| Gene ID | 7153 |
| Symbol | TOP2A |
| Synonymous | TOP2|TP2A |
| Full name | topoisomerase (DNA) II alpha 170kDa |
| Gene description | DNA gyrase|DNA topoisomerase (ATP-hydrolyzing)|DNA topoisomerase 2-alpha|DNA topoisomerase II, 170 kD|DNA topoisomerase II, alpha isozyme |
| Cytoband | 17q21-q22 |
| Gene type | protein-coding |
| Synonymous | MIM:126430; HGNC:HGNC:11989; Ensembl:ENSG00000131747; HPRD:00536; Vega:OTTHUMG00000155008 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.3047T>C; p.L1016S; 17:40400021-40400021 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1667T>G; p.F556C; 17:40406902-40406902 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1310G>A; p.G437E; 17:40408524-40408524 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.2267C>T; p.S756F; 17:40404168-40404168 |
skin | malignant_melanoma | Substitution - Missense |
c.3733G>A; p.E1245K; 17:40395527-40395527 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4539A>G; p.V1513V; 17:40389576-40389576 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2474C>T; p.T825M; 17:40401040-40401040 |
kidney | other; neoplasm | Substitution - Missense |
c.3176T>C; p.I1059T; 17:40399892-40399892 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.763G>A; p.V255I; 17:40412785-40412785 |
skin | malignant_melanoma | Substitution - Missense |
c.763G>A; p.V255I; 17:40412785-40412785 |
skin | malignant_melanoma | Substitution - Missense |
c.1626+3C>G; p.?; 17:40407546-40407546 |
ovary | other; neoplasm | Unknown |
c.3618A>C; p.Q1206H; 17:40396385-40396385 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3529G>A; p.E1177K; 17:40398566-40398566 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1166G>A; p.G389E; 17:40411146-40411146 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1012G>T; p.V338F; 17:40411407-40411407 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2229G>T; p.K743N; 17:40404206-40404206 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.3627A>C; p.E1209D; 17:40396376-40396376 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2229G>T; p.K743N; 17:40404206-40404206 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.879A>G; p.V293V; 17:40411729-40411729 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4465A>G; p.K1489E; 17:40389967-40389967 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1176C>T; p.C392C; 17:40411136-40411136 |
liver | carcinoma | Substitution - coding silent |
c.1176C>T; p.C392C; 17:40411136-40411136 |
liver | carcinoma | Substitution - coding silent |
c.4417G>T; p.D1473Y; 17:40390015-40390015 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1176C>T; p.C392C; 17:40411136-40411136 |
liver | carcinoma | Substitution - coding silent |
c.1176C>T; p.C392C; 17:40411136-40411136 |
liver | carcinoma | Substitution - coding silent |
c.1167A>G; p.G389G; 17:40411145-40411145 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1063C>A; p.Q355K; 17:40411356-40411356 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.75G>T; p.K25N; 17:40416842-40416842 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4065A>C; p.P1355P; 17:40392241-40392241 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.4065A>C; p.P1355P; 17:40392241-40392241 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.4065A>C; p.P1355P; 17:40392241-40392241 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.95G>T; p.R32I; 17:40416822-40416822 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1165G>A; p.G389R; 17:40411147-40411147 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.918A>G; p.K306K; 17:40411690-40411690 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1594C>T; p.R532C; 17:40407581-40407581 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.464A>T; p.E155V; 17:40413494-40413494 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4383G>T; p.K1461N; 17:40390049-40390049 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3693A>G; p.A1231A; 17:40396310-40396310 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.2425A>G; p.M809V; 17:40402913-40402913 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3279C>T; p.A1093A; 17:40399049-40399049 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1914C>T; p.F638F; 17:40406423-40406423 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2782G>A; p.V928I; 17:40400546-40400546 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.855C>A; p.S285S; 17:40411753-40411753 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.605_606insCTGG; p.E203fs*2; 17:40412942-40412943 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.855C>A; p.S285S; 17:40411753-40411753 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.855C>A; p.S285S; 17:40411753-40411753 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3665G>A; p.R1222Q; 17:40396338-40396338 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2632C>T; p.R878C; 17:40400882-40400882 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4449G>A; p.S1483S; 17:40389983-40389983 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4535C>T; p.S1512F; 17:40389580-40389580 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4449G>A; p.S1483S; 17:40389983-40389983 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3624T>C; p.A1208A; 17:40396379-40396379 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3624T>C; p.A1208A; 17:40396379-40396379 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2920G>T; p.E974*; 17:40400289-40400289 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2738T>C; p.V913A; 17:40400590-40400590 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1727C>T; p.P576L; 17:40406842-40406842 |
skin | malignant_melanoma | Substitution - Missense |
c.2015G>C; p.R672T; 17:40404822-40404822 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2472C>A; p.H824Q; 17:40401042-40401042 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1435G>T; p.D479Y; 17:40408032-40408032 |
pancreas | carcinoma | Substitution - Missense |
c.2983C>T; p.L995F; 17:40400226-40400226 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1204-9C>T; p.?; 17:40408639-40408639 |
breast | carcinoma | Unknown |
c.2146C>T; p.P716S; 17:40404392-40404392 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2766A>C; p.E922D; 17:40400562-40400562 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1433G>C; p.R478T; 17:40408034-40408034 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.22-10_22-9insT; p.?; 17:40416904-40416905 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.4274C>T; p.S1425F; 17:40390158-40390158 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2641G>A; p.D881N; 17:40400873-40400873 |
liver | carcinoma | Substitution - Missense |
c.2641G>A; p.D881N; 17:40400873-40400873 |
liver | carcinoma | Substitution - Missense |
c.22-10delT; p.?; 17:40416905-40416905 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.4594delT; p.*1532fs?; 17:40389521-40389521 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3049G>A; p.D1017N; 17:40400019-40400019 |
skin | malignant_melanoma | Substitution - Missense |
c.3388G>C; p.D1130H; 17:40398838-40398838 |
pancreas | carcinoma | Substitution - Missense |
c.3800A>G; p.K1267R; 17:40395460-40395460 |
liver | carcinoma | Substitution - Missense |
c.3447T>G; p.N1149K; 17:40398779-40398779 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.265C>A; p.L89I; 17:40416425-40416425 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.769C>T; p.L257F; 17:40412779-40412779 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1323C>T; p.L441L; 17:40408511-40408511 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.764T>C; p.V255A; 17:40412784-40412784 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.764T>C; p.V255A; 17:40412784-40412784 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.764T>C; p.V255A; 17:40412784-40412784 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3134C>T; p.S1045F; 17:40399934-40399934 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3580C>T; p.P1194S; 17:40396423-40396423 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3134C>T; p.S1045F; 17:40399934-40399934 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1264C>T; p.Q422*; 17:40408570-40408570 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2737G>A; p.V913I; 17:40400591-40400591 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.684G>A; p.M228I; 17:40412864-40412864 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4268G>T; p.S1423I; 17:40390164-40390164 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3190A>G; p.I1064V; 17:40399878-40399878 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3190A>G; p.I1064V; 17:40399878-40399878 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3190A>G; p.I1064V; 17:40399878-40399878 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2475G>A; p.T825T; 17:40401039-40401039 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3190A>G; p.I1064V; 17:40399878-40399878 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3190A>G; p.I1064V; 17:40399878-40399878 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3190A>G; p.I1064V; 17:40399878-40399878 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3190A>G; p.I1064V; 17:40399878-40399878 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1455T>C; p.P485P; 17:40408012-40408012 |
pancreas | carcinoma | Substitution - coding silent |
c.1455T>C; p.P485P; 17:40408012-40408012 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.963+8T>C; p.?; 17:40411637-40411637 |
liver | carcinoma | Unknown |
c.772A>T; p.N258Y; 17:40412776-40412776 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.963+8T>C; p.?; 17:40411637-40411637 |
liver | carcinoma | Unknown |
c.1474A>G; p.N492D; 17:40407993-40407993 |
liver | carcinoma | Substitution - Missense |
c.3879C>T; p.P1293P; 17:40392670-40392670 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4448C>T; p.S1483L; 17:40389984-40389984 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1063C>G; p.Q355E; 17:40411356-40411356 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.870T>C; p.H290H; 17:40411738-40411738 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2206C>A; p.R736R; 17:40404229-40404229 |
liver | carcinoma | Substitution - coding silent |
c.3324C>T; p.N1108N; 17:40398902-40398902 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.14C>T; p.P5L; 17:40417778-40417778 |
skin | malignant_melanoma | Substitution - Missense |
c.51A>C; p.K17N; 17:40416866-40416866 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4541G>T; p.R1514L; 17:40389574-40389574 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.581_582insACATG; p.W194fs*1; 17:40412966-40412967 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.2620A>C; p.N874H; 17:40400894-40400894 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3693A>C; p.A1231A; 17:40396310-40396310 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.137G>C; p.R46P; 17:40416780-40416780 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1858_1859insAGCA; p.T620fs*7; 17:40406478-40406479 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.3498G>T; p.L1166F; 17:40398597-40398597 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2609G>A; p.R870H; 17:40400905-40400905 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3498G>T; p.L1166F; 17:40398597-40398597 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4008C>A; p.F1336L; 17:40392298-40392298 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3350C>T; p.S1117F; 17:40398876-40398876 |
skin | malignant_melanoma | Substitution - Missense |
c.636_638delAGA; p.E212delE; 17:40412910-40412912 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.4303delA; p.R1435fs*13; 17:40390129-40390129 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4303delA; p.R1435fs*13; 17:40390129-40390129 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4303delA; p.R1435fs*13; 17:40390129-40390129 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1064A>G; p.Q355R; 17:40411355-40411355 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3870G>A; p.K1290K; 17:40392679-40392679 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2863A>G; p.T955A; 17:40400346-40400346 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3664C>T; p.R1222*; 17:40396339-40396339 |
breast | carcinoma | Substitution - Nonsense |
c.4353C>T; p.V1451V; 17:40390079-40390079 |
skin | malignant_melanoma | Substitution - coding silent |
c.3103G>T; p.E1035*; 17:40399965-40399965 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3103G>T; p.E1035*; 17:40399965-40399965 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3103G>T; p.E1035*; 17:40399965-40399965 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2632C>A; p.R878S; 17:40400882-40400882 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2763T>C; p.I921I; 17:40400565-40400565 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3613delA; p.T1205fs*19; 17:40396390-40396390 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3613delA; p.T1205fs*19; 17:40396390-40396390 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3613delA; p.T1205fs*19; 17:40396390-40396390 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3613delA; p.T1205fs*19; 17:40396390-40396390 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3613delA; p.T1205fs*19; 17:40396390-40396390 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3613delA; p.T1205fs*19; 17:40396390-40396390 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.525C>A; p.T175T; 17:40413246-40413246 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3693A>T; p.A1231A; 17:40396310-40396310 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4476G>A; p.K1492K; 17:40389639-40389639 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4387C>T; p.R1463C; 17:40390045-40390045 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3380A>G; p.Y1127C; 17:40398846-40398846 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.570C>G; p.F190L; 17:40413201-40413201 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1015G>A; p.D339N; 17:40411404-40411404 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.570C>G; p.F190L; 17:40413201-40413201 |
breast | carcinoma | Substitution - Missense |
c.550A>T; p.R184*; 17:40413221-40413221 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.3725A>G; p.E1242G; 17:40395535-40395535 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1040G>A; p.G347D; 17:40411379-40411379 |
skin | malignant_melanoma | Substitution - Missense |
c.1193T>G; p.F398C; 17:40411119-40411119 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3061G>T; p.D1021Y; 17:40400007-40400007 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3214G>A; p.E1072K; 17:40399114-40399114 |
pancreas | carcinoma | Substitution - Missense |
c.2593C>T; p.P865S; 17:40400921-40400921 |
skin | malignant_melanoma | Substitution - Missense |
c.2175T>G; p.G725G; 17:40404260-40404260 |
liver | carcinoma | Substitution - coding silent |
c.2175T>G; p.G725G; 17:40404260-40404260 |
liver | carcinoma | Substitution - coding silent |
c.1838A>G; p.Y613C; 17:40406589-40406589 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3351C>A; p.S1117S; 17:40398875-40398875 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3401G>C; p.W1134S; 17:40398825-40398825 |
liver | carcinoma | Substitution - Missense |
c.3401G>C; p.W1134S; 17:40398825-40398825 |
liver | carcinoma | Substitution - Missense |
c.4383G>A; p.K1461K; 17:40390049-40390049 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1362G>T; p.E454D; 17:40408105-40408105 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2559T>C; p.A853A; 17:40400955-40400955 |
breast | carcinoma | Substitution - coding silent |
c.2843A>G; p.E948G; 17:40400366-40400366 |
breast | carcinoma | Substitution - Missense |
c.3350C>G; p.S1117C; 17:40398876-40398876 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.921C>G; p.G307G; 17:40411687-40411687 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1266G>A; p.Q422Q; 17:40408568-40408568 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1426G>T; p.V476F; 17:40408041-40408041 |
prostate | carcinoma | Substitution - Missense |
c.2902T>C; p.F968L; 17:40400307-40400307 |
skin | malignant_melanoma | Substitution - Missense |
c.4327A>C; p.R1443R; 17:40390105-40390105 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.817A>G; p.M273V; 17:40411791-40411791 |
skin | malignant_melanoma | Substitution - Missense |
c.3595A>G; p.K1199E; 17:40396408-40396408 |
thyroid | carcinoma | Substitution - Missense |
c.3640C>T; p.P1214S; 17:40396363-40396363 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3595A>G; p.K1199E; 17:40396408-40396408 |
thyroid | carcinoma | Substitution - Missense |
c.4281C>G; p.T1427T; 17:40390151-40390151 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3691G>A; p.A1231T; 17:40396312-40396312 |
liver | carcinoma | Substitution - Missense |
c.3328A>G; p.K1110E; 17:40398898-40398898 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3691G>A; p.A1231T; 17:40396312-40396312 |
liver | carcinoma | Substitution - Missense |
c.2762T>C; p.I921T; 17:40400566-40400566 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1953+1G>A; p.?; 17:40406383-40406383 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.457G>A; p.D153N; 17:40413501-40413501 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3325G>A; p.E1109K; 17:40398901-40398901 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3325G>A; p.E1109K; 17:40398901-40398901 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2769C>T; p.I923I; 17:40400559-40400559 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1296_1300delTAATA; p.H432fs*10; 17:40408534-40408538 |
pleura | pulmonary_blastoma | Deletion - Frameshift |
c.3867G>T; p.K1289N; 17:40392682-40392682 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3552G>T; p.K1184N; 17:40396451-40396451 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3237G>A; p.Q1079Q; 17:40399091-40399091 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1580C>A; p.S527*; 17:40407595-40407595 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2135A>T; p.E712V; 17:40404403-40404403 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.802C>T; p.R268C; 17:40411806-40411806 |
skin | malignant_melanoma | Substitution - Missense |
c.4259C>A; p.A1420E; 17:40391514-40391514 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.4259C>A; p.A1420E; 17:40391514-40391514 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.39G>A; p.M13I; 17:40416878-40416878 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2435C>T; p.S812F; 17:40401079-40401079 |
skin | malignant_melanoma | Substitution - Missense |
c.1672C>T; p.H558Y; 17:40406897-40406897 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3197-1G>C; p.?; 17:40399132-40399132 |
pancreas | carcinoma | Unknown |
c.3197-1G>C; p.?; 17:40399132-40399132 |
pancreas | carcinoma; ductal_carcinoma | Unknown |
c.1968_1969insA; p.Q657fs*4; 17:40404868-40404869 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1462G>T; p.G488*; 17:40408005-40408005 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1343G>T; p.G448V; 17:40408124-40408124 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1364_1365delGT; p.C455fs*6; 17:40408102-40408103 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Deletion - Frameshift |
c.3878C>T; p.P1293L; 17:40392671-40392671 |
thyroid | other; neoplasm | Substitution - Missense |
c.600_601delAG; p.R200fs*3; 17:40412947-40412948 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.484C>T; p.R162*; 17:40413287-40413287 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.803G>A; p.R268H; 17:40411805-40411805 |
liver | carcinoma | Substitution - Missense |
c.4526G>T; p.R1509L; 17:40389589-40389589 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4480G>T; p.E1494*; 17:40389635-40389635 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.963G>T; p.K321N; 17:40411645-40411645 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3861delA; p.G1288fs*82; 17:40392688-40392688 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1368G>A; p.T456T; 17:40408099-40408099 |
prostate | carcinoma | Substitution - coding silent |
c.854C>T; p.S285F; 17:40411754-40411754 |
skin | malignant_melanoma | Substitution - Missense |
c.3214G>T; p.E1072*; 17:40399114-40399114 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.4354T>C; p.S1452P; 17:40390078-40390078 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1374C>G; p.I458M; 17:40408093-40408093 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.3049G>C; p.D1017H; 17:40400019-40400019 |
pancreas | carcinoma | Substitution - Missense |
c.3049G>C; p.D1017H; 17:40400019-40400019 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.3882G>A; p.W1294*; 17:40392667-40392667 |
thyroid | other; neoplasm | Substitution - Nonsense |
c.3401G>T; p.W1134L; 17:40398825-40398825 |
skin | malignant_melanoma | Substitution - Missense |
c.219G>A; p.R73R; 17:40416471-40416471 |
skin | malignant_melanoma | Substitution - coding silent |