| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4853 |
Name | NOTCH2 |
Synonymous | AGS2|HJCYS|hN2;notch 2;NOTCH2;notch 2 |
Definition | Notch homolog 2|neurogenic locus notch homolog protein 2 |
Position | 1p13-p11 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for NOTCH2 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
NOTCH2_S2162F; chr1; 120458860 |
SUB; MISSENSE; G; G/A; SOMATIC | HYPO; VALID; EXOME |
NOTCH2_P1729S; chr1; 120464887 |
SUB; MISSENSE; G; G/A; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.2704G>T; p.G902C; |
liver | carcinoma; hepatocellular_carcinoma |
c.645C>T; p.G215G; |
central_nervous_system; brain | atypical_teratoid-rhabdoid_tumour |
c.7181C>T; p.S2394F; |
lung | carcinoma; adenocarcinoma |
c.6896_6896delA; p.E2299fs*7; 1:120259972-120259972 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.6463_6463delG; p.E2155fs*15; 1:120260405-120260405 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.7030G>T; p.E2344*; 1:120259838-120259838 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
breast | carcinoma; ductal_carcinoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.6871_6883del13; p.G2291fs*11; 1:120259985-120259997 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.7163C>T; p.S2388L; |
lung | carcinoma; squamous_cell_carcinoma |
c.7235_7235delA; p.H2412fs*4; 1:120259633-120259633 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.6404_6408delTGAGT; p.L2135fs*7; 1:120260460-120260464 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.7175_7176insA; p.Y2392fs*1; 1:120259692-120259693 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.6932_6933insC; p.K2312fs*1; 1:120259935-120259936 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.2273A>G; p.K758R; |
prostate | carcinoma |
c.4912C>T; p.H1638Y; 1:120266872-120266872 |
haematopoietic_and_lymphoid_tissue; extranodal | lymphoid_neoplasm; MALT_lymphoma |
c.7021C>T; p.Q2341*; 1:120259847-120259847 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.6867_6871delTGAAG; p.G2291fs*20; |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.7226_7238del13; p.Q2409fs*3; 1:120259630-120259642 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.7256_7257delCA; p.P2419fs*4; 1:120259611-120259612 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.7163C>G; p.S2388*; 1:120259705-120259705 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.7021C>T; p.Q2341*; 1:120259847-120259847 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.6854_6854delA; p.Q2285fs*10; 1:120260014-120260014 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.6896_6896delA; p.E2299fs*7; 1:120259972-120259972 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.6774_6799del26; p.E2258fs*10; 1:120260069-120260094 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.6665G>T; p.S2222I; 1:120260203-120260203 |
lung | carcinoma; adenocarcinoma |
c.6909_6910insC; p.I2304fs*9; 1:120259958-120259959 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.4999G>A; p.V1667I; 1:120266785-120266785 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.6304A>T; p.K2102*; 1:120260564-120260564 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.6824C>A; p.A2275D; 1:120260044-120260044 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.6834_6834C>GCACG; p.P2280fs*12; 1:120260034-120260034 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.6853C>T; p.Q2285*; 1:120260015-120260015 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.6853C>T; p.Q2285*; 1:120260015-120260015 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.6868G>A; p.E2290K; 1:120260000-120260000 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.6973C>T; p.Q2325*; 1:120259895-120259895 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.6909_6909delC; p.I2304fs*2; 1:120259959-120259959 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.6909_6909delC; p.I2304fs*2; 1:120259959-120259959 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.6909_6909delC; p.I2304fs*2; 1:120259959-120259959 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.7072A>G; p.M2358V; 1:120259796-120259796 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.6909_6910insC; p.I2304fs*9; 1:120259958-120259959 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.6910_6910A>CCC; p.I2304fs*3; 1:120259958-120259958 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.6973C>T; p.Q2325*; 1:120259895-120259895 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.7231G>T; p.E2411*; 1:120259637-120259637 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; MALT_lymphoma |
c.?; p.P6fs; |
skin | malignant_melanoma |
c.?; p.P2335S; |
skin | malignant_melanoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
NS | NS |
c.?; p.S1068G; |
lung | carcinoma; adenocarcinoma |
c.?; p.S1068G; |
lung | carcinoma; adenocarcinoma |
c.?; p.S1068G; |
lung | carcinoma; adenocarcinoma |
c.337C>T; p.R113*; 1:120349553-120349553 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.660C>A; p.S220R; 1:120341234-120341234 |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.337C>T; p.R113*; 1:120349553-120349553 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.166G>A; p.G56S; 1:120349724-120349724 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.2839C>T; p.Q947*; 1:120285814-120285814 |
skin; ear | carcinoma; squamous_cell_carcinoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.4534C>T; p.H1512Y; |
skin; neck | malignant_melanoma |
c.4533C>T; p.D1511D; |
skin; neck | malignant_melanoma |
c.6073G>A; p.A2025T; |
NS | malignant_melanoma |
c.2144C>T; p.P715L; |
NS | malignant_melanoma |
c.6073G>A; p.A2025T; |
NS | malignant_melanoma |
c.2144C>T; p.P715L; |
NS | malignant_melanoma |
c.1362G>C; p.E454D; |
liver | carcinoma; hepatocellular_carcinoma |
c.8C>T; p.A3V; |
NS | malignant_melanoma |
c.8C>T; p.A3V; |
NS | malignant_melanoma |
c.17_18delCC; p.P6fs*27; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK-T_cell_lymphoma |
c.3625T>G; p.F1209V; 1:120279648-120279648 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.7175_7176insA; p.Y2392fs*1; 1:120259692-120259693 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.7090C>T; p.Q2364*; 1:120259778-120259778 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.5683C>T; p.R1895C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1264G>T; p.A422S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.752-2A>G; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6056G>T; p.R2019L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4592G>T; p.G1531V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.1445G>T; p.C482F; |
lung | carcinoma; small_cell_carcinoma |
c.1957C>A; p.P653T; |
lung | carcinoma; small_cell_carcinoma |
c.6373G>A; p.D2125N; |
pancreas | carcinoma |
c.5416G>A; p.A1806T; |
lung | carcinoma; adenocarcinoma |
c.4889G>T; p.R1630L; |
lung | carcinoma; adenocarcinoma |
c.5637G>A; p.M1879I; |
lung | carcinoma; undifferentiated_carcinoma |
c.7078C>T; p.Q2360*; 1:120259790-120259790 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.2546_2547delAA; p.K849fs*6; |
pancreas | carcinoma; acinar_carcinoma |
c.2026+9C>G; p.?; |
liver | carcinoma |
c.628C>T; p.P210S; |
liver | carcinoma |
c.1801G>T; p.G601C; 1:120307834-120307834 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.5209C>T; p.L1737L; 1:120266386-120266386 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.6158G>A; p.R2053H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.614A>G; p.Y205C; |
liver | carcinoma; hepatocellular_carcinoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.6418C>T; p.Q2140*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.6094C>A; p.H2032N; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4000C>G; p.P1334A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.7342G>T; p.A2448S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.2256C>T; p.I752I; |
oesophagus | carcinoma; adenocarcinoma |
c.8C>T; p.A3V; |
oesophagus | carcinoma; adenocarcinoma |
c.2779A>G; p.M927V; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.7315G>A; p.V2439M; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.1355G>A; p.R452H; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.5053G>T; p.A1685S; |
oesophagus | carcinoma; adenocarcinoma |
c.5065A>T; p.I1689F; |
stomach | carcinoma; adenocarcinoma |
c.332T>G; p.V111G; |
stomach | carcinoma; adenocarcinoma |
c.1093C>A; p.P365T; |
lung | carcinoma; adenocarcinoma |
c.6223G>A; p.V2075M; 1:120260645-120260645 |
lung | carcinoma; squamous_cell_carcinoma |
c.5192G>A; p.G1731E; |
lung | carcinoma; adenocarcinoma |
c.3451G>A; p.D1151N; |
liver | carcinoma |
c.3473G>A; p.C1158Y; |
liver | carcinoma |
c.61G>A; p.A21T; |
liver | carcinoma |
c.4743G>T; p.R1581R; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.2161G>T; p.V721L; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.6314G>A; p.R2105Q; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.2548G>T; p.E850*; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.2570A>G; p.Y857C; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.6373G>A; p.D2125N; |
pancreas | carcinoma; ductal_carcinoma |
c.6446C>T; p.S2149F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6864delA; p.P2289fs*6; 1:120260004-120260004 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4489C>T; p.Q1497*; |
skin; arm | malignant_melanoma |
c.4488C>T; p.C1496C; |
skin; arm | malignant_melanoma |
c.1349G>T; p.G450V; |
lung | carcinoma; adenocarcinoma |
c.1480G>C; p.E494Q; |
lung | carcinoma; adenocarcinoma |
c.1309G>C; p.D437H; |
lung | carcinoma; adenocarcinoma |
c.1961G>A; p.C654Y; |
lung | carcinoma; adenocarcinoma |
c.6531G>T; p.Q2177H; |
lung | carcinoma; adenocarcinoma |
c.2788G>T; p.V930L; |
lung | carcinoma; adenocarcinoma |
c.3149G>C; p.S1050T; |
lung | carcinoma; adenocarcinoma |
c.6354C>G; p.N2118K; |
lung | carcinoma; adenocarcinoma |
c.6733C>T; p.H2245Y; |
lung | carcinoma; adenocarcinoma |
c.1754A>G; p.Q585R; |
lung | carcinoma; adenocarcinoma |
c.1015A>G; p.I339V; |
lung | carcinoma; adenocarcinoma |
c.6314G>T; p.R2105L; |
lung | carcinoma; adenocarcinoma |
c.4544A>G; p.D1515G; |
lung | carcinoma; adenocarcinoma |
c.5686C>T; p.L1896F; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.2109T>C; p.G703G; |
meninges | meningioma |
c.1406C>T; p.A469V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.4750C>T; p.Q1584*; 1:120267892-120267892 |
lung | carcinoma; non_small_cell_carcinoma |
c.5663C>G; p.S1888*; 1:120263576-120263576 |
lung | carcinoma; non_small_cell_carcinoma |
c.5192G>A; p.G1731E; |
lung | carcinoma; bronchioloalveolar_adenocarcinoma |
c.57C>G; p.C19W; |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_III |
c.2980_2981delAG; p.S994fs*10; |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_III |
c.17_18delCC; p.P6fs*27; |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_III |
c.6724A>C; p.S2242R; |
prostate | carcinoma |
c.5218C>T; p.L1740F; |
pancreas | carcinoma; ductal_carcinoma |
c.6223G>A; p.V2075M; 1:120260645-120260645 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3142C>T; p.R1048C; 1:120284742-120284742 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.6920_6921insA; p.F2307fs*6; |
salivary_gland | carcinoma; adenoid_cystic_carcinoma |
c.7258G>T; p.E2420*; |
salivary_gland | carcinoma; adenoid_cystic_carcinoma |
c.6222C>T; p.T2074T; |
breast | carcinoma |
c.4541A>G; p.K1514R; |
breast | carcinoma |
c.1141A>C; p.S381R; |
prostate | carcinoma |
c.8C>T; p.A3V; |
prostate | carcinoma |
c.3011A>C; p.D1004A; |
liver | carcinoma |
c.751+7A>C; p.?; |
liver | carcinoma |
c.?; p.P1913S; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.?; p.C861Y; |
skin; forearm | carcinoma; squamous_cell_carcinoma |
c.?; p.C433Y; |
skin; hand | carcinoma; squamous_cell_carcinoma |
c.?; p.G1751D; |
skin; hand | carcinoma; squamous_cell_carcinoma |
c.?; p.P2343S; |
skin; hand | carcinoma; squamous_cell_carcinoma |
c.?; p.D1451N; |
skin; hand | carcinoma; squamous_cell_carcinoma |
c.?; p.C616F; |
skin; ear | carcinoma; squamous_cell_carcinoma |
c.4888C>T; p.R1630C; |
skin; upper_leg | malignant_melanoma |
c.4808_4809delAG; p.R1604fs*9; |
ovary | carcinoma; adenocarcinoma |
c.5968G>A; p.V1990M; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.2084C>A; p.A695E; |
autonomic_ganglia | neuroblastoma |
c.527G>T; p.G176V; |
lung | carcinoma; adenocarcinoma |
c.5841C>T; p.P1947P; |
lung | carcinoma; adenocarcinoma |
c.6314G>T; p.R2105L; |
lung | carcinoma; adenocarcinoma |
c.1089G>C; p.M363I; |
lung | carcinoma; adenocarcinoma |
c.2369A>G; p.Y790C; 1:120294980-120294980 |
ovary | carcinoma; serous_carcinoma |
c.1325G>C; p.C442S; |
lung | carcinoma; squamous_cell_carcinoma |
c.?; p.D1733Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.4990G>T; p.V1664L; |
lung | carcinoma; squamous_cell_carcinoma |
c.4018G>T; p.A1340S; 1:120269944-120269944 |
ovary | carcinoma; serous_carcinoma |
c.4304G>A; p.R1435Q; |
ovary | carcinoma; serous_carcinoma |
c.2694A>G; p.E898E; 1:120292618-120292618 |
ovary | carcinoma; serous_carcinoma |
c.5792G>A; p.R1931H; 1:120262689-120262689 |
ovary | carcinoma; serous_carcinoma |
c.15C>T; p.R5R; |
ovary | carcinoma; serous_carcinoma |
c.4044A>T; p.Q1348H; |
lung | carcinoma; squamous_cell_carcinoma |
c.19G>C; p.A7P; |
lung | carcinoma; squamous_cell_carcinoma |
c.3177C>G; p.N1059K; |
lung | carcinoma; squamous_cell_carcinoma |
c.1362G>C; p.E454D; |
lung | carcinoma; squamous_cell_carcinoma |
c.5227C>G; p.Q1743E; |
ovary | carcinoma; serous_carcinoma |
c.?; p.Q1392*; |
lung | carcinoma; squamous_cell_carcinoma |
c.4174C>T; p.Q1392*; |
lung | carcinoma; squamous_cell_carcinoma |
c.3691C>G; p.R1231G; |
lung | carcinoma; adenocarcinoma |
c.1385C>G; p.S462*; |
lung | carcinoma; adenocarcinoma |
c.1475A>G; p.E492G; |
lung | carcinoma; squamous_cell_carcinoma |
c.8C>T; p.A3V; |
lung | carcinoma; adenocarcinoma |
c.2970G>C; p.E990D; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2970G>C; p.E990D; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.414A>T; p.T138T; |
lung | carcinoma; adenocarcinoma |
c.984C>T; p.N328N; |
lung | carcinoma; squamous_cell_carcinoma |
c.5251G>T; p.G1751C; |
lung | carcinoma; squamous_cell_carcinoma |
c.1761T>C; p.G587G; |
lung | carcinoma; squamous_cell_carcinoma |
c.1429G>C; p.G477R; |
lung | carcinoma; adenocarcinoma |
c.4834G>A; p.G1612S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4999G>A; p.V1667I; 1:120266785-120266785 |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.6999G>T; p.A2333A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1460A>T; p.K487I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2679C>A; p.G893G; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.7143C>T; p.G2381G; |
breast | carcinoma |
c.4548C>A; p.N1516K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4018G>A; p.A1340T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4254delC; p.S1419fs*8; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.986G>T; p.G329V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.835G>A; p.V279I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5089_5090insG; p.V1697fs*9; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2995G>T; p.G999C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1605C>A; p.D535E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1911G>A; p.T637T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.623A>C; p.Q208P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5218C>A; p.L1740I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5924A>G; p.D1975G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3116C>T; p.T1039M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1681G>T; p.G561C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1032C>T; p.F344F; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.99A>G; p.E33E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5523C>T; p.S1841S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3178T>G; p.C1060G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3381C>T; p.I1127I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4155C>T; p.H1385H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5537A>G; p.D1846G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5093T>A; p.I1698N; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.246G>T; p.Q82H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5356C>T; p.R1786*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6106C>T; p.R2036*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4221G>A; p.S1407S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2894C>G; p.S965C; |
breast | carcinoma |
c.804G>T; p.R268S; |
breast | carcinoma |
c.3396G>A; p.T1132T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1697T>C; p.L566S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5176C>T; p.R1726C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5236G>T; p.E1746*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5134C>T; p.P1712S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7039C>T; p.R2347C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1698G>T; p.L566F; |
breast | carcinoma |
c.2392G>T; p.E798*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6486C>T; p.S2162S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1063G>A; p.D355N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5664A>G; p.S1888S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4912C>T; p.H1638Y; 1:120266872-120266872 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.952C>T; p.R318C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6223G>A; p.V2075M; 1:120260645-120260645 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4094G>A; p.R1365H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2124C>T; p.C708C; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.5176C>T; p.R1726C; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.5696C>T; p.A1899V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2730G>T; p.E910D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2141A>G; p.H714R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4996G>T; p.V1666F; |
breast | carcinoma |
c.2346T>C; p.T782T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1147C>A; p.P383T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.703A>T; p.T235S; |
breast | carcinoma |
c.2763G>A; p.Q921Q; |
breast | carcinoma |
c.2901delC; p.Y967fs*1; |
breast | carcinoma |
c.4889G>A; p.R1630H; |
breast | carcinoma |
c.1252G>A; p.E418K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1524G>A; p.Q508Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6830G>A; p.G2277D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5277C>T; p.V1759V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.757G>C; p.E253Q; |
urinary_tract; bladder | carcinoma |
c.5791C>T; p.R1931C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4644T>C; p.V1548V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.537T>A; p.C179*; |
prostate | carcinoma; adenocarcinoma |
c.7G>T; p.A3S; |
prostate | carcinoma; adenocarcinoma |
c.8C>T; p.A3V; |
prostate | carcinoma; adenocarcinoma |
c.1801G>T; p.G601C; 1:120307834-120307834 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4229G>A; p.R1410H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.5714C>A; p.A1905D; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2369A>G; p.Y790C; 1:120294980-120294980 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1923T>C; p.N641N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6223G>A; p.V2075M; 1:120260645-120260645 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6224T>C; p.V2075A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7300T>C; p.S2434P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.984C>T; p.N328N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5556G>T; p.E1852D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4246G>T; p.A1416S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2326G>A; p.V776M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5180G>A; p.R1727H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.942C>T; p.T314T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2167G>A; p.E723K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.568G>A; p.G190R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6223G>A; p.V2075M; 1:120260645-120260645 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4750C>T; p.Q1584*; 1:120267892-120267892 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2523T>C; p.P841P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.7198C>A; p.R2400R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7281T>G; p.S2427R; |
cervix | carcinoma; squamous_cell_carcinoma |
c.5684G>A; p.R1895H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.991A>G; p.S331G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6909_6910insC; p.I2304fs*9; 1:120259958-120259959 |
breast | carcinoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
breast | carcinoma |
c.3470C>A; p.P1157H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1803C>T; p.G601G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4750C>A; p.Q1584K; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.874G>A; p.G292R; |
urinary_tract; bladder | carcinoma |
c.8C>T; p.A3V; |
urinary_tract; bladder | carcinoma |
c.1385C>G; p.S462*; |
urinary_tract; bladder | carcinoma |
c.5904G>A; p.A1968A; |
urinary_tract; bladder | carcinoma |
c.5692G>A; p.D1898N; |
urinary_tract; bladder | carcinoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3461C>T; p.A1154V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.7358G>A; p.R2453Q; 1:120259510-120259510 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.7198C>T; p.R2400*; 1:120259670-120259670 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.6655C>T; p.P2219S; |
skin | malignant_melanoma |
c.7003C>T; p.P2335S; |
skin | malignant_melanoma |
c.2888_2889CC>TT; p.T963I; |
skin | malignant_melanoma |
c.5512C>T; p.R1838*; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.1354C>T; p.R452C; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.989G>A; p.W330*; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.671C>T; p.P224L; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.?; p.N46S; |
skin; ear | carcinoma; squamous_cell_carcinoma |
c.?; p.E38K; |
skin; ear | carcinoma; squamous_cell_carcinoma |
c.6833C>T; p.T2278I; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.4900C>T; p.Q1634*; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.937G>T; p.G313C; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.5507C>T; p.S1836F; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.889G>A; p.E297K; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.4846C>T; p.Q1616*; |
skin; ear | carcinoma; squamous_cell_carcinoma |
c.1463G>A; p.G488D; |
skin; ear | carcinoma; squamous_cell_carcinoma |
c.4879A>G; p.I1627V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.7030G>A; p.E2344K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |