General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 167465 |
Name | ZNF366 |
Synonymous | zinc finger protein 366;ZNF366;zinc finger protein 366 |
Definition | - |
Position | 5q13.2|5q13.2 |
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 0.09. |
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.58A>G; p.K20E; 5:72461439-72461439 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.58A>G; p.K20E; 5:72461439-72461439 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.58A>G; p.K20E; 5:72461439-72461439 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.58A>G; p.K20E; 5:72461439-72461439 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.479T>C; p.V160A; 5:72461018-72461018 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.217G>A; p.G73R; 5:72461280-72461280 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.325C>T; p.L109F; 5:72461172-72461172 |
skin | malignant_melanoma | Substitution - Missense |
c.1187C>T; p.S396F; 5:72460310-72460310 |
skin | malignant_melanoma | Substitution - Missense |
c.1187C>T; p.S396F; 5:72460310-72460310 |
skin | malignant_melanoma | Substitution - Missense |
c.1066G>A; p.E356K; 5:72460431-72460431 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.494C>T; p.T165M; 5:72461003-72461003 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.1077C>T; p.H359H; 5:72460420-72460420 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.666C>T; p.S222S; 5:72460831-72460831 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.858C>T; p.C286C; 5:72460639-72460639 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1690C>T; p.H564Y; 5:72447252-72447252 |
skin | malignant_melanoma | Substitution - Missense |
c.1822G>A; p.G608R; 5:72444169-72444169 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1886A>C; p.E629A; 5:72444105-72444105 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2072G>A; p.R691K; 5:72443919-72443919 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.654G>A; p.E218E; 5:72460843-72460843 |
thyroid | other; neoplasm | Substitution - coding silent |
c.976C>T; p.R326C; 5:72460521-72460521 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.652G>A; p.E218K; 5:72460845-72460845 |
breast | carcinoma | Substitution - Missense |
c.1963G>A; p.A655T; 5:72444028-72444028 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1229A>G; p.N410S; 5:72460268-72460268 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2017G>A; p.G673R; 5:72443974-72443974 |
skin | malignant_melanoma | Substitution - Missense |
c.38T>G; p.V13G; 5:72461459-72461459 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.1909C>T; p.P637S; 5:72444082-72444082 |
skin | malignant_melanoma | Substitution - Missense |
c.1418A>C; p.N473T; 5:72456510-72456510 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.52G>C; p.A18P; 5:72461445-72461445 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1878C>G; p.Y626*; 5:72444113-72444113 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Nonsense |
c.24C>G; p.I8M; 5:72461473-72461473 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1878C>T; p.Y626Y; 5:72444113-72444113 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.381G>A; p.Q127Q; 5:72461116-72461116 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.582G>A; p.S194S; 5:72460915-72460915 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1830T>G; p.S610R; 5:72444161-72444161 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1993G>C; p.E665Q; 5:72443998-72443998 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.110A>G; p.K37R; 5:72461387-72461387 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1995G>T; p.E665D; 5:72443996-72443996 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.576G>A; p.S192S; 5:72460921-72460921 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1519T>A; p.C507S; 5:72456409-72456409 |
breast | carcinoma | Substitution - Missense |
c.45C>T; p.F15F; 5:72461452-72461452 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.45C>T; p.F15F; 5:72461452-72461452 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1488G>A; p.M496I; 5:72456440-72456440 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.805G>T; p.V269F; 5:72460692-72460692 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.983T>C; p.M328T; 5:72460514-72460514 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.46G>A; p.D16N; 5:72461451-72461451 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2198G>A; p.R733K; 5:72443793-72443793 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.714C>T; p.I238I; 5:72460783-72460783 |
skin | malignant_melanoma | Substitution - coding silent |
c.1189G>A; p.E397K; 5:72460308-72460308 |
skin | malignant_melanoma | Substitution - Missense |
c.1125C>A; p.P375P; 5:72460372-72460372 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1921C>G; p.Q641E; 5:72444070-72444070 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.400G>A; p.V134M; 5:72461097-72461097 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.400G>A; p.V134M; 5:72461097-72461097 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1699+8C>T; p.?; 5:72447235-72447235 |
liver | carcinoma | Unknown |
c.1699+8C>T; p.?; 5:72447235-72447235 |
liver | carcinoma | Unknown |
c.1916G>A; p.S639N; 5:72444075-72444075 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.304G>C; p.E102Q; 5:72461193-72461193 |
ovary | other; neoplasm | Substitution - Missense |
c.500C>A; p.T167N; 5:72460997-72460997 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1356G>A; p.G452G; 5:72456572-72456572 |
skin | malignant_melanoma | Substitution - coding silent |
c.2132G>A; p.G711D; 5:72443859-72443859 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1157C>T; p.T386M; 5:72460340-72460340 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1028G>A; p.G343D; 5:72460469-72460469 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1134C>T; p.A378A; 5:72460363-72460363 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1878C>A; p.Y626*; 5:72444113-72444113 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.512C>T; p.P171L; 5:72460985-72460985 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.419G>A; p.R140H; 5:72461078-72461078 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.958C>T; p.Q320*; 5:72460539-72460539 |
skin | malignant_melanoma | Substitution - Nonsense |
c.419G>A; p.R140H; 5:72461078-72461078 |
breast | carcinoma | Substitution - Missense |
c.129C>T; p.P43P; 5:72461368-72461368 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1402G>A; p.V468M; 5:72456526-72456526 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.478G>A; p.V160M; 5:72461019-72461019 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.541C>T; p.H181Y; 5:72460956-72460956 |
skin | malignant_melanoma | Substitution - Missense |
c.1648C>T; p.R550C; 5:72447294-72447294 |
liver | carcinoma | Substitution - Missense |
c.1648C>T; p.R550C; 5:72447294-72447294 |
liver | carcinoma | Substitution - Missense |
c.422G>A; p.S141N; 5:72461075-72461075 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.384G>A; p.M128I; 5:72461113-72461113 |
breast | carcinoma | Substitution - Missense |
c.422G>A; p.S141N; 5:72461075-72461075 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1110C>T; p.C370C; 5:72460387-72460387 |
skin | malignant_melanoma | Substitution - coding silent |
c.510G>T; p.L170L; 5:72460987-72460987 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1206C>T; p.F402F; 5:72460291-72460291 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1710G>A; p.R570R; 5:72444281-72444281 |
skin | malignant_melanoma | Substitution - coding silent |
c.1838G>A; p.G613D; 5:72444153-72444153 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2138C>A; p.S713Y; 5:72443853-72443853 |
breast | carcinoma | Substitution - Missense |
c.851C>T; p.T284M; 5:72460646-72460646 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.867C>T; p.L289L; 5:72460630-72460630 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.851C>T; p.T284M; 5:72460646-72460646 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1102G>A; p.V368M; 5:72460395-72460395 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1858G>A; p.E620K; 5:72444133-72444133 |
skin | malignant_melanoma | Substitution - Missense |
c.1480G>A; p.A494T; 5:72456448-72456448 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1376C>T; p.T459I; 5:72456552-72456552 |
skin | malignant_melanoma | Substitution - Missense |
c.461C>T; p.P154L; 5:72461036-72461036 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1480G>A; p.A494T; 5:72456448-72456448 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1812C>T; p.F604F; 5:72444179-72444179 |
skin | malignant_melanoma | Substitution - coding silent |
c.1302C>A; p.H434Q; 5:72460195-72460195 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1811T>C; p.F604S; 5:72444180-72444180 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1748G>A; p.R583K; 5:72444243-72444243 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.1680G>A; p.E560E; 5:72447262-72447262 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.976C>A; p.R326S; 5:72460521-72460521 |
breast | carcinoma | Substitution - Missense |
c.976C>A; p.R326S; 5:72460521-72460521 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.1806G>T; p.P602P; 5:72444185-72444185 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.526T>C; p.Y176H; 5:72460971-72460971 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.695T>C; p.V232A; 5:72460802-72460802 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1919A>T; p.Q640L; 5:72444072-72444072 |
breast | carcinoma | Substitution - Missense |
c.1222C>T; p.L408L; 5:72460275-72460275 |
prostate | adenoma | Substitution - coding silent |
c.839C>T; p.P280L; 5:72460658-72460658 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.698A>G; p.D233G; 5:72460799-72460799 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1918C>T; p.Q640*; 5:72444073-72444073 |
skin | malignant_melanoma | Substitution - Nonsense |
c.686T>C; p.V229A; 5:72460811-72460811 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.214G>A; p.E72K; 5:72461283-72461283 |
skin | malignant_melanoma | Substitution - Missense |
c.1124C>G; p.P375R; 5:72460373-72460373 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.1297C>A; p.P433T; 5:72460200-72460200 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1856A>G; p.E619G; 5:72444135-72444135 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.111G>T; p.K37N; 5:72461386-72461386 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1410C>A; p.I470I; 5:72456518-72456518 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1947C>T; p.S649S; 5:72444044-72444044 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.723C>T; p.S241S; 5:72460774-72460774 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1793G>A; p.R598Q; 5:72444198-72444198 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.887T>C; p.L296P; 5:72460610-72460610 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1459G>A; p.V487M; 5:72456469-72456469 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.888G>A; p.L296L; 5:72460609-72460609 |
pancreas | carcinoma | Substitution - coding silent |
c.10G>A; p.E4K; 5:72461487-72461487 |
skin | malignant_melanoma | Substitution - Missense |
c.1018C>T; p.R340C; 5:72460479-72460479 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.866T>C; p.L289P; 5:72460631-72460631 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.866T>C; p.L289P; 5:72460631-72460631 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.775G>A; p.E259K; 5:72460722-72460722 |
breast | carcinoma | Substitution - Missense |
c.309G>T; p.E103D; 5:72461188-72461188 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1164G>A; p.R388R; 5:72460333-72460333 |
skin | malignant_melanoma | Substitution - coding silent |
c.1231C>A; p.H411N; 5:72460266-72460266 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1051G>A; p.E351K; 5:72460446-72460446 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2143delT; p.S715fs*13; 5:72443848-72443848 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.543C>T; p.H181H; 5:72460954-72460954 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.471C>A; p.P157P; 5:72461026-72461026 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.443A>T; p.K148M; 5:72461054-72461054 |
thyroid | other; neoplasm | Substitution - Missense |
c.447C>T; p.P149P; 5:72461050-72461050 |
prostate | carcinoma | Substitution - coding silent |
c.57G>A; p.V19V; 5:72461440-72461440 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.389A>G; p.D130G; 5:72461108-72461108 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1738G>T; p.G580C; 5:72444253-72444253 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1367G>A; p.R456Q; 5:72456561-72456561 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1938G>T; p.E646D; 5:72444053-72444053 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1367G>A; p.R456Q; 5:72456561-72456561 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1367G>A; p.R456Q; 5:72456561-72456561 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.206G>T; p.G69V; 5:72461291-72461291 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1670G>T; p.G557V; 5:72447272-72447272 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.1515C>G; p.F505L; 5:72456413-72456413 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1920G>A; p.Q640Q; 5:72444071-72444071 |
breast | carcinoma | Substitution - coding silent |
c.977G>A; p.R326H; 5:72460520-72460520 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.860G>A; p.G287E; 5:72460637-72460637 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.977G>A; p.R326H; 5:72460520-72460520 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.68C>T; p.P23L; 5:72461429-72461429 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.700G>A; p.V234M; 5:72460797-72460797 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.515C>T; p.T172M; 5:72460982-72460982 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1299G>A; p.P433P; 5:72460198-72460198 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.796T>A; p.Y266N; 5:72460701-72460701 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.748C>T; p.Q250*; 5:72460749-72460749 |
parathyroid | adenoma | Substitution - Nonsense |
c.210C>T; p.V70V; 5:72461287-72461287 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1681C>T; p.R561W; 5:72447261-72447261 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2130G>A; p.R710R; 5:72443861-72443861 |
skin | malignant_melanoma | Substitution - coding silent |
c.182C>T; p.P61L; 5:72461315-72461315 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.776A>G; p.E259G; 5:72460721-72460721 |
liver | carcinoma | Substitution - Missense |
c.776A>G; p.E259G; 5:72460721-72460721 |
liver | carcinoma | Substitution - Missense |
c.2170G>T; p.D724Y; 5:72443821-72443821 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.28G>A; p.D10N; 5:72461469-72461469 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.436G>T; p.G146W; 5:72461061-72461061 |
skin | malignant_melanoma | Substitution - Missense |
c.1426G>A; p.A476T; 5:72456502-72456502 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.746C>T; p.S249L; 5:72460751-72460751 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1158G>A; p.T386T; 5:72460339-72460339 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.821G>A; p.G274D; 5:72460676-72460676 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.793A>G; p.K265E; 5:72460704-72460704 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.692G>A; p.R231K; 5:72460805-72460805 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.903G>A; p.L301L; 5:72460594-72460594 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.840G>A; p.P280P; 5:72460657-72460657 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.840G>A; p.P280P; 5:72460657-72460657 |
oesophagus | carcinoma | Substitution - coding silent |
c.1723C>A; p.L575M; 5:72444268-72444268 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.265A>C; p.N89H; 5:72461232-72461232 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.152C>T; p.P51L; 5:72461345-72461345 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1046C>T; p.P349L; 5:72460451-72460451 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1341G>T; p.K447N; 5:72456587-72456587 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1189G>T; p.E397*; 5:72460308-72460308 |
liver | carcinoma | Substitution - Nonsense |
c.1189G>T; p.E397*; 5:72460308-72460308 |
liver | carcinoma | Substitution - Nonsense |
c.1599C>G; p.F533L; 5:72447343-72447343 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1396C>T; p.R466*; 5:72456532-72456532 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.532C>T; p.P178S; 5:72460965-72460965 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.1847G>A; p.C616Y; 5:72444144-72444144 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1594C>A; p.P532T; 5:72447348-72447348 |
pancreas | carcinoma | Substitution - Missense |
c.231G>A; p.R77R; 5:72461266-72461266 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.846G>A; p.A282A; 5:72460651-72460651 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.538G>T; p.V180F; 5:72460959-72460959 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.591_592insA; p.F198fs*43; 5:72460905-72460906 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1723C>T; p.L575L; 5:72444268-72444268 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1923G>A; p.Q641Q; 5:72444068-72444068 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.837G>C; p.K279N; 5:72460660-72460660 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1785G>T; p.Q595H; 5:72444206-72444206 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.651C>T; p.A217A; 5:72460846-72460846 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1174C>T; p.Q392*; 5:72460323-72460323 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1907C>T; p.A636V; 5:72444084-72444084 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1890C>T; p.P630P; 5:72444101-72444101 |
liver | carcinoma | Substitution - coding silent |
c.1140G>A; p.L380L; 5:72460357-72460357 |
skin | malignant_melanoma | Substitution - coding silent |
c.1890C>T; p.P630P; 5:72444101-72444101 |
liver | carcinoma | Substitution - coding silent |
c.2185G>T; p.E729*; 5:72443806-72443806 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1879G>T; p.E627*; 5:72444112-72444112 |
liver | carcinoma | Substitution - Nonsense |
c.1103T>C; p.V368A; 5:72460394-72460394 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.567C>T; p.F189F; 5:72460930-72460930 |
skin | malignant_melanoma | Substitution - coding silent |
c.567C>T; p.F189F; 5:72460930-72460930 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1503C>T; p.D501D; 5:72456425-72456425 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2034G>A; p.R678R; 5:72443957-72443957 |
prostate | carcinoma | Substitution - coding silent |
c.715G>A; p.D239N; 5:72460782-72460782 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1089C>T; p.R363R; 5:72460408-72460408 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2109G>A; p.R703R; 5:72443882-72443882 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.2047C>A; p.L683I; 5:72443944-72443944 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.359C>T; p.P120L; 5:72461138-72461138 |
liver | carcinoma | Substitution - Missense |
c.359C>T; p.P120L; 5:72461138-72461138 |
skin | malignant_melanoma | Substitution - Missense |
c.359C>T; p.P120L; 5:72461138-72461138 |
liver | carcinoma | Substitution - Missense |
c.1086G>A; p.G362G; 5:72460411-72460411 |
skin | malignant_melanoma | Substitution - coding silent |
c.348C>T; p.F116F; 5:72461149-72461149 |
skin | malignant_melanoma | Substitution - coding silent |
c.1491C>T; p.I497I; 5:72456437-72456437 |
skin | malignant_melanoma | Substitution - coding silent |
c.446C>T; p.P149L; 5:72461051-72461051 |
skin | malignant_melanoma | Substitution - Missense |
c.322G>A; p.G108S; 5:72461175-72461175 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1533G>A; p.G511G; 5:72447409-72447409 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.9G>C; p.K3N; 5:72461488-72461488 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.510G>C; p.L170L; 5:72460987-72460987 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.117C>A; p.P39P; 5:72461380-72461380 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2139T>G; p.S713S; 5:72443852-72443852 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.619C>A; p.Q207K; 5:72460878-72460878 |
central_nervous_system; medulla | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.437G>A; p.G146E; 5:72461060-72461060 |
skin | malignant_melanoma | Substitution - Missense |
c.1889C>T; p.P630L; 5:72444102-72444102 |
skin | malignant_melanoma | Substitution - Missense |
c.859G>T; p.G287W; 5:72460638-72460638 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1298C>T; p.P433L; 5:72460199-72460199 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2148T>G; p.D716E; 5:72443843-72443843 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1883T>C; p.V628A; 5:72444108-72444108 |
liver | carcinoma | Substitution - Missense |
c.167G>A; p.R56Q; 5:72461330-72461330 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1883T>C; p.V628A; 5:72444108-72444108 |
liver | carcinoma | Substitution - Missense |
c.246G>A; p.M82I; 5:72461251-72461251 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2040G>A; p.K680K; 5:72443951-72443951 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.298C>T; p.H100Y; 5:72461199-72461199 |
skin | malignant_melanoma | Substitution - Missense |
c.524C>T; p.P175L; 5:72460973-72460973 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.889C>T; p.H297Y; 5:72460608-72460608 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |