| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2033 |
Name | EP300 |
Synonymous | KAT3B|RSTS2|p300;E1A binding protein p300;EP300;E1A binding protein p300 |
Definition | E1A-associated protein p300|E1A-binding protein, 300kD|histone acetyltransferase p300|p300 HAT |
Position | 22q13.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for EP300 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
EP300_R1356*; chr22; 41564765 |
SUB; NONSENSE; C; C/T; SOMATIC | LGG; VALID; WGS |
EP300_L827I; chr22; 41545864 |
SUB; MISSENSE; C; C/A; SOMATIC | MB; PUTATIVE-HQ; TARGETED_SEQUENCING |
EP300_Q2210_Q2215fs; chr22; 41574345 |
DEL; FRAMESHIFT; GTTCCAGCAACCCC; GTTCCAGCAACCCC/-; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
EP300_Q2210_Q2215fs; chr22; 41574345 |
DEL; FRAMESHIFT; GTTCCAGCAACCCC; GTTCCAGCAACCCC/-; SOMATIC | RHB; PUTATIVE-HQ; WGS |
EP300_L1639P; chr22; 41572387 |
SUB; MISSENSE; T; T/C; SOMATIC | T-ALL; VALID; WGS |
EP300_R626_E10splice; chr22; 41537051 |
SUB; SPLICE; G; G/A; SOMATIC | T-ALL; VALID; WGS |
EP300_T1632>RTT; chr22; 41572366 |
IPROTEINI-; -/GGACCA; SOMATIC | T-ALL; VALID; |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.4492G>A; p.A1498T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.5368T>G; p.C1790G; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.5368T>G; p.C1790G; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1839G>C; p.R613R; |
lung | carcinoma; squamous_cell_carcinoma |
c.1936G>C; p.E646Q; |
breast | carcinoma; HER-positive_carcinoma |
c.4874A>T; p.D1625V; |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.1519A>G; p.S507G; 22:39857574-39857574 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.5095delA; p.N1700fs*9; 22:39902756-39902756 |
breast | carcinoma |
c.?; p.P925L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.5030_5036delTGGAGAC; p.V1677fs*30; 22:39902447-39902453 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.4617+1G>A; p.?; 22:39898614-39898614 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.3442_3447delGTCTTT; p.V1148_F1149delVF; 22:39883299-39883304 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma |
c.3442_3447delGTCTTT; p.V1148_F1149delVF; 22:39883299-39883304 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma |
c.4241A>G; p.Y1414C; |
liver | carcinoma; hepatocellular_carcinoma |
c.6584A>G; p.Q2195R; |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.1019A>T; p.Q340L; |
salivary_gland; parotid | carcinoma; acinic_cell_carcinoma |
c.4408delA; p.M1470fs*26; 22:39896477-39896477 |
stomach | carcinoma; adenocarcinoma |
c.4408delA; p.M1470fs*26; 22:39896477-39896477 |
stomach | carcinoma; adenocarcinoma |
c.6970_6971insC; p.H2324fs*55; |
stomach | carcinoma; adenocarcinoma |
c.4408delA; p.M1470fs*26; 22:39896477-39896477 |
large_intestine | carcinoma; adenocarcinoma |
c.4408delA; p.M1470fs*26; 22:39896477-39896477 |
large_intestine | carcinoma; adenocarcinoma |
c.6970_6971insC; p.H2324fs*55; |
large_intestine | carcinoma; adenocarcinoma |
c.6970_6971insC; p.H2324fs*55; |
large_intestine | carcinoma; adenocarcinoma |
c.4540G>A; p.E1514K; |
lung | carcinoma; squamous_cell_carcinoma |
c.2773C>A; p.P925T; 22:39876104-39876104 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.5711A>C; p.Q1904P; 22:39903372-39903372 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.6574_6585del12; p.Q2192_Q2195delQQQQ; 22:39904235-39904246 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1768G>C; p.A590P; 22:39866097-39866097 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1519A>G; p.S507G; 22:39857574-39857574 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.376A>G; p.M126V; 22:39843418-39843418 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4154G>T; p.C1385F; |
lung | carcinoma; small_cell_carcinoma |
c.4114T>C; p.C1372R; |
lung | carcinoma; small_cell_carcinoma |
c.4364A>G; p.Q1455R; |
lung | carcinoma; small_cell_carcinoma |
c.2524C>T; p.P842S; |
NS | malignant_melanoma |
c.2524C>T; p.P842S; |
NS | malignant_melanoma |
c.5189C>T; p.S1730F; |
lung | carcinoma; small_cell_carcinoma |
c.2921A>G; p.Q974R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1651C>T; p.P551S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4397G>T; p.W1466L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6645A>C; p.Q2215H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5956C>G; p.P1986A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5585A>C; p.Q1862P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5807C>T; p.A1936V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1190G>A; p.R397Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1811G>A; p.R604Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6892C>T; p.Q2298*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3548G>A; p.C1183Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4286+1G>T; p.?; |
NS | NS |
c.4933C>A; p.R1645R; |
skin; back | malignant_melanoma |
c.743A>C; p.N248T; |
pancreas | carcinoma; acinar_carcinoma |
c.2620C>T; p.Q874*; |
urinary_tract; bladder | carcinoma |
c.4454A>T; p.D1485V; |
urinary_tract; bladder | carcinoma |
c.4372_4377delCCCAAG; p.P1460_K1461delPK; |
urinary_tract; bladder | carcinoma |
c.2470C>T; p.Q824*; |
urinary_tract; bladder | carcinoma |
c.4662G>C; p.K1554N; |
urinary_tract; bladder | carcinoma |
c.6883C>A; p.Q2295K; |
urinary_tract; bladder | carcinoma |
c.193C>T; p.Q65*; |
urinary_tract; bladder | carcinoma |
c.4879C>T; p.R1627W; 22:39902296-39902296 |
urinary_tract; bladder | carcinoma |
c.4239_4240insT; p.Y1414fs*3; |
urinary_tract; bladder | carcinoma |
c.4377_4388del12; p.P1460_L1463delPKRL; |
urinary_tract; bladder | carcinoma |
c.4352A>T; p.H1451L; |
urinary_tract; bladder | carcinoma |
c.4561G>C; p.E1521Q; |
urinary_tract; bladder | carcinoma |
c.644_654del11; p.G216fs*2; |
urinary_tract; bladder | carcinoma |
c.3142+5G>A; p.?; 22:39878305-39878305 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma |
c.3142+5G>A; p.?; 22:39878305-39878305 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma |
c.4025+1G>A; p.?; 22:39894550-39894550 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.(4025)ins18; p.(1409)ins6; |
breast | carcinoma |
c.3262-2A>G; p.?; 22:39883117-39883117 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.1169T>G; p.V390G; |
liver | carcinoma; hepatocellular_carcinoma |
c.1169T>G; p.V390G; |
liver | carcinoma; hepatocellular_carcinoma |
c.2840T>C; p.I947T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1623-(43)del3; p.?; |
lung | carcinoma |
c.6662C>A; p.P2221Q; 22:39904323-39904323 |
large_intestine | carcinoma; adenocarcinoma |
c.1738C>T; p.R580*; 22:39863718-39863718 |
large_intestine | carcinoma; adenocarcinoma |
c.4517G>T; p.G1506V; 22:39898513-39898513 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1244T>C; p.L415P; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4399T>C; p.Y1467H; |
haematopoietic_and_lymphoid_tissue; tonsil | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.?; p.E1014*; |
large_intestine | carcinoma; adenocarcinoma |
c.2983G>T; p.E995*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1636G>A; p.E546K; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.4607A>G; p.E1536G; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1738C>T; p.R580*; 22:39863718-39863718 |
oesophagus | carcinoma; adenocarcinoma |
c.5587C>T; p.P1863S; |
oesophagus | carcinoma; adenocarcinoma |
c.4408delA; p.M1470fs*26; 22:39896477-39896477 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4399T>A; p.Y1467N; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.4189T>C; p.Y1397H; 22:39895469-39895469 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.6523A>C; p.M2175L; 22:39904184-39904184 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.?; p.Q2210_Q2213del; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.4310C>T; p.A1437V; |
lung | carcinoma; squamous_cell_carcinoma |
c.4186T>C; p.S1396P; |
lung | carcinoma; small_cell_carcinoma |
c.4508A>C; p.Y1503S; |
lung | carcinoma; small_cell_carcinoma |
c.3270T>A; p.F1090L; |
lung | carcinoma; small_cell_carcinoma |
c.3996C>T; p.T1332T; |
lung | carcinoma; small_cell_carcinoma |
c.3875-2A>G; p.?; |
lung | carcinoma; small_cell_carcinoma |
c.3117G>A; p.P1039P; |
liver | carcinoma |
c.1393G>T; p.E465*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4751T>G; p.L1584R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.726_729+1delTAAGg; p.?; |
liver | carcinoma |
c.5095delA; p.N1700fs*9; 22:39902756-39902756 |
large_intestine | carcinoma; adenocarcinoma |
c.5099delA; p.N1700fs*9; |
large_intestine; colon | carcinoma |
c.3040G>T; p.E1014*; 22:39878198-39878198 |
large_intestine | carcinoma; adenocarcinoma |
c.3040G>T; p.E1014*; 22:39878198-39878198 |
large_intestine; colon | carcinoma |
c.5095delA; p.N1700fs*9; 22:39902756-39902756 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4401_4402insA; p.M1470fs*3; 22:39896470-39896471 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4154G>T; p.C1385F; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.924G>A; p.P308P; |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma |
c.4154G>T; p.C1385F; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.4195G>A; p.D1399N; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.1881G>A; p.A627A; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.4401_4402insA; p.M1470fs*3; 22:39896470-39896471 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5056_5057delTG; p.C1686fs*1; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.4355C>T; p.P1452L; 22:39896424-39896424 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2282A>G; p.Q761R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5850G>T; p.R1950S; 22:39903511-39903511 |
lung | carcinoma |
c.4355C>T; p.P1452L; 22:39896424-39896424 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma |
c.4955T>C; p.M1652T; |
lung | carcinoma; adenocarcinoma |
c.2779_2780insC; p.T928fs*21; 22:39876110-39876111 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4401_4402insA; p.M1470fs*3; 22:39896470-39896471 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.256C>T; p.R86*; 22:39843298-39843298 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2707G>T; p.A903S; |
lung | carcinoma; adenocarcinoma |
c.3124G>A; p.G1042R; |
lung | carcinoma; adenocarcinoma |
c.4880G>A; p.R1627Q; |
lung | carcinoma; adenocarcinoma |
c.1335_1336GG>TT; p.G446C; |
lung | carcinoma; adenocarcinoma |
c.4391A>T; p.Q1464L; |
lung | carcinoma; adenocarcinoma |
c.3900C>T; p.T1300T; |
lung | carcinoma; adenocarcinoma |
c.3591_3728del138; p.Y1198_L1243del; 22:39886592-39888729 |
breast | carcinoma |
c.5061+2T>A; p.?; 22:39902480-39902480 |
breast | carcinoma |
c.6633C>A; p.F2211L; |
NS | NS |
c.4066C>T; p.R1356*; |
breast | carcinoma |
c.4400A>G; p.Y1467C; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.4195G>A; p.D1399N; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.2480T>C; p.L827P; 22:39875811-39875811 |
breast | carcinoma |
c.3038A>G; p.E1013G; 22:39878196-39878196 |
breast | carcinoma |
c.1927G>A; p.E643K; |
skin; trunk | malignant_melanoma |
c.4925C>T; p.S1642F; |
skin; extremity | malignant_melanoma |
c.2777delC; p.P927fs*19; |
meninges | meningioma |
c.2743C>T; p.R915C; |
autonomic_ganglia | neuroblastoma |
c.2692C>T; p.Q898*; |
autonomic_ganglia | neuroblastoma |
c.5188delT; p.S1730fs*4; 22:39902849-39902849 |
ovary | carcinoma |
c.5188delT; p.S1730fs*4; 22:39902849-39902849 |
ovary | carcinoma |
c.5346C>A; p.C1782*; |
ovary | carcinoma |
c.5188delT; p.S1730fs*4; 22:39902849-39902849 |
ovary | carcinoma |
c.6802C>A; p.Q2268K; |
prostate | carcinoma |
c.2546T>C; p.I849T; |
pancreas | carcinoma; ductal_carcinoma |
c.4880delG; p.D1628fs*81; |
NS | NS |
c.3742_3743delAC; p.T1248fs*15; |
salivary_gland | carcinoma; adenoid_cystic_carcinoma |
c.2957A>T; p.Q986L; |
breast | carcinoma |
c.2090G>A; p.S697N; |
breast | carcinoma |
c.1854C>G; p.D618E; |
NS | NS |
c.5038C>T; p.R1680C; 22:39902455-39902455 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4195G>T; p.D1399Y; 22:39895475-39895475 |
stomach | carcinoma; adenocarcinoma |
c.3671+1G>A; p.?; |
pancreas | NS |
c.4461_4462insT; p.K1488fs*1; |
pancreas | NS |
c.4949C>A; p.S1650Y; 22:39902366-39902366 |
pancreas | carcinoma; ductal_carcinoma |
c.3143_3590del448; p.I1048fs*30; |
pancreas | carcinoma; ductal_carcinoma |
c.3728+4A>C; p.?; |
liver | carcinoma |
c.3391T>A; p.Y1131N; |
liver | carcinoma |
c.2405C>T; p.P802L; |
kidney | carcinoma; renal_cell_carcinoma |
c.187C>T; p.Q63*; 22:39843229-39843229 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma |
c.4453-3C>G; p.?; |
lung | carcinoma; small_cell_carcinoma |
c.3857A>G; p.N1286S; |
lung | carcinoma; small_cell_carcinoma |
c.4123G>C; p.G1375R; |
lung | carcinoma; small_cell_carcinoma |
c.3358G>T; p.D1120Y; |
lung | carcinoma; small_cell_carcinoma |
c.3410G>T; p.R1137L; |
lung | carcinoma; small_cell_carcinoma |
c.4195G>T; p.D1399Y; 22:39895475-39895475 |
lung | carcinoma; small_cell_carcinoma |
c.4066C>T; p.R1356*; |
NS | NS |
c.4916T>C; p.L1639P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.1879-1G>A; p.?; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.4241A>G; p.Y1414C; |
ovary | carcinoma; adenocarcinoma |
c.5860_5861insTTG; p.H1954>LD; |
central_nervous_system; brain | glioma |
c.4796G>A; p.R1599H; 22:39902213-39902213 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.2461C>T; p.Q821*; 22:39875792-39875792 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4879C>T; p.R1627W; 22:39902296-39902296 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4710A>T; p.K1570N; 22:39899665-39899665 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4636delA; p.N1547fs*17; 22:39899591-39899591 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4025+(28)del3; p.?; |
breast | carcinoma |
c.4319C>T; p.P1440L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5195G>A; p.R1732H; |
endometrium | carcinoma; serous_carcinoma |
c.6427G>A; p.A2143T; 22:39904088-39904088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.6969C>G; p.P2323P; 22:39904630-39904630 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.6951G>A; p.R2317R; 22:39904612-39904612 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.4009C>T; p.P1337S; 22:39894533-39894533 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.5638C>T; p.P1880S; 22:39903299-39903299 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.6489C>T; p.P2163P; |
lung | carcinoma; squamous_cell_carcinoma |
c.4893C>T; p.L1631L; |
lung | carcinoma; squamous_cell_carcinoma |
c.4173-2A>G; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.4195G>A; p.D1399N; |
lung | carcinoma; squamous_cell_carcinoma |
c.6375C>A; p.H2125Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.3934C>T; p.R1312*; 22:39894458-39894458 |
ovary | carcinoma; serous_carcinoma |
c.1906A>G; p.K636E; |
ovary | carcinoma; serous_carcinoma |
c.4241A>G; p.Y1414C; |
lung | carcinoma; squamous_cell_carcinoma |
c.769T>G; p.Y257D; |
lung | carcinoma; squamous_cell_carcinoma |
c.4513G>T; p.E1505*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4193T>C; p.L1398P; |
lung | carcinoma; squamous_cell_carcinoma |
c.5633C>A; p.T1878N; |
lung | carcinoma; squamous_cell_carcinoma |
c.4195G>A; p.D1399N; |
lung | carcinoma; squamous_cell_carcinoma |
c.6367G>T; p.G2123W; |
lung | carcinoma; squamous_cell_carcinoma |
c.39C>G; p.A13A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.6783G>A; p.Q2261Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4287-1G>C; p.?; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.6226G>T; p.A2076S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4287-2A>T; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3560G>A; p.R1187H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4048G>A; p.A1350T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.188A>G; p.Q63R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3831G>T; p.K1277N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4880G>T; p.R1627L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5485C>T; p.R1829C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3038A>G; p.E1013G; 22:39878196-39878196 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5553T>C; p.T1851T; |
breast | carcinoma |
c.2299C>T; p.Q767*; |
breast | carcinoma |
c.1810C>G; p.R604G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.197C>T; p.T66I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1702C>T; p.R568W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6662C>T; p.P2221L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2462A>G; p.Q821R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4710A>G; p.K1570K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1206C>T; p.H402H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.444G>A; p.T148T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4710A>G; p.K1570K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2512C>T; p.R838C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4886C>T; p.A1629V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6819T>G; p.V2273V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3653A>G; p.D1218G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.579C>T; p.N193N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5875A>G; p.M1959V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1739G>A; p.R580Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4130A>G; p.H1377R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.251T>C; p.L84S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3641C>A; p.S1214Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4879C>T; p.R1627W; 22:39902296-39902296 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1145G>A; p.C382Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3041A>G; p.E1014G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6772C>T; p.Q2258*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5710C>T; p.Q1904*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4709A>G; p.K1570R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2518C>A; p.P840T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.7121C>A; p.S2374Y; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2820T>G; p.L940L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1436A>C; p.Q479P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3355G>A; p.D1119N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3841C>T; p.R1281*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.378G>A; p.M126I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3338A>T; p.E1113V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.95-2A>G; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.746A>G; p.N249S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3684A>C; p.K1228N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3810C>T; p.F1270F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1521C>T; p.S507S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4011A>T; p.P1337P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4795C>A; p.R1599S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3039A>G; p.E1013E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5193C>T; p.R1731R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6022T>C; p.S2008P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.6597A>G; p.P2199P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.498C>A; p.N166K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4933C>T; p.R1645*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5842T>A; p.F1948I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1739G>A; p.R580Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1796C>A; p.A599D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2789C>T; p.P930L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3302C>T; p.T1101I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3842G>A; p.R1281Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4352A>G; p.H1451R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2299C>T; p.Q767*; |
breast | carcinoma |
c.7079A>G; p.E2360G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4886C>T; p.A1629V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5014G>T; p.E1672*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3377A>G; p.N1126S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.181delA; p.I61fs*55; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6023C>T; p.S2008F; |
breast | carcinoma |
c.18G>A; p.V6V; |
breast | carcinoma |
c.6892C>T; p.Q2298*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4189T>G; p.Y1397D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1778C>A; p.P593H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.936G>T; p.Q312H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3977T>C; p.V1326A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4051G>T; p.E1351*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4512C>T; p.F1504F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6250T>G; p.F2084V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6754G>T; p.E2252*; |
urinary_tract; bladder | carcinoma |
c.40A>C; p.K14Q; |
urinary_tract; bladder | carcinoma |
c.4352A>C; p.H1451P; |
breast | carcinoma |
c.1784C>T; p.P595L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1595T>G; p.M532R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5331C>T; p.G1777G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4708A>G; p.K1570E; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5279A>G; p.K1760R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4518T>C; p.G1506G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3416A>G; p.Y1139C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.257G>A; p.R86Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4710A>G; p.K1570K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.257G>A; p.R86Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4708A>G; p.K1570E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3041A>G; p.E1014G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5848A>G; p.R1950G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1521C>T; p.S507S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4356T>C; p.P1452P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.49A>G; p.K17E; |
urinary_tract; bladder | carcinoma |
c.4933C>T; p.R1645*; |
urinary_tract; bladder | carcinoma |
c.5217C>G; p.I1739M; |
urinary_tract; bladder | carcinoma |
c.5364C>G; p.L1788L; |
urinary_tract; bladder | carcinoma |
c.6004C>G; p.Q2002E; |
urinary_tract; bladder | carcinoma |
c.6123C>G; p.L2041L; |
urinary_tract; bladder | carcinoma |
c.6174C>G; p.L2058L; |
urinary_tract; bladder | carcinoma |
c.6643C>A; p.Q2215K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4467_4468insG; p.A1490fs*3; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3117G>A; p.P1039P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1529-2A>G; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2124A>G; p.P708P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3853G>T; p.E1285*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1543G>T; p.G515*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6950G>T; p.R2317L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6969C>T; p.P2323P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3729-2A>T; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3731T>G; p.F1244C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3039A>G; p.E1013E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4795C>T; p.R1599C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1770C>T; p.A590A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1759C>T; p.L587F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2498C>T; p.S833L; |
breast | carcinoma |
c.980C>T; p.A327V; |
breast | carcinoma |
c.3041A>G; p.E1014G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.550C>T; p.Q184*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4227G>C; p.L1409F; |
urinary_tract; bladder | carcinoma |
c.3284G>T; p.S1095I; |
urinary_tract; bladder | carcinoma |
c.4195G>T; p.D1399Y; 22:39895475-39895475 |
urinary_tract; bladder | carcinoma |
c.5039G>A; p.R1680H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4708A>G; p.K1570E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5640C>A; p.P1880P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.942C>T; p.G314G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1501_1502insG; p.Q501fs*12; |
breast | carcinoma |
c.3039A>G; p.E1013E; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6964delC; p.H2324fs*29; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4879C>T; p.R1627W; 22:39902296-39902296 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4195G>A; p.D1399N; |
cervix | carcinoma; squamous_cell_carcinoma |
c.5039G>A; p.R1680H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2482C>T; p.H828Y; |
urinary_tract; bladder | carcinoma |
c.2485C>T; p.Q829*; |
urinary_tract; bladder | carcinoma |
c.2245A>G; p.M749V; |
urinary_tract; bladder | carcinoma |
c.4365G>C; p.Q1455H; |
urinary_tract; bladder | carcinoma |
c.4709A>G; p.K1570R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4949C>T; p.S1650F; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2845G>T; p.G949*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5862C>T; p.H1954H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4795C>T; p.R1599C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6662C>T; p.P2221L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6523A>G; p.M2175V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3934C>T; p.R1312*; 22:39894458-39894458 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6262C>T; p.R2088W; |
prostate | carcinoma; adenocarcinoma |
c.4154G>A; p.C1385Y; |
urinary_tract; bladder | carcinoma |
c.4578G>C; p.E1526D; |
urinary_tract; bladder | carcinoma |
c.1891C>G; p.H631D; |
urinary_tract; bladder | carcinoma |
c.5095delA; p.N1700fs*9; 22:39902756-39902756 |
breast | carcinoma |
c.1099_1100CC>TT; p.P367F; |
skin | malignant_melanoma |
c.2590C>T; p.P864S; |
skin | malignant_melanoma |
c.3233C>T; p.P1078L; |
skin | malignant_melanoma |
c.1551T>A; p.N517K; |
skin; mucosal | malignant_melanoma |
c.4355C>A; p.P1452H; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.?; p.Q974*; |
skin; ear | carcinoma; squamous_cell_carcinoma |
c.6907C>T; p.L2303F; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.7109A>T; p.N2370I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.419C>T; p.T140I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4519G>A; p.D1507N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1608C>T; p.A536A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1138A>G; p.T380A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |