General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 9667 |
Name | SAFB2 |
Synonymous | scaffold attachment factor B2;SAFB2;scaffold attachment factor B2 |
Definition | SAF-B2 |
Position | 19p13.3 |
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 0.20. |
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.2067C>T; p.R689R; 19:5594031-5594031 |
pancreas | carcinoma | Substitution - coding silent |
c.1731G>A; p.S577S; 19:5598844-5598844 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1731G>A; p.S577S; 19:5598844-5598844 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2824C>T; p.H942Y; 19:5587281-5587281 |
breast | carcinoma | Substitution - Missense |
c.1782+3G>A; p.?; 19:5598790-5598790 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.1552A>G; p.I518V; 19:5604590-5604590 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.254C>T; p.S85L; 19:5621329-5621329 |
breast | carcinoma | Substitution - Missense |
c.1607delA; p.K536fs*15; 19:5600213-5600213 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1607delA; p.K536fs*15; 19:5600213-5600213 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1607delA; p.K536fs*15; 19:5600213-5600213 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.634+2T>C; p.?; 19:5612538-5612538 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.2574G>A; p.Q858Q; 19:5587932-5587932 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.469G>A; p.D157N; 19:5616206-5616206 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2412C>T; p.R804R; 19:5590391-5590391 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1999C>T; p.R667C; 19:5594099-5594099 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1281C>T; p.F427F; 19:5610010-5610010 |
skin | malignant_melanoma | Substitution - coding silent |
c.2765T>C; p.L922P; 19:5587340-5587340 |
thyroid | other; neoplasm | Substitution - Missense |
c.2639-4C>T; p.?; 19:5587771-5587771 |
stomach | carcinoma; diffuse_adenocarcinoma | Unknown |
c.1426C>T; p.R476*; 19:5604807-5604807 |
large_intestine; colon | carcinoma | Substitution - Nonsense |
c.1426C>T; p.R476*; 19:5604807-5604807 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2834C>T; p.P945L; 19:5587271-5587271 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1756A>C; p.K586Q; 19:5598819-5598819 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1839G>A; p.S613S; 19:5595441-5595441 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1153A>C; p.K385Q; 19:5610681-5610681 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2628C>T; p.A876A; 19:5587878-5587878 |
skin | malignant_melanoma | Substitution - coding silent |
c.2509C>T; p.L837L; 19:5590294-5590294 |
skin | malignant_melanoma | Substitution - coding silent |
c.2263C>T; p.R755C; 19:5592832-5592832 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2358T>G; p.G786G; 19:5591784-5591784 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2044A>C; p.M682L; 19:5594054-5594054 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.165_166CC>TT; p.(=); 19:5622550-5622551 |
cervix | carcinoma; squamous_cell_carcinoma | Unknown |
c.381C>T; p.G127G; 19:5616294-5616294 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.417G>A; p.V139V; 19:5616258-5616258 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.2249T>C; p.M750T; 19:5592846-5592846 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2471delG; p.G824fs*8; 19:5590332-5590332 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.158A>T; p.K53M; 19:5622558-5622558 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2471delG; p.G824fs*8; 19:5590332-5590332 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.346A>G; p.M116V; 19:5616329-5616329 |
liver | carcinoma | Substitution - Missense |
c.2471delG; p.G824fs*8; 19:5590332-5590332 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.346A>G; p.M116V; 19:5616329-5616329 |
liver | carcinoma | Substitution - Missense |
c.2471delG; p.G824fs*8; 19:5590332-5590332 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2471_2472insG; p.Y825fs*9; 19:5590331-5590332 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Insertion - Frameshift |
c.189G>A; p.A63A; 19:5621394-5621394 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2743C>A; p.H915N; 19:5587362-5587362 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2785A>T; p.S929C; 19:5587320-5587320 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.2093G>A; p.R698H; 19:5594005-5594005 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2239C>T; p.R747C; 19:5592856-5592856 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2214T>G; p.D738E; 19:5592881-5592881 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1465G>T; p.G489W; 19:5604677-5604677 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.2663C>T; p.P888L; 19:5587743-5587743 |
skin | malignant_melanoma | Substitution - Missense |
c.2760C>G; p.G920G; 19:5587345-5587345 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1560-1G>C; p.?; 19:5600261-5600261 |
urinary_tract; bladder | carcinoma | Unknown |
c.1465G>T; p.G489W; 19:5604677-5604677 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2644G>A; p.E882K; 19:5587762-5587762 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2834delC; p.P945fs*>9; 19:5587271-5587271 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2834delC; p.P945fs*>9; 19:5587271-5587271 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2834delC; p.P945fs*>9; 19:5587271-5587271 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2834delC; p.P945fs*>9; 19:5587271-5587271 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2834delC; p.P945fs*>9; 19:5587271-5587271 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2834delC; p.P945fs*>9; 19:5587271-5587271 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2834delC; p.P945fs*>9; 19:5587271-5587271 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2834delC; p.P945fs*>9; 19:5587271-5587271 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1787C>T; p.S596F; 19:5595493-5595493 |
skin | malignant_melanoma | Substitution - Missense |
c.1375G>A; p.D459N; 19:5604858-5604858 |
breast | carcinoma | Substitution - Missense |
c.2626G>A; p.A876T; 19:5587880-5587880 |
pancreas | carcinoma | Substitution - Missense |
c.1297-2A>T; p.?; 19:5604938-5604938 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.2520C>T; p.P840P; 19:5590283-5590283 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.605C>T; p.P202L; 19:5613466-5613466 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.220A>G; p.I74V; 19:5621363-5621363 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2279G>A; p.R760Q; 19:5592816-5592816 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1276C>T; p.L426F; 19:5610015-5610015 |
skin | malignant_melanoma | Substitution - Missense |
c.405C>T; p.D135D; 19:5616270-5616270 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1495G>A; p.E499K; 19:5604647-5604647 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1495G>A; p.E499K; 19:5604647-5604647 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1495G>A; p.E499K; 19:5604647-5604647 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1617C>T; p.D539D; 19:5600203-5600203 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1279T>G; p.F427V; 19:5610012-5610012 |
skin | malignant_melanoma | Substitution - Missense |
c.1944G>A; p.E648E; 19:5594154-5594154 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1191A>C; p.E397D; 19:5610643-5610643 |
liver | carcinoma | Substitution - Missense |
c.1191A>C; p.E397D; 19:5610643-5610643 |
liver | carcinoma | Substitution - Missense |
c.1262C>T; p.T421M; 19:5610029-5610029 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2042G>A; p.R681H; 19:5594056-5594056 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2446C>T; p.R816W; 19:5590357-5590357 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
thyroid | other; neoplasm | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
liver | carcinoma | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
prostate | carcinoma | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2848A>C; p.T950P; 19:5587257-5587257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1681A>G; p.T561A; 19:5600139-5600139 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2119C>T; p.R707C; 19:5593979-5593979 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1682C>T; p.T561I; 19:5600138-5600138 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.406G>A; p.E136K; 19:5616269-5616269 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2360C>T; p.S787L; 19:5591782-5591782 |
skin | malignant_melanoma | Substitution - Missense |
c.2377G>C; p.D793H; 19:5591765-5591765 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2854C>T; p.R952C; 19:5587251-5587251 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2426G>A; p.G809E; 19:5590377-5590377 |
breast | carcinoma | Substitution - Missense |
c.1832T>G; p.I611S; 19:5595448-5595448 |
liver | carcinoma | Substitution - Missense |
c.1802G>T; p.R601L; 19:5595478-5595478 |
breast | carcinoma | Substitution - Missense |
c.1832T>G; p.I611S; 19:5595448-5595448 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2344G>A; p.D782N; 19:5592751-5592751 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2625C>T; p.H875H; 19:5587881-5587881 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1525G>A; p.D509N; 19:5604617-5604617 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2764C>T; p.L922L; 19:5587341-5587341 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2508delG; p.L837fs*18; 19:5590295-5590295 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2834_2835insC; p.Y946fs*>9; 19:5587270-5587271 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1240C>T; p.L414L; 19:5610051-5610051 |
skin | malignant_melanoma | Substitution - coding silent |
c.2343C>T; p.I781I; 19:5592752-5592752 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2834_2835insC; p.Y946fs*>9; 19:5587270-5587271 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.180C>G; p.L60L; 19:5622536-5622536 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2451C>T; p.D817D; 19:5590352-5590352 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2337C>T; p.H779H; 19:5592758-5592758 |
skin | malignant_melanoma | Substitution - coding silent |
c.1444A>T; p.K482*; 19:5604789-5604789 |
stomach | adenocarcinoma | Substitution - Nonsense |
c.2185C>T; p.R729W; 19:5593913-5593913 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2579G>T; p.R860L; 19:5587927-5587927 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.621C>T; p.S207S; 19:5612553-5612553 |
skin | malignant_melanoma | Substitution - coding silent |
c.419C>T; p.A140V; 19:5616256-5616256 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.189G>C; p.A63A; 19:5621394-5621394 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2001C>A; p.R667R; 19:5594097-5594097 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.214G>A; p.D72N; 19:5621369-5621369 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.370C>T; p.Q124*; 19:5616305-5616305 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1545G>T; p.E515D; 19:5604597-5604597 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.170T>G; p.M57R; 19:5622546-5622546 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1328G>A; p.R443H; 19:5604905-5604905 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1328G>A; p.R443H; 19:5604905-5604905 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2858A>T; p.Y953F; 19:5587247-5587247 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.588G>A; p.L196L; 19:5613483-5613483 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2580C>T; p.R860R; 19:5587926-5587926 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2580C>T; p.R860R; 19:5587926-5587926 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.439T>A; p.F147I; 19:5616236-5616236 |
skin | malignant_melanoma | Substitution - Missense |
c.1367C>T; p.S456L; 19:5604866-5604866 |
prostate | adenoma | Substitution - Missense |
c.395G>A; p.S132N; 19:5616280-5616280 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.5C>T; p.A2V; 19:5622711-5622711 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.607-7delT; p.?; 19:5612574-5612574 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.251A>T; p.K84M; 19:5621332-5621332 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.581C>A; p.S194*; 19:5613490-5613490 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1902C>T; p.R634R; 19:5595378-5595378 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2581G>A; p.A861T; 19:5587925-5587925 |
breast | carcinoma | Substitution - Missense |
c.2835_2837delGTA; p.Y946delY; 19:5587268-5587270 |
breast | carcinoma | Deletion - In frame |
c.2338G>A; p.A780T; 19:5592757-5592757 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2338G>A; p.A780T; 19:5592757-5592757 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.553G>T; p.E185*; 19:5613518-5613518 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2338G>A; p.A780T; 19:5592757-5592757 |
skin | malignant_melanoma | Substitution - Missense |
c.2641G>A; p.G881S; 19:5587765-5587765 |
soft_tissue; fibrous_tissue_and_uncertain_o | dermatofibrosarcoma_protuberans | Substitution - Missense |
c.1324G>A; p.A442T; 19:5604909-5604909 |
stomach | adenocarcinoma | Substitution - Missense |
c.553G>T; p.E185*; 19:5613518-5613518 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2819A>C; p.H940P; 19:5587286-5587286 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2819A>C; p.H940P; 19:5587286-5587286 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2819A>C; p.H940P; 19:5587286-5587286 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2819A>C; p.H940P; 19:5587286-5587286 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2684C>T; p.A895V; 19:5587722-5587722 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2819A>C; p.H940P; 19:5587286-5587286 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2819A>C; p.H940P; 19:5587286-5587286 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2103G>A; p.E701E; 19:5593995-5593995 |
skin | malignant_melanoma | Substitution - coding silent |
c.112C>G; p.L38V; 19:5622604-5622604 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1801C>T; p.R601C; 19:5595479-5595479 |
skin | malignant_melanoma | Substitution - Missense |
c.1502A>G; p.K501R; 19:5604640-5604640 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2601C>T; p.D867D; 19:5587905-5587905 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.2823T>C; p.P941P; 19:5587282-5587282 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1443G>T; p.E481D; 19:5604790-5604790 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.132G>A; p.K44K; 19:5622584-5622584 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.296G>A; p.G99D; 19:5616465-5616465 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2837A>C; p.Y946S; 19:5587268-5587268 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2837A>C; p.Y946S; 19:5587268-5587268 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2837A>C; p.Y946S; 19:5587268-5587268 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2837A>C; p.Y946S; 19:5587268-5587268 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2837A>C; p.Y946S; 19:5587268-5587268 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.606G>A; p.P202P; 19:5613465-5613465 |
liver | carcinoma | Substitution - coding silent |
c.2837A>C; p.Y946S; 19:5587268-5587268 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2837A>C; p.Y946S; 19:5587268-5587268 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2837A>C; p.Y946S; 19:5587268-5587268 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2837A>C; p.Y946S; 19:5587268-5587268 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2837A>C; p.Y946S; 19:5587268-5587268 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2837A>C; p.Y946S; 19:5587268-5587268 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2837A>C; p.Y946S; 19:5587268-5587268 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2837A>C; p.Y946S; 19:5587268-5587268 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2837A>C; p.Y946S; 19:5587268-5587268 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2837A>C; p.Y946S; 19:5587268-5587268 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.606G>A; p.P202P; 19:5613465-5613465 |
liver | carcinoma | Substitution - coding silent |
c.2837A>C; p.Y946S; 19:5587268-5587268 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2837A>C; p.Y946S; 19:5587268-5587268 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2837A>C; p.Y946S; 19:5587268-5587268 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2837A>C; p.Y946S; 19:5587268-5587268 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2837A>C; p.Y946S; 19:5587268-5587268 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2837A>C; p.Y946S; 19:5587268-5587268 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1709G>A; p.R570Q; 19:5598866-5598866 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2153A>G; p.Q718R; 19:5593945-5593945 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.1657G>A; p.G553R; 19:5600163-5600163 |
pancreas | carcinoma | Substitution - Missense |
c.2162A>G; p.Y721C; 19:5593936-5593936 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2833_2834delCC; p.P945fs*>9; 19:5587271-5587272 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.2503C>T; p.R835W; 19:5590300-5590300 |
pancreas | carcinoma | Substitution - Missense |
c.2209C>T; p.R737*; 19:5592886-5592886 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.2503C>T; p.R835W; 19:5590300-5590300 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1094C>G; p.P365R; 19:5611171-5611171 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.418G>A; p.A140T; 19:5616257-5616257 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1342C>T; p.R448*; 19:5604891-5604891 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2563G>A; p.E855K; 19:5587943-5587943 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2276C>T; p.P759L; 19:5592819-5592819 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1716C>T; p.V572V; 19:5598859-5598859 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1165G>T; p.D389Y; 19:5610669-5610669 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2349G>A; p.R783R; 19:5591793-5591793 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2000G>A; p.R667H; 19:5594098-5594098 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2846T>C; p.F949S; 19:5587259-5587259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2846T>C; p.F949S; 19:5587259-5587259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2846T>C; p.F949S; 19:5587259-5587259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2846T>C; p.F949S; 19:5587259-5587259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2269G>C; p.D757H; 19:5592826-5592826 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1959C>T; p.A653A; 19:5594139-5594139 |
skin | malignant_melanoma | Substitution - coding silent |
c.2846T>C; p.F949S; 19:5587259-5587259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2846T>C; p.F949S; 19:5587259-5587259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.221T>C; p.I74T; 19:5621362-5621362 |
breast | carcinoma | Substitution - Missense |
c.2846T>C; p.F949S; 19:5587259-5587259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2846T>C; p.F949S; 19:5587259-5587259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2846T>C; p.F949S; 19:5587259-5587259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2846T>C; p.F949S; 19:5587259-5587259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2846T>C; p.F949S; 19:5587259-5587259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2846T>C; p.F949S; 19:5587259-5587259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.620C>A; p.S207Y; 19:5612554-5612554 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2428C>T; p.P810S; 19:5590375-5590375 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2708G>A; p.R903Q; 19:5587397-5587397 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2264G>A; p.R755H; 19:5592831-5592831 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1964A>G; p.H655R; 19:5594134-5594134 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2264G>A; p.R755H; 19:5592831-5592831 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |