Epithelial-Mesenchymal Transition gene database (dbEMT) Home
dbEMT
dbEMT 2.0
General information | Literature | Expression | lncRNA |Regulation | Mutation | Homolog | Interaction

Basic Information

Gene ID

3718

Name

JAK3

The somatic mutations from COSMIC database

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.2845G>A; p.D949N; 19:17831361-17831361

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2535C>T; p.G845G; 19:17832664-17832664

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1181C>T; p.S394L; 19:17840303-17840303

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2311C>T; p.R771*; 19:17834610-17834610

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.713A>G; p.Y238C; 19:17842464-17842464

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.420+28G>A; p.?; 19:17843352-17843352

breastcarcinoma; ductal_carcinomaUnknown

c.1532T>C; p.M511T; 19:17838300-17838300

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1532T>C; p.M511T; 19:17838300-17838300

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.208C>G; p.L70V; 19:17843877-17843877

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.1532T>C; p.M511T; 19:17838300-17838300

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1532T>C; p.M511T; 19:17838300-17838300

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1971G>A; p.R657R; 19:17835159-17835159

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1727T>A; p.M576K; 19:17837188-17837188

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1503G>T; p.Q501H; 19:17838329-17838329

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1503G>T; p.Q501H; 19:17838329-17838329

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.145T>G; p.L49V; 19:17844273-17844273

skinmalignant_melanomaSubstitution - Missense

c.2173C>T; p.P725S; 19:17834878-17834878

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.1334G>A; p.R445Q; 19:17839584-17839584

breastcarcinomaSubstitution - Missense

c.1402G>A; p.A468T; 19:17839516-17839516

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2437G>A; p.D813N; 19:17832843-17832843

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.41G>A; p.R14H; 19:17844377-17844377

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1304C>T; p.T435I; 19:17839614-17839614

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1229G>T; p.S410I; 19:17840255-17840255

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1643C>T; p.A548V; 19:17837990-17837990

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2283C>T; p.A761A; 19:17834638-17834638

skinmalignant_melanomaSubstitution - coding silent

c.1430C>T; p.P477L; 19:17839488-17839488

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.2440C>T; p.P814S; 19:17832840-17832840

livercarcinomaSubstitution - Missense

c.1159A>G; p.N387D; 19:17840325-17840325

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2200-2A>G; p.?; 19:17834723-17834723

breastcarcinomaUnknown

c.2935G>A; p.D979N; 19:17831271-17831271

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1391T>C; p.V464A; 19:17839527-17839527

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1746G>T; p.R582R; 19:17837169-17837169

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.3074A>G; p.D1025G; 19:17830525-17830525

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2836G>A; p.V946M; 19:17831370-17831370

prostatecarcinomaSubstitution - Missense

c.2550C>T; p.A850A; 19:17832649-17832649

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1536A>G; p.T512T; 19:17838296-17838296

ovaryother; neoplasmSubstitution - coding silent

c.2129G>T; p.G710V; 19:17834922-17834922

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3072C>T; p.C1024C; 19:17830527-17830527

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.3028G>T; p.V1010F; 19:17830571-17830571

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2451C>T; p.F817F; 19:17832829-17832829

skinmalignant_melanomaSubstitution - coding silent

c.2746C>T; p.R916W; 19:17831733-17831733

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1254+3C>T; p.?; 19:17840227-17840227

central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.3267C>T; p.S1089S; 19:17826851-17826851

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2240C>A; p.P747H; 19:17834681-17834681

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.37C>T; p.Q13*; 19:17844381-17844381

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2570T>C; p.L857P; 19:17832629-17832629

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaSubstitution - Missense

c.2570T>C; p.L857P; 19:17832629-17832629

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2570T>C; p.L857P; 19:17832629-17832629

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.37C>T; p.Q13*; 19:17844381-17844381

upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.58T>C; p.S20P; 19:17844360-17844360

skin; extremitymalignant_melanomaSubstitution - Missense

c.74C>T; p.A25V; 19:17844344-17844344

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.3268G>A; p.A1090T; 19:17826850-17826850

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2078C>T; p.P693L; 19:17834973-17834973

skin; subungualmalignant_melanoma; acral_lentiginousSubstitution - Missense

c.2059A>G; p.R687G; 19:17834992-17834992

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2078C>T; p.P693L; 19:17834973-17834973

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.3149T>C; p.L1050P; 19:17830166-17830166

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2978G>C; p.W993S; 19:17831228-17831228

urinary_tract; bladdercarcinomaSubstitution - Missense

c.2035T>G; p.L679V; 19:17835095-17835095

skinmalignant_melanomaSubstitution - Missense

c.1992G>A; p.P664P; 19:17835138-17835138

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1992G>A; p.P664P; 19:17835138-17835138

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1992G>A; p.P664P; 19:17835138-17835138

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.47G>A; p.C16Y; 19:17844371-17844371

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.260T>C; p.I87T; 19:17843825-17843825

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myeloproliferative_neoplasmSubstitution - Missense

c.1718C>T; p.A573V; 19:17837197-17837197

haematopoietic_and_lymphoid_tissue; mediastinumlymphoid_neoplasm; B_cell_lymphoma_unspecifiedSubstitution - Missense

c.1718C>T; p.A573V; 19:17837197-17837197

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1718C>T; p.A573V; 19:17837197-17837197

haematopoietic_and_lymphoid_tissue; mediastinumlymphoid_neoplasm; B_cell_lymphoma_unspecifiedSubstitution - Missense

c.1718C>T; p.A573V; 19:17837197-17837197

haematopoietic_and_lymphoid_tissue; mediastinumlymphoid_neoplasm; B_cell_lymphoma_unspecifiedSubstitution - Missense

c.1718C>T; p.A573V; 19:17837197-17837197

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1718C>T; p.A573V; 19:17837197-17837197

haematopoietic_and_lymphoid_tissue; mediastinumlymphoid_neoplasm; B_cell_lymphoma_unspecifiedSubstitution - Missense

c.1718C>T; p.A573V; 19:17837197-17837197

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1718C>T; p.A573V; 19:17837197-17837197

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1718C>T; p.A573V; 19:17837197-17837197

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.2142G>A; p.T714T; 19:17834909-17834909

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1718C>T; p.A573V; 19:17837197-17837197

haematopoietic_and_lymphoid_tissue; mediastinumlymphoid_neoplasm; B_cell_lymphoma_unspecifiedSubstitution - Missense

c.1718C>T; p.A573V; 19:17837197-17837197

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2283C>A; p.A761A; 19:17834638-17834638

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2178C>G; p.I726M; 19:17834873-17834873

upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.2178C>G; p.I726M; 19:17834873-17834873

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1576A>G; p.N526D; 19:17838057-17838057

urinary_tract; bladdercarcinomaSubstitution - Missense

c.962C>A; p.T321N; 19:17841662-17841662

livercarcinomaSubstitution - Missense

c.2597G>T; p.R866M; 19:17832602-17832602

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.962C>A; p.T321N; 19:17841662-17841662

livercarcinomaSubstitution - Missense

c.1258C>T; p.P420S; 19:17839660-17839660

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1254G>A; p.Q418Q; 19:17840230-17840230

livercarcinomaSubstitution - coding silent

c.1205G>A; p.R402H; 19:17840279-17840279

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3089C>T; p.P1030L; 19:17830510-17830510

pancreascarcinomaSubstitution - Missense

c.3089C>T; p.P1030L; 19:17830510-17830510

skinmalignant_melanomaSubstitution - Missense

c.3089C>T; p.P1030L; 19:17830510-17830510

pancreascarcinomaSubstitution - Missense

c.590G>A; p.S197N; 19:17842587-17842587

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1205G>A; p.R402H; 19:17840279-17840279

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1254G>A; p.Q418Q; 19:17840230-17840230

livercarcinomaSubstitution - coding silent

c.1211G>A; p.S404N; 19:17840273-17840273

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2734G>A; p.D912N; 19:17831745-17831745

skinmalignant_melanomaSubstitution - Missense

c.2126G>T; p.W709L; 19:17834925-17834925

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1307G>A; p.G436E; 19:17839611-17839611

skinmalignant_melanomaSubstitution - Missense

c.3105G>A; p.L1035L; 19:17830210-17830210

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - coding silent

c.3279C>A; p.P1093P; 19:17826839-17826839

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2580C>T; p.S860S; 19:17832619-17832619

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2015C>A; p.P672H; 19:17835115-17835115

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.452C>G; p.P151R; 19:17843141-17843141

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myeloproliferative_neoplasmSubstitution - Missense

c.1306G>T; p.G436*; 19:17839612-17839612

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2580C>T; p.S860S; 19:17832619-17832619

prostatecarcinomaSubstitution - coding silent

c.247C>T; p.P83S; 19:17843838-17843838

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.515G>A; p.R172Q; 19:17843078-17843078

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; adult_T_cell_lymphoma-leukaemiaSubstitution - Missense

c.1405G>C; p.V469L; 19:17839513-17839513

oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.515G>A; p.R172Q; 19:17843078-17843078

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; adult_T_cell_lymphoma-leukaemiaSubstitution - Missense

c.1970G>A; p.R657Q; 19:17835160-17835160

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1970G>A; p.R657Q; 19:17835160-17835160

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1970G>A; p.R657Q; 19:17835160-17835160

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1970G>A; p.R657Q; 19:17835160-17835160

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaSubstitution - Missense

c.1970G>A; p.R657Q; 19:17835160-17835160

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1970G>A; p.R657Q; 19:17835160-17835160

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaSubstitution - Missense

c.1970G>A; p.R657Q; 19:17835160-17835160

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1970G>A; p.R657Q; 19:17835160-17835160

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.751G>A; p.A251T; 19:17842426-17842426

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.555G>A; p.L185L; 19:17843038-17843038

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1970G>A; p.R657Q; 19:17835160-17835160

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1970G>A; p.R657Q; 19:17835160-17835160

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1970G>A; p.R657Q; 19:17835160-17835160

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; T_cell_prolymphocytic_leukaemiaSubstitution - Missense

c.1970G>A; p.R657Q; 19:17835160-17835160

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaSubstitution - Missense

c.1970G>A; p.R657Q; 19:17835160-17835160

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaSubstitution - Missense

c.751G>A; p.A251T; 19:17842426-17842426

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1970G>A; p.R657Q; 19:17835160-17835160

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1970G>A; p.R657Q; 19:17835160-17835160

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaSubstitution - Missense

c.1970G>A; p.R657Q; 19:17835160-17835160

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; T_cell_prolymphocytic_leukaemiaSubstitution - Missense

c.1970G>A; p.R657Q; 19:17835160-17835160

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1970G>A; p.R657Q; 19:17835160-17835160

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1970G>A; p.R657Q; 19:17835160-17835160

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaSubstitution - Missense

c.1970G>A; p.R657Q; 19:17835160-17835160

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1970G>A; p.R657Q; 19:17835160-17835160

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1970G>A; p.R657Q; 19:17835160-17835160

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaSubstitution - Missense

c.1970G>A; p.R657Q; 19:17835160-17835160

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaSubstitution - Missense

c.1726A>G; p.M576V; 19:17837189-17837189

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1373G>T; p.W458L; 19:17839545-17839545

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3257C>A; p.P1086Q; 19:17826861-17826861

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2365T>C; p.S789P; 19:17832915-17832915

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1619G>T; p.R540L; 19:17838014-17838014

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1902C>T; p.A634A; 19:17835936-17835936

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.944A>G; p.H315R; 19:17841680-17841680

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.119G>A; p.R40H; 19:17844299-17844299

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.944A>G; p.H315R; 19:17841680-17841680

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.119G>A; p.R40H; 19:17844299-17844299

stomachadenocarcinomaSubstitution - Missense

c.3327C>G; p.A1109A; 19:17826791-17826791

upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2816A>C; p.Y939S; 19:17831390-17831390

thyroidother; neoplasmSubstitution - Missense

c.1798C>T; p.Q600*; 19:17836040-17836040

ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.308+5G>C; p.?; 19:17843772-17843772

livercarcinomaUnknown

c.3254G>A; p.R1085Q; 19:17826864-17826864

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.3353A>G; p.H1118R; 19:17826765-17826765

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1869G>A; p.W623*; 19:17835969-17835969

skin; mucosalmalignant_melanomaSubstitution - Nonsense

c.1150T>A; p.F384I; 19:17840334-17840334

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2143G>A; p.V715I; 19:17834908-17834908

breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1669G>A; p.V557I; 19:17837964-17837964

skinmalignant_melanomaSubstitution - Missense

c.3046G>A; p.V1016I; 19:17830553-17830553

breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.189_190CC>TT; p.(=); 19:17843895-17843896

skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1533G>C; p.M511I; 19:17838299-17838299

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; T_cell_prolymphocytic_leukaemiaSubstitution - Missense

c.1533G>C; p.M511I; 19:17838299-17838299

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; T_cell_prolymphocytic_leukaemiaSubstitution - Missense

c.1619G>A; p.R540H; 19:17838014-17838014

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2484G>T; p.L828L; 19:17832796-17832796

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2831G>A; p.R944H; 19:17831375-17831375

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.21G>T; p.E7D; 19:17844397-17844397

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2925G>A; p.P975P; 19:17831281-17831281

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2242A>C; p.K748Q; 19:17834679-17834679

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1715C>T; p.A572V; 19:17837200-17837200

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.467T>C; p.L156P; 19:17843126-17843126

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; adult_T_cell_lymphoma-leukaemiaSubstitution - Missense

c.1715C>T; p.A572V; 19:17837200-17837200

haematopoietic_and_lymphoid_tissue; skinlymphoid_neoplasm; mycosis_fungoides-Sezary_syndromeSubstitution - Missense

c.1715C>T; p.A572V; 19:17837200-17837200

haematopoietic_and_lymphoid_tissue; skinlymphoid_neoplasm; mycosis_fungoides-Sezary_syndromeSubstitution - Missense

c.1520A>T; p.Q507L; 19:17838312-17838312

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2971A>G; p.I991V; 19:17831235-17831235

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1715C>T; p.A572V; 19:17837200-17837200

haematopoietic_and_lymphoid_tissue; skinlymphoid_neoplasm; mycosis_fungoides-Sezary_syndromeSubstitution - Missense

c.1715C>T; p.A572V; 19:17837200-17837200

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1715C>T; p.A572V; 19:17837200-17837200

haematopoietic_and_lymphoid_tissue; skinlymphoid_neoplasm; mycosis_fungoides-Sezary_syndromeSubstitution - Missense

c.1187C>A; p.P396H; 19:17840297-17840297

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1975G>A; p.G659R; 19:17835155-17835155

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.943C>T; p.H315Y; 19:17841681-17841681

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2316C>G; p.A772A; 19:17834605-17834605

breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - coding silent

c.2157T>C; p.F719F; 19:17834894-17834894

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.2430C>T; p.A810A; 19:17832850-17832850

skinmalignant_melanomaSubstitution - coding silent

c.1813C>A; p.L605M; 19:17836025-17836025

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3154G>A; p.E1052K; 19:17830161-17830161

skinmalignant_melanomaSubstitution - Missense

c.1308A>T; p.G436G; 19:17839610-17839610

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.366G>A; p.K122K; 19:17843434-17843434

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2659C>T; p.R887C; 19:17832540-17832540

skinmalignant_melanomaSubstitution - Missense

c.3096C>T; p.A1032A; 19:17830503-17830503

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.109C>G; p.P37A; 19:17844309-17844309

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2659C>T; p.R887C; 19:17832540-17832540

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.115delC; p.Q39fs*108; 19:17844303-17844303

large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.2659C>T; p.R887C; 19:17832540-17832540

prostatecarcinomaSubstitution - Missense

c.546A>G; p.G182G; 19:17843047-17843047

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2844C>T; p.R948R; 19:17831362-17831362

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.2491-7C>T; p.?; 19:17832715-17832715

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaUnknown

c.1717G>A; p.A573T; 19:17837198-17837198

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1533G>T; p.M511I; 19:17838299-17838299

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1533G>T; p.M511I; 19:17838299-17838299

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.253_254insG; p.S85fs*46; 19:17843831-17843832

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaInsertion - Frameshift

c.1533G>T; p.M511I; 19:17838299-17838299

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; T_cell_prolymphocytic_leukaemiaSubstitution - Missense

c.1533G>T; p.M511I; 19:17838299-17838299

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1533G>T; p.M511I; 19:17838299-17838299

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; T_cell_prolymphocytic_leukaemiaSubstitution - Missense

c.3272T>G; p.L1091R; 19:17826846-17826846

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1227C>A; p.D409E; 19:17840257-17840257

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2144T>C; p.V715A; 19:17834907-17834907

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2144T>C; p.V715A; 19:17834907-17834907

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.131_132CC>TT; p.S44F; 19:17844286-17844287

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1580T>C; p.L527P; 19:17838053-17838053

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1580T>C; p.L527P; 19:17838053-17838053

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1580T>C; p.L527P; 19:17838053-17838053

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1580T>C; p.L527P; 19:17838053-17838053

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.976C>G; p.Q326E; 19:17841648-17841648

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1580T>C; p.L527P; 19:17838053-17838053

stomachadenocarcinomaSubstitution - Missense

c.471G>C; p.K157N; 19:17843122-17843122

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.420+5G>A; p.?; 19:17843375-17843375

stomachcarcinoma; diffuse_adenocarcinomaUnknown

c.2559C>T; p.A853A; 19:17832640-17832640

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - coding silent

c.2164G>A; p.V722I; 19:17834887-17834887

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2164G>A; p.V722I; 19:17834887-17834887

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1613G>A; p.G538D; 19:17838020-17838020

breastcarcinomaSubstitution - Missense

c.2879A>C; p.E960A; 19:17831327-17831327

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.2653A>G; p.K885E; 19:17832546-17832546

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.2536G>A; p.D846N; 19:17832663-17832663

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2536G>A; p.D846N; 19:17832663-17832663

skinmalignant_melanomaSubstitution - Missense

c.1554T>C; p.A518A; 19:17838278-17838278

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2709G>A; p.E903E; 19:17831770-17831770

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2116G>T; p.A706S; 19:17834935-17834935

central_nervous_system; braingliomaSubstitution - Missense

c.2217G>A; p.E739E; 19:17834704-17834704

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.440G>A; p.S147N; 19:17843153-17843153

ovarycarcinoma; small_cell_carcinomaSubstitution - Missense

c.3241A>T; p.S1081C; 19:17826877-17826877

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1485C>T; p.P495P; 19:17838347-17838347

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1890G>T; p.Q630H; 19:17835948-17835948

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.322A>G; p.N108D; 19:17843478-17843478

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.2213A>G; p.Y738C; 19:17834708-17834708

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3306C>T; p.S1102S; 19:17826812-17826812

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2224C>T; p.Q742*; 19:17834697-17834697

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1966G>A; p.A656T; 19:17835164-17835164

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.2925G>C; p.P975P; 19:17831281-17831281

kidneyother; neoplasmSubstitution - coding silent

c.394C>A; p.P132T; 19:17843406-17843406

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1575G>C; p.E525D; 19:17838058-17838058

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2504G>A; p.S835N; 19:17832695-17832695

kidneyother; neoplasmSubstitution - Missense

c.24G>A; p.T8T; 19:17844394-17844394

lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.3216G>A; p.E1072E; 19:17826902-17826902

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2222G>A; p.R741Q; 19:17834699-17834699

breastcarcinomaSubstitution - Missense

c.3326C>T; p.A1109V; 19:17826792-17826792

skinmalignant_melanomaSubstitution - Missense

c.2021T>C; p.V674A; 19:17835109-17835109

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; T_cell_prolymphocytic_leukaemiaSubstitution - Missense

c.2021T>C; p.V674A; 19:17835109-17835109

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.514C>T; p.R172W; 19:17843079-17843079

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.514C>T; p.R172W; 19:17843079-17843079

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2678C>T; p.P893L; 19:17832521-17832521

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2778C>T; p.L926L; 19:17831701-17831701

skinmalignant_melanomaSubstitution - coding silent

c.2678C>T; p.P893L; 19:17832521-17832521

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1991C>T; p.P664L; 19:17835139-17835139

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.881A>G; p.D294G; 19:17841743-17841743

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.881A>G; p.D294G; 19:17841743-17841743

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1533G>A; p.M511I; 19:17838299-17838299

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1533G>A; p.M511I; 19:17838299-17838299

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1533G>A; p.M511I; 19:17838299-17838299

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1533G>A; p.M511I; 19:17838299-17838299

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1533G>A; p.M511I; 19:17838299-17838299

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1533G>A; p.M511I; 19:17838299-17838299

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1533G>A; p.M511I; 19:17838299-17838299

haematopoietic_and_lymphoid_tissue; skinlymphoid_neoplasm; mycosis_fungoides-Sezary_syndromeSubstitution - Missense

c.1533G>A; p.M511I; 19:17838299-17838299

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; T_cell_prolymphocytic_leukaemiaSubstitution - Missense

c.1533G>A; p.M511I; 19:17838299-17838299

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1533G>A; p.M511I; 19:17838299-17838299

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1533G>A; p.M511I; 19:17838299-17838299

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; T_cell_prolymphocytic_leukaemiaSubstitution - Missense

c.1533G>A; p.M511I; 19:17838299-17838299

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1533G>A; p.M511I; 19:17838299-17838299

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; T_cell_prolymphocytic_leukaemiaSubstitution - Missense

c.1533G>A; p.M511I; 19:17838299-17838299

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; T_cell_prolymphocytic_leukaemiaSubstitution - Missense

c.1533G>A; p.M511I; 19:17838299-17838299

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1533G>A; p.M511I; 19:17838299-17838299

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.28C>G; p.L10V; 19:17844390-17844390

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1699G>A; p.E567K; 19:17837934-17837934

skinmalignant_melanomaSubstitution - Missense

c.1834C>T; p.L612L; 19:17836004-17836004

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2863A>T; p.I955F; 19:17831343-17831343

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1105C>A; p.L369M; 19:17841426-17841426

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.1158C>T; p.I386I; 19:17840326-17840326

breastcarcinomaSubstitution - coding silent

c.1974G>A; p.E658E; 19:17835156-17835156

breastcarcinomaSubstitution - coding silent

c.380C>A; p.A127D; 19:17843420-17843420

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.452C>T; p.P151L; 19:17843141-17843141

skinmalignant_melanomaSubstitution - Missense

c.2581G>T; p.G861W; 19:17832618-17832618

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2063T>C; p.I688T; 19:17834988-17834988

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2096C>T; p.A699V; 19:17834955-17834955

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.2063T>C; p.I688T; 19:17834988-17834988

stomachadenocarcinomaSubstitution - Missense

c.267C>A; p.S89S; 19:17843818-17843818

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.3230G>T; p.C1077F; 19:17826888-17826888

breastcarcinomaSubstitution - Missense

c.1208G>A; p.R403H; 19:17840276-17840276

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1208G>A; p.R403H; 19:17840276-17840276

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2259C>T; p.A753A; 19:17834662-17834662

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1208G>A; p.R403H; 19:17840276-17840276

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.381T>A; p.A127A; 19:17843419-17843419

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1520_1521AG>CA; p.Q507P; 19:17838311-17838312

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; T_cell_prolymphocytic_leukaemiaSubstitution - Missense

c.2020G>T; p.V674F; 19:17835110-17835110

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; T_cell_prolymphocytic_leukaemiaSubstitution - Missense

c.1652_1655delCAGA; p.T551fs*4; 19:17837978-17837981

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeDeletion - Frameshift

c.1777G>A; p.A593T; 19:17837138-17837138

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1458C>T; p.I486I; 19:17838374-17838374

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1458C>T; p.I486I; 19:17838374-17838374

skinmalignant_melanomaSubstitution - coding silent

c.2624T>C; p.L875P; 19:17832575-17832575

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.2200-1G>T; p.?; 19:17834722-17834722

endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1206C>T; p.R402R; 19:17840278-17840278

skinmalignant_melanomaSubstitution - coding silent

c.1386G>A; p.L462L; 19:17839532-17839532

breastcarcinomaSubstitution - coding silent

c.2842C>T; p.R948C; 19:17831364-17831364

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2528C>A; p.P843Q; 19:17832671-17832671

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.2842C>T; p.R948C; 19:17831364-17831364

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2090G>A; p.R697Q; 19:17834961-17834961

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1739C>T; p.S580L; 19:17837176-17837176

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1764C>T; p.H588H; 19:17837151-17837151

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3317A>G; p.E1106G; 19:17826801-17826801

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.2959G>T; p.G987C; 19:17831247-17831247

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1477A>C; p.S493R; 19:17838355-17838355

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.329_335delTTGGGCT; p.F110fs*35; 19:17843465-17843471

breastcarcinomaDeletion - Frameshift

c.1529A>G; p.Q510R; 19:17838303-17838303

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.139G>T; p.D47Y; 19:17844279-17844279

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2962C>T; p.Q988*; 19:17831244-17831244

oesophagus; upper_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1284C>A; p.C428*; 19:17839634-17839634

upper_aerodigestive_tract; mouthcarcinomaSubstitution - Nonsense

c.1284C>A; p.C428*; 19:17839634-17839634

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2962C>T; p.Q988*; 19:17831244-17831244

livercarcinomaSubstitution - Nonsense

c.971A>T; p.D324V; 19:17841653-17841653

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1477A>T; p.S493C; 19:17838355-17838355

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2555_2556insA; p.A853fs*29; 19:17832643-17832644

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaInsertion - Frameshift

c.968C>G; p.T323R; 19:17841656-17841656

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2773C>A; p.R925S; 19:17831706-17831706

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1520A>G; p.Q507R; 19:17838312-17838312

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1581G>T; p.L527L; 19:17838052-17838052

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1900G>A; p.A634T; 19:17835938-17835938

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3168G>A; p.E1056E; 19:17830147-17830147

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3371C>T; p.S1124L; 19:17826747-17826747

breastcarcinomaSubstitution - Missense

c.1301C>G; p.P434R; 19:17839617-17839617

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myeloproliferative_neoplasmSubstitution - Missense

c.1752C>T; p.L584L; 19:17837163-17837163

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1306G>A; p.G436R; 19:17839612-17839612

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3036C>A; p.S1012R; 19:17830563-17830563

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1287C>T; p.L429L; 19:17839631-17839631

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2874_2875insTGG; p.E958_S959insW; 19:17831331-17831332

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaInsertion - In frame

c.2570T>A; p.L857Q; 19:17832629-17832629

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1646G>A; p.R549Q; 19:17837987-17837987

livercarcinomaSubstitution - Missense

c.3023C>G; p.S1008*; 19:17830576-17830576

breastcarcinoma; HER-positive_carcinomaSubstitution - Nonsense

c.2622C>T; p.I874I; 19:17832577-17832577

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1497G>T; p.L499F; 19:17838335-17838335

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2163C>T; p.G721G; 19:17834888-17834888

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3023C>G; p.S1008*; 19:17830576-17830576

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.3301G>A; p.G1101R; 19:17826817-17826817

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2032G>T; p.V678L; 19:17835098-17835098

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; T_cell_prolymphocytic_leukaemiaSubstitution - Missense

c.3301G>A; p.G1101R; 19:17826817-17826817

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.548A>G; p.E183G; 19:17843045-17843045

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.548A>G; p.E183G; 19:17843045-17843045

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; adult_T_cell_lymphoma-leukaemiaSubstitution - Missense

c.548A>G; p.E183G; 19:17843045-17843045

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.548A>G; p.E183G; 19:17843045-17843045

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.548A>G; p.E183G; 19:17843045-17843045

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.548A>G; p.E183G; 19:17843045-17843045

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1467G>C; p.Q489H; 19:17838365-17838365

breastcarcinomaSubstitution - Missense

c.2159G>A; p.S720N; 19:17834892-17834892

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1291C>T; p.R431W; 19:17839627-17839627

pancreascarcinomaSubstitution - Missense

c.545G>A; p.G182E; 19:17843048-17843048

urinary_tract; bladdercarcinomaSubstitution - Missense

c.542C>T; p.P181L; 19:17843051-17843051

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1442-2A>C; p.?; 19:17838392-17838392

skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.2872G>A; p.E958K; 19:17831334-17831334

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaSubstitution - Missense

c.184G>A; p.G62S; 19:17844234-17844234

prostatecarcinomaSubstitution - Missense

c.2404C>T; p.L802L; 19:17832876-17832876

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1686C>T; p.H562H; 19:17837947-17837947

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - coding silent

c.815G>A; p.R272H; 19:17842362-17842362

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.815G>A; p.R272H; 19:17842362-17842362

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.2825C>T; p.S942F; 19:17831381-17831381

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1580T>G; p.L527R; 19:17838053-17838053

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1921A>G; p.K641E; 19:17835209-17835209

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.2551C>A; p.L851M; 19:17832648-17832648

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2046G>T; p.E682D; 19:17835084-17835084

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1320G>A; p.L440L; 19:17839598-17839598

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1028C>T; p.A343V; 19:17841503-17841503

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1714G>A; p.A572T; 19:17837201-17837201

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.2906G>T; p.G969V; 19:17831300-17831300

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.115_116insC; p.Q39fs*13; 19:17844302-17844303

large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.1714G>A; p.A572T; 19:17837201-17837201

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.251delC; p.P84fs*63; 19:17843834-17843834

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.3268G>T; p.A1090S; 19:17826850-17826850

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.118C>T; p.R40C; 19:17844300-17844300

stomachcarcinoma; adenocarcinomaSubstitution - Missense


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