| Gene ID | 1244 |
| Symbol | ABCC2 |
| Synonymous | ABC30|CMOAT|DJS|MRP2|cMRP |
| Full name | ATP-binding cassette, sub-family C (CFTR/MRP), member 2 |
| Gene description | canalicular multidrug resistance protein|canalicular multispecific organic anion transporter 1|multidrug resistance-associated protein 2 |
| Cytoband | 10q24 |
| Gene type | protein-coding |
| Synonymous | MIM:601107; HGNC:HGNC:53; Ensembl:ENSG00000023839; HPRD:03065; Vega:OTTHUMG00000018895 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2446C>T; p.L816F; 10:99819095-99819095 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2079G>T; p.G693G; 10:99813129-99813129 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.3119T>C; p.I1040T; 10:99831992-99831992 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3299G>A; p.R1100H; 10:99834420-99834420 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1666C>A; p.L556M; 10:99807519-99807519 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2732G>A; p.R911Q; 10:99830418-99830418 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1815G>C; p.Q605H; 10:99808229-99808229 |
breast | carcinoma | Substitution - Missense |
c.778C>T; p.R260W; 10:99797242-99797242 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.778C>T; p.R260W; 10:99797242-99797242 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.778C>T; p.R260W; 10:99797242-99797242 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.778C>T; p.R260W; 10:99797242-99797242 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.997G>T; p.D333Y; 10:99799336-99799336 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2767C>T; p.H923Y; 10:99830735-99830735 |
skin | malignant_melanoma | Substitution - Missense |
c.1099T>G; p.L367V; 10:99800453-99800453 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3692A>G; p.D1231G; 10:99842044-99842044 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1099T>G; p.L367V; 10:99800453-99800453 |
liver | carcinoma | Substitution - Missense |
c.4413A>G; p.T1471T; 10:99850701-99850701 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3055_3056CA>AG; p.Q1019R; 10:99831782-99831783 |
skin | malignant_melanoma | Substitution - Missense |
c.1731A>C; p.Q577H; 10:99808145-99808145 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1479G>A; p.K493K; 10:99805396-99805396 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1462C>G; p.Q488E; 10:99804271-99804271 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2826C>T; p.D942D; 10:99830794-99830794 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1831G>A; p.E611K; 10:99810149-99810149 |
skin | malignant_melanoma | Substitution - Missense |
c.1831G>A; p.E611K; 10:99810149-99810149 |
skin | malignant_melanoma | Substitution - Missense |
c.2307C>T; p.I769I; 10:99818825-99818825 |
skin | malignant_melanoma | Substitution - coding silent |
c.1669-8C>T; p.?; 10:99808075-99808075 |
endometrium | carcinoma; serous_carcinoma | Unknown |
c.2164G>A; p.G722R; 10:99817377-99817377 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4600G>A; p.E1534K; 10:99851593-99851593 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3716G>A; p.G1239D; 10:99842068-99842068 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2875A>G; p.T959A; 10:99830843-99830843 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1154G>T; p.C385F; 10:99800508-99800508 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1154G>T; p.C385F; 10:99800508-99800508 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.213C>T; p.F71F; 10:99792239-99792239 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.213C>T; p.F71F; 10:99792239-99792239 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.516C>T; p.Y172Y; 10:99793939-99793939 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2199A>G; p.V733V; 10:99817412-99817412 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2563T>A; p.F855I; 10:99819212-99819212 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.288C>T; p.V96V; 10:99792314-99792314 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4285G>A; p.E1429K; 10:99847099-99847099 |
breast | carcinoma | Substitution - Missense |
c.3926A>G; p.Y1309C; 10:99844404-99844404 |
liver | carcinoma | Substitution - Missense |
c.2281C>A; p.L761I; 10:99818799-99818799 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2955G>A; p.A985A; 10:99831682-99831682 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4121G>A; p.R1374Q; 10:99845757-99845757 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.983T>C; p.L328P; 10:99799322-99799322 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1733A>C; p.K578T; 10:99808147-99808147 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3399T>G; p.I1133M; 10:99834520-99834520 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1034T>C; p.L345S; 10:99800388-99800388 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1882C>T; p.R628*; 10:99810200-99810200 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.704C>T; p.T235I; 10:99797168-99797168 |
skin | malignant_melanoma | Substitution - Missense |
c.1882C>T; p.R628*; 10:99810200-99810200 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1882C>T; p.R628*; 10:99810200-99810200 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1882C>T; p.R628*; 10:99810200-99810200 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.3040G>A; p.D1014N; 10:99831767-99831767 |
skin | malignant_melanoma | Substitution - Missense |
c.3091G>T; p.G1031*; 10:99831818-99831818 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.3972C>T; p.I1324I; 10:99844450-99844450 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3771G>T; p.R1257S; 10:99843828-99843828 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4545C>T; p.C1515C; 10:99851538-99851538 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3972C>T; p.I1324I; 10:99844450-99844450 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4494C>T; p.I1498I; 10:99850782-99850782 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2444G>A; p.R815Q; 10:99819093-99819093 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2444G>A; p.R815Q; 10:99819093-99819093 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4545C>T; p.C1515C; 10:99851538-99851538 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3254C>T; p.A1085V; 10:99832127-99832127 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3372C>T; p.T1124T; 10:99834493-99834493 |
oesophagus | carcinoma | Substitution - coding silent |
c.2778C>T; p.S926S; 10:99830746-99830746 |
skin | malignant_melanoma | Substitution - coding silent |
c.4175G>A; p.R1392K; 10:99846989-99846989 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1071G>A; p.L357L; 10:99800425-99800425 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2766G>A; p.R922R; 10:99830734-99830734 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2118G>A; p.Q706Q; 10:99817331-99817331 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3053C>A; p.S1018Y; 10:99831780-99831780 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1869C>T; p.D623D; 10:99810187-99810187 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.1756T>A; p.F586I; 10:99808170-99808170 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3122C>T; p.A1041V; 10:99831995-99831995 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3122C>T; p.A1041V; 10:99831995-99831995 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2557G>A; p.G853R; 10:99819206-99819206 |
skin | malignant_melanoma | Substitution - Missense |
c.3247A>T; p.R1083W; 10:99832120-99832120 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3212T>G; p.F1071C; 10:99832085-99832085 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1579A>C; p.N527H; 10:99807432-99807432 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2366C>G; p.S789C; 10:99818884-99818884 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.4275G>T; p.G1425G; 10:99847089-99847089 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4356T>C; p.L1452L; 10:99850644-99850644 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3787G>A; p.E1263K; 10:99843844-99843844 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3787G>T; p.E1263*; 10:99843844-99843844 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2571G>T; p.K857N; 10:99819220-99819220 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3847C>A; p.P1283T; 10:99844325-99844325 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.632G>A; p.S211N; 10:99794468-99794468 |
skin | malignant_melanoma | Substitution - Missense |
c.806C>T; p.S269F; 10:99797270-99797270 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1769G>A; p.R590H; 10:99808183-99808183 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1769G>A; p.R590H; 10:99808183-99808183 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1270A>G; p.M424V; 10:99804079-99804079 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2083A>G; p.I695V; 10:99813133-99813133 |
liver | carcinoma | Substitution - Missense |
c.3541C>T; p.R1181*; 10:99836217-99836217 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1109C>T; p.A370V; 10:99800463-99800463 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2083A>G; p.I695V; 10:99813133-99813133 |
liver | carcinoma | Substitution - Missense |
c.1283C>A; p.A428D; 10:99804092-99804092 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2548G>T; p.A850S; 10:99819197-99819197 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3298C>T; p.R1100C; 10:99834419-99834419 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1634T>C; p.V545A; 10:99807487-99807487 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2548G>T; p.A850S; 10:99819197-99819197 |
liver | carcinoma | Substitution - Missense |
c.2548G>T; p.A850S; 10:99819197-99819197 |
liver | carcinoma | Substitution - Missense |
c.131delC; p.W46fs*33; 10:99784705-99784705 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.131delC; p.W46fs*33; 10:99784705-99784705 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.15C>A; p.F5L; 10:99782859-99782859 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.131delC; p.W46fs*33; 10:99784705-99784705 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3706G>A; p.D1236N; 10:99842058-99842058 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1789C>T; p.P597S; 10:99808203-99808203 |
skin | malignant_melanoma | Substitution - Missense |
c.2800C>T; p.R934W; 10:99830768-99830768 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1862A>G; p.D621G; 10:99810180-99810180 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3606C>T; p.T1202T; 10:99836282-99836282 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.904_905insA; p.D304fs*30; 10:99799243-99799244 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.3757A>C; p.N1253H; 10:99843814-99843814 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2827G>A; p.E943K; 10:99830795-99830795 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2827G>A; p.E943K; 10:99830795-99830795 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.450G>A; p.L150L; 10:99793667-99793667 |
NS | NS | Substitution - coding silent |
c.1457C>T; p.T486I; 10:99804266-99804266 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4529G>A; p.G1510E; 10:99851522-99851522 |
skin | malignant_melanoma | Substitution - Missense |
c.1249G>A; p.V417I; 10:99804058-99804058 |
prostate | adenoma | Substitution - Missense |
c.1249G>A; p.V417I; 10:99804058-99804058 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.298C>T; p.R100*; 10:99792324-99792324 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3314G>A; p.C1105Y; 10:99834435-99834435 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.295G>C; p.V99L; 10:99792321-99792321 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2513C>A; p.T838K; 10:99819162-99819162 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2969C>A; p.S990Y; 10:99831696-99831696 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1590G>C; p.K530N; 10:99807443-99807443 |
breast | carcinoma | Substitution - Missense |
c.2701A>G; p.I901V; 10:99830387-99830387 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2624A>G; p.H875R; 10:99830310-99830310 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2152A>C; p.N718H; 10:99817365-99817365 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1433C>T; p.A478V; 10:99804242-99804242 |
prostate | carcinoma | Substitution - Missense |
c.1433C>T; p.A478V; 10:99804242-99804242 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1294A>G; p.M432V; 10:99804103-99804103 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1433C>T; p.A478V; 10:99804242-99804242 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.171G>A; p.K57K; 10:99784745-99784745 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.412C>A; p.L138I; 10:99793629-99793629 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1281T>G; p.D427E; 10:99804090-99804090 |
skin | malignant_melanoma | Substitution - Missense |
c.4156C>A; p.L1386M; 10:99846970-99846970 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.608G>A; p.S203N; 10:99794444-99794444 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.412C>A; p.L138I; 10:99793629-99793629 |
breast | carcinoma | Substitution - Missense |
c.412C>A; p.L138I; 10:99793629-99793629 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.171G>A; p.K57K; 10:99784745-99784745 |
skin | malignant_melanoma | Substitution - coding silent |
c.412C>A; p.L138I; 10:99793629-99793629 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.882G>C; p.K294N; 10:99799221-99799221 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.1091C>T; p.A364V; 10:99800445-99800445 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2473C>A; p.L825I; 10:99819122-99819122 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1091C>T; p.A364V; 10:99800445-99800445 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1091C>T; p.A364V; 10:99800445-99800445 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2448C>A; p.L816L; 10:99819097-99819097 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2689G>T; p.D897Y; 10:99830375-99830375 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Substitution - Missense |
c.2933C>T; p.S978L; 10:99831660-99831660 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2933C>T; p.S978L; 10:99831660-99831660 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2216T>C; p.L739P; 10:99817429-99817429 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3645G>A; p.G1215G; 10:99841997-99841997 |
skin | malignant_melanoma | Substitution - coding silent |
c.1668+7A>T; p.?; 10:99807528-99807528 |
liver | carcinoma | Unknown |
c.3407C>T; p.S1136F; 10:99834528-99834528 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1132C>A; p.L378I; 10:99800486-99800486 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1668+7A>T; p.?; 10:99807528-99807528 |
liver | carcinoma | Unknown |
c.1132C>A; p.L378I; 10:99800486-99800486 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4585T>C; p.Y1529H; 10:99851578-99851578 |
breast | carcinoma | Substitution - Missense |
c.3448C>T; p.R1150C; 10:99836124-99836124 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2727T>G; p.F909L; 10:99830413-99830413 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2367T>C; p.S789S; 10:99818885-99818885 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2367T>C; p.S789S; 10:99818885-99818885 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3477C>A; p.I1159I; 10:99836153-99836153 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1768C>T; p.R590C; 10:99808182-99808182 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2775G>A; p.K925K; 10:99830743-99830743 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.285A>G; p.T95T; 10:99792311-99792311 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.57G>A; p.P19P; 10:99784631-99784631 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3791C>T; p.T1264I; 10:99843848-99843848 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1032-1G>T; p.?; 10:99800385-99800385 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1179G>A; p.R393R; 10:99800533-99800533 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3216_3217insT; p.D1073fs*1; 10:99832089-99832090 |
prostate | carcinoma | Insertion - Frameshift |
c.1179G>A; p.R393R; 10:99800533-99800533 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.2500C>A; p.L834M; 10:99819149-99819149 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3728C>T; p.S1243F; 10:99842080-99842080 |
liver | carcinoma | Substitution - Missense |
c.3568A>T; p.I1190F; 10:99836244-99836244 |
thyroid | carcinoma | Substitution - Missense |
c.3619C>A; p.L1207I; 10:99841971-99841971 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3728C>T; p.S1243F; 10:99842080-99842080 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.984G>A; p.L328L; 10:99799323-99799323 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.293C>T; p.A98V; 10:99792319-99792319 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.3121G>T; p.A1041S; 10:99831994-99831994 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.532A>G; p.I178V; 10:99793955-99793955 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3258C>T; p.G1086G; 10:99832131-99832131 |
bone; femur | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1158C>T; p.F386F; 10:99800512-99800512 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2883+1G>A; p.?; 10:99830852-99830852 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.2731C>T; p.R911*; 10:99830417-99830417 |
skin | malignant_melanoma | Substitution - Nonsense |
c.4045A>G; p.R1349G; 10:99845681-99845681 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2731C>T; p.R911*; 10:99830417-99830417 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.412C>T; p.L138F; 10:99793629-99793629 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2729G>A; p.R910H; 10:99830415-99830415 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2706C>A; p.T902T; 10:99830392-99830392 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.945C>T; p.F315F; 10:99799284-99799284 |
breast | carcinoma | Substitution - coding silent |
c.2647G>A; p.D883N; 10:99830333-99830333 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.898G>A; p.G300R; 10:99799237-99799237 |
thyroid | carcinoma | Substitution - Missense |
c.732G>A; p.T244T; 10:99797196-99797196 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.898G>A; p.G300R; 10:99799237-99799237 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.4210_4212delGAG; p.E1405delE; 10:99847024-99847026 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - In frame |
c.1328C>T; p.S443L; 10:99804137-99804137 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2113C>T; p.P705S; 10:99817326-99817326 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1602G>T; p.K534N; 10:99807455-99807455 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4437C>G; p.I1479M; 10:99850725-99850725 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2365T>C; p.S789P; 10:99818883-99818883 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2365T>C; p.S789P; 10:99818883-99818883 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4437C>G; p.I1479M; 10:99850725-99850725 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1949C>T; p.S650L; 10:99811584-99811584 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1949C>T; p.S650L; 10:99811584-99811584 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1908C>A; p.A636A; 10:99811543-99811543 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.940C>T; p.L314L; 10:99799279-99799279 |
liver | carcinoma | Substitution - coding silent |
c.2923G>T; p.G975*; 10:99831650-99831650 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.3236G>T; p.R1079L; 10:99832109-99832109 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.431C>A; p.T144N; 10:99793648-99793648 |
liver | carcinoma | Substitution - Missense |
c.431C>A; p.T144N; 10:99793648-99793648 |
liver | carcinoma | Substitution - Missense |
c.3812G>A; p.R1271Q; 10:99843869-99843869 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.460_461delCT; p.L155fs*3; 10:99793677-99793678 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4230G>A; p.L1410L; 10:99847044-99847044 |
skin | malignant_melanoma | Substitution - coding silent |
c.1752C>T; p.T584T; 10:99808166-99808166 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.497G>A; p.C166Y; 10:99793920-99793920 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4075A>G; p.I1359V; 10:99845711-99845711 |
liver | carcinoma | Substitution - Missense |
c.2620+1G>A; p.?; 10:99819270-99819270 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.3148G>A; p.V1050I; 10:99832021-99832021 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3738C>G; p.L1246L; 10:99842090-99842090 |
breast | carcinoma | Substitution - coding silent |
c.3545T>G; p.F1182C; 10:99836221-99836221 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1155C>T; p.C385C; 10:99800509-99800509 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4186G>A; p.D1396N; 10:99847000-99847000 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2551A>T; p.K851*; 10:99819200-99819200 |
NS | NS | Substitution - Nonsense |
c.912T>A; p.D304E; 10:99799251-99799251 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3562G>A; p.V1188M; 10:99836238-99836238 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4273G>T; p.G1425W; 10:99847087-99847087 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2148G>T; p.K716N; 10:99817361-99817361 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3628C>T; p.R1210C; 10:99841980-99841980 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3361C>A; p.P1121T; 10:99834482-99834482 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1405G>T; p.V469L; 10:99804214-99804214 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1668+9C>T; p.?; 10:99807530-99807530 |
liver | carcinoma | Unknown |
c.1668+9C>T; p.?; 10:99807530-99807530 |
liver | carcinoma | Unknown |
c.2889G>A; p.K963K; 10:99831616-99831616 |
bone; femur | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.3027C>A; p.I1009I; 10:99831754-99831754 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3027C>A; p.I1009I; 10:99831754-99831754 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2503G>T; p.G835W; 10:99819152-99819152 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.1032-10T>C; p.?; 10:99800376-99800376 |
ovary | other; neoplasm | Unknown |
c.3294C>A; p.S1098S; 10:99834415-99834415 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3294C>A; p.S1098S; 10:99834415-99834415 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.789G>T; p.K263N; 10:99797253-99797253 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2008A>G; p.I670V; 10:99813058-99813058 |
breast | carcinoma | Substitution - Missense |
c.3192C>T; p.I1064I; 10:99832065-99832065 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3436C>T; p.R1146C; 10:99836112-99836112 |
breast | carcinoma | Substitution - Missense |
c.1362C>T; p.F454F; 10:99804171-99804171 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2821G>A; p.E941K; 10:99830789-99830789 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.632+1G>T; p.?; 10:99794469-99794469 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Unknown |
c.908A>T; p.K303I; 10:99799247-99799247 |
pancreas | carcinoma | Substitution - Missense |
c.1883G>A; p.R628Q; 10:99810201-99810201 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.681G>A; p.W227*; 10:99797145-99797145 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3039C>T; p.T1013T; 10:99831766-99831766 |
breast | carcinoma | Substitution - coding silent |
c.196C>A; p.L66I; 10:99784770-99784770 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1745C>T; p.S582F; 10:99808159-99808159 |
skin | malignant_melanoma | Substitution - Missense |
c.4198A>T; p.N1400Y; 10:99847012-99847012 |
ovary | carcinoma | Substitution - Missense |
c.2934G>A; p.S978S; 10:99831661-99831661 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1950G>A; p.S650S; 10:99811585-99811585 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2685C>T; p.P895P; 10:99830371-99830371 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1840G>A; p.E614K; 10:99810158-99810158 |
breast | carcinoma | Substitution - Missense |
c.1950G>A; p.S650S; 10:99811585-99811585 |
liver | carcinoma | Substitution - coding silent |
c.1950G>A; p.S650S; 10:99811585-99811585 |
liver | carcinoma | Substitution - coding silent |
c.2551delA; p.G853fs*7; 10:99819200-99819200 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4349C>T; p.A1450V; 10:99850637-99850637 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3147C>T; p.F1049F; 10:99832020-99832020 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2856T>A; p.I952I; 10:99830824-99830824 |
skin | malignant_melanoma | Substitution - coding silent |
c.2954C>T; p.A985V; 10:99831681-99831681 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.191T>A; p.L64H; 10:99784765-99784765 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.145C>T; p.L49F; 10:99784719-99784719 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2077G>A; p.G693R; 10:99813127-99813127 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1041C>A; p.I347I; 10:99800395-99800395 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2728C>T; p.R910C; 10:99830414-99830414 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2127G>A; p.W709*; 10:99817340-99817340 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.779G>A; p.R260Q; 10:99797243-99797243 |
breast | carcinoma | Substitution - Missense |
c.1002C>A; p.I334I; 10:99799341-99799341 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.455G>A; p.R152Q; 10:99793672-99793672 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.455G>A; p.R152Q; 10:99793672-99793672 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1959A>T; p.T653T; 10:99811594-99811594 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.455G>A; p.R152Q; 10:99793672-99793672 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2064delG; p.E689fs*27; 10:99813114-99813114 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2368G>T; p.A790S; 10:99818886-99818886 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.913G>C; p.V305L; 10:99799252-99799252 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1342A>C; p.I448L; 10:99804151-99804151 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2322T>A; p.A774A; 10:99818840-99818840 |
kidney | other; neoplasm | Substitution - coding silent |
c.2686G>A; p.E896K; 10:99830372-99830372 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4473C>T; p.I1491I; 10:99850761-99850761 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3767T>G; p.V1256G; 10:99843824-99843824 |
thyroid | other; neoplasm | Substitution - Missense |
c.572C>A; p.S191*; 10:99793995-99793995 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.4085G>C; p.G1362A; 10:99845721-99845721 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.164G>T; p.R55M; 10:99784738-99784738 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |