Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
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

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
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 groups: 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; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

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

pancreascarcinomaSubstitution - coding silent

c.1731G>A; p.S577S; 19:5598844-5598844

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1731G>A; p.S577S; 19:5598844-5598844

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2824C>T; p.H942Y; 19:5587281-5587281

breastcarcinomaSubstitution - Missense

c.1782+3G>A; p.?; 19:5598790-5598790

livercarcinoma; hepatocellular_carcinomaUnknown

c.1552A>G; p.I518V; 19:5604590-5604590

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.254C>T; p.S85L; 19:5621329-5621329

breastcarcinomaSubstitution - Missense

c.1607delA; p.K536fs*15; 19:5600213-5600213

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1607delA; p.K536fs*15; 19:5600213-5600213

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1607delA; p.K536fs*15; 19:5600213-5600213

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.634+2T>C; p.?; 19:5612538-5612538

endometriumcarcinoma; endometrioid_carcinomaUnknown

c.2574G>A; p.Q858Q; 19:5587932-5587932

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.469G>A; p.D157N; 19:5616206-5616206

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2412C>T; p.R804R; 19:5590391-5590391

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1999C>T; p.R667C; 19:5594099-5594099

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1281C>T; p.F427F; 19:5610010-5610010

skinmalignant_melanomaSubstitution - coding silent

c.2765T>C; p.L922P; 19:5587340-5587340

thyroidother; neoplasmSubstitution - Missense

c.2639-4C>T; p.?; 19:5587771-5587771

stomachcarcinoma; diffuse_adenocarcinomaUnknown

c.1426C>T; p.R476*; 19:5604807-5604807

large_intestine; coloncarcinomaSubstitution - Nonsense

c.1426C>T; p.R476*; 19:5604807-5604807

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2834C>T; p.P945L; 19:5587271-5587271

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1756A>C; p.K586Q; 19:5598819-5598819

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1839G>A; p.S613S; 19:5595441-5595441

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1153A>C; p.K385Q; 19:5610681-5610681

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2628C>T; p.A876A; 19:5587878-5587878

skinmalignant_melanomaSubstitution - coding silent

c.2509C>T; p.L837L; 19:5590294-5590294

skinmalignant_melanomaSubstitution - coding silent

c.2263C>T; p.R755C; 19:5592832-5592832

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2358T>G; p.G786G; 19:5591784-5591784

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.2044A>C; p.M682L; 19:5594054-5594054

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.165_166CC>TT; p.(=); 19:5622550-5622551

cervixcarcinoma; squamous_cell_carcinomaUnknown

c.381C>T; p.G127G; 19:5616294-5616294

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.417G>A; p.V139V; 19:5616258-5616258

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.2249T>C; p.M750T; 19:5592846-5592846

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2471delG; p.G824fs*8; 19:5590332-5590332

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.158A>T; p.K53M; 19:5622558-5622558

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2471delG; p.G824fs*8; 19:5590332-5590332

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.346A>G; p.M116V; 19:5616329-5616329

livercarcinomaSubstitution - Missense

c.2471delG; p.G824fs*8; 19:5590332-5590332

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.346A>G; p.M116V; 19:5616329-5616329

livercarcinomaSubstitution - Missense

c.2471delG; p.G824fs*8; 19:5590332-5590332

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2471_2472insG; p.Y825fs*9; 19:5590331-5590332

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaInsertion - Frameshift

c.189G>A; p.A63A; 19:5621394-5621394

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2743C>A; p.H915N; 19:5587362-5587362

skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2785A>T; p.S929C; 19:5587320-5587320

stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.2093G>A; p.R698H; 19:5594005-5594005

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2239C>T; p.R747C; 19:5592856-5592856

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2214T>G; p.D738E; 19:5592881-5592881

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1465G>T; p.G489W; 19:5604677-5604677

lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.2663C>T; p.P888L; 19:5587743-5587743

skinmalignant_melanomaSubstitution - Missense

c.2760C>G; p.G920G; 19:5587345-5587345

thyroidother; neoplasmSubstitution - coding silent

c.1560-1G>C; p.?; 19:5600261-5600261

urinary_tract; bladdercarcinomaUnknown

c.1465G>T; p.G489W; 19:5604677-5604677

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2644G>A; p.E882K; 19:5587762-5587762

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2834delC; p.P945fs*>9; 19:5587271-5587271

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.2834delC; p.P945fs*>9; 19:5587271-5587271

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2834delC; p.P945fs*>9; 19:5587271-5587271

large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.2834delC; p.P945fs*>9; 19:5587271-5587271

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2834delC; p.P945fs*>9; 19:5587271-5587271

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.2834delC; p.P945fs*>9; 19:5587271-5587271

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2834delC; p.P945fs*>9; 19:5587271-5587271

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.2834delC; p.P945fs*>9; 19:5587271-5587271

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1787C>T; p.S596F; 19:5595493-5595493

skinmalignant_melanomaSubstitution - Missense

c.1375G>A; p.D459N; 19:5604858-5604858

breastcarcinomaSubstitution - Missense

c.2626G>A; p.A876T; 19:5587880-5587880

pancreascarcinomaSubstitution - Missense

c.1297-2A>T; p.?; 19:5604938-5604938

stomachcarcinoma; adenocarcinomaUnknown

c.2520C>T; p.P840P; 19:5590283-5590283

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.605C>T; p.P202L; 19:5613466-5613466

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.220A>G; p.I74V; 19:5621363-5621363

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2279G>A; p.R760Q; 19:5592816-5592816

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1276C>T; p.L426F; 19:5610015-5610015

skinmalignant_melanomaSubstitution - Missense

c.405C>T; p.D135D; 19:5616270-5616270

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1495G>A; p.E499K; 19:5604647-5604647

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1495G>A; p.E499K; 19:5604647-5604647

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1495G>A; p.E499K; 19:5604647-5604647

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1617C>T; p.D539D; 19:5600203-5600203

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1279T>G; p.F427V; 19:5610012-5610012

skinmalignant_melanomaSubstitution - Missense

c.1944G>A; p.E648E; 19:5594154-5594154

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1191A>C; p.E397D; 19:5610643-5610643

livercarcinomaSubstitution - Missense

c.1191A>C; p.E397D; 19:5610643-5610643

livercarcinomaSubstitution - Missense

c.1262C>T; p.T421M; 19:5610029-5610029

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2042G>A; p.R681H; 19:5594056-5594056

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2446C>T; p.R816W; 19:5590357-5590357

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

thyroidother; neoplasmSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

livercarcinomaSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

urinary_tract; bladdercarcinomaSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

prostatecarcinomaSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2848A>C; p.T950P; 19:5587257-5587257

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1681A>G; p.T561A; 19:5600139-5600139

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2119C>T; p.R707C; 19:5593979-5593979

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1682C>T; p.T561I; 19:5600138-5600138

upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.406G>A; p.E136K; 19:5616269-5616269

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2360C>T; p.S787L; 19:5591782-5591782

skinmalignant_melanomaSubstitution - Missense

c.2377G>C; p.D793H; 19:5591765-5591765

urinary_tract; bladdercarcinomaSubstitution - Missense

c.2854C>T; p.R952C; 19:5587251-5587251

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2426G>A; p.G809E; 19:5590377-5590377

breastcarcinomaSubstitution - Missense

c.1832T>G; p.I611S; 19:5595448-5595448

livercarcinomaSubstitution - Missense

c.1802G>T; p.R601L; 19:5595478-5595478

breastcarcinomaSubstitution - Missense

c.1832T>G; p.I611S; 19:5595448-5595448

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2344G>A; p.D782N; 19:5592751-5592751

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2625C>T; p.H875H; 19:5587881-5587881

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1525G>A; p.D509N; 19:5604617-5604617

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2764C>T; p.L922L; 19:5587341-5587341

thyroidother; neoplasmSubstitution - coding silent

c.2508delG; p.L837fs*18; 19:5590295-5590295

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2834_2835insC; p.Y946fs*>9; 19:5587270-5587271

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1240C>T; p.L414L; 19:5610051-5610051

skinmalignant_melanomaSubstitution - coding silent

c.2343C>T; p.I781I; 19:5592752-5592752

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2834_2835insC; p.Y946fs*>9; 19:5587270-5587271

large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.180C>G; p.L60L; 19:5622536-5622536

cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2451C>T; p.D817D; 19:5590352-5590352

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2337C>T; p.H779H; 19:5592758-5592758

skinmalignant_melanomaSubstitution - coding silent

c.1444A>T; p.K482*; 19:5604789-5604789

stomachadenocarcinomaSubstitution - Nonsense

c.2185C>T; p.R729W; 19:5593913-5593913

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2579G>T; p.R860L; 19:5587927-5587927

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.621C>T; p.S207S; 19:5612553-5612553

skinmalignant_melanomaSubstitution - coding silent

c.419C>T; p.A140V; 19:5616256-5616256

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.189G>C; p.A63A; 19:5621394-5621394

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2001C>A; p.R667R; 19:5594097-5594097

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.214G>A; p.D72N; 19:5621369-5621369

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.370C>T; p.Q124*; 19:5616305-5616305

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1545G>T; p.E515D; 19:5604597-5604597

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.170T>G; p.M57R; 19:5622546-5622546

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1328G>A; p.R443H; 19:5604905-5604905

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1328G>A; p.R443H; 19:5604905-5604905

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2858A>T; p.Y953F; 19:5587247-5587247

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.588G>A; p.L196L; 19:5613483-5613483

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2580C>T; p.R860R; 19:5587926-5587926

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2580C>T; p.R860R; 19:5587926-5587926

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.439T>A; p.F147I; 19:5616236-5616236

skinmalignant_melanomaSubstitution - Missense

c.1367C>T; p.S456L; 19:5604866-5604866

prostateadenomaSubstitution - Missense

c.395G>A; p.S132N; 19:5616280-5616280

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.5C>T; p.A2V; 19:5622711-5622711

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.607-7delT; p.?; 19:5612574-5612574

oesophagus; lower_thirdcarcinoma; adenocarcinomaUnknown

c.251A>T; p.K84M; 19:5621332-5621332

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.581C>A; p.S194*; 19:5613490-5613490

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1902C>T; p.R634R; 19:5595378-5595378

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2581G>A; p.A861T; 19:5587925-5587925

breastcarcinomaSubstitution - Missense

c.2835_2837delGTA; p.Y946delY; 19:5587268-5587270

breastcarcinomaDeletion - In frame

c.2338G>A; p.A780T; 19:5592757-5592757

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2338G>A; p.A780T; 19:5592757-5592757

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.553G>T; p.E185*; 19:5613518-5613518

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2338G>A; p.A780T; 19:5592757-5592757

skinmalignant_melanomaSubstitution - Missense

c.2641G>A; p.G881S; 19:5587765-5587765

soft_tissue; fibrous_tissue_and_uncertain_odermatofibrosarcoma_protuberansSubstitution - Missense

c.1324G>A; p.A442T; 19:5604909-5604909

stomachadenocarcinomaSubstitution - Missense

c.553G>T; p.E185*; 19:5613518-5613518

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2819A>C; p.H940P; 19:5587286-5587286

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2819A>C; p.H940P; 19:5587286-5587286

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2819A>C; p.H940P; 19:5587286-5587286

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2819A>C; p.H940P; 19:5587286-5587286

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2684C>T; p.A895V; 19:5587722-5587722

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2819A>C; p.H940P; 19:5587286-5587286

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2819A>C; p.H940P; 19:5587286-5587286

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2103G>A; p.E701E; 19:5593995-5593995

skinmalignant_melanomaSubstitution - coding silent

c.112C>G; p.L38V; 19:5622604-5622604

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1801C>T; p.R601C; 19:5595479-5595479

skinmalignant_melanomaSubstitution - Missense

c.1502A>G; p.K501R; 19:5604640-5604640

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2601C>T; p.D867D; 19:5587905-5587905

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.2823T>C; p.P941P; 19:5587282-5587282

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1443G>T; p.E481D; 19:5604790-5604790

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.132G>A; p.K44K; 19:5622584-5622584

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.296G>A; p.G99D; 19:5616465-5616465

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2837A>C; p.Y946S; 19:5587268-5587268

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2837A>C; p.Y946S; 19:5587268-5587268

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2837A>C; p.Y946S; 19:5587268-5587268

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2837A>C; p.Y946S; 19:5587268-5587268

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2837A>C; p.Y946S; 19:5587268-5587268

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.606G>A; p.P202P; 19:5613465-5613465

livercarcinomaSubstitution - coding silent

c.2837A>C; p.Y946S; 19:5587268-5587268

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2837A>C; p.Y946S; 19:5587268-5587268

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2837A>C; p.Y946S; 19:5587268-5587268

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2837A>C; p.Y946S; 19:5587268-5587268

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2837A>C; p.Y946S; 19:5587268-5587268

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2837A>C; p.Y946S; 19:5587268-5587268

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2837A>C; p.Y946S; 19:5587268-5587268

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2837A>C; p.Y946S; 19:5587268-5587268

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2837A>C; p.Y946S; 19:5587268-5587268

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2837A>C; p.Y946S; 19:5587268-5587268

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.606G>A; p.P202P; 19:5613465-5613465

livercarcinomaSubstitution - coding silent

c.2837A>C; p.Y946S; 19:5587268-5587268

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2837A>C; p.Y946S; 19:5587268-5587268

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2837A>C; p.Y946S; 19:5587268-5587268

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2837A>C; p.Y946S; 19:5587268-5587268

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2837A>C; p.Y946S; 19:5587268-5587268

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2837A>C; p.Y946S; 19:5587268-5587268

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1709G>A; p.R570Q; 19:5598866-5598866

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2153A>G; p.Q718R; 19:5593945-5593945

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.1657G>A; p.G553R; 19:5600163-5600163

pancreascarcinomaSubstitution - Missense

c.2162A>G; p.Y721C; 19:5593936-5593936

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2833_2834delCC; p.P945fs*>9; 19:5587271-5587272

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.2503C>T; p.R835W; 19:5590300-5590300

pancreascarcinomaSubstitution - Missense

c.2209C>T; p.R737*; 19:5592886-5592886

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.2503C>T; p.R835W; 19:5590300-5590300

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1094C>G; p.P365R; 19:5611171-5611171

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.418G>A; p.A140T; 19:5616257-5616257

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1342C>T; p.R448*; 19:5604891-5604891

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2563G>A; p.E855K; 19:5587943-5587943

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2276C>T; p.P759L; 19:5592819-5592819

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1716C>T; p.V572V; 19:5598859-5598859

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1165G>T; p.D389Y; 19:5610669-5610669

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2349G>A; p.R783R; 19:5591793-5591793

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2000G>A; p.R667H; 19:5594098-5594098

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2846T>C; p.F949S; 19:5587259-5587259

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2846T>C; p.F949S; 19:5587259-5587259

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2846T>C; p.F949S; 19:5587259-5587259

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2846T>C; p.F949S; 19:5587259-5587259

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2269G>C; p.D757H; 19:5592826-5592826

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1959C>T; p.A653A; 19:5594139-5594139

skinmalignant_melanomaSubstitution - coding silent

c.2846T>C; p.F949S; 19:5587259-5587259

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2846T>C; p.F949S; 19:5587259-5587259

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.221T>C; p.I74T; 19:5621362-5621362

breastcarcinomaSubstitution - Missense

c.2846T>C; p.F949S; 19:5587259-5587259

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2846T>C; p.F949S; 19:5587259-5587259

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2846T>C; p.F949S; 19:5587259-5587259

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2846T>C; p.F949S; 19:5587259-5587259

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2846T>C; p.F949S; 19:5587259-5587259

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2846T>C; p.F949S; 19:5587259-5587259

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.620C>A; p.S207Y; 19:5612554-5612554

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2428C>T; p.P810S; 19:5590375-5590375

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2708G>A; p.R903Q; 19:5587397-5587397

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2264G>A; p.R755H; 19:5592831-5592831

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1964A>G; p.H655R; 19:5594134-5594134

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2264G>A; p.R755H; 19:5592831-5592831

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense


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