| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 23250 |
Name | ATP11A |
Synonymous | ATPase, class VI, type 11A;ATP11A;ATPase, class VI, type 11A |
Definition | P4-ATPase flippase complex alpha subunit ATP11A|phospholipid-translocating ATPase|potential phospholipid-transporting ATPase IH|probable phospholipid-transporting ATPase IH |
Position | 13q34 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2751G>A; p.L917L; 13:112860310-112860310 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2646C>T; p.L882L; 13:112858269-112858269 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2646C>T; p.L882L; 13:112858269-112858269 |
skin | malignant_melanoma | Substitution - coding silent |
c.2491A>G; p.S831G; 13:112857890-112857890 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2646C>T; p.L882L; 13:112858269-112858269 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.82G>A; p.V28M; 13:112785177-112785177 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.717C>A; p.P239P; 13:112819942-112819942 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - coding silent |
c.82G>A; p.V28M; 13:112785177-112785177 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1528G>A; p.D510N; 13:112832992-112832992 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1464C>T; p.S488S; 13:112832928-112832928 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.135C>T; p.Y45Y; 13:112785230-112785230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1634T>A; p.F545Y; 13:112836180-112836180 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.542C>G; p.A181G; 13:112816183-112816183 |
skin | malignant_melanoma | Substitution - Missense |
c.524C>T; p.T175M; 13:112816165-112816165 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1225G>T; p.E409*; 13:112831378-112831378 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Nonsense |
c.3067G>A; p.D1023N; 13:112873582-112873582 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.971G>A; p.R324Q; 13:112825528-112825528 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.2430A>T; p.L810F; 13:112857829-112857829 |
ovary | other; neoplasm | Substitution - Missense |
c.1809+1G>A; p.?; 13:112842380-112842380 |
liver | carcinoma | Unknown |
c.1330G>A; p.G444R; 13:112831483-112831483 |
skin | malignant_melanoma | Substitution - Missense |
c.3105C>T; p.I1035I; 13:112873620-112873620 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1809+1G>A; p.?; 13:112842380-112842380 |
liver | carcinoma | Unknown |
c.299_301delTCT; p.F102delF; 13:112806259-112806261 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.2658C>G; p.F886L; 13:112858281-112858281 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3187T>C; p.Y1063H; 13:112875801-112875801 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.838C>A; p.Q280K; 13:112824391-112824391 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1162G>A; p.E388K; 13:112826832-112826832 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1162G>A; p.E388K; 13:112826832-112826832 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2749C>G; p.L917V; 13:112860308-112860308 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1909G>T; p.D637Y; 13:112851136-112851136 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3161+7A>G; p.?; 13:112873683-112873683 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.2118G>A; p.R706R; 13:112854405-112854405 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2365C>T; p.R789W; 13:112856032-112856032 |
breast | carcinoma | Substitution - Missense |
c.2743G>A; p.A915T; 13:112860302-112860302 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2634G>A; p.R878R; 13:112858257-112858257 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2634G>A; p.R878R; 13:112858257-112858257 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2036C>T; p.A679V; 13:112854323-112854323 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1992-1G>T; p.?; 13:112854278-112854278 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.581C>T; p.A194V; 13:112819314-112819314 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1982T>C; p.V661A; 13:112851209-112851209 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.2438T>C; p.F813S; 13:112857837-112857837 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2623T>C; p.Y875H; 13:112858246-112858246 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2240C>T; p.S747F; 13:112854527-112854527 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2372G>T; p.C791F; 13:112856039-112856039 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.235A>G; p.I79V; 13:112805029-112805029 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1617G>A; p.E539E; 13:112834646-112834646 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.371C>T; p.A124V; 13:112810656-112810656 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3142C>A; p.L1048I; 13:112873657-112873657 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1503C>T; p.S501S; 13:112832967-112832967 |
skin | malignant_melanoma | Substitution - coding silent |
c.679G>A; p.V227M; 13:112819904-112819904 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1281G>T; p.K427N; 13:112831434-112831434 |
NS | malignant_melanoma | Substitution - Missense |
c.2824G>A; p.D942N; 13:112860383-112860383 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1717C>G; p.L573V; 13:112842287-112842287 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.2616G>A; p.G872G; 13:112858239-112858239 |
oesophagus | carcinoma | Substitution - coding silent |
c.1289G>A; p.C430Y; 13:112831442-112831442 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1100C>A; p.T367K; 13:112826770-112826770 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1216_1217GG>TT; p.G406>?; 13:112826886-112826887 |
lung | carcinoma; small_cell_carcinoma | Complex |
c.3249G>A; p.V1083V; 13:112875863-112875863 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1373C>T; p.S458L; 13:112831526-112831526 |
skin | malignant_melanoma | Substitution - Missense |
c.1100C>T; p.T367M; 13:112826770-112826770 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1100C>T; p.T367M; 13:112826770-112826770 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1524G>A; p.S508S; 13:112832988-112832988 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2314C>T; p.R772*; 13:112855981-112855981 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.109G>A; p.A37T; 13:112785204-112785204 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2395A>C; p.M799L; 13:112856062-112856062 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.583G>A; p.V195I; 13:112819316-112819316 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.385C>T; p.P129S; 13:112810670-112810670 |
skin | malignant_melanoma | Substitution - Missense |
c.633C>T; p.H211H; 13:112819366-112819366 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.948C>T; p.Y316Y; 13:112825505-112825505 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3086G>C; p.W1029S; 13:112873601-112873601 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.300C>T; p.L100L; 13:112806260-112806260 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.942G>A; p.L314L; 13:112825499-112825499 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1374G>A; p.S458S; 13:112831527-112831527 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1590C>T; p.D530D; 13:112834619-112834619 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.115G>A; p.A39T; 13:112785210-112785210 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.749T>A; p.L250Q; 13:112823368-112823368 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.787delT; p.F263fs*15; 13:112823406-112823406 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.953G>A; p.W318*; 13:112825510-112825510 |
skin; mucosal | malignant_melanoma | Substitution - Nonsense |
c.162+1G>A; p.?; 13:112785258-112785258 |
skin | malignant_melanoma | Unknown |
c.94G>T; p.E32*; 13:112785189-112785189 |
breast | carcinoma | Substitution - Nonsense |
c.3254T>C; p.I1085T; 13:112875868-112875868 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1420G>A; p.A474T; 13:112832884-112832884 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2530G>A; p.G844S; 13:112858153-112858153 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1212G>A; p.E404E; 13:112826882-112826882 |
liver | carcinoma | Substitution - coding silent |
c.2175C>T; p.D725D; 13:112854462-112854462 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2175C>T; p.D725D; 13:112854462-112854462 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1212G>A; p.E404E; 13:112826882-112826882 |
liver | carcinoma | Substitution - coding silent |
c.1550G>C; p.G517A; 13:112833014-112833014 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1966C>T; p.L656F; 13:112851193-112851193 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1550G>C; p.G517A; 13:112833014-112833014 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1626C>T; p.I542I; 13:112834655-112834655 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1626C>T; p.I542I; 13:112834655-112834655 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.949A>G; p.M317V; 13:112825506-112825506 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.949A>G; p.M317V; 13:112825506-112825506 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.686G>A; p.R229H; 13:112819911-112819911 |
breast | carcinoma | Substitution - Missense |
c.1680G>C; p.M560I; 13:112836226-112836226 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3199A>G; p.I1067V; 13:112875813-112875813 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2955C>T; p.F985F; 13:112862539-112862539 |
skin | malignant_melanoma | Substitution - coding silent |
c.2955C>T; p.F985F; 13:112862539-112862539 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.678C>T; p.F226F; 13:112819903-112819903 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.294T>C; p.L98L; 13:112806254-112806254 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3126C>A; p.Y1042*; 13:112873641-112873641 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.678C>T; p.F226F; 13:112819903-112819903 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1471G>A; p.G491S; 13:112832935-112832935 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1539G>C; p.A513A; 13:112833003-112833003 |
thyroid | carcinoma | Substitution - coding silent |
c.1401C>T; p.R467R; 13:112832865-112832865 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1401C>T; p.R467R; 13:112832865-112832865 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2507C>T; p.A836V; 13:112857906-112857906 |
breast | carcinoma | Substitution - Missense |
c.3381G>A; p.Q1127Q; 13:112878270-112878270 |
breast | carcinoma | Substitution - coding silent |
c.957G>A; p.Q319Q; 13:112825514-112825514 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.252+1G>T; p.?; 13:112805047-112805047 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1018A>G; p.N340D; 13:112825575-112825575 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2268C>T; p.Y756Y; 13:112855935-112855935 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2529C>T; p.I843I; 13:112858152-112858152 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2999G>A; p.G1000E; 13:112871742-112871742 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2369G>A; p.S790N; 13:112856036-112856036 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2369G>A; p.S790N; 13:112856036-112856036 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2658C>A; p.F886L; 13:112858281-112858281 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2687C>T; p.P896L; 13:112859412-112859412 |
skin | malignant_melanoma | Substitution - Missense |
c.1400G>A; p.R467H; 13:112832864-112832864 |
pancreas | carcinoma | Substitution - Missense |
c.809G>A; p.G270E; 13:112824362-112824362 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.685C>T; p.R229C; 13:112819910-112819910 |
skin | malignant_melanoma | Substitution - Missense |
c.738G>A; p.S246S; 13:112823357-112823357 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.682G>T; p.G228C; 13:112819907-112819907 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.886T>C; p.F296L; 13:112825443-112825443 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.535A>G; p.T179A; 13:112816176-112816176 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.964C>T; p.P322S; 13:112825521-112825521 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.1396-1G>A; p.?; 13:112832859-112832859 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.839A>G; p.Q280R; 13:112824392-112824392 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1546G>A; p.E516K; 13:112833010-112833010 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1383C>T; p.S461S; 13:112831536-112831536 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2888G>A; p.R963H; 13:112862472-112862472 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2742C>T; p.T914T; 13:112860301-112860301 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2888G>A; p.R963H; 13:112862472-112862472 |
breast | carcinoma | Substitution - Missense |
c.2888G>A; p.R963H; 13:112862472-112862472 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2791C>T; p.L931L; 13:112860350-112860350 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1095C>T; p.Y365Y; 13:112826765-112826765 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1804G>A; p.A602T; 13:112842374-112842374 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.621C>T; p.I207I; 13:112819354-112819354 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1203C>A; p.L401L; 13:112826873-112826873 |
breast | carcinoma | Substitution - coding silent |
c.694G>T; p.V232F; 13:112819919-112819919 |
thyroid | other; neoplasm | Substitution - Missense |
c.806C>T; p.T269M; 13:112824359-112824359 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.848C>T; p.S283F; 13:112824401-112824401 |
skin | malignant_melanoma | Substitution - Missense |
c.848C>T; p.S283F; 13:112824401-112824401 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3333G>C; p.K1111N; 13:112878222-112878222 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1753C>T; p.R585*; 13:112842323-112842323 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1329C>T; p.N443N; 13:112831482-112831482 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.2745G>A; p.A915A; 13:112860304-112860304 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2976G>T; p.V992V; 13:112862560-112862560 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3332A>G; p.K1111R; 13:112878221-112878221 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3307A>G; p.T1103A; 13:112875921-112875921 |
pancreas | carcinoma | Substitution - Missense |
c.3165G>A; p.P1055P; 13:112875779-112875779 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1492G>A; p.G498R; 13:112832956-112832956 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.875C>T; p.S292L; 13:112825432-112825432 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2078C>T; p.T693M; 13:112854365-112854365 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1357A>G; p.I453V; 13:112831510-112831510 |
breast | carcinoma | Substitution - Missense |
c.847T>C; p.S283P; 13:112824400-112824400 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.1848G>A; p.L616L; 13:112851075-112851075 |
breast | carcinoma | Substitution - coding silent |
c.189G>T; p.K63N; 13:112804983-112804983 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.189G>T; p.K63N; 13:112804983-112804983 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2084C>T; p.A695V; 13:112854371-112854371 |
skin | malignant_melanoma | Substitution - Missense |
c.2532C>G; p.G844G; 13:112858155-112858155 |
breast | carcinoma | Substitution - coding silent |
c.987T>C; p.Y329Y; 13:112825544-112825544 |
liver | carcinoma | Substitution - coding silent |
c.2921T>A; p.F974Y; 13:112862505-112862505 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2376C>T; p.S792S; 13:112856043-112856043 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1174G>T; p.E392*; 13:112826844-112826844 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1105G>A; p.E369K; 13:112826775-112826775 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.884C>T; p.A295V; 13:112825441-112825441 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.334-1G>C; p.?; 13:112810618-112810618 |
breast | carcinoma | Unknown |
c.3049A>G; p.T1017A; 13:112871792-112871792 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.884C>T; p.A295V; 13:112825441-112825441 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.289G>A; p.G97R; 13:112806249-112806249 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.786C>A; p.I262I; 13:112823405-112823405 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3368T>A; p.F1123Y; 13:112878257-112878257 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3228_3229insC; p.L1077fs*35; 13:112875842-112875843 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Insertion - Frameshift |
c.3219G>A; p.G1073G; 13:112875833-112875833 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1146C>T; p.D382D; 13:112826816-112826816 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1749C>T; p.F583F; 13:112842319-112842319 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1390G>A; p.G464R; 13:112831543-112831543 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2259G>A; p.M753I; 13:112855926-112855926 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1350G>A; p.S450S; 13:112831503-112831503 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.3328-9G>A; p.?; 13:112878208-112878208 |
liver | carcinoma | Unknown |
c.3328-9G>A; p.?; 13:112878208-112878208 |
liver | carcinoma | Unknown |
c.1405G>A; p.E469K; 13:112832869-112832869 |
skin | malignant_melanoma | Substitution - Missense |
c.2114G>A; p.R705H; 13:112854401-112854401 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2244-10A>T; p.?; 13:112855901-112855901 |
prostate | carcinoma; adenocarcinoma | Unknown |
c.327C>G; p.I109M; 13:112806287-112806287 |
breast | carcinoma | Substitution - Missense |
c.2927C>G; p.A976G; 13:112862511-112862511 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.261T>G; p.I87M; 13:112806221-112806221 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.675-1G>A; p.?; 13:112819899-112819899 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Unknown |
c.1190A>G; p.N397S; 13:112826860-112826860 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2624A>T; p.Y875F; 13:112858247-112858247 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2779C>T; p.L927F; 13:112860338-112860338 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2416C>G; p.Q806E; 13:112856083-112856083 |
ovary | other; neoplasm | Substitution - Missense |
c.3007A>G; p.T1003A; 13:112871750-112871750 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1305C>T; p.V435V; 13:112831458-112831458 |
skin | malignant_melanoma | Substitution - coding silent |
c.450C>T; p.D150D; 13:112816091-112816091 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3292C>T; p.R1098W; 13:112875906-112875906 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1063C>T; p.L355F; 13:112826733-112826733 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.611A>G; p.E204G; 13:112819344-112819344 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2671G>A; p.V891I; 13:112859396-112859396 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2982C>T; p.S994S; 13:112862566-112862566 |
bone; tibia | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1560-1G>C; p.?; 13:112834588-112834588 |
breast | carcinoma | Unknown |
c.156G>A; p.S52S; 13:112785251-112785251 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.156G>A; p.S52S; 13:112785251-112785251 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.156G>A; p.S52S; 13:112785251-112785251 |
breast | carcinoma | Substitution - coding silent |
c.2198C>T; p.T733M; 13:112854485-112854485 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.66C>T; p.D22D; 13:112785161-112785161 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.75C>T; p.T25T; 13:112785170-112785170 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - coding silent |
c.2421T>A; p.I807I; 13:112857820-112857820 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2198C>T; p.T733M; 13:112854485-112854485 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1801A>G; p.N601D; 13:112842371-112842371 |
liver | carcinoma | Substitution - Missense |
c.1801A>G; p.N601D; 13:112842371-112842371 |
liver | carcinoma | Substitution - Missense |
c.2320G>C; p.D774H; 13:112855987-112855987 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2091G>A; p.T697T; 13:112854378-112854378 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.725+2T>G; p.?; 13:112819952-112819952 |
pancreas | carcinoma | Unknown |
c.1847T>C; p.L616P; 13:112851074-112851074 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.697T>G; p.Y233D; 13:112819922-112819922 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3396G>C; p.L1132L; 13:112878285-112878285 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.3091A>T; p.N1031Y; 13:112873606-112873606 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.443T>C; p.V148A; 13:112816084-112816084 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.117C>T; p.A39A; 13:112785212-112785212 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3243G>T; p.L1081L; 13:112875857-112875857 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2248T>G; p.S750A; 13:112855915-112855915 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1084G>A; p.V362M; 13:112826754-112826754 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2217G>T; p.G739G; 13:112854504-112854504 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1670G>A; p.R557K; 13:112836216-112836216 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3343C>T; p.L1115F; 13:112878232-112878232 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.686G>T; p.R229L; 13:112819911-112819911 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.864C>T; p.A288A; 13:112824417-112824417 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3053T>C; p.L1018P; 13:112871796-112871796 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.471C>T; p.D157D; 13:112816112-112816112 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1560A>T; p.R520S; 13:112834589-112834589 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2552C>A; p.A851D; 13:112858175-112858175 |
breast | carcinoma | Substitution - Missense |
c.3058C>G; p.L1020V; 13:112873573-112873573 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2926G>A; p.A976T; 13:112862510-112862510 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |