General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 59269 |
Name | HIVEP3 |
Synonymous | human immunodeficiency virus type I enhancer binding protein 3;HIVEP3;human immunodeficiency virus type I enhancer binding protein 3 |
Definition | ZAS family, member 3|kappa-B and V(D)J recombination signal sequences-binding protein|kappa-binding protein 1|transcription factor HIVEP3|zinc finger protein ZAS3 |
Position | 1p34 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
The ratio of the loss-of-function mutations over missense mutations is 0.07. |
The copy number variations for various cancers | Top |
The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
---|---|---|---|
c.1287C>T; p.T429T; 1:41583511-41583511 |
breast | carcinoma | Substitution - coding silent |
c.1879G>A; p.E627K; 1:41582919-41582919 |
breast | carcinoma | Substitution - Missense |
c.2504C>G; p.P835R; 1:41582294-41582294 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4157A>G; p.E1386G; 1:41580641-41580641 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2393C>A; p.S798Y; 1:41582405-41582405 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3564C>T; p.A1188A; 1:41581234-41581234 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3820G>T; p.G1274C; 1:41580978-41580978 |
liver | carcinoma | Substitution - Missense |
c.6706C>T; p.R2236W; 1:41510966-41510966 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3820G>T; p.G1274C; 1:41580978-41580978 |
liver | carcinoma | Substitution - Missense |
c.3820G>T; p.G1274C; 1:41580978-41580978 |
liver | carcinoma | Substitution - Missense |
c.1761G>A; p.L587L; 1:41583037-41583037 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5957C>T; p.S1986L; 1:41513264-41513264 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.141G>A; p.E47E; 1:41584657-41584657 |
skin | malignant_melanoma | Substitution - coding silent |
c.5305C>T; p.L1769L; 1:41524813-41524813 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4846C>T; p.H1616Y; 1:41579952-41579952 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1779C>T; p.I593I; 1:41583019-41583019 |
skin | malignant_melanoma | Substitution - coding silent |
c.1481G>A; p.R494H; 1:41583317-41583317 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.5522C>A; p.A1841D; 1:41513699-41513699 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4846C>T; p.H1616Y; 1:41579952-41579952 |
skin | malignant_melanoma | Substitution - Missense |
c.1638C>T; p.A546A; 1:41583160-41583160 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.781C>A; p.H261N; 1:41584017-41584017 |
liver | carcinoma | Substitution - Missense |
c.3155G>A; p.S1052N; 1:41581643-41581643 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3665C>T; p.S1222F; 1:41581133-41581133 |
skin | malignant_melanoma | Substitution - Missense |
c.781C>A; p.H261N; 1:41584017-41584017 |
liver | carcinoma | Substitution - Missense |
c.5284C>A; p.R1762S; 1:41524834-41524834 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6244C>T; p.R2082W; 1:41512977-41512977 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1450G>A; p.V484M; 1:41583348-41583348 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4687C>T; p.P1563S; 1:41580111-41580111 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5818C>T; p.P1940S; 1:41513403-41513403 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3122G>C; p.R1041T; 1:41581676-41581676 |
breast | carcinoma | Substitution - Missense |
c.2747C>T; p.S916L; 1:41582051-41582051 |
skin | malignant_melanoma | Substitution - Missense |
c.3085G>T; p.V1029L; 1:41581713-41581713 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5818C>T; p.P1940S; 1:41513403-41513403 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6142C>T; p.R2048*; 1:41513079-41513079 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1770G>A; p.Q590Q; 1:41583028-41583028 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.406C>T; p.P136S; 1:41584392-41584392 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.406C>T; p.P136S; 1:41584392-41584392 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.253C>A; p.P85T; 1:41584545-41584545 |
skin | malignant_melanoma | Substitution - Missense |
c.6064G>A; p.G2022S; 1:41513157-41513157 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.207C>A; p.G69G; 1:41584591-41584591 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4965G>C; p.Q1655H; 1:41579833-41579833 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.4650C>T; p.S1550S; 1:41580148-41580148 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2379G>A; p.T793T; 1:41582419-41582419 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5932C>T; p.R1978C; 1:41513289-41513289 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6992G>A; p.R2331H; 1:41510680-41510680 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2312C>T; p.T771M; 1:41582486-41582486 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3088G>A; p.A1030T; 1:41581710-41581710 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.3088G>A; p.A1030T; 1:41581710-41581710 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2600C>G; p.P867R; 1:41582198-41582198 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.5113G>T; p.V1705L; 1:41575638-41575638 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6974C>T; p.A2325V; 1:41510698-41510698 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.6634A>C; p.T2212P; 1:41511038-41511038 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.968G>A; p.R323H; 1:41583830-41583830 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.5319C>T; p.I1773I; 1:41524799-41524799 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.797A>G; p.E266G; 1:41584001-41584001 |
breast | carcinoma | Substitution - Missense |
c.5320C>T; p.R1774C; 1:41524798-41524798 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2572A>G; p.I858V; 1:41582226-41582226 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1998C>A; p.C666*; 1:41582800-41582800 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6843C>T; p.T2281T; 1:41510829-41510829 |
prostate | carcinoma | Substitution - coding silent |
c.2899C>T; p.R967C; 1:41581899-41581899 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2899C>T; p.R967C; 1:41581899-41581899 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2899C>T; p.R967C; 1:41581899-41581899 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.6954G>A; p.P2318P; 1:41510718-41510718 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2686C>T; p.L896F; 1:41582112-41582112 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.4458A>T; p.L1486F; 1:41580340-41580340 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.3926C>T; p.A1309V; 1:41580872-41580872 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.480C>A; p.V160V; 1:41584318-41584318 |
liver | carcinoma | Substitution - coding silent |
c.5210A>G; p.Y1737C; 1:41524908-41524908 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.4458A>T; p.L1486F; 1:41580340-41580340 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.480C>A; p.V160V; 1:41584318-41584318 |
liver | carcinoma | Substitution - coding silent |
c.5736T>C; p.A1912A; 1:41513485-41513485 |
breast | carcinoma | Substitution - coding silent |
c.5736T>C; p.A1912A; 1:41513485-41513485 |
breast | carcinoma | Substitution - coding silent |
c.5736T>C; p.A1912A; 1:41513485-41513485 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2432C>T; p.S811F; 1:41582366-41582366 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1443C>T; p.I481I; 1:41583355-41583355 |
breast | carcinoma | Substitution - coding silent |
c.5736T>C; p.A1912A; 1:41513485-41513485 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1141C>T; p.L381L; 1:41583657-41583657 |
skin | malignant_melanoma | Substitution - coding silent |
c.5736T>C; p.A1912A; 1:41513485-41513485 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.1884T>A; p.L628L; 1:41582914-41582914 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.5440G>A; p.G1814R; 1:41518432-41518432 |
pancreas | carcinoma | Substitution - Missense |
c.2208G>C; p.Q736H; 1:41582590-41582590 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.2170G>A; p.E724K; 1:41582628-41582628 |
skin | malignant_melanoma | Substitution - Missense |
c.1437C>T; p.S479S; 1:41583361-41583361 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2573T>C; p.I858T; 1:41582225-41582225 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2208G>C; p.Q736H; 1:41582590-41582590 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma | Substitution - Missense |
c.1731T>C; p.S577S; 1:41583067-41583067 |
skin | malignant_melanoma | Substitution - coding silent |
c.6343C>T; p.P2115S; 1:41512878-41512878 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1462C>T; p.R488W; 1:41583336-41583336 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1854G>A; p.S618S; 1:41582944-41582944 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4248G>A; p.L1416L; 1:41580550-41580550 |
skin | malignant_melanoma | Substitution - coding silent |
c.5425A>G; p.K1809E; 1:41518447-41518447 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.509A>G; p.Q170R; 1:41584289-41584289 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.6230C>T; p.A2077V; 1:41512991-41512991 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1966G>A; p.D656N; 1:41582832-41582832 |
skin; leg | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.2056G>A; p.E686K; 1:41582742-41582742 |
skin | malignant_melanoma | Substitution - Missense |
c.2160C>A; p.S720R; 1:41582638-41582638 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2332_2333CC>TT; p.P778F; 1:41582465-41582466 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5550G>T; p.L1850L; 1:41513671-41513671 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.276C>T; p.I92I; 1:41584522-41584522 |
skin | malignant_melanoma | Substitution - coding silent |
c.4265C>T; p.S1422L; 1:41580533-41580533 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1226C>T; p.T409I; 1:41583572-41583572 |
skin | malignant_melanoma | Substitution - Missense |
c.6088A>C; p.R2030R; 1:41513133-41513133 |
pancreas | carcinoma | Substitution - coding silent |
c.5396A>C; p.K1799T; 1:41518476-41518476 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.177C>A; p.F59L; 1:41584621-41584621 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.266C>T; p.S89F; 1:41584532-41584532 |
skin | malignant_melanoma | Substitution - Missense |
c.5758G>A; p.E1920K; 1:41513463-41513463 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.120C>T; p.S40S; 1:41584678-41584678 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1390C>T; p.H464Y; 1:41583408-41583408 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5426A>T; p.K1809M; 1:41518446-41518446 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1789T>G; p.L597V; 1:41583009-41583009 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.830C>T; p.T277I; 1:41583968-41583968 |
NS | malignant_melanoma | Substitution - Missense |
c.5481C>T; p.D1827D; 1:41513740-41513740 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1246G>C; p.E416Q; 1:41583552-41583552 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1444G>A; p.D482N; 1:41583354-41583354 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1027G>A; p.E343K; 1:41583771-41583771 |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_III | Substitution - Missense |
c.209C>T; p.S70F; 1:41584589-41584589 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3129C>T; p.C1043C; 1:41581669-41581669 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6410A>C; p.K2137T; 1:41511262-41511262 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.1372C>T; p.R458W; 1:41583426-41583426 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1555G>C; p.E519Q; 1:41583243-41583243 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2155A>T; p.K719*; 1:41582643-41582643 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1845C>T; p.S615S; 1:41582953-41582953 |
skin | malignant_melanoma | Substitution - coding silent |
c.6128G>C; p.R2043T; 1:41513093-41513093 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2966G>A; p.R989Q; 1:41581832-41581832 |
prostate | carcinoma | Substitution - Missense |
c.2725C>T; p.R909C; 1:41582073-41582073 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2961G>A; p.E987E; 1:41581837-41581837 |
skin | malignant_melanoma | Substitution - coding silent |
c.98C>T; p.S33F; 1:41584700-41584700 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.5801A>G; p.Q1934R; 1:41513420-41513420 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.463G>A; p.E155K; 1:41584335-41584335 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1937A>C; p.N646T; 1:41582861-41582861 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4511C>T; p.S1504L; 1:41580287-41580287 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.4665T>G; p.D1555E; 1:41580133-41580133 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5000C>T; p.A1667V; 1:41579798-41579798 |
skin | malignant_melanoma | Substitution - Missense |
c.1381G>T; p.V461L; 1:41583417-41583417 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1218C>T; p.P406P; 1:41583580-41583580 |
skin | malignant_melanoma | Substitution - coding silent |
c.4613C>A; p.S1538Y; 1:41580185-41580185 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.507C>T; p.S169S; 1:41584291-41584291 |
skin | malignant_melanoma | Substitution - coding silent |
c.5251C>T; p.R1751*; 1:41524867-41524867 |
liver | carcinoma | Substitution - Nonsense |
c.2134C>T; p.L712L; 1:41582664-41582664 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1895C>A; p.T632N; 1:41582903-41582903 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.7014G>A; p.P2338P; 1:41510658-41510658 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2334C>A; p.P778P; 1:41582464-41582464 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1487G>T; p.S496I; 1:41583311-41583311 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2278C>T; p.P760S; 1:41582520-41582520 |
ovary | other; neoplasm | Substitution - Missense |
c.776A>G; p.Y259C; 1:41584022-41584022 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1309A>C; p.T437P; 1:41583489-41583489 |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_III | Substitution - Missense |
c.492C>T; p.F164F; 1:41584306-41584306 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6675C>A; p.F2225L; 1:41510997-41510997 |
breast | carcinoma | Substitution - Missense |
c.492C>T; p.F164F; 1:41584306-41584306 |
skin | malignant_melanoma | Substitution - coding silent |
c.712C>T; p.H238Y; 1:41584086-41584086 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1673G>A; p.R558Q; 1:41583125-41583125 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.492C>T; p.F164F; 1:41584306-41584306 |
skin | malignant_melanoma | Substitution - coding silent |
c.5671C>T; p.R1891W; 1:41513550-41513550 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.6759C>T; p.S2253S; 1:41510913-41510913 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5138G>T; p.G1713V; 1:41575613-41575613 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6398C>T; p.S2133F; 1:41512823-41512823 |
skin | malignant_melanoma | Substitution - Missense |
c.2297C>T; p.S766F; 1:41582501-41582501 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2726G>A; p.R909H; 1:41582072-41582072 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2726G>A; p.R909H; 1:41582072-41582072 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6759C>T; p.S2253S; 1:41510913-41510913 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2937C>T; p.P979P; 1:41581861-41581861 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3294C>T; p.P1098P; 1:41581504-41581504 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4553C>T; p.P1518L; 1:41580245-41580245 |
skin | malignant_melanoma | Substitution - Missense |
c.3025C>T; p.R1009C; 1:41581773-41581773 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5174G>T; p.G1725V; 1:41575577-41575577 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3424C>A; p.P1142T; 1:41581374-41581374 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4236A>G; p.S1412S; 1:41580562-41580562 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5874G>C; p.L1958F; 1:41513347-41513347 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6785A>G; p.K2262R; 1:41510887-41510887 |
prostate | carcinoma | Substitution - Missense |
c.295C>T; p.P99S; 1:41584503-41584503 |
skin | malignant_melanoma | Substitution - Missense |
c.1141C>G; p.L381V; 1:41583657-41583657 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.432C>T; p.L144L; 1:41584366-41584366 |
skin | malignant_melanoma | Substitution - coding silent |
c.4039C>A; p.Q1347K; 1:41580759-41580759 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.6705C>T; p.A2235A; 1:41510967-41510967 |
skin | malignant_melanoma | Substitution - coding silent |
c.6578C>T; p.P2193L; 1:41511094-41511094 |
skin | malignant_melanoma | Substitution - Missense |
c.4821C>T; p.C1607C; 1:41579977-41579977 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4360G>T; p.E1454*; 1:41580438-41580438 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.432C>T; p.L144L; 1:41584366-41584366 |
skin | malignant_melanoma | Substitution - coding silent |
c.2623C>T; p.P875S; 1:41582175-41582175 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4671G>A; p.K1557K; 1:41580127-41580127 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.7159G>T; p.G2387*; 1:41510513-41510513 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4975A>G; p.K1659E; 1:41579823-41579823 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7015A>G; p.T2339A; 1:41510657-41510657 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7015A>G; p.T2339A; 1:41510657-41510657 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7015A>G; p.T2339A; 1:41510657-41510657 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7015A>G; p.T2339A; 1:41510657-41510657 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7015A>G; p.T2339A; 1:41510657-41510657 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7015A>G; p.T2339A; 1:41510657-41510657 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2564T>C; p.V855A; 1:41582234-41582234 |
skin | malignant_melanoma | Substitution - Missense |
c.7015A>G; p.T2339A; 1:41510657-41510657 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7015A>G; p.T2339A; 1:41510657-41510657 |
thyroid | other; neoplasm | Substitution - Missense |
c.7015A>G; p.T2339A; 1:41510657-41510657 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7015A>G; p.T2339A; 1:41510657-41510657 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7015A>G; p.T2339A; 1:41510657-41510657 |
thyroid | other; neoplasm | Substitution - Missense |
c.1660delC; p.H554fs*20; 1:41583138-41583138 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.5316C>T; p.H1772H; 1:41524802-41524802 |
liver | carcinoma | Substitution - coding silent |
c.1660delC; p.H554fs*20; 1:41583138-41583138 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.5316C>T; p.H1772H; 1:41524802-41524802 |
liver | carcinoma | Substitution - coding silent |
c.6722G>A; p.R2241Q; 1:41510950-41510950 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5994C>T; p.S1998S; 1:41513227-41513227 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1660delC; p.H554fs*20; 1:41583138-41583138 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1660delC; p.H554fs*20; 1:41583138-41583138 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6303G>A; p.E2101E; 1:41512918-41512918 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3704C>T; p.S1235F; 1:41581094-41581094 |
skin; acral | malignant_melanoma | Substitution - Missense |
c.3710G>A; p.G1237E; 1:41581088-41581088 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6936C>T; p.P2312P; 1:41510736-41510736 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2814C>A; p.V938V; 1:41581984-41581984 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.615C>T; p.S205S; 1:41584183-41584183 |
liver | carcinoma | Substitution - coding silent |
c.5369C>T; p.A1790V; 1:41524749-41524749 |
skin | malignant_melanoma | Substitution - Missense |
c.1137G>A; p.A379A; 1:41583661-41583661 |
skin | malignant_melanoma | Substitution - coding silent |
c.615C>T; p.S205S; 1:41584183-41584183 |
liver | carcinoma | Substitution - coding silent |
c.2704C>T; p.P902S; 1:41582094-41582094 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5933G>A; p.R1978H; 1:41513288-41513288 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1312C>A; p.Q438K; 1:41583486-41583486 |
skin | malignant_melanoma | Substitution - Missense |
c.6212G>A; p.R2071K; 1:41513009-41513009 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6622G>A; p.G2208R; 1:41511050-41511050 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2584G>A; p.E862K; 1:41582214-41582214 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4002G>A; p.M1334I; 1:41580796-41580796 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.371C>T; p.P124L; 1:41584427-41584427 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4002G>A; p.M1334I; 1:41580796-41580796 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2439G>A; p.E813E; 1:41582359-41582359 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.681C>T; p.F227F; 1:41584117-41584117 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5081T>C; p.V1694A; 1:41575670-41575670 |
skin | malignant_melanoma | Substitution - Missense |
c.681C>T; p.F227F; 1:41584117-41584117 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.207C>T; p.G69G; 1:41584591-41584591 |
skin | malignant_melanoma | Substitution - coding silent |
c.287C>A; p.P96Q; 1:41584511-41584511 |
lung; left_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1685C>T; p.S562F; 1:41583113-41583113 |
skin | malignant_melanoma | Substitution - Missense |
c.1531T>C; p.S511P; 1:41583267-41583267 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2409C>T; p.T803T; 1:41582389-41582389 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3248G>A; p.S1083N; 1:41581550-41581550 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3888C>T; p.S1296S; 1:41580910-41580910 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3965G>A; p.R1322H; 1:41580833-41580833 |
skin | malignant_melanoma | Substitution - Missense |
c.53G>A; p.R18Q; 1:41584745-41584745 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2695G>C; p.E899Q; 1:41582103-41582103 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4795C>T; p.H1599Y; 1:41580003-41580003 |
ovary | carcinoma | Substitution - Missense |
c.2695G>C; p.E899Q; 1:41582103-41582103 |
breast | carcinoma | Substitution - Missense |
c.1283G>A; p.R428Q; 1:41583515-41583515 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5640G>T; p.E1880D; 1:41513581-41513581 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3533T>A; p.M1178K; 1:41581265-41581265 |
skin | malignant_melanoma | Substitution - Missense |
c.3132C>T; p.F1044F; 1:41581666-41581666 |
skin | malignant_melanoma | Substitution - coding silent |
c.3830C>T; p.P1277L; 1:41580968-41580968 |
skin | malignant_melanoma | Substitution - Missense |
c.1491G>A; p.M497I; 1:41583307-41583307 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.5084C>T; p.S1695F; 1:41575667-41575667 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1398G>A; p.T466T; 1:41583400-41583400 |
skin | malignant_melanoma | Substitution - coding silent |
c.5084C>T; p.S1695F; 1:41575667-41575667 |
NS | malignant_melanoma | Substitution - Missense |
c.6231C>T; p.A2077A; 1:41512990-41512990 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.259G>A; p.E87K; 1:41584539-41584539 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2742C>A; p.A914A; 1:41582056-41582056 |
stomach | adenocarcinoma | Substitution - coding silent |
c.481C>T; p.P161S; 1:41584317-41584317 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3073G>T; p.A1025S; 1:41581725-41581725 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3291A>T; p.G1097G; 1:41581507-41581507 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.76G>A; p.A26T; 1:41584722-41584722 |
skin | malignant_melanoma | Substitution - Missense |
c.5897G>A; p.R1966K; 1:41513324-41513324 |
skin | malignant_melanoma | Substitution - Missense |
c.1415A>G; p.N472S; 1:41583383-41583383 |
skin | malignant_melanoma | Substitution - Missense |
c.6512G>T; p.R2171L; 1:41511160-41511160 |
stomach | adenocarcinoma | Substitution - Missense |
c.3289G>A; p.G1097R; 1:41581509-41581509 |
liver | carcinoma | Substitution - Missense |
c.667G>T; p.G223C; 1:41584131-41584131 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1696C>T; p.H566Y; 1:41583102-41583102 |
skin | malignant_melanoma | Substitution - Missense |
c.1601delC; p.P534fs*5; 1:41583197-41583197 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4495C>T; p.L1499L; 1:41580303-41580303 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3978T>C; p.N1326N; 1:41580820-41580820 |
thyroid | other; neoplasm | Substitution - coding silent |
c.5713G>C; p.A1905P; 1:41513508-41513508 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5713G>C; p.A1905P; 1:41513508-41513508 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4766C>T; p.S1589L; 1:41580032-41580032 |
skin | malignant_melanoma | Substitution - Missense |
c.4512A>G; p.S1504S; 1:41580286-41580286 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2048C>T; p.P683L; 1:41582750-41582750 |
skin | malignant_melanoma | Substitution - Missense |
c.323G>A; p.G108D; 1:41584475-41584475 |
skin | malignant_melanoma | Substitution - Missense |
c.5713G>C; p.A1905P; 1:41513508-41513508 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4512A>G; p.S1504S; 1:41580286-41580286 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4752A>C; p.Q1584H; 1:41580046-41580046 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5713G>C; p.A1905P; 1:41513508-41513508 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5713G>C; p.A1905P; 1:41513508-41513508 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5713G>C; p.A1905P; 1:41513508-41513508 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1557A>G; p.E519E; 1:41583241-41583241 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1882C>T; p.L628F; 1:41582916-41582916 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3098C>T; p.A1033V; 1:41581700-41581700 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1637C>T; p.A546V; 1:41583161-41583161 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1474T>C; p.S492P; 1:41583324-41583324 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5978C>T; p.S1993F; 1:41513243-41513243 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.1282C>T; p.R428W; 1:41583516-41583516 |
stomach | adenocarcinoma | Substitution - Missense |
c.2365G>C; p.E789Q; 1:41582433-41582433 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4787C>T; p.P1596L; 1:41580011-41580011 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.313A>G; p.M105V; 1:41584485-41584485 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3481G>T; p.E1161*; 1:41581317-41581317 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1423G>A; p.V475M; 1:41583375-41583375 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.6709G>A; p.E2237K; 1:41510963-41510963 |
skin | malignant_melanoma | Substitution - Missense |
c.5482G>A; p.D1828N; 1:41513739-41513739 |
skin | malignant_melanoma | Substitution - Missense |
c.1423G>A; p.V475M; 1:41583375-41583375 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1006G>T; p.E336*; 1:41583792-41583792 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.5982C>G; p.P1994P; 1:41513239-41513239 |
breast | carcinoma | Substitution - coding silent |
c.6128G>A; p.R2043K; 1:41513093-41513093 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3463G>A; p.E1155K; 1:41581335-41581335 |
skin | malignant_melanoma | Substitution - Missense |
c.6683delG; p.G2228fs*5; 1:41510989-41510989 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6683delG; p.G2228fs*5; 1:41510989-41510989 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1048delC; p.L350fs*1; 1:41583750-41583750 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5636C>A; p.S1879*; 1:41513585-41513585 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4218delA; p.G1407fs*10; 1:41580580-41580580 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4909C>T; p.P1637S; 1:41579889-41579889 |
skin | malignant_melanoma | Substitution - Missense |
c.4881C>T; p.Y1627Y; 1:41579917-41579917 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6228G>T; p.Q2076H; 1:41512993-41512993 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1807T>G; p.S603A; 1:41582991-41582991 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.5158C>T; p.P1720S; 1:41575593-41575593 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2968A>G; p.R990G; 1:41581830-41581830 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3269C>T; p.S1090F; 1:41581529-41581529 |
skin | malignant_melanoma | Substitution - Missense |
c.3314G>A; p.G1105E; 1:41581484-41581484 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3295C>T; p.P1099S; 1:41581503-41581503 |
skin | malignant_melanoma | Substitution - Missense |
c.2446A>C; p.S816R; 1:41582352-41582352 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3295C>T; p.P1099S; 1:41581503-41581503 |
skin | malignant_melanoma | Substitution - Missense |
c.1453A>G; p.K485E; 1:41583345-41583345 |
ovary | carcinoma | Substitution - Missense |
c.459C>T; p.P153P; 1:41584339-41584339 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3856C>T; p.R1286W; 1:41580942-41580942 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4603C>T; p.P1535S; 1:41580195-41580195 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4665T>C; p.D1555D; 1:41580133-41580133 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.165C>T; p.A55A; 1:41584633-41584633 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.58C>T; p.R20W; 1:41584740-41584740 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6284G>A; p.G2095D; 1:41512937-41512937 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3258C>T; p.S1086S; 1:41581540-41581540 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.101G>T; p.S34I; 1:41584697-41584697 |
liver | carcinoma | Substitution - Missense |
c.101G>T; p.S34I; 1:41584697-41584697 |
liver | carcinoma | Substitution - Missense |
c.399C>T; p.F133F; 1:41584399-41584399 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5494G>T; p.D1832Y; 1:41513727-41513727 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1169A>T; p.E390V; 1:41583629-41583629 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.5519A>G; p.E1840G; 1:41513702-41513702 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3400C>T; p.H1134Y; 1:41581398-41581398 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1259G>T; p.G420V; 1:41583539-41583539 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5544G>A; p.S1848S; 1:41513677-41513677 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5544G>A; p.S1848S; 1:41513677-41513677 |
ovary | other; neoplasm | Substitution - coding silent |
c.7170G>A; p.E2390E; 1:41510502-41510502 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.667G>A; p.G223S; 1:41584131-41584131 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2677C>G; p.L893V; 1:41582121-41582121 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1958A>C; p.K653T; 1:41582840-41582840 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5599G>C; p.E1867Q; 1:41513622-41513622 |
breast | carcinoma | Substitution - Missense |
c.5408C>T; p.S1803L; 1:41518464-41518464 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5245C>T; p.R1749C; 1:41524873-41524873 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6074C>T; p.P2025L; 1:41513147-41513147 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.3687G>A; p.P1229P; 1:41581111-41581111 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2904C>G; p.P968P; 1:41581894-41581894 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2820G>T; p.L940F; 1:41581978-41581978 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1077G>A; p.T359T; 1:41583721-41583721 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4598A>G; p.E1533G; 1:41580200-41580200 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3149C>T; p.S1050F; 1:41581649-41581649 |
breast | carcinoma | Substitution - Missense |
c.3534G>A; p.M1178I; 1:41581264-41581264 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.5022G>T; p.R1674S; 1:41579776-41579776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5714C>T; p.A1905V; 1:41513507-41513507 |
skin | malignant_melanoma | Substitution - Missense |
c.1257T>C; p.F419F; 1:41583541-41583541 |
skin | malignant_melanoma | Substitution - coding silent |
c.2766C>T; p.F922F; 1:41582032-41582032 |
skin | malignant_melanoma | Substitution - coding silent |
c.4756G>A; p.G1586S; 1:41580042-41580042 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1517G>A; p.R506Q; 1:41583281-41583281 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1754G>A; p.R585Q; 1:41583044-41583044 |
breast | carcinoma | Substitution - Missense |
c.5040C>T; p.S1680S; 1:41579758-41579758 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.402G>A; p.V134V; 1:41584396-41584396 |
skin | malignant_melanoma | Substitution - coding silent |
c.5040C>T; p.S1680S; 1:41579758-41579758 |
skin | malignant_melanoma | Substitution - coding silent |
c.6802G>C; p.E2268Q; 1:41510870-41510870 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6350C>T; p.A2117V; 1:41512871-41512871 |
pancreas | carcinoma | Substitution - Missense |
c.5232A>T; p.V1744V; 1:41524886-41524886 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5144C>T; p.P1715L; 1:41575607-41575607 |
stomach | adenocarcinoma | Substitution - Missense |
c.3132delC; p.L1045fs*2; 1:41581666-41581666 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.2432C>A; p.S811Y; 1:41582366-41582366 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2097G>T; p.M699I; 1:41582701-41582701 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2432C>A; p.S811Y; 1:41582366-41582366 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1007A>G; p.E336G; 1:41583791-41583791 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1821C>T; p.G607G; 1:41582977-41582977 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5184G>A; p.A1728A; 1:41575567-41575567 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5180C>T; p.P1727L; 1:41575571-41575571 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4545C>T; p.L1515L; 1:41580253-41580253 |
bone; tibia | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1373G>A; p.R458Q; 1:41583425-41583425 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7210_7211CC>TT; p.P2404F; 1:41510461-41510462 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6299G>T; p.G2100V; 1:41512922-41512922 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3547C>T; p.P1183S; 1:41581251-41581251 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6303G>C; p.E2101D; 1:41512918-41512918 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3335G>C; p.G1112A; 1:41581463-41581463 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4098G>A; p.T1366T; 1:41580700-41580700 |
skin | malignant_melanoma | Substitution - coding silent |
c.1270C>T; p.R424*; 1:41583528-41583528 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.6592G>A; p.G2198S; 1:41511080-41511080 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1270C>T; p.R424*; 1:41583528-41583528 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1270C>T; p.R424*; 1:41583528-41583528 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5656C>T; p.P1886S; 1:41513565-41513565 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1270C>T; p.R424*; 1:41583528-41583528 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.5223A>G; p.E1741E; 1:41524895-41524895 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.5284C>T; p.R1762C; 1:41524834-41524834 |
skin | malignant_melanoma | Substitution - Missense |
c.5449G>A; p.E1817K; 1:41518423-41518423 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.6700G>T; p.G2234W; 1:41510972-41510972 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5284C>T; p.R1762C; 1:41524834-41524834 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5449G>A; p.E1817K; 1:41518423-41518423 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1974C>G; p.Y658*; 1:41582824-41582824 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2122G>A; p.E708K; 1:41582676-41582676 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3902C>T; p.S1301L; 1:41580896-41580896 |
skin | malignant_melanoma | Substitution - Missense |
c.5207G>C; p.G1736A; 1:41575544-41575544 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5321G>T; p.R1774L; 1:41524797-41524797 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2313G>A; p.T771T; 1:41582485-41582485 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2313G>A; p.T771T; 1:41582485-41582485 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.3454G>A; p.V1152M; 1:41581344-41581344 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6688A>G; p.S2230G; 1:41510984-41510984 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5604G>A; p.E1868E; 1:41513617-41513617 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4346G>T; p.R1449I; 1:41580452-41580452 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3465G>C; p.E1155D; 1:41581333-41581333 |
ovary | other; neoplasm | Substitution - Missense |
c.600C>A; p.P200P; 1:41584198-41584198 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5910C>T; p.S1970S; 1:41513311-41513311 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2788C>T; p.R930C; 1:41582010-41582010 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2603A>G; p.D868G; 1:41582195-41582195 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.453C>G; p.I151M; 1:41584345-41584345 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.4949T>C; p.L1650P; 1:41579849-41579849 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2009A>G; p.Q670R; 1:41582789-41582789 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5048C>A; p.P1683H; 1:41579750-41579750 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3346C>T; p.P1116S; 1:41581452-41581452 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5682C>T; p.S1894S; 1:41513539-41513539 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5196C>A; p.I1732I; 1:41575555-41575555 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1125C>T; p.I375I; 1:41583673-41583673 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.476G>A; p.G159E; 1:41584322-41584322 |
skin | malignant_melanoma | Substitution - Missense |
c.1125C>T; p.I375I; 1:41583673-41583673 |
skin | malignant_melanoma | Substitution - coding silent |
c.2479C>A; p.Q827K; 1:41582319-41582319 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6588C>G; p.P2196P; 1:41511084-41511084 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.2902C>T; p.P968S; 1:41581896-41581896 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4498T>C; p.S1500P; 1:41580300-41580300 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.240C>T; p.P80P; 1:41584558-41584558 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5766G>A; p.E1922E; 1:41513455-41513455 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2050G>T; p.E684*; 1:41582748-41582748 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1247A>G; p.E416G; 1:41583551-41583551 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5220C>T; p.N1740N; 1:41524898-41524898 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1063G>C; p.E355Q; 1:41583735-41583735 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5220C>T; p.N1740N; 1:41524898-41524898 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1639G>A; p.A547T; 1:41583159-41583159 |
bone; tibia | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2911C>T; p.L971L; 1:41581887-41581887 |
skin | malignant_melanoma | Substitution - coding silent |
c.5920G>A; p.E1974K; 1:41513301-41513301 |
skin | malignant_melanoma | Substitution - Missense |
c.3628C>T; p.P1210S; 1:41581170-41581170 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2017A>G; p.K673E; 1:41582781-41582781 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2957G>T; p.R986L; 1:41581841-41581841 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2946C>A; p.H982Q; 1:41581852-41581852 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5752G>C; p.V1918L; 1:41513469-41513469 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1600C>A; p.P534T; 1:41583198-41583198 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1329G>C; p.L443L; 1:41583469-41583469 |
thyroid | other; neoplasm | Substitution - coding silent |
c.121G>A; p.G41S; 1:41584677-41584677 |
prostate | carcinoma | Substitution - Missense |
c.2872G>A; p.E958K; 1:41581926-41581926 |
prostate | carcinoma | Substitution - Missense |
c.5224G>T; p.E1742*; 1:41524894-41524894 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.6949C>T; p.R2317W; 1:41510723-41510723 |
pancreas | carcinoma | Substitution - Missense |
c.6465C>T; p.S2155S; 1:41511207-41511207 |
skin | malignant_melanoma | Substitution - coding silent |
c.7107G>A; p.T2369T; 1:41510565-41510565 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2268A>T; p.S756S; 1:41582530-41582530 |
thyroid | other; neoplasm | Substitution - coding silent |
c.4080A>G; p.E1360E; 1:41580718-41580718 |
stomach | adenocarcinoma | Substitution - coding silent |
c.2910_2911CC>TT; p.(=); 1:41581887-41581888 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.3110C>T; p.P1037L; 1:41581688-41581688 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1169A>C; p.E390A; 1:41583629-41583629 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3951G>T; p.L1317L; 1:41580847-41580847 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.964G>A; p.E322K; 1:41583834-41583834 |
breast | carcinoma | Substitution - Missense |
c.1532C>T; p.S511F; 1:41583266-41583266 |
skin | malignant_melanoma | Substitution - Missense |
c.3951G>T; p.L1317L; 1:41580847-41580847 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.103G>A; p.V35I; 1:41584695-41584695 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3681A>G; p.P1227P; 1:41581117-41581117 |
liver | carcinoma | Substitution - coding silent |
c.7072C>T; p.L2358L; 1:41510600-41510600 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.103G>A; p.V35I; 1:41584695-41584695 |
thyroid | other; neoplasm | Substitution - Missense |
c.103G>A; p.V35I; 1:41584695-41584695 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.103G>A; p.V35I; 1:41584695-41584695 |
thyroid | other; neoplasm | Substitution - Missense |
c.2145G>A; p.R715R; 1:41582653-41582653 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.5285G>A; p.R1762H; 1:41524833-41524833 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.3654G>A; p.R1218R; 1:41581144-41581144 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1047C>T; p.P349P; 1:41583751-41583751 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2145G>A; p.R715R; 1:41582653-41582653 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.4510T>C; p.S1504P; 1:41580288-41580288 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1724A>G; p.H575R; 1:41583074-41583074 |
thyroid | other; neoplasm | Substitution - Missense |
c.318G>A; p.S106S; 1:41584480-41584480 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1289C>T; p.A430V; 1:41583509-41583509 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.462delC; p.E155fs*19; 1:41584336-41584336 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2834G>A; p.R945H; 1:41581964-41581964 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.4832A>G; p.Y1611C; 1:41579966-41579966 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1704C>T; p.T568T; 1:41583094-41583094 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1230C>T; p.N410N; 1:41583568-41583568 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.22A>C; p.K8Q; 1:41584776-41584776 |
bone; femur | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.7165G>A; p.G2389R; 1:41510507-41510507 |
breast | carcinoma | Substitution - Missense |
c.457C>T; p.P153S; 1:41584341-41584341 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1727G>A; p.S576N; 1:41583071-41583071 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1231G>A; p.A411T; 1:41583567-41583567 |
kidney | other; neoplasm | Substitution - Missense |
c.1231G>A; p.A411T; 1:41583567-41583567 |
breast | carcinoma | Substitution - Missense |
c.396C>T; p.S132S; 1:41584402-41584402 |
skin | malignant_melanoma | Substitution - coding silent |
c.1706A>G; p.D569G; 1:41583092-41583092 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.396C>T; p.S132S; 1:41584402-41584402 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.6686G>A; p.G2229D; 1:41510986-41510986 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1376C>T; p.T459M; 1:41583422-41583422 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.3119G>C; p.R1040T; 1:41581679-41581679 |
breast | carcinoma | Substitution - Missense |
c.1810G>A; p.E604K; 1:41582988-41582988 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1126G>A; p.D376N; 1:41583672-41583672 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4040A>G; p.Q1347R; 1:41580758-41580758 |
meninges | meningioma; secretory | Substitution - Missense |
c.5670G>T; p.L1890L; 1:41513551-41513551 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1586C>T; p.P529L; 1:41583212-41583212 |
skin; acral | malignant_melanoma | Substitution - Missense |
c.5248G>A; p.G1750S; 1:41524870-41524870 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.6889G>T; p.G2297W; 1:41510783-41510783 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1151G>A; p.G384D; 1:41583647-41583647 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3115G>C; p.E1039Q; 1:41581683-41581683 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1012C>T; p.P338S; 1:41583786-41583786 |
skin | malignant_melanoma | Substitution - Missense |
c.666C>T; p.C222C; 1:41584132-41584132 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.666C>T; p.C222C; 1:41584132-41584132 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4310G>T; p.S1437I; 1:41580488-41580488 |
breast | carcinoma | Substitution - Missense |
c.1012C>T; p.P338S; 1:41583786-41583786 |
skin | malignant_melanoma | Substitution - Missense |
c.4704G>A; p.P1568P; 1:41580094-41580094 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5246G>A; p.R1749H; 1:41524872-41524872 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5246G>A; p.R1749H; 1:41524872-41524872 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2239C>T; p.R747W; 1:41582559-41582559 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2213G>A; p.G738D; 1:41582585-41582585 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.4190G>C; p.R1397T; 1:41580608-41580608 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2885C>T; p.P962L; 1:41581913-41581913 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.71G>A; p.G24E; 1:41584727-41584727 |
skin | malignant_melanoma | Substitution - Missense |
c.84G>T; p.Q28H; 1:41584714-41584714 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 1:41584139-41584139 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1948G>A; p.A650T; 1:41582850-41582850 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7215C>T; p.N2405N; 1:41510457-41510457 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.539A>C; p.H180P; 1:41584259-41584259 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6387G>C; p.E2129D; 1:41512834-41512834 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.974C>T; p.S325F; 1:41583824-41583824 |
skin | malignant_melanoma | Substitution - Missense |
c.769G>A; p.E257K; 1:41584029-41584029 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1005C>T; p.L335L; 1:41583793-41583793 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.6749C>T; p.S2250L; 1:41510923-41510923 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3570G>A; p.P1190P; 1:41581228-41581228 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1802A>G; p.Y601C; 1:41582996-41582996 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5221G>A; p.E1741K; 1:41524897-41524897 |
skin | malignant_melanoma | Substitution - Missense |
c.5991C>T; p.C1997C; 1:41513230-41513230 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1601_1602insC; p.V535fs*26; 1:41583196-41583197 |
liver | carcinoma; hepatocellular_carcinoma | Insertion - Frameshift |
c.1601_1602insC; p.V535fs*26; 1:41583196-41583197 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.6615C>T; p.A2205A; 1:41511057-41511057 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.6210G>A; p.R2070R; 1:41513011-41513011 |
skin | malignant_melanoma | Substitution - coding silent |
c.5718C>T; p.P1906P; 1:41513503-41513503 |
thyroid | carcinoma | Substitution - coding silent |
c.1601_1602insC; p.V535fs*26; 1:41583196-41583197 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1601_1602insC; p.V535fs*26; 1:41583196-41583197 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.3646C>T; p.P1216S; 1:41581152-41581152 |
skin | malignant_melanoma | Substitution - Missense |
c.5039C>T; p.S1680F; 1:41579759-41579759 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.591C>T; p.C197C; 1:41584207-41584207 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6512G>A; p.R2171Q; 1:41511160-41511160 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.5648delC; p.P1883fs*42; 1:41513573-41513573 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2665C>T; p.R889C; 1:41582133-41582133 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2665C>T; p.R889C; 1:41582133-41582133 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1296G>A; p.L432L; 1:41583502-41583502 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.5393C>A; p.T1798N; 1:41518479-41518479 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5648delC; p.P1883fs*42; 1:41513573-41513573 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.3194delG; p.G1065fs*319; 1:41581604-41581604 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.1089G>T; p.K363N; 1:41583709-41583709 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.701A>T; p.N234I; 1:41584097-41584097 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1835A>G; p.D612G; 1:41582963-41582963 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3619C>T; p.Q1207*; 1:41581179-41581179 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2494C>T; p.P832S; 1:41582304-41582304 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3227C>T; p.S1076F; 1:41581571-41581571 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3626T>A; p.M1209K; 1:41581172-41581172 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.52C>T; p.R18W; 1:41584746-41584746 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5995C>T; p.P1999S; 1:41513226-41513226 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2734G>C; p.E912Q; 1:41582064-41582064 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3626T>A; p.M1209K; 1:41581172-41581172 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.1728C>T; p.S576S; 1:41583070-41583070 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3326C>T; p.P1109L; 1:41581472-41581472 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.4542C>T; p.P1514P; 1:41580256-41580256 |
skin | malignant_melanoma | Substitution - coding silent |
c.5199C>T; p.F1733F; 1:41575552-41575552 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1593C>T; p.T531T; 1:41583205-41583205 |
central_nervous_system; brain | glioma | Substitution - coding silent |