General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 79192 |
Name | IRX1 |
Synonymous | iroquois homeobox 1;IRX1;iroquois homeobox 1 |
Definition | homeodomain protein IRXA1|iroquois homeobox protein 1|iroquois-class homeodomain protein IRX-1 |
Position | 5p15.3 |
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 0.01. |
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.1189C>T; p.P397S; 5:3600137-3600137 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.624C>T; p.S208S; 5:3599572-3599572 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.441C>A; p.N147K; 5:3599389-3599389 |
liver | carcinoma | Substitution - Missense |
c.388C>A; p.R130R; 5:3599336-3599336 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.441C>A; p.N147K; 5:3599389-3599389 |
liver | carcinoma | Substitution - Missense |
c.360C>T; p.Y120Y; 5:3599308-3599308 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.564G>T; p.E188D; 5:3599512-3599512 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.360C>T; p.Y120Y; 5:3599308-3599308 |
stomach | adenocarcinoma | Substitution - coding silent |
c.1413G>A; p.P471P; 5:3601010-3601010 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1198G>A; p.A400T; 5:3600146-3600146 |
pancreas | carcinoma | Substitution - Missense |
c.197C>T; p.A66V; 5:3596302-3596302 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1413G>A; p.P471P; 5:3601010-3601010 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1384A>G; p.N462D; 5:3600680-3600680 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.584C>A; p.A195E; 5:3599532-3599532 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1185C>T; p.G395G; 5:3600133-3600133 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1185C>T; p.G395G; 5:3600133-3600133 |
prostate | carcinoma | Substitution - coding silent |
c.1042G>A; p.A348T; 5:3599990-3599990 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.960G>C; p.A320A; 5:3599908-3599908 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.587G>A; p.R196H; 5:3599535-3599535 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1093A>G; p.T365A; 5:3600041-3600041 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1267C>G; p.L423V; 5:3600215-3600215 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.396G>A; p.K132K; 5:3599344-3599344 |
liver | carcinoma | Substitution - coding silent |
c.1314G>A; p.E438E; 5:3600610-3600610 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.806T>A; p.L269Q; 5:3599754-3599754 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.396G>A; p.K132K; 5:3599344-3599344 |
liver | carcinoma | Substitution - coding silent |
c.1062delC; p.A356fs*97; 5:3600010-3600010 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.424C>A; p.L142I; 5:3599372-3599372 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1171T>A; p.F391I; 5:3600119-3600119 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.370C>A; p.Q124K; 5:3599318-3599318 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1093A>C; p.T365P; 5:3600041-3600041 |
thyroid | other; neoplasm | Substitution - Missense |
c.1093A>C; p.T365P; 5:3600041-3600041 |
thyroid | other; neoplasm | Substitution - Missense |
c.744G>A; p.K248K; 5:3599692-3599692 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.531G>T; p.W177C; 5:3599479-3599479 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.385G>A; p.G129R; 5:3599333-3599333 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.462C>T; p.Y154Y; 5:3599410-3599410 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1386-8C>G; p.?; 5:3600975-3600975 |
pancreas | carcinoma | Unknown |
c.1119C>T; p.N373N; 5:3600067-3600067 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.355C>A; p.P119T; 5:3599303-3599303 |
liver | carcinoma | Substitution - Missense |
c.355C>A; p.P119T; 5:3599303-3599303 |
liver | carcinoma | Substitution - Missense |
c.1180G>A; p.V394I; 5:3600128-3600128 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1357A>C; p.K453Q; 5:3600653-3600653 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.486G>C; p.M162I; 5:3599434-3599434 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.1080C>A; p.S360R; 5:3600028-3600028 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.319G>A; p.A107T; 5:3599267-3599267 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.329C>G; p.A110G; 5:3599277-3599277 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.463C>T; p.P155S; 5:3599411-3599411 |
skin | malignant_melanoma | Substitution - Missense |
c.458C>T; p.P153L; 5:3599406-3599406 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.714C>A; p.G238G; 5:3599662-3599662 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.369C>T; p.F123F; 5:3599317-3599317 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.547C>T; p.R183W; 5:3599495-3599495 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.587G>T; p.R196L; 5:3599535-3599535 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1286C>T; p.S429L; 5:3600234-3600234 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.553C>T; p.L185F; 5:3599501-3599501 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.690T>C; p.I230I; 5:3599638-3599638 |
prostate | carcinoma | Substitution - coding silent |
c.558G>T; p.K186N; 5:3599506-3599506 |
pancreas | carcinoma | Substitution - Missense |
c.696G>C; p.K232N; 5:3599644-3599644 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.884G>A; p.R295H; 5:3599832-3599832 |
pancreas | carcinoma | Substitution - Missense |
c.491C>A; p.A164D; 5:3599439-3599439 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.661G>A; p.E221K; 5:3599609-3599609 |
skin | malignant_melanoma | Substitution - Missense |
c.361G>A; p.G121S; 5:3599309-3599309 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.328G>T; p.A110S; 5:3599276-3599276 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.282G>C; p.S94S; 5:3599230-3599230 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1350G>T; p.Q450H; 5:3600646-3600646 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1379G>A; p.R460H; 5:3600675-3600675 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.413G>T; p.S138I; 5:3599361-3599361 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.447C>A; p.H149Q; 5:3599395-3599395 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.849C>A; p.G283G; 5:3599797-3599797 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.849C>A; p.G283G; 5:3599797-3599797 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.849C>A; p.G283G; 5:3599797-3599797 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.282G>A; p.S94S; 5:3599230-3599230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.282G>A; p.S94S; 5:3599230-3599230 |
ovary | other; neoplasm | Substitution - coding silent |
c.1272T>C; p.N424N; 5:3600220-3600220 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1287_1288GG>TA; p.V430I; 5:3600235-3600236 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1412C>G; p.P471R; 5:3601009-3601009 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1244C>G; p.P415R; 5:3600192-3600192 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.422C>T; p.T141M; 5:3599370-3599370 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.544C>T; p.R182C; 5:3599492-3599492 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.201G>T; p.A67A; 5:3596306-3596306 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.544C>T; p.R182C; 5:3599492-3599492 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1191C>A; p.P397P; 5:3600139-3600139 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.819C>T; p.D273D; 5:3599767-3599767 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.800C>T; p.S267L; 5:3599748-3599748 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.231C>T; p.S77S; 5:3596336-3596336 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1045G>T; p.G349W; 5:3599993-3599993 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817G>A; p.D273N; 5:3599765-3599765 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1091A>G; p.Y364C; 5:3600039-3600039 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.685G>A; p.D229N; 5:3599633-3599633 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.685G>A; p.D229N; 5:3599633-3599633 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.439A>G; p.N147D; 5:3599387-3599387 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1383C>G; p.D461E; 5:3600679-3600679 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.541G>A; p.A181T; 5:3599489-3599489 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1160A>G; p.N387S; 5:3600108-3600108 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.583G>A; p.A195T; 5:3599531-3599531 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1204C>T; p.H402Y; 5:3600152-3600152 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.342G>A; p.A114A; 5:3599290-3599290 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.341C>T; p.A114V; 5:3599289-3599289 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.507G>T; p.M169I; 5:3599455-3599455 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1219C>T; p.P407S; 5:3600167-3600167 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1299C>A; p.S433R; 5:3600247-3600247 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1133C>G; p.A378G; 5:3600081-3600081 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1373C>T; p.P458L; 5:3600669-3600669 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.784G>T; p.A262S; 5:3599732-3599732 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.670G>A; p.D224N; 5:3599618-3599618 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.670G>A; p.D224N; 5:3599618-3599618 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1409C>T; p.T470M; 5:3601006-3601006 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.466A>T; p.T156S; 5:3599414-3599414 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.628A>G; p.T210A; 5:3599576-3599576 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1273G>T; p.G425*; 5:3600221-3600221 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.611C>T; p.A204V; 5:3599559-3599559 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.611C>T; p.A204V; 5:3599559-3599559 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.611C>T; p.A204V; 5:3599559-3599559 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.406C>A; p.R136S; 5:3599354-3599354 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.747C>T; p.A249A; 5:3599695-3599695 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.747C>T; p.A249A; 5:3599695-3599695 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.535G>A; p.A179T; 5:3599483-3599483 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.535G>A; p.A179T; 5:3599483-3599483 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1030C>T; p.H344Y; 5:3599978-3599978 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.400G>T; p.A134S; 5:3599348-3599348 |
liver | carcinoma | Substitution - Missense |
c.396G>T; p.K132N; 5:3599344-3599344 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.400G>T; p.A134S; 5:3599348-3599348 |
liver | carcinoma | Substitution - Missense |
c.613C>A; p.L205I; 5:3599561-3599561 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.445_446insTCAACGAGC; p.E148_H149insLNE; 5:3599393-3599394 |
prostate | carcinoma | Insertion - In frame |
c.244T>A; p.Y82N; 5:3596349-3596349 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.512T>A; p.L171H; 5:3599460-3599460 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1385A>G; p.N462S; 5:3600681-3600681 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.658G>A; p.D220N; 5:3599606-3599606 |
skin | malignant_melanoma | Substitution - Missense |
c.561G>A; p.K187K; 5:3599509-3599509 |
skin | malignant_melanoma | Substitution - coding silent |
c.514A>G; p.T172A; 5:3599462-3599462 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.620G>T; p.G207V; 5:3599568-3599568 |
soft_tissue; striated_muscle | rhabdoid_tumour | Substitution - Missense |
c.601G>A; p.E201K; 5:3599549-3599549 |
skin | malignant_melanoma | Substitution - Missense |
c.1217T>G; p.L406R; 5:3600165-3600165 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.405C>T; p.T135T; 5:3599353-3599353 |
skin | malignant_melanoma | Substitution - coding silent |
c.369C>G; p.F123L; 5:3599317-3599317 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.312G>T; p.V104V; 5:3599260-3599260 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.348T>C; p.A116A; 5:3599296-3599296 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.635G>A; p.G212D; 5:3599583-3599583 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1438G>A; p.A480T; 5:3601035-3601035 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1438G>A; p.A480T; 5:3601035-3601035 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1341G>A; p.S447S; 5:3600637-3600637 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1341G>A; p.S447S; 5:3600637-3600637 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.273G>A; p.Q91Q; 5:3596378-3596378 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1166G>A; p.R389H; 5:3600114-3600114 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.652G>A; p.E218K; 5:3599600-3599600 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.660C>T; p.D220D; 5:3599608-3599608 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.660C>T; p.D220D; 5:3599608-3599608 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1166G>A; p.R389H; 5:3600114-3600114 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.475G>A; p.E159K; 5:3599423-3599423 |
prostate | carcinoma | Substitution - Missense |
c.1260delG; p.A422fs*31; 5:3600208-3600208 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.212C>T; p.A71V; 5:3596317-3596317 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Substitution - Missense |
c.1398G>A; p.P466P; 5:3600995-3600995 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.355C>T; p.P119S; 5:3599303-3599303 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.846G>T; p.L282F; 5:3599794-3599794 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.543G>A; p.A181A; 5:3599491-3599491 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.543G>A; p.A181A; 5:3599491-3599491 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1265C>T; p.A422V; 5:3600213-3600213 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1419C>T; p.I473I; 5:3601016-3601016 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.619G>T; p.G207C; 5:3599567-3599567 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1419C>G; p.I473M; 5:3601016-3601016 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1186G>A; p.A396T; 5:3600134-3600134 |
pancreas | carcinoma | Substitution - Missense |
c.1186G>A; p.A396T; 5:3600134-3600134 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.526A>G; p.T176A; 5:3599474-3599474 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.348T>G; p.A116A; 5:3599296-3599296 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.709G>A; p.D237N; 5:3599657-3599657 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.1178G>T; p.G393V; 5:3600126-3600126 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493A>G; p.I165V; 5:3599441-3599441 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1032C>A; p.H344Q; 5:3599980-3599980 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1165C>T; p.R389C; 5:3600113-3600113 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1165C>T; p.R389C; 5:3600113-3600113 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.511C>A; p.L171I; 5:3599459-3599459 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.511C>A; p.L171I; 5:3599459-3599459 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.511C>A; p.L171I; 5:3599459-3599459 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1187C>A; p.A396D; 5:3600135-3600135 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1190C>T; p.P397L; 5:3600138-3600138 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.509C>G; p.T170S; 5:3599457-3599457 |
pancreas | carcinoma | Substitution - Missense |
c.641C>T; p.P214L; 5:3599589-3599589 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1343C>A; p.P448Q; 5:3600639-3600639 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.378G>A; p.G126G; 5:3599326-3599326 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.329C>T; p.A110V; 5:3599277-3599277 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1134A>C; p.A378A; 5:3600082-3600082 |
skin | malignant_melanoma | Substitution - coding silent |
c.584C>T; p.A195V; 5:3599532-3599532 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.387G>C; p.G129G; 5:3599335-3599335 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1245G>A; p.P415P; 5:3600193-3600193 |
pancreas | NS | Substitution - coding silent |
c.338C>T; p.T113M; 5:3599286-3599286 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.338C>T; p.T113M; 5:3599286-3599286 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1439C>G; p.A480G; 5:3601036-3601036 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.928C>T; p.P310S; 5:3599876-3599876 |
pancreas | carcinoma | Substitution - Missense |
c.765C>T; p.P255P; 5:3599713-3599713 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1314G>T; p.E438D; 5:3600610-3600610 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.384C>T; p.P128P; 5:3599332-3599332 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.198G>A; p.A66A; 5:3596303-3596303 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.311T>C; p.V104A; 5:3599259-3599259 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.311T>C; p.V104A; 5:3599259-3599259 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.343C>T; p.P115S; 5:3599291-3599291 |
skin | malignant_melanoma | Substitution - Missense |
c.437T>G; p.L146R; 5:3599385-3599385 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.700G>A; p.D234N; 5:3599648-3599648 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1205A>G; p.H402R; 5:3600153-3600153 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1205A>G; p.H402R; 5:3600153-3600153 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.872C>A; p.P291Q; 5:3599820-3599820 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1132G>A; p.A378T; 5:3600080-3600080 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1132G>A; p.A378T; 5:3600080-3600080 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.665A>T; p.E222V; 5:3599613-3599613 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.735C>T; p.D245D; 5:3599683-3599683 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.811G>A; p.A271T; 5:3599759-3599759 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.339G>A; p.T113T; 5:3599287-3599287 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1199C>T; p.A400V; 5:3600147-3600147 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1047G>A; p.G349G; 5:3599995-3599995 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1142C>A; p.A381E; 5:3600090-3600090 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.630C>T; p.T210T; 5:3599578-3599578 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.472G>A; p.G158S; 5:3599420-3599420 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.820G>A; p.V274I; 5:3599768-3599768 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.548G>A; p.R183Q; 5:3599496-3599496 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1323C>T; p.L441L; 5:3600619-3600619 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1361C>T; p.S454L; 5:3600657-3600657 |
skin | malignant_melanoma | Substitution - Missense |
c.1228C>T; p.P410S; 5:3600176-3600176 |
skin | malignant_melanoma | Substitution - Missense |
c.588C>T; p.R196R; 5:3599536-3599536 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.708C>T; p.H236H; 5:3599656-3599656 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.640C>G; p.P214A; 5:3599588-3599588 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1324G>A; p.V442I; 5:3600620-3600620 |
liver | carcinoma | Substitution - Missense |
c.1324G>A; p.V442I; 5:3600620-3600620 |
liver | carcinoma | Substitution - Missense |
c.447_448CC>AG; p.H149>?; 5:3599395-3599396 |
lung | carcinoma; adenocarcinoma | Complex |
c.277-5T>G; p.?; 5:3599220-3599220 |
pancreas | carcinoma | Unknown |
c.620G>A; p.G207D; 5:3599568-3599568 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.313C>T; p.H105Y; 5:3599261-3599261 |
skin | malignant_melanoma | Substitution - Missense |
c.1267C>A; p.L423I; 5:3600215-3600215 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |