| General information | Literature | Expression | lncRNA |Regulation | Mutation | Homolog | Interaction |
Basic Information | |||
|---|---|---|---|
Gene ID | 23613 | ||
Name | ZMYND8 | ||
The somatic mutations from COSMIC database | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.3186G>T; p.G1062G; 20:47221407-47221407 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2433C>T; p.A811A; 20:47238990-47238990 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2354G>A; p.R785H; 20:47239069-47239069 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.304C>T; p.P102S; 20:47298878-47298878 |
skin | malignant_melanoma | Substitution - Missense |
c.2162T>C; p.V721A; 20:47246130-47246130 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2162T>C; p.V721A; 20:47246130-47246130 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.978A>G; p.R326R; 20:47282122-47282122 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2162T>C; p.V721A; 20:47246130-47246130 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3033T>G; p.F1011L; 20:47224402-47224402 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2162T>C; p.V721A; 20:47246130-47246130 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2162T>C; p.V721A; 20:47246130-47246130 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2162T>C; p.V721A; 20:47246130-47246130 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2162T>C; p.V721A; 20:47246130-47246130 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3197G>A; p.S1066N; 20:47221396-47221396 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3055T>C; p.Y1019H; 20:47224380-47224380 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1542C>G; p.F514L; 20:47262367-47262367 |
breast | carcinoma | Substitution - Missense |
c.2193C>T; p.S731S; 20:47246099-47246099 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.588C>T; p.P196P; 20:47291868-47291868 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.469G>A; p.E157K; 20:47294764-47294764 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.588C>T; p.P196P; 20:47291868-47291868 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.588C>T; p.P196P; 20:47291868-47291868 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1348C>T; p.P450S; 20:47276446-47276446 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1348C>T; p.P450S; 20:47276446-47276446 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3431-3C>T; p.?; 20:47210900-47210900 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1952C>T; p.A651V; 20:47246340-47246340 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2097A>C; p.A699A; 20:47246195-47246195 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2927G>A; p.R976Q; 20:47224508-47224508 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2191A>G; p.S731G; 20:47246101-47246101 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1879G>A; p.E627K; 20:47246413-47246413 |
liver | carcinoma | Substitution - Missense |
c.1914G>T; p.E638D; 20:47246378-47246378 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1879G>A; p.E627K; 20:47246413-47246413 |
liver | carcinoma | Substitution - Missense |
c.1805C>T; p.T602M; 20:47246487-47246487 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1464C>T; p.F488F; 20:47276330-47276330 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1124G>T; p.R375M; 20:47276670-47276670 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3280-1G>C; p.?; 20:47220325-47220325 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.1873G>T; p.D625Y; 20:47246419-47246419 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.254C>T; p.P85L; 20:47298928-47298928 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3007_3008GC>TT; p.A1003F; 20:47224427-47224428 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1982delC; p.P661fs*8; 20:47246310-47246310 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.254C>T; p.P85L; 20:47298928-47298928 |
skin | malignant_melanoma | Substitution - Missense |
c.1316delG; p.G439fs*16; 20:47276478-47276478 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2337A>C; p.E779D; 20:47239086-47239086 |
skin | malignant_melanoma | Substitution - Missense |
c.407G>T; p.R136I; 20:47298775-47298775 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3045G>A; p.W1015*; 20:47224390-47224390 |
skin | malignant_melanoma | Substitution - Nonsense |
c.853A>C; p.K285Q; 20:47283600-47283600 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2411C>T; p.T804M; 20:47239012-47239012 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1652A>T; p.E551V; 20:47249409-47249409 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3486G>A; p.S1162S; 20:47210842-47210842 |
pancreas | carcinoma | Substitution - coding silent |
c.2013G>C; p.T671T; 20:47246279-47246279 |
pancreas | carcinoma | Substitution - coding silent |
c.3486G>A; p.S1162S; 20:47210842-47210842 |
pancreas | carcinoma | Substitution - coding silent |
c.1491C>T; p.A497A; 20:47262418-47262418 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1437C>A; p.F479L; 20:47276357-47276357 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1334_1335CC>TT; p.S445F; 20:47276459-47276460 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3449A>C; p.K1150T; 20:47210879-47210879 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1216G>A; p.A406T; 20:47276578-47276578 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.322G>T; p.D108Y; 20:47298860-47298860 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1341G>A; p.S447S; 20:47276453-47276453 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.69C>T; p.I23I; 20:47347872-47347872 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3545G>A; p.R1182Q; 20:47210783-47210783 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.749-1G>A; p.?; 20:47287285-47287285 |
skin | malignant_melanoma | Unknown |
c.3177C>T; p.S1059S; 20:47221416-47221416 |
skin | malignant_melanoma | Substitution - coding silent |
c.1387G>T; p.G463C; 20:47276407-47276407 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1811T>C; p.V604A; 20:47246481-47246481 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3130C>T; p.Q1044*; 20:47221463-47221463 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1800C>G; p.V600V; 20:47246492-47246492 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.231G>A; p.E77E; 20:47310059-47310059 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2800-3C>T; p.?; 20:47227284-47227284 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Unknown |
c.1691C>A; p.P564H; 20:47249370-47249370 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2335G>A; p.E779K; 20:47239088-47239088 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1259A>T; p.N420I; 20:47276535-47276535 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.173C>T; p.S58L; 20:47310117-47310117 |
NS | malignant_melanoma | Substitution - Missense |
c.3181C>T; p.Q1061*; 20:47221412-47221412 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1510G>A; p.A504T; 20:47262399-47262399 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2218G>C; p.D740H; 20:47246074-47246074 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.375C>G; p.L125L; 20:47298807-47298807 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3080C>T; p.A1027V; 20:47224355-47224355 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3441G>A; p.R1147R; 20:47210887-47210887 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2155C>T; p.P719S; 20:47246137-47246137 |
skin | malignant_melanoma | Substitution - Missense |
c.872G>A; p.C291Y; 20:47283581-47283581 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3469G>T; p.D1157Y; 20:47210859-47210859 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.119G>T; p.R40I; 20:47310171-47310171 |
breast | carcinoma | Substitution - Missense |
c.1524C>T; p.S508S; 20:47262385-47262385 |
thyroid | carcinoma | Substitution - coding silent |
c.3127C>T; p.P1043S; 20:47221466-47221466 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.655G>T; p.E219*; 20:47291801-47291801 |
skin; mucosal | malignant_melanoma | Substitution - Nonsense |
c.1218C>T; p.A406A; 20:47276576-47276576 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1313G>A; p.G438E; 20:47276481-47276481 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.684C>A; p.G228G; 20:47290251-47290251 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2992A>G; p.K998E; 20:47224443-47224443 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2140G>C; p.D714H; 20:47246152-47246152 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2140G>C; p.D714H; 20:47246152-47246152 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2470C>T; p.P824S; 20:47238953-47238953 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.853A>G; p.K285E; 20:47283600-47283600 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1677G>A; p.Q559Q; 20:47249384-47249384 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2140G>T; p.D714Y; 20:47246152-47246152 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3194C>T; p.S1065L; 20:47221399-47221399 |
oesophagus | carcinoma | Substitution - Missense |
c.1349C>T; p.P450L; 20:47276445-47276445 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2891C>T; p.A964V; 20:47224544-47224544 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1503G>A; p.T501T; 20:47262406-47262406 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.774G>A; p.A258A; 20:47287259-47287259 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2299C>T; p.P767S; 20:47239124-47239124 |
skin | malignant_melanoma | Substitution - Missense |
c.1324C>T; p.R442C; 20:47276470-47276470 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2638G>A; p.V880M; 20:47236406-47236406 |
liver | carcinoma | Substitution - Missense |
c.2638G>A; p.V880M; 20:47236406-47236406 |
liver | carcinoma | Substitution - Missense |
c.3302G>C; p.R1101T; 20:47220302-47220302 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1597G>A; p.G533S; 20:47262312-47262312 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3141G>A; p.A1047A; 20:47221452-47221452 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1312delG; p.G439fs*16; 20:47276482-47276482 |
large_intestine; colon | carcinoma | Deletion - Frameshift |
c.1774+2T>C; p.?; 20:47249285-47249285 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.2439C>T; p.A813A; 20:47238984-47238984 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1173C>T; p.P391P; 20:47276621-47276621 |
prostate | carcinoma | Substitution - coding silent |
c.1512A>G; p.A504A; 20:47262397-47262397 |
kidney | other; neoplasm | Substitution - coding silent |
c.2578C>T; p.L860L; 20:47236466-47236466 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.589G>A; p.V197I; 20:47291867-47291867 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1175A>C; p.N392T; 20:47276619-47276619 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1175A>C; p.N392T; 20:47276619-47276619 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3034delT; p.Y1012fs*22; 20:47224401-47224401 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1687G>C; p.V563L; 20:47249374-47249374 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.3309G>A; p.T1103T; 20:47220295-47220295 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3309G>A; p.T1103T; 20:47220295-47220295 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1718G>A; p.R573H; 20:47249343-47249343 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.679T>A; p.Y227N; 20:47290256-47290256 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.3026C>T; p.A1009V; 20:47224409-47224409 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3026C>T; p.A1009V; 20:47224409-47224409 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2415C>T; p.V805V; 20:47239008-47239008 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2281G>T; p.D761Y; 20:47246011-47246011 |
kidney | other; neoplasm | Substitution - Missense |
c.2643C>G; p.S881S; 20:47236401-47236401 |
oesophagus | carcinoma | Substitution - coding silent |
c.1660G>A; p.E554K; 20:47249401-47249401 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2312C>T; p.T771M; 20:47239111-47239111 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.3164C>T; p.T1055I; 20:47221429-47221429 |
prostate | carcinoma | Substitution - Missense |
c.672G>T; p.K224N; 20:47290263-47290263 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.630C>T; p.F210F; 20:47291826-47291826 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1664C>A; p.S555*; 20:47249397-47249397 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.2229G>A; p.G743G; 20:47246063-47246063 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2229G>A; p.G743G; 20:47246063-47246063 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1532C>T; p.P511L; 20:47262377-47262377 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2564C>T; p.T855M; 20:47236480-47236480 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2564C>T; p.T855M; 20:47236480-47236480 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2564C>T; p.T855M; 20:47236480-47236480 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2074G>C; p.E692Q; 20:47246218-47246218 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1480+3C>T; p.?; 20:47276311-47276311 |
ovary | other; neoplasm | Unknown |
c.788A>G; p.K263R; 20:47287245-47287245 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2074G>C; p.E692Q; 20:47246218-47246218 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3165A>T; p.T1055T; 20:47221428-47221428 |
liver | carcinoma | Substitution - coding silent |
c.3420delC; p.A1141fs*>48; 20:47212652-47212652 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.261C>T; p.Y87Y; 20:47298921-47298921 |
ovary | other; neoplasm | Substitution - coding silent |
c.3108C>A; p.C1036*; 20:47224327-47224327 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.77G>C; p.R26P; 20:47347864-47347864 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2472G>A; p.P824P; 20:47238951-47238951 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1474A>G; p.S492G; 20:47276320-47276320 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2860G>A; p.E954K; 20:47227221-47227221 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2860G>A; p.E954K; 20:47227221-47227221 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2860G>A; p.E954K; 20:47227221-47227221 |
breast | carcinoma | Substitution - Missense |
c.2315T>C; p.V772A; 20:47239108-47239108 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2315T>C; p.V772A; 20:47239108-47239108 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2975C>T; p.A992V; 20:47224460-47224460 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.556A>C; p.K186Q; 20:47294677-47294677 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.1989G>C; p.E663D; 20:47246303-47246303 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2028G>A; p.E676E; 20:47246264-47246264 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2028G>A; p.E676E; 20:47246264-47246264 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.3393_3395delAGA; p.D1132delD; 20:47212677-47212679 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - In frame |
c.2668G>A; p.A890T; 20:47236376-47236376 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.848G>T; p.C283F; 20:47283605-47283605 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.450T>C; p.C150C; 20:47298732-47298732 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2568C>A; p.S856S; 20:47236476-47236476 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.974C>T; p.A325V; 20:47282126-47282126 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.883_884delAG; p.S295fs*24; 20:47282216-47282217 |
stomach | carcinoma; diffuse_adenocarcinoma | Deletion - Frameshift |
c.1120C>T; p.R374C; 20:47276674-47276674 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.686G>T; p.C229F; 20:47290249-47290249 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.343C>T; p.H115Y; 20:47298839-47298839 |
skin | malignant_melanoma | Substitution - Missense |
c.2512G>A; p.V838M; 20:47238911-47238911 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1718G>C; p.R573P; 20:47249343-47249343 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1442C>T; p.A481V; 20:47276352-47276352 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.648T>C; p.C216C; 20:47291808-47291808 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2423C>T; p.T808M; 20:47239000-47239000 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.3119-9T>C; p.?; 20:47221483-47221483 |
pancreas | carcinoma | Unknown |
c.2423C>T; p.T808M; 20:47239000-47239000 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2705A>T; p.K902M; 20:47236339-47236339 |
skin | malignant_melanoma | Substitution - Missense |
c.2481G>A; p.P827P; 20:47238942-47238942 |
breast | carcinoma | Substitution - coding silent |
c.665C>T; p.A222V; 20:47290270-47290270 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2162T>G; p.V721G; 20:47246130-47246130 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1826C>T; p.S609L; 20:47246466-47246466 |
skin | malignant_melanoma | Substitution - Missense |
c.393C>A; p.H131Q; 20:47298789-47298789 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.524C>T; p.S175F; 20:47294709-47294709 |
skin | malignant_melanoma | Substitution - Missense |
c.3404C>A; p.P1135Q; 20:47212668-47212668 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.610G>T; p.D204Y; 20:47291846-47291846 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2373delC; p.A792fs*28; 20:47239050-47239050 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Deletion - Frameshift |
c.998G>T; p.R333M; 20:47282102-47282102 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3197G>T; p.S1066I; 20:47221396-47221396 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2025C>T; p.S675S; 20:47246267-47246267 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.104G>C; p.R35T; 20:47310186-47310186 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.379C>A; p.P127T; 20:47298803-47298803 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.104G>C; p.R35T; 20:47310186-47310186 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.1391C>G; p.S464C; 20:47276403-47276403 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.104G>C; p.R35T; 20:47310186-47310186 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.2154C>T; p.S718S; 20:47246138-47246138 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1385C>T; p.T462M; 20:47276409-47276409 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1312G>T; p.G438W; 20:47276482-47276482 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.840A>G; p.L280L; 20:47283613-47283613 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2008delA; p.S670fs*37; 20:47246284-47246284 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2692G>A; p.A898T; 20:47236352-47236352 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2692G>A; p.A898T; 20:47236352-47236352 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2176G>A; p.D726N; 20:47246116-47246116 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2934C>T; p.I978I; 20:47224501-47224501 |
skin | malignant_melanoma | Substitution - coding silent |
c.2176G>A; p.D726N; 20:47246116-47246116 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1264G>C; p.D422H; 20:47276530-47276530 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1334C>T; p.S445F; 20:47276460-47276460 |
skin | malignant_melanoma | Substitution - Missense |
c.1314G>A; p.G438G; 20:47276480-47276480 |
skin | malignant_melanoma | Substitution - coding silent |
c.2206G>T; p.D736Y; 20:47246086-47246086 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2017C>G; p.P673A; 20:47246275-47246275 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3498T>C; p.D1166D; 20:47210830-47210830 |
prostate | adenoma | Substitution - coding silent |
c.2121G>T; p.K707N; 20:47246171-47246171 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1996G>A; p.E666K; 20:47246296-47246296 |
skin | malignant_melanoma | Substitution - Missense |
c.1709G>A; p.R570H; 20:47249352-47249352 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2230C>T; p.R744W; 20:47246062-47246062 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2544G>T; p.E848D; 20:47236500-47236500 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2418C>T; p.T806T; 20:47239005-47239005 |
skin | malignant_melanoma | Substitution - coding silent |
c.1578G>A; p.T526T; 20:47262331-47262331 |
pancreas | carcinoma | Substitution - coding silent |
c.2227G>A; p.G743R; 20:47246065-47246065 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2440G>A; p.A814T; 20:47238983-47238983 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.80C>T; p.S27F; 20:47347861-47347861 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3515G>A; p.S1172N; 20:47210813-47210813 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1322G>T; p.G441V; 20:47276472-47276472 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3011A>T; p.N1004I; 20:47224424-47224424 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2645C>T; p.S882L; 20:47236399-47236399 |
breast | carcinoma | Substitution - Missense |
c.1964delA; p.K655fs*14; 20:47246328-47246328 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1964delA; p.K655fs*14; 20:47246328-47246328 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.2334G>A; p.P778P; 20:47239089-47239089 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1964delA; p.K655fs*14; 20:47246328-47246328 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1964delA; p.K655fs*14; 20:47246328-47246328 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1261T>A; p.F421I; 20:47276533-47276533 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1964delA; p.K655fs*14; 20:47246328-47246328 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1964delA; p.K655fs*14; 20:47246328-47246328 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1215C>T; p.S405S; 20:47276579-47276579 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3527T>G; p.L1176R; 20:47210801-47210801 |
skin | malignant_melanoma | Substitution - Missense |
c.1755G>T; p.E585D; 20:47249306-47249306 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2329_2330CC>TT; p.P777F; 20:47239093-47239094 |
skin | malignant_melanoma | Substitution - Missense |
c.2989A>T; p.K997*; 20:47224446-47224446 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.581A>T; p.Q194L; 20:47291875-47291875 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3306G>T; p.E1102D; 20:47220298-47220298 |
liver | carcinoma | Substitution - Missense |
c.3306G>T; p.E1102D; 20:47220298-47220298 |
liver | carcinoma | Substitution - Missense |
c.3306G>T; p.E1102D; 20:47220298-47220298 |
liver | carcinoma | Substitution - Missense |
c.2119A>C; p.K707Q; 20:47246173-47246173 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.159G>A; p.S53S; 20:47310131-47310131 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2194G>A; p.E732K; 20:47246098-47246098 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.134C>T; p.P45L; 20:47310156-47310156 |
prostate | carcinoma | Substitution - Missense |
c.2194G>A; p.E732K; 20:47246098-47246098 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.28G>A; p.E10K; 20:47347913-47347913 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>C; p.E157Q; 20:47294764-47294764 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.469G>C; p.E157Q; 20:47294764-47294764 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1480G>T; p.A494S; 20:47276314-47276314 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2718+2T>C; p.?; 20:47236324-47236324 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.3104C>T; p.S1035F; 20:47224331-47224331 |
skin | malignant_melanoma | Substitution - Missense |
c.1938C>A; p.D646E; 20:47246354-47246354 |
prostate | adenoma | Substitution - Missense |
c.3293C>T; p.S1098F; 20:47220311-47220311 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1624C>T; p.R542*; 20:47249437-47249437 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2011A>G; p.T671A; 20:47246281-47246281 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3195G>A; p.S1065S; 20:47221398-47221398 |
skin | malignant_melanoma | Substitution - coding silent |
c.1693C>T; p.L565F; 20:47249368-47249368 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.3195G>A; p.S1065S; 20:47221398-47221398 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1693C>T; p.L565F; 20:47249368-47249368 |
breast | carcinoma | Substitution - Missense |
c.1693C>T; p.L565F; 20:47249368-47249368 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1693C>T; p.L565F; 20:47249368-47249368 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2972A>G; p.Q991R; 20:47224463-47224463 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1780A>C; p.N594H; 20:47246512-47246512 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2013G>A; p.T671T; 20:47246279-47246279 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.838C>G; p.L280V; 20:47283615-47283615 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2435C>T; p.P812L; 20:47238988-47238988 |
breast | carcinoma | Substitution - Missense |