| 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; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2535C>T; p.G845G; 19:17832664-17832664 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1181C>T; p.S394L; 19:17840303-17840303 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2311C>T; p.R771*; 19:17834610-17834610 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.713A>G; p.Y238C; 19:17842464-17842464 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.420+28G>A; p.?; 19:17843352-17843352 |
breast | carcinoma; ductal_carcinoma | Unknown |
c.1532T>C; p.M511T; 19:17838300-17838300 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1532T>C; p.M511T; 19:17838300-17838300 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.208C>G; p.L70V; 19:17843877-17843877 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1532T>C; p.M511T; 19:17838300-17838300 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1532T>C; p.M511T; 19:17838300-17838300 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1971G>A; p.R657R; 19:17835159-17835159 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1727T>A; p.M576K; 19:17837188-17837188 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1503G>T; p.Q501H; 19:17838329-17838329 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1503G>T; p.Q501H; 19:17838329-17838329 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.145T>G; p.L49V; 19:17844273-17844273 |
skin | malignant_melanoma | Substitution - Missense |
c.2173C>T; p.P725S; 19:17834878-17834878 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1334G>A; p.R445Q; 19:17839584-17839584 |
breast | carcinoma | Substitution - Missense |
c.1402G>A; p.A468T; 19:17839516-17839516 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2437G>A; p.D813N; 19:17832843-17832843 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.41G>A; p.R14H; 19:17844377-17844377 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1304C>T; p.T435I; 19:17839614-17839614 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1229G>T; p.S410I; 19:17840255-17840255 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1643C>T; p.A548V; 19:17837990-17837990 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2283C>T; p.A761A; 19:17834638-17834638 |
skin | malignant_melanoma | Substitution - coding silent |
c.1430C>T; p.P477L; 19:17839488-17839488 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.2440C>T; p.P814S; 19:17832840-17832840 |
liver | carcinoma | Substitution - Missense |
c.1159A>G; p.N387D; 19:17840325-17840325 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2200-2A>G; p.?; 19:17834723-17834723 |
breast | carcinoma | Unknown |
c.2935G>A; p.D979N; 19:17831271-17831271 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1391T>C; p.V464A; 19:17839527-17839527 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1746G>T; p.R582R; 19:17837169-17837169 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3074A>G; p.D1025G; 19:17830525-17830525 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2836G>A; p.V946M; 19:17831370-17831370 |
prostate | carcinoma | Substitution - Missense |
c.2550C>T; p.A850A; 19:17832649-17832649 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1536A>G; p.T512T; 19:17838296-17838296 |
ovary | other; neoplasm | Substitution - coding silent |
c.2129G>T; p.G710V; 19:17834922-17834922 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3072C>T; p.C1024C; 19:17830527-17830527 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3028G>T; p.V1010F; 19:17830571-17830571 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2451C>T; p.F817F; 19:17832829-17832829 |
skin | malignant_melanoma | Substitution - coding silent |
c.2746C>T; p.R916W; 19:17831733-17831733 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1254+3C>T; p.?; 19:17840227-17840227 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.3267C>T; p.S1089S; 19:17826851-17826851 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2240C>A; p.P747H; 19:17834681-17834681 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.37C>T; p.Q13*; 19:17844381-17844381 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2570T>C; p.L857P; 19:17832629-17832629 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia | Substitution - Missense |
c.2570T>C; p.L857P; 19:17832629-17832629 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2570T>C; p.L857P; 19:17832629-17832629 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.37C>T; p.Q13*; 19:17844381-17844381 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.58T>C; p.S20P; 19:17844360-17844360 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.74C>T; p.A25V; 19:17844344-17844344 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3268G>A; p.A1090T; 19:17826850-17826850 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2078C>T; p.P693L; 19:17834973-17834973 |
skin; subungual | malignant_melanoma; acral_lentiginous | Substitution - Missense |
c.2059A>G; p.R687G; 19:17834992-17834992 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2078C>T; p.P693L; 19:17834973-17834973 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.3149T>C; p.L1050P; 19:17830166-17830166 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2978G>C; p.W993S; 19:17831228-17831228 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2035T>G; p.L679V; 19:17835095-17835095 |
skin | malignant_melanoma | Substitution - Missense |
c.1992G>A; p.P664P; 19:17835138-17835138 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1992G>A; p.P664P; 19:17835138-17835138 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1992G>A; p.P664P; 19:17835138-17835138 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.47G>A; p.C16Y; 19:17844371-17844371 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.260T>C; p.I87T; 19:17843825-17843825 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1718C>T; p.A573V; 19:17837197-17837197 |
haematopoietic_and_lymphoid_tissue; mediastinum | lymphoid_neoplasm; B_cell_lymphoma_unspecified | Substitution - Missense |
c.1718C>T; p.A573V; 19:17837197-17837197 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1718C>T; p.A573V; 19:17837197-17837197 |
haematopoietic_and_lymphoid_tissue; mediastinum | lymphoid_neoplasm; B_cell_lymphoma_unspecified | Substitution - Missense |
c.1718C>T; p.A573V; 19:17837197-17837197 |
haematopoietic_and_lymphoid_tissue; mediastinum | lymphoid_neoplasm; B_cell_lymphoma_unspecified | Substitution - Missense |
c.1718C>T; p.A573V; 19:17837197-17837197 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1718C>T; p.A573V; 19:17837197-17837197 |
haematopoietic_and_lymphoid_tissue; mediastinum | lymphoid_neoplasm; B_cell_lymphoma_unspecified | Substitution - Missense |
c.1718C>T; p.A573V; 19:17837197-17837197 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1718C>T; p.A573V; 19:17837197-17837197 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1718C>T; p.A573V; 19:17837197-17837197 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2142G>A; p.T714T; 19:17834909-17834909 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1718C>T; p.A573V; 19:17837197-17837197 |
haematopoietic_and_lymphoid_tissue; mediastinum | lymphoid_neoplasm; B_cell_lymphoma_unspecified | Substitution - Missense |
c.1718C>T; p.A573V; 19:17837197-17837197 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2283C>A; p.A761A; 19:17834638-17834638 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2178C>G; p.I726M; 19:17834873-17834873 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.2178C>G; p.I726M; 19:17834873-17834873 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1576A>G; p.N526D; 19:17838057-17838057 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.962C>A; p.T321N; 19:17841662-17841662 |
liver | carcinoma | Substitution - Missense |
c.2597G>T; p.R866M; 19:17832602-17832602 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.962C>A; p.T321N; 19:17841662-17841662 |
liver | carcinoma | Substitution - Missense |
c.1258C>T; p.P420S; 19:17839660-17839660 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1254G>A; p.Q418Q; 19:17840230-17840230 |
liver | carcinoma | Substitution - coding silent |
c.1205G>A; p.R402H; 19:17840279-17840279 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3089C>T; p.P1030L; 19:17830510-17830510 |
pancreas | carcinoma | Substitution - Missense |
c.3089C>T; p.P1030L; 19:17830510-17830510 |
skin | malignant_melanoma | Substitution - Missense |
c.3089C>T; p.P1030L; 19:17830510-17830510 |
pancreas | carcinoma | Substitution - Missense |
c.590G>A; p.S197N; 19:17842587-17842587 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1205G>A; p.R402H; 19:17840279-17840279 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1254G>A; p.Q418Q; 19:17840230-17840230 |
liver | carcinoma | Substitution - coding silent |
c.1211G>A; p.S404N; 19:17840273-17840273 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2734G>A; p.D912N; 19:17831745-17831745 |
skin | malignant_melanoma | Substitution - Missense |
c.2126G>T; p.W709L; 19:17834925-17834925 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1307G>A; p.G436E; 19:17839611-17839611 |
skin | malignant_melanoma | Substitution - Missense |
c.3105G>A; p.L1035L; 19:17830210-17830210 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - coding silent |
c.3279C>A; p.P1093P; 19:17826839-17826839 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2580C>T; p.S860S; 19:17832619-17832619 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2015C>A; p.P672H; 19:17835115-17835115 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.452C>G; p.P151R; 19:17843141-17843141 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1306G>T; p.G436*; 19:17839612-17839612 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2580C>T; p.S860S; 19:17832619-17832619 |
prostate | carcinoma | Substitution - coding silent |
c.247C>T; p.P83S; 19:17843838-17843838 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.515G>A; p.R172Q; 19:17843078-17843078 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia | Substitution - Missense |
c.1405G>C; p.V469L; 19:17839513-17839513 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.515G>A; p.R172Q; 19:17843078-17843078 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia | Substitution - Missense |
c.1970G>A; p.R657Q; 19:17835160-17835160 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1970G>A; p.R657Q; 19:17835160-17835160 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1970G>A; p.R657Q; 19:17835160-17835160 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1970G>A; p.R657Q; 19:17835160-17835160 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia | Substitution - Missense |
c.1970G>A; p.R657Q; 19:17835160-17835160 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1970G>A; p.R657Q; 19:17835160-17835160 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia | Substitution - Missense |
c.1970G>A; p.R657Q; 19:17835160-17835160 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1970G>A; p.R657Q; 19:17835160-17835160 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.751G>A; p.A251T; 19:17842426-17842426 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.555G>A; p.L185L; 19:17843038-17843038 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1970G>A; p.R657Q; 19:17835160-17835160 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1970G>A; p.R657Q; 19:17835160-17835160 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1970G>A; p.R657Q; 19:17835160-17835160 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia | Substitution - Missense |
c.1970G>A; p.R657Q; 19:17835160-17835160 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia | Substitution - Missense |
c.1970G>A; p.R657Q; 19:17835160-17835160 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia | Substitution - Missense |
c.751G>A; p.A251T; 19:17842426-17842426 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1970G>A; p.R657Q; 19:17835160-17835160 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1970G>A; p.R657Q; 19:17835160-17835160 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia | Substitution - Missense |
c.1970G>A; p.R657Q; 19:17835160-17835160 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia | Substitution - Missense |
c.1970G>A; p.R657Q; 19:17835160-17835160 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1970G>A; p.R657Q; 19:17835160-17835160 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1970G>A; p.R657Q; 19:17835160-17835160 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia | Substitution - Missense |
c.1970G>A; p.R657Q; 19:17835160-17835160 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1970G>A; p.R657Q; 19:17835160-17835160 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1970G>A; p.R657Q; 19:17835160-17835160 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia | Substitution - Missense |
c.1970G>A; p.R657Q; 19:17835160-17835160 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia | Substitution - Missense |
c.1726A>G; p.M576V; 19:17837189-17837189 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1373G>T; p.W458L; 19:17839545-17839545 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3257C>A; p.P1086Q; 19:17826861-17826861 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2365T>C; p.S789P; 19:17832915-17832915 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1619G>T; p.R540L; 19:17838014-17838014 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1902C>T; p.A634A; 19:17835936-17835936 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.944A>G; p.H315R; 19:17841680-17841680 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.119G>A; p.R40H; 19:17844299-17844299 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.944A>G; p.H315R; 19:17841680-17841680 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.119G>A; p.R40H; 19:17844299-17844299 |
stomach | adenocarcinoma | Substitution - Missense |
c.3327C>G; p.A1109A; 19:17826791-17826791 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2816A>C; p.Y939S; 19:17831390-17831390 |
thyroid | other; neoplasm | Substitution - Missense |
c.1798C>T; p.Q600*; 19:17836040-17836040 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.308+5G>C; p.?; 19:17843772-17843772 |
liver | carcinoma | Unknown |
c.3254G>A; p.R1085Q; 19:17826864-17826864 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3353A>G; p.H1118R; 19:17826765-17826765 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1869G>A; p.W623*; 19:17835969-17835969 |
skin; mucosal | malignant_melanoma | Substitution - Nonsense |
c.1150T>A; p.F384I; 19:17840334-17840334 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2143G>A; p.V715I; 19:17834908-17834908 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1669G>A; p.V557I; 19:17837964-17837964 |
skin | malignant_melanoma | Substitution - Missense |
c.3046G>A; p.V1016I; 19:17830553-17830553 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.189_190CC>TT; p.(=); 19:17843895-17843896 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.1533G>C; p.M511I; 19:17838299-17838299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia | Substitution - Missense |
c.1533G>C; p.M511I; 19:17838299-17838299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia | Substitution - Missense |
c.1619G>A; p.R540H; 19:17838014-17838014 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2484G>T; p.L828L; 19:17832796-17832796 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2831G>A; p.R944H; 19:17831375-17831375 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.21G>T; p.E7D; 19:17844397-17844397 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2925G>A; p.P975P; 19:17831281-17831281 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2242A>C; p.K748Q; 19:17834679-17834679 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1715C>T; p.A572V; 19:17837200-17837200 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.467T>C; p.L156P; 19:17843126-17843126 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia | Substitution - Missense |
c.1715C>T; p.A572V; 19:17837200-17837200 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Substitution - Missense |
c.1715C>T; p.A572V; 19:17837200-17837200 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Substitution - Missense |
c.1520A>T; p.Q507L; 19:17838312-17838312 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2971A>G; p.I991V; 19:17831235-17831235 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1715C>T; p.A572V; 19:17837200-17837200 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Substitution - Missense |
c.1715C>T; p.A572V; 19:17837200-17837200 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1715C>T; p.A572V; 19:17837200-17837200 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Substitution - Missense |
c.1187C>A; p.P396H; 19:17840297-17840297 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1975G>A; p.G659R; 19:17835155-17835155 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.943C>T; p.H315Y; 19:17841681-17841681 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2316C>G; p.A772A; 19:17834605-17834605 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - coding silent |
c.2157T>C; p.F719F; 19:17834894-17834894 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.2430C>T; p.A810A; 19:17832850-17832850 |
skin | malignant_melanoma | Substitution - coding silent |
c.1813C>A; p.L605M; 19:17836025-17836025 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3154G>A; p.E1052K; 19:17830161-17830161 |
skin | malignant_melanoma | Substitution - Missense |
c.1308A>T; p.G436G; 19:17839610-17839610 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.366G>A; p.K122K; 19:17843434-17843434 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2659C>T; p.R887C; 19:17832540-17832540 |
skin | malignant_melanoma | Substitution - Missense |
c.3096C>T; p.A1032A; 19:17830503-17830503 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.109C>G; p.P37A; 19:17844309-17844309 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2659C>T; p.R887C; 19:17832540-17832540 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.115delC; p.Q39fs*108; 19:17844303-17844303 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2659C>T; p.R887C; 19:17832540-17832540 |
prostate | carcinoma | Substitution - Missense |
c.546A>G; p.G182G; 19:17843047-17843047 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2844C>T; p.R948R; 19:17831362-17831362 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2491-7C>T; p.?; 19:17832715-17832715 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Unknown |
c.1717G>A; p.A573T; 19:17837198-17837198 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1533G>T; p.M511I; 19:17838299-17838299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1533G>T; p.M511I; 19:17838299-17838299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.253_254insG; p.S85fs*46; 19:17843831-17843832 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.1533G>T; p.M511I; 19:17838299-17838299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia | Substitution - Missense |
c.1533G>T; p.M511I; 19:17838299-17838299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1533G>T; p.M511I; 19:17838299-17838299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia | Substitution - Missense |
c.3272T>G; p.L1091R; 19:17826846-17826846 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1227C>A; p.D409E; 19:17840257-17840257 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2144T>C; p.V715A; 19:17834907-17834907 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2144T>C; p.V715A; 19:17834907-17834907 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.131_132CC>TT; p.S44F; 19:17844286-17844287 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1580T>C; p.L527P; 19:17838053-17838053 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1580T>C; p.L527P; 19:17838053-17838053 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1580T>C; p.L527P; 19:17838053-17838053 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1580T>C; p.L527P; 19:17838053-17838053 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.976C>G; p.Q326E; 19:17841648-17841648 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1580T>C; p.L527P; 19:17838053-17838053 |
stomach | adenocarcinoma | Substitution - Missense |
c.471G>C; p.K157N; 19:17843122-17843122 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.420+5G>A; p.?; 19:17843375-17843375 |
stomach | carcinoma; diffuse_adenocarcinoma | Unknown |
c.2559C>T; p.A853A; 19:17832640-17832640 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - coding silent |
c.2164G>A; p.V722I; 19:17834887-17834887 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2164G>A; p.V722I; 19:17834887-17834887 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1613G>A; p.G538D; 19:17838020-17838020 |
breast | carcinoma | Substitution - Missense |
c.2879A>C; p.E960A; 19:17831327-17831327 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2653A>G; p.K885E; 19:17832546-17832546 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2536G>A; p.D846N; 19:17832663-17832663 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2536G>A; p.D846N; 19:17832663-17832663 |
skin | malignant_melanoma | Substitution - Missense |
c.1554T>C; p.A518A; 19:17838278-17838278 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2709G>A; p.E903E; 19:17831770-17831770 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2116G>T; p.A706S; 19:17834935-17834935 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.2217G>A; p.E739E; 19:17834704-17834704 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.440G>A; p.S147N; 19:17843153-17843153 |
ovary | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.3241A>T; p.S1081C; 19:17826877-17826877 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1485C>T; p.P495P; 19:17838347-17838347 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1890G>T; p.Q630H; 19:17835948-17835948 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.322A>G; p.N108D; 19:17843478-17843478 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2213A>G; p.Y738C; 19:17834708-17834708 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3306C>T; p.S1102S; 19:17826812-17826812 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2224C>T; p.Q742*; 19:17834697-17834697 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1966G>A; p.A656T; 19:17835164-17835164 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2925G>C; p.P975P; 19:17831281-17831281 |
kidney | other; neoplasm | Substitution - coding silent |
c.394C>A; p.P132T; 19:17843406-17843406 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1575G>C; p.E525D; 19:17838058-17838058 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2504G>A; p.S835N; 19:17832695-17832695 |
kidney | other; neoplasm | Substitution - Missense |
c.24G>A; p.T8T; 19:17844394-17844394 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.3216G>A; p.E1072E; 19:17826902-17826902 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2222G>A; p.R741Q; 19:17834699-17834699 |
breast | carcinoma | Substitution - Missense |
c.3326C>T; p.A1109V; 19:17826792-17826792 |
skin | malignant_melanoma | Substitution - Missense |
c.2021T>C; p.V674A; 19:17835109-17835109 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia | Substitution - Missense |
c.2021T>C; p.V674A; 19:17835109-17835109 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.514C>T; p.R172W; 19:17843079-17843079 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.514C>T; p.R172W; 19:17843079-17843079 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2678C>T; p.P893L; 19:17832521-17832521 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2778C>T; p.L926L; 19:17831701-17831701 |
skin | malignant_melanoma | Substitution - coding silent |
c.2678C>T; p.P893L; 19:17832521-17832521 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1991C>T; p.P664L; 19:17835139-17835139 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.881A>G; p.D294G; 19:17841743-17841743 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.881A>G; p.D294G; 19:17841743-17841743 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1533G>A; p.M511I; 19:17838299-17838299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1533G>A; p.M511I; 19:17838299-17838299 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1533G>A; p.M511I; 19:17838299-17838299 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1533G>A; p.M511I; 19:17838299-17838299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1533G>A; p.M511I; 19:17838299-17838299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1533G>A; p.M511I; 19:17838299-17838299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1533G>A; p.M511I; 19:17838299-17838299 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Substitution - Missense |
c.1533G>A; p.M511I; 19:17838299-17838299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia | Substitution - Missense |
c.1533G>A; p.M511I; 19:17838299-17838299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1533G>A; p.M511I; 19:17838299-17838299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1533G>A; p.M511I; 19:17838299-17838299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia | Substitution - Missense |
c.1533G>A; p.M511I; 19:17838299-17838299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1533G>A; p.M511I; 19:17838299-17838299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia | Substitution - Missense |
c.1533G>A; p.M511I; 19:17838299-17838299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia | Substitution - Missense |
c.1533G>A; p.M511I; 19:17838299-17838299 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1533G>A; p.M511I; 19:17838299-17838299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.28C>G; p.L10V; 19:17844390-17844390 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1699G>A; p.E567K; 19:17837934-17837934 |
skin | malignant_melanoma | Substitution - Missense |
c.1834C>T; p.L612L; 19:17836004-17836004 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2863A>T; p.I955F; 19:17831343-17831343 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1105C>A; p.L369M; 19:17841426-17841426 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1158C>T; p.I386I; 19:17840326-17840326 |
breast | carcinoma | Substitution - coding silent |
c.1974G>A; p.E658E; 19:17835156-17835156 |
breast | carcinoma | Substitution - coding silent |
c.380C>A; p.A127D; 19:17843420-17843420 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.452C>T; p.P151L; 19:17843141-17843141 |
skin | malignant_melanoma | Substitution - Missense |
c.2581G>T; p.G861W; 19:17832618-17832618 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2063T>C; p.I688T; 19:17834988-17834988 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.2096C>T; p.A699V; 19:17834955-17834955 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2063T>C; p.I688T; 19:17834988-17834988 |
stomach | adenocarcinoma | Substitution - Missense |
c.267C>A; p.S89S; 19:17843818-17843818 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.3230G>T; p.C1077F; 19:17826888-17826888 |
breast | carcinoma | Substitution - Missense |
c.1208G>A; p.R403H; 19:17840276-17840276 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1208G>A; p.R403H; 19:17840276-17840276 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2259C>T; p.A753A; 19:17834662-17834662 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1208G>A; p.R403H; 19:17840276-17840276 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.381T>A; p.A127A; 19:17843419-17843419 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1520_1521AG>CA; p.Q507P; 19:17838311-17838312 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia | Substitution - Missense |
c.2020G>T; p.V674F; 19:17835110-17835110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia | Substitution - Missense |
c.1652_1655delCAGA; p.T551fs*4; 19:17837978-17837981 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1777G>A; p.A593T; 19:17837138-17837138 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1458C>T; p.I486I; 19:17838374-17838374 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1458C>T; p.I486I; 19:17838374-17838374 |
skin | malignant_melanoma | Substitution - coding silent |
c.2624T>C; p.L875P; 19:17832575-17832575 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2200-1G>T; p.?; 19:17834722-17834722 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1206C>T; p.R402R; 19:17840278-17840278 |
skin | malignant_melanoma | Substitution - coding silent |
c.1386G>A; p.L462L; 19:17839532-17839532 |
breast | carcinoma | Substitution - coding silent |
c.2842C>T; p.R948C; 19:17831364-17831364 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2528C>A; p.P843Q; 19:17832671-17832671 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2842C>T; p.R948C; 19:17831364-17831364 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2090G>A; p.R697Q; 19:17834961-17834961 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1739C>T; p.S580L; 19:17837176-17837176 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1764C>T; p.H588H; 19:17837151-17837151 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3317A>G; p.E1106G; 19:17826801-17826801 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2959G>T; p.G987C; 19:17831247-17831247 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1477A>C; p.S493R; 19:17838355-17838355 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.329_335delTTGGGCT; p.F110fs*35; 19:17843465-17843471 |
breast | carcinoma | Deletion - Frameshift |
c.1529A>G; p.Q510R; 19:17838303-17838303 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.139G>T; p.D47Y; 19:17844279-17844279 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2962C>T; p.Q988*; 19:17831244-17831244 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1284C>A; p.C428*; 19:17839634-17839634 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Nonsense |
c.1284C>A; p.C428*; 19:17839634-17839634 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2962C>T; p.Q988*; 19:17831244-17831244 |
liver | carcinoma | Substitution - Nonsense |
c.971A>T; p.D324V; 19:17841653-17841653 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1477A>T; p.S493C; 19:17838355-17838355 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2555_2556insA; p.A853fs*29; 19:17832643-17832644 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.968C>G; p.T323R; 19:17841656-17841656 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2773C>A; p.R925S; 19:17831706-17831706 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1520A>G; p.Q507R; 19:17838312-17838312 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1581G>T; p.L527L; 19:17838052-17838052 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1900G>A; p.A634T; 19:17835938-17835938 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3168G>A; p.E1056E; 19:17830147-17830147 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3371C>T; p.S1124L; 19:17826747-17826747 |
breast | carcinoma | Substitution - Missense |
c.1301C>G; p.P434R; 19:17839617-17839617 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1752C>T; p.L584L; 19:17837163-17837163 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1306G>A; p.G436R; 19:17839612-17839612 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3036C>A; p.S1012R; 19:17830563-17830563 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1287C>T; p.L429L; 19:17839631-17839631 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2874_2875insTGG; p.E958_S959insW; 19:17831331-17831332 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - In frame |
c.2570T>A; p.L857Q; 19:17832629-17832629 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1646G>A; p.R549Q; 19:17837987-17837987 |
liver | carcinoma | Substitution - Missense |
c.3023C>G; p.S1008*; 19:17830576-17830576 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Nonsense |
c.2622C>T; p.I874I; 19:17832577-17832577 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1497G>T; p.L499F; 19:17838335-17838335 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2163C>T; p.G721G; 19:17834888-17834888 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3023C>G; p.S1008*; 19:17830576-17830576 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3301G>A; p.G1101R; 19:17826817-17826817 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2032G>T; p.V678L; 19:17835098-17835098 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_prolymphocytic_leukaemia | Substitution - Missense |
c.3301G>A; p.G1101R; 19:17826817-17826817 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.548A>G; p.E183G; 19:17843045-17843045 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.548A>G; p.E183G; 19:17843045-17843045 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia | Substitution - Missense |
c.548A>G; p.E183G; 19:17843045-17843045 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.548A>G; p.E183G; 19:17843045-17843045 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.548A>G; p.E183G; 19:17843045-17843045 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.548A>G; p.E183G; 19:17843045-17843045 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1467G>C; p.Q489H; 19:17838365-17838365 |
breast | carcinoma | Substitution - Missense |
c.2159G>A; p.S720N; 19:17834892-17834892 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1291C>T; p.R431W; 19:17839627-17839627 |
pancreas | carcinoma | Substitution - Missense |
c.545G>A; p.G182E; 19:17843048-17843048 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.542C>T; p.P181L; 19:17843051-17843051 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1442-2A>C; p.?; 19:17838392-17838392 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.2872G>A; p.E958K; 19:17831334-17831334 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia | Substitution - Missense |
c.184G>A; p.G62S; 19:17844234-17844234 |
prostate | carcinoma | Substitution - Missense |
c.2404C>T; p.L802L; 19:17832876-17832876 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1686C>T; p.H562H; 19:17837947-17837947 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - coding silent |
c.815G>A; p.R272H; 19:17842362-17842362 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.815G>A; p.R272H; 19:17842362-17842362 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2825C>T; p.S942F; 19:17831381-17831381 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1580T>G; p.L527R; 19:17838053-17838053 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1921A>G; p.K641E; 19:17835209-17835209 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2551C>A; p.L851M; 19:17832648-17832648 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2046G>T; p.E682D; 19:17835084-17835084 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1320G>A; p.L440L; 19:17839598-17839598 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1028C>T; p.A343V; 19:17841503-17841503 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1714G>A; p.A572T; 19:17837201-17837201 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2906G>T; p.G969V; 19:17831300-17831300 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.115_116insC; p.Q39fs*13; 19:17844302-17844303 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1714G>A; p.A572T; 19:17837201-17837201 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.251delC; p.P84fs*63; 19:17843834-17843834 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3268G>T; p.A1090S; 19:17826850-17826850 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.118C>T; p.R40C; 19:17844300-17844300 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |