; 7:148814919-148814919	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2191T>G; p.Y731D; 7:148809075-148809075	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1034C>A; p.A345D; 7:148818083-148818083	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1976delG; p.R659fs*16; 7:148810386-148810386	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - Frameshift
c.2080C>T; p.H694Y; 7:148809340-148809340	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.574G>A; p.D192N; 7:148828791-148828791	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.2080C>T; p.H694Y; 7:148809340-148809340	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.52C>T; p.R18C; 7:148847247-148847247	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1911G>A; p.V637V; 7:148811661-148811661	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.261T>C; p.S87S; 7:148832736-148832736	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2138T>C; p.I713T; 7:148809128-148809128	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.730T>C; p.Y244H; 7:148826631-148826631	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2232_2233insATC; p.I744_E745insI; 7:148807669-148807670	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - In frame
c.1768T>A; p.C590S; 7:148814042-148814042	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.949G>T; p.E317*; 7:148819646-148819646	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.2079T>A; p.N693K; 7:148809341-148809341	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.397T>C; p.Y133H; 7:148829815-148829815	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2079T>A; p.N693K; 7:148809341-148809341	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1947+39_1947+42delATAC; p.?; 7:148811583-148811586	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Unknown
c.2079T>A; p.N693K; 7:148809341-148809341	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.2079T>C; p.N693N; 7:148809341-148809341	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1381_1382insTA; p.R461fs*3; 7:148817250-148817251	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2079T>C; p.N693N; 7:148809341-148809341	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1698C>T; p.R566R; 7:148814112-148814112	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.437T>A; p.I146N; 7:148829775-148829775	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.949_950delGA; p.E317fs*29; 7:148819645-148819646	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.18G>A; p.K6K; 7:148847281-148847281	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.731A>G; p.Y244C; 7:148826630-148826630	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2048C>T; p.T683I; 7:148809372-148809372	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1408C>T; p.Q470*; 7:148817224-148817224	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.2029G>C; p.D677H; 7:148810333-148810333	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.597G>C; p.K199N; 7:148828768-148828768	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Missense
c.1060C>T; p.R354C; 7:148818057-148818057	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2004C>T; p.C668C; 7:148810358-148810358	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2030-1G>A; p.?; 7:148809391-148809391	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.191G>T; p.R64M; 7:148846525-148846525	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2009T>C; p.F670S; 7:148810353-148810353	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1135G>T; p.E379*; 7:148817982-148817982	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.2020T>G; p.L674V; 7:148810342-148810342	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2020T>G; p.L674V; 7:148810342-148810342	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2180_2182TGT>GG; p.L727fs*13; 7:148809084-148809086	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable	Complex - frameshift
c.2195+1G>A; p.?; 7:148809070-148809070	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Unknown
c.2195+1G>A; p.?; 7:148809070-148809070	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Unknown
c.484+13C>T; p.?; 7:148829715-148829715	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Unknown
c.2195+1G>A; p.?; 7:148809070-148809070	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.188_189insA; p.R64fs*18; 7:148846527-148846528	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Insertion - Frameshift
c.2068C>T; p.R690C; 7:148809352-148809352	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.73C>T; p.R25*; 7:148847226-148847226	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.2068C>T; p.R690C; 7:148809352-148809352	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2068C>T; p.R690C; 7:148809352-148809352	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1682G>C; p.R561P; 7:148814128-148814128	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2051G>A; p.R684H; 7:148809369-148809369	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.193A>G; p.I65V; 7:148846523-148846523	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2051G>A; p.R684H; 7:148809369-148809369	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2051G>A; p.R684H; 7:148809369-148809369	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1922A>T; p.E641V; 7:148811650-148811650	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1922A>T; p.E641V; 7:148811650-148811650	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.2051G>A; p.R684H; 7:148809369-148809369	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2051G>A; p.R684H; 7:148809369-148809369	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.65_66delAG; p.E22fs*14; 7:148847233-148847234	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.638G>A; p.R213H; 7:148827254-148827254	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.17A>T; p.K6M; 7:148847282-148847282	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1657C>T; p.Q553*; 7:148814929-148814929	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Nonsense
c.791T>G; p.I264R; 7:148826570-148826570	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.575A>G; p.D192G; 7:148828790-148828790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.890A>G; p.H297R; 7:148826471-148826471	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1657C>T; p.Q553*; 7:148814929-148814929	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.890A>G; p.H297R; 7:148826471-148826471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1605T>G; p.C535W; 7:148814981-148814981	skin	malignant_melanoma	Substitution - Missense
c.2230_2231insTGCAT; p.I744fs*>10; 7:148807671-148807672	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.434T>G; p.F145C; 7:148829778-148829778	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1992T>G; p.D664E; 7:148810370-148810370	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1355delA; p.Y452fs*11; 7:148817277-148817277	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.804T>C; p.N268N; 7:148826557-148826557	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.118-2delA; p.?; 7:148846600-148846600	skin; sole	malignant_melanoma; acral_lentiginous	Unknown
c.1907C>T; p.P636L; 7:148811665-148811665	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; AIDS_related_lymphoma	Substitution - Missense
c.1990G>A; p.D664N; 7:148810372-148810372	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1689G>T; p.P563P; 7:148814121-148814121	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2231_2232insTGCAT; p.E745fs*>9; 7:148807670-148807671	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.1040G>A; p.R347Q; 7:148818077-148818077	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1040G>A; p.R347Q; 7:148818077-148818077	skin	malignant_melanoma	Substitution - Missense
c.1969G>C; p.D657H; 7:148810393-148810393	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2007C>G; p.S669R; 7:148810355-148810355	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1672+2_1673+3insCCT; p.?; 7:148814911-148814912	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1672+5G>A; p.?; 7:148814909-148814909	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Unknown
c.2078A>T; p.N693I; 7:148809342-148809342	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2035G>A; p.V679M; 7:148809385-148809385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.2035G>A; p.V679M; 7:148809385-148809385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2035G>A; p.V679M; 7:148809385-148809385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.2035G>A; p.V679M; 7:148809385-148809385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis	Substitution - Missense
c.982C>T; p.Q328*; 7:148819613-148819613	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Nonsense
c.1672+5G>T; p.?; 7:148814909-148814909	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Unknown
c.1477C>T; p.P493S; 7:148816712-148816712	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1216_1219delAAAG; p.K406fs*17; 7:148817898-148817901	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Deletion - Frameshift
c.2033T>G; p.F678C; 7:148809387-148809387	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.949G>A; p.E317K; 7:148819646-148819646	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1477C>T; p.P493S; 7:148816712-148816712	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1708C>T; p.Q570*; 7:148814102-148814102	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.2084C>T; p.S695L; 7:148809336-148809336	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.812C>A; p.S271Y; 7:148826549-148826549	urinary_tract; bladder	carcinoma	Substitution - Missense
c.755T>C; p.L252P; 7:148826606-148826606	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2084C>T; p.S695L; 7:148809336-148809336	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1610G>A; p.S537N; 7:148814976-148814976	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2050C>T; p.R684C; 7:148809370-148809370	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.2050C>T; p.R684C; 7:148809370-148809370	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1613C>T; p.S538L; 7:148814973-148814973	skin	malignant_melanoma	Substitution - Missense
c.1119_1120insC; p.T374fs*3; 7:148817997-148817998	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.1613C>T; p.S538L; 7:148814973-148814973	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1636A>C; p.N546H; 7:148814950-148814950	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1992_1997delTAAATA; p.K665_Y666del; 7:148810365-148810370	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - In frame
c.1200_1203delAGAA; p.E401fs*22; 7:148817914-148817917	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Deletion - Frameshift
c.736G>T; p.E246*; 7:148826625-148826625	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2226_2227insAAAACC; p.V742_G743insKT; 7:148807675-148807676	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - In frame
c.2022G>A; p.L674L; 7:148810340-148810340	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1114_1115insC; p.T374fs*3; 7:148818002-148818003	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift

Mutation summary in protein domains

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

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]