General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 8289 |
Name | ARID1A |
Synonymous | AT rich interactive domain 1A (SWI-like);ARID1A;AT rich interactive domain 1A (SWI-like) |
Definition | ARID domain-containing protein 1A|AT-rich interactive domain-containing protein 1A|BRG1-associated factor 250a|OSA1 nuclear protein|SWI-like protein|SWI/SNF complex protein p270|SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin su |
Position | 1p35.3 |
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 0.69. |
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.2014G>T; p.E672*; 1:26760949-26760949 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.6416C>A; p.P2139H; 1:26780314-26780314 |
skin | malignant_melanoma | Substitution - Missense |
c.5518_5518delG; p.G1840fs*43; 1:26779416-26779416 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.6316C>A; p.L2106M; 1:26780214-26780214 |
skin; abdomen | malignant_melanoma | Substitution - Missense |
c.6693_6705delGCGGCGGGCTGCC; p.M2231fs*32; 1:26780591-26780603 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.6416C>A; p.P2139H; 1:26780314-26780314 |
skin | malignant_melanoma | Substitution - Missense |
c.5425T>C; p.F1809L; 1:26779323-26779323 |
skin; ear | malignant_melanoma | Substitution - Missense |
c.5849G>A; p.R1950Q; 1:26779747-26779747 |
prostate | carcinoma | Substitution - Missense |
c.3472G>A; p.G1158R; 1:26772565-26772565 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2060C>A; p.P687H; 1:26760995-26760995 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.526C>T; p.Q176*; 1:26696929-26696929 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6043A>T; p.I2015F; 1:26779941-26779941 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5994C>T; p.D1998D; 1:26779892-26779892 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4532G>A; p.R1511K; 1:26774759-26774759 |
breast | carcinoma | Substitution - Missense |
c.3991C>T; p.Q1331*; 1:26773704-26773704 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2402delG; p.G801fs*32; 1:26762302-26762302 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.2402delG; p.G801fs*32; 1:26762302-26762302 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.3399C>A; p.P1133P; 1:26771319-26771319 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2402delG; p.G801fs*32; 1:26762302-26762302 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2077C>T; p.R693*; 1:26761012-26761012 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.6472C>A; p.R2158R; 1:26780370-26780370 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6472C>A; p.R2158R; 1:26780370-26780370 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2077C>T; p.R693*; 1:26761012-26761012 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.6210G>T; p.Q2070H; 1:26780108-26780108 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3229_3230insG; p.A1077fs*28; 1:26771149-26771150 |
autonomic_ganglia | neuroblastoma | Insertion - Frameshift |
c.1901C>G; p.S634*; 1:26732773-26732773 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.2077C>T; p.R693*; 1:26761012-26761012 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2077C>T; p.R693*; 1:26761012-26761012 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.4096C>T; p.Q1366*; 1:26773893-26773893 |
endometrium | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.3677A>G; p.Y1226C; 1:26772949-26772949 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.6472C>A; p.R2158R; 1:26780370-26780370 |
skin | malignant_melanoma | Substitution - coding silent |
c.2077C>T; p.R693*; 1:26761012-26761012 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.6277G>T; p.V2093F; 1:26780175-26780175 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2077C>T; p.R693*; 1:26761012-26761012 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2077C>T; p.R693*; 1:26761012-26761012 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6472C>A; p.R2158R; 1:26780370-26780370 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.2077C>T; p.R693*; 1:26761012-26761012 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2133A>T; p.S711S; 1:26761068-26761068 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2773G>T; p.G925*; 1:26766261-26766261 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5216C>G; p.P1739R; 1:26779114-26779114 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.3740_3741CC>TT; p.S1247F; 1:26773370-26773371 |
skin | malignant_melanoma | Substitution - Missense |
c.1987A>T; p.T663S; 1:26760922-26760922 |
thyroid | other; neoplasm | Substitution - Missense |
c.4523A>G; p.Y1508C; 1:26774750-26774750 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.3177_3178delGG; p.E1060fs*44; 1:26767978-26767979 |
breast | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.5589_5590delAG; p.E1864fs*36; 1:26779487-26779488 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.4336C>T; p.R1446*; 1:26774563-26774563 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4270C>T; p.Q1424*; 1:26774497-26774497 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4270C>T; p.Q1424*; 1:26774497-26774497 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.3978_3980delGCA; p.Q1334delQ; 1:26773691-26773693 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - In frame |
c.4336C>T; p.R1446*; 1:26774563-26774563 |
stomach | adenocarcinoma | Substitution - Nonsense |
c.4336C>T; p.R1446*; 1:26774563-26774563 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.3325C>T; p.R1109W; 1:26771245-26771245 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3978_3980delGCA; p.Q1334delQ; 1:26773691-26773693 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.4336C>T; p.R1446*; 1:26774563-26774563 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3978_3980delGCA; p.Q1334delQ; 1:26773691-26773693 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - In frame |
c.3860G>C; p.R1287T; 1:26773490-26773490 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4336C>T; p.R1446*; 1:26774563-26774563 |
stomach | adenocarcinoma | Substitution - Nonsense |
c.6806C>A; p.S2269*; 1:26780704-26780704 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Nonsense |
c.4336C>T; p.R1446*; 1:26774563-26774563 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.6806C>A; p.S2269*; 1:26780704-26780704 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5975C>T; p.S1992L; 1:26779873-26779873 |
liver | carcinoma | Substitution - Missense |
c.5272_5288del17; p.P1758fs*9; 1:26779170-26779186 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3978_3980delGCA; p.Q1334delQ; 1:26773691-26773693 |
stomach | adenocarcinoma | Deletion - In frame |
c.4336C>T; p.R1446*; 1:26774563-26774563 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.4336C>T; p.R1446*; 1:26774563-26774563 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4336C>T; p.R1446*; 1:26774563-26774563 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.4336C>T; p.R1446*; 1:26774563-26774563 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4336C>T; p.R1446*; 1:26774563-26774563 |
pancreas | carcinoma | Substitution - Nonsense |
c.3978_3980delGCA; p.Q1334delQ; 1:26773691-26773693 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.6704delC; p.R2236fs*31; 1:26780602-26780602 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.4336C>T; p.R1446*; 1:26774563-26774563 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3978_3980delGCA; p.Q1334delQ; 1:26773691-26773693 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - In frame |
c.4270C>T; p.Q1424*; 1:26774497-26774497 |
breast | carcinoma | Substitution - Nonsense |
c.4270C>T; p.Q1424*; 1:26774497-26774497 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3299T>G; p.L1100R; 1:26771219-26771219 |
liver | carcinoma | Substitution - Missense |
c.5975C>T; p.S1992L; 1:26779873-26779873 |
liver | carcinoma | Substitution - Missense |
c.3299T>G; p.L1100R; 1:26771219-26771219 |
liver | carcinoma | Substitution - Missense |
c.3978_3980delGCA; p.Q1334delQ; 1:26773691-26773693 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.3223_3223delG; p.E1075fs*18; 1:26771143-26771143 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.4550_4551insC; p.Q1519fs*13; 1:26774777-26774778 |
stomach | carcinoma; diffuse_adenocarcinoma | Insertion - Frameshift |
c.1900T>G; p.S634A; 1:26732772-26732772 |
pancreas | carcinoma | Substitution - Missense |
c.6001_6002insCA; p.M2001fs*15; 1:26779899-26779900 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.3818_3843>G; p.M1273fs; 1:26773448-26773473 |
liver | carcinoma; hepatocellular_carcinoma | Complex |
c.4684delC; p.M1564fs*1; 1:26774911-26774911 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5991T>C; p.N1997N; 1:26779889-26779889 |
kidney | other; neoplasm | Substitution - coding silent |
c.6828_6829delTG; p.C2276fs*1; 1:26780726-26780727 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.4984delA; p.D1663fs*10; 1:26775211-26775211 |
liver | carcinoma | Deletion - Frameshift |
c.5635C>A; p.R1879R; 1:26779533-26779533 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.6708C>T; p.R2236R; 1:26780606-26780606 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2352_2353insG; p.M785fs*32; 1:26762252-26762253 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.1841C>T; p.S614L; 1:26732713-26732713 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.5431delA; p.K1811fs*4; 1:26779329-26779329 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.3819G>A; p.M1273I; 1:26773449-26773449 |
breast | carcinoma | Substitution - Missense |
c.5974T>C; p.S1992P; 1:26779872-26779872 |
breast | carcinoma | Substitution - Missense |
c.4348G>A; p.G1450S; 1:26774575-26774575 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.2332G>A; p.G778R; 1:26762232-26762232 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6718_6719insG; p.A2240fs*38; 1:26780616-26780617 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.1240G>A; p.G414R; 1:26729753-26729753 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6266T>C; p.L2089P; 1:26780164-26780164 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1108delG; p.Q372fs*19; 1:26697511-26697511 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3344_3344delC; p.P1115fs*46; 1:26771264-26771264 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.854_854delG; p.G285fs*78; 1:26697257-26697257 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4062delC; p.S1356fs*125; 1:26773859-26773859 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1712C>T; p.S571L; 1:26731513-26731513 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.3645G>A; p.M1215I; 1:26772917-26772917 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.2023_2032del10; p.N675fs*64; 1:26760958-26760967 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.1776_1776delT; p.S593fs*26; 1:26731577-26731577 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.322_328delGGCCCTA; p.R110fs*2; 1:26696725-26696731 |
haematopoietic_and_lymphoid_tissue; abdomen | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Deletion - Frameshift |
c.3731C>A; p.P1244H; 1:26773361-26773361 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3068G>T; p.W1023L; 1:26767869-26767869 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5987G>A; p.G1996D; 1:26779885-26779885 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4997_4997delC; p.P1667fs*6; 1:26775580-26775580 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.1993_1994delGG; p.G665fs*10; 1:26760928-26760929 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.3385A>G; p.K1129E; 1:26771305-26771305 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3216_3216delA; p.K1072fs*21; 1:26771136-26771136 |
ovary | low_malignant_potential_(borderline)_tumour; mucinous | Deletion - Frameshift |
c.4760_4772delGCCCTGCTCCCCT; p.A1589fs*19; 1:26774987-26774999 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.3668G>A; p.R1223H; 1:26772940-26772940 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6545_6564del20; p.A2182fs*36; 1:26780443-26780462 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.1185T>C; p.Y395Y; 1:26729698-26729698 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1476G>T; p.Q492H; 1:26731277-26731277 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.3659_3684del26; p.M1220fs*2; 1:26772931-26772956 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.2094C>T; p.S698S; 1:26761029-26761029 |
skin | malignant_melanoma | Substitution - coding silent |
c.4971G>T; p.R1657S; 1:26775198-26775198 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4086T>G; p.Y1362*; 1:26773883-26773883 |
pancreas | carcinoma | Substitution - Nonsense |
c.1996_2000delATTTC; p.I666fs*8; 1:26760931-26760935 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.2659C>T; p.P887S; 1:26763212-26763212 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2094C>T; p.S698S; 1:26761029-26761029 |
skin | malignant_melanoma | Substitution - coding silent |
c.3715G>A; p.A1239T; 1:26772987-26772987 |
breast | carcinoma | Substitution - Missense |
c.1805A>G; p.E602G; 1:26732677-26732677 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1805A>G; p.E602G; 1:26732677-26732677 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1226C>A; p.S409*; 1:26729739-26729739 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1805A>G; p.E602G; 1:26732677-26732677 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1921-2A>G; p.?; 1:26760854-26760854 |
pancreas | carcinoma | Unknown |
c.6446_6447insA; p.S2149fs*9; 1:26780344-26780345 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.606_607delTC; p.H203fs*196; 1:26697380-26697381 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Deletion - Frameshift |
c.275_291del17; p.G92fs*13; 1:26696678-26696694 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.4372C>T; p.Q1458*; 1:26774599-26774599 |
skin; neck | malignant_melanoma | Substitution - Nonsense |
c.4761_4762insC; p.A1589fs*14; 1:26774988-26774989 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.6776_6783delTGGACATC; p.L2259fs*16; 1:26780674-26780681 |
lung | carcinoid-endocrine_tumour; typical | Deletion - Frameshift |
c.553C>T; p.Q185*; 1:26696956-26696956 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.276_277insG; p.P94fs*17; 1:26696679-26696680 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Insertion - Frameshift |
c.3817_3841del25; p.G1274fs*7; 1:26773447-26773471 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.6728_6729insG; p.V2244fs*34; 1:26780626-26780627 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.3817_3841del25; p.G1274fs*7; 1:26773447-26773471 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.4386_4387insA; p.R1463fs*28; 1:26774613-26774614 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.6572G>T; p.S2191I; 1:26780470-26780470 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2184_2198>T; p.P728fs; 1:26761406-26761420 |
liver | carcinoma; hepatocellular_carcinoma | Complex |
c.5689delC; p.P1898fs*25; 1:26779587-26779587 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.598C>T; p.Q200*; 1:26697001-26697001 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.2879-1G>A; p.?; 1:26766456-26766456 |
liver | carcinoma | Unknown |
c.5316A>T; p.K1772N; 1:26779214-26779214 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2879-1G>A; p.?; 1:26766456-26766456 |
liver | carcinoma | Unknown |
c.2466_2467insT; p.Y823fs*49; 1:26763019-26763020 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.5542delG; p.D1850fs*33; 1:26779440-26779440 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.5542delG; p.D1850fs*33; 1:26779440-26779440 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.5542delG; p.D1850fs*33; 1:26779440-26779440 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5542delG; p.D1850fs*33; 1:26779440-26779440 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5542delG; p.D1850fs*33; 1:26779440-26779440 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.5542delG; p.D1850fs*33; 1:26779440-26779440 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5542delG; p.D1850fs*33; 1:26779440-26779440 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5542delG; p.D1850fs*33; 1:26779440-26779440 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5542delG; p.D1850fs*33; 1:26779440-26779440 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.4693A>C; p.T1565P; 1:26774920-26774920 |
thyroid | other; neoplasm | Substitution - Missense |
c.5542delG; p.D1850fs*33; 1:26779440-26779440 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1242_1249delACATGGGT; p.H415fs*205; 1:26729755-26729762 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.5542delG; p.D1850fs*33; 1:26779440-26779440 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4683_4684insC; p.M1564fs*8; 1:26774910-26774911 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.5542delG; p.D1850fs*33; 1:26779440-26779440 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5719A>T; p.I1907F; 1:26779617-26779617 |
breast | carcinoma | Substitution - Missense |
c.5542delG; p.D1850fs*33; 1:26779440-26779440 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2128C>T; p.R710C; 1:26761063-26761063 |
skin | malignant_melanoma | Substitution - Missense |
c.5542delG; p.D1850fs*33; 1:26779440-26779440 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5825G>A; p.G1942D; 1:26779723-26779723 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.5542delG; p.D1850fs*33; 1:26779440-26779440 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1516T>C; p.S506P; 1:26731317-26731317 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.641C>T; p.S214F; 1:26697044-26697044 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2223G>A; p.M741I; 1:26761445-26761445 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4879C>G; p.P1627A; 1:26775106-26775106 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.5770G>AA; p.E1924fs; 1:26779668-26779668 |
liver | carcinoma; hepatocellular_carcinoma | Complex |
c.3277_3278insA; p.Q1095fs*10; 1:26771197-26771198 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Insertion - Frameshift |
c.5539_5539delG; p.G1847fs*36; 1:26779437-26779437 |
ovary | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.2106T>C; p.S702S; 1:26761041-26761041 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.4945_4946insA; p.T1649fs*49; 1:26775172-26775173 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Insertion - Frameshift |
c.3816G>A; p.A1272A; 1:26773446-26773446 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6540_6550del11; p.A2181fs*40; 1:26780438-26780448 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.4101G>A; p.Q1367Q; 1:26773898-26773898 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3386A>C; p.K1129T; 1:26771306-26771306 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Missense |
c.3145C>G; p.L1049V; 1:26767946-26767946 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4868C>T; p.S1623L; 1:26775095-26775095 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.782_791del10; p.S261fs*99; 1:26697185-26697194 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.5904_5905insGT; p.T1969fs*47; 1:26779802-26779803 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.3959C>A; p.S1320Y; 1:26773672-26773672 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2424_2425insT; p.Y809fs*8; 1:26762977-26762978 |
ovary | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.1007_1007delG; p.C336fs*27; 1:26697410-26697410 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.1681C>T; p.Q561*; 1:26731482-26731482 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3843T>G; p.Y1281*; 1:26773473-26773473 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.2758C>T; p.Q920*; 1:26766246-26766246 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1207C>T; p.Q403*; 1:26729720-26729720 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.3843T>G; p.Y1281*; 1:26773473-26773473 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.1207C>T; p.Q403*; 1:26729720-26729720 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2277_2278insC; p.Q761fs*56; 1:26762177-26762178 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.487G>A; p.A163T; 1:26696890-26696890 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2758C>T; p.Q920*; 1:26766246-26766246 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2306C>G; p.S769*; 1:26762206-26762206 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.1207C>T; p.Q403*; 1:26729720-26729720 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.2306C>G; p.S769*; 1:26762206-26762206 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.4072C>T; p.Q1358*; 1:26773869-26773869 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Nonsense |
c.6765A>C; p.E2255D; 1:26780663-26780663 |
liver | carcinoma | Substitution - Missense |
c.1345C>T; p.Q449*; 1:26729858-26729858 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1446G>A; p.Q482Q; 1:26731247-26731247 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4225C>T; p.Q1409*; 1:26774452-26774452 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.6765A>C; p.E2255D; 1:26780663-26780663 |
liver | carcinoma | Substitution - Missense |
c.1345C>T; p.Q449*; 1:26729858-26729858 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5899C>T; p.L1967L; 1:26779797-26779797 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.5787T>G; p.S1929R; 1:26779685-26779685 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.5841G>T; p.Q1947H; 1:26779739-26779739 |
breast | carcinoma | Substitution - Missense |
c.3827G>A; p.R1276Q; 1:26773457-26773457 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3277delA; p.K1094fs*67; 1:26771197-26771197 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1177C>T; p.Q393*; 1:26729690-26729690 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3575_3575delA; p.N1192fs*14; 1:26772847-26772847 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.5359G>T; p.E1787*; 1:26779257-26779257 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1177C>T; p.Q393*; 1:26729690-26729690 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1177C>T; p.Q393*; 1:26729690-26729690 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.1177C>T; p.Q393*; 1:26729690-26729690 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.5186G>A; p.G1729D; 1:26779084-26779084 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3277delA; p.K1094fs*67; 1:26771197-26771197 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1262C>T; p.P421L; 1:26729775-26729775 |
skin | malignant_melanoma | Substitution - Missense |
c.5872G>A; p.E1958K; 1:26779770-26779770 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1177C>T; p.Q393*; 1:26729690-26729690 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.6612C>G; p.A2204A; 1:26780510-26780510 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3820G>T; p.G1274*; 1:26773450-26773450 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.6718G>A; p.A2240T; 1:26780616-26780616 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3211_3211delA; p.K1072fs*21; 1:26771131-26771131 |
ovary | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.4834_4835delAA; p.K1612fs*35; 1:26775061-26775062 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Deletion - Frameshift |
c.1561C>T; p.Q521*; 1:26731362-26731362 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1991C>G; p.S664*; 1:26760926-26760926 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.5615C>T; p.A1872V; 1:26779513-26779513 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.2167C>T; p.Q723*; 1:26761389-26761389 |
skin; ankle | malignant_melanoma; acral_lentiginous | Substitution - Nonsense |
c.544G>A; p.A182T; 1:26696947-26696947 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2167C>T; p.Q723*; 1:26761389-26761389 |
breast | carcinoma | Substitution - Nonsense |
c.2993delC; p.S999fs*40; 1:26767794-26767794 |
urinary_tract; bladder | carcinoma | Deletion - Frameshift |
c.6094G>A; p.E2032K; 1:26779992-26779992 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5566C>T; p.Q1856*; 1:26779464-26779464 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.5566C>T; p.Q1856*; 1:26779464-26779464 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2993delC; p.S999fs*40; 1:26767794-26767794 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.5566C>T; p.Q1856*; 1:26779464-26779464 |
skin; neck | malignant_melanoma | Substitution - Nonsense |
c.3211_3211delA; p.K1072fs*21; 1:26771131-26771131 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.6372A>G; p.K2124K; 1:26780270-26780270 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1561C>T; p.Q521*; 1:26731362-26731362 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1991C>G; p.S664*; 1:26760926-26760926 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.360_367delGCCCGGCG; p.P121fs*276; 1:26696763-26696770 |
stomach | carcinoma; diffuse_adenocarcinoma | Deletion - Frameshift |
c.2167C>T; p.Q723*; 1:26761389-26761389 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4834_4835delAA; p.K1612fs*35; 1:26775061-26775062 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Deletion - Frameshift |
c.648C>A; p.Y216*; 1:26697051-26697051 |
autonomic_ganglia | neuroblastoma | Substitution - Nonsense |
c.5540_5541insG; p.G1848fs*6; 1:26779438-26779439 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.1226C>T; p.S409L; 1:26729739-26729739 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6806C>T; p.S2269L; 1:26780704-26780704 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1945_1946insT; p.M651fs*25; 1:26760880-26760881 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.6420_6420delC; p.F2141fs*59; 1:26780318-26780318 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5540_5541insG; p.G1848fs*6; 1:26779438-26779439 |
endometrium; ovary | endometriosis | Insertion - Frameshift |
c.6806C>T; p.S2269L; 1:26780704-26780704 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.6806C>T; p.S2269L; 1:26780704-26780704 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.3040delC; p.L1014fs*25; 1:26767841-26767841 |
urinary_tract; bladder | carcinoma | Deletion - Frameshift |
c.6420_6420delC; p.F2141fs*59; 1:26780318-26780318 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1798C>T; p.P600S; 1:26731599-26731599 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5540_5541insG; p.G1848fs*6; 1:26779438-26779439 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.1015delG; p.A339fs*24; 1:26697418-26697418 |
central_nervous_system; medulla | primitive_neuroectodermal_tumour-medulloblastoma; classic | Deletion - Frameshift |
c.4948C>T; p.Q1650*; 1:26775175-26775175 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; lymphoplasmacytic_lymphoma | Substitution - Nonsense |
c.4388G>A; p.R1463H; 1:26774615-26774615 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.5548_5549insG; p.D1850fs*4; 1:26779446-26779447 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.5293G>T; p.E1765*; 1:26779191-26779191 |
liver | carcinoma | Substitution - Nonsense |
c.5548_5549insG; p.D1850fs*4; 1:26779446-26779447 |
breast | carcinoma | Insertion - Frameshift |
c.3016G>T; p.E1006*; 1:26767817-26767817 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.1921-1G>A; p.?; 1:26760855-26760855 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.5548_5549insG; p.D1850fs*4; 1:26779446-26779447 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1015delG; p.A339fs*24; 1:26697418-26697418 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.4948C>T; p.Q1650*; 1:26775175-26775175 |
prostate | carcinoma | Substitution - Nonsense |
c.1015delG; p.A339fs*24; 1:26697418-26697418 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Deletion - Frameshift |
c.6298C>T; p.Q2100*; 1:26780196-26780196 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5548_5549insG; p.D1850fs*4; 1:26779446-26779447 |
prostate | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.3999G>A; p.Q1333Q; 1:26773712-26773712 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6023T>G; p.L2008R; 1:26779921-26779921 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1455_1456insCCTAC; p.S486fs*135; 1:26731256-26731257 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.3773A>G; p.D1258G; 1:26773403-26773403 |
stomach | adenocarcinoma | Substitution - Missense |
c.2016G>A; p.E672E; 1:26760951-26760951 |
breast | carcinoma | Substitution - coding silent |
c.1438C>T; p.Q480*; 1:26731239-26731239 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4381C>T; p.R1461*; 1:26774608-26774608 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6251T>G; p.V2084G; 1:26780149-26780149 |
pancreas | carcinoma | Substitution - Missense |
c.5202T>A; p.Y1734*; 1:26779100-26779100 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.6415_6416insC; p.F2141fs*9; 1:26780313-26780314 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.2988+1G>A; p.?; 1:26766567-26766567 |
pancreas | carcinoma; ductal_carcinoma | Unknown |
c.4381C>T; p.R1461*; 1:26774608-26774608 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6664_6665delCC; p.P2222fs*2; 1:26780562-26780563 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.6707G>C; p.R2236P; 1:26780605-26780605 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5606delG; p.P1870fs*13; 1:26779504-26779504 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.1683G>C; p.Q561H; 1:26731484-26731484 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1683G>C; p.Q561H; 1:26731484-26731484 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5606delG; p.P1870fs*13; 1:26779504-26779504 |
urinary_tract; bladder | carcinoma | Deletion - Frameshift |
c.4098G>A; p.Q1366Q; 1:26773895-26773895 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4550delC; p.Q1519fs*8; 1:26774777-26774777 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6018_6020delGCT; p.L2007del; 1:26779916-26779918 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - In frame |
c.309_321del13; p.N104fs*6; 1:26696712-26696724 |
liver | carcinoma | Deletion - Frameshift |
c.2048C>T; p.P683L; 1:26760983-26760983 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1841C>G; p.S614*; 1:26732713-26732713 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.4550delC; p.Q1519fs*8; 1:26774777-26774777 |
stomach | carcinoma; diffuse_adenocarcinoma | Deletion - Frameshift |
c.4681G>C; p.V1561L; 1:26774908-26774908 |
liver | carcinoma | Substitution - Missense |
c.3793G>A; p.G1265S; 1:26773423-26773423 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4550delC; p.Q1519fs*8; 1:26774777-26774777 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.6586C>T; p.L2196L; 1:26780484-26780484 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4550delC; p.Q1519fs*8; 1:26774777-26774777 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1841C>G; p.S614*; 1:26732713-26732713 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.2231C>G; p.S744*; 1:26761453-26761453 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2306C>A; p.S769*; 1:26762206-26762206 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6018_6020delGCT; p.L2007del; 1:26779916-26779918 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - In frame |
c.6746_6747insA; p.E2250fs*28; 1:26780644-26780645 |
breast | carcinoma | Insertion - Frameshift |
c.6236G>T; p.S2079I; 1:26780134-26780134 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4170C>T; p.S1390S; 1:26774397-26774397 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.313delG; p.N106fs*8; 1:26696716-26696716 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Deletion - Frameshift |
c.2632C>T; p.Q878*; 1:26763185-26763185 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.3039_3040insCT; p.G1015fs*25; 1:26767840-26767841 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.5944G>A; p.V1982I; 1:26779842-26779842 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.6538_6539insT; p.A2181fs*44; 1:26780436-26780437 |
liver | carcinoma | Insertion - Frameshift |
c.2632C>T; p.Q878*; 1:26763185-26763185 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2632C>T; p.Q878*; 1:26763185-26763185 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.5295_5296insG; p.E1766fs*7; 1:26779193-26779194 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.4720delC; p.P1575fs*37; 1:26774947-26774947 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5958T>G; p.N1986K; 1:26779856-26779856 |
liver | carcinoma | Substitution - Missense |
c.969_975delGGGCGCC; p.G324fs*37; 1:26697372-26697378 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6404T>A; p.I2135N; 1:26780302-26780302 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2632C>T; p.Q878*; 1:26763185-26763185 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.4238C>T; p.A1413V; 1:26774465-26774465 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.927G>T; p.Q309H; 1:26697330-26697330 |
liver | carcinoma | Substitution - Missense |
c.2632C>T; p.Q878*; 1:26763185-26763185 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.927G>T; p.Q309H; 1:26697330-26697330 |
liver | carcinoma | Substitution - Missense |
c.4238C>T; p.A1413V; 1:26774465-26774465 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3712_3715+36del40; p.?; 1:26772984-26773023 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.4640_4640delC; p.H1548fs*17; 1:26774867-26774867 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.1366C>T; p.Q456*; 1:26731167-26731167 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.3831G>A; p.Q1277Q; 1:26773461-26773461 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3539+1G>A; p.?; 1:26772633-26772633 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.2208_2209insAT; p.M737fs*6; 1:26761430-26761431 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.1366C>T; p.Q456*; 1:26731167-26731167 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4635G>A; p.W1545*; 1:26774862-26774862 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4635G>A; p.W1545*; 1:26774862-26774862 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.5175T>C; p.I1725I; 1:26779073-26779073 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4635G>A; p.W1545*; 1:26774862-26774862 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.1748A>G; p.Q583R; 1:26731549-26731549 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6160G>T; p.E2054*; 1:26780058-26780058 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5698G>A; p.D1900N; 1:26779596-26779596 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2427_2427delC; p.R811fs*22; 1:26762980-26762980 |
ovary | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.5069C>A; p.T1690N; 1:26775652-26775652 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2086_2087insC; p.S698fs*119; 1:26761021-26761022 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Insertion - Frameshift |
c.470_486del17; p.P158fs*236; 1:26696873-26696889 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.4743_4744delCA; p.I1582fs*20; 1:26774970-26774971 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.734_747del14; p.A245fs*150; 1:26697137-26697150 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.3340delC; p.P1115fs*46; 1:26771260-26771260 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1728G>T; p.Q576H; 1:26731529-26731529 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5698G>A; p.D1900N; 1:26779596-26779596 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.3340delC; p.P1115fs*46; 1:26771260-26771260 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4160A>G; p.E1387G; 1:26774387-26774387 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5125-1G>A; p.?; 1:26779022-26779022 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.46C>T; p.P16S; 1:26696449-26696449 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.5009G>A; p.W1670*; 1:26775592-26775592 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.5009G>A; p.W1670*; 1:26775592-26775592 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.3910G>T; p.A1304S; 1:26773623-26773623 |
liver | carcinoma | Substitution - Missense |
c.5301A>G; p.E1767E; 1:26779199-26779199 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5009G>A; p.W1670*; 1:26775592-26775592 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.3910G>T; p.A1304S; 1:26773623-26773623 |
liver | carcinoma | Substitution - Missense |
c.666delC; p.P224fs*8; 1:26697069-26697069 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.5125-1G>A; p.?; 1:26779022-26779022 |
stomach | carcinoma; diffuse_adenocarcinoma | Unknown |
c.6755_6756delCT; p.L2253fs*24; 1:26780653-26780654 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.666delC; p.P224fs*8; 1:26697069-26697069 |
liver | carcinoma | Deletion - Frameshift |
c.3377C>T; p.S1126F; 1:26771297-26771297 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3377C>T; p.S1126F; 1:26771297-26771297 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1449_1450insCC; p.Y485fs*135; 1:26731250-26731251 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.5404G>T; p.E1802*; 1:26779302-26779302 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.6008_6009insAC; p.P2005fs*11; 1:26779906-26779907 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Insertion - Frameshift |
c.1266C>A; p.Y422*; 1:26729779-26729779 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Nonsense |
c.6735delC; p.D2245fs*22; 1:26780633-26780633 |
liver | carcinoma | Deletion - Frameshift |
c.3037G>A; p.E1013K; 1:26767838-26767838 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.6391_6392insA; p.N2131fs*19; 1:26780289-26780290 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.5181_5182insT; p.G1729fs*7; 1:26779079-26779080 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2840_2841insC; p.Y948fs*59; 1:26766328-26766329 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.6646C>T; p.L2216F; 1:26780544-26780544 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6299A>G; p.Q2100R; 1:26780197-26780197 |
liver | carcinoma | Substitution - Missense |
c.6299A>G; p.Q2100R; 1:26780197-26780197 |
liver | carcinoma | Substitution - Missense |
c.1274delA; p.Q425fs*8; 1:26729787-26729787 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.6144G>A; p.W2048*; 1:26780042-26780042 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1335C>T; p.L445L; 1:26729848-26729848 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1501C>T; p.Q501*; 1:26731302-26731302 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1483C>T; p.H495Y; 1:26731284-26731284 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.3743C>A; p.S1248*; 1:26773373-26773373 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1582C>T; p.Q528*; 1:26731383-26731383 |
breast | carcinoma | Substitution - Nonsense |
c.3952delA; p.M1318fs*163; 1:26773665-26773665 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3670A>G; p.M1224V; 1:26772942-26772942 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1435C>T; p.Q479*; 1:26731236-26731236 |
breast | carcinoma | Substitution - Nonsense |
c.5180_5181delTC; p.F1728fs*7; 1:26779078-26779079 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.3948_3948delG; p.M1318fs*163; 1:26773661-26773661 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.1435C>T; p.Q479*; 1:26731236-26731236 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Substitution - Nonsense |
c.1435C>T; p.Q479*; 1:26731236-26731236 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1435C>T; p.Q479*; 1:26731236-26731236 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1582C>T; p.Q528*; 1:26731383-26731383 |
breast | carcinoma | Substitution - Nonsense |
c.5863C>T; p.L1955L; 1:26779761-26779761 |
skin | malignant_melanoma | Substitution - coding silent |
c.3743C>A; p.S1248*; 1:26773373-26773373 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.3743C>A; p.S1248*; 1:26773373-26773373 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.2201A>G; p.D734G; 1:26761423-26761423 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4801C>T; p.P1601S; 1:26775028-26775028 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1107_1108insG; p.Q372fs*28; 1:26697510-26697511 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.1435C>T; p.Q479*; 1:26731236-26731236 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1582C>T; p.Q528*; 1:26731383-26731383 |
breast | carcinoma | Substitution - Nonsense |
c.3909G>T; p.G1303G; 1:26773622-26773622 |
liver | carcinoma | Substitution - coding silent |
c.5796C>T; p.A1932A; 1:26779694-26779694 |
skin | malignant_melanoma | Substitution - coding silent |
c.3909G>T; p.G1303G; 1:26773622-26773622 |
liver | carcinoma | Substitution - coding silent |
c.6415_6415delC; p.F2141fs*59; 1:26780313-26780313 |
ovary | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.646T>C; p.Y216H; 1:26697049-26697049 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.4277A>T; p.D1426V; 1:26774504-26774504 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.4129_4130insA; p.Y1377fs*1; 1:26774356-26774357 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.3590C>G; p.S1197C; 1:26772862-26772862 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.5165G>A; p.R1722Q; 1:26779063-26779063 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.687C>A; p.Y229*; 1:26697090-26697090 |
pancreas | carcinoma | Substitution - Nonsense |
c.802C>T; p.Q268*; 1:26697205-26697205 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2073C>A; p.G691G; 1:26761008-26761008 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5228C>T; p.T1743M; 1:26779126-26779126 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5228C>T; p.T1743M; 1:26779126-26779126 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6791C>A; p.S2264*; 1:26780689-26780689 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1512delA; p.Q505fs*114; 1:26731313-26731313 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.3590C>G; p.S1197C; 1:26772862-26772862 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3590C>G; p.S1197C; 1:26772862-26772862 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.5762delC; p.L1922fs*1; 1:26779660-26779660 |
liver | carcinoma | Deletion - Frameshift |
c.1690_1691insC; p.Q564fs*59; 1:26731491-26731492 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Insertion - Frameshift |
c.2073C>A; p.G691G; 1:26761008-26761008 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.5165G>A; p.R1722Q; 1:26779063-26779063 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6762C>G; p.Y2254*; 1:26780660-26780660 |
liver | carcinoma | Substitution - Nonsense |
c.6762C>G; p.Y2254*; 1:26780660-26780660 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.6762C>G; p.Y2254*; 1:26780660-26780660 |
liver | carcinoma | Substitution - Nonsense |
c.5336A>G; p.E1779G; 1:26779234-26779234 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4053_4068del16; p.P1353fs*123; 1:26773850-26773865 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.6313A>C; p.T2105P; 1:26780211-26780211 |
breast | carcinoma | Substitution - Missense |
c.1223C>T; p.P408L; 1:26729736-26729736 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1223C>T; p.P408L; 1:26729736-26729736 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1496C>T; p.S499L; 1:26731297-26731297 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6625_6625delC; p.Q2209fs*22; 1:26780523-26780523 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.3855_3861delTGACAGA; p.Y1285fs*1; 1:26773485-26773491 |
breast | carcinoma | Deletion - Frameshift |
c.2718_2719insCT; p.S907fs*13; 1:26763271-26763272 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.5192T>A; p.L1731*; 1:26779090-26779090 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5578G>T; p.E1860*; 1:26779476-26779476 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.5578G>T; p.E1860*; 1:26779476-26779476 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6427C>T; p.R2143C; 1:26780325-26780325 |
breast | carcinoma | Substitution - Missense |
c.5138T>C; p.L1713P; 1:26779036-26779036 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6226_6227insC; p.Y2076fs*23; 1:26780124-26780125 |
pancreas | carcinoma | Insertion - Frameshift |
c.1060C>T; p.Q354*; 1:26697463-26697463 |
stomach | adenocarcinoma | Substitution - Nonsense |
c.1341T>G; p.Y447*; 1:26729854-26729854 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.4851_4851delT; p.P1619fs*7; 1:26775078-26775078 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.6427C>T; p.R2143C; 1:26780325-26780325 |
pancreas | carcinoma | Substitution - Missense |
c.6774_6792del19; p.L2259fs*2; 1:26780672-26780690 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.2396_2397insG; p.Q802fs*15; 1:26762296-26762297 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1650_1650delC; p.Y551fs*68; 1:26731451-26731451 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5650A>T; p.T1884S; 1:26779548-26779548 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2101G>T; p.G701C; 1:26761036-26761036 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2272_2272delC; p.Q758fs*75; 1:26762172-26762172 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.3057G>A; p.E1019E; 1:26767858-26767858 |
skin | malignant_melanoma | Substitution - coding silent |
c.1696C>T; p.Q566*; 1:26731497-26731497 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.6746_6747ins?; p.(2287)fs; 1:26780644-26780645 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; lymphoplasmacytic_lymphoma | Insertion - Frameshift |
c.2378_2379delTG; p.M793fs*23; 1:26762278-26762279 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.2290_2291insC; p.Q766fs*51; 1:26762190-26762191 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.3854_3861ATGACAGA>T; p.Y1285fs*2; 1:26773484-26773491 |
breast | carcinoma | Deletion - Frameshift |
c.1696C>T; p.Q566*; 1:26731497-26731497 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.2260C>T; p.Q754*; 1:26762160-26762160 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3788C>T; p.A1263V; 1:26773418-26773418 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2290_2291insC; p.Q766fs*51; 1:26762190-26762191 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.1696C>T; p.Q566*; 1:26731497-26731497 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.829delG; p.G277fs*86; 1:26697232-26697232 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1241G>A; p.G414E; 1:26729754-26729754 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.4895C>T; p.P1632L; 1:26775122-26775122 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1571A>G; p.Q524R; 1:26731372-26731372 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2327C>G; p.P776R; 1:26762227-26762227 |
skin | malignant_melanoma | Substitution - Missense |
c.1241G>A; p.G414E; 1:26729754-26729754 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.56_57insGCCGCC; p.P19_P20insPP; 1:26696459-26696460 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - In frame |
c.6180C>T; p.T2060T; 1:26780078-26780078 |
ovary | other; neoplasm | Substitution - coding silent |
c.1241G>A; p.G414E; 1:26729754-26729754 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2879G>T; p.G960V; 1:26766457-26766457 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2732+2T>C; p.?; 1:26763287-26763287 |
skin | malignant_melanoma | Unknown |
c.289G>T; p.E97*; 1:26696692-26696692 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.4538_4548delGCACGGGCTCT; p.T1514fs*14; 1:26774765-26774775 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.4366C>T; p.P1456S; 1:26774593-26774593 |
skin | malignant_melanoma | Substitution - Missense |
c.1242A>G; p.G414G; 1:26729755-26729755 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1242A>G; p.G414G; 1:26729755-26729755 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2027C>T; p.P676L; 1:26760962-26760962 |
skin | malignant_melanoma | Substitution - Missense |
c.5894C>T; p.T1965I; 1:26779792-26779792 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5216_5249del34; p.G1740fs*19; 1:26779114-26779147 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.5216_5249del34; p.G1740fs*19; 1:26779114-26779147 |
urinary_tract; bladder | carcinoma | Deletion - Frameshift |
c.1776T>G; p.Y592*; 1:26731577-26731577 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.6762C>A; p.Y2254*; 1:26780660-26780660 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1242A>G; p.G414G; 1:26729755-26729755 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1242A>G; p.G414G; 1:26729755-26729755 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1508_1509insAAGGCCCCAGCGGGTATGGTCAACAGGGC; p.P504fs*125; 1:26731309-26731310 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Insertion - Frameshift |
c.6824T>C; p.I2275T; 1:26780722-26780722 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1184A>G; p.Y395C; 1:26729697-26729697 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4973G>A; p.R1658Q; 1:26775200-26775200 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1333_1334delCT; p.S446fs*176; 1:26729846-26729847 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1184A>G; p.Y395C; 1:26729697-26729697 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2357_2358insG; p.S787fs*30; 1:26762257-26762258 |
stomach | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.6563A>G; p.Q2188R; 1:26780461-26780461 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1627C>A; p.Q543K; 1:26731428-26731428 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.5619C>T; p.P1873P; 1:26779517-26779517 |
breast | carcinoma | Substitution - coding silent |
c.3082C>T; p.L1028L; 1:26767883-26767883 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.4778G>T; p.R1593L; 1:26775005-26775005 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3634C>T; p.Q1212*; 1:26772906-26772906 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Nonsense |
c.3634C>T; p.Q1212*; 1:26772906-26772906 |
pancreas | carcinoma | Substitution - Nonsense |
c.5541_5542insG; p.D1850fs*4; 1:26779439-26779440 |
salivary_gland; parotid | carcinoma; adenoid_cystic_carcinoma | Insertion - Frameshift |
c.4534C>T; p.Q1512*; 1:26774761-26774761 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5541_5542insG; p.D1850fs*4; 1:26779439-26779440 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.5541_5542insG; p.D1850fs*4; 1:26779439-26779440 |
lung | carcinoid-endocrine_tumour; typical | Insertion - Frameshift |
c.486_492delCGCCGCC; p.A163fs*67; 1:26696889-26696895 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.3634C>T; p.Q1212*; 1:26772906-26772906 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.3634C>T; p.Q1212*; 1:26772906-26772906 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.3634C>T; p.Q1212*; 1:26772906-26772906 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.5541_5542insG; p.D1850fs*4; 1:26779439-26779440 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1632C>T; p.H544H; 1:26731433-26731433 |
skin | malignant_melanoma | Substitution - coding silent |
c.6303delC; p.S2104fs*31; 1:26780201-26780201 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.4893_4894insC; p.M1634fs*14; 1:26775120-26775121 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.4201C>T; p.Q1401*; 1:26774428-26774428 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2789A>G; p.Y930C; 1:26766277-26766277 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.4893_4894insC; p.M1634fs*14; 1:26775120-26775121 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Insertion - Frameshift |
c.4201C>T; p.Q1401*; 1:26774428-26774428 |
skin | malignant_melanoma | Substitution - Nonsense |
c.6303delC; p.S2104fs*31; 1:26780201-26780201 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1277delC; p.P427fs*6; 1:26729790-26729790 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3851_3852insA; p.Y1285fs*2; 1:26773481-26773482 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.6393T>G; p.N2131K; 1:26780291-26780291 |
liver | carcinoma | Substitution - Missense |
c.4201C>T; p.Q1401*; 1:26774428-26774428 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.4993+93C>G; p.?; 1:26775313-26775313 |
breast | carcinoma; ductal_carcinoma | Unknown |
c.2605G>A; p.G869S; 1:26763158-26763158 |
skin | malignant_melanoma | Substitution - Missense |
c.6393T>G; p.N2131K; 1:26780291-26780291 |
liver | carcinoma | Substitution - Missense |
c.2834delG; p.G945fs*23; 1:26766322-26766322 |
lung | carcinoma | Deletion - Frameshift |
c.2834delG; p.G945fs*23; 1:26766322-26766322 |
lung | carcinoma; small_cell_carcinoma | Deletion - Frameshift |
c.3951_3952insGG; p.M1318fs*164; 1:26773664-26773665 |
urinary_tract; bladder | carcinoma | Insertion - Frameshift |
c.5047G>C; p.E1683Q; 1:26775630-26775630 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4680T>C; p.P1560P; 1:26774907-26774907 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6103G>T; p.E2035*; 1:26780001-26780001 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.2834delG; p.G945fs*23; 1:26766322-26766322 |
lung | carcinoma; small_cell_carcinoma | Deletion - Frameshift |
c.2834delG; p.G945fs*23; 1:26766322-26766322 |
lung | carcinoma; small_cell_carcinoma | Deletion - Frameshift |
c.3977C>T; p.P1326L; 1:26773690-26773690 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1070_1070delG; p.S357fs*6; 1:26697473-26697473 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.4878A>C; p.A1626A; 1:26775105-26775105 |
breast | carcinoma | Substitution - coding silent |
c.4354_4354delC; p.Q1452fs*29; 1:26774581-26774581 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6572_6580delGTATCGGCA; p.S2191_G2193delSIG; 1:26780470-26780478 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.6527_6528delAG; p.Q2176fs*48; 1:26780425-26780426 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Deletion - Frameshift |
c.3607A>T; p.N1203Y; 1:26772879-26772879 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2465_2466insT; p.Y823fs*49; 1:26763018-26763019 |
pancreas | carcinoma | Insertion - Frameshift |
c.2752A>G; p.M918V; 1:26766240-26766240 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.4709C>G; p.S1570C; 1:26774936-26774936 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.5143_5145delCTC; p.L1716delL; 1:26779041-26779043 |
stomach | carcinoma; diffuse_adenocarcinoma | Deletion - In frame |
c.6527_6528delAG; p.Q2176fs*48; 1:26780425-26780426 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Deletion - Frameshift |
c.6593T>C; p.F2198S; 1:26780491-26780491 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.6074A>C; p.K2025T; 1:26779972-26779972 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2445T>G; p.Y815*; 1:26762998-26762998 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6624delC; p.Q2209fs*22; 1:26780522-26780522 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.3977_3977delC; p.P1326fs*155; 1:26773690-26773690 |
prostate | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6624delC; p.Q2209fs*22; 1:26780522-26780522 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.6055C>A; p.H2019N; 1:26779953-26779953 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2732+1G>C; p.?; 1:26763286-26763286 |
liver | carcinoma | Unknown |
c.5568G>T; p.Q1856H; 1:26779466-26779466 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4766C>T; p.A1589V; 1:26774993-26774993 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6109C>T; p.Q2037*; 1:26780007-26780007 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; lymphoplasmacytic_lymphoma | Substitution - Nonsense |
c.4926_4927insTGGC; p.P1643fs*6; 1:26775153-26775154 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.1793C>A; p.P598H; 1:26731594-26731594 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2732+1G>C; p.?; 1:26763286-26763286 |
liver | carcinoma | Unknown |
c.6109C>T; p.Q2037*; 1:26780007-26780007 |
breast | carcinoma | Substitution - Nonsense |
c.6584T>C; p.L2195P; 1:26780482-26780482 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2268delC; p.Q758fs*75; 1:26762168-26762168 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.3010A>G; p.T1004A; 1:26767811-26767811 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6473G>A; p.R2158Q; 1:26780371-26780371 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2268delC; p.Q758fs*75; 1:26762168-26762168 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.649_653delCCCAA; p.N218fs*180; 1:26697052-26697056 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4632G>A; p.S1544S; 1:26774859-26774859 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6473G>A; p.R2158Q; 1:26780371-26780371 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3762C>T; p.G1254G; 1:26773392-26773392 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.959C>T; p.P320L; 1:26697362-26697362 |
ovary | other; neoplasm | Substitution - Missense |
c.3134_3134delG; p.G1045fs*14; 1:26767935-26767935 |
breast | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.1638_1639insC; p.S547fs*76; 1:26731439-26731440 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.4350delC; p.Q1452fs*29; 1:26774577-26774577 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.5715_5715delA; p.K1905fs*18; 1:26779613-26779613 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.833G>C; p.G278A; 1:26697236-26697236 |
stomach | adenocarcinoma | Substitution - Missense |
c.1298delC; p.M434fs*185; 1:26729811-26729811 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.5803G>T; p.E1935*; 1:26779701-26779701 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Nonsense |
c.1620G>A; p.T540T; 1:26731421-26731421 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6005C>T; p.S2002F; 1:26779903-26779903 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2019delG; p.S674fs*68; 1:26760954-26760954 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.2019delG; p.S674fs*68; 1:26760954-26760954 |
liver | carcinoma | Deletion - Frameshift |
c.5216_5216delC; p.P1739fs*31; 1:26779114-26779114 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Deletion - Frameshift |
c.4606G>A; p.D1536N; 1:26774833-26774833 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1213C>T; p.Q405*; 1:26729726-26729726 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3667C>T; p.R1223C; 1:26772939-26772939 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1375C>G; p.P459A; 1:26731176-26731176 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3667C>T; p.R1223C; 1:26772939-26772939 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1165A>T; p.K389*; 1:26729678-26729678 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3762_3763insG; p.M1256fs*3; 1:26773392-26773393 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Insertion - Frameshift |
c.2765G>A; p.G922D; 1:26766253-26766253 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6848G>A; p.G2283D; 1:26780746-26780746 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4716C>G; p.Y1572*; 1:26774943-26774943 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Nonsense |
c.1951_1952insT; p.M651fs*25; 1:26760886-26760887 |
oesophagus | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.5942_5943delGC; p.V1982fs*16; 1:26779840-26779841 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Deletion - Frameshift |
c.3368C>T; p.S1123F; 1:26771288-26771288 |
skin | malignant_melanoma | Substitution - Missense |
c.1376C>T; p.P459L; 1:26731177-26731177 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1756C>T; p.Q586*; 1:26731557-26731557 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Nonsense |
c.805C>T; p.Q269*; 1:26697208-26697208 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1756C>T; p.Q586*; 1:26731557-26731557 |
ovary | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6330C>T; p.A2110A; 1:26780228-26780228 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6292_6293insG; p.E2098fs*52; 1:26780190-26780191 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.5947_5948delTG; p.S1985fs*13; 1:26779845-26779846 |
pancreas | NS | Deletion - Frameshift |
c.1699delC; p.Q567fs*52; 1:26731500-26731500 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5947_5948delTG; p.S1985fs*13; 1:26779845-26779846 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.5051G>A; p.S1684N; 1:26775634-26775634 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5947_5948delTG; p.S1985fs*13; 1:26779845-26779846 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.125_126insAGC; p.A45_E46insA; 1:26696528-26696529 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Insertion - In frame |
c.6694C>T; p.R2232W; 1:26780592-26780592 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1314G>A; p.A438A; 1:26729827-26729827 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6248C>A; p.P2083H; 1:26780146-26780146 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.883_884insC; p.L295fs*105; 1:26697286-26697287 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.5477A>G; p.D1826G; 1:26779375-26779375 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6493G>C; p.E2165Q; 1:26780391-26780391 |
endometrium | carcinoma; clear_cell_carcinoma | Substitution - Missense |
c.2910_2911insG; p.D972fs*35; 1:26766488-26766489 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.2879-1G>C; p.?; 1:26766456-26766456 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.5561_5562insT; p.I1855fs*46; 1:26779459-26779460 |
liver | carcinoma | Insertion - Frameshift |
c.4807A>T; p.K1603*; 1:26775034-26775034 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.5166A>G; p.R1722R; 1:26779064-26779064 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2002A>T; p.S668C; 1:26760937-26760937 |
thyroid | other; neoplasm | Substitution - Missense |
c.645C>A; p.Y215*; 1:26697048-26697048 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.645C>A; p.Y215*; 1:26697048-26697048 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1680C>A; p.Y560*; 1:26731481-26731481 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.2348delC; p.T783fs*50; 1:26762248-26762248 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.2348delC; p.T783fs*50; 1:26762248-26762248 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6156C>A; p.C2052*; 1:26780054-26780054 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.2318C>T; p.P773L; 1:26762218-26762218 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3524_3524delC; p.P1175fs*5; 1:26772617-26772617 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5791G>T; p.E1931*; 1:26779689-26779689 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1848_1848delC; p.S617fs*2; 1:26732720-26732720 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1351-1G>T; p.?; 1:26731151-26731151 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1887C>A; p.N629K; 1:26732759-26732759 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.6156C>A; p.C2052*; 1:26780054-26780054 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.1881_1881delT; p.D627fs*2; 1:26732753-26732753 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.4200T>C; p.P1400P; 1:26774427-26774427 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5385G>C; p.K1795N; 1:26779283-26779283 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5548_5548delG; p.D1850fs*33; 1:26779446-26779446 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.1108_1108delG; p.Q372fs*19; 1:26697511-26697511 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.2786C>T; p.P929L; 1:26766274-26766274 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5548_5548delG; p.D1850fs*33; 1:26779446-26779446 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5548_5548delG; p.D1850fs*33; 1:26779446-26779446 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.6428G>A; p.R2143H; 1:26780326-26780326 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.5548_5548delG; p.D1850fs*33; 1:26779446-26779446 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5548_5548delG; p.D1850fs*33; 1:26779446-26779446 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1804G>T; p.E602*; 1:26732676-26732676 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.5548_5548delG; p.D1850fs*33; 1:26779446-26779446 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5548_5548delG; p.D1850fs*33; 1:26779446-26779446 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5548_5548delG; p.D1850fs*33; 1:26779446-26779446 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5138T>A; p.L1713Q; 1:26779036-26779036 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
liver | carcinoma | Substitution - Nonsense |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5548_5548delG; p.D1850fs*33; 1:26779446-26779446 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5548_5548delG; p.D1850fs*33; 1:26779446-26779446 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2107_2107delC; p.A704fs*38; 1:26761042-26761042 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
pancreas | carcinoma | Substitution - Nonsense |
c.5548_5548delG; p.D1850fs*33; 1:26779446-26779446 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5548_5548delG; p.D1850fs*33; 1:26779446-26779446 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
liver | carcinoma | Substitution - Nonsense |
c.5548_5548delG; p.D1850fs*33; 1:26779446-26779446 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3028A>T; p.K1010*; 1:26767829-26767829 |
NS | NS | Substitution - Nonsense |
c.5269G>C; p.A1757P; 1:26779167-26779167 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
pancreas | carcinoma | Substitution - Nonsense |
c.5965C>T; p.R1989*; 1:26779863-26779863 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.4124G>C; p.G1375A; 1:26774351-26774351 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.822delG; p.G276fs*87; 1:26697225-26697225 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.1657C>T; p.Q553*; 1:26731458-26731458 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.822delG; p.G276fs*87; 1:26697225-26697225 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.822delG; p.G276fs*87; 1:26697225-26697225 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.4781C>T; p.P1594L; 1:26775008-26775008 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.1210C>T; p.Q404*; 1:26729723-26729723 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4637C>T; p.P1546L; 1:26774864-26774864 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5164C>T; p.R1722*; 1:26779062-26779062 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5161C>T; p.R1721*; 1:26779059-26779059 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5161C>T; p.R1721*; 1:26779059-26779059 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.5161C>T; p.R1721*; 1:26779059-26779059 |
endometrium | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.5164C>T; p.R1722*; 1:26779062-26779062 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1210C>T; p.Q404*; 1:26729723-26729723 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6564G>T; p.Q2188H; 1:26780462-26780462 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.5164C>T; p.R1722*; 1:26779062-26779062 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5161C>T; p.R1721*; 1:26779059-26779059 |
endometrium | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.5161C>T; p.R1721*; 1:26779059-26779059 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.5365delG; p.A1789fs*17; 1:26779263-26779263 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.5164C>T; p.R1722*; 1:26779062-26779062 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5164C>T; p.R1722*; 1:26779062-26779062 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5164C>T; p.R1722*; 1:26779062-26779062 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4069C>T; p.Q1357*; 1:26773866-26773866 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4069C>T; p.Q1357*; 1:26773866-26773866 |
salivary_gland; parotid | carcinoma; adenoid_cystic_carcinoma | Substitution - Nonsense |
c.1210C>T; p.Q404*; 1:26729723-26729723 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.5161C>T; p.R1721*; 1:26779059-26779059 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.5161C>T; p.R1721*; 1:26779059-26779059 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5161C>T; p.R1721*; 1:26779059-26779059 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1351-2A>G; p.?; 1:26731150-26731150 |
liver | carcinoma | Unknown |
c.5161C>T; p.R1721*; 1:26779059-26779059 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Nonsense |
c.5164C>T; p.R1722*; 1:26779062-26779062 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6763G>A; p.E2255K; 1:26780661-26780661 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5164C>T; p.R1722*; 1:26779062-26779062 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5161C>T; p.R1721*; 1:26779059-26779059 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.319_328delGCGGGCCCTA; p.A107fs*4; 1:26696722-26696731 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.5164C>T; p.R1722*; 1:26779062-26779062 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.1351-2A>G; p.?; 1:26731150-26731150 |
liver | carcinoma | Unknown |
c.2253delT; p.Y752fs*81; 1:26762153-26762153 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.2899A>G; p.M967V; 1:26766477-26766477 |
liver | carcinoma | Substitution - Missense |
c.5585A>G; p.K1862R; 1:26779483-26779483 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2234G>A; p.S745N; 1:26761456-26761456 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.3440C>T; p.P1147L; 1:26772533-26772533 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.4909C>A; p.R1637R; 1:26775136-26775136 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5605C>T; p.R1869W; 1:26779503-26779503 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1939G>A; p.D647N; 1:26760874-26760874 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.2899A>G; p.M967V; 1:26766477-26766477 |
liver | carcinoma | Substitution - Missense |
c.1753C>T; p.Q585*; 1:26731554-26731554 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Nonsense |
c.5782A>T; p.K1928*; 1:26779680-26779680 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2830C>T; p.Q944*; 1:26766318-26766318 |
liver | carcinoma | Substitution - Nonsense |
c.4840C>T; p.Q1614*; 1:26775067-26775067 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.2830C>T; p.Q944*; 1:26766318-26766318 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.2830C>T; p.Q944*; 1:26766318-26766318 |
breast | carcinoma | Substitution - Nonsense |
c.3079_3080insATCTGGC; p.F1030fs*5; 1:26767880-26767881 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Insertion - Frameshift |
c.2830C>T; p.Q944*; 1:26766318-26766318 |
liver | carcinoma | Substitution - Nonsense |
c.2830C>T; p.Q944*; 1:26766318-26766318 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.4840C>T; p.Q1614*; 1:26775067-26775067 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2830C>T; p.Q944*; 1:26766318-26766318 |
breast | carcinoma | Substitution - Nonsense |
c.1340A>G; p.Y447C; 1:26729853-26729853 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2830C>T; p.Q944*; 1:26766318-26766318 |
breast | carcinoma | Substitution - Nonsense |
c.6619C>T; p.Q2207*; 1:26780517-26780517 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1197C>G; p.N399K; 1:26729710-26729710 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3281_3281delA; p.K1094fs*67; 1:26771201-26771201 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1765C>T; p.Q589*; 1:26731566-26731566 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1852A>C; p.M618L; 1:26732724-26732724 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.1765C>T; p.Q589*; 1:26731566-26731566 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.2999C>A; p.S1000Y; 1:26767800-26767800 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2999C>A; p.S1000Y; 1:26767800-26767800 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4880_4893delCTGCCCCTGTGCAG; p.A1628fs*15; 1:26775107-26775120 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.2017C>T; p.Q673*; 1:26760952-26760952 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1644_1645insC; p.Y551fs*72; 1:26731445-26731446 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.3660_3684del25; p.M1220fs*9; 1:26772932-26772956 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.6526C>T; p.Q2176*; 1:26780424-26780424 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.1642C>T; p.Q548*; 1:26731443-26731443 |
breast | carcinoma | Substitution - Nonsense |
c.6196A>G; p.N2066D; 1:26780094-26780094 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Missense |
c.1642C>T; p.Q548*; 1:26731443-26731443 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.4014C>T; p.S1338S; 1:26773811-26773811 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.355G>A; p.E119K; 1:26696758-26696758 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.6196A>G; p.N2066D; 1:26780094-26780094 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.3152T>G; p.L1051R; 1:26767953-26767953 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.1652_1652delA; p.Y551fs*68; 1:26731453-26731453 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; lymphoplasmacytic_lymphoma | Deletion - Frameshift |
c.4165T>C; p.Y1389H; 1:26774392-26774392 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3633T>A; p.Y1211*; 1:26772905-26772905 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.1800G>A; p.P600P; 1:26731601-26731601 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6706_6707delCG; p.L2238fs*39; 1:26780604-26780605 |
liver | carcinoma | Deletion - Frameshift |
c.4808_4848del41; p.K1603fs*31; 1:26775035-26775075 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Deletion - Frameshift |
c.997G>A; p.A333T; 1:26697400-26697400 |
liver | carcinoma | Substitution - Missense |
c.4439T>C; p.M1480T; 1:26774666-26774666 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2974G>T; p.E992*; 1:26766552-26766552 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5119A>G; p.S1707G; 1:26775702-26775702 |
NS | malignant_melanoma | Substitution - Missense |
c.997G>A; p.A333T; 1:26697400-26697400 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4087C>T; p.Q1363*; 1:26773884-26773884 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.997G>A; p.A333T; 1:26697400-26697400 |
liver | carcinoma | Substitution - Missense |
c.5012_5012delG; p.V1672fs*1; 1:26775595-26775595 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Deletion - Frameshift |
c.5119A>G; p.S1707G; 1:26775702-26775702 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.753_763del11; p.P252fs*144; 1:26697156-26697166 |
autonomic_ganglia | neuroblastoma | Deletion - Frameshift |
c.5294_5294delA; p.E1766fs*4; 1:26779192-26779192 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.5221C>T; p.Q1741*; 1:26779119-26779119 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.5221C>T; p.Q1741*; 1:26779119-26779119 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1568C>A; p.S523Y; 1:26731369-26731369 |
pancreas | carcinoma | Substitution - Missense |
c.2618C>T; p.A873V; 1:26763171-26763171 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.4823A>G; p.H1608R; 1:26775050-26775050 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.4499G>T; p.G1500V; 1:26774726-26774726 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5221C>T; p.Q1741*; 1:26779119-26779119 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.6203C>T; p.S2068L; 1:26780101-26780101 |
pancreas | carcinoma | Substitution - Missense |
c.5221C>T; p.Q1741*; 1:26779119-26779119 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4101+1G>C; p.?; 1:26773899-26773899 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.2868_2868delC; p.N956fs*12; 1:26766356-26766356 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.3373_3374insA; p.S1126fs*67; 1:26771293-26771294 |
stomach | carcinoma; diffuse_adenocarcinoma | Insertion - Frameshift |
c.6346A>T; p.R2116*; 1:26780244-26780244 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.2979_2980insA; p.S995fs*12; 1:26766557-26766558 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.6381C>G; p.I2127M; 1:26780279-26780279 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1570C>T; p.Q524*; 1:26731371-26731371 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.5777G>C; p.G1926A; 1:26779675-26779675 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.6381C>G; p.I2127M; 1:26780279-26780279 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4093C>T; p.Q1365*; 1:26773890-26773890 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.6381C>G; p.I2127M; 1:26780279-26780279 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.5641_5650del10; p.H1881fs*39; 1:26779539-26779548 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1813C>T; p.Q605*; 1:26732685-26732685 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1197_1197delC; p.P400fs*33; 1:26729710-26729710 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.5202T>C; p.Y1734Y; 1:26779100-26779100 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3133G>A; p.G1045S; 1:26767934-26767934 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.6703_6706delGCCC; p.A2237fs*29; 1:26780601-26780604 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.1570C>T; p.Q524*; 1:26731371-26731371 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.3972C>A; p.Y1324*; 1:26773685-26773685 |
lung | carcinoid-endocrine_tumour; atypical | Substitution - Nonsense |
c.4626A>G; p.E1542E; 1:26774853-26774853 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3972C>A; p.Y1324*; 1:26773685-26773685 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2248C>T; p.R750*; 1:26761470-26761470 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.942C>G; p.G314G; 1:26697716-26697716 |
breast | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.4349_4350insC; p.Q1452fs*39; 1:26774576-26774577 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1577C>T; p.P526L; 1:26731378-26731378 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3784C>T; p.R1262C; 1:26773414-26773414 |
skin | malignant_melanoma | Substitution - Missense |
c.942C>G; p.G314G; 1:26697716-26697716 |
breast | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.1156C>T; p.Q386*; 1:26729669-26729669 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.942C>G; p.G314G; 1:26697716-26697716 |
breast | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.5481C>T; p.C1827C; 1:26779379-26779379 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3584delG; p.S1195fs*11; 1:26772856-26772856 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.3784C>T; p.R1262C; 1:26773414-26773414 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2248C>T; p.R750*; 1:26761470-26761470 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.4397C>T; p.A1466V; 1:26774624-26774624 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2248C>T; p.R750*; 1:26761470-26761470 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1014_1014delG; p.A339fs*24; 1:26697417-26697417 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3148G>A; p.D1050N; 1:26767949-26767949 |
stomach | adenocarcinoma | Substitution - Missense |
c.2248C>T; p.R750*; 1:26761470-26761470 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5966G>T; p.R1989L; 1:26779864-26779864 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2142_2143insT; p.S715fs*102; 1:26761077-26761078 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.3598C>T; p.Q1200*; 1:26772870-26772870 |
stomach | adenocarcinoma | Substitution - Nonsense |
c.4852delC; p.P1619fs*7; 1:26775079-26775079 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.3598C>T; p.Q1200*; 1:26772870-26772870 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.6702_6702delT; p.A2235fs*32; 1:26780600-26780600 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.6761_6767delACGAATC; p.E2255fs*10; 1:26780659-26780665 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.3785G>A; p.R1262H; 1:26773415-26773415 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3598C>T; p.Q1200*; 1:26772870-26772870 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.5975C>G; p.S1992*; 1:26779873-26779873 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.5503C>T; p.Q1835*; 1:26779401-26779401 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5975C>G; p.S1992*; 1:26779873-26779873 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.2683C>T; p.Q895*; 1:26763236-26763236 |
NS | malignant_melanoma | Substitution - Nonsense |
c.5975C>G; p.S1992*; 1:26779873-26779873 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.2683C>T; p.Q895*; 1:26763236-26763236 |
NS | malignant_melanoma | Substitution - Nonsense |
c.804G>A; p.Q268Q; 1:26697207-26697207 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5503C>T; p.Q1835*; 1:26779401-26779401 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.2272C>T; p.Q758*; 1:26762172-26762172 |
liver | carcinoma | Substitution - Nonsense |
c.2272C>T; p.Q758*; 1:26762172-26762172 |
liver | carcinoma | Substitution - Nonsense |
c.607_608insA; p.H203fs*197; 1:26697010-26697011 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.6403A>G; p.I2135V; 1:26780301-26780301 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.318_330del13; p.A107fs*3; 1:26696721-26696733 |
liver | carcinoma | Deletion - Frameshift |
c.4917delC; p.T1640fs*14; 1:26775144-26775144 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.3989_3991delAGC; p.Q1334delQ; 1:26773702-26773704 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - In frame |
c.1875A>G; p.Q625Q; 1:26732747-26732747 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1626_1627delGC; p.Q543fs*79; 1:26731427-26731428 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.3283C>T; p.Q1095*; 1:26771203-26771203 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1669C>T; p.Q557*; 1:26731470-26731470 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2110G>A; p.A704T; 1:26761045-26761045 |
large_intestine; colon | adenoma | Substitution - Missense |
c.2657_2657delC; p.P886fs*5; 1:26763210-26763210 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3283C>T; p.Q1095*; 1:26771203-26771203 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6287C>G; p.S2096*; 1:26780185-26780185 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.4258_4259insA; p.P1421fs*24; 1:26774485-26774486 |
liver | carcinoma | Insertion - Frameshift |
c.2827C>A; p.P943T; 1:26766315-26766315 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1241G>T; p.G414V; 1:26729754-26729754 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2208C>A; p.I736I; 1:26761430-26761430 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4217_4221delCCCCA; p.P1406fs*37; 1:26774444-26774448 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4993delG; p.G1665fs*8; 1:26775220-26775220 |
liver | carcinoma | Deletion - Frameshift |
c.149_150insG; p.K51fs*60; 1:26696552-26696553 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.5747C>G; p.S1916C; 1:26779645-26779645 |
breast | carcinoma | Substitution - Missense |
c.6785C>A; p.S2262*; 1:26780683-26780683 |
pancreas | carcinoma | Substitution - Nonsense |
c.2866A>T; p.N956Y; 1:26766354-26766354 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3995A>G; p.Q1332R; 1:26773708-26773708 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5176G>C; p.E1726Q; 1:26779074-26779074 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1015_1029delGCTGCGGCGGCGGCA; p.A339_A343delAAAAA; 1:26697418-26697432 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.2834G>A; p.G945E; 1:26766322-26766322 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.4062C>T; p.F1354F; 1:26773859-26773859 |
skin | malignant_melanoma | Substitution - coding silent |
c.4315G>A; p.A1439T; 1:26774542-26774542 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.898_899insCGTC; p.P302fs*99; 1:26697301-26697302 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.5953T>C; p.S1985P; 1:26779851-26779851 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Missense |
c.4791C>T; p.N1597N; 1:26775018-26775018 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5953T>C; p.S1985P; 1:26779851-26779851 |
endometrium; ovary | endometriosis | Substitution - Missense |
c.3961C>T; p.P1321S; 1:26773674-26773674 |
skin | malignant_melanoma | Substitution - Missense |
c.4417C>T; p.Q1473*; 1:26774644-26774644 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.6227_6228insC; p.E2078fs*21; 1:26780125-26780126 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.3961C>T; p.P1321S; 1:26773674-26773674 |
skin | malignant_melanoma | Substitution - Missense |
c.2291_2291delC; p.Q766fs*67; 1:26762191-26762191 |
ovary | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.3142C>T; p.P1048S; 1:26767943-26767943 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6341C>T; p.P2114L; 1:26780239-26780239 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6341C>T; p.P2114L; 1:26780239-26780239 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3972delC; p.P1326fs*155; 1:26773685-26773685 |
liver | carcinoma | Deletion - Frameshift |
c.3257_3264delGCAGTGCT; p.S1087fs*15; 1:26771177-26771184 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.3156T>A; p.Y1052*; 1:26767957-26767957 |
stomach | adenocarcinoma | Substitution - Nonsense |
c.2331C>T; p.S777S; 1:26762231-26762231 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3137G>A; p.R1046K; 1:26767938-26767938 |
liver | carcinoma | Substitution - Missense |
c.3916C>T; p.Q1306*; 1:26773629-26773629 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3972delC; p.P1326fs*155; 1:26773685-26773685 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6103G>A; p.E2035K; 1:26780001-26780001 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.5176G>T; p.E1726*; 1:26779074-26779074 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3137G>A; p.R1046K; 1:26767938-26767938 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3972delC; p.P1326fs*155; 1:26773685-26773685 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.3972delC; p.P1326fs*155; 1:26773685-26773685 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3137G>A; p.R1046K; 1:26767938-26767938 |
liver | carcinoma | Substitution - Missense |
c.1776T>A; p.Y592*; 1:26731577-26731577 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5683G>T; p.E1895*; 1:26779581-26779581 |
liver | carcinoma | Substitution - Nonsense |
c.5683G>T; p.E1895*; 1:26779581-26779581 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.3736A>T; p.M1246L; 1:26773366-26773366 |
prostate | carcinoma | Substitution - Missense |
c.5980delG; p.V1994fs*21; 1:26779878-26779878 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.4017_4018delTG; p.Y1339fs*1; 1:26773814-26773815 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Deletion - Frameshift |
c.3416G>T; p.G1139V; 1:26772509-26772509 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1776T>A; p.Y592*; 1:26731577-26731577 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5329G>A; p.E1777K; 1:26779227-26779227 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5683G>T; p.E1895*; 1:26779581-26779581 |
liver | carcinoma | Substitution - Nonsense |
c.6816A>G; p.S2272S; 1:26780714-26780714 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3228_3229insG; p.A1077fs*28; 1:26771148-26771149 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1650_1651insC; p.Y551fs*72; 1:26731451-26731452 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.6700_6702delGCT; p.A2235delA; 1:26780598-26780600 |
liver | carcinoma | Deletion - In frame |
c.1650_1651insC; p.Y551fs*72; 1:26731451-26731452 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.3210_3211insA; p.W1073fs*32; 1:26771130-26771131 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2144C>T; p.S715L; 1:26761079-26761079 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6791C>G; p.S2264*; 1:26780689-26780689 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.1504C>T; p.Q502*; 1:26731305-26731305 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4060delT; p.F1354fs*127; 1:26773857-26773857 |
liver | carcinoma | Deletion - Frameshift |
c.3854_3855insA; p.Y1285fs*1; 1:26773484-26773485 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.2190T>C; p.S730S; 1:26761412-26761412 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.6716T>C; p.L2239P; 1:26780614-26780614 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.120_145del26; p.A41fs*61; 1:26696523-26696548 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.5305_5305delC; p.L1769fs*1; 1:26779203-26779203 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.4399delC; p.P1468fs*13; 1:26774626-26774626 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6045delC; p.L2016fs*14; 1:26779943-26779943 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2944_2946delAAC; p.N982del; 1:26766522-26766524 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.6716T>C; p.L2239P; 1:26780614-26780614 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6747_6748delAG; p.E2250fs*27; 1:26780645-26780646 |
liver | carcinoma | Deletion - Frameshift |
c.2754G>T; p.M918I; 1:26766242-26766242 |
kidney | other; neoplasm | Substitution - Missense |
c.2064C>T; p.H688H; 1:26760999-26760999 |
skin | malignant_melanoma | Substitution - coding silent |
c.2064C>T; p.H688H; 1:26760999-26760999 |
skin | malignant_melanoma | Substitution - coding silent |
c.2064C>T; p.H688H; 1:26760999-26760999 |
skin | malignant_melanoma | Substitution - coding silent |
c.1803+2T>C; p.?; 1:26731606-26731606 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.6706C>T; p.R2236C; 1:26780604-26780604 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3269G>T; p.S1090I; 1:26771189-26771189 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1797_1798insC; p.Q601fs*22; 1:26731598-26731599 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.2208C>T; p.I736I; 1:26761430-26761430 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.3442_3442delC; p.Q1148fs*13; 1:26772535-26772535 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.5212G>A; p.D1738N; 1:26779110-26779110 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2644G>T; p.G882W; 1:26763197-26763197 |
breast | carcinoma | Substitution - Missense |
c.2308G>A; p.A770T; 1:26762208-26762208 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6311C>T; p.S2104F; 1:26780209-26780209 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.3662T>C; p.M1221T; 1:26772934-26772934 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3292C>T; p.Q1098*; 1:26771212-26771212 |
pancreas | carcinoma | Substitution - Nonsense |
c.3744A>C; p.S1248S; 1:26773374-26773374 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1398_1398delC; p.Q467fs*152; 1:26731199-26731199 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.6311C>T; p.S2104F; 1:26780209-26780209 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3744A>C; p.S1248S; 1:26773374-26773374 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5123A>G; p.Q1708R; 1:26775706-26775706 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4227_4228insCC; p.Q1411fs*71; 1:26774454-26774455 |
oesophagus | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.4070A>T; p.Q1357L; 1:26773867-26773867 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1585C>T; p.Q529*; 1:26731386-26731386 |
pancreas | carcinoma | Substitution - Nonsense |
c.2368C>T; p.Q790*; 1:26762268-26762268 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.974delC; p.G326fs*37; 1:26697377-26697377 |
liver | carcinoma | Deletion - Frameshift |
c.2368C>T; p.Q790*; 1:26762268-26762268 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2468_2469insTA; p.P824fs*10; 1:26763021-26763022 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.5334A>G; p.E1778E; 1:26779232-26779232 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6066A>C; p.P2022P; 1:26779964-26779964 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2368C>T; p.Q790*; 1:26762268-26762268 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.1323_1323delC; p.M442fs*177; 1:26729836-26729836 |
breast | carcinoma | Deletion - Frameshift |
c.1585C>T; p.Q529*; 1:26731386-26731386 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.6703_6704insC; p.R2236fs*42; 1:26780601-26780602 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.4709_4712delCTAA; p.N1571fs*40; 1:26774936-26774939 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.4024C>T; p.Q1342*; 1:26773821-26773821 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1688A>G; p.Q563R; 1:26731489-26731489 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1258C>T; p.Q420*; 1:26729771-26729771 |
pancreas | carcinoma | Substitution - Nonsense |
c.1906C>T; p.P636S; 1:26732778-26732778 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6710_6711insT; p.L2238fs*40; 1:26780608-26780609 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.4165T>A; p.Y1389N; 1:26774392-26774392 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010delG; p.A339fs*24; 1:26697413-26697413 |
liver | carcinoma | Deletion - Frameshift |
c.6472C>T; p.R2158*; 1:26780370-26780370 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.6472C>T; p.R2158*; 1:26780370-26780370 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.6472C>T; p.R2158*; 1:26780370-26780370 |
skin | malignant_melanoma | Substitution - Nonsense |
c.6472C>T; p.R2158*; 1:26780370-26780370 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6403_6408delATTCTG; p.I2135_L2136del; 1:26780301-26780306 |
lung | carcinoma; large_cell_carcinoma | Deletion - In frame |
c.4367C>T; p.P1456L; 1:26774594-26774594 |
skin; subungual | malignant_melanoma; acral_lentiginous | Substitution - Missense |
c.6403_6408delATTCTG; p.I2135_L2136del; 1:26780301-26780306 |
lung | carcinoma | Deletion - In frame |
c.5856delC; p.K1953fs*3; 1:26779754-26779754 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.6472C>T; p.R2158*; 1:26780370-26780370 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.4367C>T; p.P1456L; 1:26774594-26774594 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.5749A>G; p.T1917A; 1:26779647-26779647 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.6472C>T; p.R2158*; 1:26780370-26780370 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1606T>C; p.S536P; 1:26731407-26731407 |
breast | carcinoma | Substitution - Missense |
c.6659A>G; p.N2220S; 1:26780557-26780557 |
kidney | Wilms_tumour | Substitution - Missense |
c.2180_2189del10; p.R727fs*12; 1:26761402-26761411 |
stomach | carcinoma; diffuse_adenocarcinoma | Deletion - Frameshift |
c.3634_3644del11; p.Q1212fs*4; 1:26772906-26772916 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.2132C>G; p.S711*; 1:26761067-26761067 |
breast | carcinoma | Substitution - Nonsense |
c.3391_3391delC; p.Q1131fs*30; 1:26771311-26771311 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.1876G>T; p.E626*; 1:26732748-26732748 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.3211delA; p.K1072fs*21; 1:26771131-26771131 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1687C>T; p.Q563*; 1:26731488-26731488 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3211delA; p.K1072fs*21; 1:26771131-26771131 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3211delA; p.K1072fs*21; 1:26771131-26771131 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5532G>A; p.W1844*; 1:26779430-26779430 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.4891C>T; p.Q1631*; 1:26775118-26775118 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1687C>T; p.Q563*; 1:26731488-26731488 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5532G>A; p.W1844*; 1:26779430-26779430 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Nonsense |
c.2518C>T; p.Q840*; 1:26763071-26763071 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3319A>G; p.I1107V; 1:26771239-26771239 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1338_1339delTT; p.Q449fs*173; 1:26729851-26729852 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6789A>G; p.V2263V; 1:26780687-26780687 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3519_3519delC; p.P1175fs*5; 1:26772612-26772612 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.6507_6508insCTG; p.L2171_A2172insL; 1:26780405-26780406 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - In frame |
c.5165G>T; p.R1722L; 1:26779063-26779063 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5165G>T; p.R1722L; 1:26779063-26779063 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2327C>T; p.P776L; 1:26762227-26762227 |
skin | malignant_melanoma | Substitution - Missense |
c.407_410delCTCA; p.H137fs*94; 1:26696810-26696813 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Deletion - Frameshift |
c.6469G>A; p.D2157N; 1:26780367-26780367 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5560C>T; p.H1854Y; 1:26779458-26779458 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5560C>T; p.H1854Y; 1:26779458-26779458 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5296G>T; p.E1766*; 1:26779194-26779194 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.5542_5543insG; p.D1850fs*4; 1:26779440-26779441 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.5335G>A; p.E1779K; 1:26779233-26779233 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5542_5543insG; p.D1850fs*4; 1:26779440-26779441 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.5542_5543insG; p.D1850fs*4; 1:26779440-26779441 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.1185T>A; p.Y395*; 1:26729698-26729698 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.3334G>C; p.D1112H; 1:26771254-26771254 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1530G>A; p.Q510Q; 1:26731331-26731331 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.315_334del20; p.N106fs*4; 1:26696718-26696737 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.5839C>T; p.Q1947*; 1:26779737-26779737 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Nonsense |
c.5163A>G; p.R1721R; 1:26779061-26779061 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4624G>T; p.E1542*; 1:26774851-26774851 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.5163A>G; p.R1721R; 1:26779061-26779061 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3163T>C; p.Y1055H; 1:26767964-26767964 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4421delA; p.N1475fs*6; 1:26774648-26774648 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1029_1043del15; p.A344_A348del; 1:26697432-26697446 |
stomach | adenocarcinoma | Deletion - In frame |
c.220C>T; p.Q74*; 1:26696623-26696623 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Nonsense |
c.4624G>T; p.E1542*; 1:26774851-26774851 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.1138-1_1138insCCAT; p.S382fs*19; 1:26729650-26729651 |
liver | carcinoma | Unknown |
c.1029_1043del15; p.A344_A348del; 1:26697432-26697446 |
ovary | carcinoma; endometrioid_carcinoma | Deletion - In frame |
c.5884_5885insTA; p.K1962fs*54; 1:26779782-26779783 |
urinary_tract; bladder | carcinoma | Insertion - Frameshift |
c.404_404delC; p.P135fs*97; 1:26696807-26696807 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.1850C>G; p.S617*; 1:26732722-26732722 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.6259G>A; p.G2087R; 1:26780157-26780157 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1850C>G; p.S617*; 1:26732722-26732722 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.6259G>A; p.G2087R; 1:26780157-26780157 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.879_880insC; p.T294fs*106; 1:26697282-26697283 |
stomach | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.5995_5996delTT; p.F1999fs*1; 1:26779893-26779894 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.6259G>A; p.G2087R; 1:26780157-26780157 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5680C>T; p.Q1894*; 1:26779578-26779578 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1441C>T; p.Q481*; 1:26731242-26731242 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.6259G>A; p.G2087R; 1:26780157-26780157 |
breast | carcinoma | Substitution - Missense |
c.6259G>A; p.G2087R; 1:26780157-26780157 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1850C>G; p.S617*; 1:26732722-26732722 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1663C>T; p.Q555*; 1:26731464-26731464 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.3994C>T; p.Q1332*; 1:26773707-26773707 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.1441C>T; p.Q481*; 1:26731242-26731242 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1873C>T; p.Q625*; 1:26732745-26732745 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.4591G>T; p.E1531*; 1:26774818-26774818 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.2317C>T; p.P773S; 1:26762217-26762217 |
skin; ankle | malignant_melanoma; acral_lentiginous | Substitution - Missense |
c.2317C>T; p.P773S; 1:26762217-26762217 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3469G>T; p.G1157*; 1:26772562-26772562 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3597C>T; p.F1199F; 1:26772869-26772869 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3562C>T; p.Q1188*; 1:26772834-26772834 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.4972C>T; p.R1658W; 1:26775199-26775199 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2180_2189delGGCCACCCAG; p.R727fs*12; 1:26761402-26761411 |
breast | carcinoma | Deletion - Frameshift |
c.5122C>T; p.Q1708*; 1:26775705-26775705 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.5122C>T; p.Q1708*; 1:26775705-26775705 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.3469G>T; p.G1157*; 1:26772562-26772562 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3562C>T; p.Q1188*; 1:26772834-26772834 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1678T>A; p.Y560N; 1:26731479-26731479 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1678T>A; p.Y560N; 1:26731479-26731479 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1379_1380insGC; p.S460fs*160; 1:26731180-26731181 |
stomach | carcinoma; diffuse_adenocarcinoma | Insertion - Frameshift |
c.6767C>G; p.S2256*; 1:26780665-26780665 |
liver | carcinoma | Substitution - Nonsense |
c.5882G>A; p.S1961N; 1:26779780-26779780 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.286_296del11; p.A96fs*11; 1:26696689-26696699 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.1896_1899delTCAG; p.S634fs*12; 1:26732768-26732771 |
liver | carcinoma | Deletion - Frameshift |
c.540C>T; p.G180G; 1:26696943-26696943 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1896_1899delTCAG; p.S634fs*12; 1:26732768-26732771 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.6767C>G; p.S2256*; 1:26780665-26780665 |
liver | carcinoma | Substitution - Nonsense |
c.6767C>G; p.S2256*; 1:26780665-26780665 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2879-2A>G; p.?; 1:26766455-26766455 |
liver | carcinoma | Unknown |
c.6343C>T; p.Q2115*; 1:26780241-26780241 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4250delA; p.A1418fs*63; 1:26774477-26774477 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2457_2458insC; p.N820fs*52; 1:26763010-26763011 |
liver | carcinoma; hepatocellular_carcinoma | Insertion - Frameshift |
c.6773T>G; p.L2258R; 1:26780671-26780671 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5844_5845insACAGAGC; p.H1949fs*16; 1:26779742-26779743 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1292C>A; p.P431Q; 1:26729805-26729805 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.46_48delCCG; p.P21delP; 1:26696449-26696451 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.4003C>T; p.R1335*; 1:26773716-26773716 |
breast | carcinoma | Substitution - Nonsense |
c.6251T>A; p.V2084D; 1:26780149-26780149 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.4001_4002insGCA; p.Q1334_R1335insQ; 1:26773714-26773715 |
prostate | carcinoma | Insertion - In frame |
c.4003C>T; p.R1335*; 1:26773716-26773716 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3059G>A; p.R1020K; 1:26767860-26767860 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4003C>T; p.R1335*; 1:26773716-26773716 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.6251T>A; p.V2084D; 1:26780149-26780149 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.4841A>G; p.Q1614R; 1:26775068-26775068 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3059G>A; p.R1020K; 1:26767860-26767860 |
pancreas | carcinoma | Substitution - Missense |
c.4003C>T; p.R1335*; 1:26773716-26773716 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5497C>T; p.R1833C; 1:26779395-26779395 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4001_4002insGCA; p.Q1334_R1335insQ; 1:26773714-26773715 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - In frame |
c.4003C>T; p.R1335*; 1:26773716-26773716 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.4841A>G; p.Q1614R; 1:26775068-26775068 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1043C>A; p.A348D; 1:26697817-26697817 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.6106G>T; p.E2036*; 1:26780004-26780004 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4003C>T; p.R1335*; 1:26773716-26773716 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5542G>T; p.G1848W; 1:26779440-26779440 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4003C>T; p.R1335*; 1:26773716-26773716 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2173_2179delCCACCTC; p.P725fs*15; 1:26761395-26761401 |
breast | carcinoma | Deletion - Frameshift |
c.2181_2186delGCCACC; p.P728_P729delPP; 1:26761403-26761408 |
breast | carcinoma | Deletion - In frame |
c.3281_3282insA; p.Q1095fs*10; 1:26771201-26771202 |
liver | carcinoma; hepatocellular_carcinoma | Insertion - Frameshift |
c.4003C>T; p.R1335*; 1:26773716-26773716 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.4003C>T; p.R1335*; 1:26773716-26773716 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.214G>T; p.E72*; 1:26696617-26696617 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.5999A>T; p.E2000V; 1:26779897-26779897 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3199-1G>T; p.?; 1:26771118-26771118 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.3059G>A; p.R1020K; 1:26767860-26767860 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4003C>T; p.R1335*; 1:26773716-26773716 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4003C>T; p.R1335*; 1:26773716-26773716 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4689_4689delC; p.M1564fs*1; 1:26774916-26774916 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4243_4244insCAGC; p.Q1415fs*31; 1:26774470-26774471 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.4091A>T; p.Q1364L; 1:26773888-26773888 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.6139G>T; p.E2047*; 1:26780037-26780037 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.4202A>C; p.Q1401P; 1:26774429-26774429 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.13_14ins28; p.V5fs*115; 1:26696416-26696417 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.6139G>T; p.E2047*; 1:26780037-26780037 |
endometrium; ovary | endometriosis | Substitution - Nonsense |
c.6139G>T; p.E2047*; 1:26780037-26780037 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1689G>T; p.Q563H; 1:26731490-26731490 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4582C>T; p.R1528*; 1:26774809-26774809 |
pancreas | carcinoma | Substitution - Nonsense |
c.2836delC; p.P947fs*21; 1:26766324-26766324 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4582C>T; p.R1528*; 1:26774809-26774809 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1627C>T; p.Q543*; 1:26731428-26731428 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.4582C>T; p.R1528*; 1:26774809-26774809 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Nonsense |
c.4582C>T; p.R1528*; 1:26774809-26774809 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.1627C>T; p.Q543*; 1:26731428-26731428 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.1627C>T; p.Q543*; 1:26731428-26731428 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2608C>A; p.P870T; 1:26763161-26763161 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.5899_5900insTG; p.T1969fs*47; 1:26779797-26779798 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.2608C>A; p.P870T; 1:26763161-26763161 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.3949G>T; p.G1317W; 1:26773662-26773662 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1655C>T; p.S552L; 1:26731456-26731456 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4686C>T; p.P1562P; 1:26774913-26774913 |
skin | malignant_melanoma | Substitution - coding silent |
c.6630G>C; p.Q2210H; 1:26780528-26780528 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4524T>A; p.Y1508*; 1:26774751-26774751 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2102G>C; p.G701A; 1:26761037-26761037 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1806G>T; p.E602D; 1:26732678-26732678 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5705C>T; p.P1902L; 1:26779603-26779603 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2296C>T; p.Q766*; 1:26762196-26762196 |
liver | carcinoma | Substitution - Nonsense |
c.2296C>T; p.Q766*; 1:26762196-26762196 |
pancreas | carcinoma | Substitution - Nonsense |
c.2296C>T; p.Q766*; 1:26762196-26762196 |
liver | carcinoma | Substitution - Nonsense |
c.3353_3354insTG; p.A1119fs*43; 1:26771273-26771274 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.6263T>A; p.L2088H; 1:26780161-26780161 |
kidney | Wilms_tumour | Substitution - Missense |
c.4011_4012delTT; p.S1338fs*106; 1:26773808-26773809 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.6418_6428del11; p.F2141fs*5; 1:26780316-26780326 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2519A>G; p.Q840R; 1:26763072-26763072 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2296_2297insC; p.Q766fs*51; 1:26762196-26762197 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.4750C>T; p.Q1584*; 1:26774977-26774977 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.6641G>C; p.S2214T; 1:26780539-26780539 |
stomach | adenocarcinoma | Substitution - Missense |
c.6641G>C; p.S2214T; 1:26780539-26780539 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.4750C>T; p.Q1584*; 1:26774977-26774977 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.2179_2188del10; p.R727fs*12; 1:26761401-26761410 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.4750C>T; p.Q1584*; 1:26774977-26774977 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.4011_4012delTT; p.S1338fs*106; 1:26773808-26773809 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.3514C>T; p.Q1172*; 1:26772607-26772607 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.516A>C; p.Q172H; 1:26696919-26696919 |
thyroid | other; neoplasm | Substitution - Missense |
c.3223delG; p.E1075fs*18; 1:26771143-26771143 |
autonomic_ganglia | neuroblastoma | Deletion - Frameshift |
c.4394C>G; p.S1465C; 1:26774621-26774621 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4380C>T; p.G1460G; 1:26774607-26774607 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1473C>A; p.S491S; 1:26731274-26731274 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2179_2194del16; p.R727fs*10; 1:26761401-26761416 |
liver | carcinoma | Deletion - Frameshift |
c.4833_4834insA; p.M1613fs*35; 1:26775060-26775061 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1567T>C; p.S523P; 1:26731368-26731368 |
thyroid | other; neoplasm | Substitution - Missense |
c.4735C>T; p.Q1579*; 1:26774962-26774962 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1897C>T; p.Q633*; 1:26732769-26732769 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1897C>T; p.Q633*; 1:26732769-26732769 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.6529G>A; p.G2177R; 1:26780427-26780427 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1583A>T; p.Q528L; 1:26731384-26731384 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1897C>T; p.Q633*; 1:26732769-26732769 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.6685G>T; p.D2229Y; 1:26780583-26780583 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1897C>T; p.Q633*; 1:26732769-26732769 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1897C>T; p.Q633*; 1:26732769-26732769 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.3391C>T; p.Q1131*; 1:26771311-26771311 |
skin; leg | malignant_melanoma | Substitution - Nonsense |
c.3977_3978insGCA; p.Q1334_R1335insQ; 1:26773690-26773691 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - In frame |
c.532A>T; p.S178C; 1:26696935-26696935 |
pancreas | carcinoma | Substitution - Missense |
c.3391C>T; p.Q1131*; 1:26771311-26771311 |
skin; leg | malignant_melanoma | Substitution - Nonsense |
c.585C>A; p.Y195*; 1:26696988-26696988 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.827_827delG; p.G276fs*87; 1:26697230-26697230 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2275A>G; p.M759V; 1:26762175-26762175 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2567G>T; p.G856V; 1:26763120-26763120 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3391C>T; p.Q1131*; 1:26771311-26771311 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.4477C>T; p.Q1493*; 1:26774704-26774704 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.5197G>T; p.E1733*; 1:26779095-26779095 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.4477C>T; p.Q1493*; 1:26774704-26774704 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.4910G>A; p.R1637Q; 1:26775137-26775137 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.3795C>T; p.G1265G; 1:26773425-26773425 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.4910G>A; p.R1637Q; 1:26775137-26775137 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3795C>T; p.G1265G; 1:26773425-26773425 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.6423_6430delCAGCCGCC; p.S2142fs*5; 1:26780321-26780328 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.3635A>T; p.Q1212L; 1:26772907-26772907 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.4555_4556insC; p.Q1519fs*13; 1:26774782-26774783 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.6191T>C; p.L2064P; 1:26780089-26780089 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.4477C>T; p.Q1493*; 1:26774704-26774704 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.5197G>T; p.E1733*; 1:26779095-26779095 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.5197G>T; p.E1733*; 1:26779095-26779095 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5197G>T; p.E1733*; 1:26779095-26779095 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4856C>T; p.P1619L; 1:26775083-26775083 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1138-1G>T; p.?; 1:26729650-26729650 |
pancreas | carcinoma | Unknown |
c.2021delG; p.S674fs*68; 1:26760956-26760956 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.5172G>C; p.L1724L; 1:26779070-26779070 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5162G>A; p.R1721Q; 1:26779060-26779060 |
large_intestine; rectum | NS | Substitution - Missense |
c.1469C>T; p.P490L; 1:26731270-26731270 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.885_888delCAAC; p.Q297fs*65; 1:26697288-26697291 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.1643A>G; p.Q548R; 1:26731444-26731444 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4166A>G; p.Y1389C; 1:26774393-26774393 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3430C>T; p.P1144S; 1:26772523-26772523 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1165A>C; p.K389Q; 1:26729678-26729678 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2999_3000insT; p.S1001fs*6; 1:26767800-26767801 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.2397delG; p.G801fs*32; 1:26762297-26762297 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.4217C>G; p.P1406R; 1:26774444-26774444 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3970_3971insA; p.Y1324fs*1; 1:26773683-26773684 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.4403_4403delC; p.P1468fs*13; 1:26774630-26774630 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.608_609insA; p.H203fs*197; 1:26697011-26697012 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.6415delC; p.F2141fs*59; 1:26780313-26780313 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.6415delC; p.F2141fs*59; 1:26780313-26780313 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1010_1010delG; p.A339fs*24; 1:26697784-26697784 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.6415delC; p.F2141fs*59; 1:26780313-26780313 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5239C>T; p.P1747S; 1:26779137-26779137 |
skin | malignant_melanoma | Substitution - Missense |
c.6415delC; p.F2141fs*59; 1:26780313-26780313 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6415delC; p.F2141fs*59; 1:26780313-26780313 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1520A>G; p.Q507R; 1:26731321-26731321 |
pancreas | carcinoma | Substitution - Missense |
c.2122C>T; p.Q708*; 1:26761057-26761057 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Nonsense |
c.6415delC; p.F2141fs*59; 1:26780313-26780313 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.6415delC; p.F2141fs*59; 1:26780313-26780313 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6415delC; p.F2141fs*59; 1:26780313-26780313 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1282C>T; p.Q428*; 1:26729795-26729795 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.5303T>C; p.L1768P; 1:26779201-26779201 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.6076C>T; p.Q2026*; 1:26779974-26779974 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.2803_2804insAATA; p.N935fs*2; 1:26766291-26766292 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.3424C>T; p.Q1142*; 1:26772517-26772517 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.6076C>T; p.Q2026*; 1:26779974-26779974 |
pancreas | carcinoma | Substitution - Nonsense |
c.2750A>G; p.N917S; 1:26766238-26766238 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.3424C>T; p.Q1142*; 1:26772517-26772517 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6747_6748insA; p.E2250fs*28; 1:26780645-26780646 |
stomach | carcinoma; diffuse_adenocarcinoma | Insertion - Frameshift |
c.1664A>T; p.Q555L; 1:26731465-26731465 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5779_5780insCT; p.K1928fs*29; 1:26779677-26779678 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.6270C>G; p.H2090Q; 1:26780168-26780168 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.3979C>T; p.Q1327*; 1:26773692-26773692 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5219G>T; p.G1740V; 1:26779117-26779117 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6410delC; p.T2138fs*62; 1:26780308-26780308 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.1891_1897delAGCCTTC; p.L632fs*13; 1:26732763-26732769 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4337G>A; p.R1446Q; 1:26774564-26774564 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2179_2188delCGGCCACCCA; p.R727fs*12; 1:26761401-26761410 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.1169_1170insT; p.M390fs*10; 1:26729682-26729683 |
liver | carcinoma; hepatocellular_carcinoma | Insertion - Frameshift |
c.3247G>T; p.G1083C; 1:26771167-26771167 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1169_1170insT; p.M390fs*10; 1:26729682-26729683 |
liver | carcinoma; hepatocellular_carcinoma | Insertion - Frameshift |
c.2165_2171delACCAGAT; p.N722fs*18; 1:26761387-26761393 |
ovary | low_malignant_potential_(borderline)_tumour; mucinous | Deletion - Frameshift |
c.2252-1G>T; p.?; 1:26762151-26762151 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.4494G>A; p.W1498*; 1:26774721-26774721 |
liver | carcinoma | Substitution - Nonsense |
c.3832C>T; p.H1278Y; 1:26773462-26773462 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1592C>T; p.P531L; 1:26731393-26731393 |
breast | carcinoma | Substitution - Missense |
c.4847C>T; p.A1616V; 1:26775074-26775074 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.2581G>C; p.A861P; 1:26763134-26763134 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2772delG; p.G925fs*16; 1:26766260-26766260 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.2878delG; p.M961fs*7; 1:26766366-26766366 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Deletion - Frameshift |
c.2292C>T; p.S764S; 1:26762192-26762192 |
skin | malignant_melanoma | Substitution - coding silent |
c.1592C>T; p.P531L; 1:26731393-26731393 |
skin | malignant_melanoma | Substitution - Missense |
c.4494G>A; p.W1498*; 1:26774721-26774721 |
liver | carcinoma | Substitution - Nonsense |
c.5701G>T; p.G1901*; 1:26779599-26779599 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.6260G>A; p.G2087E; 1:26780158-26780158 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.6260G>A; p.G2087E; 1:26780158-26780158 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.6260G>A; p.G2087E; 1:26780158-26780158 |
stomach | adenocarcinoma | Substitution - Missense |
c.6265C>A; p.L2089I; 1:26780163-26780163 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2772delG; p.G925fs*16; 1:26766260-26766260 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.3999_4001delGCA; p.Q1334del; 1:26773712-26773714 |
prostate | carcinoma; adenocarcinoma | Deletion - In frame |
c.3826C>T; p.R1276*; 1:26773456-26773456 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Nonsense |
c.3826C>T; p.R1276*; 1:26773456-26773456 |
stomach | adenocarcinoma | Substitution - Nonsense |
c.3826C>T; p.R1276*; 1:26773456-26773456 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.1140A>G; p.P380P; 1:26729653-26729653 |
skin | malignant_melanoma | Substitution - coding silent |
c.3826C>T; p.R1276*; 1:26773456-26773456 |
pancreas | NS | Substitution - Nonsense |
c.3826C>T; p.R1276*; 1:26773456-26773456 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3826C>T; p.R1276*; 1:26773456-26773456 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3826C>T; p.R1276*; 1:26773456-26773456 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3826C>T; p.R1276*; 1:26773456-26773456 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.3826C>T; p.R1276*; 1:26773456-26773456 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Nonsense |
c.490_497delGCCGCGGC; p.A164fs*233; 1:26696893-26696900 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.2197_2198insC; p.D734fs*83; 1:26761419-26761420 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.6310T>C; p.S2104P; 1:26780208-26780208 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3826C>T; p.R1276*; 1:26773456-26773456 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; lymphoplasmacytic_lymphoma | Substitution - Nonsense |
c.3826C>T; p.R1276*; 1:26773456-26773456 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Substitution - Nonsense |
c.2542C>T; p.P848S; 1:26763095-26763095 |
breast | carcinoma | Substitution - Missense |
c.5338G>T; p.E1780*; 1:26779236-26779236 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.5643_5652del10; p.H1881fs*39; 1:26779541-26779550 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.2530C>T; p.Q844*; 1:26763083-26763083 |
liver | carcinoma | Substitution - Nonsense |
c.2929_2932delCCAG; p.A978fs*3; 1:26766507-26766510 |
pancreas | carcinoma | Deletion - Frameshift |
c.5338G>T; p.E1780*; 1:26779236-26779236 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.5338G>T; p.E1780*; 1:26779236-26779236 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.2530C>T; p.Q844*; 1:26763083-26763083 |
liver | carcinoma | Substitution - Nonsense |
c.5841_5842insAGCACAG; p.H1949fs*16; 1:26779739-26779740 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2929_2932delCCAG; p.A978fs*3; 1:26766507-26766510 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.3862G>A; p.V1288M; 1:26773492-26773492 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3219G>A; p.W1073*; 1:26771139-26771139 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5290G>T; p.E1764*; 1:26779188-26779188 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3467A>G; p.E1156G; 1:26772560-26772560 |
liver | carcinoma | Substitution - Missense |
c.6228C>A; p.Y2076*; 1:26780126-26780126 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6228C>A; p.Y2076*; 1:26780126-26780126 |
breast | carcinoma | Substitution - Nonsense |
c.3219G>A; p.W1073*; 1:26771139-26771139 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3467A>G; p.E1156G; 1:26772560-26772560 |
liver | carcinoma | Substitution - Missense |