| Gene ID | 5340 |
| Symbol | PLG |
| Synonymous | - |
| Full name | plasminogen |
| Gene description | plasmin |
| Cytoband | 6q26 |
| Gene type | protein-coding |
| Synonymous | MIM:173350; HGNC:HGNC:9071; Ensembl:ENSG00000122194; HPRD:01417; Vega:OTTHUMG00000015957 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1200T>C; p.S400S; 6:160722511-160722511 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1656C>T; p.Y552Y; 6:160734063-160734063 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1656C>T; p.Y552Y; 6:160734063-160734063 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.316G>A; p.G106R; 6:160711100-160711100 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1993G>C; p.D665H; 6:160739183-160739183 |
breast | carcinoma | Substitution - Missense |
c.165G>A; p.E55E; 6:160706522-160706522 |
skin | malignant_melanoma | Substitution - coding silent |
c.1157G>A; p.R386Q; 6:160722468-160722468 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.957G>A; p.L319L; 6:160718699-160718699 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1157G>A; p.R386Q; 6:160722468-160722468 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1157G>A; p.R386Q; 6:160722468-160722468 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.172G>T; p.E58*; 6:160706529-160706529 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.957G>A; p.L319L; 6:160718699-160718699 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.571G>T; p.E191*; 6:160714817-160714817 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.1461A>T; p.K487N; 6:160731767-160731767 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2157C>T; p.A719A; 6:160752146-160752146 |
skin | malignant_melanoma | Substitution - coding silent |
c.2157C>T; p.A719A; 6:160752146-160752146 |
skin | malignant_melanoma | Substitution - coding silent |
c.346T>C; p.S116P; 6:160711130-160711130 |
skin | malignant_melanoma | Substitution - Missense |
c.2083G>A; p.D695N; 6:160741375-160741375 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.480G>T; p.Q160H; 6:160713058-160713058 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2281G>A; p.G761R; 6:160752909-160752909 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1077G>A; p.T359T; 6:160718819-160718819 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1077G>A; p.T359T; 6:160718819-160718819 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1168_1169insCCA; p.T394_G395insT; 6:160722479-160722480 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - In frame |
c.783C>A; p.R261R; 6:160716759-160716759 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1875G>C; p.E625D; 6:160738610-160738610 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2240G>A; p.G747E; 6:160752229-160752229 |
breast | carcinoma | Substitution - Missense |
c.583G>A; p.G195S; 6:160714829-160714829 |
pancreas | carcinoma | Substitution - Missense |
c.583G>A; p.G195S; 6:160714829-160714829 |
pancreas | carcinoma | Substitution - Missense |
c.583G>A; p.G195S; 6:160714829-160714829 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1851G>T; p.V617V; 6:160738586-160738586 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1732C>T; p.P578S; 6:160736937-160736937 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1183G>A; p.G395R; 6:160722494-160722494 |
skin; hand | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.763G>A; p.E255K; 6:160716739-160716739 |
skin; axilla | malignant_melanoma | Substitution - Missense |
c.288G>T; p.K96N; 6:160707802-160707802 |
breast | carcinoma | Substitution - Missense |
c.1066C>T; p.P356S; 6:160718808-160718808 |
skin | malignant_melanoma | Substitution - Missense |
c.811C>T; p.P271S; 6:160718317-160718317 |
skin | malignant_melanoma | Substitution - Missense |
c.2163C>T; p.L721L; 6:160752152-160752152 |
skin | malignant_melanoma | Substitution - coding silent |
c.984C>A; p.D328E; 6:160718726-160718726 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1294G>C; p.D432H; 6:160731088-160731088 |
skin | malignant_melanoma | Substitution - Missense |
c.139G>A; p.E47K; 6:160706496-160706496 |
skin | malignant_melanoma | Substitution - Missense |
c.139G>A; p.E47K; 6:160706496-160706496 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.1003T>C; p.C335R; 6:160718745-160718745 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2227G>A; p.E743K; 6:160752216-160752216 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2227G>A; p.E743K; 6:160752216-160752216 |
skin | malignant_melanoma | Substitution - Missense |
c.1909C>A; p.L637M; 6:160739099-160739099 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2227G>A; p.E743K; 6:160752216-160752216 |
skin | malignant_melanoma | Substitution - Missense |
c.761G>T; p.W254L; 6:160716737-160716737 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.457A>G; p.R153G; 6:160713035-160713035 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.832G>A; p.G278R; 6:160718338-160718338 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1896C>A; p.S632S; 6:160739086-160739086 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2079C>T; p.V693V; 6:160741371-160741371 |
skin | malignant_melanoma | Substitution - coding silent |
c.667A>T; p.K223*; 6:160714913-160714913 |
skin | malignant_melanoma | Substitution - Nonsense |
c.475C>T; p.P159S; 6:160713053-160713053 |
skin | malignant_melanoma | Substitution - Missense |
c.2079C>T; p.V693V; 6:160741371-160741371 |
skin | malignant_melanoma | Substitution - coding silent |
c.745G>A; p.D249N; 6:160716721-160716721 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.436G>A; p.G146R; 6:160713014-160713014 |
skin | malignant_melanoma | Substitution - Missense |
c.911C>T; p.P304L; 6:160718417-160718417 |
skin | malignant_melanoma | Substitution - Missense |
c.143A>G; p.E48G; 6:160706500-160706500 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2384G>A; p.R795H; 6:160753012-160753012 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1377G>C; p.A459A; 6:160731171-160731171 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2082T>C; p.A694A; 6:160741374-160741374 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2082T>C; p.A694A; 6:160741374-160741374 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.143A>G; p.E48G; 6:160706500-160706500 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.386C>T; p.S129F; 6:160711170-160711170 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.864T>A; p.A288A; 6:160718370-160718370 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1674T>C; p.P558P; 6:160734081-160734081 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2129C>A; p.T710N; 6:160752118-160752118 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.10A>G; p.K4E; 6:160702314-160702314 |
skin | malignant_melanoma | Substitution - Missense |
c.22C>A; p.L8I; 6:160702326-160702326 |
breast | carcinoma | Substitution - Missense |
c.1990A>C; p.K664Q; 6:160739180-160739180 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.972C>T; p.C324C; 6:160718714-160718714 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2087G>A; p.R696Q; 6:160741379-160741379 |
breast | carcinoma | Substitution - Missense |
c.1582A>T; p.K528*; 6:160731888-160731888 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.2183T>C; p.V728A; 6:160752172-160752172 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.908C>A; p.T303N; 6:160718414-160718414 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2059C>G; p.P687A; 6:160741351-160741351 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1579_1580insA; p.N529fs*5; 6:160731885-160731886 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1458G>A; p.G486G; 6:160731764-160731764 |
skin | malignant_melanoma | Substitution - coding silent |
c.876C>T; p.S292S; 6:160718382-160718382 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.876C>T; p.S292S; 6:160718382-160718382 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1458G>A; p.G486G; 6:160731764-160731764 |
skin; upper_arm | malignant_melanoma | Substitution - coding silent |
c.1051T>A; p.S351T; 6:160718793-160718793 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; large_cell | Substitution - Missense |
c.2304G>T; p.E768D; 6:160752932-160752932 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2156C>T; p.A719V; 6:160752145-160752145 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2156C>T; p.A719V; 6:160752145-160752145 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2249C>T; p.A750V; 6:160752238-160752238 |
skin; upper_back | malignant_melanoma | Substitution - Missense |
c.966C>A; p.N322K; 6:160718708-160718708 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>A; p.R242Q; 6:160716701-160716701 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>A; p.R242Q; 6:160716701-160716701 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.248C>T; p.S83F; 6:160707762-160707762 |
skin | malignant_melanoma | Substitution - Missense |
c.1269G>A; p.M423I; 6:160731063-160731063 |
skin | malignant_melanoma | Substitution - Missense |
c.1032G>A; p.W344*; 6:160718774-160718774 |
skin; trunk | malignant_melanoma | Substitution - Nonsense |
c.2018+7G>T; p.?; 6:160739215-160739215 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Unknown |
c.1408C>T; p.L470F; 6:160731202-160731202 |
skin | malignant_melanoma | Substitution - Missense |
c.1321G>A; p.D441N; 6:160731115-160731115 |
skin | malignant_melanoma | Substitution - Missense |
c.216A>G; p.Q72Q; 6:160707730-160707730 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1049C>T; p.P350L; 6:160718791-160718791 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1156C>T; p.R386*; 6:160722467-160722467 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1683G>A; p.A561A; 6:160736888-160736888 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.449A>T; p.N150I; 6:160713027-160713027 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.637A>G; p.S213G; 6:160714883-160714883 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.74A>G; p.Y25C; 6:160706431-160706431 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.600C>A; p.T200T; 6:160714846-160714846 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1111A>G; p.T371A; 6:160722422-160722422 |
bone; ilium | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.870C>T; p.T290T; 6:160718376-160718376 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.870C>T; p.T290T; 6:160718376-160718376 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.716G>A; p.R239K; 6:160716692-160716692 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2024C>T; p.A675V; 6:160741316-160741316 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1438+2T>C; p.?; 6:160731234-160731234 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1993G>T; p.D665Y; 6:160739183-160739183 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2323C>A; p.Q775K; 6:160752951-160752951 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1396C>T; p.P466S; 6:160731190-160731190 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.92C>T; p.A31V; 6:160706449-160706449 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2191C>T; p.R731C; 6:160752180-160752180 |
skin | malignant_melanoma | Substitution - Missense |
c.646G>T; p.A216S; 6:160714892-160714892 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1595G>A; p.R532H; 6:160734002-160734002 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.187G>A; p.A63T; 6:160707701-160707701 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.342G>T; p.T114T; 6:160711126-160711126 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1765C>A; p.P589T; 6:160736970-160736970 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.546A>C; p.E182D; 6:160713124-160713124 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1785A>G; p.Q595Q; 6:160736990-160736990 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1256+1G>A; p.?; 6:160722568-160722568 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.628G>T; p.D210Y; 6:160714874-160714874 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.312G>A; p.K104K; 6:160711096-160711096 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.628G>T; p.D210Y; 6:160714874-160714874 |
ovary | carcinoma | Substitution - Missense |
c.1974C>A; p.F658L; 6:160739164-160739164 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2026G>A; p.V676I; 6:160741318-160741318 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.984C>T; p.D328D; 6:160718726-160718726 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1892C>G; p.S631*; 6:160739082-160739082 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.984C>T; p.D328D; 6:160718726-160718726 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.931C>G; p.P311A; 6:160718437-160718437 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.13G>A; p.E5K; 6:160702317-160702317 |
skin | malignant_melanoma | Substitution - Missense |
c.13G>A; p.E5K; 6:160702317-160702317 |
skin | malignant_melanoma | Substitution - Missense |
c.2012T>A; p.L671Q; 6:160739202-160739202 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2113G>A; p.G705R; 6:160741405-160741405 |
skin | malignant_melanoma | Substitution - Missense |
c.1070T>A; p.V357E; 6:160718812-160718812 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.163G>T; p.E55*; 6:160706520-160706520 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.548-1G>C; p.?; 6:160714793-160714793 |
breast | carcinoma | Unknown |
c.459G>A; p.R153R; 6:160713037-160713037 |
skin | malignant_melanoma | Substitution - coding silent |
c.218G>A; p.C73Y; 6:160707732-160707732 |
breast | carcinoma | Substitution - Missense |
c.1691C>T; p.S564L; 6:160736896-160736896 |
skin | malignant_melanoma | Substitution - Missense |
c.973C>A; p.R325S; 6:160718715-160718715 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.335G>T; p.R112I; 6:160711119-160711119 |
liver | carcinoma | Substitution - Missense |
c.335G>T; p.R112I; 6:160711119-160711119 |
liver | carcinoma | Substitution - Missense |
c.1292C>T; p.A431V; 6:160731086-160731086 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.266G>C; p.R89T; 6:160707780-160707780 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1548C>T; p.F516F; 6:160731854-160731854 |
skin | malignant_melanoma | Substitution - coding silent |
c.1292C>T; p.A431V; 6:160731086-160731086 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1395G>A; p.P465P; 6:160731189-160731189 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.583G>T; p.G195C; 6:160714829-160714829 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.549G>A; p.E183E; 6:160714795-160714795 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.855G>A; p.G285G; 6:160718361-160718361 |
skin | malignant_melanoma | Substitution - coding silent |
c.509A>C; p.E170A; 6:160713087-160713087 |
thyroid | carcinoma | Substitution - Missense |
c.1849G>A; p.V617M; 6:160738584-160738584 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2349C>T; p.G783G; 6:160752977-160752977 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2019-1G>C; p.?; 6:160741310-160741310 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1562A>C; p.N521T; 6:160731868-160731868 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.758G>A; p.R253H; 6:160716734-160716734 |
pancreas | carcinoma | Substitution - Missense |
c.853G>A; p.G285R; 6:160718359-160718359 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.758G>A; p.R253H; 6:160716734-160716734 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.354A>G; p.T118T; 6:160711138-160711138 |
skin | malignant_melanoma | Substitution - coding silent |
c.2128A>T; p.T710S; 6:160752117-160752117 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.477G>A; p.P159P; 6:160713055-160713055 |
pancreas | carcinoma | Substitution - coding silent |
c.1682-1G>A; p.?; 6:160736886-160736886 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.2065C>A; p.P689T; 6:160741357-160741357 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2075T>C; p.V692A; 6:160741367-160741367 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1115C>T; p.P372L; 6:160722426-160722426 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.49+5G>T; p.?; 6:160702358-160702358 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.479A>G; p.Q160R; 6:160713057-160713057 |
pancreas | carcinoma | Substitution - Missense |
c.1745T>C; p.V582A; 6:160736950-160736950 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1881C>T; p.S627S; 6:160739071-160739071 |
skin | malignant_melanoma | Substitution - coding silent |
c.1881C>T; p.S627S; 6:160739071-160739071 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - coding silent |
c.625T>A; p.W209R; 6:160714871-160714871 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1294G>A; p.D432N; 6:160731088-160731088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.942C>T; p.F314F; 6:160718448-160718448 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1294G>A; p.D432N; 6:160731088-160731088 |
skin | malignant_melanoma | Substitution - Missense |
c.1324C>A; p.P442T; 6:160731118-160731118 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1438+7A>G; p.?; 6:160731239-160731239 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.1887G>C; p.R629S; 6:160739077-160739077 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1957G>A; p.E653K; 6:160739147-160739147 |
NS | malignant_melanoma | Substitution - Missense |
c.1304C>G; p.P435R; 6:160731098-160731098 |
liver | carcinoma | Substitution - Missense |
c.1957G>A; p.E653K; 6:160739147-160739147 |
NS | malignant_melanoma | Substitution - Missense |
c.2378A>C; p.Y793S; 6:160753006-160753006 |
skin | malignant_melanoma | Substitution - Missense |
c.938A>C; p.N313T; 6:160718444-160718444 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.168C>T; p.D56D; 6:160706525-160706525 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.2427_2430delTAAT; p.N810fs?; 6:160753055-160753058 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.950+1G>T; p.?; 6:160718457-160718457 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.1944T>A; p.H648Q; 6:160739134-160739134 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.582C>T; p.D194D; 6:160714828-160714828 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.168C>T; p.D56D; 6:160706525-160706525 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.168C>T; p.D56D; 6:160706525-160706525 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1330G>A; p.V444I; 6:160731124-160731124 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1330G>A; p.V444I; 6:160731124-160731124 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.851G>A; p.R284H; 6:160718357-160718357 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.354delA; p.N120fs*110; 6:160711138-160711138 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1330G>A; p.V444I; 6:160731124-160731124 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.851G>A; p.R284H; 6:160718357-160718357 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.627G>A; p.W209*; 6:160714873-160714873 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1330G>A; p.V444I; 6:160731124-160731124 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.626G>T; p.W209L; 6:160714872-160714872 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1078G>A; p.E360K; 6:160718820-160718820 |
breast | carcinoma | Substitution - Missense |
c.747C>A; p.D249E; 6:160716723-160716723 |
breast | carcinoma | Substitution - Missense |
c.875C>G; p.S292C; 6:160718381-160718381 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1951G>A; p.E651K; 6:160739141-160739141 |
skin | malignant_melanoma | Substitution - Missense |
c.1951G>A; p.E651K; 6:160739141-160739141 |
skin | malignant_melanoma | Substitution - Missense |
c.528C>T; p.C176C; 6:160713106-160713106 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1001G>A; p.W334*; 6:160718743-160718743 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.496A>T; p.T166S; 6:160713074-160713074 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.509A>T; p.E170V; 6:160713087-160713087 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.632C>T; p.S211F; 6:160714878-160714878 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1278C>T; p.C426C; 6:160731072-160731072 |
breast | carcinoma | Substitution - coding silent |
c.1573G>T; p.G525C; 6:160731879-160731879 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.293-1G>C; p.?; 6:160711076-160711076 |
skin | malignant_melanoma | Unknown |
c.1184G>A; p.G395E; 6:160722495-160722495 |
NS | malignant_melanoma | Substitution - Missense |
c.506C>G; p.P169R; 6:160713084-160713084 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.341C>T; p.T114M; 6:160711125-160711125 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1184G>A; p.G395E; 6:160722495-160722495 |
skin | malignant_melanoma | Substitution - Missense |
c.1505G>A; p.C502Y; 6:160731811-160731811 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.422C>A; p.T141K; 6:160713000-160713000 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1431C>T; p.S477S; 6:160731225-160731225 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1247A>G; p.Y416C; 6:160722558-160722558 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1977G>A; p.L659L; 6:160739167-160739167 |
skin | malignant_melanoma | Substitution - coding silent |
c.561T>C; p.H187H; 6:160714807-160714807 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1397C>T; p.P466L; 6:160731191-160731191 |
skin | malignant_melanoma | Substitution - Missense |
c.794C>T; p.P265L; 6:160718300-160718300 |
skin | malignant_melanoma | Substitution - Missense |
c.986G>A; p.G329E; 6:160718728-160718728 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.986G>A; p.G329E; 6:160718728-160718728 |
skin | malignant_melanoma | Substitution - Missense |
c.426delC; p.S144fs*86; 6:160713004-160713004 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.472G>A; p.D158N; 6:160713050-160713050 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.472G>A; p.D158N; 6:160713050-160713050 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1388C>A; p.A463E; 6:160731182-160731182 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1657G>A; p.D553N; 6:160734064-160734064 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1646G>T; p.R549I; 6:160734053-160734053 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1838C>T; p.S613F; 6:160738573-160738573 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1657G>A; p.D553N; 6:160734064-160734064 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2250C>T; p.A750A; 6:160752239-160752239 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2041G>T; p.V681L; 6:160741333-160741333 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1388C>A; p.A463E; 6:160731182-160731182 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1936G>A; p.E646K; 6:160739126-160739126 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1595G>C; p.R532P; 6:160734002-160734002 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2332A>G; p.T778A; 6:160752960-160752960 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2358C>T; p.R786R; 6:160752986-160752986 |
skin | malignant_melanoma | Substitution - coding silent |
c.704G>A; p.R235H; 6:160716680-160716680 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.240G>A; p.R80R; 6:160707754-160707754 |
breast | carcinoma | Substitution - coding silent |
c.949A>G; p.K317E; 6:160718455-160718455 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.704G>A; p.R235H; 6:160716680-160716680 |
prostate | carcinoma | Substitution - Missense |
c.2226C>T; p.T742T; 6:160752215-160752215 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.2137G>A; p.A713T; 6:160752126-160752126 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1725G>T; p.K575N; 6:160736930-160736930 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2322A>C; p.L774F; 6:160752950-160752950 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2161C>T; p.L721F; 6:160752150-160752150 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.645C>G; p.H215Q; 6:160714891-160714891 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1476G>C; p.K492N; 6:160731782-160731782 |
parathyroid | carcinoma | Substitution - Missense |
c.4G>A; p.E2K; 6:160702308-160702308 |
skin | malignant_melanoma | Substitution - Missense |
c.1988G>A; p.R663Q; 6:160739178-160739178 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1618G>A; p.G540S; 6:160734025-160734025 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1988G>A; p.R663Q; 6:160739178-160739178 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1988G>A; p.R663Q; 6:160739178-160739178 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.1988G>A; p.R663Q; 6:160739178-160739178 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1988G>A; p.R663Q; 6:160739178-160739178 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2175G>T; p.E725D; 6:160752164-160752164 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1988G>A; p.R663Q; 6:160739178-160739178 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2119A>T; p.T707S; 6:160741411-160741411 |
skin | malignant_melanoma | Substitution - Missense |
c.1742T>C; p.V581A; 6:160736947-160736947 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1977_1978GG>AA; p.E660K; 6:160739167-160739168 |
skin | malignant_melanoma | Substitution - Missense |
c.2080G>T; p.A694S; 6:160741372-160741372 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1642C>T; p.P548S; 6:160734049-160734049 |
skin | malignant_melanoma | Substitution - Missense |
c.1977_1978GG>AA; p.E660K; 6:160739167-160739168 |
skin | malignant_melanoma | Substitution - Missense |
c.370T>C; p.C124R; 6:160711154-160711154 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>C; p.C176S; 6:160713105-160713105 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1353_1354insA; p.C454fs*59; 6:160731147-160731148 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1704G>A; p.G568G; 6:160736909-160736909 |
skin | malignant_melanoma | Substitution - coding silent |
c.1233G>A; p.K411K; 6:160722544-160722544 |
skin | malignant_melanoma | Substitution - coding silent |
c.1247A>T; p.Y416F; 6:160722558-160722558 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1339G>A; p.E447K; 6:160731133-160731133 |
skin | malignant_melanoma | Substitution - Missense |
c.1503A>G; p.P501P; 6:160731809-160731809 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.901G>T; p.A301S; 6:160718407-160718407 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.744C>A; p.T248T; 6:160716720-160716720 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1588T>C; p.Y530H; 6:160733995-160733995 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1256C>T; p.A419V; 6:160722567-160722567 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2241G>A; p.G747G; 6:160752230-160752230 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1256C>T; p.A419V; 6:160722567-160722567 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.199C>T; p.H67Y; 6:160707713-160707713 |
skin; abdomen | malignant_melanoma | Substitution - Missense |
c.481G>T; p.G161W; 6:160713059-160713059 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.724C>T; p.R242W; 6:160716700-160716700 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2356C>T; p.R786C; 6:160752984-160752984 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.744C>T; p.T248T; 6:160716720-160716720 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.744C>T; p.T248T; 6:160716720-160716720 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1682C>T; p.A561V; 6:160736887-160736887 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.744C>T; p.T248T; 6:160716720-160716720 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2164C>A; p.P722T; 6:160752153-160752153 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.172G>A; p.E58K; 6:160706529-160706529 |
skin | malignant_melanoma | Substitution - Missense |
c.544G>A; p.E182K; 6:160713122-160713122 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.172G>A; p.E58K; 6:160706529-160706529 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2134G>A; p.G712R; 6:160752123-160752123 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.471C>T; p.N157N; 6:160713049-160713049 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.673C>T; p.P225S; 6:160716649-160716649 |
skin | malignant_melanoma | Substitution - Missense |
c.529G>A; p.D177N; 6:160713107-160713107 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.529G>A; p.D177N; 6:160713107-160713107 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2286T>G; p.G762G; 6:160752914-160752914 |
breast | carcinoma | Substitution - coding silent |
c.1588-8G>T; p.?; 6:160733987-160733987 |
stomach | adenocarcinoma | Unknown |
c.638G>A; p.S213N; 6:160714884-160714884 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1264A>T; p.T422S; 6:160731058-160731058 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.859G>C; p.V287L; 6:160718365-160718365 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.807T>A; p.S269S; 6:160718313-160718313 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1987C>T; p.R663*; 6:160739177-160739177 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1987C>T; p.R663*; 6:160739177-160739177 |
large_intestine | adenoma | Substitution - Nonsense |