| General information | Literature | Expression | lncRNA |Regulation | Mutation | Homolog | Interaction |
Basic Information | |||
|---|---|---|---|
Gene ID | 51366 | ||
Name | UBR5 | ||
The somatic mutations from COSMIC database | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.5041A>T; p.S1681C; 8:102286534-102286534 |
breast | carcinoma | Substitution - Missense |
c.5302G>C; p.A1768P; 8:102285695-102285695 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2651A>G; p.D884G; 8:102305261-102305261 |
NS | NS | Substitution - Missense |
c.3095C>G; p.A1032G; 8:102300011-102300011 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.2429T>A; p.I810N; 8:102311486-102311486 |
skin | malignant_melanoma | Substitution - Missense |
c.6516G>T; p.Q2172H; 8:102275822-102275822 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4485A>T; p.A1495A; 8:102293709-102293709 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.455G>A; p.R152Q; 8:102347024-102347024 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6516G>T; p.Q2172H; 8:102275822-102275822 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.8333C>T; p.S2778F; 8:102254369-102254369 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5324G>A; p.S1775N; 8:102285673-102285673 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.8176C>T; p.R2726*; 8:102257643-102257643 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Nonsense |
c.3890G>A; p.R1297Q; 8:102295455-102295455 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3890G>A; p.R1297Q; 8:102295455-102295455 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1185G>T; p.W395C; 8:102329313-102329313 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1240G>A; p.A414T; 8:102329176-102329176 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.7279C>G; p.Q2427E; 8:102269060-102269060 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.5756A>C; p.N1919T; 8:102281460-102281460 |
liver | carcinoma | Substitution - Missense |
c.1185G>T; p.W395C; 8:102329313-102329313 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.3895_3896delAG; p.R1299fs*4; 8:102295449-102295450 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.4188+8C>T; p.?; 8:102294974-102294974 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.3773T>C; p.L1258P; 8:102295675-102295675 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7699G>A; p.D2567N; 8:102262058-102262058 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.383T>C; p.L128S; 8:102360074-102360074 |
skin | malignant_melanoma | Substitution - Missense |
c.2254G>T; p.D752Y; 8:102312143-102312143 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4411G>A; p.A1471T; 8:102293783-102293783 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3641T>G; p.V1214G; 8:102296917-102296917 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.8121_8121delT; p.L2708fs*10; 8:102257698-102257698 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Deletion - Frameshift |
c.8187+5G>T; p.E2702fs*13; 8:102257627-102257627 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Unknown |
c.4153C>G; p.H1385D; 8:102295017-102295017 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6201delT; p.F2067fs*19; 8:102278913-102278913 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5290G>A; p.A1764T; 8:102285707-102285707 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.5830T>C; p.L1944L; 8:102281386-102281386 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1401A>T; p.E467D; 8:102327822-102327822 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2473G>T; p.D825Y; 8:102311442-102311442 |
breast | carcinoma | Substitution - Missense |
c.2930G>A; p.R977Q; 8:102304067-102304067 |
liver | carcinoma | Substitution - Missense |
c.2068A>G; p.N690D; 8:102312425-102312425 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.6071G>A; p.R2024Q; 8:102279139-102279139 |
breast | carcinoma | Substitution - Missense |
c.2610T>C; p.A870A; 8:102311305-102311305 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2591C>T; p.A864V; 8:102311324-102311324 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.884G>A; p.R295Q; 8:102345398-102345398 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5395A>G; p.M1799V; 8:102285602-102285602 |
breast | carcinoma | Substitution - Missense |
c.3203-7A>G; p.?; 8:102298978-102298978 |
pancreas | carcinoma | Unknown |
c.3425-3delT; p.?; 8:102297609-102297609 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.3849C>T; p.V1283V; 8:102295496-102295496 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3620G>A; p.C1207Y; 8:102296938-102296938 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.6735T>C; p.D2245D; 8:102272767-102272767 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.412G>T; p.G138*; 8:102347067-102347067 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6504T>C; p.S2168S; 8:102276977-102276977 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.412G>T; p.G138*; 8:102347067-102347067 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2297T>C; p.V766A; 8:102311856-102311856 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5185A>T; p.T1729S; 8:102286390-102286390 |
skin | malignant_melanoma | Substitution - Missense |
c.3060delC; p.I1021fs*1; 8:102300046-102300046 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1157G>A; p.S386N; 8:102329341-102329341 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.8385T>G; p.N2795K; 8:102254317-102254317 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6631-4delT; p.?; 8:102275623-102275623 |
thyroid | carcinoma; medullary_carcinoma | Unknown |
c.6631-4delT; p.?; 8:102275623-102275623 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.6631-7_6631-4delTTTT; p.?; 8:102275623-102275626 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.2689C>A; p.Q897K; 8:102305223-102305223 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.7754C>T; p.A2585V; 8:102262003-102262003 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.280A>G; p.S94G; 8:102360177-102360177 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.4835T>C; p.M1612T; 8:102287555-102287555 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.7197G>T; p.E2399D; 8:102270072-102270072 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.6360_6361insA; p.E2121fs*13; 8:102277120-102277121 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.6360_6361insA; p.E2121fs*13; 8:102277120-102277121 |
oesophagus | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1492C>G; p.P498A; 8:102326653-102326653 |
skin | malignant_melanoma | Substitution - Missense |
c.3316C>T; p.L1106F; 8:102298858-102298858 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6360_6361insA; p.E2121fs*13; 8:102277120-102277121 |
skin | malignant_melanoma | Insertion - Frameshift |
c.5934A>T; p.R1978R; 8:102280461-102280461 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3240T>C; p.D1080D; 8:102298934-102298934 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.5257C>T; p.R1753C; 8:102285740-102285740 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.8328C>G; p.L2776L; 8:102254374-102254374 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.431C>A; p.S144Y; 8:102347048-102347048 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2283G>T; p.K761N; 8:102311870-102311870 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5659C>T; p.R1887*; 8:102285164-102285164 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1152C>T; p.V384V; 8:102329346-102329346 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.5255T>G; p.L1752*; 8:102285742-102285742 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5659C>T; p.R1887*; 8:102285164-102285164 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.5659C>T; p.R1887*; 8:102285164-102285164 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1828C>T; p.P610S; 8:102314810-102314810 |
skin | malignant_melanoma | Substitution - Missense |
c.5788G>A; p.D1930N; 8:102281428-102281428 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4276A>G; p.M1426V; 8:102294028-102294028 |
prostate | carcinoma | Substitution - Missense |
c.1850G>A; p.C617Y; 8:102314788-102314788 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5176G>T; p.A1726S; 8:102286399-102286399 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1238G>A; p.R413Q; 8:102329178-102329178 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4615A>G; p.I1539V; 8:102289551-102289551 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6286G>A; p.E2096K; 8:102278828-102278828 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7984C>T; p.L2662F; 8:102259102-102259102 |
skin; trunk | malignant_melanoma; nodular | Substitution - Missense |
c.3241C>T; p.R1081*; 8:102298933-102298933 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2691A>T; p.Q897H; 8:102305221-102305221 |
lung | carcinoma; undifferentiated_carcinoma | Substitution - Missense |
c.7794G>A; p.M2598I; 8:102261963-102261963 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.8150_8150delT; p.I2717fs*2; 8:102257669-102257669 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Deletion - Frameshift |
c.676C>T; p.R226W; 8:102346296-102346296 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5658G>A; p.A1886A; 8:102285165-102285165 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1927G>C; p.E643Q; 8:102313884-102313884 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1425T>A; p.S475S; 8:102327798-102327798 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1449C>A; p.T483T; 8:102327774-102327774 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5294C>T; p.A1765V; 8:102285703-102285703 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.6682G>A; p.E2228K; 8:102275568-102275568 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.930A>T; p.E310D; 8:102342641-102342641 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6413G>T; p.G2138V; 8:102277068-102277068 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7290C>T; p.L2430L; 8:102269049-102269049 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.610G>T; p.V204F; 8:102346362-102346362 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4028T>A; p.I1343N; 8:102295234-102295234 |
breast | carcinoma | Substitution - Missense |
c.610G>T; p.V204F; 8:102346362-102346362 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.610G>T; p.V204F; 8:102346362-102346362 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5657C>T; p.A1886V; 8:102285166-102285166 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.850C>T; p.R284C; 8:102345432-102345432 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.8219C>T; p.P2740L; 8:102254483-102254483 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.773C>G; p.S258C; 8:102345509-102345509 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.8002G>T; p.E2668*; 8:102259084-102259084 |
breast | carcinoma | Substitution - Nonsense |
c.729G>A; p.L243L; 8:102346243-102346243 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.773C>T; p.S258F; 8:102345509-102345509 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1487T>C; p.V496A; 8:102326658-102326658 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2461C>A; p.P821T; 8:102311454-102311454 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4392C>G; p.F1464L; 8:102293802-102293802 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.2878G>A; p.E960K; 8:102304119-102304119 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.288G>A; p.S96S; 8:102360169-102360169 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2878G>A; p.E960K; 8:102304119-102304119 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6073C>T; p.R2025C; 8:102279137-102279137 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.8171C>T; p.T2724I; 8:102257648-102257648 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1608G>T; p.L536F; 8:102323487-102323487 |
breast | carcinoma | Substitution - Missense |
c.5720G>C; p.R1907P; 8:102281496-102281496 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3038A>C; p.H1013P; 8:102300068-102300068 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4740A>G; p.G1580G; 8:102288240-102288240 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - coding silent |
c.6062C>T; p.P2021L; 8:102279148-102279148 |
skin | malignant_melanoma | Substitution - Missense |
c.1482-8_1482-7insT; p.?; 8:102326670-102326671 |
stomach | adenocarcinoma | Unknown |
c.491G>A; p.G164E; 8:102346988-102346988 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4644C>A; p.I1548I; 8:102289522-102289522 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1980A>T; p.E660D; 8:102313831-102313831 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7709T>G; p.F2570C; 8:102262048-102262048 |
skin | malignant_melanoma | Substitution - Missense |
c.7461A>G; p.V2487V; 8:102265240-102265240 |
liver | carcinoma | Substitution - coding silent |
c.8099C>T; p.S2700L; 8:102258987-102258987 |
skin | malignant_melanoma | Substitution - Missense |
c.3622_3624delTGT; p.C1208delC; 8:102296934-102296936 |
lung | carcinoma; adenocarcinoma | Deletion - In frame |
c.4105G>C; p.V1369L; 8:102295065-102295065 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.8102-9_8106del14; p.E2702fs*13; 8:102257713-102257717 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Deletion - Frameshift |
c.7461A>G; p.V2487V; 8:102265240-102265240 |
liver | carcinoma | Substitution - coding silent |
c.68G>A; p.R23Q; 8:102361621-102361621 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4384C>T; p.R1462C; 8:102293810-102293810 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.1424C>A; p.S475Y; 8:102327799-102327799 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6425A>T; p.H2142L; 8:102277056-102277056 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1116C>T; p.I372I; 8:102329382-102329382 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4047G>A; p.E1349E; 8:102295215-102295215 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6928C>T; p.P2310S; 8:102272574-102272574 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5323A>C; p.S1775R; 8:102285674-102285674 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.8304C>T; p.C2768C; 8:102254398-102254398 |
kidney | other; neoplasm | Substitution - coding silent |
c.3441T>C; p.S1147S; 8:102297590-102297590 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8213C>A; p.S2738*; 8:102254489-102254489 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.4923C>T; p.S1641S; 8:102287467-102287467 |
breast | carcinoma | Substitution - coding silent |
c.8227G>A; p.E2743K; 8:102254475-102254475 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3450G>A; p.E1150E; 8:102297581-102297581 |
breast | carcinoma | Substitution - coding silent |
c.8213C>A; p.S2738*; 8:102254489-102254489 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.6002+9C>A; p.?; 8:102280384-102280384 |
pancreas | carcinoma | Unknown |
c.8101+3A>C; p.?; 8:102258982-102258982 |
pancreas | carcinoma | Unknown |
c.692G>A; p.G231E; 8:102346280-102346280 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.8101+3A>C; p.?; 8:102258982-102258982 |
pancreas | carcinoma | Unknown |
c.8101+3A>C; p.?; 8:102258982-102258982 |
pancreas | carcinoma | Unknown |
c.5004G>T; p.S1668S; 8:102286571-102286571 |
breast | carcinoma | Substitution - coding silent |
c.2667A>T; p.R889R; 8:102305245-102305245 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1260C>T; p.T420T; 8:102329156-102329156 |
skin; arm | malignant_melanoma | Substitution - coding silent |
c.4714-2A>G; p.?; 8:102288268-102288268 |
pancreas | carcinoma; acinar_carcinoma | Unknown |
c.2016A>C; p.K672N; 8:102312477-102312477 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.8316T>C; p.L2772L; 8:102254386-102254386 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7837G>T; p.G2613*; 8:102261920-102261920 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1128T>C; p.A376A; 8:102329370-102329370 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.6567G>A; p.W2189*; 8:102275771-102275771 |
liver | carcinoma | Substitution - Nonsense |
c.6212G>T; p.S2071I; 8:102278902-102278902 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.2704G>C; p.E902Q; 8:102305208-102305208 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6567G>A; p.W2189*; 8:102275771-102275771 |
liver | carcinoma | Substitution - Nonsense |
c.2748T>G; p.C916W; 8:102305164-102305164 |
skin | malignant_melanoma | Substitution - Missense |
c.4242A>T; p.T1414T; 8:102294062-102294062 |
skin | malignant_melanoma | Substitution - coding silent |
c.6310T>C; p.Y2104H; 8:102277171-102277171 |
skin | malignant_melanoma | Substitution - Missense |
c.6359_6360insA; p.E2121fs*13; 8:102277121-102277122 |
pancreas | carcinoma; acinar_carcinoma | Insertion - Frameshift |
c.7735T>C; p.L2579L; 8:102262022-102262022 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3729T>G; p.L1243L; 8:102295719-102295719 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.2972T>C; p.M991T; 8:102300134-102300134 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.8128delT; p.F2710fs*8; 8:102257691-102257691 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Deletion - Frameshift |
c.6069C>T; p.F2023F; 8:102279141-102279141 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - coding silent |
c.8135G>A; p.R2712H; 8:102257684-102257684 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6608A>G; p.D2203G; 8:102275730-102275730 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1848G>A; p.T616T; 8:102314790-102314790 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.466C>T; p.R156W; 8:102347013-102347013 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6997C>T; p.R2333*; 8:102271222-102271222 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.4058C>T; p.P1353L; 8:102295204-102295204 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4058C>T; p.P1353L; 8:102295204-102295204 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5931G>A; p.T1977T; 8:102280464-102280464 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5931G>A; p.T1977T; 8:102280464-102280464 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5560C>T; p.R1854C; 8:102285263-102285263 |
NS | malignant_melanoma | Substitution - Missense |
c.344C>G; p.S115*; 8:102360113-102360113 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2081G>T; p.S694I; 8:102312412-102312412 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2047C>T; p.P683S; 8:102312446-102312446 |
skin | malignant_melanoma | Substitution - Missense |
c.4030A>G; p.M1344V; 8:102295232-102295232 |
liver | carcinoma | Substitution - Missense |
c.572C>T; p.S191L; 8:102346907-102346907 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4876A>G; p.S1626G; 8:102287514-102287514 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7439G>A; p.R2480H; 8:102265262-102265262 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3642T>G; p.V1214V; 8:102296916-102296916 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5303C>T; p.A1768V; 8:102285694-102285694 |
thyroid | carcinoma | Substitution - Missense |
c.7058G>A; p.R2353Q; 8:102271161-102271161 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6618A>T; p.A2206A; 8:102275720-102275720 |
breast | carcinoma | Substitution - coding silent |
c.4325A>G; p.E1442G; 8:102293979-102293979 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6966C>A; p.T2322T; 8:102272536-102272536 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2174C>T; p.P725L; 8:102312223-102312223 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5629A>T; p.N1877Y; 8:102285194-102285194 |
liver | carcinoma | Substitution - Missense |
c.6568C>T; p.R2190C; 8:102275770-102275770 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5337A>G; p.T1779T; 8:102285660-102285660 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3704G>T; p.W1235L; 8:102295744-102295744 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.5831T>C; p.L1944S; 8:102281385-102281385 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.445G>A; p.A149T; 8:102347034-102347034 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5384T>C; p.I1795T; 8:102285613-102285613 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5407C>T; p.P1803S; 8:102285590-102285590 |
skin | malignant_melanoma | Substitution - Missense |
c.3554G>T; p.G1185V; 8:102297477-102297477 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1498A>G; p.S500G; 8:102326647-102326647 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3055C>T; p.P1019S; 8:102300051-102300051 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4741G>T; p.E1581*; 8:102288239-102288239 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1498A>G; p.S500G; 8:102326647-102326647 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.4741G>T; p.E1581*; 8:102288239-102288239 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6145C>T; p.P2049S; 8:102279065-102279065 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6105A>G; p.I2035M; 8:102279105-102279105 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6829G>A; p.V2277I; 8:102272673-102272673 |
breast | carcinoma | Substitution - Missense |
c.5928-2A>G; p.?; 8:102280469-102280469 |
ovary | other; neoplasm | Unknown |
c.6836T>C; p.V2279A; 8:102272666-102272666 |
haematopoietic_and_lymphoid_tissue; pharynx | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.622G>A; p.E208K; 8:102346350-102346350 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.5791G>A; p.E1931K; 8:102281425-102281425 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.7623delA; p.L2541fs*10; 8:102264537-102264537 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.3823C>T; p.L1275F; 8:102295522-102295522 |
skin | malignant_melanoma | Substitution - Missense |
c.2076G>A; p.Q692Q; 8:102312417-102312417 |
breast | carcinoma | Substitution - coding silent |
c.2352T>C; p.F784F; 8:102311801-102311801 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5938C>G; p.L1980V; 8:102280457-102280457 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.5204C>G; p.S1735C; 8:102286371-102286371 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3828A>G; p.L1276L; 8:102295517-102295517 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.8050G>A; p.E2684K; 8:102259036-102259036 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4699G>A; p.A1567T; 8:102289467-102289467 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2765T>G; p.I922S; 8:102305147-102305147 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1521G>T; p.E507D; 8:102326624-102326624 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6461C>T; p.A2154V; 8:102277020-102277020 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.325G>A; p.D109N; 8:102360132-102360132 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5001A>G; p.Q1667Q; 8:102286574-102286574 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.325G>A; p.D109N; 8:102360132-102360132 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6850G>A; p.E2284K; 8:102272652-102272652 |
breast | carcinoma | Substitution - Missense |
c.8187+1G>T; p.E2702fs*13; 8:102257631-102257631 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Unknown |
c.5875A>G; p.K1959E; 8:102281341-102281341 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5795A>C; p.H1932P; 8:102281421-102281421 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.8187+1G>T; p.E2702fs*13; 8:102257631-102257631 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Unknown |
c.8319C>T; p.Y2773Y; 8:102254383-102254383 |
kidney | other; neoplasm | Substitution - coding silent |
c.1847C>T; p.T616M; 8:102314791-102314791 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.4731T>C; p.G1577G; 8:102288249-102288249 |
skin | malignant_melanoma | Substitution - coding silent |
c.497A>G; p.D166G; 8:102346982-102346982 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2112_2113CC>TT; p.(=); 8:102312380-102312381 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.3060_3061insC; p.I1021fs*5; 8:102300045-102300046 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.3813-2A>T; p.?; 8:102295534-102295534 |
urinary_tract; bladder | carcinoma | Unknown |
c.6511C>A; p.P2171T; 8:102275827-102275827 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3813-2A>T; p.?; 8:102295534-102295534 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.7485A>T; p.T2495T; 8:102265216-102265216 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.7477G>T; p.D2493Y; 8:102265224-102265224 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.953G>A; p.R318H; 8:102342618-102342618 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4801C>T; p.Q1601*; 8:102288179-102288179 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5821G>A; p.V1941I; 8:102281395-102281395 |
skin | malignant_melanoma | Substitution - Missense |
c.953G>A; p.R318H; 8:102342618-102342618 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2437C>T; p.R813*; 8:102311478-102311478 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5536A>G; p.M1846V; 8:102285287-102285287 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.120G>C; p.L40F; 8:102361194-102361194 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2903T>C; p.V968A; 8:102304094-102304094 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7477G>C; p.D2493H; 8:102265224-102265224 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4640G>T; p.R1547L; 8:102289526-102289526 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5012C>G; p.S1671*; 8:102286563-102286563 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.8144G>A; p.W2715*; 8:102257675-102257675 |
skin | malignant_melanoma | Substitution - Nonsense |
c.3135C>T; p.P1045P; 8:102299519-102299519 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7264G>A; p.E2422K; 8:102269075-102269075 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.524A>C; p.Q175P; 8:102346955-102346955 |
prostate | carcinoma | Substitution - Missense |
c.500G>A; p.R167Q; 8:102346979-102346979 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.8144G>A; p.W2715*; 8:102257675-102257675 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Nonsense |
c.8102-1G>A; p.?; 8:102257718-102257718 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Unknown |
c.500G>A; p.R167Q; 8:102346979-102346979 |
stomach | adenocarcinoma | Substitution - Missense |
c.8231_8233delAAG; p.E2744delE; 8:102254469-102254471 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - In frame |
c.3466G>A; p.G1156R; 8:102297565-102297565 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2608G>T; p.A870S; 8:102311307-102311307 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2608G>T; p.A870S; 8:102311307-102311307 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2608G>T; p.A870S; 8:102311307-102311307 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.2426C>T; p.P809L; 8:102311489-102311489 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4058+1G>A; p.?; 8:102295203-102295203 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.4958-2A>G; p.?; 8:102286619-102286619 |
prostate | carcinoma; adenocarcinoma | Unknown |
c.743T>G; p.L248R; 8:102345539-102345539 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6793C>T; p.R2265*; 8:102272709-102272709 |
breast | carcinoma | Substitution - Nonsense |
c.6070C>T; p.R2024*; 8:102279140-102279140 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6793C>T; p.R2265*; 8:102272709-102272709 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.7691A>C; p.N2564T; 8:102262066-102262066 |
prostate | carcinoma | Substitution - Missense |
c.1480T>G; p.W494G; 8:102327743-102327743 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1555A>G; p.S519G; 8:102326590-102326590 |
lung | carcinoma; undifferentiated_carcinoma | Substitution - Missense |
c.6951T>A; p.N2317K; 8:102272551-102272551 |
breast | carcinoma | Substitution - Missense |
c.2902G>A; p.V968I; 8:102304095-102304095 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.757G>C; p.D253H; 8:102345525-102345525 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.8347C>A; p.L2783I; 8:102254355-102254355 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2641C>G; p.L881V; 8:102305271-102305271 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7127G>T; p.R2376I; 8:102270142-102270142 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.6863G>A; p.G2288D; 8:102272639-102272639 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.6863G>A; p.G2288D; 8:102272639-102272639 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.8138G>A; p.W2713*; 8:102257681-102257681 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3863T>G; p.V1288G; 8:102295482-102295482 |
breast | carcinoma | Substitution - Missense |
c.3503C>T; p.S1168F; 8:102297528-102297528 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7703T>A; p.F2568Y; 8:102262054-102262054 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.8088C>A; p.F2696L; 8:102258998-102258998 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1049T>C; p.V350A; 8:102342522-102342522 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1215+5T>G; p.?; 8:102329278-102329278 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.1049T>C; p.V350A; 8:102342522-102342522 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4991A>G; p.D1664G; 8:102286584-102286584 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2679G>T; p.M893I; 8:102305233-102305233 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1020G>A; p.E340E; 8:102342551-102342551 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.422G>T; p.G141V; 8:102347057-102347057 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5260C>T; p.R1754W; 8:102285737-102285737 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2302T>A; p.Y768N; 8:102311851-102311851 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2406C>T; p.F802F; 8:102311747-102311747 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.4919G>C; p.R1640T; 8:102287471-102287471 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.999T>C; p.G333G; 8:102342572-102342572 |
skin | malignant_melanoma | Substitution - coding silent |
c.7072A>G; p.R2358G; 8:102271147-102271147 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3838G>A; p.V1280I; 8:102295507-102295507 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.8187+2_8187+3insT; p.E2702fs*13; 8:102257629-102257630 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Unknown |
c.2805T>A; p.N935K; 8:102305107-102305107 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.6379G>T; p.V2127L; 8:102277102-102277102 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6379G>T; p.V2127L; 8:102277102-102277102 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2805T>A; p.N935K; 8:102305107-102305107 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3766T>A; p.Y1256N; 8:102295682-102295682 |
liver | carcinoma | Substitution - Missense |
c.1960C>T; p.R654W; 8:102313851-102313851 |
skin | malignant_melanoma | Substitution - Missense |
c.1960C>T; p.R654W; 8:102313851-102313851 |
breast | carcinoma | Substitution - Missense |
c.2954+2T>C; p.?; 8:102304041-102304041 |
stomach | carcinoma; intestinal_adenocarcinoma | Unknown |
c.402T>C; p.S134S; 8:102347077-102347077 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7208C>T; p.P2403L; 8:102270061-102270061 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.7110C>T; p.I2370I; 8:102270159-102270159 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5122G>A; p.A1708T; 8:102286453-102286453 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.7110C>T; p.I2370I; 8:102270159-102270159 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3065C>G; p.A1022G; 8:102300041-102300041 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.3087C>T; p.D1029D; 8:102300019-102300019 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2985G>A; p.S995S; 8:102300121-102300121 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.304T>C; p.S102P; 8:102360153-102360153 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2717A>G; p.Q906R; 8:102305195-102305195 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.8152_8155delGTAG; p.V2718fs*3; 8:102257664-102257667 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Deletion - Frameshift |
c.1193C>T; p.S398F; 8:102329305-102329305 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6185G>A; p.R2062K; 8:102278929-102278929 |
breast | carcinoma | Substitution - Missense |
c.8207G>A; p.S2736N; 8:102254495-102254495 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1989G>T; p.K663N; 8:102313822-102313822 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2419-1G>A; p.?; 8:102311497-102311497 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.6196C>A; p.L2066I; 8:102278918-102278918 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.7478A>G; p.D2493G; 8:102265223-102265223 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4683G>T; p.Q1561H; 8:102289483-102289483 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7478A>G; p.D2493G; 8:102265223-102265223 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1037A>G; p.K346R; 8:102342534-102342534 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3926C>T; p.P1309L; 8:102295419-102295419 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3983C>T; p.A1328V; 8:102295279-102295279 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.6626G>A; p.G2209E; 8:102275712-102275712 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5908C>T; p.P1970S; 8:102281308-102281308 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.5257C>A; p.R1753S; 8:102285740-102285740 |
liver | carcinoma | Substitution - Missense |
c.6190G>A; p.E2064K; 8:102278924-102278924 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.7839A>G; p.G2613G; 8:102261918-102261918 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4912G>A; p.G1638R; 8:102287478-102287478 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7485A>C; p.T2495T; 8:102265216-102265216 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.871C>T; p.L291L; 8:102345411-102345411 |
skin; trunk | malignant_melanoma; nodular | Substitution - coding silent |
c.7255A>G; p.M2419V; 8:102269084-102269084 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.7255A>G; p.M2419V; 8:102269084-102269084 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2608G>A; p.A870T; 8:102311307-102311307 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.8249C>T; p.P2750L; 8:102254453-102254453 |
skin | malignant_melanoma | Substitution - Missense |
c.8268A>C; p.P2756P; 8:102254434-102254434 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5462A>G; p.Y1821C; 8:102285535-102285535 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2127G>A; p.R709R; 8:102312366-102312366 |
breast | carcinoma | Substitution - coding silent |
c.2174C>A; p.P725Q; 8:102312223-102312223 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6196C>T; p.L2066F; 8:102278918-102278918 |
skin | malignant_melanoma | Substitution - Missense |
c.935A>C; p.E312A; 8:102342636-102342636 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.6196C>T; p.L2066F; 8:102278918-102278918 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.190-2A>T; p.?; 8:102360667-102360667 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.7532G>C; p.R2511T; 8:102265169-102265169 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.8147C>G; p.S2716*; 8:102257672-102257672 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Nonsense |
c.5939T>C; p.L1980P; 8:102280456-102280456 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5939T>C; p.L1980P; 8:102280456-102280456 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1402C>T; p.L468F; 8:102327821-102327821 |
skin | malignant_melanoma | Substitution - Missense |
c.5605A>T; p.N1869Y; 8:102285218-102285218 |
pancreas | carcinoma | Substitution - Missense |
c.4973C>T; p.P1658L; 8:102286602-102286602 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6544C>T; p.H2182Y; 8:102275794-102275794 |
skin | malignant_melanoma | Substitution - Missense |
c.2425C>T; p.P809S; 8:102311490-102311490 |
skin | malignant_melanoma | Substitution - Missense |
c.5934A>G; p.R1978R; 8:102280461-102280461 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.853C>T; p.R285C; 8:102345429-102345429 |
oesophagus | carcinoma | Substitution - Missense |
c.5934A>G; p.R1978R; 8:102280461-102280461 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5992A>G; p.T1998A; 8:102280403-102280403 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1589T>C; p.V530A; 8:102326556-102326556 |
skin | malignant_melanoma | Substitution - Missense |
c.8029C>T; p.L2677F; 8:102259057-102259057 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.6557T>G; p.L2186R; 8:102275781-102275781 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.703_704insG; p.D235fs*2; 8:102346268-102346269 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2638A>C; p.I880L; 8:102305274-102305274 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.3991C>T; p.R1331C; 8:102295271-102295271 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5174G>A; p.R1725Q; 8:102286401-102286401 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1038G>T; p.K346N; 8:102342533-102342533 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1556G>T; p.S519I; 8:102326589-102326589 |
ovary | other; neoplasm | Substitution - Missense |
c.619C>T; p.R207*; 8:102346353-102346353 |
endometrium | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.2557A>C; p.N853H; 8:102311358-102311358 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7379G>A; p.S2460N; 8:102266990-102266990 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6996C>T; p.N2332N; 8:102271223-102271223 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.5932C>T; p.R1978*; 8:102280463-102280463 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2364C>T; p.S788S; 8:102311789-102311789 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.7478A>T; p.D2493V; 8:102265223-102265223 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.5932C>T; p.R1978*; 8:102280463-102280463 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5932C>T; p.R1978*; 8:102280463-102280463 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5932C>T; p.R1978*; 8:102280463-102280463 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.303G>A; p.T101T; 8:102360154-102360154 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1584C>T; p.I528I; 8:102326561-102326561 |
pancreas | carcinoid-endocrine_tumour | Substitution - coding silent |
c.2453C>A; p.T818N; 8:102311462-102311462 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6185G>C; p.R2062T; 8:102278929-102278929 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.8160G>A; p.K2720K; 8:102257659-102257659 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7298C>A; p.A2433E; 8:102269041-102269041 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.5879C>T; p.A1960V; 8:102281337-102281337 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.7232C>G; p.A2411G; 8:102269107-102269107 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.7713_7714insT; p.D2572fs*1; 8:102262043-102262044 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.6736C>T; p.R2246W; 8:102272766-102272766 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3055C>A; p.P1019T; 8:102300051-102300051 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4350C>G; p.N1450K; 8:102293844-102293844 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.7454G>A; p.R2485Q; 8:102265247-102265247 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2230delA; p.T744fs*4; 8:102312167-102312167 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.5478C>T; p.N1826N; 8:102285519-102285519 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3669C>T; p.L1223L; 8:102295779-102295779 |
skin | malignant_melanoma | Substitution - coding silent |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.5143C>T; p.Q1715*; 8:102286432-102286432 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4571C>T; p.S1524L; 8:102293623-102293623 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6360delA; p.E2121fs*28; 8:102277121-102277121 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3213A>G; p.T1071T; 8:102298961-102298961 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7075G>A; p.D2359N; 8:102271144-102271144 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7345A>G; p.I2449V; 8:102268994-102268994 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4691T>C; p.I1564T; 8:102289475-102289475 |
pancreas | other; adenoma | Substitution - Missense |
c.2185G>A; p.D729N; 8:102312212-102312212 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.912C>T; p.D304D; 8:102342659-102342659 |
liver | carcinoma | Substitution - coding silent |
c.556C>T; p.P186S; 8:102346923-102346923 |
skin | malignant_melanoma | Substitution - Missense |
c.7085G>A; p.R2362K; 8:102271134-102271134 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.81G>T; p.E27D; 8:102361608-102361608 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4900G>T; p.D1634Y; 8:102287490-102287490 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3311A>C; p.E1104A; 8:102298863-102298863 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1152C>G; p.V384V; 8:102329346-102329346 |
liver | carcinoma | Substitution - coding silent |
c.2984C>T; p.S995L; 8:102300122-102300122 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3662G>T; p.C1221F; 8:102296896-102296896 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3620G>T; p.C1207F; 8:102296938-102296938 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1152C>G; p.V384V; 8:102329346-102329346 |
liver | carcinoma | Substitution - coding silent |
c.3324C>T; p.A1108A; 8:102298850-102298850 |
skin | malignant_melanoma | Substitution - coding silent |
c.5644G>A; p.E1882K; 8:102285179-102285179 |
breast | carcinoma | Substitution - Missense |
c.1885A>G; p.M629V; 8:102314753-102314753 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6580G>A; p.E2194K; 8:102275758-102275758 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6580G>A; p.E2194K; 8:102275758-102275758 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.7432C>T; p.R2478*; 8:102265269-102265269 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5525T>C; p.M1842T; 8:102285298-102285298 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3911G>A; p.R1304Q; 8:102295434-102295434 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.8187+2_8187+3TA>GT; p.E2702fs*13; 8:102257629-102257630 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Unknown |
c.4514A>G; p.D1505G; 8:102293680-102293680 |
breast | carcinoma | Substitution - Missense |
c.6887A>G; p.Y2296C; 8:102272615-102272615 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7828G>A; p.E2610K; 8:102261929-102261929 |
breast | carcinoma | Substitution - Missense |
c.181C>T; p.L61F; 8:102361133-102361133 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3343A>C; p.T1115P; 8:102298473-102298473 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.112C>A; p.P38T; 8:102361202-102361202 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.391C>T; p.R131C; 8:102347088-102347088 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.980C>T; p.S327L; 8:102342591-102342591 |
skin | malignant_melanoma | Substitution - Missense |
c.1126G>T; p.A376S; 8:102329372-102329372 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1126G>T; p.A376S; 8:102329372-102329372 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.6470G>A; p.G2157E; 8:102277011-102277011 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4916G>C; p.R1639P; 8:102287474-102287474 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.980C>T; p.S327L; 8:102342591-102342591 |
skin | malignant_melanoma | Substitution - Missense |
c.602C>T; p.S201F; 8:102346370-102346370 |
skin | malignant_melanoma | Substitution - Missense |
c.2549C>A; p.S850Y; 8:102311366-102311366 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.980C>T; p.S327L; 8:102342591-102342591 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.717C>T; p.S239S; 8:102346255-102346255 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5319C>T; p.N1773N; 8:102285678-102285678 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6261G>T; p.E2087D; 8:102278853-102278853 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.4739G>T; p.G1580V; 8:102288241-102288241 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4340A>C; p.K1447T; 8:102293964-102293964 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.67C>G; p.R23G; 8:102361622-102361622 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.67C>G; p.R23G; 8:102361622-102361622 |
breast | carcinoma | Substitution - Missense |
c.67C>G; p.R23G; 8:102361622-102361622 |
liver | carcinoma | Substitution - Missense |
c.1376A>T; p.E459V; 8:102327847-102327847 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2694G>T; p.A898A; 8:102305218-102305218 |
breast | carcinoma | Substitution - coding silent |
c.67C>G; p.R23G; 8:102361622-102361622 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1070_1072delGAG; p.G357delG; 8:102342499-102342501 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - In frame |
c.67C>G; p.R23G; 8:102361622-102361622 |
liver | carcinoma | Substitution - Missense |
c.8250C>T; p.P2750P; 8:102254452-102254452 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.347G>T; p.G116V; 8:102360110-102360110 |
liver | carcinoma | Substitution - Missense |
c.6604G>T; p.E2202*; 8:102275734-102275734 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1777G>A; p.E593K; 8:102323318-102323318 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.441A>G; p.S147S; 8:102347038-102347038 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.347G>T; p.G116V; 8:102360110-102360110 |
liver | carcinoma | Substitution - Missense |
c.4811A>G; p.E1604G; 8:102288169-102288169 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.112C>T; p.P38S; 8:102361202-102361202 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.8121T>C; p.L2707L; 8:102257698-102257698 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2866C>G; p.L956V; 8:102304131-102304131 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.7407C>T; p.S2469S; 8:102266962-102266962 |
skin | malignant_melanoma | Substitution - coding silent |
c.8282A>G; p.H2761R; 8:102254420-102254420 |
liver | carcinoma | Substitution - Missense |
c.6359_6360delAA; p.K2120fs*13; 8:102277121-102277122 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5569T>C; p.S1857P; 8:102285254-102285254 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6359_6360delAA; p.K2120fs*13; 8:102277121-102277122 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6359_6360delAA; p.K2120fs*13; 8:102277121-102277122 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.7030A>G; p.R2344G; 8:102271189-102271189 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4795G>T; p.E1599*; 8:102288185-102288185 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2221C>T; p.P741S; 8:102312176-102312176 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1093G>C; p.D365H; 8:102342478-102342478 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3834C>T; p.F1278F; 8:102295511-102295511 |
skin | malignant_melanoma | Substitution - coding silent |
c.1050T>C; p.V350V; 8:102342521-102342521 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8155G>A; p.E2719K; 8:102257664-102257664 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.4990G>A; p.D1664N; 8:102286585-102286585 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.7159C>G; p.P2387A; 8:102270110-102270110 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.8059G>A; p.V2687M; 8:102259027-102259027 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.542C>T; p.P181L; 8:102346937-102346937 |
skin | malignant_melanoma | Substitution - Missense |
c.8155G>A; p.E2719K; 8:102257664-102257664 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1050T>C; p.V350V; 8:102342521-102342521 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5677C>T; p.R1893*; 8:102285146-102285146 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4519A>G; p.M1507V; 8:102293675-102293675 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2831C>T; p.A944V; 8:102304166-102304166 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.7479T>C; p.D2493D; 8:102265222-102265222 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.523C>G; p.Q175E; 8:102346956-102346956 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.4210A>T; p.T1404S; 8:102294094-102294094 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.523C>G; p.Q175E; 8:102346956-102346956 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7479T>C; p.D2493D; 8:102265222-102265222 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.300G>T; p.R100S; 8:102360157-102360157 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1858G>A; p.A620T; 8:102314780-102314780 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2580C>T; p.I860I; 8:102311335-102311335 |
skin | malignant_melanoma | Substitution - coding silent |
c.1311T>C; p.A437A; 8:102329105-102329105 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3626C>T; p.T1209M; 8:102296932-102296932 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6258G>A; p.M2086I; 8:102278856-102278856 |
prostate | carcinoma | Substitution - Missense |
c.6582A>G; p.E2194E; 8:102275756-102275756 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7713delT; p.F2571fs*4; 8:102262044-102262044 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3368G>T; p.G1123V; 8:102298448-102298448 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.7713delT; p.F2571fs*4; 8:102262044-102262044 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.7713delT; p.F2571fs*4; 8:102262044-102262044 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4517C>T; p.A1506V; 8:102293677-102293677 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.916G>A; p.E306K; 8:102342655-102342655 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1858G>T; p.A620S; 8:102314780-102314780 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.8185C>T; p.L2729F; 8:102257634-102257634 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.8185C>T; p.L2729F; 8:102257634-102257634 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2007+1G>A; p.?; 8:102313803-102313803 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.7097G>T; p.R2366I; 8:102270172-102270172 |
breast | carcinoma | Substitution - Missense |
c.5120C>A; p.A1707D; 8:102286455-102286455 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5561G>A; p.R1854H; 8:102285262-102285262 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5561G>A; p.R1854H; 8:102285262-102285262 |
oesophagus | carcinoma | Substitution - Missense |
c.485G>A; p.R162Q; 8:102346994-102346994 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1256T>C; p.L419S; 8:102329160-102329160 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6351G>A; p.R2117R; 8:102277130-102277130 |
prostate | carcinoma | Substitution - coding silent |
c.6351G>A; p.R2117R; 8:102277130-102277130 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.6067T>C; p.F2023L; 8:102279143-102279143 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1238G>T; p.R413L; 8:102329178-102329178 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |