General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 11083 |
Name | DIDO1 |
Synonymous | death inducer-obliterator 1;DIDO1;death inducer-obliterator 1 |
Definition | death-associated transcription factor 1|death-inducer obliterator 1 |
Position | 20q13.33 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
The ratio of the loss-of-function mutations over missense mutations is 0.08. |
The copy number variations for various cancers | Top |
The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
---|---|---|---|
c.1477G>A; p.G493R; 20:62905998-62905998 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4225G>T; p.E1409*; 20:62881731-62881731 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4685A>T; p.Q1562L; 20:62881271-62881271 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4551G>T; p.S1517S; 20:62881405-62881405 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4152A>G; p.P1384P; 20:62881804-62881804 |
breast | carcinoma | Substitution - coding silent |
c.248G>A; p.R83H; 20:62911365-62911365 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1366G>A; p.G456S; 20:62907155-62907155 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3779C>T; p.S1260L; 20:62882177-62882177 |
skin | malignant_melanoma | Substitution - Missense |
c.248G>A; p.R83H; 20:62911365-62911365 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5299C>T; p.H1767Y; 20:62880657-62880657 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6146C>T; p.A2049V; 20:62879810-62879810 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6020C>T; p.S2007L; 20:62879936-62879936 |
skin | malignant_melanoma | Substitution - Missense |
c.5543C>T; p.P1848L; 20:62880413-62880413 |
skin | malignant_melanoma | Substitution - Missense |
c.2647T>C; p.L883L; 20:62894120-62894120 |
pancreas | carcinoma | Substitution - coding silent |
c.6523C>A; p.R2175R; 20:62879433-62879433 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2914C>T; p.P972S; 20:62893853-62893853 |
skin | malignant_melanoma | Substitution - Missense |
c.2914C>T; p.P972S; 20:62893853-62893853 |
skin | malignant_melanoma | Substitution - Missense |
c.6020C>T; p.S2007L; 20:62879936-62879936 |
skin | malignant_melanoma | Substitution - Missense |
c.2647T>C; p.L883L; 20:62894120-62894120 |
pancreas | carcinoma | Substitution - coding silent |
c.2647T>C; p.L883L; 20:62894120-62894120 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.3439G>T; p.G1147C; 20:62891062-62891062 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4605C>G; p.F1535L; 20:62881351-62881351 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1715delC; p.S572fs*67; 20:62896870-62896870 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5652C>T; p.G1884G; 20:62880304-62880304 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1622C>T; p.A541V; 20:62896963-62896963 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1622C>T; p.A541V; 20:62896963-62896963 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5324G>C; p.R1775T; 20:62880632-62880632 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.32A>T; p.E11V; 20:62911581-62911581 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.1702C>T; p.P568S; 20:62896883-62896883 |
skin | malignant_melanoma | Substitution - Missense |
c.2581C>T; p.P861S; 20:62894186-62894186 |
skin | malignant_melanoma | Substitution - Missense |
c.1702C>T; p.P568S; 20:62896883-62896883 |
skin | malignant_melanoma | Substitution - Missense |
c.664G>A; p.D222N; 20:62910949-62910949 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2892C>T; p.S964S; 20:62893875-62893875 |
skin | malignant_melanoma | Substitution - coding silent |
c.633C>T; p.G211G; 20:62910980-62910980 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2892C>T; p.S964S; 20:62893875-62893875 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.633C>T; p.G211G; 20:62910980-62910980 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3986A>T; p.D1329V; 20:62881970-62881970 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.792C>T; p.Y264Y; 20:62910821-62910821 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.664G>A; p.D222N; 20:62910949-62910949 |
thyroid | carcinoma | Substitution - Missense |
c.5359G>A; p.A1787T; 20:62880597-62880597 |
skin | malignant_melanoma | Substitution - Missense |
c.210C>T; p.R70R; 20:62911403-62911403 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1412C>A; p.A471D; 20:62906063-62906063 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.418G>C; p.E140Q; 20:62911195-62911195 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6296C>A; p.P2099Q; 20:62879660-62879660 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3791C>T; p.P1264L; 20:62882165-62882165 |
skin | malignant_melanoma | Substitution - Missense |
c.453C>T; p.T151T; 20:62911160-62911160 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3218C>T; p.A1073V; 20:62892846-62892846 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3218C>T; p.A1073V; 20:62892846-62892846 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2496C>T; p.V832V; 20:62894489-62894489 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.3541+6C>T; p.?; 20:62890954-62890954 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.3541+6C>T; p.?; 20:62890954-62890954 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.3776G>T; p.G1259V; 20:62882180-62882180 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3218C>T; p.A1073V; 20:62892846-62892846 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6619C>T; p.R2207W; 20:62879337-62879337 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5649C>T; p.G1883G; 20:62880307-62880307 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.6184G>A; p.D2062N; 20:62879772-62879772 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4220G>A; p.R1407H; 20:62881736-62881736 |
skin | malignant_melanoma | Substitution - Missense |
c.6358G>A; p.G2120S; 20:62879598-62879598 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3102-1G>T; p.?; 20:62892963-62892963 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.1979G>A; p.S660N; 20:62896606-62896606 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.4516G>A; p.A1506T; 20:62881440-62881440 |
breast | carcinoma | Substitution - Missense |
c.5058G>A; p.P1686P; 20:62880898-62880898 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4862C>T; p.S1621L; 20:62881094-62881094 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.6349C>T; p.R2117C; 20:62879607-62879607 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1148A>C; p.K383T; 20:62909712-62909712 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6161C>T; p.A2054V; 20:62879795-62879795 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6161C>T; p.A2054V; 20:62879795-62879795 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.908G>A; p.R303Q; 20:62909952-62909952 |
NS | NS | Substitution - Missense |
c.1631T>C; p.M544T; 20:62896954-62896954 |
breast | carcinoma | Substitution - Missense |
c.5388G>C; p.P1796P; 20:62880568-62880568 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1008G>T; p.Q336H; 20:62909852-62909852 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4061T>G; p.V1354G; 20:62881895-62881895 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3496G>A; p.A1166T; 20:62891005-62891005 |
pancreas | carcinoma | Substitution - Missense |
c.1389C>A; p.I463I; 20:62906086-62906086 |
breast | carcinoma | Substitution - coding silent |
c.697G>A; p.D233N; 20:62910916-62910916 |
breast | carcinoma | Substitution - Missense |
c.4057G>A; p.G1353R; 20:62881899-62881899 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3595delA; p.I1199fs*10; 20:62882361-62882361 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3595delA; p.I1199fs*10; 20:62882361-62882361 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4008C>T; p.P1336P; 20:62881948-62881948 |
skin; neck | malignant_melanoma | Substitution - coding silent |
c.5426C>A; p.S1809Y; 20:62880530-62880530 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1804G>A; p.A602T; 20:62896781-62896781 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4275C>A; p.A1425A; 20:62881681-62881681 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4932C>T; p.P1644P; 20:62881024-62881024 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4618C>T; p.Q1540*; 20:62881338-62881338 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.638T>C; p.L213P; 20:62910975-62910975 |
skin | malignant_melanoma | Substitution - Missense |
c.4407G>A; p.T1469T; 20:62881549-62881549 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.77C>T; p.T26I; 20:62911536-62911536 |
breast | carcinoma | Substitution - Missense |
c.1568C>T; p.S523L; 20:62905907-62905907 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2535C>T; p.R845R; 20:62894450-62894450 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4430A>C; p.K1477T; 20:62881526-62881526 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4065G>T; p.P1355P; 20:62881891-62881891 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2319G>C; p.R773S; 20:62895061-62895061 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3082C>T; p.P1028S; 20:62893685-62893685 |
skin | malignant_melanoma | Substitution - Missense |
c.6228C>T; p.H2076H; 20:62879728-62879728 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.483G>C; p.L161F; 20:62911130-62911130 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4548G>T; p.V1516V; 20:62881408-62881408 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4983C>T; p.P1661P; 20:62880973-62880973 |
skin | malignant_melanoma | Substitution - coding silent |
c.326C>T; p.T109I; 20:62911287-62911287 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.901G>A; p.E301K; 20:62909959-62909959 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.374C>A; p.P125H; 20:62911239-62911239 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1770C>T; p.F590F; 20:62896815-62896815 |
skin | malignant_melanoma | Substitution - coding silent |
c.4372G>T; p.E1458*; 20:62881584-62881584 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.5054G>T; p.C1685F; 20:62880902-62880902 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.175C>T; p.L59L; 20:62911438-62911438 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.175C>T; p.L59L; 20:62911438-62911438 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.175C>T; p.L59L; 20:62911438-62911438 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6248_6249insT; p.E2084fs*9; 20:62879707-62879708 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.3394G>A; p.A1132T; 20:62891107-62891107 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4897G>A; p.G1633S; 20:62881059-62881059 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6175C>G; p.P2059A; 20:62879781-62879781 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3660G>T; p.P1220P; 20:62882296-62882296 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5901C>T; p.F1967F; 20:62880055-62880055 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3733C>T; p.P1245S; 20:62882223-62882223 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5549G>C; p.G1850A; 20:62880407-62880407 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5901C>T; p.F1967F; 20:62880055-62880055 |
skin | malignant_melanoma | Substitution - coding silent |
c.1545G>T; p.K515N; 20:62905930-62905930 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6066C>T; p.G2022G; 20:62879890-62879890 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4097A>T; p.Q1366L; 20:62881859-62881859 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.5769C>T; p.F1923F; 20:62880187-62880187 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4406C>T; p.T1469M; 20:62881550-62881550 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.4952C>T; p.S1651L; 20:62881004-62881004 |
skin | malignant_melanoma | Substitution - Missense |
c.2176C>T; p.R726C; 20:62896271-62896271 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5139C>T; p.S1713S; 20:62880817-62880817 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2176C>T; p.R726C; 20:62896271-62896271 |
skin | malignant_melanoma | Substitution - Missense |
c.1425_1426insA; p.E476fs*15; 20:62906049-62906050 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.473G>T; p.G158V; 20:62911140-62911140 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5200G>T; p.A1734S; 20:62880756-62880756 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.3957G>A; p.Q1319Q; 20:62881999-62881999 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1658C>T; p.P553L; 20:62896927-62896927 |
NS | malignant_melanoma | Substitution - Missense |
c.1978A>G; p.S660G; 20:62896607-62896607 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.219C>T; p.R73R; 20:62911394-62911394 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6326C>T; p.A2109V; 20:62879630-62879630 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3373G>A; p.A1125T; 20:62891128-62891128 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5247G>A; p.P1749P; 20:62880709-62880709 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3505C>A; p.P1169T; 20:62890996-62890996 |
ovary | carcinoma | Substitution - Missense |
c.5161G>C; p.G1721R; 20:62880795-62880795 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.6357C>T; p.R2119R; 20:62879599-62879599 |
large_intestine; rectum | adenoma | Substitution - coding silent |
c.4521C>T; p.V1507V; 20:62881435-62881435 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4225G>A; p.E1409K; 20:62881731-62881731 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4225G>A; p.E1409K; 20:62881731-62881731 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.878A>G; p.H293R; 20:62909982-62909982 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2553C>T; p.L851L; 20:62894432-62894432 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1525C>T; p.H509Y; 20:62905950-62905950 |
skin | malignant_melanoma | Substitution - Missense |
c.1940C>T; p.P647L; 20:62896645-62896645 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2984G>C; p.R995T; 20:62893783-62893783 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2011C>T; p.R671W; 20:62896574-62896574 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5400C>T; p.F1800F; 20:62880556-62880556 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2011C>T; p.R671W; 20:62896574-62896574 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2327G>A; p.R776K; 20:62895053-62895053 |
NS | NS | Substitution - Missense |
c.1992G>A; p.S664S; 20:62896593-62896593 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.5998G>A; p.E2000K; 20:62879958-62879958 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5996C>T; p.S1999F; 20:62879960-62879960 |
skin | malignant_melanoma | Substitution - Missense |
c.5435C>T; p.S1812L; 20:62880521-62880521 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.5338C>T; p.P1780S; 20:62880618-62880618 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.663C>T; p.N221N; 20:62910950-62910950 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.275_276CC>TT; p.S92F; 20:62911337-62911338 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3119C>T; p.S1040F; 20:62892945-62892945 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.5056C>T; p.P1686S; 20:62880900-62880900 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4524G>A; p.G1508G; 20:62881432-62881432 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3914C>T; p.S1305L; 20:62882042-62882042 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6579G>A; p.R2193R; 20:62879377-62879377 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3914C>T; p.S1305L; 20:62882042-62882042 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2534G>A; p.R845H; 20:62894451-62894451 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3914C>T; p.S1305L; 20:62882042-62882042 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3914C>T; p.S1305L; 20:62882042-62882042 |
skin | malignant_melanoma | Substitution - Missense |
c.2236C>T; p.R746C; 20:62895144-62895144 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6512G>A; p.R2171H; 20:62879444-62879444 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3165C>T; p.T1055T; 20:62892899-62892899 |
skin | malignant_melanoma | Substitution - coding silent |
c.4325A>T; p.D1442V; 20:62881631-62881631 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5308A>G; p.N1770D; 20:62880648-62880648 |
skin | malignant_melanoma | Substitution - Missense |
c.4509G>A; p.Q1503Q; 20:62881447-62881447 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.172G>T; p.G58C; 20:62911441-62911441 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6451C>T; p.R2151W; 20:62879505-62879505 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4024C>T; p.L1342F; 20:62881932-62881932 |
skin | malignant_melanoma | Substitution - Missense |
c.943A>G; p.I315V; 20:62909917-62909917 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5812C>T; p.R1938W; 20:62880144-62880144 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4172A>G; p.Y1391C; 20:62881784-62881784 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3797delC; p.P1266fs*8; 20:62882159-62882159 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5824C>T; p.P1942S; 20:62880132-62880132 |
skin | malignant_melanoma | Substitution - Missense |
c.4990C>T; p.P1664S; 20:62880966-62880966 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5893C>G; p.Q1965E; 20:62880063-62880063 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4699G>C; p.A1567P; 20:62881257-62881257 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2407G>T; p.E803*; 20:62894839-62894839 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2614_2615insA; p.L874fs*6; 20:62894152-62894153 |
stomach | carcinoma; diffuse_adenocarcinoma | Insertion - Frameshift |
c.436G>T; p.D146Y; 20:62911177-62911177 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.5544C>T; p.P1848P; 20:62880412-62880412 |
skin | malignant_melanoma | Substitution - coding silent |
c.2969A>G; p.H990R; 20:62893798-62893798 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2689G>C; p.D897H; 20:62894078-62894078 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1666G>A; p.A556T; 20:62896919-62896919 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1666G>A; p.A556T; 20:62896919-62896919 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1105A>G; p.R369G; 20:62909755-62909755 |
prostate | carcinoma | Substitution - Missense |
c.732G>A; p.Q244Q; 20:62910881-62910881 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2823C>T; p.S941S; 20:62893944-62893944 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3131delG; p.G1044fs*76; 20:62892933-62892933 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.110G>A; p.R37Q; 20:62911503-62911503 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2104A>G; p.I702V; 20:62896343-62896343 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2841C>T; p.S947S; 20:62893926-62893926 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4927_4928insC; p.R1643fs*37; 20:62881028-62881029 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.4927_4928insC; p.R1643fs*37; 20:62881028-62881029 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.4927_4928insC; p.R1643fs*37; 20:62881028-62881029 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.4927_4928insC; p.R1643fs*37; 20:62881028-62881029 |
NS | malignant_melanoma | Insertion - Frameshift |
c.4927_4928insC; p.R1643fs*37; 20:62881028-62881029 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.3707A>G; p.Q1236R; 20:62882249-62882249 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1136A>T; p.K379M; 20:62909724-62909724 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4854C>T; p.P1618P; 20:62881102-62881102 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2163C>T; p.Y721Y; 20:62896284-62896284 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.4542C>T; p.F1514F; 20:62881414-62881414 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1502G>C; p.S501T; 20:62905973-62905973 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3534G>T; p.E1178D; 20:62890967-62890967 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6627C>T; p.R2209R; 20:62879329-62879329 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1698C>T; p.L566L; 20:62896887-62896887 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4101C>T; p.F1367F; 20:62881855-62881855 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1660G>T; p.G554C; 20:62896925-62896925 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1738A>T; p.T580S; 20:62896847-62896847 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4258G>A; p.E1420K; 20:62881698-62881698 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.543G>A; p.L181L; 20:62911070-62911070 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4351G>C; p.D1451H; 20:62881605-62881605 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4258G>A; p.E1420K; 20:62881698-62881698 |
NS | NS | Substitution - Missense |
c.1839G>T; p.Q613H; 20:62896746-62896746 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5213C>T; p.P1738L; 20:62880743-62880743 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3999A>G; p.R1333R; 20:62881957-62881957 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3482T>G; p.L1161R; 20:62891019-62891019 |
breast | carcinoma | Substitution - Missense |
c.1802C>T; p.S601F; 20:62896783-62896783 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2723C>T; p.P908L; 20:62894044-62894044 |
skin | malignant_melanoma | Substitution - Missense |
c.6665G>A; p.R2222Q; 20:62879291-62879291 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.5768T>G; p.F1923C; 20:62880188-62880188 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4544C>T; p.S1515L; 20:62881412-62881412 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6490G>A; p.D2164N; 20:62879466-62879466 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3718A>C; p.K1240Q; 20:62882238-62882238 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.3270A>C; p.T1090T; 20:62892062-62892062 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6547C>T; p.R2183*; 20:62879409-62879409 |
pancreas | carcinoma | Substitution - Nonsense |
c.2842C>T; p.P948S; 20:62893925-62893925 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2893G>T; p.G965C; 20:62893874-62893874 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3488C>T; p.P1163L; 20:62891013-62891013 |
skin | malignant_melanoma | Substitution - Missense |
c.4711G>A; p.G1571S; 20:62881245-62881245 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2761C>T; p.H921Y; 20:62894006-62894006 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4330C>T; p.L1444L; 20:62881626-62881626 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1145T>G; p.L382R; 20:62909715-62909715 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1358C>T; p.P453L; 20:62907163-62907163 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1358C>T; p.P453L; 20:62907163-62907163 |
skin | malignant_melanoma | Substitution - Missense |
c.1980T>C; p.S660S; 20:62896605-62896605 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4702A>G; p.T1568A; 20:62881254-62881254 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4702A>G; p.T1568A; 20:62881254-62881254 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4702A>G; p.T1568A; 20:62881254-62881254 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4702A>G; p.T1568A; 20:62881254-62881254 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5313C>T; p.F1771F; 20:62880643-62880643 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4702A>G; p.T1568A; 20:62881254-62881254 |
thyroid | other; neoplasm | Substitution - Missense |
c.3192G>C; p.Q1064H; 20:62892872-62892872 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.5548G>T; p.G1850W; 20:62880408-62880408 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5019G>C; p.P1673P; 20:62880937-62880937 |
thyroid | carcinoma | Substitution - coding silent |
c.5870C>T; p.P1957L; 20:62880086-62880086 |
skin | malignant_melanoma | Substitution - Missense |
c.4126C>G; p.L1376V; 20:62881830-62881830 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6118C>T; p.R2040C; 20:62879838-62879838 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1271C>T; p.A424V; 20:62907250-62907250 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1860G>T; p.A620A; 20:62896725-62896725 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4847C>T; p.S1616F; 20:62881109-62881109 |
skin | malignant_melanoma | Substitution - Missense |
c.4056C>T; p.D1352D; 20:62881900-62881900 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.3751G>A; p.A1251T; 20:62882205-62882205 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3751G>A; p.A1251T; 20:62882205-62882205 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4493A>G; p.E1498G; 20:62881463-62881463 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1715_1717delCTT; p.S572delS; 20:62896868-62896870 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.3751G>A; p.A1251T; 20:62882205-62882205 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3751G>A; p.A1251T; 20:62882205-62882205 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4368C>T; p.S1456S; 20:62881588-62881588 |
skin | malignant_melanoma | Substitution - coding silent |
c.5597C>T; p.A1866V; 20:62880359-62880359 |
pancreas | carcinoma | Substitution - Missense |
c.6249C>T; p.F2083F; 20:62879707-62879707 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2157T>G; p.N719K; 20:62896290-62896290 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3204A>G; p.K1068K; 20:62892860-62892860 |
liver | carcinoma | Substitution - coding silent |
c.3204A>G; p.K1068K; 20:62892860-62892860 |
liver | carcinoma | Substitution - coding silent |
c.128C>T; p.A43V; 20:62911485-62911485 |
liver | carcinoma | Substitution - Missense |
c.6249C>T; p.F2083F; 20:62879707-62879707 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.128C>T; p.A43V; 20:62911485-62911485 |
liver | carcinoma | Substitution - Missense |
c.3813_3814GG>AA; p.V1272M; 20:62882142-62882143 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1140G>A; p.K380K; 20:62909720-62909720 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1712_1713delCT; p.S571fs*4; 20:62896872-62896873 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6165C>T; p.P2055P; 20:62879791-62879791 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - coding silent |
c.188G>A; p.R63H; 20:62911425-62911425 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.184C>T; p.R62W; 20:62911429-62911429 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1912G>A; p.V638I; 20:62896673-62896673 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5158G>A; p.E1720K; 20:62880798-62880798 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4866C>T; p.G1622G; 20:62881090-62881090 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.184C>T; p.R62W; 20:62911429-62911429 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5347G>A; p.E1783K; 20:62880609-62880609 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.5158G>A; p.E1720K; 20:62880798-62880798 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2540A>G; p.H847R; 20:62894445-62894445 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2713G>A; p.E905K; 20:62894054-62894054 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5990C>A; p.P1997H; 20:62879966-62879966 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5379A>G; p.R1793R; 20:62880577-62880577 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6666G>T; p.R2222R; 20:62879290-62879290 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5379A>G; p.R1793R; 20:62880577-62880577 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.502C>T; p.L168F; 20:62911111-62911111 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1094G>T; p.G365V; 20:62909766-62909766 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2865C>T; p.S955S; 20:62893902-62893902 |
liver | carcinoma | Substitution - coding silent |
c.1910C>T; p.A637V; 20:62896675-62896675 |
skin | malignant_melanoma | Substitution - Missense |
c.784G>A; p.E262K; 20:62910829-62910829 |
breast | carcinoma | Substitution - Missense |
c.6258G>T; p.R2086S; 20:62879698-62879698 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2301T>C; p.L767L; 20:62895079-62895079 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2133T>A; p.F711L; 20:62896314-62896314 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1046A>T; p.D349V; 20:62909814-62909814 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.2301T>C; p.L767L; 20:62895079-62895079 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2306C>T; p.T769M; 20:62895074-62895074 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2227C>T; p.R743C; 20:62895153-62895153 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.220G>T; p.V74L; 20:62911393-62911393 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2650A>T; p.K884*; 20:62894117-62894117 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5893C>T; p.Q1965*; 20:62880063-62880063 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.4572A>C; p.P1524P; 20:62881384-62881384 |
breast | carcinoma | Substitution - coding silent |
c.1169A>C; p.E390A; 20:62907352-62907352 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1247A>G; p.D416G; 20:62907274-62907274 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.332C>T; p.S111F; 20:62911281-62911281 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6101C>T; p.P2034L; 20:62879855-62879855 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2688G>A; p.P896P; 20:62894079-62894079 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4449C>T; p.N1483N; 20:62881507-62881507 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5206C>T; p.L1736F; 20:62880750-62880750 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2239G>C; p.E747Q; 20:62895141-62895141 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4324G>C; p.D1442H; 20:62881632-62881632 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3561G>A; p.P1187P; 20:62882395-62882395 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5872G>T; p.G1958C; 20:62880084-62880084 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4148G>A; p.R1383K; 20:62881808-62881808 |
skin | malignant_melanoma | Substitution - Missense |
c.3857C>T; p.P1286L; 20:62882099-62882099 |
skin | malignant_melanoma | Substitution - Missense |
c.5574C>T; p.A1858A; 20:62880382-62880382 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5032G>A; p.G1678S; 20:62880924-62880924 |
skin | malignant_melanoma | Substitution - Missense |
c.6088C>T; p.P2030S; 20:62879868-62879868 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3116G>T; p.R1039L; 20:62892948-62892948 |
liver | carcinoma | Substitution - Missense |
c.1815G>A; p.S605S; 20:62896770-62896770 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.523G>A; p.E175K; 20:62911090-62911090 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3530T>G; p.F1177C; 20:62890971-62890971 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4771C>T; p.P1591S; 20:62881185-62881185 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.893G>A; p.G298D; 20:62909967-62909967 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1290C>T; p.S430S; 20:62907231-62907231 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.3862_3873del12; p.T1291_A1294delTTAA; 20:62882083-62882094 |
kidney | carcinoma; renal_cell_carcinoma | Deletion - In frame |
c.3116G>T; p.R1039L; 20:62892948-62892948 |
liver | carcinoma | Substitution - Missense |
c.5587G>T; p.V1863L; 20:62880369-62880369 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4485G>T; p.E1495D; 20:62881471-62881471 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6376G>A; p.E2126K; 20:62879580-62879580 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2481G>A; p.A827A; 20:62894504-62894504 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1889G>A; p.G630D; 20:62896696-62896696 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3689A>C; p.K1230T; 20:62882267-62882267 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.403C>T; p.R135*; 20:62911210-62911210 |
breast | carcinoma | Substitution - Nonsense |
c.5339C>G; p.P1780R; 20:62880617-62880617 |
skin | malignant_melanoma | Substitution - Missense |
c.1570C>T; p.P524S; 20:62905905-62905905 |
skin | malignant_melanoma | Substitution - Missense |
c.5414G>A; p.G1805E; 20:62880542-62880542 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2607G>A; p.P869P; 20:62894160-62894160 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.575G>A; p.R192H; 20:62911038-62911038 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5700G>C; p.L1900L; 20:62880256-62880256 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3738C>T; p.L1246L; 20:62882218-62882218 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.686C>T; p.A229V; 20:62910927-62910927 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.622A>G; p.T208A; 20:62910991-62910991 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4787C>T; p.S1596F; 20:62881169-62881169 |
skin | malignant_melanoma | Substitution - Missense |
c.2417C>T; p.P806L; 20:62894829-62894829 |
prostate | carcinoma | Substitution - Missense |
c.4850C>T; p.S1617F; 20:62881106-62881106 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4236G>C; p.R1412S; 20:62881720-62881720 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4968G>A; p.R1656R; 20:62880988-62880988 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4492G>C; p.E1498Q; 20:62881464-62881464 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3781C>T; p.P1261S; 20:62882175-62882175 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1172C>T; p.A391V; 20:62907349-62907349 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.322G>T; p.E108*; 20:62911291-62911291 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2536G>T; p.A846S; 20:62894449-62894449 |
liver | carcinoma | Substitution - Missense |
c.2536G>T; p.A846S; 20:62894449-62894449 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.129G>A; p.A43A; 20:62911484-62911484 |
breast | carcinoma | Substitution - coding silent |
c.2536G>T; p.A846S; 20:62894449-62894449 |
liver | carcinoma | Substitution - Missense |
c.4153T>C; p.Y1385H; 20:62881803-62881803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.338_339insG; p.S114fs*7; 20:62911274-62911275 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1600G>A; p.D534N; 20:62896985-62896985 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5500C>T; p.P1834S; 20:62880456-62880456 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.2427G>T; p.S809S; 20:62894819-62894819 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6152C>T; p.S2051F; 20:62879804-62879804 |
skin | malignant_melanoma | Substitution - Missense |
c.1991C>T; p.S664L; 20:62896594-62896594 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1738A>C; p.T580P; 20:62896847-62896847 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.5339C>T; p.P1780L; 20:62880617-62880617 |
skin | malignant_melanoma | Substitution - Missense |
c.457G>A; p.D153N; 20:62911156-62911156 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1592C>T; p.T531M; 20:62896993-62896993 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2380C>T; p.P794S; 20:62894866-62894866 |
skin | malignant_melanoma | Substitution - Missense |
c.3154C>T; p.R1052*; 20:62892910-62892910 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5869C>T; p.P1957S; 20:62880087-62880087 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5611G>A; p.E1871K; 20:62880345-62880345 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3154C>T; p.R1052*; 20:62892910-62892910 |
thyroid | carcinoma | Substitution - Nonsense |
c.1691G>C; p.R564T; 20:62896894-62896894 |
breast | carcinoma | Substitution - Missense |
c.5010C>T; p.P1670P; 20:62880946-62880946 |
liver | carcinoma | Substitution - coding silent |
c.6291G>A; p.E2097E; 20:62879665-62879665 |
skin | malignant_melanoma | Substitution - coding silent |
c.5010C>T; p.P1670P; 20:62880946-62880946 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.2797C>T; p.P933S; 20:62893970-62893970 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6637G>A; p.D2213N; 20:62879319-62879319 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.6176C>T; p.P2059L; 20:62879780-62879780 |
skin | malignant_melanoma | Substitution - Missense |
c.4333C>T; p.P1445S; 20:62881623-62881623 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.88C>T; p.R30*; 20:62911525-62911525 |
skin | malignant_melanoma | Substitution - Nonsense |
c.3900T>C; p.A1300A; 20:62882056-62882056 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.88C>T; p.R30*; 20:62911525-62911525 |
skin | malignant_melanoma | Substitution - Nonsense |
c.4351G>T; p.D1451Y; 20:62881605-62881605 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1791G>A; p.R597R; 20:62896794-62896794 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3192G>A; p.Q1064Q; 20:62892872-62892872 |
breast | carcinoma | Substitution - coding silent |
c.4117G>T; p.D1373Y; 20:62881839-62881839 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6486G>A; p.E2162E; 20:62879470-62879470 |
pancreas | carcinoma | Substitution - coding silent |
c.3938C>T; p.P1313L; 20:62882018-62882018 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.5023C>T; p.Q1675*; 20:62880933-62880933 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5533C>T; p.R1845C; 20:62880423-62880423 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.6119G>A; p.R2040H; 20:62879837-62879837 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.6380G>A; p.R2127Q; 20:62879576-62879576 |
skin | malignant_melanoma | Substitution - Missense |
c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.4872G>C; p.K1624N; 20:62881084-62881084 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3610_3611AA>GC; p.N1204A; 20:62882345-62882346 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3286A>T; p.R1096W; 20:62892046-62892046 |
pancreas | carcinoma | Substitution - Missense |
c.4872G>C; p.K1624N; 20:62881084-62881084 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1487C>T; p.A496V; 20:62905988-62905988 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4872G>C; p.K1624N; 20:62881084-62881084 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4872G>C; p.K1624N; 20:62881084-62881084 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4872G>C; p.K1624N; 20:62881084-62881084 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4872G>C; p.K1624N; 20:62881084-62881084 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4872G>C; p.K1624N; 20:62881084-62881084 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4412C>T; p.S1471F; 20:62881544-62881544 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2669C>G; p.S890C; 20:62894098-62894098 |
thyroid | other; neoplasm | Substitution - Missense |
c.3809C>T; p.P1270L; 20:62882147-62882147 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2938G>A; p.A980T; 20:62893829-62893829 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3809C>T; p.P1270L; 20:62882147-62882147 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2755_2756GC>AT; p.A919>?; 20:62894011-62894012 |
large_intestine; colon | carcinoma; adenocarcinoma | Complex |
c.3856C>T; p.P1286S; 20:62882100-62882100 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1083C>T; p.S361S; 20:62909777-62909777 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.5546A>T; p.H1849L; 20:62880410-62880410 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1217C>T; p.A406V; 20:62907304-62907304 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6121T>C; p.W2041R; 20:62879835-62879835 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.4310C>T; p.A1437V; 20:62881646-62881646 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2307G>A; p.T769T; 20:62895073-62895073 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5891C>T; p.P1964L; 20:62880065-62880065 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6428C>T; p.S2143F; 20:62879528-62879528 |
skin | malignant_melanoma | Substitution - Missense |
c.25A>G; p.N9D; 20:62911588-62911588 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4180G>A; p.E1394K; 20:62881776-62881776 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1399C>A; p.H467N; 20:62906076-62906076 |
liver | carcinoma | Substitution - Missense |
c.1399C>A; p.H467N; 20:62906076-62906076 |
liver | carcinoma | Substitution - Missense |
c.5667C>T; p.F1889F; 20:62880289-62880289 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3881C>A; p.A1294E; 20:62882075-62882075 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6101delC; p.P2034fs*>207; 20:62879855-62879855 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5402G>A; p.G1801E; 20:62880554-62880554 |
skin | malignant_melanoma | Substitution - Missense |
c.6101delC; p.P2034fs*>207; 20:62879855-62879855 |
thyroid | carcinoma; anaplastic_carcinoma | Deletion - Frameshift |
c.6101delC; p.P2034fs*>207; 20:62879855-62879855 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3785C>T; p.P1262L; 20:62882171-62882171 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1863A>G; p.A621A; 20:62896722-62896722 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.4037C>T; p.P1346L; 20:62881919-62881919 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.117C>T; p.G39G; 20:62911496-62911496 |
ovary | other; neoplasm | Substitution - coding silent |
c.4924A>C; p.T1642P; 20:62881032-62881032 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4924A>C; p.T1642P; 20:62881032-62881032 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4924A>C; p.T1642P; 20:62881032-62881032 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4924A>C; p.T1642P; 20:62881032-62881032 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3627C>T; p.D1209D; 20:62882329-62882329 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4924A>C; p.T1642P; 20:62881032-62881032 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5727C>T; p.P1909P; 20:62880229-62880229 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4924A>C; p.T1642P; 20:62881032-62881032 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4924A>C; p.T1642P; 20:62881032-62881032 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1610C>T; p.S537F; 20:62896975-62896975 |
skin | malignant_melanoma | Substitution - Missense |
c.3330G>C; p.K1110N; 20:62892002-62892002 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.4066G>T; p.A1356S; 20:62881890-62881890 |
meninges | meningioma | Substitution - Missense |
c.2511G>C; p.L837F; 20:62894474-62894474 |
breast | carcinoma | Substitution - Missense |
c.3750C>G; p.D1250E; 20:62882206-62882206 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2511G>C; p.L837F; 20:62894474-62894474 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4707G>A; p.E1569E; 20:62881249-62881249 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2630C>T; p.S877F; 20:62894137-62894137 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5471G>C; p.R1824T; 20:62880485-62880485 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4231G>C; p.E1411Q; 20:62881725-62881725 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2630C>T; p.S877F; 20:62894137-62894137 |
skin | malignant_melanoma | Substitution - Missense |
c.3802C>T; p.P1268S; 20:62882154-62882154 |
skin | malignant_melanoma | Substitution - Missense |
c.365G>C; p.R122T; 20:62911248-62911248 |
breast | carcinoma | Substitution - Missense |
c.1740A>C; p.T580T; 20:62896845-62896845 |
thyroid | other; neoplasm | Substitution - coding silent |
c.6686C>T; p.S2229L; 20:62879270-62879270 |
skin | malignant_melanoma | Substitution - Missense |
c.4552G>A; p.D1518N; 20:62881404-62881404 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1740A>C; p.T580T; 20:62896845-62896845 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1740A>C; p.T580T; 20:62896845-62896845 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1740A>C; p.T580T; 20:62896845-62896845 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1740A>C; p.T580T; 20:62896845-62896845 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1740A>C; p.T580T; 20:62896845-62896845 |
thyroid | other; neoplasm | Substitution - coding silent |
c.4110C>A; p.F1370L; 20:62881846-62881846 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2133delT; p.F711fs*22; 20:62896314-62896314 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5372G>C; p.G1791A; 20:62880584-62880584 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.5423C>T; p.P1808L; 20:62880533-62880533 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4691G>T; p.R1564M; 20:62881265-62881265 |
thyroid | other; neoplasm | Substitution - Missense |
c.444C>T; p.H148H; 20:62911169-62911169 |
pancreas | carcinoma | Substitution - coding silent |
c.657C>T; p.P219P; 20:62910956-62910956 |
skin | malignant_melanoma | Substitution - coding silent |
c.253G>A; p.G85S; 20:62911360-62911360 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.4751G>A; p.R1584H; 20:62881205-62881205 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.253G>A; p.G85S; 20:62911360-62911360 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2917A>G; p.S973G; 20:62893850-62893850 |
liver | carcinoma | Substitution - Missense |
c.309_310CG>TT; p.A104S; 20:62911303-62911304 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5239C>G; p.Q1747E; 20:62880717-62880717 |
breast | carcinoma | Substitution - Missense |
c.6489C>T; p.A2163A; 20:62879467-62879467 |
pancreas | carcinoma | Substitution - coding silent |
c.5239C>G; p.Q1747E; 20:62880717-62880717 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6046C>T; p.P2016S; 20:62879910-62879910 |
skin | malignant_melanoma | Substitution - Missense |
c.5648G>T; p.G1883V; 20:62880308-62880308 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4693C>T; p.R1565C; 20:62881263-62881263 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6046C>T; p.P2016S; 20:62879910-62879910 |
skin | malignant_melanoma | Substitution - Missense |
c.5440C>T; p.Q1814*; 20:62880516-62880516 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3911C>T; p.A1304V; 20:62882045-62882045 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6317A>G; p.Q2106R; 20:62879639-62879639 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3988C>T; p.P1330S; 20:62881968-62881968 |
skin; abdomen | malignant_melanoma | Substitution - Missense |
c.5242C>A; p.P1748T; 20:62880714-62880714 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5291C>A; p.S1764*; 20:62880665-62880665 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.3989C>T; p.P1330L; 20:62881967-62881967 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3989C>T; p.P1330L; 20:62881967-62881967 |
skin; abdomen | malignant_melanoma | Substitution - Missense |
c.4413C>T; p.S1471S; 20:62881543-62881543 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.862T>C; p.C288R; 20:62909998-62909998 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1866G>T; p.T622T; 20:62896719-62896719 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3332C>T; p.S1111F; 20:62892000-62892000 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1834A>G; p.R612G; 20:62896751-62896751 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1834A>G; p.R612G; 20:62896751-62896751 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.4515C>T; p.A1505A; 20:62881441-62881441 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6352G>A; p.E2118K; 20:62879604-62879604 |
NS | NS | Substitution - Missense |
c.483G>A; p.L161L; 20:62911130-62911130 |
breast | carcinoma | Substitution - coding silent |
c.2067C>T; p.S689S; 20:62896380-62896380 |
pancreas | carcinoma | Substitution - coding silent |
c.2067C>T; p.S689S; 20:62896380-62896380 |
pancreas | carcinoma | Substitution - coding silent |
c.5710C>G; p.R1904G; 20:62880246-62880246 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2067C>T; p.S689S; 20:62896380-62896380 |
pancreas | carcinoma | Substitution - coding silent |
c.5591C>T; p.T1864M; 20:62880365-62880365 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.98C>T; p.T33I; 20:62911515-62911515 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1681C>T; p.P561S; 20:62896904-62896904 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.400G>C; p.E134Q; 20:62911213-62911213 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.11A>T; p.K4I; 20:62911602-62911602 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2436G>A; p.E812E; 20:62894810-62894810 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.133G>T; p.A45S; 20:62911480-62911480 |
bone; pelvis | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.5320C>T; p.P1774S; 20:62880636-62880636 |
skin | malignant_melanoma | Substitution - Missense |
c.4795G>T; p.G1599C; 20:62881161-62881161 |
large_intestine; colon | adenoma | Substitution - Missense |
c.3645G>A; p.R1215R; 20:62882311-62882311 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4044C>T; p.T1348T; 20:62881912-62881912 |
skin | malignant_melanoma | Substitution - coding silent |
c.6206A>C; p.D2069A; 20:62879750-62879750 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1267G>A; p.A423T; 20:62907254-62907254 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5757C>A; p.P1919P; 20:62880199-62880199 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.500G>A; p.R167H; 20:62911113-62911113 |
pancreas | carcinoma | Substitution - Missense |
c.2480C>T; p.A827V; 20:62894505-62894505 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.719G>A; p.G240E; 20:62910894-62910894 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4867G>A; p.E1623K; 20:62881089-62881089 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4867G>A; p.E1623K; 20:62881089-62881089 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4867G>A; p.E1623K; 20:62881089-62881089 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2507T>C; p.M836T; 20:62894478-62894478 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1246G>A; p.D416N; 20:62907275-62907275 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.4867G>A; p.E1623K; 20:62881089-62881089 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4867G>A; p.E1623K; 20:62881089-62881089 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1359G>A; p.P453P; 20:62907162-62907162 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4867G>A; p.E1623K; 20:62881089-62881089 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4867G>A; p.E1623K; 20:62881089-62881089 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6596G>A; p.R2199Q; 20:62879360-62879360 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.882C>T; p.G294G; 20:62909978-62909978 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6596G>A; p.R2199Q; 20:62879360-62879360 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4441G>T; p.E1481*; 20:62881515-62881515 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1807A>C; p.T603P; 20:62896778-62896778 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.5758C>T; p.P1920S; 20:62880198-62880198 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.590C>T; p.P197L; 20:62911023-62911023 |
skin | malignant_melanoma | Substitution - Missense |
c.3404C>T; p.S1135F; 20:62891097-62891097 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.440A>G; p.D147G; 20:62911173-62911173 |
skin | malignant_melanoma | Substitution - Missense |
c.6122G>T; p.W2041L; 20:62879834-62879834 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.4732C>T; p.L1578F; 20:62881224-62881224 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1087G>T; p.D363Y; 20:62909773-62909773 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1784C>G; p.P595R; 20:62896801-62896801 |
pancreas | carcinoma | Substitution - Missense |
c.3345+1G>C; p.?; 20:62891986-62891986 |
breast | carcinoma | Unknown |
c.2224C>T; p.H742Y; 20:62895156-62895156 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1665C>T; p.S555S; 20:62896920-62896920 |
skin | malignant_melanoma | Substitution - coding silent |
c.3559C>T; p.P1187S; 20:62882397-62882397 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.558T>C; p.S186S; 20:62911055-62911055 |
skin | malignant_melanoma | Substitution - coding silent |
c.3980C>A; p.S1327*; 20:62881976-62881976 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5409G>T; p.Q1803H; 20:62880547-62880547 |
breast | carcinoma | Substitution - Missense |
c.250C>T; p.R84C; 20:62911363-62911363 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5413_5414GG>AA; p.G1805K; 20:62880542-62880543 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.102C>T; p.I34I; 20:62911511-62911511 |
thyroid | other; neoplasm | Substitution - coding silent |
c.4217G>A; p.R1406Q; 20:62881739-62881739 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6006_6007insA; p.E2003fs*90; 20:62879949-62879950 |
stomach | adenocarcinoma | Insertion - Frameshift |
c.4896C>T; p.D1632D; 20:62881060-62881060 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6051G>T; p.Q2017H; 20:62879905-62879905 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5190C>T; p.G1730G; 20:62880766-62880766 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.5228delT; p.V1743fs*121; 20:62880728-62880728 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.907C>T; p.R303*; 20:62909953-62909953 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1052C>T; p.T351I; 20:62909808-62909808 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4739G>A; p.R1580K; 20:62881217-62881217 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5682G>A; p.R1894R; 20:62880274-62880274 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4089C>T; p.I1363I; 20:62881867-62881867 |
skin | malignant_melanoma | Substitution - coding silent |
c.6144C>T; p.S2048S; 20:62879812-62879812 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5301C>T; p.H1767H; 20:62880655-62880655 |
ovary | other; neoplasm | Substitution - coding silent |
c.2013G>A; p.R671R; 20:62896572-62896572 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.2043T>G; p.I681M; 20:62896542-62896542 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5301C>T; p.H1767H; 20:62880655-62880655 |
ovary | other; neoplasm | Substitution - coding silent |
c.4470G>C; p.K1490N; 20:62881486-62881486 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.3393C>T; p.V1131V; 20:62891108-62891108 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.859C>T; p.R287C; 20:62910001-62910001 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.542T>G; p.L181R; 20:62911071-62911071 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4746G>A; p.S1582S; 20:62881210-62881210 |
pancreas | carcinoma | Substitution - coding silent |
c.239T>G; p.I80S; 20:62911374-62911374 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4470G>C; p.K1490N; 20:62881486-62881486 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.246G>A; p.R82R; 20:62911367-62911367 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5523A>G; p.Q1841Q; 20:62880433-62880433 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4451A>C; p.K1484T; 20:62881505-62881505 |
skin | malignant_melanoma | Substitution - Missense |
c.4216C>T; p.R1406W; 20:62881740-62881740 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2877C>T; p.T959T; 20:62893890-62893890 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.469G>A; p.D157N; 20:62911144-62911144 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4216C>T; p.R1406W; 20:62881740-62881740 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1224C>T; p.P408P; 20:62907297-62907297 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5969G>A; p.G1990D; 20:62879987-62879987 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.998C>T; p.A333V; 20:62909862-62909862 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1272G>A; p.A424A; 20:62907249-62907249 |
thyroid | other; neoplasm | Substitution - coding silent |
c.5316G>A; p.P1772P; 20:62880640-62880640 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.4167G>T; p.E1389D; 20:62881789-62881789 |
breast | carcinoma | Substitution - Missense |
c.5969G>A; p.G1990D; 20:62879987-62879987 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1425delA; p.E476fs*4; 20:62906050-62906050 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1425delA; p.E476fs*4; 20:62906050-62906050 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4988C>T; p.P1663L; 20:62880968-62880968 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.5199C>T; p.T1733T; 20:62880757-62880757 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1511C>T; p.S504L; 20:62905964-62905964 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4749A>T; p.A1583A; 20:62881207-62881207 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |