General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 7157 |
Name | TP53 |
Synonymous | tumor protein p53;TP53;tumor protein p53 |
Definition | antigen NY-CO-13|cellular tumor antigen p53|mutant tumor protein 53|p53 tumor suppressor|phosphoprotein p53|transformation-related protein 53|tumor protein 53 |
Position | 17p13.1 |
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.625_629delAGAAA; p.R209fs*5; 17:7674902-7674906 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.731_736delGCGGCA; p.G244_M246>V; 17:7674227-7674232 |
ovary | carcinoma; serous_carcinoma | Complex - deletion inframe |
c.790C>T; p.L264L; 17:7673830-7673830 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.626G>T; p.R209I; 17:7674905-7674905 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1033A>G; p.N345D; 17:7670676-7670676 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.783T>A; p.S261R; 17:7673837-7673837 |
ovary | carcinoma | Substitution - Missense |
c.827C>T; p.A276V; 17:7673793-7673793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.828C>A; p.A276A; 17:7673792-7673792 |
oesophagus | carcinoma | Substitution - coding silent |
c.827C>T; p.A276V; 17:7673793-7673793 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.790C>T; p.L264L; 17:7673830-7673830 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.856_863delGAAGAGAA; p.E286fs*17; 17:7673757-7673764 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.718A>C; p.S240R; 17:7674245-7674245 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Substitution - Missense |
c.481_482GC>TT; p.A161F; 17:7675130-7675131 |
ovary | carcinoma | Substitution - Missense |
c.467delG; p.R156fs*14; 17:7675145-7675145 |
ovary | carcinoma | Deletion - Frameshift |
c.626G>T; p.R209I; 17:7674905-7674905 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.790C>T; p.L264L; 17:7673830-7673830 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.827C>T; p.A276V; 17:7673793-7673793 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.673-50_673-49insN; p.?; 17:7674339-7674340 |
breast | carcinoma | Unknown |
c.790C>T; p.L264L; 17:7673830-7673830 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.790C>T; p.L264L; 17:7673830-7673830 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.376-1delG; p.?; 17:7675237-7675237 |
endometrium | carcinoma | Unknown |
c.772_782del11; p.E258fs*2; 17:7674181-7674191 |
ovary | carcinoma | Deletion - Frameshift |
c.856_863delGAAGAGAA; p.E286fs*17; 17:7673757-7673764 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.376-1delG; p.?; 17:7675237-7675237 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.354A>G; p.T118T; 17:7676015-7676015 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.827C>T; p.A276V; 17:7673793-7673793 |
prostate | carcinoma | Substitution - Missense |
c.827C>T; p.A276V; 17:7673793-7673793 |
ovary | carcinoma; mixed_carcinoma | Substitution - Missense |
c.502_508delCACATGA; p.H168fs*4; 17:7675104-7675110 |
breast | carcinoma | Deletion - Frameshift |
c.827C>T; p.A276V; 17:7673793-7673793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_I | Substitution - Missense |
c.827C>T; p.A276V; 17:7673793-7673793 |
breast | carcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.301delA; p.T102fs*21; 17:7676068-7676068 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.329G>C; p.R110P; 17:7676040-7676040 |
breast | carcinoma | Substitution - Missense |
c.329G>C; p.R110P; 17:7676040-7676040 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.830G>T; p.C277F; 17:7673790-7673790 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.452C>T; p.P151L; 17:7675160-7675160 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.329G>C; p.R110P; 17:7676040-7676040 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.329G>C; p.R110P; 17:7676040-7676040 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.364G>T; p.V122L; 17:7676005-7676005 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.611A>T; p.E204V; 17:7674920-7674920 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.830G>T; p.C277F; 17:7673790-7673790 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.830G>T; p.C277F; 17:7673790-7673790 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.854A>C; p.E285A; 17:7673766-7673766 |
salivary_gland; maxilla | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.538G>A; p.E180K; 17:7675074-7675074 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.759_761delCAT; p.I254del; 17:7674202-7674204 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Deletion - In frame |
c.830G>T; p.C277F; 17:7673790-7673790 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.329G>C; p.R110P; 17:7676040-7676040 |
pancreas | carcinoma | Substitution - Missense |
c.830G>T; p.C277F; 17:7673790-7673790 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.830G>T; p.C277F; 17:7673790-7673790 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.538G>A; p.E180K; 17:7675074-7675074 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.1123C>A; p.Q375K; 17:7669668-7669668 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
pancreas | carcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
breast | carcinoma | Substitution - Missense |
c.759_761delCAT; p.I254del; 17:7674202-7674204 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - In frame |
c.824G>T; p.C275F; 17:7673796-7673796 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
breast | carcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
bone; pelvis | chondrosarcoma | Substitution - Missense |
c.830G>T; p.C277F; 17:7673790-7673790 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.329G>C; p.R110P; 17:7676040-7676040 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.830G>T; p.C277F; 17:7673790-7673790 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.538G>A; p.E180K; 17:7675074-7675074 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.847_848insT; p.R283fs*23; 17:7673772-7673773 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.490delA; p.K164fs*6; 17:7675122-7675122 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.452C>T; p.P151L; 17:7675160-7675160 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.720T>C; p.S240S; 17:7674243-7674243 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - coding silent |
c.538G>A; p.E180K; 17:7675074-7675074 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.216_217insN; p.V73fs*76; 17:7676152-7676153 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.766delA; p.T256fs*89; 17:7674197-7674197 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.824G>T; p.C275F; 17:7673796-7673796 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.830G>T; p.C277F; 17:7673790-7673790 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.452C>T; p.P151L; 17:7675160-7675160 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.371G>A; p.C124Y; 17:7675998-7675998 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.729delG; p.G244fs*3; 17:7674234-7674234 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.824G>T; p.C275F; 17:7673796-7673796 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.830G>T; p.C277F; 17:7673790-7673790 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
breast | carcinoma | Substitution - Missense |
c.301delA; p.T102fs*21; 17:7676068-7676068 |
breast | carcinoma | Deletion - Frameshift |
c.720T>C; p.S240S; 17:7674243-7674243 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour | Substitution - coding silent |
c.824G>T; p.C275F; 17:7673796-7673796 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.329G>C; p.R110P; 17:7676040-7676040 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour | Substitution - Missense |
c.490delA; p.K164fs*6; 17:7675122-7675122 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Deletion - Frameshift |
c.824G>T; p.C275F; 17:7673796-7673796 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.216_217insN; p.V73fs*76; 17:7676152-7676153 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.824G>T; p.C275F; 17:7673796-7673796 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.830G>T; p.C277F; 17:7673790-7673790 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.830G>T; p.C277F; 17:7673790-7673790 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.438G>T; p.W146C; 17:7675174-7675174 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.573T>C; p.P191P; 17:7674958-7674958 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.766delA; p.T256fs*89; 17:7674197-7674197 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.824G>T; p.C275F; 17:7673796-7673796 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.830G>T; p.C277F; 17:7673790-7673790 |
breast | carcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
breast | carcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.796delG; p.G266fs*79; 17:7673824-7673824 |
breast | carcinoma | Deletion - Frameshift |
c.830G>T; p.C277F; 17:7673790-7673790 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.538G>A; p.E180K; 17:7675074-7675074 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.900C>T; p.P300P; 17:7673720-7673720 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.627_628insNNNN; p.N210fs*7; 17:7674903-7674904 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.766delA; p.T256fs*89; 17:7674197-7674197 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.824G>T; p.C275F; 17:7673796-7673796 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
breast | carcinoma | Substitution - Missense |
c.830G>T; p.C277F; 17:7673790-7673790 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.329G>C; p.R110P; 17:7676040-7676040 |
breast | carcinoma | Substitution - Missense |
c.329G>C; p.R110P; 17:7676040-7676040 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.830G>T; p.C277F; 17:7673790-7673790 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.329G>C; p.R110P; 17:7676040-7676040 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.329G>C; p.R110P; 17:7676040-7676040 |
central_nervous_system; brainstem | glioma; oligoastrocytoma_Grade_II | Substitution - Missense |
c.538G>A; p.E180K; 17:7675074-7675074 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.830G>T; p.C277F; 17:7673790-7673790 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.830G>T; p.C277F; 17:7673790-7673790 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.720T>C; p.S240S; 17:7674243-7674243 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.824G>T; p.C275F; 17:7673796-7673796 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742_744CGG>TGC; p.R248C; 17:7674219-7674221 |
skin; face | benign_melanocytic_nevus; dysplastic | Substitution - Missense |
c.830G>T; p.C277F; 17:7673790-7673790 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.452C>T; p.P151L; 17:7675160-7675160 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.830G>T; p.C277F; 17:7673790-7673790 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.452C>T; p.P151L; 17:7675160-7675160 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.972T>G; p.D324E; 17:7673556-7673556 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.438G>T; p.W146C; 17:7675174-7675174 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.452C>T; p.P151L; 17:7675160-7675160 |
lung | carcinoma; blastoma | Substitution - Missense |
c.452C>T; p.P151L; 17:7675160-7675160 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.830G>T; p.C277F; 17:7673790-7673790 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.830G>T; p.C277F; 17:7673790-7673790 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.329G>C; p.R110P; 17:7676040-7676040 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.673_678delGTTGGC; p.V225_G226delVG; 17:7674285-7674290 |
ovary | other; neoplasm | Deletion - In frame |
c.824G>T; p.C275F; 17:7673796-7673796 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
lung | carcinoma | Substitution - Missense |
c.279G>T; p.L93L; 17:7676090-7676090 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.854A>C; p.E285A; 17:7673766-7673766 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.824G>T; p.C275F; 17:7673796-7673796 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.291C>T; p.V97V; 17:7676078-7676078 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.783-3T>A; p.?; 17:7673840-7673840 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.796delG; p.G266fs*79; 17:7673824-7673824 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.584T>G; p.I195S; 17:7674947-7674947 |
ovary | carcinoma | Substitution - Missense |
c.919_931del13; p.A307fs*34; 17:7673597-7673701 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - Frameshift |
c.670G>T; p.E224*; 17:7674861-7674861 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.584T>G; p.I195S; 17:7674947-7674947 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832_833CC>TT; p.P278F; 17:7673787-7673788 |
skin; eye | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.166G>A; p.E56K; 17:7676203-7676203 |
breast | hyperplasia | Substitution - Missense |
c.721T>A; p.S241T; 17:7674242-7674242 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.584T>G; p.I195S; 17:7674947-7674947 |
lung | carcinoma | Substitution - Missense |
c.251C>T; p.A84V; 17:7676118-7676118 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia | Substitution - Missense |
c.486C>T; p.I162I; 17:7675126-7675126 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - coding silent |
c.533_535delACC; p.H179delH; 17:7675077-7675079 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.617delT; p.L206fs*41; 17:7674914-7674914 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; MALT_lymphoma | Deletion - Frameshift |
c.833C>A; p.P278H; 17:7673787-7673787 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.145_146delGA; p.D49fs*2; 17:7676223-7676224 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Deletion - Frameshift |
c.617delT; p.L206fs*41; 17:7674914-7674914 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.454_455insC; p.P153fs*28; 17:7675157-7675158 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.670G>T; p.E224*; 17:7674861-7674861 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.436T>C; p.W146R; 17:7675176-7675176 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.833C>A; p.P278H; 17:7673787-7673787 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Missense |
c.833C>A; p.P278H; 17:7673787-7673787 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.721T>A; p.S241T; 17:7674242-7674242 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.721T>A; p.S241T; 17:7674242-7674242 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.251C>T; p.A84V; 17:7676118-7676118 |
central_nervous_system; brain | glioma; astrocytoma_Grade_I | Substitution - Missense |
c.850A>G; p.T284A; 17:7673770-7673770 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.619_626delGATGACAG; p.D207fs*6; 17:7674905-7674912 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.833C>A; p.P278H; 17:7673787-7673787 |
central_nervous_system; brain | glioma; oligodendroglioma | Substitution - Missense |
c.724delT; p.C242fs*5; 17:7674239-7674239 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.617delT; p.L206fs*41; 17:7674914-7674914 |
liver | carcinoma | Deletion - Frameshift |
c.466C>T; p.R156C; 17:7675146-7675146 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.833C>A; p.P278H; 17:7673787-7673787 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.670G>T; p.E224*; 17:7674861-7674861 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.833C>A; p.P278H; 17:7673787-7673787 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.721T>A; p.S241T; 17:7674242-7674242 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.617delT; p.L206fs*41; 17:7674914-7674914 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; MALT_lymphoma | Deletion - Frameshift |
c.833C>A; p.P278H; 17:7673787-7673787 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.255_256insNNNN; p.A86fs*64; 17:7676113-7676114 |
upper_aerodigestive_tract; larynx | carcinoma | Insertion - Frameshift |
c.251C>T; p.A84V; 17:7676118-7676118 |
skin; head_neck | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.721T>A; p.S241T; 17:7674242-7674242 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1126T>G; p.S376A; 17:7669665-7669665 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.850A>G; p.T284A; 17:7673770-7673770 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.670G>T; p.E224*; 17:7674861-7674861 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.251C>T; p.A84V; 17:7676118-7676118 |
central_nervous_system; brain | glioma; astrocytoma_Grade_I | Substitution - Missense |
c.584T>G; p.I195S; 17:7674947-7674947 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.451_452delCC; p.P152fs*28; 17:7675160-7675161 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.426T>A; p.P142P; 17:7675186-7675186 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.139_140delCC; p.P47fs*4; 17:7676229-7676230 |
skin; arm | carcinoma; basal_cell_carcinoma | Deletion - Frameshift |
c.436T>C; p.W146R; 17:7675176-7675176 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.469_473delGTCCG; p.V157fs*22; 17:7675139-7675143 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.833C>A; p.P278H; 17:7673787-7673787 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.803A>G; p.N268S; 17:7673817-7673817 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.466C>T; p.R156C; 17:7675146-7675146 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.442G>C; p.D148H; 17:7675170-7675170 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.416A>G; p.K139R; 17:7675196-7675196 |
kidney | Wilms_tumour | Substitution - Missense |
c.469_473delGTCCG; p.V157fs*22; 17:7675139-7675143 |
breast | carcinoma | Deletion - Frameshift |
c.852_866del15; p.E285_L289delEEENL; 17:7673754-7673768 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.584T>G; p.I195S; 17:7674947-7674947 |
lung | carcinoma | Substitution - Missense |
c.833C>A; p.P278H; 17:7673787-7673787 |
prostate | carcinoma | Substitution - Missense |
c.466C>T; p.R156C; 17:7675146-7675146 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.584T>G; p.I195S; 17:7674947-7674947 |
gastrointestinal_tract_(site_indeterminate) | carcinoma | Substitution - Missense |
c.1175C>T; p.S392L; 17:7669616-7669616 |
breast | carcinoma | Substitution - Missense |
c.833C>A; p.P278H; 17:7673787-7673787 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour | Substitution - Missense |
c.436T>C; p.W146R; 17:7675176-7675176 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.832_833CC>TT; p.P278F; 17:7673787-7673788 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.833C>A; p.P278H; 17:7673787-7673787 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.486C>T; p.I162I; 17:7675126-7675126 |
breast | carcinoma | Substitution - coding silent |
c.913A>G; p.K305E; 17:7673707-7673707 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.678C>A; p.G226G; 17:7674285-7674285 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.139_140delCC; p.P47fs*4; 17:7676229-7676230 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.803A>G; p.N268S; 17:7673817-7673817 |
thyroid | carcinoma; papillary_carcinoma | Substitution - Missense |
c.833C>A; p.P278H; 17:7673787-7673787 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.994-8T>A; p.?; 17:7670723-7670723 |
pancreas | carcinoma | Unknown |
c.466C>T; p.R156C; 17:7675146-7675146 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.166G>A; p.E56K; 17:7676203-7676203 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.833C>A; p.P278H; 17:7673787-7673787 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.436T>C; p.W146R; 17:7675176-7675176 |
breast | carcinoma | Substitution - Missense |
c.850A>G; p.T284A; 17:7673770-7673770 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.617delT; p.L206fs*41; 17:7674914-7674914 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.721T>A; p.S241T; 17:7674242-7674242 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.545_546insCA; p.S183fs*65; 17:7675066-7675067 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.833C>A; p.P278H; 17:7673787-7673787 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.833C>A; p.P278H; 17:7673787-7673787 |
breast | carcinoma | Substitution - Missense |
c.440T>C; p.V147A; 17:7675172-7675172 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.440T>C; p.V147A; 17:7675172-7675172 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.833C>A; p.P278H; 17:7673787-7673787 |
pancreas | carcinoma | Substitution - Missense |
c.832_833CC>TT; p.P278F; 17:7673787-7673788 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.584T>G; p.I195S; 17:7674947-7674947 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.416A>G; p.K139R; 17:7675196-7675196 |
breast | carcinoma | Substitution - Missense |
c.833C>A; p.P278H; 17:7673787-7673787 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.670G>T; p.E224*; 17:7674861-7674861 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.166G>A; p.E56K; 17:7676203-7676203 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.398delT; p.M133fs*37; 17:7675214-7675214 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Deletion - Frameshift |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733_740delGGCATGAA; p.G245fs*16; 17:7674223-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1025G>A; p.R342Q; 17:7670684-7670684 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.388C>G; p.L130V; 17:7675224-7675224 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.388C>G; p.L130V; 17:7675224-7675224 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.388C>G; p.L130V; 17:7675224-7675224 |
breast | carcinoma | Substitution - Missense |
c.695T>A; p.I232N; 17:7674268-7674268 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.159G>T; p.W53C; 17:7676210-7676210 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.703A>G; p.N235D; 17:7674260-7674260 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; ureter | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.479T>G; p.M160R; 17:7675133-7675133 |
ovary | other; neoplasm | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.607G>T; p.V203L; 17:7674924-7674924 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.388C>G; p.L130V; 17:7675224-7675224 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.515T>A; p.V172D; 17:7675097-7675097 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.695T>A; p.I232N; 17:7674268-7674268 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.388C>G; p.L130V; 17:7675224-7675224 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.515T>A; p.V172D; 17:7675097-7675097 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia | Substitution - Missense |
c.515T>A; p.V172D; 17:7675097-7675097 |
breast | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
liver | carcinoma | Substitution - Missense |
c.607G>T; p.V203L; 17:7674924-7674924 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.703A>G; p.N235D; 17:7674260-7674260 |
soft_tissue; fibrous_tissue_and_uncertain_o | synovial_sarcoma | Substitution - Missense |
c.319T>G; p.Y107D; 17:7676050-7676050 |
breast | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.319T>G; p.Y107D; 17:7676050-7676050 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.515T>A; p.V172D; 17:7675097-7675097 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
breast | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; spindle_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.630_631insN; p.T211fs*5; 17:7674900-7674901 |
stomach | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.214C>T; p.P72S; 17:7676155-7676155 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.607G>T; p.V203L; 17:7674924-7674924 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.388C>G; p.L130V; 17:7675224-7675224 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Substitution - Missense |
c.319T>G; p.Y107D; 17:7676050-7676050 |
prostate | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.423_425delCCC; p.P142delP; 17:7675187-7675189 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.853G>A; p.E285K; 17:7673767-7673767 |
breast | carcinoma | Substitution - Missense |
c.703A>G; p.N235D; 17:7674260-7674260 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
skin; face | other; keratosis | Substitution - Missense |
c.388C>G; p.L130V; 17:7675224-7675224 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.515T>A; p.V172D; 17:7675097-7675097 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.695T>A; p.I232N; 17:7674268-7674268 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
breast | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
skin | malignant_melanoma | Substitution - Missense |
c.593_601delAAGGAAATT; p.E198_L201>V; 17:7674930-7674938 |
pancreas | NS | Unknown |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.607G>T; p.V203L; 17:7674924-7674924 |
pleura | pulmonary_blastoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
pancreas | carcinoma | Substitution - Missense |
c.603G>A; p.L201L; 17:7674928-7674928 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.853G>A; p.E285K; 17:7673767-7673767 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
breast | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.388C>G; p.L130V; 17:7675224-7675224 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.695T>A; p.I232N; 17:7674268-7674268 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.388C>G; p.L130V; 17:7675224-7675224 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.472_475delCGCG; p.R158fs*11; 17:7675137-7675140 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.472_475delCGCG; p.R158fs*11; 17:7675137-7675140 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.761T>C; p.I254T; 17:7674202-7674202 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.388C>G; p.L130V; 17:7675224-7675224 |
breast | carcinoma | Substitution - Missense |
c.319T>G; p.Y107D; 17:7676050-7676050 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.315_320delCAGCTA; p.S106_Y107delSY; 17:7676049-7676054 |
breast | carcinoma | Deletion - In frame |
c.853G>A; p.E285K; 17:7673767-7673767 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.761T>C; p.I254T; 17:7674202-7674202 |
breast | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.515T>A; p.V172D; 17:7675097-7675097 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.319T>G; p.Y107D; 17:7676050-7676050 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.319T>G; p.Y107D; 17:7676050-7676050 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.554G>A; p.S185N; 17:7675058-7675058 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.388C>G; p.L130V; 17:7675224-7675224 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.388C>G; p.L130V; 17:7675224-7675224 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
breast | carcinoma | Substitution - Missense |
c.742_750delCGGAGGCCC; p.R248_P250delRRP; 17:7674213-7674221 |
central_nervous_system; frontal_lobe | glioma; astrocytoma | Deletion - In frame |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.388C>G; p.L130V; 17:7675224-7675224 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.709_713delATGTG; p.M237fs*1; 17:7674250-7674254 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.853G>A; p.E285K; 17:7673767-7673767 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.472_475delCGCG; p.R158fs*11; 17:7675137-7675140 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Deletion - Frameshift |
c.388C>G; p.L130V; 17:7675224-7675224 |
breast | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.388C>G; p.L130V; 17:7675224-7675224 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.515T>A; p.V172D; 17:7675097-7675097 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
large_intestine; appendix | carcinoid-endocrine_tumour | Substitution - Missense |
c.703A>G; p.N235D; 17:7674260-7674260 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1025G>A; p.R342Q; 17:7670684-7670684 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.515T>A; p.V172D; 17:7675097-7675097 |
breast | carcinoma | Substitution - Missense |
c.515T>A; p.V172D; 17:7675097-7675097 |
breast | carcinoma | Substitution - Missense |
c.421_428delTGCCCTGT; p.C141fs*5; 17:7675184-7675191 |
breast | carcinoma | Deletion - Frameshift |
c.853G>A; p.E285K; 17:7673767-7673767 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.214C>T; p.P72S; 17:7676155-7676155 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.761T>C; p.I254T; 17:7674202-7674202 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.388C>G; p.L130V; 17:7675224-7675224 |
breast | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.515T>A; p.V172D; 17:7675097-7675097 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.515T>A; p.V172D; 17:7675097-7675097 |
breast | carcinoma | Substitution - Missense |
c.911C>A; p.T304N; 17:7673709-7673709 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
skin; arm | adnexal_tumour; malignant_adnexal_tumour | Substitution - Missense |
c.319T>G; p.Y107D; 17:7676050-7676050 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.388C>G; p.L130V; 17:7675224-7675224 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.695T>A; p.I232N; 17:7674268-7674268 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
breast | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.703A>G; p.N235D; 17:7674260-7674260 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
eye; conjunctiva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.214C>T; p.P72S; 17:7676155-7676155 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
breast | carcinoma | Substitution - Missense |
c.669T>G; p.P223P; 17:7674862-7674862 |
oesophagus | carcinoma | Substitution - coding silent |
c.853G>A; p.E285K; 17:7673767-7673767 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.695T>A; p.I232N; 17:7674268-7674268 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
pancreas | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
breast | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
liver | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
breast | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.761T>C; p.I254T; 17:7674202-7674202 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.607G>T; p.V203L; 17:7674924-7674924 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.703A>G; p.N235D; 17:7674260-7674260 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.515T>A; p.V172D; 17:7675097-7675097 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; MALT_lymphoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.109T>A; p.S37T; 17:7676260-7676260 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
prostate | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.319T>G; p.Y107D; 17:7676050-7676050 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
breast | carcinoma | Substitution - Missense |
c.853G>A; p.E285K; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.709_713delATGTG; p.M237fs*1; 17:7674250-7674254 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Deletion - Frameshift |
c.424_432delCCTGTGCAG; p.P142_Q144delPVQ; 17:7675180-7675188 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.703A>G; p.N235D; 17:7674260-7674260 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.633T>C; p.T211T; 17:7674898-7674898 |
breast | carcinoma | Substitution - coding silent |
c.633T>C; p.T211T; 17:7674898-7674898 |
breast | carcinoma | Substitution - coding silent |
c.820G>C; p.V274L; 17:7673800-7673800 |
stomach | carcinoma; undifferentiated_adenocarcinoma | Substitution - Missense |
c.770T>C; p.L257P; 17:7674193-7674193 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.820G>C; p.V274L; 17:7673800-7673800 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.603_604GC>TT; p.L201_R202>FC; 17:7674927-7674928 |
skin; arm | in_situ_epithelial_neoplasm; actinic_keratosis | Complex - compound substitution |
c.759C>T; p.T253T; 17:7674204-7674204 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; MALT_lymphoma | Substitution - coding silent |
c.762C>T; p.I254I; 17:7674201-7674201 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.504delC; p.H168fs*2; 17:7675108-7675108 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.633T>C; p.T211T; 17:7674898-7674898 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.820G>C; p.V274L; 17:7673800-7673800 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.452C>G; p.P151R; 17:7675160-7675160 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.452C>G; p.P151R; 17:7675160-7675160 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.589G>C; p.V197L; 17:7674942-7674942 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.770T>C; p.L257P; 17:7674193-7674193 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.989delT; p.Q331fs*14; 17:7673539-7673539 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.617T>A; p.L206*; 17:7674914-7674914 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.393_395delCAA; p.N131delN; 17:7675217-7675219 |
central_nervous_system; intraventricular | glioma; astrocytoma_Grade_IV | Deletion - In frame |
c.389T>C; p.L130P; 17:7675223-7675223 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.820G>C; p.V274L; 17:7673800-7673800 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.504C>T; p.H168H; 17:7675108-7675108 |
bone | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | Substitution - coding silent |
c.1021T>C; p.F341L; 17:7670688-7670688 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.439G>A; p.V147I; 17:7675173-7675173 |
breast | carcinoma | Substitution - Missense |
c.759C>T; p.T253T; 17:7674204-7674204 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; MALT_lymphoma | Substitution - coding silent |
c.513G>C; p.E171D; 17:7675099-7675099 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.389T>C; p.L130P; 17:7675223-7675223 |
genital_tract; extragonadal | germ_cell_tumour | Substitution - Missense |
c.617T>A; p.L206*; 17:7674914-7674914 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.811_819delGAGGTGCGT; p.E271_R273delEVR; 17:7673801-7673809 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.820G>C; p.V274L; 17:7673800-7673800 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.442_444GAT>TGA; p.D148*; 17:7675168-7675170 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.439G>A; p.V147I; 17:7675173-7675173 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.633T>C; p.T211T; 17:7674898-7674898 |
breast | carcinoma | Substitution - coding silent |
c.389T>C; p.L130P; 17:7675223-7675223 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.513G>C; p.E171D; 17:7675099-7675099 |
breast | carcinoma | Substitution - Missense |
c.770T>C; p.L257P; 17:7674193-7674193 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.617T>A; p.L206*; 17:7674914-7674914 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.900C>A; p.P300P; 17:7673720-7673720 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.452C>G; p.P151R; 17:7675160-7675160 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.967_968CT>GG; p.L323G; 17:7673560-7673561 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.709A>T; p.M237L; 17:7674254-7674254 |
ovary | carcinoma | Substitution - Missense |
c.820G>C; p.V274L; 17:7673800-7673800 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.820G>C; p.V274L; 17:7673800-7673800 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.439G>A; p.V147I; 17:7675173-7675173 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm | Substitution - Missense |
c.452C>G; p.P151R; 17:7675160-7675160 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.397delA; p.M133fs*37; 17:7675215-7675215 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.696C>A; p.I232I; 17:7674267-7674267 |
breast | carcinoma | Substitution - coding silent |
c.759C>T; p.T253T; 17:7674204-7674204 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.504C>T; p.H168H; 17:7675108-7675108 |
breast | carcinoma | Substitution - coding silent |
c.617T>A; p.L206*; 17:7674914-7674914 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.770T>C; p.L257P; 17:7674193-7674193 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.389T>C; p.L130P; 17:7675223-7675223 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.770T>C; p.L257P; 17:7674193-7674193 |
pancreas | carcinoma | Substitution - Missense |
c.820G>C; p.V274L; 17:7673800-7673800 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.820G>C; p.V274L; 17:7673800-7673800 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.452C>G; p.P151R; 17:7675160-7675160 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.633T>C; p.T211T; 17:7674898-7674898 |
breast | carcinoma | Substitution - coding silent |
c.770T>C; p.L257P; 17:7674193-7674193 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.633T>C; p.T211T; 17:7674898-7674898 |
breast | carcinoma | Substitution - coding silent |
c.765_767delCAC; p.T256delT; 17:7674196-7674198 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.504C>T; p.H168H; 17:7675108-7675108 |
cervix | carcinoma | Substitution - coding silent |
c.709A>T; p.M237L; 17:7674254-7674254 |
cervix | carcinoma | Substitution - Missense |
c.393_395delCAA; p.N131delN; 17:7675217-7675219 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Deletion - In frame |
c.770T>C; p.L257P; 17:7674193-7674193 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.820G>C; p.V274L; 17:7673800-7673800 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.634T>C; p.F212L; 17:7674897-7674897 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.439G>A; p.V147I; 17:7675173-7675173 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.705_706insN; p.Y236fs*4; 17:7674257-7674258 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.633T>C; p.T211T; 17:7674898-7674898 |
breast | carcinoma | Substitution - coding silent |
c.439G>A; p.V147I; 17:7675173-7675173 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.820G>C; p.V274L; 17:7673800-7673800 |
kidney | Wilms_tumour | Substitution - Missense |
c.644_645GT>N; p.S215fs*32; 17:7674886-7674887 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Complex - frameshift |
c.968T>G; p.L323R; 17:7673560-7673560 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.692C>A; p.T231N; 17:7674271-7674271 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.617T>A; p.L206*; 17:7674914-7674914 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.633T>C; p.T211T; 17:7674898-7674898 |
breast | carcinoma | Substitution - coding silent |
c.633T>C; p.T211T; 17:7674898-7674898 |
breast | carcinoma | Substitution - coding silent |
c.617T>A; p.L206*; 17:7674914-7674914 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.452C>G; p.P151R; 17:7675160-7675160 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.820G>C; p.V274L; 17:7673800-7673800 |
ovary | carcinoma | Substitution - Missense |
c.393_395delCAA; p.N131delN; 17:7675217-7675219 |
kidney | carcinoma; chromophobe_renal_cell_carcinoma | Deletion - In frame |
c.504C>T; p.H168H; 17:7675108-7675108 |
cervix | in_situ_neoplasm; cervical_intraepithelial_neoplasia_Grade_III | Substitution - coding silent |
c.617T>A; p.L206*; 17:7674914-7674914 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.617T>A; p.L206*; 17:7674914-7674914 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.709A>T; p.M237L; 17:7674254-7674254 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.397delA; p.M133fs*37; 17:7675215-7675215 |
breast | carcinoma | Deletion - Frameshift |
c.770T>C; p.L257P; 17:7674193-7674193 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.393_395delCAA; p.N131delN; 17:7675217-7675219 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.770T>C; p.L257P; 17:7674193-7674193 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.205_206delGC; p.A69fs*79; 17:7676163-7676164 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.617T>A; p.L206*; 17:7674914-7674914 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.770T>C; p.L257P; 17:7674193-7674193 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.770T>C; p.L257P; 17:7674193-7674193 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.452C>G; p.P151R; 17:7675160-7675160 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.389T>C; p.L130P; 17:7675223-7675223 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.847delC; p.R283fs*62; 17:7673773-7673773 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.439G>A; p.V147I; 17:7675173-7675173 |
large_intestine; appendix | carcinoid-endocrine_tumour | Substitution - Missense |
c.760A>C; p.I254L; 17:7674203-7674203 |
central_nervous_system; temporoparietal | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.393_395delCAA; p.N131delN; 17:7675217-7675219 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.452C>G; p.P151R; 17:7675160-7675160 |
ovary | other; neoplasm | Substitution - Missense |
c.847delC; p.R283fs*62; 17:7673773-7673773 |
urinary_tract; bladder | carcinoma | Deletion - Frameshift |
c.765_767delCAC; p.T256delT; 17:7674196-7674198 |
lung | carcinoma; adenocarcinoma | Deletion - In frame |
c.847delC; p.R283fs*62; 17:7673773-7673773 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.709A>T; p.M237L; 17:7674254-7674254 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.428T>C; p.V143A; 17:7675184-7675184 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.676delG; p.G226fs*21; 17:7674287-7674287 |
endometrium | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.659A>C; p.Y220S; 17:7674872-7674872 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.28G>A; p.V10I; 17:7676567-7676567 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.569C>T; p.P190L; 17:7674962-7674962 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.626G>C; p.R209T; 17:7674905-7674905 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.712T>C; p.C238R; 17:7674251-7674251 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.648_649insN; p.V217fs*5; 17:7674882-7674883 |
lung | carcinoma; large_cell_carcinoma | Insertion - Frameshift |
c.569C>T; p.P190L; 17:7674962-7674962 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.666G>T; p.P222P; 17:7674865-7674865 |
breast | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.781A>G; p.S261G; 17:7674182-7674182 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.403T>C; p.C135R; 17:7675209-7675209 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.569C>T; p.P190L; 17:7674962-7674962 |
liver | carcinoma | Substitution - Missense |
c.626G>C; p.R209T; 17:7674905-7674905 |
soft_tissue; striated_muscle | rhabdomyosarcoma; pleomorphic | Substitution - Missense |
c.538G>T; p.E180*; 17:7675074-7675074 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.428T>C; p.V143A; 17:7675184-7675184 |
pancreas | carcinoma | Substitution - Missense |
c.717C>T; p.N239N; 17:7674246-7674246 |
stomach | carcinoma | Substitution - coding silent |
c.569C>T; p.P190L; 17:7674962-7674962 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.538G>T; p.E180*; 17:7675074-7675074 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.712T>C; p.C238R; 17:7674251-7674251 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.428T>C; p.V143A; 17:7675184-7675184 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.433_439delCTGTGGG; p.W146fs*22; 17:7675173-7675179 |
breast | carcinoma | Deletion - Frameshift |
c.376_389del14; p.Y126fs*18; 17:7675223-7675236 |
breast | carcinoma | Deletion - Frameshift |
c.569C>T; p.P190L; 17:7674962-7674962 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.673-19G>A; p.?; 17:7674309-7674309 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.403T>C; p.C135R; 17:7675209-7675209 |
skin | malignant_melanoma | Substitution - Missense |
c.569C>T; p.P190L; 17:7674962-7674962 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.712T>C; p.C238R; 17:7674251-7674251 |
ovary | carcinoma | Substitution - Missense |
c.569C>T; p.P190L; 17:7674962-7674962 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>C; p.Y220S; 17:7674872-7674872 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.569C>T; p.P190L; 17:7674962-7674962 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.538G>T; p.E180*; 17:7675074-7675074 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.538G>T; p.E180*; 17:7675074-7675074 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.265C>T; p.P89S; 17:7676104-7676104 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.403T>C; p.C135R; 17:7675209-7675209 |
breast | carcinoma | Substitution - Missense |
c.850delA; p.T284fs*61; 17:7673770-7673770 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.428T>C; p.V143A; 17:7675184-7675184 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.428T>C; p.V143A; 17:7675184-7675184 |
oesophagus | carcinoma | Substitution - Missense |
c.622_625delGACA; p.D208fs*38; 17:7674906-7674909 |
lung | carcinoma; large_cell_carcinoma | Deletion - Frameshift |
c.389_425del37; p.N131fs*27; 17:7675187-7675223 |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma | Deletion - Frameshift |
c.712T>C; p.C238R; 17:7674251-7674251 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.428T>C; p.V143A; 17:7675184-7675184 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>C; p.Y220S; 17:7674872-7674872 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.659A>C; p.Y220S; 17:7674872-7674872 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.625A>G; p.R209G; 17:7674906-7674906 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.569C>T; p.P190L; 17:7674962-7674962 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.712T>C; p.C238R; 17:7674251-7674251 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.388_390delCTC; p.L130delL; 17:7675222-7675224 |
stomach | carcinoma; diffuse_adenocarcinoma | Deletion - In frame |
c.538G>T; p.E180*; 17:7675074-7675074 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.712T>C; p.C238R; 17:7674251-7674251 |
small_intestine; ileum | carcinoma; adenocarcinoma | Substitution - Missense |
c.569C>T; p.P190L; 17:7674962-7674962 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.626G>C; p.R209T; 17:7674905-7674905 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.712T>C; p.C238R; 17:7674251-7674251 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.625A>G; p.R209G; 17:7674906-7674906 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.28G>A; p.V10I; 17:7676567-7676567 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.304delA; p.T102fs*21; 17:7676065-7676065 |
breast | carcinoma | Deletion - Frameshift |
c.569C>T; p.P190L; 17:7674962-7674962 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.460_461GG>AT; p.G154I; 17:7675151-7675152 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.403T>C; p.C135R; 17:7675209-7675209 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>C; p.Y220S; 17:7674872-7674872 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1005T>C; p.R335R; 17:7670704-7670704 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.428T>C; p.V143A; 17:7675184-7675184 |
lung; lower_lobe | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.569C>T; p.P190L; 17:7674962-7674962 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.28G>A; p.V10I; 17:7676567-7676567 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.98_99insT; p.P36fs*7; 17:7676270-7676271 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.373A>G; p.T125A; 17:7675996-7675996 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.783-1_792delGTGGTAATCTA; p.?; 17:7673828-7673828 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.428T>C; p.V143A; 17:7675184-7675184 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.569C>T; p.P190L; 17:7674962-7674962 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.538G>T; p.E180*; 17:7675074-7675074 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.659A>C; p.Y220S; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.403T>C; p.C135R; 17:7675209-7675209 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.569C>T; p.P190L; 17:7674962-7674962 |
skin; face | in_situ_epithelial_neoplasm | Substitution - Missense |
c.569C>T; p.P190L; 17:7674962-7674962 |
skin; leg | other; keratosis | Substitution - Missense |
c.428T>C; p.V143A; 17:7675184-7675184 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.538G>T; p.E180*; 17:7675074-7675074 |
large_intestine; rectum | carcinoma | Substitution - Nonsense |
c.375+1delG; p.?; 17:7675993-7675993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.375+18G>A; p.?; 17:7675976-7675976 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Unknown |
c.428T>C; p.V143A; 17:7675184-7675184 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.753C>G; p.I251M; 17:7674210-7674210 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.712T>C; p.C238R; 17:7674251-7674251 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.373A>G; p.T125A; 17:7675996-7675996 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.837G>T; p.G279G; 17:7673783-7673783 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.569C>T; p.P190L; 17:7674962-7674962 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.538G>T; p.E180*; 17:7675074-7675074 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.403T>C; p.C135R; 17:7675209-7675209 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.712T>C; p.C238R; 17:7674251-7674251 |
prostate | carcinoma | Substitution - Missense |
c.569C>T; p.P190L; 17:7674962-7674962 |
pancreas | carcinoma | Substitution - Missense |
c.403T>C; p.C135R; 17:7675209-7675209 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.460_461GG>AT; p.G154I; 17:7675151-7675152 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>C; p.Y220S; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.740delA; p.N247fs*98; 17:7674223-7674223 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - Frameshift |
c.538G>T; p.E180*; 17:7675074-7675074 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.712T>C; p.C238R; 17:7674251-7674251 |
upper_aerodigestive_tract; head_neck | carcinoma | Substitution - Missense |
c.403T>C; p.C135R; 17:7675209-7675209 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.403T>C; p.C135R; 17:7675209-7675209 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>C; p.Y220S; 17:7674872-7674872 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.538G>T; p.E180*; 17:7675074-7675074 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.569C>T; p.P190L; 17:7674962-7674962 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.633T>A; p.T211T; 17:7674898-7674898 |
soft_tissue; fibrous_tissue_and_uncertain_o | malignant_melanoma_of_soft_parts-clear_cell_sarcoma | Substitution - coding silent |
c.428T>C; p.V143A; 17:7675184-7675184 |
breast | other; neoplasm | Substitution - Missense |
c.712T>C; p.C238R; 17:7674251-7674251 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.569C>T; p.P190L; 17:7674962-7674962 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.569C>T; p.P190L; 17:7674962-7674962 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.569C>T; p.P190L; 17:7674962-7674962 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.538G>T; p.E180*; 17:7675074-7675074 |
prostate | carcinoma | Substitution - Nonsense |
c.569C>T; p.P190L; 17:7674962-7674962 |
haematopoietic_and_lymphoid_tissue; thyroid | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.569C>T; p.P190L; 17:7674962-7674962 |
prostate | carcinoma | Substitution - Missense |
c.538G>T; p.E180*; 17:7675074-7675074 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.659A>C; p.Y220S; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.659A>C; p.Y220S; 17:7674872-7674872 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.538G>T; p.E180*; 17:7675074-7675074 |
breast | carcinoma | Substitution - Nonsense |
c.569C>T; p.P190L; 17:7674962-7674962 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.403T>C; p.C135R; 17:7675209-7675209 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.538G>T; p.E180*; 17:7675074-7675074 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.673-18G>C; p.?; 17:7674308-7674308 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.712T>C; p.C238R; 17:7674251-7674251 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.265C>T; p.P89S; 17:7676104-7676104 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.712T>C; p.C238R; 17:7674251-7674251 |
oesophagus | carcinoma | Substitution - Missense |
c.428T>C; p.V143A; 17:7675184-7675184 |
stomach | carcinoma | Substitution - Missense |
c.428T>C; p.V143A; 17:7675184-7675184 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.428T>C; p.V143A; 17:7675184-7675184 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.375+18G>A; p.?; 17:7675976-7675976 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm | Unknown |
c.659A>C; p.Y220S; 17:7674872-7674872 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.403T>C; p.C135R; 17:7675209-7675209 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.375+18G>A; p.?; 17:7675976-7675976 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Unknown |
c.569C>T; p.P190L; 17:7674962-7674962 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.569C>T; p.P190L; 17:7674962-7674962 |
stomach | carcinoma | Substitution - Missense |
c.712T>C; p.C238R; 17:7674251-7674251 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.659A>C; p.Y220S; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.569C>T; p.P190L; 17:7674962-7674962 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.712T>C; p.C238R; 17:7674251-7674251 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.712T>C; p.C238R; 17:7674251-7674251 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.403T>C; p.C135R; 17:7675209-7675209 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.265C>T; p.P89S; 17:7676104-7676104 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.460_461GG>AT; p.G154I; 17:7675151-7675152 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.569C>T; p.P190L; 17:7674962-7674962 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.428T>C; p.V143A; 17:7675184-7675184 |
ovary | carcinoma | Substitution - Missense |
c.465_466insN; p.R156fs*25; 17:7675146-7675147 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Insertion - Frameshift |
c.569C>T; p.P190L; 17:7674962-7674962 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.569C>T; p.P190L; 17:7674962-7674962 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.781A>G; p.S261G; 17:7674182-7674182 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.574_575delCA; p.Q192fs*16; 17:7674956-7674957 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.569C>T; p.P190L; 17:7674962-7674962 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.569C>T; p.P190L; 17:7674962-7674962 |
liver | carcinoma | Substitution - Missense |
c.428T>C; p.V143A; 17:7675184-7675184 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>C; p.Y220S; 17:7674872-7674872 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Missense |
c.712T>C; p.C238R; 17:7674251-7674251 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | other; hepatoblastoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
pancreas | carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
breast | carcinoma | Substitution - Missense |
c.372C>A; p.C124*; 17:7675997-7675997 |
breast | carcinoma | Substitution - Nonsense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.693C>A; p.T231T; 17:7674270-7674270 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.469G>T; p.V157F; 17:7675143-7675143 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.401T>G; p.F134C; 17:7675211-7675211 |
breast | carcinoma | Substitution - Missense |
c.456_457insN; p.P153fs*28; 17:7675155-7675156 |
ovary | other; neoplasm | Insertion - Frameshift |
c.469G>T; p.V157F; 17:7675143-7675143 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
kidney | carcinoma; chromophobe_renal_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
oesophagus | carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.571_606>N; p.P191fs*6; 17:7674925-7674960 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Complex - frameshift |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.401T>G; p.F134C; 17:7675211-7675211 |
ovary | other; neoplasm | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
thymus | thymoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Missense |
c.960G>A; p.K320K; 17:7673568-7673568 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.469G>T; p.V157F; 17:7675143-7675143 |
breast | carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung; bronchus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
vulva | carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.401T>G; p.F134C; 17:7675211-7675211 |
breast | carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
breast | carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.456_457insN; p.P153fs*28; 17:7675155-7675156 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.538_539insN; p.E180fs*6; 17:7675073-7675074 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Insertion - Frameshift |
c.181G>A; p.D61N; 17:7676188-7676188 |
skin; arm | other; keratosis | Substitution - Missense |
c.401T>G; p.F134C; 17:7675211-7675211 |
ovary | carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
stomach | carcinoma | Substitution - Missense |
c.667C>T; p.P223S; 17:7674864-7674864 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | other; hepatoblastoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | other; hepatoblastoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.670G>A; p.E224K; 17:7674861-7674861 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.277C>G; p.L93V; 17:7676092-7676092 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.960G>A; p.K320K; 17:7673568-7673568 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.181G>A; p.D61N; 17:7676188-7676188 |
skin; arm | other; keratosis | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
endometrium | carcinoma | Substitution - Missense |
c.279_280delGT; p.S94fs*54; 17:7676089-7676090 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | carcinoma | Substitution - Missense |
c.254_255insC; p.A86fs*63; 17:7676114-7676115 |
breast | carcinoma | Insertion - Frameshift |
c.372C>A; p.C124*; 17:7675997-7675997 |
pancreas | carcinoma | Substitution - Nonsense |
c.415_420delAAGACC; p.K139_T140delKT; 17:7675192-7675197 |
NS | NS | Deletion - In frame |
c.469G>T; p.V157F; 17:7675143-7675143 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
breast | carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.657C>T; p.P219P; 17:7674874-7674874 |
soft_tissue; fat | liposarcoma | Substitution - coding silent |
c.657C>T; p.P219P; 17:7674874-7674874 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.670G>A; p.E224K; 17:7674861-7674861 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.607delG; p.V203fs*44; 17:7674924-7674924 |
lung | carcinoma | Deletion - Frameshift |
c.469G>T; p.V157F; 17:7675143-7675143 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
pancreas | carcinoma | Substitution - Missense |
c.401T>G; p.F134C; 17:7675211-7675211 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
ovary | carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.960G>A; p.K320K; 17:7673568-7673568 |
central_nervous_system; brain | glioma; astrocytoma_Grade_I | Substitution - coding silent |
c.469G>T; p.V157F; 17:7675143-7675143 |
soft_tissue; striated_muscle | rhabdomyosarcoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.670G>A; p.E224K; 17:7674861-7674861 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
bone | chondrosarcoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.783-57A>G; p.?; 17:7673894-7673894 |
skin | benign_melanocytic_nevus | Unknown |
c.693C>A; p.T231T; 17:7674270-7674270 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | carcinoma | Substitution - Missense |
c.673-17C>A; p.?; 17:7674307-7674307 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.401T>G; p.F134C; 17:7675211-7675211 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.401T>G; p.F134C; 17:7675211-7675211 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.181G>A; p.D61N; 17:7676188-7676188 |
skin; arm | other; keratosis | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.670G>A; p.E224K; 17:7674861-7674861 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; Hodgkin_lymphoma | Substitution - Missense |
c.372C>A; p.C124*; 17:7675997-7675997 |
ovary | other; neoplasm | Substitution - Nonsense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | other; hepatoblastoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.667C>T; p.P223S; 17:7674864-7674864 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
breast | carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | other; hepatoblastoma | Substitution - Missense |
c.520A>G; p.R174G; 17:7675092-7675092 |
prostate | carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
soft_tissue | sarcoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.670delG; p.E224fs*23; 17:7674861-7674861 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.672+2T>G; p.?; 17:7674857-7674857 |
oesophagus | carcinoma | Unknown |
c.607delG; p.V203fs*44; 17:7674924-7674924 |
breast | carcinoma | Deletion - Frameshift |
c.372C>A; p.C124*; 17:7675997-7675997 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.401T>G; p.F134C; 17:7675211-7675211 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
pancreas | carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
NS | carcinoma | Substitution - Missense |
c.401T>G; p.F134C; 17:7675211-7675211 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.181G>A; p.D61N; 17:7676188-7676188 |
salivary_gland; parotid | carcinoma; mucoepidermoid_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
stomach | carcinoma; undifferentiated_adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.693C>A; p.T231T; 17:7674270-7674270 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.469G>T; p.V157F; 17:7675143-7675143 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung; bronchus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.887A>G; p.H296R; 17:7673733-7673733 |
breast | carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.401T>G; p.F134C; 17:7675211-7675211 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
upper_aerodigestive_tract; head_neck | carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.456_457insN; p.P153fs*28; 17:7675155-7675156 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.469G>T; p.V157F; 17:7675143-7675143 |
breast | carcinoma | Substitution - Missense |
c.401T>G; p.F134C; 17:7675211-7675211 |
pancreas | carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | other; hepatoblastoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | other; hepatoblastoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.514_559del46; p.V173fs*59; 17:7675053-7675098 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.456_457insN; p.P153fs*28; 17:7675155-7675156 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.437G>C; p.W146S; 17:7675175-7675175 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.657C>T; p.P219P; 17:7674874-7674874 |
soft_tissue; fibrous_tissue_and_uncertain_o | synovial_sarcoma | Substitution - coding silent |
c.469G>T; p.V157F; 17:7675143-7675143 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.514_559del46; p.V173fs*59; 17:7675053-7675098 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.179C>G; p.P60R; 17:7676190-7676190 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.607_612GTGGAG>CTGGTG; p.V203_E204>LV; 17:7674919-7674924 |
lung | carcinoma; non_small_cell_carcinoma | Complex - compound substitution |
c.469G>T; p.V157F; 17:7675143-7675143 |
liver | other; hepatoblastoma | Substitution - Missense |
c.469G>T; p.V157F; 17:7675143-7675143 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.532C>T; p.H178Y; 17:7675080-7675080 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.532C>T; p.H178Y; 17:7675080-7675080 |
skin; head_neck | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.741C>A; p.N247K; 17:7674222-7674222 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469_476delGTCCGCGC; p.V157fs*21; 17:7675136-7675143 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.991C>T; p.Q331*; 17:7673537-7673537 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.742C>G; p.R248G; 17:7674221-7674221 |
soft_tissue; fibrous_tissue_and_uncertain_o | alveolar_soft_part_sarcoma | Substitution - Missense |
c.807C>A; p.S269R; 17:7673813-7673813 |
prostate | carcinoma | Substitution - Missense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.336_344delCTTCTTGCA; p.F113_H115delFLH; 17:7676025-7676033 |
breast | carcinoma | Deletion - In frame |
c.991C>T; p.Q331*; 17:7673537-7673537 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
skin | malignant_melanoma | Substitution - Nonsense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.560-1_560GG>AA; p.?; 17:7674971-7674972 |
eye; conjunctiva | carcinoma; squamous_cell_carcinoma | Unknown |
c.991C>T; p.Q331*; 17:7673537-7673537 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.560-1_560GG>AA; p.?; 17:7674971-7674972 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.865C>T; p.L289F; 17:7673755-7673755 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.835delG; p.R280fs*65; 17:7673785-7673785 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.615T>A; p.Y205*; 17:7674916-7674916 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.914A>G; p.K305R; 17:7673706-7673706 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.446_447CC>TT; p.S149F; 17:7675165-7675166 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.905G>A; p.G302E; 17:7673715-7673715 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>G; p.R248G; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.431A>T; p.Q144L; 17:7675181-7675181 |
haematopoietic_and_lymphoid_tissue; trachea | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
lung | carcinoma | Substitution - Nonsense |
c.1050C>G; p.L350L; 17:7670659-7670659 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.245delC; p.P82fs*41; 17:7676124-7676124 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.940_958del19; p.S314fs*25; 17:7673570-7673588 |
ovary | other; neoplasm | Deletion - Frameshift |
c.615T>A; p.Y205*; 17:7674916-7674916 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.510_511insN; p.E171fs*10; 17:7675101-7675102 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.991C>T; p.Q331*; 17:7673537-7673537 |
breast | carcinoma | Substitution - Nonsense |
c.987C>T; p.T329T; 17:7673541-7673541 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.991C>T; p.Q331*; 17:7673537-7673537 |
skin | malignant_melanoma | Substitution - Nonsense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
breast | carcinoma | Substitution - Nonsense |
c.431A>T; p.Q144L; 17:7675181-7675181 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>G; p.R248G; 17:7674221-7674221 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.251_252CC>TT; p.A84V; 17:7676117-7676118 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.835delG; p.R280fs*65; 17:7673785-7673785 |
lung | carcinoma | Deletion - Frameshift |
c.835delG; p.R280fs*65; 17:7673785-7673785 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.991C>T; p.Q331*; 17:7673537-7673537 |
breast | carcinoma | Substitution - Nonsense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.742C>G; p.R248G; 17:7674221-7674221 |
small_intestine; ileum | carcinoma; adenocarcinoma | Substitution - Missense |
c.396G>A; p.K132K; 17:7675216-7675216 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.991C>T; p.Q331*; 17:7673537-7673537 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.774A>C; p.E258D; 17:7674189-7674189 |
lung | carcinoma | Substitution - Missense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.672+32G>T; p.?; 17:7674827-7674827 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.431A>T; p.Q144L; 17:7675181-7675181 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.528_529insN; p.P177fs*4; 17:7675083-7675084 |
endometrium | carcinoma | Insertion - Frameshift |
c.991C>T; p.Q331*; 17:7673537-7673537 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.471C>T; p.V157V; 17:7675141-7675141 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.991C>T; p.Q331*; 17:7673537-7673537 |
large_intestine; rectum | carcinoma; neuroendocrine_carcinoma | Substitution - Nonsense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.698A>T; p.H233L; 17:7674265-7674265 |
breast | carcinoma | Substitution - Missense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.865C>T; p.L289F; 17:7673755-7673755 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; lymphomatoid_papulosis | Substitution - Missense |
c.412G>T; p.A138S; 17:7675200-7675200 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.481_482delGC; p.A161fs*19; 17:7675130-7675131 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.431A>T; p.Q144L; 17:7675181-7675181 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.905G>A; p.G302E; 17:7673715-7673715 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.532C>T; p.H178Y; 17:7675080-7675080 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>G; p.R248G; 17:7674221-7674221 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.742C>G; p.R248G; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.379_408del30; p.S127_Q136del10; 17:7675204-7675233 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - In frame |
c.431A>T; p.Q144L; 17:7675181-7675181 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.835delG; p.R280fs*65; 17:7673785-7673785 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.339_341delCTT; p.F113delF; 17:7676028-7676030 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Deletion - In frame |
c.339_341delCTT; p.F113delF; 17:7676028-7676030 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - In frame |
c.532C>T; p.H178Y; 17:7675080-7675080 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>G; p.R248G; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Nonsense |
c.742C>G; p.R248G; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
skin; arm | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Nonsense |
c.532C>T; p.H178Y; 17:7675080-7675080 |
ovary | carcinoma | Substitution - Missense |
c.741C>A; p.N247K; 17:7674222-7674222 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.471C>T; p.V157V; 17:7675141-7675141 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.167A>T; p.E56V; 17:7676202-7676202 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
skin; arm | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Nonsense |
c.698A>T; p.H233L; 17:7674265-7674265 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.431A>T; p.Q144L; 17:7675181-7675181 |
pancreas | carcinoma | Substitution - Missense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Nonsense |
c.865C>T; p.L289F; 17:7673755-7673755 |
breast | carcinoma | Substitution - Missense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.774A>C; p.E258D; 17:7674189-7674189 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.615T>A; p.Y205*; 17:7674916-7674916 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Nonsense |
c.914A>G; p.K305R; 17:7673706-7673706 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.532C>T; p.H178Y; 17:7675080-7675080 |
skin; head_neck | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
ovary | low_malignant_potential_(borderline)_tumour; serous | Substitution - Nonsense |
c.774A>C; p.E258D; 17:7674189-7674189 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.532C>T; p.H178Y; 17:7675080-7675080 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.905G>A; p.G302E; 17:7673715-7673715 |
large_intestine; appendix | carcinoid-endocrine_tumour | Substitution - Missense |
c.742C>G; p.R248G; 17:7674221-7674221 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.431A>T; p.Q144L; 17:7675181-7675181 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.431A>T; p.Q144L; 17:7675181-7675181 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
oesophagus | carcinoma | Substitution - Nonsense |
c.742C>G; p.R248G; 17:7674221-7674221 |
pancreas | carcinoma | Substitution - Missense |
c.742C>G; p.R248G; 17:7674221-7674221 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
large_intestine; rectum | other; ulcerative_colitis | Substitution - Nonsense |
c.742C>G; p.R248G; 17:7674221-7674221 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Nonsense |
c.431A>T; p.Q144L; 17:7675181-7675181 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>G; p.R248G; 17:7674221-7674221 |
ovary | carcinoma | Substitution - Missense |
c.742C>G; p.R248G; 17:7674221-7674221 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.991C>T; p.Q331*; 17:7673537-7673537 |
large_intestine; rectum | carcinoma; neuroendocrine_carcinoma | Substitution - Nonsense |
c.510_511insN; p.E171fs*10; 17:7675101-7675102 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Insertion - Frameshift |
c.991C>T; p.Q331*; 17:7673537-7673537 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.555_556insN; p.D186fs*23; 17:7675056-7675057 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Insertion - Frameshift |
c.455_459delCGCCC; p.P152fs*27; 17:7675153-7675157 |
central_nervous_system; thalamus | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.991C>T; p.Q331*; 17:7673537-7673537 |
breast | carcinoma | Substitution - Nonsense |
c.698A>T; p.H233L; 17:7674265-7674265 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.835delG; p.R280fs*65; 17:7673785-7673785 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.592G>T; p.E198*; 17:7674939-7674939 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.839G>T; p.R280I; 17:7673781-7673781 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.497C>G; p.S166*; 17:7675115-7675115 |
breast | carcinoma | Substitution - Nonsense |
c.592G>T; p.E198*; 17:7674939-7674939 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.112C>T; p.Q38*; 17:7676257-7676257 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.312G>C; p.Q104H; 17:7676057-7676057 |
adrenal_gland; adrenal_gland | adrenal_cortical_adenoma | Substitution - Missense |
c.839G>T; p.R280I; 17:7673781-7673781 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.497C>G; p.S166*; 17:7675115-7675115 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.592G>T; p.E198*; 17:7674939-7674939 |
lung | carcinoma | Substitution - Nonsense |
c.497C>G; p.S166*; 17:7675115-7675115 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.531C>T; p.P177P; 17:7675081-7675081 |
genital_tract; extragonadal | germ_cell_tumour; yolk_sac_tumour | Substitution - coding silent |
c.455_468del14; p.P152fs*24; 17:7675144-7675157 |
pancreas | carcinoma | Deletion - Frameshift |
c.702C>A; p.Y234*; 17:7674261-7674261 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.497C>G; p.S166*; 17:7675115-7675115 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.760_761AT>GA; p.I254D; 17:7674202-7674203 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; MALT_lymphoma | Substitution - Missense |
c.430_432CAG>AAA; p.Q144K; 17:7675180-7675182 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.592G>T; p.E198*; 17:7674939-7674939 |
breast | carcinoma | Substitution - Nonsense |
c.839G>T; p.R280I; 17:7673781-7673781 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.592G>T; p.E198*; 17:7674939-7674939 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.839G>T; p.R280I; 17:7673781-7673781 |
prostate | adenoma | Substitution - Missense |
c.702C>A; p.Y234*; 17:7674261-7674261 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.493_495delCAG; p.Q165delQ; 17:7675117-7675119 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.839G>T; p.R280I; 17:7673781-7673781 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.556_573del18; p.D186_P191delDGLAPP; 17:7674958-7675056 |
breast | carcinoma | Deletion - In frame |
c.531C>T; p.P177P; 17:7675081-7675081 |
genital_tract; extragonadal | germ_cell_tumour; seminoma | Substitution - coding silent |
c.778_779insN; p.S260fs*4; 17:7674184-7674185 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.592G>T; p.E198*; 17:7674939-7674939 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.592G>T; p.E198*; 17:7674939-7674939 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.814delG; p.V272fs*73; 17:7673806-7673806 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.479T>C; p.M160T; 17:7675133-7675133 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.847C>A; p.R283S; 17:7673773-7673773 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.131delT; p.M44fs*79; 17:7676238-7676238 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.592G>T; p.E198*; 17:7674939-7674939 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.827C>A; p.A276D; 17:7673793-7673793 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.592G>T; p.E198*; 17:7674939-7674939 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.455_468del14; p.P152fs*24; 17:7675144-7675157 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.112C>T; p.Q38*; 17:7676257-7676257 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.672+58C>T; p.?; 17:7674801-7674801 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Unknown |
c.760_761AT>GA; p.I254D; 17:7674202-7674203 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; MALT_lymphoma | Substitution - Missense |
c.839G>T; p.R280I; 17:7673781-7673781 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.839G>T; p.R280I; 17:7673781-7673781 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.592G>T; p.E198*; 17:7674939-7674939 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.859G>A; p.E287K; 17:7673761-7673761 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.497C>G; p.S166*; 17:7675115-7675115 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.531C>T; p.P177P; 17:7675081-7675081 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.827C>A; p.A276D; 17:7673793-7673793 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.592G>T; p.E198*; 17:7674939-7674939 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.859G>A; p.E287K; 17:7673761-7673761 |
stomach | carcinoma | Substitution - Missense |
c.592G>T; p.E198*; 17:7674939-7674939 |
breast | carcinoma | Substitution - Nonsense |
c.531C>T; p.P177P; 17:7675081-7675081 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - coding silent |
c.592G>T; p.E198*; 17:7674939-7674939 |
breast | carcinoma | Substitution - Nonsense |
c.469_481del13; p.V157fs*9; 17:7675131-7675143 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.517_554del38; p.V173fs*23; 17:7675058-7675095 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.497C>G; p.S166*; 17:7675115-7675115 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.827C>A; p.A276D; 17:7673793-7673793 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.814delG; p.V272fs*73; 17:7673806-7673806 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.592G>T; p.E198*; 17:7674939-7674939 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.240T>C; p.P80P; 17:7676129-7676129 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.592G>T; p.E198*; 17:7674939-7674939 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.592G>T; p.E198*; 17:7674939-7674939 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.839G>T; p.R280I; 17:7673781-7673781 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.839G>T; p.R280I; 17:7673781-7673781 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.592G>T; p.E198*; 17:7674939-7674939 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.827C>A; p.A276D; 17:7673793-7673793 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - Missense |
c.479T>C; p.M160T; 17:7675133-7675133 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.839G>T; p.R280I; 17:7673781-7673781 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.839G>T; p.R280I; 17:7673781-7673781 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.36_388del352; p.P13fs*18; 17:7675224-7676559 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.827C>A; p.A276D; 17:7673793-7673793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.497C>G; p.S166*; 17:7675115-7675115 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Nonsense |
c.827C>A; p.A276D; 17:7673793-7673793 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.988_993+4delCTTCAGGTAC; p.?; 17:7673531-7673540 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Unknown |
c.592G>T; p.E198*; 17:7674939-7674939 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.592G>T; p.E198*; 17:7674939-7674939 |
prostate | carcinoma | Substitution - Nonsense |
c.592G>T; p.E198*; 17:7674939-7674939 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.592G>T; p.E198*; 17:7674939-7674939 |
skin; arm | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Nonsense |
c.112C>T; p.Q38*; 17:7676257-7676257 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.839G>T; p.R280I; 17:7673781-7673781 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.548_549ins21; p.S183_D184insPPP*; 17:7675063-7675064 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Insertion - In frame |
c.859G>A; p.E287K; 17:7673761-7673761 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.419_420CC>TT; p.T140I; 17:7675192-7675193 |
eye; conjunctiva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.859G>A; p.E287K; 17:7673761-7673761 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.592G>T; p.E198*; 17:7674939-7674939 |
skin | malignant_melanoma | Substitution - Nonsense |
c.560-1delG; p.?; 17:7674972-7674972 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.592G>T; p.E198*; 17:7674939-7674939 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.497C>G; p.S166*; 17:7675115-7675115 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.702C>A; p.Y234*; 17:7674261-7674261 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.497C>G; p.S166*; 17:7675115-7675115 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.531C>T; p.P177P; 17:7675081-7675081 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - coding silent |
c.592G>T; p.E198*; 17:7674939-7674939 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.592G>T; p.E198*; 17:7674939-7674939 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.839G>T; p.R280I; 17:7673781-7673781 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.839G>T; p.R280I; 17:7673781-7673781 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.497C>G; p.S166*; 17:7675115-7675115 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.531C>T; p.P177P; 17:7675081-7675081 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.112C>T; p.Q38*; 17:7676257-7676257 |
prostate | carcinoma | Substitution - Nonsense |
c.592G>T; p.E198*; 17:7674939-7674939 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.531C>T; p.P177P; 17:7675081-7675081 |
stomach | other; metaplasia | Substitution - coding silent |
c.814delG; p.V272fs*73; 17:7673806-7673806 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.839G>T; p.R280I; 17:7673781-7673781 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.827C>A; p.A276D; 17:7673793-7673793 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.454_455insA; p.P152fs*29; 17:7675157-7675158 |
vulva | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.592G>T; p.E198*; 17:7674939-7674939 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.592G>T; p.E198*; 17:7674939-7674939 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.859G>A; p.E287K; 17:7673761-7673761 |
skin; arm | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.827C>A; p.A276D; 17:7673793-7673793 |
soft_tissue; fibrous_tissue_and_uncertain_o | synovial_sarcoma | Substitution - Missense |
c.361T>G; p.S121A; 17:7676008-7676008 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.497C>G; p.S166*; 17:7675115-7675115 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.827C>A; p.A276D; 17:7673793-7673793 |
breast | carcinoma | Substitution - Missense |
c.839G>T; p.R280I; 17:7673781-7673781 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.702C>A; p.Y234*; 17:7674261-7674261 |
skin; leg | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.859G>A; p.E287K; 17:7673761-7673761 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.497C>G; p.S166*; 17:7675115-7675115 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.839G>T; p.R280I; 17:7673781-7673781 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.592G>T; p.E198*; 17:7674939-7674939 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Nonsense |
c.352_353insA; p.T118fs*31; 17:7676016-7676017 |
lung | carcinoma; small_cell_carcinoma | Insertion - Frameshift |
c.592G>T; p.E198*; 17:7674939-7674939 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.827C>A; p.A276D; 17:7673793-7673793 |
central_nervous_system; thalamus | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
ovary | other; neoplasm | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
breast | carcinoma | Substitution - Nonsense |
c.760_764delATCAT; p.I254fs*8; 17:7674199-7674203 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.574C>T; p.Q192*; 17:7674957-7674957 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.149_188del40; p.E51fs*59; 17:7676181-7676220 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.97-2A>T; p.?; 17:7676274-7676274 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.797G>A; p.G266E; 17:7673823-7673823 |
pancreas | carcinoma | Substitution - Missense |
c.380C>T; p.S127F; 17:7675232-7675232 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
NS | malignant_melanoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
liver | other; hepatoblastoma | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
breast | carcinoma | Substitution - Missense |
c.1041delC; p.L348fs*22; 17:7670668-7670668 |
breast | carcinoma; ER-PR-positive_carcinoma | Deletion - Frameshift |
c.797G>A; p.G266E; 17:7673823-7673823 |
endometrium | carcinoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
oesophagus | carcinoma | Substitution - Missense |
c.380C>T; p.S127F; 17:7675232-7675232 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.540G>C; p.E180D; 17:7675072-7675072 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.380C>T; p.S127F; 17:7675232-7675232 |
endometrium | carcinoma; clear_cell_carcinoma | Substitution - Missense |
c.380C>T; p.S127F; 17:7675232-7675232 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.327_328insTC; p.R110fs*14; 17:7676041-7676042 |
breast | carcinoma | Insertion - Frameshift |
c.574C>T; p.Q192*; 17:7674957-7674957 |
breast | carcinoma | Substitution - Nonsense |
c.97-2A>T; p.?; 17:7676274-7676274 |
lung | carcinoma; non_small_cell_carcinoma | Unknown |
c.380C>T; p.S127F; 17:7675232-7675232 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1028A>G; p.E343G; 17:7670681-7670681 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
breast | carcinoma | Substitution - Missense |
c.423C>T; p.C141C; 17:7675189-7675189 |
ovary | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - coding silent |
c.797G>A; p.G266E; 17:7673823-7673823 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
breast | carcinoma | Substitution - Nonsense |
c.380C>T; p.S127F; 17:7675232-7675232 |
skin; face | in_situ_epithelial_neoplasm | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.380C>T; p.S127F; 17:7675232-7675232 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
pancreas | carcinoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
breast | carcinoma | Substitution - Missense |
c.380C>T; p.S127F; 17:7675232-7675232 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
breast | carcinoma | Substitution - Nonsense |
c.97-2A>T; p.?; 17:7676274-7676274 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.574C>T; p.Q192*; 17:7674957-7674957 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.458C>T; p.P153L; 17:7675154-7675154 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.380C>T; p.S127F; 17:7675232-7675232 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
breast | carcinoma | Substitution - Missense |
c.380C>T; p.S127F; 17:7675232-7675232 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.380C>T; p.S127F; 17:7675232-7675232 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.380C>T; p.S127F; 17:7675232-7675232 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.500A>T; p.Q167L; 17:7675112-7675112 |
breast | carcinoma | Substitution - Missense |
c.500A>T; p.Q167L; 17:7675112-7675112 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.458C>T; p.P153L; 17:7675154-7675154 |
endometrium | carcinoma; adenocarcinoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.380C>T; p.S127F; 17:7675232-7675232 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.855_856GG>AA; p.E286K; 17:7673764-7673765 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
lung | carcinoma; carcinosarcoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.380C>T; p.S127F; 17:7675232-7675232 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
skin | malignant_melanoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
breast | carcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.97-2A>T; p.?; 17:7676274-7676274 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.458C>T; p.P153L; 17:7675154-7675154 |
large_intestine; appendix | carcinoma; adenocarcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.423C>T; p.C141C; 17:7675189-7675189 |
ovary | carcinoma | Substitution - coding silent |
c.376-3C>T; p.?; 17:7675239-7675239 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.380C>T; p.S127F; 17:7675232-7675232 |
skin; breast | malignant_melanoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
breast | carcinoma | Substitution - Nonsense |
c.380C>T; p.S127F; 17:7675232-7675232 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
skin; arm | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Nonsense |
c.97-2A>T; p.?; 17:7676274-7676274 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.380C>T; p.S127F; 17:7675232-7675232 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
skin | malignant_melanoma; nodular | Substitution - Missense |
c.376-3C>T; p.?; 17:7675239-7675239 |
prostate | carcinoma | Unknown |
c.574C>T; p.Q192*; 17:7674957-7674957 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.308_334del27; p.Y103_G112>C; 17:7676035-7676061 |
large_intestine; colon | carcinoma; adenocarcinoma | Complex - deletion inframe |
c.574C>T; p.Q192*; 17:7674957-7674957 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.97-2A>T; p.?; 17:7676274-7676274 |
liver | carcinoma | Unknown |
c.574C>T; p.Q192*; 17:7674957-7674957 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
breast | carcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
endometrium | carcinoma | Substitution - Nonsense |
c.375+1G>C; p.?; 17:7675993-7675993 |
central_nervous_system; brain | glioma | Unknown |
c.574C>T; p.Q192*; 17:7674957-7674957 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
lung | carcinoma; large_cell_carcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
cervix | carcinoma; endocervical_adenocarcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
ovary | other; neoplasm | Substitution - Nonsense |
c.97-2A>T; p.?; 17:7676274-7676274 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.797G>A; p.G266E; 17:7673823-7673823 |
thyroid | carcinoma; papillary_carcinoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.778T>C; p.S260P; 17:7674185-7674185 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
skin; ear | other; normal | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
pancreas | carcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
skin | in_situ_epithelial_neoplasm; Bowen_disease | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
oesophagus | carcinoma | Substitution - Missense |
c.380C>T; p.S127F; 17:7675232-7675232 |
small_intestine | other; hamartoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.612_613insNN; p.Y205fs*43; 17:7674918-7674919 |
breast | carcinoma | Insertion - Frameshift |
c.419C>A; p.T140N; 17:7675193-7675193 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.397A>C; p.M133L; 17:7675215-7675215 |
genital_tract; extragonadal | germ_cell_tumour; seminoma | Substitution - Missense |
c.380C>T; p.S127F; 17:7675232-7675232 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.712_738del27; p.C238_M246delCNSSCMGGM; 17:7674225-7674251 |
stomach | carcinoma; diffuse_adenocarcinoma | Deletion - In frame |
c.797G>A; p.G266E; 17:7673823-7673823 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
ovary | carcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
ovary | carcinoma; undifferentiated_carcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.380C>T; p.S127F; 17:7675232-7675232 |
ovary | carcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.458C>T; p.P153L; 17:7675154-7675154 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.380C>T; p.S127F; 17:7675232-7675232 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_II | Substitution - Missense |
c.380C>T; p.S127F; 17:7675232-7675232 |
ovary | carcinoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
genital_tract; extragonadal | germ_cell_tumour; seminoma | Substitution - Missense |
c.380C>T; p.S127F; 17:7675232-7675232 |
pancreas | carcinoma | Substitution - Missense |
c.458C>T; p.P153L; 17:7675154-7675154 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.457delC; p.G154fs*16; 17:7675155-7675155 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Deletion - Frameshift |
c.574C>T; p.Q192*; 17:7674957-7674957 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia | Substitution - Nonsense |
c.688_690delACC; p.T231delT; 17:7674273-7674275 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - In frame |
c.380C>T; p.S127F; 17:7675232-7675232 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
oesophagus | other; dysplasia | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.380C>T; p.S127F; 17:7675232-7675232 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1021_1022insGAGATGT; p.F341fs*1; 17:7670687-7670688 |
pleura | pulmonary_blastoma | Insertion - Frameshift |
c.574C>T; p.Q192*; 17:7674957-7674957 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.380C>T; p.S127F; 17:7675232-7675232 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.380C>T; p.S127F; 17:7675232-7675232 |
central_nervous_system; midbrain | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
oesophagus | carcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
stomach | carcinoma | Substitution - Nonsense |
c.147_148delTA; p.I50fs*1; 17:7676221-7676222 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.380C>T; p.S127F; 17:7675232-7675232 |
skin | malignant_melanoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
breast | carcinoma | Substitution - Nonsense |
c.608_609insN; p.E204fs*5; 17:7674922-7674923 |
breast | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.566C>G; p.A189G; 17:7674965-7674965 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
breast | carcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
thyroid | carcinoma | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ | Substitution - Missense |
c.380C>T; p.S127F; 17:7675232-7675232 |
small_intestine; ileum | carcinoma; adenocarcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
liver | carcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
breast | carcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.97_374del278; p.S33fs*23; 17:7675995-7676272 |
breast | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.797G>A; p.G266E; 17:7673823-7673823 |
breast | carcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
stomach | carcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.97-2A>T; p.?; 17:7676274-7676274 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.574C>T; p.Q192*; 17:7674957-7674957 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.475_501del27; p.A159_Q167delAMAIYKQSQ; 17:7675111-7675137 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - In frame |
c.423C>T; p.C141C; 17:7675189-7675189 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - coding silent |
c.797_814del18; p.G266_E271delGRNSFE; 17:7673806-7673823 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - In frame |
c.797G>A; p.G266E; 17:7673823-7673823 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.380C>T; p.S127F; 17:7675232-7675232 |
skin; back | malignant_melanoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.500A>T; p.Q167L; 17:7675112-7675112 |
breast | carcinoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.782+46G>A; p.?; 17:7674135-7674135 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Unknown |
c.574C>T; p.Q192*; 17:7674957-7674957 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Nonsense |
c.380C>T; p.S127F; 17:7675232-7675232 |
pancreas | carcinoma | Substitution - Missense |
c.566C>G; p.A189G; 17:7674965-7674965 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.375+1G>C; p.?; 17:7675993-7675993 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.797G>A; p.G266E; 17:7673823-7673823 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.423C>T; p.C141C; 17:7675189-7675189 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.574C>T; p.Q192*; 17:7674957-7674957 |
breast | carcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
breast | carcinoma | Substitution - Nonsense |
c.380C>T; p.S127F; 17:7675232-7675232 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.393C>G; p.N131K; 17:7675219-7675219 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
oesophagus | carcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
breast | carcinoma | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.458C>T; p.P153L; 17:7675154-7675154 |
breast | carcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.380C>T; p.S127F; 17:7675232-7675232 |
bone; pelvis | chondrosarcoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
liver | carcinoma | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
breast | carcinoma | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.97-2A>T; p.?; 17:7676274-7676274 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.797G>A; p.G266E; 17:7673823-7673823 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.380C>T; p.S127F; 17:7675232-7675232 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
cervix | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
prostate | adenoma | Substitution - Missense |
c.688_690delACC; p.T231delT; 17:7674273-7674275 |
lung | carcinoma; adenocarcinoma | Deletion - In frame |
c.574C>T; p.Q192*; 17:7674957-7674957 |
pancreas | carcinoma | Substitution - Nonsense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
ovary | carcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
lung | carcinoma; large_cell_carcinoma | Substitution - Nonsense |
c.380C>T; p.S127F; 17:7675232-7675232 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.797G>A; p.G266E; 17:7673823-7673823 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.380C>T; p.S127F; 17:7675232-7675232 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
eye; conjunctiva | other; pingueculum | Substitution - Nonsense |
c.797G>A; p.G266E; 17:7673823-7673823 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.380C>T; p.S127F; 17:7675232-7675232 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.574C>T; p.Q192*; 17:7674957-7674957 |
skin | malignant_melanoma | Substitution - Nonsense |
c.380C>T; p.S127F; 17:7675232-7675232 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.902delC; p.P301fs*44; 17:7673718-7673718 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.454_466del13; p.P152fs*14; 17:7675146-7675158 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
penis | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.894delG; p.E298fs*47; 17:7673726-7673726 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.412G>A; p.A138T; 17:7675200-7675200 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
salivary_gland | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.643A>C; p.S215R; 17:7674888-7674888 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.556delG; p.D186fs*61; 17:7675056-7675056 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.526_528delTGC; p.C176delC; 17:7675084-7675086 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.585_586CC>TT; p.R196*; 17:7674945-7674946 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.481delG; p.A161fs*9; 17:7675131-7675131 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | other; dysplasia | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | other; neoplasm | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
skin | malignant_melanoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.585_586CC>TT; p.R196*; 17:7674945-7674946 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.585_586CC>TT; p.R196*; 17:7674945-7674946 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Nonsense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; spindle_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.453_454insN; p.P152fs*29; 17:7675158-7675159 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Insertion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
prostate | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
kidney | Wilms_tumour | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.643A>C; p.S215R; 17:7674888-7674888 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_III | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
liver | other; normal | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.453_454insN; p.P152fs*29; 17:7675158-7675159 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
cervix | carcinoma; endocervical_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma | Substitution - Missense |
c.777C>A; p.D259E; 17:7674186-7674186 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; medulla | primitive_neuroectodermal_tumour-medulloblastoma; desmoplastic | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; gliosarcoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | other; metaplasia | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
kidney | Wilms_tumour | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.523C>A; p.R175S; 17:7675089-7675089 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.517_532del16; p.V173fs*69; 17:7675080-7675095 |
breast | carcinoma | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.610_611delGA; p.E204fs*4; 17:7674920-7674921 |
oesophagus | other; Barrett_oesophagus | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma | Substitution - Missense |
c.586delC; p.R196fs*51; 17:7674945-7674945 |
breast | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.412G>A; p.A138T; 17:7675200-7675200 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.777C>A; p.D259E; 17:7674186-7674186 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.421T>G; p.C141G; 17:7675191-7675191 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; head_neck | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
endometrium | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.902delC; p.P301fs*44; 17:7673718-7673718 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.556delG; p.D186fs*61; 17:7675056-7675056 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.501G>C; p.Q167H; 17:7675111-7675111 |
salivary_gland; parotid | carcinoma; mucoepidermoid_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.523C>A; p.R175S; 17:7675089-7675089 |
salivary_gland; major | carcinoma; ex-pleomorphic_adenoma_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; temporal_lobe | glioma; astrocytoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.586delC; p.R196fs*51; 17:7674945-7674945 |
breast | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.523C>A; p.R175S; 17:7675089-7675089 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.902delC; p.P301fs*44; 17:7673718-7673718 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.902delC; p.P301fs*44; 17:7673718-7673718 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.523C>A; p.R175S; 17:7675089-7675089 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; undifferentiated_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.421T>G; p.C141G; 17:7675191-7675191 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
bone | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
cervix | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.560-22A>G; p.?; 17:7674993-7674993 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_IV | Unknown |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.454_466del13; p.P152fs*14; 17:7675146-7675158 |
breast | carcinoma | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | other; neoplasm | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | other; neoplasm | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.586delC; p.R196fs*51; 17:7674945-7674945 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; undifferentiated_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.585_586CC>TT; p.R196*; 17:7674945-7674946 |
skin; head_neck | carcinoma; basal_cell_carcinoma | Substitution - Nonsense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; anaplastic_large_cell_lymphoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma | Substitution - Missense |
c.624C>A; p.D208E; 17:7674907-7674907 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
skin | malignant_melanoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.523C>A; p.R175S; 17:7675089-7675089 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; temporooccipital | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_III | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | sex_cord-stromal_tumour; granulosa_cell_tumour | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
prostate | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.848_877del30; p.T284_G293del10; 17:7673743-7673772 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.481delG; p.A161fs*9; 17:7675131-7675131 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
bone | osteosarcoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.411_412insN; p.A138fs*11; 17:7675200-7675201 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.556delG; p.D186fs*61; 17:7675056-7675056 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
skin | malignant_melanoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.273_274insN; p.P92fs*57; 17:7676095-7676096 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Insertion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.984C>T; p.F328F; 17:7673544-7673544 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - coding silent |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.412G>A; p.A138T; 17:7675200-7675200 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | other; neoplasm | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.373A>C; p.T125P; 17:7675996-7675996 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.586delC; p.R196fs*51; 17:7674945-7674945 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Missense |
c.585_586CC>TT; p.R196*; 17:7674945-7674946 |
eye; conjunctiva | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; parietal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.405_406insNNN; p.C135_Q136insX; 17:7675206-7675207 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Insertion - In frame |
c.524G>A; p.R175H; 17:7675088-7675088 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; pharynx | carcinoma; poorly_differentiated_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
salivary_gland | carcinoma; acinic_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.411_412insN; p.A138fs*11; 17:7675200-7675201 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.585_586CC>TT; p.R196*; 17:7674945-7674946 |
skin; arm | other; normal | Substitution - Nonsense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | adenoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.454_466del13; p.P152fs*14; 17:7675146-7675158 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
bone | osteosarcoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.624C>A; p.D208E; 17:7674907-7674907 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | adenoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; papillary_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.481delG; p.A161fs*9; 17:7675131-7675131 |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.649_651delGTG; p.V218delV; 17:7674880-7674882 |
breast | other; neoplasm | Deletion - In frame |
c.924_928delGCCCA; p.P309fs*26; 17:7673600-7673604 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.630C>G; p.N210K; 17:7674901-7674901 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.586_587delCG; p.R196fs*12; 17:7674944-7674945 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | other; normal | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.812A>G; p.E271G; 17:7673808-7673808 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.533A>T; p.H178L; 17:7675079-7675079 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.411_412insN; p.A138fs*11; 17:7675200-7675201 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
prostate | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.453_454insN; p.P152fs*29; 17:7675158-7675159 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.412G>A; p.A138T; 17:7675200-7675200 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.777C>A; p.D259E; 17:7674186-7674186 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.453_454insN; p.P152fs*29; 17:7675158-7675159 |
skin; leg | in_situ_epithelial_neoplasm; Bowen_disease | Insertion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.373A>C; p.T125P; 17:7675996-7675996 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_myelodysplastic_syndrome_therapy_related_NOS | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.523C>A; p.R175S; 17:7675089-7675089 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma | Substitution - Missense |
c.412G>A; p.A138T; 17:7675200-7675200 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.585_586CC>TT; p.R196*; 17:7674945-7674946 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
lung; right_middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.928_930AAC>TTG; p.N310L; 17:7673598-7673600 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.454_466del13; p.P152fs*14; 17:7675146-7675158 |
breast | carcinoma | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; head_neck | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.421T>G; p.C141G; 17:7675191-7675191 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
liver | other; normal | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; thalamus | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | other; dysplasia | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | other; dysplasia | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.373A>C; p.T125P; 17:7675996-7675996 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | serrated_polyp; serrated_adenoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.812A>G; p.E271G; 17:7673808-7673808 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.586delC; p.R196fs*51; 17:7674945-7674945 |
large_intestine; rectum | carcinoma | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; ureter | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; large_cell | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.643A>C; p.S215R; 17:7674888-7674888 |
ovary | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.812A>G; p.E271G; 17:7673808-7673808 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma; mucinous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | other; neoplasm | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.454_466del13; p.P152fs*14; 17:7675146-7675158 |
soft_tissue | small_round_cell_tumour | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.652delG; p.V218fs*29; 17:7674879-7674879 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.586delC; p.R196fs*51; 17:7674945-7674945 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; classic | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; frontal_lobe | glioma; astrocytoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.586delC; p.R196fs*51; 17:7674945-7674945 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Deletion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.453_454insN; p.P152fs*29; 17:7675158-7675159 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.523C>A; p.R175S; 17:7675089-7675089 |
genital_tract; extragonadal | germ_cell_tumour; mixed | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma | Substitution - Missense |
c.523C>A; p.R175S; 17:7675089-7675089 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
ovary | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
pancreas | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
central_nervous_system; brain | glioma; oligoastrocytoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.524G>A; p.R175H; 17:7675088-7675088 |
breast | carcinoma | Substitution - Missense |
c.673-1G>T; p.?; 17:7674291-7674291 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.673delG; p.V225fs*22; 17:7674290-7674290 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.325_330delTTCCGT; p.F109_R110delFR; 17:7676039-7676044 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.442delG; p.D148fs*22; 17:7675170-7675170 |
urinary_tract | carcinoma | Deletion - Frameshift |
c.655C>T; p.P219S; 17:7674876-7674876 |
upper_aerodigestive_tract; tonsil | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.556G>A; p.D186N; 17:7675056-7675056 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.849C>G; p.R283R; 17:7673771-7673771 |
breast | carcinoma | Substitution - coding silent |
c.893A>T; p.E298V; 17:7673727-7673727 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.655C>T; p.P219S; 17:7674876-7674876 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Missense |
c.673-1G>T; p.?; 17:7674291-7674291 |
breast | carcinoma | Unknown |
c.601T>C; p.L201L; 17:7674930-7674930 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.422G>C; p.C141S; 17:7675190-7675190 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.442delG; p.D148fs*22; 17:7675170-7675170 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.655C>T; p.P219S; 17:7674876-7674876 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.673-1G>T; p.?; 17:7674291-7674291 |
lung | carcinoma; adenocarcinoma | Unknown |
c.936_937insN; p.S313fs*24; 17:7673591-7673592 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.708_709delCA; p.M237fs*2; 17:7674254-7674255 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.983_984insA; p.F328fs*9; 17:7673544-7673545 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.893A>T; p.E298V; 17:7673727-7673727 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.673-1G>T; p.?; 17:7674291-7674291 |
pancreas | carcinoma | Unknown |
c.729G>A; p.M243I; 17:7674234-7674234 |
breast | carcinoma | Substitution - Missense |
c.673-1G>T; p.?; 17:7674291-7674291 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.936_937insN; p.S313fs*24; 17:7673591-7673592 |
prostate | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.983_984insA; p.F328fs*9; 17:7673544-7673545 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.556G>A; p.D186N; 17:7675056-7675056 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.565delG; p.A189fs*58; 17:7674966-7674966 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.729G>A; p.M243I; 17:7674234-7674234 |
breast | carcinoma | Substitution - Missense |
c.879_880delGG; p.E294fs*11; 17:7673740-7673741 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.729G>A; p.M243I; 17:7674234-7674234 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.921A>G; p.A307A; 17:7673607-7673607 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.729G>A; p.M243I; 17:7674234-7674234 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.685_687TGT>TA; p.C229fs*1; 17:7674276-7674278 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Complex - frameshift |
c.556G>A; p.D186N; 17:7675056-7675056 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.702_703insN; p.N235fs*5; 17:7674260-7674261 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Insertion - Frameshift |
c.174delA; p.G59fs*64; 17:7676195-7676195 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.655C>T; p.P219S; 17:7674876-7674876 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.556G>A; p.D186N; 17:7675056-7675056 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1034A>T; p.N345I; 17:7670675-7670675 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Substitution - Missense |
c.711_712insNNN; p.M237_C238insX; 17:7674251-7674252 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - In frame |
c.1001G>C; p.G334A; 17:7670708-7670708 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.556G>A; p.D186N; 17:7675056-7675056 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.729G>A; p.M243I; 17:7674234-7674234 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.702_703insN; p.N235fs*5; 17:7674260-7674261 |
cervix | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.426_458del33; p.V143_P153del; 17:7675154-7675186 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.825_826ins30; p.C275_A276ins10; 17:7673794-7673795 |
lung | carcinoma; small_cell_carcinoma | Insertion - In frame |
c.174delA; p.G59fs*64; 17:7676195-7676195 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.439G>T; p.V147F; 17:7675173-7675173 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.325_330delTTCCGT; p.F109_R110delFR; 17:7676039-7676044 |
breast | carcinoma; ductal_carcinoma | Deletion - In frame |
c.174delA; p.G59fs*64; 17:7676195-7676195 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.673-1G>T; p.?; 17:7674291-7674291 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.441_442insNN; p.D148fs*23; 17:7675170-7675171 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.601T>C; p.L201L; 17:7674930-7674930 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.302_307delAAACCT; p.K101_Y103>N; 17:7676062-7676067 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Complex - deletion inframe |
c.722C>T; p.S241F; 17:7674241-7674241 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.523C>T; p.R175C; 17:7675089-7675089 |
salivary_gland; major | carcinoma; mucoepidermoid_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1010G>T; p.R337L; 17:7670699-7670699 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.535delC; p.H179fs*68; 17:7675077-7675077 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Deletion - Frameshift |
c.722C>T; p.S241F; 17:7674241-7674241 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.523C>T; p.R175C; 17:7675089-7675089 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.842A>G; p.D281G; 17:7673778-7673778 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.523C>T; p.R175C; 17:7675089-7675089 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.523C>T; p.R175C; 17:7675089-7675089 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.258_280del23; p.P87fs*54; 17:7676089-7676111 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - Frameshift |
c.707A>G; p.Y236C; 17:7674256-7674256 |
ovary | carcinoma | Substitution - Missense |
c.523C>T; p.R175C; 17:7675089-7675089 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.672+2T>C; p.?; 17:7674857-7674857 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.707A>G; p.Y236C; 17:7674256-7674256 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.144C>T; p.D48D; 17:7676225-7676225 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.722C>T; p.S241F; 17:7674241-7674241 |
skin; trunk | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.1010G>T; p.R337L; 17:7670699-7670699 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
breast | carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
stomach | carcinoma; signet_ring_adenocarcinoma | Substitution - Missense |
c.523C>T; p.R175C; 17:7675089-7675089 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.842A>G; p.D281G; 17:7673778-7673778 |
stomach | adenocarcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
pancreas | carcinoid-endocrine_tumour; islet_cell | Substitution - Missense |
c.668C>A; p.P223H; 17:7674863-7674863 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
ovary | other; neoplasm | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1023delC; p.R342fs*3; 17:7670686-7670686 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.523C>T; p.R175C; 17:7675089-7675089 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
skin; arm | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.672+2T>C; p.?; 17:7674857-7674857 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.707A>G; p.Y236C; 17:7674256-7674256 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.523C>T; p.R175C; 17:7675089-7675089 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.842A>G; p.D281G; 17:7673778-7673778 |
ovary | carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
breast | carcinoma | Substitution - Missense |
c.217G>T; p.V73L; 17:7676152-7676152 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010G>T; p.R337L; 17:7670699-7670699 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
breast | carcinoma | Substitution - Missense |
c.933delC; p.N311fs*34; 17:7673595-7673595 |
ovary | carcinoma; undifferentiated_carcinoma | Deletion - Frameshift |
c.707A>G; p.Y236C; 17:7674256-7674256 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.842A>G; p.D281G; 17:7673778-7673778 |
breast | carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010G>T; p.R337L; 17:7670699-7670699 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.842A>G; p.D281G; 17:7673778-7673778 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.842A>G; p.D281G; 17:7673778-7673778 |
breast | carcinoma | Substitution - Missense |
c.672+2T>C; p.?; 17:7674857-7674857 |
large_intestine | carcinoma; adenocarcinoma | Unknown |
c.707A>G; p.Y236C; 17:7674256-7674256 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
skin; arm | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1010G>T; p.R337L; 17:7670699-7670699 |
liver | carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
pancreas | carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
ovary | carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
ovary | carcinoma | Substitution - Missense |
c.217G>T; p.V73L; 17:7676152-7676152 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.750_751ins21; p.P250_I251insXXXXXXX; 17:7674212-7674213 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Insertion - In frame |
c.707A>G; p.Y236C; 17:7674256-7674256 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.523C>T; p.R175C; 17:7675089-7675089 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
pancreas | carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010G>T; p.R337L; 17:7670699-7670699 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.523C>T; p.R175C; 17:7675089-7675089 |
cervix | carcinoma | Substitution - Missense |
c.523C>T; p.R175C; 17:7675089-7675089 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
central_nervous_system; thalamus | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
breast | carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.842A>G; p.D281G; 17:7673778-7673778 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.501G>A; p.Q167Q; 17:7675111-7675111 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.722C>T; p.S241F; 17:7674241-7674241 |
skin | malignant_melanoma | Substitution - Missense |
c.480_481insN; p.A161fs*20; 17:7675131-7675132 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.722C>T; p.S241F; 17:7674241-7674241 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.624_625insN; p.R209fs*7; 17:7674906-7674907 |
breast | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.722C>T; p.S241F; 17:7674241-7674241 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.790C>A; p.L264I; 17:7673830-7673830 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.842A>G; p.D281G; 17:7673778-7673778 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.672+2T>C; p.?; 17:7674857-7674857 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Unknown |
c.491A>G; p.K164R; 17:7675121-7675121 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.523C>T; p.R175C; 17:7675089-7675089 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010G>T; p.R337L; 17:7670699-7670699 |
liver | carcinoma | Substitution - Missense |
c.1010G>T; p.R337L; 17:7670699-7670699 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.760delA; p.I254fs*91; 17:7674203-7674203 |
prostate | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.707A>G; p.Y236C; 17:7674256-7674256 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
prostate | carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.501G>A; p.Q167Q; 17:7675111-7675111 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.722C>T; p.S241F; 17:7674241-7674241 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.434_435insNN; p.W146fs*25; 17:7675177-7675178 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Insertion - Frameshift |
c.672+2T>C; p.?; 17:7674857-7674857 |
lung | carcinoma; adenocarcinoma | Unknown |
c.523C>T; p.R175C; 17:7675089-7675089 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.987C>A; p.T329T; 17:7673541-7673541 |
skin; leg | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.722C>T; p.S241F; 17:7674241-7674241 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010G>T; p.R337L; 17:7670699-7670699 |
liver | carcinoma | Substitution - Missense |
c.1010G>T; p.R337L; 17:7670699-7670699 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1010G>T; p.R337L; 17:7670699-7670699 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010G>T; p.R337L; 17:7670699-7670699 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1010G>T; p.R337L; 17:7670699-7670699 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
stomach | carcinoma | Substitution - Missense |
c.1010G>T; p.R337L; 17:7670699-7670699 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.668C>A; p.P223H; 17:7674863-7674863 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; lymphomatoid_papulosis | Substitution - Missense |
c.1010G>T; p.R337L; 17:7670699-7670699 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
skin | malignant_melanoma | Substitution - Missense |
c.523C>T; p.R175C; 17:7675089-7675089 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.501G>A; p.Q167Q; 17:7675111-7675111 |
prostate | carcinoma | Substitution - coding silent |
c.707A>G; p.Y236C; 17:7674256-7674256 |
stomach | carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
lung | carcinoma | Substitution - Missense |
c.1010G>T; p.R337L; 17:7670699-7670699 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
ovary | other; neoplasm | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.842A>G; p.D281G; 17:7673778-7673778 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.672+2T>C; p.?; 17:7674857-7674857 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.707A>G; p.Y236C; 17:7674256-7674256 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.381C>T; p.S127S; 17:7675231-7675231 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.722C>T; p.S241F; 17:7674241-7674241 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1023delC; p.R342fs*3; 17:7670686-7670686 |
central_nervous_system; brain | glioma | Deletion - Frameshift |
c.722C>T; p.S241F; 17:7674241-7674241 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.523C>T; p.R175C; 17:7675089-7675089 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.523C>T; p.R175C; 17:7675089-7675089 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.414_415insNNNN; p.K139fs*11; 17:7675197-7675198 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Insertion - Frameshift |
c.523C>T; p.R175C; 17:7675089-7675089 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010G>T; p.R337L; 17:7670699-7670699 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.219G>A; p.V73V; 17:7676150-7676150 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.861G>T; p.E287D; 17:7673759-7673759 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
ovary | other; neoplasm | Substitution - Missense |
c.790C>A; p.L264I; 17:7673830-7673830 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010G>T; p.R337L; 17:7670699-7670699 |
breast | carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
breast | carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.842A>G; p.D281G; 17:7673778-7673778 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
ovary | other; neoplasm | Substitution - Missense |
c.1010G>T; p.R337L; 17:7670699-7670699 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
stomach | carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
breast | carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1010G>T; p.R337L; 17:7670699-7670699 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.523C>T; p.R175C; 17:7675089-7675089 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
skin | malignant_melanoma | Substitution - Missense |
c.849delC; p.T284fs*61; 17:7673771-7673771 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Deletion - Frameshift |
c.707A>G; p.Y236C; 17:7674256-7674256 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.707A>G; p.Y236C; 17:7674256-7674256 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1023delC; p.R342fs*3; 17:7670686-7670686 |
prostate | carcinoma | Deletion - Frameshift |
c.790C>A; p.L264I; 17:7673830-7673830 |
genital_tract; extragonadal | germ_cell_tumour; seminoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
skin | malignant_melanoma | Substitution - Missense |
c.756delC; p.T253fs*92; 17:7674207-7674207 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Deletion - Frameshift |
c.707A>G; p.Y236C; 17:7674256-7674256 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.230_231insA; p.A78fs*71; 17:7676138-7676139 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.523C>T; p.R175C; 17:7675089-7675089 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.672+2T>C; p.?; 17:7674857-7674857 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.672+2T>C; p.?; 17:7674857-7674857 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.722C>T; p.S241F; 17:7674241-7674241 |
skin; trunk | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.722C>T; p.S241F; 17:7674241-7674241 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.672+2T>C; p.?; 17:7674857-7674857 |
central_nervous_system; brain | glioma; astrocytoma | Unknown |
c.581T>G; p.L194R; 17:7674950-7674950 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
central_nervous_system; brain | glioma; oligodendroglioma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.676_684delGGCTCTGAC; p.G226_D228delGSD; 17:7674279-7674287 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.642_643delTA; p.H214fs*7; 17:7674888-7674889 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.314G>A; p.G105D; 17:7676055-7676055 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.948_949ins50; p.Q317fs*45; 17:7673579-7673580 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.314G>A; p.G105D; 17:7676055-7676055 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.768_769insN; p.L257fs*7; 17:7674194-7674195 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.516T>A; p.V172V; 17:7675096-7675096 |
stomach | carcinoma; signet_ring_adenocarcinoma | Substitution - coding silent |
c.836G>A; p.G279E; 17:7673784-7673784 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
liver | carcinoma | Substitution - Missense |
c.867C>T; p.L289L; 17:7673753-7673753 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.581T>G; p.L194R; 17:7674950-7674950 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.993G>A; p.Q331Q; 17:7673535-7673535 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.779C>T; p.S260F; 17:7674184-7674184 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.784G>C; p.G262R; 17:7673836-7673836 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
liver | carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.425C>T; p.P142L; 17:7675187-7675187 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.314G>A; p.G105D; 17:7676055-7676055 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
ovary | carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.425C>T; p.P142L; 17:7675187-7675187 |
skin; eye | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
skin; arm | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
breast | carcinoma | Substitution - Missense |
c.425C>T; p.P142L; 17:7675187-7675187 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.425C>T; p.P142L; 17:7675187-7675187 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
breast | carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.425C>T; p.P142L; 17:7675187-7675187 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.179C>T; p.P60L; 17:7676190-7676190 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
skin | malignant_melanoma | Substitution - Missense |
c.403delT; p.C135fs*35; 17:7675209-7675209 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.867C>T; p.L289L; 17:7673753-7673753 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.836G>A; p.G279E; 17:7673784-7673784 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
breast | carcinoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
breast | carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.642_643delTA; p.H214fs*7; 17:7674888-7674889 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.836G>A; p.G279E; 17:7673784-7673784 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
pancreas | carcinoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
central_nervous_system; thalamus | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.425C>T; p.P142L; 17:7675187-7675187 |
prostate | in_situ_neoplasm; glandular_intraepithelial_neoplasia_Grade_III | Substitution - Missense |
c.779C>T; p.S260F; 17:7674184-7674184 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
pancreas | carcinoma | Substitution - Missense |
c.414_421CAAGACCT>G; p.K139fs*29; 17:7675191-7675198 |
ovary | carcinoma; undifferentiated_carcinoma | Complex - frameshift |
c.688_702del15; p.T230_Y234delTTIHY; 17:7674261-7674275 |
breast | carcinoma; ductal_carcinoma | Deletion - In frame |
c.581T>G; p.L194R; 17:7674950-7674950 |
liver | carcinoma | Substitution - Missense |
c.867C>T; p.L289L; 17:7673753-7673753 |
soft_tissue; fibrous_tissue_and_uncertain_o | malignant_melanoma_of_soft_parts-clear_cell_sarcoma | Substitution - coding silent |
c.581T>G; p.L194R; 17:7674950-7674950 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; Hodgkin_lymphoma | Substitution - Missense |
c.372_373insN; p.T125fs*24; 17:7675996-7675997 |
breast | carcinoma; medullary_carcinoma | Insertion - Frameshift |
c.581T>G; p.L194R; 17:7674950-7674950 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.993G>A; p.Q331Q; 17:7673535-7673535 |
oesophagus | carcinoma | Substitution - coding silent |
c.836G>A; p.G279E; 17:7673784-7673784 |
breast | carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.673_681delGTTGGCTCT; p.V225_S227delVGS; 17:7674282-7674290 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Deletion - In frame |
c.403delT; p.C135fs*35; 17:7675209-7675209 |
oesophagus | carcinoma | Deletion - Frameshift |
c.836G>A; p.G279E; 17:7673784-7673784 |
liver | other; hepatoblastoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.403delT; p.C135fs*35; 17:7675209-7675209 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.836G>A; p.G279E; 17:7673784-7673784 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ | Substitution - Missense |
c.970_971GA>AG; p.D324S; 17:7673557-7673558 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.993G>A; p.Q331Q; 17:7673535-7673535 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.779C>T; p.S260F; 17:7674184-7674184 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
skin; trunk | other; normal | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.425C>T; p.P142L; 17:7675187-7675187 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.425C>T; p.P142L; 17:7675187-7675187 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.798A>T; p.G266G; 17:7673822-7673822 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.581T>G; p.L194R; 17:7674950-7674950 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.673_681delGTTGGCTCT; p.V225_S227delVGS; 17:7674282-7674290 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; classic | Deletion - In frame |
c.836G>A; p.G279E; 17:7673784-7673784 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.403delT; p.C135fs*35; 17:7675209-7675209 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.581T>G; p.L194R; 17:7674950-7674950 |
ovary | carcinoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
oesophagus | carcinoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
bone | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | Substitution - Missense |
c.403delT; p.C135fs*35; 17:7675209-7675209 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.581T>G; p.L194R; 17:7674950-7674950 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
ovary | carcinoma | Substitution - Missense |
c.642_643delTA; p.H214fs*7; 17:7674888-7674889 |
pleura | pulmonary_blastoma | Deletion - Frameshift |
c.836G>A; p.G279E; 17:7673784-7673784 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.993G>A; p.Q331Q; 17:7673535-7673535 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.836G>A; p.G279E; 17:7673784-7673784 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.403delT; p.C135fs*35; 17:7675209-7675209 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Deletion - Frameshift |
c.581T>G; p.L194R; 17:7674950-7674950 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.836G>A; p.G279E; 17:7673784-7673784 |
skin; trunk | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.581T>G; p.L194R; 17:7674950-7674950 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.576G>T; p.Q192H; 17:7674955-7674955 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.286_287delTC; p.S96fs*52; 17:7676082-7676083 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.455C>G; p.P152R; 17:7675157-7675157 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.478A>C; p.M160L; 17:7675134-7675134 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.529_537delCCCCACCAT; p.P177_H179delPHH; 17:7675075-7675083 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.809T>C; p.F270S; 17:7673811-7673811 |
breast | carcinoma | Substitution - Missense |
c.809T>C; p.F270S; 17:7673811-7673811 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.830G>A; p.C277Y; 17:7673790-7673790 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.365_366delTG; p.V122fs*26; 17:7676003-7676004 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.677G>A; p.G226D; 17:7674286-7674286 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.830G>A; p.C277Y; 17:7673790-7673790 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.247_248ins42; p.S96_V97ins14; 17:7676121-7676122 |
liver | carcinoma; hepatocellular_carcinoma | Insertion - In frame |
c.301A>T; p.K101*; 17:7676068-7676068 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.483_484insN; p.I162fs*19; 17:7675128-7675129 |
soft_tissue; fibrous_tissue_and_uncertain_o | malignant_melanoma_of_soft_parts-clear_cell_sarcoma | Insertion - Frameshift |
c.645T>G; p.S215R; 17:7674886-7674886 |
breast | carcinoma | Substitution - Missense |
c.455C>G; p.P152R; 17:7675157-7675157 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Substitution - Missense |
c.645T>G; p.S215R; 17:7674886-7674886 |
breast | carcinoma | Substitution - Missense |
c.809T>C; p.F270S; 17:7673811-7673811 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.645T>G; p.S215R; 17:7674886-7674886 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.810_819del10; p.F270fs*72; 17:7673801-7673810 |
breast | carcinoma | Deletion - Frameshift |
c.809T>A; p.F270Y; 17:7673811-7673811 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.830G>A; p.C277Y; 17:7673790-7673790 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Missense |
c.455C>G; p.P152R; 17:7675157-7675157 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.809T>C; p.F270S; 17:7673811-7673811 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.365_366delTG; p.V122fs*26; 17:7676003-7676004 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.576G>T; p.Q192H; 17:7674955-7674955 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.645T>G; p.S215R; 17:7674886-7674886 |
stomach | carcinoma | Substitution - Missense |
c.632C>G; p.T211S; 17:7674899-7674899 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.677G>A; p.G226D; 17:7674286-7674286 |
skin; arm | other; keratosis | Substitution - Missense |
c.809T>C; p.F270S; 17:7673811-7673811 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.412_429del18; p.A138_V143delAKTCPV; 17:7675183-7675200 |
ovary | carcinoma | Deletion - In frame |
c.830G>A; p.C277Y; 17:7673790-7673790 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.745_768del24; p.R249_T256delRPILTIIT; 17:7674195-7674218 |
skin | carcinoma; basal_cell_carcinoma | Deletion - In frame |
c.365_366delTG; p.V122fs*26; 17:7676003-7676004 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.809T>C; p.F270S; 17:7673811-7673811 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.673-154G>T; p.?; 17:7674444-7674444 |
lung | carcinoma; non_small_cell_carcinoma | Unknown |
c.576G>T; p.Q192H; 17:7674955-7674955 |
pancreas | carcinoma | Substitution - Missense |
c.455C>G; p.P152R; 17:7675157-7675157 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.455C>G; p.P152R; 17:7675157-7675157 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.809T>C; p.F270S; 17:7673811-7673811 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.809T>C; p.F270S; 17:7673811-7673811 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.830G>A; p.C277Y; 17:7673790-7673790 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.628delA; p.N210fs*37; 17:7674903-7674903 |
oesophagus | carcinoma | Deletion - Frameshift |
c.809T>C; p.F270S; 17:7673811-7673811 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.809T>A; p.F270Y; 17:7673811-7673811 |
oesophagus | carcinoma | Substitution - Missense |
c.645T>G; p.S215R; 17:7674886-7674886 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.365_366delTG; p.V122fs*26; 17:7676003-7676004 |
breast | carcinoma | Deletion - Frameshift |
c.628delA; p.N210fs*37; 17:7674903-7674903 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.830G>A; p.C277Y; 17:7673790-7673790 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.917_918insACTCCTT; p.A307fs*32; 17:7673702-7673703 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Insertion - Frameshift |
c.809T>A; p.F270Y; 17:7673811-7673811 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - Missense |
c.677G>A; p.G226D; 17:7674286-7674286 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.809T>C; p.F270S; 17:7673811-7673811 |
breast | carcinoma | Substitution - Missense |
c.478A>C; p.M160L; 17:7675134-7675134 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; MALT_lymphoma | Substitution - Missense |
c.830G>A; p.C277Y; 17:7673790-7673790 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.645T>G; p.S215R; 17:7674886-7674886 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.645T>G; p.S215R; 17:7674886-7674886 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.478A>C; p.M160L; 17:7675134-7675134 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; MALT_lymphoma | Substitution - Missense |
c.677G>A; p.G226D; 17:7674286-7674286 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.645T>G; p.S215R; 17:7674886-7674886 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.868_883del16; p.R290fs*50; 17:7673737-7673752 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.847_859del13; p.T284fs*57; 17:7673761-7673773 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.809T>A; p.F270Y; 17:7673811-7673811 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.645T>G; p.S215R; 17:7674886-7674886 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.809T>C; p.F270S; 17:7673811-7673811 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.365_366delTG; p.V122fs*26; 17:7676003-7676004 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.576G>T; p.Q192H; 17:7674955-7674955 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.830G>A; p.C277Y; 17:7673790-7673790 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Substitution - Missense |
c.830G>A; p.C277Y; 17:7673790-7673790 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.455C>G; p.P152R; 17:7675157-7675157 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.809T>C; p.F270S; 17:7673811-7673811 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.830G>A; p.C277Y; 17:7673790-7673790 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.830G>A; p.C277Y; 17:7673790-7673790 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.645T>G; p.S215R; 17:7674886-7674886 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.628delA; p.N210fs*37; 17:7674903-7674903 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.645T>G; p.S215R; 17:7674886-7674886 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.365_366delTG; p.V122fs*26; 17:7676003-7676004 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.121delG; p.D41fs*3; 17:7676248-7676248 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.867_873delCCGCAAG; p.R290fs*53; 17:7673747-7673753 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.301A>T; p.K101*; 17:7676068-7676068 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.513delG; p.V172fs*2; 17:7675099-7675099 |
skin | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.830G>A; p.C277Y; 17:7673790-7673790 |
breast | carcinoma | Substitution - Missense |
c.809T>C; p.F270S; 17:7673811-7673811 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.677G>A; p.G226D; 17:7674286-7674286 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.534_535CC>AT; p.H178_H179>QY; 17:7675077-7675078 |
skin; leg | carcinoma; squamous_cell_carcinoma | Complex - compound substitution |
c.365_366delTG; p.V122fs*26; 17:7676003-7676004 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.365_366delTG; p.V122fs*26; 17:7676003-7676004 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.809T>C; p.F270S; 17:7673811-7673811 |
breast | carcinoma | Substitution - Missense |
c.830G>A; p.C277Y; 17:7673790-7673790 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.830G>A; p.C277Y; 17:7673790-7673790 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.645T>G; p.S215R; 17:7674886-7674886 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.809T>A; p.F270Y; 17:7673811-7673811 |
salivary_gland; parotid | carcinoma | Substitution - Missense |
c.301A>T; p.K101*; 17:7676068-7676068 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.830G>A; p.C277Y; 17:7673790-7673790 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.645T>G; p.S215R; 17:7674886-7674886 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.498_499insN; p.Q167fs*14; 17:7675113-7675114 |
oesophagus | other; dysplasia | Insertion - Frameshift |
c.645T>G; p.S215R; 17:7674886-7674886 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.843_844CC>TT; p.R282W; 17:7673776-7673777 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.640delC; p.H214fs*33; 17:7674891-7674891 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.891_892ins17; p.E298fs*53; 17:7673728-7673729 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.509C>T; p.T170M; 17:7675103-7675103 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1032G>A; p.L344L; 17:7670677-7670677 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.782+1G>A; p.?; 17:7674180-7674180 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.509C>T; p.T170M; 17:7675103-7675103 |
skin; arm | other; keratosis | Substitution - Missense |
c.843_844CC>TT; p.R282W; 17:7673776-7673777 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.775delG; p.D259fs*86; 17:7674188-7674188 |
skin | carcinoma; basal_cell_carcinoma | Deletion - Frameshift |
c.481G>T; p.A161S; 17:7675131-7675131 |
liver | carcinoma | Substitution - Missense |
c.579T>C; p.H193H; 17:7674952-7674952 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; MALT_lymphoma | Substitution - coding silent |
c.559+25G>A; p.?; 17:7675028-7675028 |
stomach | carcinoma | Unknown |
c.478A>G; p.M160V; 17:7675134-7675134 |
breast | carcinoma | Substitution - Missense |
c.481G>T; p.A161S; 17:7675131-7675131 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.509C>T; p.T170M; 17:7675103-7675103 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.640delC; p.H214fs*33; 17:7674891-7674891 |
oesophagus | other; Barrett_oesophagus | Deletion - Frameshift |
c.509C>T; p.T170M; 17:7675103-7675103 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.413C>T; p.A138V; 17:7675199-7675199 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.864_871delTCTCCGCA; p.N288fs*15; 17:7673749-7673756 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.919+2delT; p.?; 17:7673699-7673699 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.413C>T; p.A138V; 17:7675199-7675199 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.782+1G>A; p.?; 17:7674180-7674180 |
liver | carcinoma | Unknown |
c.782+1G>A; p.?; 17:7674180-7674180 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.413C>T; p.A138V; 17:7675199-7675199 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.413C>T; p.A138V; 17:7675199-7675199 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.843_844CC>TT; p.R282W; 17:7673776-7673777 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.843_844CC>TT; p.R282W; 17:7673776-7673777 |
skin; arm | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.782+1G>A; p.?; 17:7674180-7674180 |
ovary | carcinoma; endometrioid_carcinoma | Unknown |
c.782+1G>A; p.?; 17:7674180-7674180 |
breast | carcinoma | Unknown |
c.801_802insG; p.N268fs*4; 17:7673818-7673819 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Insertion - Frameshift |
c.247_250delGCGG; p.A83fs*39; 17:7676119-7676122 |
breast | carcinoma | Deletion - Frameshift |
c.509C>T; p.T170M; 17:7675103-7675103 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.526_543del18; p.P177_C182delPHHERC; 17:7675069-7675086 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.782+1G>A; p.?; 17:7674180-7674180 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Unknown |
c.413C>T; p.A138V; 17:7675199-7675199 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.90C>G; p.N30K; 17:7676388-7676388 |
adrenal_gland; adrenal_gland | adrenal_cortical_adenoma; aldosterone_producing | Substitution - Missense |
c.328C>T; p.R110C; 17:7676041-7676041 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.513G>T; p.E171D; 17:7675099-7675099 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.645T>C; p.S215S; 17:7674886-7674886 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.801G>T; p.R267R; 17:7673819-7673819 |
breast | carcinoma | Substitution - coding silent |
c.843_844CC>TT; p.R282W; 17:7673776-7673777 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.631_655del25; p.T211fs*28; 17:7674876-7674900 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.801G>T; p.R267R; 17:7673819-7673819 |
liver | carcinoma | Substitution - coding silent |
c.413C>T; p.A138V; 17:7675199-7675199 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.328C>T; p.R110C; 17:7676041-7676041 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.509C>T; p.T170M; 17:7675103-7675103 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.413C>T; p.A138V; 17:7675199-7675199 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.843_844CC>TT; p.R282W; 17:7673776-7673777 |
skin; face | in_situ_epithelial_neoplasm | Substitution - Missense |
c.458C>A; p.P153H; 17:7675154-7675154 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.782+1G>A; p.?; 17:7674180-7674180 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.328C>T; p.R110C; 17:7676041-7676041 |
small_intestine; duodenum | carcinoma; adenocarcinoma | Substitution - Missense |
c.757A>G; p.T253A; 17:7674206-7674206 |
skin; head_neck | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.509C>T; p.T170M; 17:7675103-7675103 |
central_nervous_system; brainstem | glioma; astrocytoma | Substitution - Missense |
c.509C>T; p.T170M; 17:7675103-7675103 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.478A>G; p.M160V; 17:7675134-7675134 |
prostate | carcinoma | Substitution - Missense |
c.481G>T; p.A161S; 17:7675131-7675131 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.843_844CC>TT; p.R282W; 17:7673776-7673777 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.328C>T; p.R110C; 17:7676041-7676041 |
skin; face | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.413C>T; p.A138V; 17:7675199-7675199 |
endometrium | carcinoma | Substitution - Missense |
c.413C>T; p.A138V; 17:7675199-7675199 |
lung; upper_lobe | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.413C>T; p.A138V; 17:7675199-7675199 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.413C>T; p.A138V; 17:7675199-7675199 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.843_844CC>TT; p.R282W; 17:7673776-7673777 |
skin; arm | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.316A>G; p.S106G; 17:7676053-7676053 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.413C>T; p.A138V; 17:7675199-7675199 |
breast | carcinoma | Substitution - Missense |
c.645T>C; p.S215S; 17:7674886-7674886 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - coding silent |
c.782+1G>A; p.?; 17:7674180-7674180 |
large_intestine; rectum | carcinoma | Unknown |
c.413C>T; p.A138V; 17:7675199-7675199 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.324_325insACGGT; p.F109fs*16; 17:7676044-7676045 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.775delG; p.D259fs*86; 17:7674188-7674188 |
eye; conjunctiva | other; pterygium | Deletion - Frameshift |
c.478A>G; p.M160V; 17:7675134-7675134 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.328C>T; p.R110C; 17:7676041-7676041 |
prostate | carcinoma | Substitution - Missense |
c.843_844CC>TT; p.R282W; 17:7673776-7673777 |
skin; arm | other; normal | Substitution - Missense |
c.579T>C; p.H193H; 17:7674952-7674952 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; MALT_lymphoma | Substitution - coding silent |
c.757A>G; p.T253A; 17:7674206-7674206 |
kidney | carcinoma; chromophobe_renal_cell_carcinoma | Substitution - Missense |
c.413C>T; p.A138V; 17:7675199-7675199 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.782+1G>A; p.?; 17:7674180-7674180 |
breast | carcinoma | Unknown |
c.782+1G>A; p.?; 17:7674180-7674180 |
large_intestine; rectum | carcinoma; adenocarcinoma | Unknown |
c.757A>G; p.T253A; 17:7674206-7674206 |
breast | carcinoma | Substitution - Missense |
c.478A>G; p.M160V; 17:7675134-7675134 |
breast | carcinoma | Substitution - Missense |
c.782+1G>A; p.?; 17:7674180-7674180 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.413C>T; p.A138V; 17:7675199-7675199 |
stomach | other; metaplasia | Substitution - Missense |
c.748_756delCCCATCCTC; p.P250_L252delPIL; 17:7674207-7674215 |
stomach | carcinoma | Deletion - In frame |
c.328C>T; p.R110C; 17:7676041-7676041 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.413C>T; p.A138V; 17:7675199-7675199 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.775delG; p.D259fs*86; 17:7674188-7674188 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.843_844CC>TT; p.R282W; 17:7673776-7673777 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.782+1G>A; p.?; 17:7674180-7674180 |
stomach | carcinoma; diffuse_adenocarcinoma | Unknown |
c.413C>T; p.A138V; 17:7675199-7675199 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.843_844CC>TT; p.R282W; 17:7673776-7673777 |
skin; face | other; keratosis | Substitution - Missense |
c.619_648del30; p.D207_V216del10; 17:7674883-7674912 |
lung | carcinoma; large_cell_carcinoma | Deletion - In frame |
c.413C>T; p.A138V; 17:7675199-7675199 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.478A>G; p.M160V; 17:7675134-7675134 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.782+1G>A; p.?; 17:7674180-7674180 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.782+1G>A; p.?; 17:7674180-7674180 |
breast | carcinoma | Unknown |
c.413C>T; p.A138V; 17:7675199-7675199 |
breast | carcinoma | Substitution - Missense |
c.193_194insC; p.R65fs*84; 17:7676175-7676176 |
pancreas | carcinoma | Insertion - Frameshift |
c.413C>T; p.A138V; 17:7675199-7675199 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.526_543del18; p.P177_C182delPHHERC; 17:7675069-7675086 |
ovary | carcinoma; mucinous_carcinoma | Deletion - In frame |
c.748_756delCCCATCCTC; p.P250_L252delPIL; 17:7674207-7674215 |
stomach | carcinoma; adenocarcinoma | Deletion - In frame |
c.316A>G; p.S106G; 17:7676053-7676053 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.782+1G>A; p.?; 17:7674180-7674180 |
lung | carcinoma; adenocarcinoma | Unknown |
c.508A>C; p.T170P; 17:7675104-7675104 |
cervix | carcinoma | Substitution - Missense |
c.801G>T; p.R267R; 17:7673819-7673819 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.782+1G>A; p.?; 17:7674180-7674180 |
liver | carcinoma | Unknown |
c.413C>T; p.A138V; 17:7675199-7675199 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.526_543del18; p.P177_C182delPHHERC; 17:7675069-7675086 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.413C>T; p.A138V; 17:7675199-7675199 |
ovary | other; neoplasm | Substitution - Missense |
c.403T>A; p.C135S; 17:7675209-7675209 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.773A>G; p.E258G; 17:7674190-7674190 |
pancreas | carcinoma | Substitution - Missense |
c.773A>G; p.E258G; 17:7674190-7674190 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.843C>A; p.D281E; 17:7673777-7673777 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.440T>G; p.V147G; 17:7675172-7675172 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.697C>T; p.H233Y; 17:7674266-7674266 |
liver | other; hepatoblastoma | Substitution - Missense |
c.747G>C; p.R249S; 17:7674216-7674216 |
lung; upper_lobe | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.697C>T; p.H233Y; 17:7674266-7674266 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.752T>C; p.I251T; 17:7674211-7674211 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.872A>G; p.K291R; 17:7673748-7673748 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.872A>G; p.K291R; 17:7673748-7673748 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.752T>C; p.I251T; 17:7674211-7674211 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1129A>C; p.T377P; 17:7669662-7669662 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.747G>C; p.R249S; 17:7674216-7674216 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
stomach | adenocarcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
soft_tissue; fibrous_tissue_and_uncertain_o | solitary_fibrous_tumour; dedifferentiated | Substitution - Missense |
c.154_166del13; p.Q52fs*67; 17:7676203-7676215 |
endometrium | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Deletion - Frameshift |
c.747G>C; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.782+18A>T; p.?; 17:7674163-7674163 |
breast | carcinoma | Unknown |
c.473G>A; p.R158H; 17:7675139-7675139 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.707A>T; p.Y236F; 17:7674256-7674256 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.778delT; p.S260fs*85; 17:7674185-7674185 |
lung | carcinoma | Deletion - Frameshift |
c.473G>A; p.R158H; 17:7675139-7675139 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.130delA; p.M44fs*79; 17:7676239-7676239 |
breast | carcinoma | Deletion - Frameshift |
c.751A>T; p.I251F; 17:7674212-7674212 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
stomach | carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.391A>T; p.N131Y; 17:7675221-7675221 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.920-2A>C; p.?; 17:7673610-7673610 |
breast | carcinoma | Unknown |
c.473G>A; p.R158H; 17:7675139-7675139 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.457C>G; p.P153A; 17:7675155-7675155 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>C; p.R249S; 17:7674216-7674216 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.843C>A; p.D281E; 17:7673777-7673777 |
pancreas | carcinoma | Substitution - Missense |
c.751A>T; p.I251F; 17:7674212-7674212 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.403T>A; p.C135S; 17:7675209-7675209 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.440T>G; p.V147G; 17:7675172-7675172 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>C; p.R249S; 17:7674216-7674216 |
lung; upper_lobe | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.751A>T; p.I251F; 17:7674212-7674212 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.186A>G; p.E62E; 17:7676183-7676183 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.773A>G; p.E258G; 17:7674190-7674190 |
oesophagus | carcinoma | Substitution - Missense |
c.697C>T; p.H233Y; 17:7674266-7674266 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1123C>T; p.Q375*; 17:7669668-7669668 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.473G>A; p.R158H; 17:7675139-7675139 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>C; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.752T>C; p.I251T; 17:7674211-7674211 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.782+2T>G; p.?; 17:7674179-7674179 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Unknown |
c.440T>G; p.V147G; 17:7675172-7675172 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.642T>A; p.H214Q; 17:7674889-7674889 |
ovary | carcinoma | Substitution - Missense |
c.362C>T; p.S121F; 17:7676007-7676007 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.955A>G; p.K319E; 17:7673573-7673573 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.752T>C; p.I251T; 17:7674211-7674211 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.778delT; p.S260fs*85; 17:7674185-7674185 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.473G>A; p.R158H; 17:7675139-7675139 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.747G>C; p.R249S; 17:7674216-7674216 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.582T>A; p.L194L; 17:7674949-7674949 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.473G>A; p.R158H; 17:7675139-7675139 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.747G>C; p.R249S; 17:7674216-7674216 |
pancreas | carcinoma | Substitution - Missense |
c.843C>A; p.D281E; 17:7673777-7673777 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.440T>G; p.V147G; 17:7675172-7675172 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.113A>T; p.Q38L; 17:7676256-7676256 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.872A>G; p.K291R; 17:7673748-7673748 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.773A>G; p.E258G; 17:7674190-7674190 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.391A>T; p.N131Y; 17:7675221-7675221 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.751A>T; p.I251F; 17:7674212-7674212 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.440T>G; p.V147G; 17:7675172-7675172 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.773A>G; p.E258G; 17:7674190-7674190 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
prostate | in_situ_neoplasm; glandular_intraepithelial_neoplasia_Grade_III | Substitution - Missense |
c.186A>G; p.E62E; 17:7676183-7676183 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.256_268del13; p.A86fs*33; 17:7676101-7676113 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.473G>A; p.R158H; 17:7675139-7675139 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.497_498insC; p.Q167fs*14; 17:7675114-7675115 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Insertion - Frameshift |
c.473G>A; p.R158H; 17:7675139-7675139 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.232G>T; p.A78S; 17:7676137-7676137 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.773A>G; p.E258G; 17:7674190-7674190 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.747G>C; p.R249S; 17:7674216-7674216 |
stomach | carcinoma | Substitution - Missense |
c.130delA; p.M44fs*79; 17:7676239-7676239 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.334_335delGG; p.G112fs*36; 17:7676034-7676035 |
breast | carcinoma | Deletion - Frameshift |
c.914A>C; p.K305T; 17:7673706-7673706 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.440T>G; p.V147G; 17:7675172-7675172 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.751A>T; p.I251F; 17:7674212-7674212 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.843C>A; p.D281E; 17:7673777-7673777 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.403T>A; p.C135S; 17:7675209-7675209 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.773A>G; p.E258G; 17:7674190-7674190 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.566_574delCCCCTCCTC; p.A189_Q192>E; 17:7674957-7674965 |
breast | carcinoma | Complex - deletion inframe |
c.473G>A; p.R158H; 17:7675139-7675139 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1129A>C; p.T377P; 17:7669662-7669662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.440T>G; p.V147G; 17:7675172-7675172 |
breast | carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.794T>A; p.L265Q; 17:7673826-7673826 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.872A>G; p.K291R; 17:7673748-7673748 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.843C>A; p.D281E; 17:7673777-7673777 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.391A>T; p.N131Y; 17:7675221-7675221 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.811_812delGA; p.E271fs*34; 17:7673808-7673809 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.499_501delCAG; p.Q167delQ; 17:7675111-7675113 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.473G>A; p.R158H; 17:7675139-7675139 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
kidney | Wilms_tumour | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.747G>C; p.R249S; 17:7674216-7674216 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.747G>C; p.R249S; 17:7674216-7674216 |
skin; leg | other; keratosis | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.843C>A; p.D281E; 17:7673777-7673777 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.747G>C; p.R249S; 17:7674216-7674216 |
lung; lower_lobe | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.391A>T; p.N131Y; 17:7675221-7675221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Missense |
c.747G>C; p.R249S; 17:7674216-7674216 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.391A>T; p.N131Y; 17:7675221-7675221 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.747G>C; p.R249S; 17:7674216-7674216 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
upper_aerodigestive_tract; middle_ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>C; p.R249S; 17:7674216-7674216 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.376-3_376-2insN; p.?; 17:7675238-7675239 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.473G>A; p.R158H; 17:7675139-7675139 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.843C>A; p.D281E; 17:7673777-7673777 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.697C>T; p.H233Y; 17:7674266-7674266 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.697C>T; p.H233Y; 17:7674266-7674266 |
liver | other; hepatoblastoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
pancreas | carcinoma | Substitution - Missense |
c.751A>T; p.I251F; 17:7674212-7674212 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.782+11A>T; p.?; 17:7674170-7674170 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.573_574ins40; p.Q192fs*30; 17:7674957-7674958 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Insertion - Frameshift |
c.747G>C; p.R249S; 17:7674216-7674216 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.843C>A; p.D281E; 17:7673777-7673777 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.497_498insC; p.Q167fs*14; 17:7675114-7675115 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Insertion - Frameshift |
c.747G>C; p.R249S; 17:7674216-7674216 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.778delT; p.S260fs*85; 17:7674185-7674185 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.473G>A; p.R158H; 17:7675139-7675139 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.751A>T; p.I251F; 17:7674212-7674212 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
central_nervous_system; medulla | primitive_neuroectodermal_tumour-medulloblastoma; classic | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
central_nervous_system; thalamus | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.391A>T; p.N131Y; 17:7675221-7675221 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.497_498insC; p.Q167fs*14; 17:7675114-7675115 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Insertion - Frameshift |
c.473G>A; p.R158H; 17:7675139-7675139 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia | Substitution - Missense |
c.391A>T; p.N131Y; 17:7675221-7675221 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.440T>G; p.V147G; 17:7675172-7675172 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.782+2T>G; p.?; 17:7674179-7674179 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.473G>A; p.R158H; 17:7675139-7675139 |
prostate | carcinoma | Substitution - Missense |
c.186A>G; p.E62E; 17:7676183-7676183 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.752T>C; p.I251T; 17:7674211-7674211 |
stomach | carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
breast | carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.773A>G; p.E258G; 17:7674190-7674190 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.752T>C; p.I251T; 17:7674211-7674211 |
stomach | carcinoma | Substitution - Missense |
c.843C>A; p.D281E; 17:7673777-7673777 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>C; p.R249S; 17:7674216-7674216 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.751A>T; p.I251F; 17:7674212-7674212 |
oesophagus | carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.773A>G; p.E258G; 17:7674190-7674190 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.327_328insNNNNNN; p.F109_R110insXX; 17:7676041-7676042 |
breast | carcinoma | Insertion - In frame |
c.593A>G; p.E198G; 17:7674938-7674938 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>C; p.R249S; 17:7674216-7674216 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.843C>A; p.D281E; 17:7673777-7673777 |
breast | carcinoma | Substitution - Missense |
c.697C>T; p.H233Y; 17:7674266-7674266 |
lung; upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.582T>A; p.L194L; 17:7674949-7674949 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - coding silent |
c.1024_1035del12; p.R342_N345delRELN; 17:7670674-7670685 |
breast | carcinoma | Deletion - In frame |
c.473G>A; p.R158H; 17:7675139-7675139 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - Missense |
c.1123C>T; p.Q375*; 17:7669668-7669668 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.747G>C; p.R249S; 17:7674216-7674216 |
cervix | carcinoma; adenocarcinoma | Substitution - Missense |
c.403T>A; p.C135S; 17:7675209-7675209 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.747G>C; p.R249S; 17:7674216-7674216 |
lung; bronchus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.391A>T; p.N131Y; 17:7675221-7675221 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.559delG; p.G187fs*60; 17:7675053-7675053 |
breast | carcinoma | Deletion - Frameshift |
c.473G>A; p.R158H; 17:7675139-7675139 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.955A>G; p.K319E; 17:7673573-7673573 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.1123C>T; p.Q375*; 17:7669668-7669668 |
thyroid | carcinoma | Substitution - Nonsense |
c.473G>A; p.R158H; 17:7675139-7675139 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>C; p.R249S; 17:7674216-7674216 |
lung; upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.843C>A; p.D281E; 17:7673777-7673777 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.843C>A; p.D281E; 17:7673777-7673777 |
breast | carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Missense |
c.473G>A; p.R158H; 17:7675139-7675139 |
prostate | carcinoma | Substitution - Missense |
c.994-2A>G; p.?; 17:7670717-7670717 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm | Unknown |
c.919+1G>C; p.?; 17:7673700-7673700 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Unknown |
c.184G>T; p.E62*; 17:7676185-7676185 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.847C>T; p.R283C; 17:7673773-7673773 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.847C>T; p.R283C; 17:7673773-7673773 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.834_835ins15; p.P278_G279insXXXXX; 17:7673785-7673786 |
breast | carcinoma | Insertion - In frame |
c.822T>C; p.V274V; 17:7673798-7673798 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.184G>T; p.E62*; 17:7676185-7676185 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.492G>T; p.K164N; 17:7675120-7675120 |
breast | carcinoma | Substitution - Missense |
c.184G>T; p.E62*; 17:7676185-7676185 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.184G>T; p.E62*; 17:7676185-7676185 |
breast | carcinoma | Substitution - Nonsense |
c.994-2A>G; p.?; 17:7670717-7670717 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm | Unknown |
c.981T>G; p.Y327*; 17:7673547-7673547 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.847C>T; p.R283C; 17:7673773-7673773 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.434T>A; p.L145Q; 17:7675178-7675178 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.338T>C; p.F113S; 17:7676031-7676031 |
ovary | other; neoplasm | Substitution - Missense |
c.382delC; p.P128fs*42; 17:7675230-7675230 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.434T>A; p.L145Q; 17:7675178-7675178 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.847C>T; p.R283C; 17:7673773-7673773 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.763A>G; p.I255V; 17:7674200-7674200 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.981T>G; p.Y327*; 17:7673547-7673547 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.994-2A>G; p.?; 17:7670717-7670717 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.847C>T; p.R283C; 17:7673773-7673773 |
central_nervous_system; brain | glioma; ependymoma | Substitution - Missense |
c.919+1G>C; p.?; 17:7673700-7673700 |
oesophagus | carcinoma | Unknown |
c.919+1G>C; p.?; 17:7673700-7673700 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.478_481ATGG>NNN; p.M160fs*10; 17:7675131-7675134 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Complex - frameshift |
c.434T>A; p.L145Q; 17:7675178-7675178 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.954A>G; p.P318P; 17:7673574-7673574 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.517delG; p.V173fs*1; 17:7675095-7675095 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.567_568insN; p.P190fs*19; 17:7674963-7674964 |
lung | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.847C>T; p.R283C; 17:7673773-7673773 |
breast | carcinoma | Substitution - Missense |
c.434T>A; p.L145Q; 17:7675178-7675178 |
breast | carcinoma | Substitution - Missense |
c.847C>T; p.R283C; 17:7673773-7673773 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.847C>T; p.R283C; 17:7673773-7673773 |
breast | carcinoma | Substitution - Missense |
c.763A>G; p.I255V; 17:7674200-7674200 |
ovary | carcinoma | Substitution - Missense |
c.184G>T; p.E62*; 17:7676185-7676185 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.184G>T; p.E62*; 17:7676185-7676185 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.184G>T; p.E62*; 17:7676185-7676185 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.434T>A; p.L145Q; 17:7675178-7675178 |
pancreas | carcinoma | Substitution - Missense |
c.830_831insCTG; p.C277_P278insC; 17:7673789-7673790 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - In frame |
c.434T>A; p.L145Q; 17:7675178-7675178 |
breast | carcinoma | Substitution - Missense |
c.434T>A; p.L145Q; 17:7675178-7675178 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.184G>T; p.E62*; 17:7676185-7676185 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.184G>T; p.E62*; 17:7676185-7676185 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.919+1G>C; p.?; 17:7673700-7673700 |
prostate | carcinoma | Unknown |
c.684C>T; p.D228D; 17:7674279-7674279 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.655_656CC>TG; p.P219C; 17:7674875-7674876 |
upper_aerodigestive_tract; head_neck | carcinoma | Substitution - Missense |
c.434T>A; p.L145Q; 17:7675178-7675178 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.382delC; p.P128fs*42; 17:7675230-7675230 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.490_491insN; p.K164fs*17; 17:7675121-7675122 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.847C>T; p.R283C; 17:7673773-7673773 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.684C>A; p.D228E; 17:7674279-7674279 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.643delA; p.S215fs*32; 17:7674888-7674888 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.994-2A>G; p.?; 17:7670717-7670717 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.517delG; p.V173fs*1; 17:7675095-7675095 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.338T>C; p.F113S; 17:7676031-7676031 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.847C>T; p.R283C; 17:7673773-7673773 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.382delC; p.P128fs*42; 17:7675230-7675230 |
ovary | other; neoplasm | Deletion - Frameshift |
c.847C>T; p.R283C; 17:7673773-7673773 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.434T>A; p.L145Q; 17:7675178-7675178 |
oesophagus | carcinoma | Substitution - Missense |
c.517delG; p.V173fs*1; 17:7675095-7675095 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.994-2A>G; p.?; 17:7670717-7670717 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.604C>G; p.R202G; 17:7674927-7674927 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.847C>T; p.R283C; 17:7673773-7673773 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.847C>T; p.R283C; 17:7673773-7673773 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Missense |
c.822T>C; p.V274V; 17:7673798-7673798 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.918_919ins74; p.A307fs*63; 17:7673701-7673702 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.847C>T; p.R283C; 17:7673773-7673773 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.994-2A>G; p.?; 17:7670717-7670717 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.847C>T; p.R283C; 17:7673773-7673773 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.641A>C; p.H214P; 17:7674890-7674890 |
stomach | adenocarcinoma | Substitution - Missense |
c.434T>A; p.L145Q; 17:7675178-7675178 |
pancreas | carcinoma | Substitution - Missense |
c.684C>T; p.D228D; 17:7674279-7674279 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Substitution - coding silent |
c.338T>C; p.F113S; 17:7676031-7676031 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1018A>G; p.M340V; 17:7670691-7670691 |
pancreas | NS | Substitution - Missense |
c.763A>G; p.I255V; 17:7674200-7674200 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.847C>T; p.R283C; 17:7673773-7673773 |
breast | carcinoma | Substitution - Missense |
c.492G>T; p.K164N; 17:7675120-7675120 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.285_286insN; p.S96fs*53; 17:7676083-7676084 |
breast | carcinoma | Insertion - Frameshift |
c.434T>A; p.L145Q; 17:7675178-7675178 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.434T>A; p.L145Q; 17:7675178-7675178 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.919+1G>C; p.?; 17:7673700-7673700 |
pancreas | carcinoma | Unknown |
c.684C>T; p.D228D; 17:7674279-7674279 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.434T>A; p.L145Q; 17:7675178-7675178 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.492G>T; p.K164N; 17:7675120-7675120 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.478_481ATGG>NNN; p.M160fs*10; 17:7675131-7675134 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Complex - frameshift |
c.847C>T; p.R283C; 17:7673773-7673773 |
skin | malignant_melanoma | Substitution - Missense |
c.434T>A; p.L145Q; 17:7675178-7675178 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.434T>A; p.L145Q; 17:7675178-7675178 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.847C>T; p.R283C; 17:7673773-7673773 |
breast | carcinoma | Substitution - Missense |
c.711_712insN; p.C238fs*2; 17:7674251-7674252 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.954A>G; p.P318P; 17:7673574-7673574 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.919+1G>C; p.?; 17:7673700-7673700 |
large_intestine; rectum | carcinoma | Unknown |
c.981T>G; p.Y327*; 17:7673547-7673547 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.434T>A; p.L145Q; 17:7675178-7675178 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.847C>T; p.R283C; 17:7673773-7673773 |
ovary | other; neoplasm | Substitution - Missense |
c.492G>T; p.K164N; 17:7675120-7675120 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.434T>A; p.L145Q; 17:7675178-7675178 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.184G>T; p.E62*; 17:7676185-7676185 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.452_454delCCC; p.P153delP; 17:7675158-7675160 |
lung | carcinoma; adenocarcinoma | Deletion - In frame |
c.434T>A; p.L145Q; 17:7675178-7675178 |
oesophagus | carcinoma | Substitution - Missense |
c.434T>A; p.L145Q; 17:7675178-7675178 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.492G>T; p.K164N; 17:7675120-7675120 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.492G>T; p.K164N; 17:7675120-7675120 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.517delG; p.V173fs*1; 17:7675095-7675095 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1057G>A; p.A353T; 17:7670652-7670652 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.919+1G>C; p.?; 17:7673700-7673700 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.981T>G; p.Y327*; 17:7673547-7673547 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.96+1G>A; p.?; 17:7676381-7676381 |
liver | carcinoma | Unknown |
c.841G>A; p.D281N; 17:7673779-7673779 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.845_846GG>AT; p.R282H; 17:7673774-7673775 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
liver | carcinoma | Substitution - Missense |
c.778_780delTCC; p.S261delS; 17:7674183-7674185 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.499C>A; p.Q167K; 17:7675113-7675113 |
breast | carcinoma | Substitution - Missense |
c.565G>A; p.A189T; 17:7674966-7674966 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.580C>T; p.L194F; 17:7674951-7674951 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.451C>G; p.P151A; 17:7675161-7675161 |
oesophagus | carcinoma | Substitution - Missense |
c.841G>A; p.D281N; 17:7673779-7673779 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.451C>G; p.P151A; 17:7675161-7675161 |
breast | carcinoma | Substitution - Missense |
c.841G>A; p.D281N; 17:7673779-7673779 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
liver | carcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
ovary | carcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.580C>T; p.L194F; 17:7674951-7674951 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.826_829delGCCT; p.A276fs*68; 17:7673791-7673794 |
central_nervous_system; brain | glioma; astrocytoma | Deletion - Frameshift |
c.731G>A; p.G244D; 17:7674232-7674232 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.461_462ins24; p.T155_R156insDSTPPPGT; 17:7675150-7675151 |
ovary | carcinoma; serous_carcinoma | Insertion - In frame |
c.731G>A; p.G244D; 17:7674232-7674232 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.580C>T; p.L194F; 17:7674951-7674951 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.451C>G; p.P151A; 17:7675161-7675161 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.451C>G; p.P151A; 17:7675161-7675161 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.580C>T; p.L194F; 17:7674951-7674951 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.532_533insC; p.H178fs*3; 17:7675079-7675080 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.841G>A; p.D281N; 17:7673779-7673779 |
endometrium | carcinoma; adenocarcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
ovary | carcinoma | Substitution - Missense |
c.779C>G; p.S260C; 17:7674184-7674184 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.580C>T; p.L194F; 17:7674951-7674951 |
stomach | adenoma | Substitution - Missense |
c.580C>T; p.L194F; 17:7674951-7674951 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.841G>A; p.D281N; 17:7673779-7673779 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.580C>T; p.L194F; 17:7674951-7674951 |
stomach | other; metaplasia | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.580C>T; p.L194F; 17:7674951-7674951 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.580C>T; p.L194F; 17:7674951-7674951 |
stomach | carcinoma | Substitution - Missense |
c.414C>T; p.A138A; 17:7675198-7675198 |
breast | carcinoma | Substitution - coding silent |
c.752_753insT; p.L252fs*12; 17:7674210-7674211 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.731G>A; p.G244D; 17:7674232-7674232 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.841G>A; p.D281N; 17:7673779-7673779 |
large_intestine; appendix | carcinoid-endocrine_tumour | Substitution - Missense |
c.841G>A; p.D281N; 17:7673779-7673779 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.626delG; p.R209fs*38; 17:7674905-7674905 |
breast | carcinoma | Deletion - Frameshift |
c.841G>A; p.D281N; 17:7673779-7673779 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.580C>T; p.L194F; 17:7674951-7674951 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.451C>G; p.P151A; 17:7675161-7675161 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.841G>A; p.D281N; 17:7673779-7673779 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.779C>G; p.S260C; 17:7674184-7674184 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.841G>A; p.D281N; 17:7673779-7673779 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.841G>A; p.D281N; 17:7673779-7673779 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.482delC; p.I162fs*8; 17:7675130-7675130 |
ovary | carcinoma | Deletion - Frameshift |
c.841G>A; p.D281N; 17:7673779-7673779 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_I | Substitution - Missense |
c.841G>A; p.D281N; 17:7673779-7673779 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.565G>A; p.A189T; 17:7674966-7674966 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.580C>T; p.L194F; 17:7674951-7674951 |
skin; leg | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.429G>T; p.V143V; 17:7675183-7675183 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - coding silent |
c.841G>A; p.D281N; 17:7673779-7673779 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.528delC; p.H178fs*69; 17:7675084-7675084 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour | Deletion - Frameshift |
c.96+1G>A; p.?; 17:7676381-7676381 |
skin; face | carcinoma; basal_cell_carcinoma | Unknown |
c.731G>A; p.G244D; 17:7674232-7674232 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.96+1G>A; p.?; 17:7676381-7676381 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.451C>G; p.P151A; 17:7675161-7675161 |
ovary | carcinoma | Substitution - Missense |
c.841G>A; p.D281N; 17:7673779-7673779 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.528delC; p.H178fs*69; 17:7675084-7675084 |
ovary | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Deletion - Frameshift |
c.451C>G; p.P151A; 17:7675161-7675161 |
liver | carcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.580C>T; p.L194F; 17:7674951-7674951 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.451C>G; p.P151A; 17:7675161-7675161 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.96+1G>A; p.?; 17:7676381-7676381 |
liver | carcinoma | Unknown |
c.451C>G; p.P151A; 17:7675161-7675161 |
liver | carcinoma | Substitution - Missense |
c.522_523delGC; p.R175fs*5; 17:7675089-7675090 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.451C>G; p.P151A; 17:7675161-7675161 |
liver | carcinoma | Substitution - Missense |
c.841G>A; p.D281N; 17:7673779-7673779 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.841G>A; p.D281N; 17:7673779-7673779 |
breast | carcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.580C>T; p.L194F; 17:7674951-7674951 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.96+1G>A; p.?; 17:7676381-7676381 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour | Unknown |
c.451C>G; p.P151A; 17:7675161-7675161 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.841G>A; p.D281N; 17:7673779-7673779 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.841G>A; p.D281N; 17:7673779-7673779 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.912_913insN; p.K305fs*32; 17:7673707-7673708 |
breast | carcinoma | Insertion - Frameshift |
c.580C>T; p.L194F; 17:7674951-7674951 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.841G>A; p.D281N; 17:7673779-7673779 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.580C>T; p.L194F; 17:7674951-7674951 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.200C>T; p.P67L; 17:7676169-7676169 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.580C>T; p.L194F; 17:7674951-7674951 |
breast | carcinoma | Substitution - Missense |
c.841G>A; p.D281N; 17:7673779-7673779 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.580C>T; p.L194F; 17:7674951-7674951 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.470T>C; p.V157A; 17:7675142-7675142 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.565G>A; p.A189T; 17:7674966-7674966 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.841G>A; p.D281N; 17:7673779-7673779 |
breast | carcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
breast | carcinoma | Substitution - Missense |
c.528delC; p.H178fs*69; 17:7675084-7675084 |
skin | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.841G>A; p.D281N; 17:7673779-7673779 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.779C>G; p.S260C; 17:7674184-7674184 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.451C>G; p.P151A; 17:7675161-7675161 |
breast | carcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
breast | carcinoma | Substitution - Missense |
c.96+1G>A; p.?; 17:7676381-7676381 |
ovary | carcinoma | Unknown |
c.731G>A; p.G244D; 17:7674232-7674232 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
breast | carcinoma | Substitution - Missense |
c.841G>A; p.D281N; 17:7673779-7673779 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.841G>A; p.D281N; 17:7673779-7673779 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.532_533insC; p.H178fs*3; 17:7675079-7675080 |
liver | carcinoma | Insertion - Frameshift |
c.731G>A; p.G244D; 17:7674232-7674232 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.214_216CGC>GG; p.R72fs*51; 17:7676153-7676155 |
breast | carcinoma; ER-PR-positive_carcinoma | Complex - frameshift |
c.580C>T; p.L194F; 17:7674951-7674951 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
cervix | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.451C>G; p.P151A; 17:7675161-7675161 |
breast | carcinoma | Substitution - Missense |
c.580C>T; p.L194F; 17:7674951-7674951 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.841G>A; p.D281N; 17:7673779-7673779 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.580C>T; p.L194F; 17:7674951-7674951 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.731G>A; p.G244D; 17:7674232-7674232 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.96+1G>A; p.?; 17:7676381-7676381 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.580C>T; p.L194F; 17:7674951-7674951 |
oesophagus | carcinoma | Substitution - Missense |
c.841G>A; p.D281N; 17:7673779-7673779 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.626delG; p.R209fs*38; 17:7674905-7674905 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.731G>A; p.G244D; 17:7674232-7674232 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.580C>T; p.L194F; 17:7674951-7674951 |
skin; face | other; hyperplasia | Substitution - Missense |
c.451C>G; p.P151A; 17:7675161-7675161 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.673-1G>A; p.?; 17:7674291-7674291 |
central_nervous_system; cerebellum | glioma; astrocytoma_Grade_IV | Unknown |
c.892G>T; p.E298*; 17:7673728-7673728 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.892G>T; p.E298*; 17:7673728-7673728 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.427G>A; p.V143M; 17:7675185-7675185 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.193_213del21; p.R65_P71delRMPEAAP; 17:7676156-7676176 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.892G>T; p.E298*; 17:7673728-7673728 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.536A>C; p.H179P; 17:7675076-7675076 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.515T>G; p.V172G; 17:7675097-7675097 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.892G>T; p.E298*; 17:7673728-7673728 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.673-1G>A; p.?; 17:7674291-7674291 |
oesophagus | carcinoma | Unknown |
c.427G>A; p.V143M; 17:7675185-7675185 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.622_659del38; p.D208fs*1; 17:7674872-7674909 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Deletion - Frameshift |
c.325_332delTTCCGTCT; p.F109fs*37; 17:7676037-7676044 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.982T>G; p.F328V; 17:7673546-7673546 |
stomach | carcinoma | Substitution - Missense |
c.892G>T; p.E298*; 17:7673728-7673728 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.515T>G; p.V172G; 17:7675097-7675097 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.482C>A; p.A161D; 17:7675130-7675130 |
cervix | carcinoma; endocervical_adenocarcinoma | Substitution - Missense |
c.844C>A; p.R282R; 17:7673776-7673776 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.892G>T; p.E298*; 17:7673728-7673728 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.746delG; p.R249fs*96; 17:7674217-7674217 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Deletion - Frameshift |
c.424_425CC>TT; p.P142F; 17:7675187-7675188 |
skin; face | in_situ_epithelial_neoplasm | Substitution - Missense |
c.892G>T; p.E298*; 17:7673728-7673728 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.673-1G>A; p.?; 17:7674291-7674291 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.892G>T; p.E298*; 17:7673728-7673728 |
breast | carcinoma | Substitution - Nonsense |
c.892G>T; p.E298*; 17:7673728-7673728 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.892G>T; p.E298*; 17:7673728-7673728 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.778_779delTC; p.S260fs*3; 17:7674184-7674185 |
breast | carcinoma | Deletion - Frameshift |
c.892G>T; p.E298*; 17:7673728-7673728 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.782+1C>A; p.?; 17:7674180-7674180 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.547_548delTC; p.S183fs*2; 17:7675064-7675065 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Deletion - Frameshift |
c.427G>A; p.V143M; 17:7675185-7675185 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.482C>A; p.A161D; 17:7675130-7675130 |
upper_aerodigestive_tract; head_neck | carcinoma | Substitution - Missense |
c.892G>T; p.E298*; 17:7673728-7673728 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.720_721insN; p.S241fs*23; 17:7674242-7674243 |
ovary | carcinoma | Insertion - Frameshift |
c.427G>A; p.V143M; 17:7675185-7675185 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.482C>A; p.A161D; 17:7675130-7675130 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.427G>A; p.V143M; 17:7675185-7675185 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.746delG; p.R249fs*96; 17:7674217-7674217 |
adrenal_gland; adrenal_gland | adrenal_cortical_adenoma | Deletion - Frameshift |
c.892G>T; p.E298*; 17:7673728-7673728 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.892G>T; p.E298*; 17:7673728-7673728 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Nonsense |
c.427G>A; p.V143M; 17:7675185-7675185 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.892G>T; p.E298*; 17:7673728-7673728 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.427G>A; p.V143M; 17:7675185-7675185 |
salivary_gland; major | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.673-1G>A; p.?; 17:7674291-7674291 |
oesophagus | carcinoma | Unknown |
c.746_747delGG; p.R249fs*14; 17:7674216-7674217 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Deletion - Frameshift |
c.536A>C; p.H179P; 17:7675076-7675076 |
small_intestine; duodenum | carcinoma; adenocarcinoma | Substitution - Missense |
c.538G>C; p.E180Q; 17:7675074-7675074 |
breast | carcinoma | Substitution - Missense |
c.892G>T; p.E298*; 17:7673728-7673728 |
lung | carcinoma; lymphoepithelioma_like_carcinoma | Substitution - Nonsense |
c.892G>T; p.E298*; 17:7673728-7673728 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.892G>T; p.E298*; 17:7673728-7673728 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.994-1G>A; p.?; 17:7670716-7670716 |
lung | carcinoma | Unknown |
c.673-1G>A; p.?; 17:7674291-7674291 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_IV | Unknown |
c.427G>A; p.V143M; 17:7675185-7675185 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.673-1G>A; p.?; 17:7674291-7674291 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Unknown |
c.507G>A; p.M169I; 17:7675105-7675105 |
skin; eye | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.427G>A; p.V143M; 17:7675185-7675185 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.673-1G>A; p.?; 17:7674291-7674291 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Unknown |
c.529_530CC>AT; p.P177I; 17:7675082-7675083 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.427G>A; p.V143M; 17:7675185-7675185 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.427G>A; p.V143M; 17:7675185-7675185 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.427G>A; p.V143M; 17:7675185-7675185 |
prostate | carcinoma | Substitution - Missense |
c.482C>A; p.A161D; 17:7675130-7675130 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.892G>T; p.E298*; 17:7673728-7673728 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.892G>T; p.E298*; 17:7673728-7673728 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.515T>G; p.V172G; 17:7675097-7675097 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.844C>A; p.R282R; 17:7673776-7673776 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.892G>T; p.E298*; 17:7673728-7673728 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.507G>A; p.M169I; 17:7675105-7675105 |
breast | carcinoma | Substitution - Missense |
c.427G>A; p.V143M; 17:7675185-7675185 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.507G>A; p.M169I; 17:7675105-7675105 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.778_779delTC; p.S260fs*3; 17:7674184-7674185 |
breast | carcinoma | Deletion - Frameshift |
c.427G>A; p.V143M; 17:7675185-7675185 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.892G>T; p.E298*; 17:7673728-7673728 |
breast | carcinoma | Substitution - Nonsense |
c.892G>T; p.E298*; 17:7673728-7673728 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.673-1G>A; p.?; 17:7674291-7674291 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.892G>T; p.E298*; 17:7673728-7673728 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.482C>A; p.A161D; 17:7675130-7675130 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.427G>A; p.V143M; 17:7675185-7675185 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.427G>A; p.V143M; 17:7675185-7675185 |
salivary_gland; major | adenoma; pleomorphic | Substitution - Missense |
c.515T>G; p.V172G; 17:7675097-7675097 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.427G>A; p.V143M; 17:7675185-7675185 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.427G>A; p.V143M; 17:7675185-7675185 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.844C>A; p.R282R; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.427G>A; p.V143M; 17:7675185-7675185 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_myelodysplastic_syndrome_therapy_related_NOS | Substitution - Missense |
c.892G>T; p.E298*; 17:7673728-7673728 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.536A>C; p.H179P; 17:7675076-7675076 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.507G>A; p.M169I; 17:7675105-7675105 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.507G>A; p.M169I; 17:7675105-7675105 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.673-1G>A; p.?; 17:7674291-7674291 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.892G>T; p.E298*; 17:7673728-7673728 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.746delG; p.R249fs*96; 17:7674217-7674217 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.892G>T; p.E298*; 17:7673728-7673728 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.427G>A; p.V143M; 17:7675185-7675185 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.892G>T; p.E298*; 17:7673728-7673728 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.892G>T; p.E298*; 17:7673728-7673728 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.673-1G>A; p.?; 17:7674291-7674291 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.427G>A; p.V143M; 17:7675185-7675185 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.482C>A; p.A161D; 17:7675130-7675130 |
breast | carcinoma | Substitution - Missense |
c.507G>A; p.M169I; 17:7675105-7675105 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.892G>T; p.E298*; 17:7673728-7673728 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.892G>T; p.E298*; 17:7673728-7673728 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.673-1G>A; p.?; 17:7674291-7674291 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.892G>T; p.E298*; 17:7673728-7673728 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.248C>A; p.A83E; 17:7676121-7676121 |
skin | other; keratosis | Substitution - Missense |
c.748delC; p.I251fs*94; 17:7674215-7674215 |
stomach | carcinoma; tubular_adenocarcinoma | Deletion - Frameshift |
c.748delC; p.I251fs*94; 17:7674215-7674215 |
breast | carcinoma | Deletion - Frameshift |
c.892G>T; p.E298*; 17:7673728-7673728 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.673-1G>A; p.?; 17:7674291-7674291 |
breast | carcinoma | Unknown |
c.424_425CC>TT; p.P142F; 17:7675187-7675188 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.748delC; p.I251fs*94; 17:7674215-7674215 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.673-1G>A; p.?; 17:7674291-7674291 |
pancreas | carcinoma | Unknown |
c.892G>T; p.E298*; 17:7673728-7673728 |
lung | carcinoma; pleomorphic_carcinoma | Substitution - Nonsense |
c.482C>A; p.A161D; 17:7675130-7675130 |
ovary | carcinoma | Substitution - Missense |
c.892G>T; p.E298*; 17:7673728-7673728 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.536A>C; p.H179P; 17:7675076-7675076 |
breast | carcinoma | Substitution - Missense |
c.892G>T; p.E298*; 17:7673728-7673728 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.482C>A; p.A161D; 17:7675130-7675130 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.673-1G>A; p.?; 17:7674291-7674291 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.427G>A; p.V143M; 17:7675185-7675185 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.782+12C>T; p.?; 17:7674169-7674169 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Unknown |
c.746delG; p.R249fs*96; 17:7674217-7674217 |
adrenal_gland; adrenal_gland | pheochromocytoma | Deletion - Frameshift |
c.892G>T; p.E298*; 17:7673728-7673728 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.892G>T; p.E298*; 17:7673728-7673728 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.892G>T; p.E298*; 17:7673728-7673728 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.892G>T; p.E298*; 17:7673728-7673728 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.295delT; p.S99fs*24; 17:7676074-7676074 |
breast | carcinoma; medullary_carcinoma | Deletion - Frameshift |
c.673-1G>A; p.?; 17:7674291-7674291 |
breast | carcinoma | Unknown |
c.892G>T; p.E298*; 17:7673728-7673728 |
breast | carcinoma | Substitution - Nonsense |
c.673-1G>A; p.?; 17:7674291-7674291 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.536A>C; p.H179P; 17:7675076-7675076 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.427G>A; p.V143M; 17:7675185-7675185 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.427G>A; p.V143M; 17:7675185-7675185 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.892G>T; p.E298*; 17:7673728-7673728 |
oesophagus | carcinoma | Substitution - Nonsense |
c.892G>T; p.E298*; 17:7673728-7673728 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.892G>T; p.E298*; 17:7673728-7673728 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.892G>T; p.E298*; 17:7673728-7673728 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.892G>T; p.E298*; 17:7673728-7673728 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.559+1_559+2insG; p.?; 17:7675051-7675052 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.302_303insNNNNN; p.K101fs*24; 17:7676066-7676067 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.994-1G>A; p.?; 17:7670716-7670716 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.748delC; p.I251fs*94; 17:7674215-7674215 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.892G>T; p.E298*; 17:7673728-7673728 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.507G>A; p.M169I; 17:7675105-7675105 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.482C>A; p.A161D; 17:7675130-7675130 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.892G>T; p.E298*; 17:7673728-7673728 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.892G>T; p.E298*; 17:7673728-7673728 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.673-1G>A; p.?; 17:7674291-7674291 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.994-1G>A; p.?; 17:7670716-7670716 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Unknown |
c.892G>T; p.E298*; 17:7673728-7673728 |
salivary_gland; major | carcinoma | Substitution - Nonsense |
c.394A>T; p.K132*; 17:7675218-7675218 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.1097_1100delCCAG; p.S367fs*2; 17:7670609-7670612 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Deletion - Frameshift |
c.653T>A; p.V218E; 17:7674878-7674878 |
oesophagus | other; dysplasia | Substitution - Missense |
c.856G>C; p.E286Q; 17:7673764-7673764 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.653T>A; p.V218E; 17:7674878-7674878 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.889C>T; p.H297Y; 17:7673731-7673731 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.753C>A; p.I251I; 17:7674210-7674210 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.537T>A; p.H179Q; 17:7675075-7675075 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.756C>T; p.L252L; 17:7674207-7674207 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.653T>A; p.V218E; 17:7674878-7674878 |
ovary | carcinoma | Substitution - Missense |
c.537T>A; p.H179Q; 17:7675075-7675075 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.481_484delGCCA; p.A161fs*8; 17:7675128-7675131 |
breast | carcinoma | Deletion - Frameshift |
c.653T>A; p.V218E; 17:7674878-7674878 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.537T>A; p.H179Q; 17:7675075-7675075 |
central_nervous_system; brain | glioma; oligoastrocytoma | Substitution - Missense |
c.565G>T; p.A189S; 17:7674966-7674966 |
breast | carcinoma | Substitution - Missense |
c.419_425delCCTGCCC; p.T140fs*28; 17:7675187-7675193 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.394A>T; p.K132*; 17:7675218-7675218 |
liver | carcinoma | Substitution - Nonsense |
c.745_750delAGGCCC; p.R249_P250delRP; 17:7674213-7674218 |
breast | carcinoma | Deletion - In frame |
c.611_612insN; p.E204fs*5; 17:7674919-7674920 |
breast | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.331C>A; p.L111M; 17:7676038-7676038 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.785delG; p.G262fs*83; 17:7673835-7673835 |
central_nervous_system; thalamus | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.537T>A; p.H179Q; 17:7675075-7675075 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.537T>A; p.H179Q; 17:7675075-7675075 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.892G>C; p.E298Q; 17:7673728-7673728 |
breast | carcinoma | Substitution - Missense |
c.397_404delATGTTTTG; p.M133fs*13; 17:7675208-7675215 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.537T>A; p.H179Q; 17:7675075-7675075 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.713_724del12; p.N239_C242del; 17:7674239-7674250 |
pancreas | NS | Deletion - In frame |
c.653T>A; p.V218E; 17:7674878-7674878 |
breast | carcinoma | Substitution - Missense |
c.537T>A; p.H179Q; 17:7675075-7675075 |
breast | carcinoma | Substitution - Missense |
c.537T>A; p.H179Q; 17:7675075-7675075 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.537T>A; p.H179Q; 17:7675075-7675075 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.653T>A; p.V218E; 17:7674878-7674878 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.853_864del12; p.E285_N288delEEEN; 17:7673756-7673767 |
breast | carcinoma | Deletion - In frame |
c.537T>A; p.H179Q; 17:7675075-7675075 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.435G>A; p.L145L; 17:7675177-7675177 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.889C>T; p.H297Y; 17:7673731-7673731 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.537T>A; p.H179Q; 17:7675075-7675075 |
breast | carcinoma | Substitution - Missense |
c.856G>C; p.E286Q; 17:7673764-7673764 |
breast | carcinoma | Substitution - Missense |
c.856G>C; p.E286Q; 17:7673764-7673764 |
eye; conjunctiva | other; pterygium | Substitution - Missense |
c.537T>A; p.H179Q; 17:7675075-7675075 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>C; p.E286Q; 17:7673764-7673764 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.653T>A; p.V218E; 17:7674878-7674878 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.876A>T; p.K292N; 17:7673744-7673744 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.653T>A; p.V218E; 17:7674878-7674878 |
oesophagus | other; dysplasia | Substitution - Missense |
c.537T>A; p.H179Q; 17:7675075-7675075 |
breast | carcinoma | Substitution - Missense |
c.611_612insN; p.E204fs*5; 17:7674919-7674920 |
breast | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.537T>A; p.H179Q; 17:7675075-7675075 |
ovary | other; neoplasm | Substitution - Missense |
c.394A>T; p.K132*; 17:7675218-7675218 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.537T>A; p.H179Q; 17:7675075-7675075 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>C; p.E286Q; 17:7673764-7673764 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.756C>T; p.L252L; 17:7674207-7674207 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.394A>T; p.K132*; 17:7675218-7675218 |
liver | carcinoma | Substitution - Nonsense |
c.753C>A; p.I251I; 17:7674210-7674210 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.435G>A; p.L145L; 17:7675177-7675177 |
stomach | carcinoma | Substitution - coding silent |
c.435G>A; p.L145L; 17:7675177-7675177 |
prostate | in_situ_neoplasm; glandular_intraepithelial_neoplasia_Grade_III | Substitution - coding silent |
c.537T>A; p.H179Q; 17:7675075-7675075 |
liver | carcinoma | Substitution - Missense |
c.394A>T; p.K132*; 17:7675218-7675218 |
ovary | carcinoma | Substitution - Nonsense |
c.394A>T; p.K132*; 17:7675218-7675218 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.785delG; p.G262fs*83; 17:7673835-7673835 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.889C>T; p.H297Y; 17:7673731-7673731 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.753delC; p.L252fs*93; 17:7674210-7674210 |
breast | carcinoma | Deletion - Frameshift |
c.537T>A; p.H179Q; 17:7675075-7675075 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.856G>C; p.E286Q; 17:7673764-7673764 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.753C>A; p.I251I; 17:7674210-7674210 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.464C>T; p.T155I; 17:7675148-7675148 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.755T>C; p.L252P; 17:7674208-7674208 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.313G>C; p.G105R; 17:7676056-7676056 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.533A>C; p.H178P; 17:7675079-7675079 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.583A>T; p.I195F; 17:7674948-7674948 |
liver | carcinoma | Substitution - Missense |
c.841G>T; p.D281Y; 17:7673779-7673779 |
breast | carcinoma | Substitution - Missense |
c.841G>T; p.D281Y; 17:7673779-7673779 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.583A>T; p.I195F; 17:7674948-7674948 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.783_784insNNN; p.S261_G262insX; 17:7673836-7673837 |
urinary_tract; bladder | carcinoma | Insertion - In frame |
c.583A>T; p.I195F; 17:7674948-7674948 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.755T>C; p.L252P; 17:7674208-7674208 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.583A>T; p.I195F; 17:7674948-7674948 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.583A>T; p.I195F; 17:7674948-7674948 |
soft_tissue; fibrous_tissue_and_uncertain_o | synovial_sarcoma | Substitution - Missense |
c.583A>T; p.I195F; 17:7674948-7674948 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.583A>T; p.I195F; 17:7674948-7674948 |
liver | carcinoma | Substitution - Missense |
c.568_570delCCT; p.P191delP; 17:7674961-7674963 |
oesophagus | carcinoma; adenocarcinoma | Deletion - In frame |
c.313G>C; p.G105R; 17:7676056-7676056 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.313G>C; p.G105R; 17:7676056-7676056 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.533A>C; p.H178P; 17:7675079-7675079 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.464C>T; p.T155I; 17:7675148-7675148 |
ovary | carcinoma | Substitution - Missense |
c.841G>T; p.D281Y; 17:7673779-7673779 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.533A>C; p.H178P; 17:7675079-7675079 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.841G>T; p.D281Y; 17:7673779-7673779 |
haematopoietic_and_lymphoid_tissue; skin | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Missense |
c.680C>T; p.S227F; 17:7674283-7674283 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.583A>T; p.I195F; 17:7674948-7674948 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743_744GG>TT; p.R248L; 17:7674219-7674220 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.680C>T; p.S227F; 17:7674283-7674283 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.583A>T; p.I195F; 17:7674948-7674948 |
pancreas | carcinoma | Substitution - Missense |
c.583A>T; p.I195F; 17:7674948-7674948 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.841G>T; p.D281Y; 17:7673779-7673779 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.755T>C; p.L252P; 17:7674208-7674208 |
skin | malignant_melanoma | Substitution - Missense |
c.322_327delGGTTTC; p.G108_F109delGF; 17:7676042-7676047 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.759_760insN; p.I254fs*10; 17:7674203-7674204 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.615T>G; p.Y205*; 17:7674916-7674916 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.583A>T; p.I195F; 17:7674948-7674948 |
breast | carcinoma | Substitution - Missense |
c.841G>T; p.D281Y; 17:7673779-7673779 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.841G>T; p.D281Y; 17:7673779-7673779 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.841G>T; p.D281Y; 17:7673779-7673779 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.765C>T; p.I255I; 17:7674198-7674198 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.841G>T; p.D281Y; 17:7673779-7673779 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.680C>T; p.S227F; 17:7674283-7674283 |
skin; face | other; keratosis | Substitution - Missense |
c.680C>T; p.S227F; 17:7674283-7674283 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.755T>C; p.L252P; 17:7674208-7674208 |
lung | carcinoma; pleomorphic_carcinoma | Substitution - Missense |
c.583A>T; p.I195F; 17:7674948-7674948 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.322_327delGGTTTC; p.G108_F109delGF; 17:7676042-7676047 |
breast | carcinoma | Deletion - In frame |
c.350G>A; p.G117E; 17:7676019-7676019 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.759_760insN; p.I254fs*10; 17:7674203-7674204 |
stomach | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.583A>T; p.I195F; 17:7674948-7674948 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.350G>A; p.G117E; 17:7676019-7676019 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.464C>T; p.T155I; 17:7675148-7675148 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.583A>T; p.I195F; 17:7674948-7674948 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.583A>T; p.I195F; 17:7674948-7674948 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.583A>T; p.I195F; 17:7674948-7674948 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.680C>T; p.S227F; 17:7674283-7674283 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.287C>G; p.S96C; 17:7676082-7676082 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.583A>T; p.I195F; 17:7674948-7674948 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.492_493insNNNNNNNNN; p.K164_Q165insXXX; 17:7675119-7675120 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Insertion - In frame |
c.723_724insNNNN; p.C242fs*23; 17:7674239-7674240 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.841G>T; p.D281Y; 17:7673779-7673779 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.583A>T; p.I195F; 17:7674948-7674948 |
pancreas | carcinoma | Substitution - Missense |
c.568_570delCCT; p.P191delP; 17:7674961-7674963 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.533A>C; p.H178P; 17:7675079-7675079 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.583A>T; p.I195F; 17:7674948-7674948 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.755T>C; p.L252P; 17:7674208-7674208 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.841G>T; p.D281Y; 17:7673779-7673779 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.464C>T; p.T155I; 17:7675148-7675148 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.464C>T; p.T155I; 17:7675148-7675148 |
lung | carcinoma; pleomorphic_carcinoma | Substitution - Missense |
c.743_744GG>TT; p.R248L; 17:7674219-7674220 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.464C>T; p.T155I; 17:7675148-7675148 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.583A>T; p.I195F; 17:7674948-7674948 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.629_630ins28; p.N210fs*15; 17:7674901-7674902 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.755T>C; p.L252P; 17:7674208-7674208 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.464C>T; p.T155I; 17:7675148-7675148 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.533A>C; p.H178P; 17:7675079-7675079 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.841G>T; p.D281Y; 17:7673779-7673779 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.852A>T; p.T284T; 17:7673768-7673768 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - coding silent |
c.841G>T; p.D281Y; 17:7673779-7673779 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.464C>T; p.T155I; 17:7675148-7675148 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.680C>T; p.S227F; 17:7674283-7674283 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.464C>T; p.T155I; 17:7675148-7675148 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.556_557delGA; p.D186fs*22; 17:7675055-7675056 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.209_210insNN; p.P71fs*53; 17:7676159-7676160 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Insertion - Frameshift |
c.568_570delCCT; p.P191delP; 17:7674961-7674963 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.759_760insN; p.I254fs*10; 17:7674203-7674204 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.755T>C; p.L252P; 17:7674208-7674208 |
breast | carcinoma | Substitution - Missense |
c.568_570delCCT; p.P191delP; 17:7674961-7674963 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.583A>T; p.I195F; 17:7674948-7674948 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.755T>C; p.L252P; 17:7674208-7674208 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.680C>T; p.S227F; 17:7674283-7674283 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.533A>C; p.H178P; 17:7675079-7675079 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.583A>T; p.I195F; 17:7674948-7674948 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.755T>C; p.L252P; 17:7674208-7674208 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.464C>T; p.T155I; 17:7675148-7675148 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.583A>T; p.I195F; 17:7674948-7674948 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.852A>T; p.T284T; 17:7673768-7673768 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - coding silent |
c.583A>T; p.I195F; 17:7674948-7674948 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.533A>C; p.H178P; 17:7675079-7675079 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.583A>T; p.I195F; 17:7674948-7674948 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.568_570delCCT; p.P191delP; 17:7674961-7674963 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.464C>T; p.T155I; 17:7675148-7675148 |
soft_tissue; fat | liposarcoma; pleomorphic | Substitution - Missense |
c.568_570delCCT; p.P191delP; 17:7674961-7674963 |
bone | osteosarcoma | Deletion - In frame |
c.755T>C; p.L252P; 17:7674208-7674208 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Missense |
c.464C>T; p.T155I; 17:7675148-7675148 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.464C>T; p.T155I; 17:7675148-7675148 |
breast | carcinoma | Substitution - Missense |
c.852A>T; p.T284T; 17:7673768-7673768 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - coding silent |
c.583A>T; p.I195F; 17:7674948-7674948 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.583A>T; p.I195F; 17:7674948-7674948 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>T; p.Y220F; 17:7674872-7674872 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.464C>T; p.T155I; 17:7675148-7675148 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.680C>T; p.S227F; 17:7674283-7674283 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.972T>A; p.D324E; 17:7673556-7673556 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.464C>T; p.T155I; 17:7675148-7675148 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.375+2_375+3insT; p.?; 17:7675991-7675992 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.313G>C; p.G105R; 17:7676056-7676056 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.615T>G; p.Y205*; 17:7674916-7674916 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.464C>T; p.T155I; 17:7675148-7675148 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Missense |
c.583A>T; p.I195F; 17:7674948-7674948 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.759_760insN; p.I254fs*10; 17:7674203-7674204 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Insertion - Frameshift |
c.841G>T; p.D281Y; 17:7673779-7673779 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.583A>T; p.I195F; 17:7674948-7674948 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.755T>C; p.L252P; 17:7674208-7674208 |
lung | carcinoma; pleomorphic_carcinoma | Substitution - Missense |
c.463A>C; p.T155P; 17:7675149-7675149 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.415A>C; p.K139Q; 17:7675197-7675197 |
breast | carcinoma | Substitution - Missense |
c.463A>C; p.T155P; 17:7675149-7675149 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.853_875del23; p.E285fs*13; 17:7673745-7673767 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.376-1G>A; p.?; 17:7675237-7675237 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.994delA; p.I332fs*13; 17:7670715-7670715 |
breast | carcinoma | Deletion - Frameshift |
c.462C>T; p.G154G; 17:7675150-7675150 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.463A>C; p.T155P; 17:7675149-7675149 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.463A>C; p.T155P; 17:7675149-7675149 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.835_838delGGGA; p.G279fs*65; 17:7673782-7673785 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.462C>T; p.G154G; 17:7675150-7675150 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - coding silent |
c.462C>T; p.G154G; 17:7675150-7675150 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - coding silent |
c.463A>C; p.T155P; 17:7675149-7675149 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.658_664delTATGAGC; p.Y220fs*25; 17:7674867-7674873 |
breast | carcinoma | Deletion - Frameshift |
c.463A>C; p.T155P; 17:7675149-7675149 |
lung | carcinoma | Substitution - Missense |
c.376-1G>A; p.?; 17:7675237-7675237 |
oesophagus | carcinoma | Unknown |
c.462C>T; p.G154G; 17:7675150-7675150 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Substitution - coding silent |
c.243_244insNNNNN; p.P82fs*43; 17:7676125-7676126 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.97-4A>G; p.?; 17:7676276-7676276 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour | Unknown |
c.463A>C; p.T155P; 17:7675149-7675149 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.139_275del137; p.D48fs*55; 17:7676094-7676230 |
prostate | hyperplasia | Deletion - Frameshift |
c.415A>C; p.K139Q; 17:7675197-7675197 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.463A>C; p.T155P; 17:7675149-7675149 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.462C>T; p.G154G; 17:7675150-7675150 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.463A>C; p.T155P; 17:7675149-7675149 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.358A>C; p.K120Q; 17:7676011-7676011 |
breast | carcinoma | Substitution - Missense |
c.317_374del58; p.Y107fs*44; 17:7675995-7676052 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.97-4A>G; p.?; 17:7676276-7676276 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour | Unknown |
c.463A>C; p.T155P; 17:7675149-7675149 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.376-1G>A; p.?; 17:7675237-7675237 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.74+12C>T; p.?; 17:7676509-7676509 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Unknown |
c.19G>C; p.D7H; 17:7676576-7676576 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.684C>G; p.D228E; 17:7674279-7674279 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.462C>T; p.G154G; 17:7675150-7675150 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.684C>G; p.D228E; 17:7674279-7674279 |
stomach | carcinoma; mucinous_adenocarcinoma | Substitution - Missense |
c.462C>T; p.G154G; 17:7675150-7675150 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.463A>C; p.T155P; 17:7675149-7675149 |
ovary | carcinoma | Substitution - Missense |
c.835_838delGGGA; p.G279fs*65; 17:7673782-7673785 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.712_729del18; p.C238_M243delCNSSCM; 17:7674234-7674251 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.376-1G>A; p.?; 17:7675237-7675237 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.376-1G>A; p.?; 17:7675237-7675237 |
breast | carcinoma | Unknown |
c.376-1G>A; p.?; 17:7675237-7675237 |
pancreas | carcinoma; ductal_carcinoma | Unknown |
c.376-1G>A; p.?; 17:7675237-7675237 |
ovary | carcinoma | Unknown |
c.462C>T; p.G154G; 17:7675150-7675150 |
stomach | adenoma | Substitution - coding silent |
c.463A>C; p.T155P; 17:7675149-7675149 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.463A>C; p.T155P; 17:7675149-7675149 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.684C>G; p.D228E; 17:7674279-7674279 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.463A>C; p.T155P; 17:7675149-7675149 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1009C>G; p.R337G; 17:7670700-7670700 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.954_955insGCCA; p.K319fs*19; 17:7673573-7673574 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.826_831delGCCTGT; p.A276_C277delAC; 17:7673789-7673794 |
stomach | carcinoma | Deletion - In frame |
c.376-1G>A; p.?; 17:7675237-7675237 |
breast | carcinoma | Unknown |
c.463A>C; p.T155P; 17:7675149-7675149 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.376-1G>A; p.?; 17:7675237-7675237 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.463A>C; p.T155P; 17:7675149-7675149 |
breast | carcinoma | Substitution - Missense |
c.684C>G; p.D228E; 17:7674279-7674279 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.462C>T; p.G154G; 17:7675150-7675150 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - coding silent |
c.376-1G>A; p.?; 17:7675237-7675237 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.376-1G>A; p.?; 17:7675237-7675237 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.652_663del12; p.V218_E221delVPYE; 17:7674868-7674879 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.215C>G; p.P72R; 17:7676154-7676154 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.773A>T; p.E258V; 17:7674190-7674190 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1005_1006delTG; p.E336fs*10; 17:7670703-7670704 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.215C>G; p.P72R; 17:7676154-7676154 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.215C>G; p.P72R; 17:7676154-7676154 |
upper_aerodigestive_tract; head_neck | carcinoma | Substitution - Missense |
c.309C>A; p.Y103*; 17:7676060-7676060 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.215C>G; p.P72R; 17:7676154-7676154 |
upper_aerodigestive_tract; head_neck | carcinoma | Substitution - Missense |
c.420_421insNN; p.C141fs*30; 17:7675191-7675192 |
breast | carcinoma | Insertion - Frameshift |
c.1005_1006delTG; p.E336fs*10; 17:7670703-7670704 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Deletion - Frameshift |
c.773A>T; p.E258V; 17:7674190-7674190 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.281C>A; p.S94*; 17:7676088-7676088 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.374C>T; p.T125M; 17:7675995-7675995 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.309C>A; p.Y103*; 17:7676060-7676060 |
breast | carcinoma | Substitution - Nonsense |
c.773A>T; p.E258V; 17:7674190-7674190 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1005_1006delTG; p.E336fs*10; 17:7670703-7670704 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Deletion - Frameshift |
c.1108A>C; p.K370Q; 17:7669683-7669683 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.374C>T; p.T125M; 17:7675995-7675995 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.280_281insGT; p.S94fs*30; 17:7676088-7676089 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.773A>T; p.E258V; 17:7674190-7674190 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.281C>A; p.S94*; 17:7676088-7676088 |
oesophagus | carcinoma | Substitution - Nonsense |
c.773A>T; p.E258V; 17:7674190-7674190 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.374C>T; p.T125M; 17:7675995-7675995 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.281C>A; p.S94*; 17:7676088-7676088 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.374C>T; p.T125M; 17:7675995-7675995 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.281C>A; p.S94*; 17:7676088-7676088 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.322delG; p.G108fs*15; 17:7676047-7676047 |
breast | carcinoma | Deletion - Frameshift |
c.920-6_928delTCCTAGCACTGCCCA; p.?; 17:7673600-7673614 |
breast | carcinoma; HER-positive_carcinoma | Unknown |
c.215C>G; p.P72R; 17:7676154-7676154 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.374C>T; p.T125M; 17:7675995-7675995 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.374C>T; p.T125M; 17:7675995-7675995 |
prostate | hyperplasia | Substitution - Missense |
c.215C>G; p.P72R; 17:7676154-7676154 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.374C>T; p.T125M; 17:7675995-7675995 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.374C>T; p.T125M; 17:7675995-7675995 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.773A>T; p.E258V; 17:7674190-7674190 |
testis | germ_cell_tumour; seminoma | Substitution - Missense |
c.309C>A; p.Y103*; 17:7676060-7676060 |
endometrium | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.374C>T; p.T125M; 17:7675995-7675995 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.773A>T; p.E258V; 17:7674190-7674190 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.374C>T; p.T125M; 17:7675995-7675995 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.773A>T; p.E258V; 17:7674190-7674190 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.374C>T; p.T125M; 17:7675995-7675995 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.773A>T; p.E258V; 17:7674190-7674190 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.451_463del13; p.P152fs*14; 17:7675149-7675161 |
urinary_tract; bladder | carcinoma | Deletion - Frameshift |
c.215C>G; p.P72R; 17:7676154-7676154 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.374C>T; p.T125M; 17:7675995-7675995 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.374C>T; p.T125M; 17:7675995-7675995 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.281C>A; p.S94*; 17:7676088-7676088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.344delA; p.H115fs*8; 17:7676025-7676025 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.215C>G; p.P72R; 17:7676154-7676154 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.990_991insT; p.Q331fs*6; 17:7673537-7673538 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.632_633delCT; p.T211fs*4; 17:7674898-7674899 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.374C>T; p.T125M; 17:7675995-7675995 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.309C>A; p.Y103*; 17:7676060-7676060 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.374C>T; p.T125M; 17:7675995-7675995 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.215C>G; p.P72R; 17:7676154-7676154 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.374C>T; p.T125M; 17:7675995-7675995 |
liver | carcinoma | Substitution - Missense |
c.374C>T; p.T125M; 17:7675995-7675995 |
liver | carcinoma | Substitution - Missense |
c.773A>T; p.E258V; 17:7674190-7674190 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.374C>T; p.T125M; 17:7675995-7675995 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.104_105insT; p.L35fs*8; 17:7676264-7676265 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.742C>T; p.R248W; 17:7674221-7674221 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.673-2A>G; p.?; 17:7674292-7674292 |
breast | carcinoma | Unknown |
c.742C>T; p.R248W; 17:7674221-7674221 |
penis | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.496T>C; p.S166P; 17:7675116-7675116 |
prostate | hyperplasia | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Substitution - Missense |
c.419C>T; p.T140I; 17:7675193-7675193 |
liver | other; hepatoblastoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.419C>T; p.T140I; 17:7675193-7675193 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; thalamus | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.871_889del19; p.K291fs*48; 17:7673731-7673749 |
salivary_gland; submandibular | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.581T>C; p.L194P; 17:7674950-7674950 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; oligodendroglioma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.874_877delAAAG; p.K292fs*52; 17:7673743-7673746 |
breast | carcinoma | Deletion - Frameshift |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.871_889del19; p.K291fs*48; 17:7673731-7673749 |
upper_aerodigestive_tract; mouth | other; leukoplakia-hyperplakia-erythroplakia | Deletion - Frameshift |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.128delT; p.L43fs*1; 17:7676241-7676241 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.742C>T; p.R248W; 17:7674221-7674221 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
lung | carcinoma; pleomorphic_carcinoma | Substitution - Missense |
c.673-2A>G; p.?; 17:7674292-7674292 |
pancreas | carcinoma | Unknown |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
endometrium | carcinoma; mixed_cell_carcinoma | Substitution - Missense |
c.871_889del19; p.K291fs*48; 17:7673731-7673749 |
upper_aerodigestive_tract; mouth | other; leukoplakia-hyperplakia-erythroplakia | Deletion - Frameshift |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.846G>C; p.R282R; 17:7673774-7673774 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin; head_neck | carcinoma; Merkel_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.904_908delGGGAG; p.G302fs*2; 17:7673712-7673716 |
breast | carcinoma | Deletion - Frameshift |
c.359_369del11; p.K120fs*25; 17:7676000-7676010 |
stomach | carcinoma; diffuse_adenocarcinoma | Deletion - Frameshift |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.871_889del19; p.K291fs*48; 17:7673731-7673749 |
upper_aerodigestive_tract; mouth | other; leukoplakia-hyperplakia-erythroplakia | Deletion - Frameshift |
c.742C>T; p.R248W; 17:7674221-7674221 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.406C>G; p.Q136E; 17:7675206-7675206 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | hyperplasia | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.419C>T; p.T140I; 17:7675193-7675193 |
genital_tract; extragonadal | germ_cell_tumour; seminoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.873_874insTT; p.K292fs*54; 17:7673746-7673747 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.673-2A>G; p.?; 17:7674292-7674292 |
liver | carcinoma | Unknown |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.871_889del19; p.K291fs*48; 17:7673731-7673749 |
upper_aerodigestive_tract; mouth | other; leukoplakia-hyperplakia-erythroplakia | Deletion - Frameshift |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.673-2A>G; p.?; 17:7674292-7674292 |
breast | carcinoma | Unknown |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
pleura | mesothelioma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.419C>T; p.T140I; 17:7675193-7675193 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.751A>G; p.I251V; 17:7674212-7674212 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.406C>G; p.Q136E; 17:7675206-7675206 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.406C>G; p.Q136E; 17:7675206-7675206 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; classic | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.399G>T; p.M133I; 17:7675213-7675213 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin; arm | other; keratosis | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | other; neoplasm | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.692C>T; p.T231I; 17:7674271-7674271 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
soft_tissue | sarcoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.1066G>T; p.G356W; 17:7670643-7670643 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.689C>T; p.T230I; 17:7674274-7674274 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.806_807ins12; p.S269>XXXXX; 17:7673813-7673814 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Complex - insertion inframe |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.871_889del19; p.K291fs*48; 17:7673731-7673749 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.581T>C; p.L194P; 17:7674950-7674950 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.673-2A>G; p.?; 17:7674292-7674292 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Unknown |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.740A>C; p.N247T; 17:7674223-7674223 |
skin | malignant_melanoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin | malignant_melanoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
prostate | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.775_776insN; p.D259fs*5; 17:7674187-7674188 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1066G>T; p.G356W; 17:7670643-7670643 |
endometrium | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma | Substitution - Missense |
c.673-2A>G; p.?; 17:7674292-7674292 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
endometrium | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.406C>G; p.Q136E; 17:7675206-7675206 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.751A>G; p.I251V; 17:7674212-7674212 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin | malignant_melanoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_essential_thrombocythaemia | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.740A>C; p.N247T; 17:7674223-7674223 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin; trunk | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.496T>C; p.S166P; 17:7675116-7675116 |
salivary_gland; major | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.689C>T; p.T230I; 17:7674274-7674274 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
endometrium | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma | Substitution - Missense |
c.778T>G; p.S260A; 17:7674185-7674185 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.560-24T>G; p.?; 17:7674995-7674995 |
large_intestine; rectum | carcinoma; adenocarcinoma | Unknown |
c.496T>C; p.S166P; 17:7675116-7675116 |
salivary_gland; major | adenoma; pleomorphic | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.890A>C; p.H297P; 17:7673730-7673730 |
cervix | in_situ_neoplasm; cervical_intraepithelial_neoplasia_Grade_III | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; mucinous_adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
pancreas | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.740A>C; p.N247T; 17:7674223-7674223 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
prostate | carcinoma | Substitution - Missense |
c.631_632delAC; p.T211fs*4; 17:7674899-7674900 |
breast | carcinoma | Deletion - Frameshift |
c.638G>A; p.R213Q; 17:7674893-7674893 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.673-2A>G; p.?; 17:7674292-7674292 |
pancreas | carcinoma | Unknown |
c.742C>T; p.R248W; 17:7674221-7674221 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.771_772GG>AA; p.E258K; 17:7674191-7674192 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.673-2A>G; p.?; 17:7674292-7674292 |
lung | carcinoma; adenocarcinoma | Unknown |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.689C>T; p.T230I; 17:7674274-7674274 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.128delT; p.L43fs*1; 17:7676241-7676241 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.399G>T; p.M133I; 17:7675213-7675213 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.775_776insN; p.D259fs*5; 17:7674187-7674188 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.406C>G; p.Q136E; 17:7675206-7675206 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.379_380insC; p.A129fs*20; 17:7675232-7675233 |
prostate | carcinoma | Insertion - Frameshift |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; classic | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1045G>A; p.E349K; 17:7670664-7670664 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.673-2A>G; p.?; 17:7674292-7674292 |
lung | carcinoma; adenocarcinoma | Unknown |
c.673-2A>G; p.?; 17:7674292-7674292 |
breast | carcinoma | Unknown |
c.742C>T; p.R248W; 17:7674221-7674221 |
pancreas | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.496T>C; p.S166P; 17:7675116-7675116 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; classic | Substitution - Missense |
c.689C>T; p.T230I; 17:7674274-7674274 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.406C>G; p.Q136E; 17:7675206-7675206 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.752_754delTCC; p.L252delL; 17:7674209-7674211 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.740A>C; p.N247T; 17:7674223-7674223 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue; tonsil | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.778T>G; p.S260A; 17:7674185-7674185 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.581T>C; p.L194P; 17:7674950-7674950 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.640C>T; p.H214Y; 17:7674891-7674891 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.406C>G; p.Q136E; 17:7675206-7675206 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | other; neoplasm | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.640C>T; p.H214Y; 17:7674891-7674891 |
soft_tissue; fat | liposarcoma; myxoid-round_cell | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
bone | osteosarcoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
endometrium | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.907A>T; p.S303C; 17:7673713-7673713 |
prostate | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
thyroid | carcinoma; follicular_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.581T>C; p.L194P; 17:7674950-7674950 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.581T>C; p.L194P; 17:7674950-7674950 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.871_889del19; p.K291fs*48; 17:7673731-7673749 |
upper_aerodigestive_tract; mouth | other; leukoplakia-hyperplakia-erythroplakia | Deletion - Frameshift |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.419C>T; p.T140I; 17:7675193-7675193 |
skin; arm | other; keratosis | Substitution - Missense |
c.673-2A>G; p.?; 17:7674292-7674292 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Unknown |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
liver | other; hepatoblastoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
endometrium | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1045G>A; p.E349K; 17:7670664-7670664 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.640C>T; p.H214Y; 17:7674891-7674891 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin | malignant_melanoma | Substitution - Missense |
c.419C>T; p.T140I; 17:7675193-7675193 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
prostate | carcinoma | Substitution - Missense |
c.907A>T; p.S303C; 17:7673713-7673713 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.581T>C; p.L194P; 17:7674950-7674950 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.496T>C; p.S166P; 17:7675116-7675116 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.496T>C; p.S166P; 17:7675116-7675116 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.419C>T; p.T140I; 17:7675193-7675193 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.692C>T; p.T231I; 17:7674271-7674271 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
skin | malignant_melanoma | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma; mucinous_carcinoma | Substitution - Missense |
c.581T>C; p.L194P; 17:7674950-7674950 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
vulva | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
endometrium | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.419C>T; p.T140I; 17:7675193-7675193 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.640C>T; p.H214Y; 17:7674891-7674891 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.304_307delACCT; p.Y103fs*19; 17:7676062-7676065 |
prostate | carcinoma | Deletion - Frameshift |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.871_889del19; p.K291fs*48; 17:7673731-7673749 |
upper_aerodigestive_tract; mouth | other; leukoplakia-hyperplakia-erythroplakia | Deletion - Frameshift |
c.997delC; p.R333fs*12; 17:7670712-7670712 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.638G>A; p.R213Q; 17:7674893-7674893 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.692C>T; p.T231I; 17:7674271-7674271 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
thyroid | carcinoma | Substitution - Missense |
c.419C>T; p.T140I; 17:7675193-7675193 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.673-2A>G; p.?; 17:7674292-7674292 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Unknown |
c.640C>T; p.H214Y; 17:7674891-7674891 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; parietal_lobe | glioma; astrocytoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
pancreas | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.673-2A>G; p.?; 17:7674292-7674292 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin | malignant_melanoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.406C>G; p.Q136E; 17:7675206-7675206 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
lung; bronchus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
pancreas | carcinoma | Substitution - Missense |
c.581T>C; p.L194P; 17:7674950-7674950 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
lung | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.740A>C; p.N247T; 17:7674223-7674223 |
lung | other; pneumocytoma_(sclerosing_haemangioma) | Substitution - Missense |
c.689C>T; p.T230I; 17:7674274-7674274 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.689C>T; p.T230I; 17:7674274-7674274 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.419C>T; p.T140I; 17:7675193-7675193 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.782+24C>A; p.?; 17:7674157-7674157 |
lung | carcinoma; non_small_cell_carcinoma | Unknown |
c.689C>T; p.T230I; 17:7674274-7674274 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.673-2A>G; p.?; 17:7674292-7674292 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.733_734GG>TT; p.G245F; 17:7674229-7674230 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | other; neoplasm | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
skin | malignant_melanoma | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.689C>T; p.T230I; 17:7674274-7674274 |
soft_tissue | small_round_cell_tumour | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin | in_situ_epithelial_neoplasm; Bowen_disease | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
endometrium | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; cerebrum | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
cervix | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.638G>A; p.R213Q; 17:7674893-7674893 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.406C>G; p.Q136E; 17:7675206-7675206 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
stomach | carcinoma | Substitution - Missense |
c.846G>C; p.R282R; 17:7673774-7673774 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.567C>A; p.A189A; 17:7674964-7674964 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.742C>T; p.R248W; 17:7674221-7674221 |
pancreas | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.581T>C; p.L194P; 17:7674950-7674950 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
breast | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.419C>T; p.T140I; 17:7675193-7675193 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.689C>T; p.T230I; 17:7674274-7674274 |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.742C>T; p.R248W; 17:7674221-7674221 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.539A>G; p.E180G; 17:7675073-7675073 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1045G>T; p.E349*; 17:7670664-7670664 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.911C>T; p.T304I; 17:7673709-7673709 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.529C>A; p.P177T; 17:7675083-7675083 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.424C>G; p.P142A; 17:7675188-7675188 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.386C>A; p.A129D; 17:7675226-7675226 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour | Substitution - Missense |
c.1045G>T; p.E349*; 17:7670664-7670664 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.672G>T; p.E224D; 17:7674859-7674859 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1045G>T; p.E349*; 17:7670664-7670664 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1003_1004insA; p.R335fs*2; 17:7670705-7670706 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1045G>T; p.E349*; 17:7670664-7670664 |
endometrium | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.1045G>T; p.E349*; 17:7670664-7670664 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.389T>CCG; p.L130fs*41; 17:7675223-7675223 |
lung | carcinoma; adenocarcinoma | Complex - frameshift |
c.672G>T; p.E224D; 17:7674859-7674859 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010_1018delGCTTCGAGA; p.R337_M340>L; 17:7670691-7670699 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_II | Complex - deletion inframe |
c.560-2A>C; p.?; 17:7674973-7674973 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.560-2A>C; p.?; 17:7674973-7674973 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Unknown |
c.424C>G; p.P142A; 17:7675188-7675188 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.835G>C; p.G279R; 17:7673785-7673785 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.878G>T; p.G293V; 17:7673742-7673742 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1045G>T; p.E349*; 17:7670664-7670664 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.560-2A>C; p.?; 17:7674973-7674973 |
skin | malignant_melanoma | Unknown |
c.637C>G; p.R213G; 17:7674894-7674894 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1045G>T; p.E349*; 17:7670664-7670664 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1045G>T; p.E349*; 17:7670664-7670664 |
large_intestine; colon | adenoma | Substitution - Nonsense |
c.424delC; p.P142fs*28; 17:7675188-7675188 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.672G>T; p.E224D; 17:7674859-7674859 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.503delA; p.H168fs*2; 17:7675109-7675109 |
breast | carcinoma; HER-positive_carcinoma | Deletion - Frameshift |
c.97delT; p.S33fs*11; 17:7676272-7676272 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.672G>T; p.E224D; 17:7674859-7674859 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.450_455delACCCCC; p.P152_P153delPP; 17:7675157-7675162 |
breast | carcinoma; HER-positive_carcinoma | Deletion - In frame |
c.1011_1012insN; p.F338fs*9; 17:7670697-7670698 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.474C>G; p.R158R; 17:7675138-7675138 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1045G>T; p.E349*; 17:7670664-7670664 |
breast | carcinoma | Substitution - Nonsense |
c.1045G>T; p.E349*; 17:7670664-7670664 |
liver | carcinoma | Substitution - Nonsense |
c.530_531CC>AT; p.P177H; 17:7675081-7675082 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.1045G>T; p.E349*; 17:7670664-7670664 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.801_802ins13; p.N268fs*8; 17:7673818-7673819 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.429G>A; p.V143V; 17:7675183-7675183 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.319_321TAC>CAA; p.Y107Q; 17:7676048-7676050 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.672G>T; p.E224D; 17:7674859-7674859 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.424delC; p.P142fs*28; 17:7675188-7675188 |
lung | carcinoma; small_cell_carcinoma | Deletion - Frameshift |
c.661_665delGAGCC; p.E221fs*2; 17:7674866-7674870 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.637C>G; p.R213G; 17:7674894-7674894 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.494A>G; p.Q165R; 17:7675118-7675118 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.672G>T; p.E224D; 17:7674859-7674859 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.672G>T; p.E224D; 17:7674859-7674859 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1011_1012insN; p.F338fs*9; 17:7670697-7670698 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.429G>A; p.V143V; 17:7675183-7675183 |
breast | carcinoma | Substitution - coding silent |
c.492G>A; p.K164K; 17:7675120-7675120 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1045G>T; p.E349*; 17:7670664-7670664 |
liver | carcinoma | Substitution - Nonsense |
c.756_757insAT; p.T253fs*93; 17:7674206-7674207 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.1045G>T; p.E349*; 17:7670664-7670664 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.911C>T; p.T304I; 17:7673709-7673709 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.482_483insTGGCC; p.I162fs*10; 17:7675129-7675130 |
breast | carcinoma | Insertion - Frameshift |
c.672G>T; p.E224D; 17:7674859-7674859 |
bone | osteosarcoma | Substitution - Missense |
c.492G>A; p.K164K; 17:7675120-7675120 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.884C>G; p.P295R; 17:7673736-7673736 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.494A>G; p.Q165R; 17:7675118-7675118 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.841_843GAC>CGG; p.D281R; 17:7673777-7673779 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.375+1_375+18del18; p.?; 17:7675976-7675993 |
lung | carcinoma; adenocarcinoma | Unknown |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.338T>G; p.F113C; 17:7676031-7676031 |
ovary | carcinoma | Substitution - Missense |
c.894_895ins10; p.L299fs*10; 17:7673725-7673726 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Insertion - Frameshift |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.746G>C; p.R249T; 17:7674217-7674217 |
breast | carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.746G>C; p.R249T; 17:7674217-7674217 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
oesophagus | carcinoma | Substitution - Missense |
c.993+1G>T; p.?; 17:7673534-7673534 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Unknown |
c.746G>C; p.R249T; 17:7674217-7674217 |
breast | carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ | Substitution - Missense |
c.338T>G; p.F113C; 17:7676031-7676031 |
breast | carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.750_751insNNNNN; p.I251fs*96; 17:7674212-7674213 |
breast | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.338T>G; p.F113C; 17:7676031-7676031 |
ovary | carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.746G>C; p.R249T; 17:7674217-7674217 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.746G>C; p.R249T; 17:7674217-7674217 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.746G>C; p.R249T; 17:7674217-7674217 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
stomach | adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.746G>C; p.R249T; 17:7674217-7674217 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.461G>C; p.G154A; 17:7675151-7675151 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.338T>G; p.F113C; 17:7676031-7676031 |
breast | carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
skin | in_situ_epithelial_neoplasm; Bowen_disease | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
pancreas | carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
liver | other; hepatoblastoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.717_718insNNN; p.N239_S240insX; 17:7674245-7674246 |
oesophagus | carcinoma | Insertion - In frame |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.993+1G>T; p.?; 17:7673534-7673534 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.993+1G>T; p.?; 17:7673534-7673534 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.746G>C; p.R249T; 17:7674217-7674217 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
ovary | carcinoma | Substitution - Missense |
c.338T>G; p.F113C; 17:7676031-7676031 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.394_414del21; p.M133_K139delMFCQLAK; 17:7675198-7675218 |
urinary_tract; bladder | carcinoma | Deletion - In frame |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
ovary | other; neoplasm | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.901_909delCCAGGGAGC; p.P301_S303delPGS; 17:7673711-7673719 |
breast | carcinoma | Deletion - In frame |
c.993+1G>T; p.?; 17:7673534-7673534 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.404_405insC; p.Q136fs*13; 17:7675207-7675208 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Insertion - Frameshift |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.746G>C; p.R249T; 17:7674217-7674217 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
ovary | carcinoma | Substitution - Missense |
c.746G>C; p.R249T; 17:7674217-7674217 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.223delC; p.P75fs*48; 17:7676146-7676146 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.818G>T; p.R273L; 17:7673802-7673802 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.338T>G; p.F113C; 17:7676031-7676031 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.993+1G>T; p.?; 17:7673534-7673534 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.818G>T; p.R273L; 17:7673802-7673802 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.717_718insNNN; p.N239_S240insX; 17:7674245-7674246 |
ovary | carcinoma; endometrioid_carcinoma | Insertion - In frame |
c.818G>T; p.R273L; 17:7673802-7673802 |
pleura | pulmonary_blastoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.746G>C; p.R249T; 17:7674217-7674217 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.993+1G>T; p.?; 17:7673534-7673534 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
skin | in_situ_epithelial_neoplasm; Bowen_disease | Substitution - Missense |
c.993+1G>T; p.?; 17:7673534-7673534 |
breast | carcinoma | Unknown |
c.818G>T; p.R273L; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.993+1G>T; p.?; 17:7673534-7673534 |
breast | carcinoma | Unknown |
c.818G>T; p.R273L; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.542G>T; p.R181L; 17:7675070-7675070 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.746G>C; p.R249T; 17:7674217-7674217 |
skin | other; keloid | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.746G>C; p.R249T; 17:7674217-7674217 |
breast | carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.542G>T; p.R181L; 17:7675070-7675070 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.635T>A; p.F212Y; 17:7674896-7674896 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.812_815delAGGT; p.E271fs*73; 17:7673805-7673808 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Deletion - Frameshift |
c.818G>T; p.R273L; 17:7673802-7673802 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.106_142del37; p.P36fs*75; 17:7676227-7676263 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Deletion - Frameshift |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.338T>G; p.F113C; 17:7676031-7676031 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.746G>C; p.R249T; 17:7674217-7674217 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.542G>T; p.R181L; 17:7675070-7675070 |
breast | carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.791T>G; p.L264R; 17:7673829-7673829 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.777C>T; p.D259D; 17:7674186-7674186 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.818G>T; p.R273L; 17:7673802-7673802 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung; bronchus | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.543_544insN; p.C182fs*4; 17:7675068-7675069 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.818G>T; p.R273L; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.746G>C; p.R249T; 17:7674217-7674217 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.777C>T; p.D259D; 17:7674186-7674186 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - coding silent |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung; lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.746G>C; p.R249T; 17:7674217-7674217 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.747_748GC>TT; p.R249_P250>SS; 17:7674215-7674216 |
ovary | carcinoma; undifferentiated_carcinoma | Complex - compound substitution |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.715_717AAC>T; p.N239fs*1; 17:7674246-7674248 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Complex - frameshift |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.338T>G; p.F113C; 17:7676031-7676031 |
ovary | other; neoplasm | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.190C>A; p.P64T; 17:7676179-7676179 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.746G>C; p.R249T; 17:7674217-7674217 |
breast | carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.993+1G>T; p.?; 17:7673534-7673534 |
lung | carcinoma; adenocarcinoma | Unknown |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.746G>C; p.R249T; 17:7674217-7674217 |
ovary | carcinoma | Substitution - Missense |
c.746G>C; p.R249T; 17:7674217-7674217 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.894G>C; p.E298D; 17:7673726-7673726 |
central_nervous_system; cerebellum | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.746G>C; p.R249T; 17:7674217-7674217 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>T; p.R273L; 17:7673802-7673802 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.993+1G>T; p.?; 17:7673534-7673534 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.818G>T; p.R273L; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1100+30A>T; p.?; 17:7670579-7670579 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.818G>T; p.R273L; 17:7673802-7673802 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.744G>A; p.R248R; 17:7674219-7674219 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - coding silent |
c.150delT; p.I50fs*73; 17:7676219-7676219 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.140delC; p.P47fs*76; 17:7676229-7676229 |
lung | carcinoma; small_cell_carcinoma | Deletion - Frameshift |
c.925C>T; p.P309S; 17:7673603-7673603 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.449C>A; p.T150K; 17:7675163-7675163 |
lung | carcinoma | Substitution - Missense |
c.483C>T; p.A161A; 17:7675129-7675129 |
salivary_gland; major | carcinoma; mucoepidermoid_carcinoma | Substitution - coding silent |
c.925C>T; p.P309S; 17:7673603-7673603 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.560G>A; p.G187D; 17:7674971-7674971 |
stomach | carcinoma | Substitution - Missense |
c.784_786delGGT; p.G262delG; 17:7673834-7673836 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - In frame |
c.428T>A; p.V143E; 17:7675184-7675184 |
upper_aerodigestive_tract; head_neck | carcinoma | Substitution - Missense |
c.924G>C; p.L308L; 17:7673604-7673604 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.744G>A; p.R248R; 17:7674219-7674219 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1004G>T; p.R335L; 17:7670705-7670705 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.559+2T>G; p.?; 17:7675051-7675051 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.428T>A; p.V143E; 17:7675184-7675184 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1051A>G; p.K351E; 17:7670658-7670658 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; non_functioning | Substitution - Missense |
c.455delC; p.P152fs*18; 17:7675157-7675157 |
lung | carcinoma; small_cell_carcinoma | Deletion - Frameshift |
c.925C>T; p.P309S; 17:7673603-7673603 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.560G>A; p.G187D; 17:7674971-7674971 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.220delG; p.A74fs*49; 17:7676149-7676149 |
ovary | other; neoplasm | Deletion - Frameshift |
c.428T>A; p.V143E; 17:7675184-7675184 |
breast | carcinoma | Substitution - Missense |
c.140delC; p.P47fs*76; 17:7676229-7676229 |
stomach | carcinoma; diffuse_adenocarcinoma | Deletion - Frameshift |
c.455delC; p.P152fs*18; 17:7675157-7675157 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.559+2T>G; p.?; 17:7675051-7675051 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.936C>T; p.T312T; 17:7673592-7673592 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.455delC; p.P152fs*18; 17:7675157-7675157 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Deletion - Frameshift |
c.685T>G; p.C229G; 17:7674278-7674278 |
breast | carcinoma | Substitution - Missense |
c.136T>C; p.S46P; 17:7676233-7676233 |
skin | malignant_melanoma | Substitution - Missense |
c.805A>G; p.S269G; 17:7673815-7673815 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.582_583insN; p.I195fs*14; 17:7674948-7674949 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.868_878del11; p.R290fs*12; 17:7673742-7673752 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.459_460insNNN; p.P153_G154insX; 17:7675152-7675153 |
oesophagus | carcinoma; adenocarcinoma | Insertion - In frame |
c.428T>A; p.V143E; 17:7675184-7675184 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.816G>T; p.V272V; 17:7673804-7673804 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.351_352insG; p.T118fs*31; 17:7676017-7676018 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.706T>G; p.Y236D; 17:7674257-7674257 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.994-1G>A; p.?; 17:7670716-7670716 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.418_419insN; p.T140fs*9; 17:7675193-7675194 |
skin | other; keloid | Insertion - Frameshift |
c.560G>A; p.G187D; 17:7674971-7674971 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.805A>G; p.S269G; 17:7673815-7673815 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.805A>G; p.S269G; 17:7673815-7673815 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.140delC; p.P47fs*76; 17:7676229-7676229 |
skin; back | malignant_melanoma | Deletion - Frameshift |
c.559+13_559+14delGG; p.?; 17:7675039-7675040 |
central_nervous_system; brain | glioma; astrocytoma_Grade_I | Unknown |
c.560G>A; p.G187D; 17:7674971-7674971 |
lung | carcinoid-endocrine_tumour; atypical | Substitution - Missense |
c.706T>G; p.Y236D; 17:7674257-7674257 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.1051A>G; p.K351E; 17:7670658-7670658 |
skin; abdomen | malignant_melanoma | Substitution - Missense |
c.455delC; p.P152fs*18; 17:7675157-7675157 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.706T>G; p.Y236D; 17:7674257-7674257 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.780_781ins200; p.S261fs*151; 17:7674182-7674183 |
upper_aerodigestive_tract; head_neck | carcinoma | Insertion - Frameshift |
c.647_672+3del29; p.?; 17:7674856-7674884 |
endometrium | carcinoma; serous_carcinoma | Unknown |
c.560G>A; p.G187D; 17:7674971-7674971 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.136T>C; p.S46P; 17:7676233-7676233 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.744G>A; p.R248R; 17:7674219-7674219 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.560G>A; p.G187D; 17:7674971-7674971 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.483C>T; p.A161A; 17:7675129-7675129 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.559+2T>G; p.?; 17:7675051-7675051 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.835_856del22; p.G279fs*59; 17:7673764-7673785 |
ovary | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.925C>T; p.P309S; 17:7673603-7673603 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.925C>T; p.P309S; 17:7673603-7673603 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.559+2T>G; p.?; 17:7675051-7675051 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.744G>A; p.R248R; 17:7674219-7674219 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - coding silent |
c.455delC; p.P152fs*18; 17:7675157-7675157 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Deletion - Frameshift |
c.423_424insN; p.P142fs*7; 17:7675188-7675189 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Insertion - Frameshift |
c.706T>G; p.Y236D; 17:7674257-7674257 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.784_786delGGT; p.G262delG; 17:7673834-7673836 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.559+2T>G; p.?; 17:7675051-7675051 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.483C>T; p.A161A; 17:7675129-7675129 |
breast | carcinoma | Substitution - coding silent |
c.1033delA; p.N345fs*25; 17:7670676-7670676 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.159G>C; p.W53C; 17:7676210-7676210 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.455delC; p.P152fs*18; 17:7675157-7675157 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.552_553delTA; p.D184fs*24; 17:7675059-7675060 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Deletion - Frameshift |
c.560G>A; p.G187D; 17:7674971-7674971 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.759_767delCATCATCAC; p.I254_T256delIIT; 17:7674196-7674204 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.334_348del15; p.F113_G117delFLHSG; 17:7676021-7676035 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - In frame |
c.706T>G; p.Y236D; 17:7674257-7674257 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.706T>G; p.Y236D; 17:7674257-7674257 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.744G>A; p.R248R; 17:7674219-7674219 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.706T>G; p.Y236D; 17:7674257-7674257 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.483C>T; p.A161A; 17:7675129-7675129 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.483C>T; p.A161A; 17:7675129-7675129 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - coding silent |
c.455delC; p.P152fs*18; 17:7675157-7675157 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.140delC; p.P47fs*76; 17:7676229-7676229 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.428T>A; p.V143E; 17:7675184-7675184 |
skin | malignant_melanoma | Substitution - Missense |
c.784_786delGGT; p.G262delG; 17:7673834-7673836 |
breast | carcinoma | Deletion - In frame |
c.1033delA; p.N345fs*25; 17:7670676-7670676 |
ovary | carcinoma | Deletion - Frameshift |
c.428T>A; p.V143E; 17:7675184-7675184 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.431A>C; p.Q144P; 17:7675181-7675181 |
breast | carcinoma | Substitution - Missense |
c.534_535CC>TT; p.H179Y; 17:7675077-7675078 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.534_535CC>TT; p.H179Y; 17:7675077-7675078 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.869G>A; p.R290H; 17:7673751-7673751 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
breast | carcinoma | Substitution - Missense |
c.97-1G>A; p.?; 17:7676273-7676273 |
pancreas | carcinoma; ductal_carcinoma | Unknown |
c.476C>T; p.A159V; 17:7675136-7675136 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.228_229insTGCA; p.P77fs*73; 17:7676140-7676141 |
breast | carcinoma | Insertion - Frameshift |
c.405C>G; p.C135W; 17:7675207-7675207 |
stomach | adenocarcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.405C>G; p.C135W; 17:7675207-7675207 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.405C>G; p.C135W; 17:7675207-7675207 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
prostate | carcinoma | Substitution - Missense |
c.97-1G>A; p.?; 17:7676273-7676273 |
large_intestine; rectum | carcinoma; adenocarcinoma | Unknown |
c.635_636delTT; p.F212fs*3; 17:7674895-7674896 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.405C>G; p.C135W; 17:7675207-7675207 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
ovary | carcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.405C>G; p.C135W; 17:7675207-7675207 |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_III | Substitution - Missense |
c.869G>A; p.R290H; 17:7673751-7673751 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.534_535CC>TT; p.H179Y; 17:7675077-7675078 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.869G>A; p.R290H; 17:7673751-7673751 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.644G>C; p.S215T; 17:7674887-7674887 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.530_531CC>TT; p.P177L; 17:7675081-7675082 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.869G>A; p.R290H; 17:7673751-7673751 |
central_nervous_system; frontal_lobe | glioma; astrocytoma | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.412delG; p.A138fs*32; 17:7675200-7675200 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.869G>A; p.R290H; 17:7673751-7673751 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.869G>A; p.R290H; 17:7673751-7673751 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.869G>A; p.R290H; 17:7673751-7673751 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.405C>G; p.C135W; 17:7675207-7675207 |
breast | carcinoma | Substitution - Missense |
c.869G>A; p.R290H; 17:7673751-7673751 |
skin | malignant_melanoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.869G>A; p.R290H; 17:7673751-7673751 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.635_636delTT; p.F212fs*3; 17:7674895-7674896 |
oesophagus | carcinoma | Deletion - Frameshift |
c.715delA; p.N239fs*8; 17:7674248-7674248 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.745A>T; p.R249W; 17:7674218-7674218 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.405C>G; p.C135W; 17:7675207-7675207 |
ovary | carcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.715delA; p.N239fs*8; 17:7674248-7674248 |
oesophagus | carcinoma | Deletion - Frameshift |
c.97-1G>A; p.?; 17:7676273-7676273 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.476C>T; p.A159V; 17:7675136-7675136 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.241A>T; p.T81S; 17:7676128-7676128 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.644G>C; p.S215T; 17:7674887-7674887 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.869G>A; p.R290H; 17:7673751-7673751 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.668C>G; p.P223R; 17:7674863-7674863 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.405C>G; p.C135W; 17:7675207-7675207 |
ovary | other; neoplasm | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.405C>G; p.C135W; 17:7675207-7675207 |
prostate | adenoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.869G>A; p.R290H; 17:7673751-7673751 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.869G>A; p.R290H; 17:7673751-7673751 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
pancreas | carcinoma | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
oesophagus | carcinoma | Substitution - Missense |
c.97-1G>A; p.?; 17:7676273-7676273 |
central_nervous_system; brain | glioma; astrocytoma_Grade_I | Unknown |
c.745A>T; p.R249W; 17:7674218-7674218 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.97-1G>A; p.?; 17:7676273-7676273 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.476C>T; p.A159V; 17:7675136-7675136 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
skin; head_neck | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.635_636delTT; p.F212fs*3; 17:7674895-7674896 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Deletion - Frameshift |
c.869G>A; p.R290H; 17:7673751-7673751 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.97-1G>A; p.?; 17:7676273-7676273 |
pancreas | carcinoma | Unknown |
c.476C>T; p.A159V; 17:7675136-7675136 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.869G>A; p.R290H; 17:7673751-7673751 |
skin | malignant_melanoma; nodular | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.280T>C; p.S94P; 17:7676089-7676089 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.431A>C; p.Q144P; 17:7675181-7675181 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.431A>C; p.Q144P; 17:7675181-7675181 |
liver | carcinoma | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.644G>C; p.S215T; 17:7674887-7674887 |
oesophagus | carcinoma | Substitution - Missense |
c.992_993AG>CA; p.Q331P; 17:7673535-7673536 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.869G>A; p.R290H; 17:7673751-7673751 |
stomach | carcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.869G>A; p.R290H; 17:7673751-7673751 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.405C>G; p.C135W; 17:7675207-7675207 |
breast | carcinoma | Substitution - Missense |
c.405C>G; p.C135W; 17:7675207-7675207 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
breast | carcinoma | Substitution - Missense |
c.405C>G; p.C135W; 17:7675207-7675207 |
ovary | carcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
oesophagus | carcinoma | Substitution - Missense |
c.375+3C>T; p.?; 17:7675991-7675991 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm | Unknown |
c.745A>T; p.R249W; 17:7674218-7674218 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
liver | carcinoma | Substitution - Missense |
c.534_535CC>TT; p.H179Y; 17:7675077-7675078 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.412delG; p.A138fs*32; 17:7675200-7675200 |
prostate | carcinoma | Deletion - Frameshift |
c.431A>C; p.Q144P; 17:7675181-7675181 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.672+31A>G; p.?; 17:7674828-7674828 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Unknown |
c.559+4A>C; p.?; 17:7675049-7675049 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.431A>C; p.Q144P; 17:7675181-7675181 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.534_535CC>TT; p.H179Y; 17:7675077-7675078 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.644G>C; p.S215T; 17:7674887-7674887 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
breast | carcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.405C>G; p.C135W; 17:7675207-7675207 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.405C>G; p.C135W; 17:7675207-7675207 |
breast | carcinoma | Substitution - Missense |
c.869G>A; p.R290H; 17:7673751-7673751 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.869G>A; p.R290H; 17:7673751-7673751 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.405C>G; p.C135W; 17:7675207-7675207 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.534_535CC>TT; p.H179Y; 17:7675077-7675078 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
ovary | carcinoma; mixed_carcinoma | Substitution - Missense |
c.598A>G; p.N200D; 17:7674933-7674933 |
thymus | thymic_carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.534_535CC>TT; p.H179Y; 17:7675077-7675078 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
liver | carcinoma | Substitution - Missense |
c.1031T>C; p.L344P; 17:7670678-7670678 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.97-1G>A; p.?; 17:7676273-7676273 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.745A>T; p.R249W; 17:7674218-7674218 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.412delG; p.A138fs*32; 17:7675200-7675200 |
ovary | carcinoma | Deletion - Frameshift |
c.385G>A; p.A129T; 17:7675227-7675227 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.869G>A; p.R290H; 17:7673751-7673751 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.534_535CC>TT; p.H179Y; 17:7675077-7675078 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
skin; leg | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.869G>A; p.R290H; 17:7673751-7673751 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.598A>G; p.N200D; 17:7674933-7674933 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.131T>C; p.M44T; 17:7676238-7676238 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
stomach | carcinoma | Substitution - Missense |
c.635_636delTT; p.F212fs*3; 17:7674895-7674896 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.476C>T; p.A159V; 17:7675136-7675136 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1073A>T; p.E358V; 17:7670636-7670636 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_essential_thrombocythaemia | Substitution - Missense |
c.405C>G; p.C135W; 17:7675207-7675207 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.405C>G; p.C135W; 17:7675207-7675207 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
breast | other; neoplasm | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.405C>G; p.C135W; 17:7675207-7675207 |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_III | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.97-1G>A; p.?; 17:7676273-7676273 |
large_intestine; rectum | NS | Unknown |
c.714T>C; p.C238C; 17:7674249-7674249 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - coding silent |
c.476C>T; p.A159V; 17:7675136-7675136 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.668C>G; p.P223R; 17:7674863-7674863 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - Missense |
c.405C>G; p.C135W; 17:7675207-7675207 |
breast | carcinoma | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Substitution - Missense |
c.385G>A; p.A129T; 17:7675227-7675227 |
breast | carcinoma | Substitution - Missense |
c.745A>T; p.R249W; 17:7674218-7674218 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.635_636delTT; p.F212fs*3; 17:7674895-7674896 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.745A>T; p.R249W; 17:7674218-7674218 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.97-1G>A; p.?; 17:7676273-7676273 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.486_487insC; p.Y163fs*18; 17:7675125-7675126 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.412delG; p.A138fs*32; 17:7675200-7675200 |
skin | benign_melanocytic_nevus; dysplastic | Deletion - Frameshift |
c.318_318delC; p.Y107fs*16; 17:7676051-7676051 |
bone; femur | chondrosarcoma; dedifferentiated | Deletion - Frameshift |
c.1031T>C; p.L344P; 17:7670678-7670678 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.405C>G; p.C135W; 17:7675207-7675207 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.241A>T; p.T81S; 17:7676128-7676128 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.405C>G; p.C135W; 17:7675207-7675207 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.476C>T; p.A159V; 17:7675136-7675136 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.329_331delGTC; p.R110delR; 17:7676038-7676040 |
breast | carcinoma | Deletion - In frame |
c.992_993AG>CA; p.Q331P; 17:7673535-7673536 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.405C>G; p.C135W; 17:7675207-7675207 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.405C>G; p.C135W; 17:7675207-7675207 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.534_535CC>TT; p.H179Y; 17:7675077-7675078 |
skin; head_neck | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.412delG; p.A138fs*32; 17:7675200-7675200 |
ovary | carcinoma | Deletion - Frameshift |
c.97-1G>A; p.?; 17:7676273-7676273 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.405C>G; p.C135W; 17:7675207-7675207 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.375+15G>A; p.?; 17:7675979-7675979 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Unknown |
c.657C>A; p.P219P; 17:7674874-7674874 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.782+24C>G; p.?; 17:7674157-7674157 |
urinary_tract; bladder | carcinoma | Unknown |
c.589G>A; p.V197M; 17:7674942-7674942 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.324T>C; p.G108G; 17:7676045-7676045 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.871A>T; p.K291*; 17:7673749-7673749 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.495_496insN; p.S166fs*15; 17:7675116-7675117 |
cervix | carcinoma; endocervical_adenocarcinoma | Insertion - Frameshift |
c.105G>T; p.L35F; 17:7676264-7676264 |
pancreas | carcinoma | Substitution - Missense |
c.871A>T; p.K291*; 17:7673749-7673749 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.868C>A; p.R290S; 17:7673752-7673752 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.652G>T; p.V218L; 17:7674879-7674879 |
oesophagus | carcinoma | Substitution - Missense |
c.620_621insN; p.D207fs*2; 17:7674910-7674911 |
liver | carcinoma; hepatocellular_carcinoma | Insertion - Frameshift |
c.669T>C; p.P223P; 17:7674862-7674862 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Substitution - coding silent |
c.876_877insN; p.G293fs*13; 17:7673743-7673744 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.868C>A; p.R290S; 17:7673752-7673752 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.589G>A; p.V197M; 17:7674942-7674942 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.589G>A; p.V197M; 17:7674942-7674942 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; MALT_lymphoma | Substitution - Missense |
c.883C>T; p.P295S; 17:7673737-7673737 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.140C>T; p.P47L; 17:7676229-7676229 |
breast | carcinoma | Substitution - Missense |
c.361T>C; p.S121P; 17:7676008-7676008 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.610delG; p.E204fs*43; 17:7674921-7674921 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.589G>A; p.V197M; 17:7674942-7674942 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.140C>T; p.P47L; 17:7676229-7676229 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.589G>A; p.V197M; 17:7674942-7674942 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.813_814insN; p.V272fs*34; 17:7673806-7673807 |
liver | carcinoma; hepatocellular_carcinoma | Insertion - Frameshift |
c.673-8T>A; p.?; 17:7674298-7674298 |
skin | carcinoma; basal_cell_carcinoma | Unknown |
c.589G>A; p.V197M; 17:7674942-7674942 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.589G>A; p.V197M; 17:7674942-7674942 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.589G>A; p.V197M; 17:7674942-7674942 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.610delG; p.E204fs*43; 17:7674921-7674921 |
breast | carcinoma | Deletion - Frameshift |
c.690C>A; p.T230T; 17:7674273-7674273 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.876_877insN; p.G293fs*13; 17:7673743-7673744 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.716_717insA; p.N239fs*25; 17:7674246-7674247 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.589G>A; p.V197M; 17:7674942-7674942 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.657C>A; p.P219P; 17:7674874-7674874 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.883C>T; p.P295S; 17:7673737-7673737 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.589G>A; p.V197M; 17:7674942-7674942 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.559+4A>T; p.?; 17:7675049-7675049 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.669T>C; p.P223P; 17:7674862-7674862 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Substitution - coding silent |
c.491_494delAGCA; p.K164fs*5; 17:7675118-7675121 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.871A>T; p.K291*; 17:7673749-7673749 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.495_496insN; p.S166fs*15; 17:7675116-7675117 |
ovary | carcinoma | Insertion - Frameshift |
c.589G>A; p.V197M; 17:7674942-7674942 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.871A>T; p.K291*; 17:7673749-7673749 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.324T>C; p.G108G; 17:7676045-7676045 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.1014_1016delCGA; p.F338_E339>L; 17:7670693-7670695 |
pancreas | NS | Unknown |
c.105G>T; p.L35F; 17:7676264-7676264 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.871A>T; p.K291*; 17:7673749-7673749 |
ovary | other; neoplasm | Substitution - Nonsense |
c.876_877insN; p.G293fs*13; 17:7673743-7673744 |
kidney | carcinoma; chromophobe_renal_cell_carcinoma | Insertion - Frameshift |
c.491_494delAGCA; p.K164fs*5; 17:7675118-7675121 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.871A>T; p.K291*; 17:7673749-7673749 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.871A>T; p.K291*; 17:7673749-7673749 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.610delG; p.E204fs*43; 17:7674921-7674921 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.589G>A; p.V197M; 17:7674942-7674942 |
oesophagus | carcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
soft_tissue | small_round_cell_tumour | Substitution - Missense |
c.452C>A; p.P151H; 17:7675160-7675160 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.452C>A; p.P151H; 17:7675160-7675160 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Missense |
c.452C>A; p.P151H; 17:7675160-7675160 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.400delT; p.C135fs*35; 17:7675212-7675212 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.920-2A>G; p.?; 17:7673610-7673610 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.534_538delCCATG; p.H178fs*6; 17:7675074-7675078 |
pancreas | NS | Deletion - Frameshift |
c.400delT; p.C135fs*35; 17:7675212-7675212 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.920-2A>G; p.?; 17:7673610-7673610 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.452C>A; p.P151H; 17:7675160-7675160 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
endometrium | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.452C>A; p.P151H; 17:7675160-7675160 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.405C>A; p.C135*; 17:7675207-7675207 |
prostate | carcinoma | Substitution - Nonsense |
c.452C>A; p.P151H; 17:7675160-7675160 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.920-2A>G; p.?; 17:7673610-7673610 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.920-2A>G; p.?; 17:7673610-7673610 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.772G>A; p.E258K; 17:7674191-7674191 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.375+1delG; p.?; 17:7675993-7675993 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.452C>A; p.P151H; 17:7675160-7675160 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.572C>A; p.P191H; 17:7674959-7674959 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.920-2A>G; p.?; 17:7673610-7673610 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.772G>A; p.E258K; 17:7674191-7674191 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.405C>A; p.C135*; 17:7675207-7675207 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.452C>A; p.P151H; 17:7675160-7675160 |
breast | carcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.633_634insN; p.F212fs*4; 17:7674897-7674898 |
thyroid | carcinoma; papillary_carcinoma | Insertion - Frameshift |
c.920-2A>G; p.?; 17:7673610-7673610 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.405C>A; p.C135*; 17:7675207-7675207 |
prostate | carcinoma | Substitution - Nonsense |
c.452C>A; p.P151H; 17:7675160-7675160 |
breast | carcinoma | Substitution - Missense |
c.158_159insAATG; p.W53fs*1; 17:7676210-7676211 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.452C>A; p.P151H; 17:7675160-7675160 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.920-2A>G; p.?; 17:7673610-7673610 |
ovary | carcinoma | Unknown |
c.920-2A>G; p.?; 17:7673610-7673610 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.772G>A; p.E258K; 17:7674191-7674191 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.452C>A; p.P151H; 17:7675160-7675160 |
breast | carcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
skin; arm | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.452C>A; p.P151H; 17:7675160-7675160 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.920-2A>G; p.?; 17:7673610-7673610 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Unknown |
c.772G>A; p.E258K; 17:7674191-7674191 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.452C>A; p.P151H; 17:7675160-7675160 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.522G>A; p.R174R; 17:7675090-7675090 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.452C>A; p.P151H; 17:7675160-7675160 |
pancreas | carcinoma | Substitution - Missense |
c.452C>A; p.P151H; 17:7675160-7675160 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
breast | carcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
breast | carcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.452C>A; p.P151H; 17:7675160-7675160 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.920-2A>G; p.?; 17:7673610-7673610 |
lung | carcinoma; adenocarcinoma | Unknown |
c.772G>A; p.E258K; 17:7674191-7674191 |
urinary_tract; ureter | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.452C>A; p.P151H; 17:7675160-7675160 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.920-2A>G; p.?; 17:7673610-7673610 |
ovary | other; neoplasm | Unknown |
c.452C>A; p.P151H; 17:7675160-7675160 |
breast | carcinoma | Substitution - Missense |
c.452C>A; p.P151H; 17:7675160-7675160 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
urinary_tract | carcinoma | Substitution - Missense |
c.400delT; p.C135fs*35; 17:7675212-7675212 |
breast | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.772G>A; p.E258K; 17:7674191-7674191 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.400delT; p.C135fs*35; 17:7675212-7675212 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.920-2A>G; p.?; 17:7673610-7673610 |
ovary | other; neoplasm | Unknown |
c.772G>A; p.E258K; 17:7674191-7674191 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.405C>A; p.C135*; 17:7675207-7675207 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.772G>A; p.E258K; 17:7674191-7674191 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.522G>A; p.R174R; 17:7675090-7675090 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - coding silent |
c.405C>A; p.C135*; 17:7675207-7675207 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.400delT; p.C135fs*35; 17:7675212-7675212 |
breast | carcinoma | Deletion - Frameshift |
c.405C>A; p.C135*; 17:7675207-7675207 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.243_244insN; p.P82fs*67; 17:7676125-7676126 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.920-2A>G; p.?; 17:7673610-7673610 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.452C>A; p.P151H; 17:7675160-7675160 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.452C>A; p.P151H; 17:7675160-7675160 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.452C>A; p.P151H; 17:7675160-7675160 |
ovary | carcinoma | Substitution - Missense |
c.452C>A; p.P151H; 17:7675160-7675160 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.920-2A>G; p.?; 17:7673610-7673610 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.772G>A; p.E258K; 17:7674191-7674191 |
urinary_tract | carcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.452C>A; p.P151H; 17:7675160-7675160 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; MALT_lymphoma | Substitution - Missense |
c.452C>A; p.P151H; 17:7675160-7675160 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
thyroid | carcinoma | Substitution - Missense |
c.753_756delCCTC; p.L252fs*92; 17:7674207-7674210 |
urinary_tract; bladder | carcinoma | Deletion - Frameshift |
c.501_502GC>TG; p.Q167_H168>HD; 17:7675110-7675111 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Complex - compound substitution |
c.920-2A>G; p.?; 17:7673610-7673610 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.772G>A; p.E258K; 17:7674191-7674191 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.452C>A; p.P151H; 17:7675160-7675160 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.731_732GC>AA; p.G244E; 17:7674231-7674232 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.452C>A; p.P151H; 17:7675160-7675160 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.782+19C>G; p.?; 17:7674162-7674162 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.405C>A; p.C135*; 17:7675207-7675207 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.261A>T; p.P87P; 17:7676108-7676108 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.452C>A; p.P151H; 17:7675160-7675160 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.808_817del10; p.F270fs*72; 17:7673803-7673812 |
stomach | carcinoma | Deletion - Frameshift |
c.772G>A; p.E258K; 17:7674191-7674191 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.920-2A>G; p.?; 17:7673610-7673610 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.772G>A; p.E258K; 17:7674191-7674191 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.672_673insNNNNN; p.V225fs*24; 17:7674290-7674859 |
breast | carcinoma | Insertion - Frameshift |
c.405C>A; p.C135*; 17:7675207-7675207 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.772G>A; p.E258K; 17:7674191-7674191 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.920-2A>G; p.?; 17:7673610-7673610 |
pancreas | carcinoma | Unknown |
c.452C>A; p.P151H; 17:7675160-7675160 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.452C>A; p.P151H; 17:7675160-7675160 |
stomach | carcinoma; papillary_adenocarcinoma | Substitution - Missense |
c.920-2A>G; p.?; 17:7673610-7673610 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.375+1delG; p.?; 17:7675993-7675993 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.920-2A>G; p.?; 17:7673610-7673610 |
breast | carcinoma | Unknown |
c.772G>A; p.E258K; 17:7674191-7674191 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.920-2A>G; p.?; 17:7673610-7673610 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.772G>A; p.E258K; 17:7674191-7674191 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.224delC; p.P75fs*48; 17:7676145-7676145 |
NS | NS | Deletion - Frameshift |
c.772G>A; p.E258K; 17:7674191-7674191 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.772G>A; p.E258K; 17:7674191-7674191 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.400delT; p.C135fs*35; 17:7675212-7675212 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.920-2A>G; p.?; 17:7673610-7673610 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.482C>T; p.A161V; 17:7675130-7675130 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.410delT; p.L137fs*33; 17:7675202-7675202 |
liver | carcinoma | Deletion - Frameshift |
c.556G>C; p.D186H; 17:7675056-7675056 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.398T>C; p.M133T; 17:7675214-7675214 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm | Substitution - Missense |
c.402_403insN; p.C135fs*14; 17:7675209-7675210 |
pancreas | carcinoma | Insertion - Frameshift |
c.592delG; p.E198fs*49; 17:7674939-7674939 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.622G>A; p.D208N; 17:7674909-7674909 |
large_intestine; appendix | carcinoid-endocrine_tumour | Substitution - Missense |
c.398T>C; p.M133T; 17:7675214-7675214 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.73_78CTACTT>CTTTT; p.L26fs*18; 17:7676400-7676522 |
lung | carcinoma; adenocarcinoma | Complex - frameshift |
c.203_221>GGGAG; p.E68fs*76; 17:7676148-7676166 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Complex - frameshift |
c.556G>C; p.D186H; 17:7675056-7675056 |
breast | carcinoma | Substitution - Missense |
c.556G>C; p.D186H; 17:7675056-7675056 |
breast | carcinoma | Substitution - Missense |
c.571_573delCCT; p.P191delP; 17:7674958-7674960 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.848G>T; p.R283L; 17:7673772-7673772 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.571_573delCCT; p.P191delP; 17:7674958-7674960 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.848G>T; p.R283L; 17:7673772-7673772 |
ovary | carcinoma | Substitution - Missense |
c.482C>T; p.A161V; 17:7675130-7675130 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.622G>A; p.D208N; 17:7674909-7674909 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.710T>G; p.M237R; 17:7674253-7674253 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.556G>C; p.D186H; 17:7675056-7675056 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.482C>T; p.A161V; 17:7675130-7675130 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.482C>T; p.A161V; 17:7675130-7675130 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.398T>C; p.M133T; 17:7675214-7675214 |
stomach | adenocarcinoma | Substitution - Missense |
c.525_526insNN; p.C176fs*72; 17:7675086-7675087 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.398T>C; p.M133T; 17:7675214-7675214 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.482C>T; p.A161V; 17:7675130-7675130 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.482C>T; p.A161V; 17:7675130-7675130 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.848G>T; p.R283L; 17:7673772-7673772 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.398T>C; p.M133T; 17:7675214-7675214 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.482C>T; p.A161V; 17:7675130-7675130 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.254C>T; p.P85L; 17:7676115-7676115 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.342G>T; p.L114F; 17:7676027-7676027 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.710T>G; p.M237R; 17:7674253-7674253 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.848G>T; p.R283L; 17:7673772-7673772 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.553delA; p.S185fs*62; 17:7675059-7675059 |
stomach | carcinoma; tubular_adenocarcinoma | Deletion - Frameshift |
c.710T>G; p.M237R; 17:7674253-7674253 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.592delG; p.E198fs*49; 17:7674939-7674939 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.106_118del13; p.P36fs*4; 17:7676251-7676263 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.553delA; p.S185fs*62; 17:7675059-7675059 |
breast | carcinoma | Deletion - Frameshift |
c.610G>C; p.E204Q; 17:7674921-7674921 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.97-1_97insAG; p.L35fs*10; 17:7676272-7676273 |
large_intestine; rectum | carcinoma; adenocarcinoma | Unknown |
c.637_639CGA>TGG; p.R213W; 17:7674892-7674894 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.482C>T; p.A161V; 17:7675130-7675130 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.482C>T; p.A161V; 17:7675130-7675130 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.342G>T; p.L114F; 17:7676027-7676027 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.402T>A; p.F134L; 17:7675210-7675210 |
breast | carcinoma | Substitution - Missense |
c.838delA; p.R280fs*65; 17:7673782-7673782 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.833C>G; p.P278R; 17:7673787-7673787 |
stomach | carcinoma | Substitution - Missense |
c.527G>C; p.C176S; 17:7675085-7675085 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.658T>C; p.Y220H; 17:7674873-7674873 |
breast | carcinoma | Substitution - Missense |
c.820G>T; p.V274F; 17:7673800-7673800 |
pancreas | carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
upper_aerodigestive_tract; head_neck | carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>C; p.C176S; 17:7675085-7675085 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.527G>C; p.C176S; 17:7675085-7675085 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.820G>T; p.V274F; 17:7673800-7673800 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
pancreas | carcinoma | Substitution - Missense |
c.820G>T; p.V274F; 17:7673800-7673800 |
lung | carcinoma; pleomorphic_carcinoma | Substitution - Missense |
c.658T>C; p.Y220H; 17:7674873-7674873 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.783-10_803del31; p.?; 17:7673817-7673847 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.451C>T; p.P151S; 17:7675161-7675161 |
prostate | carcinoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.820G>T; p.V274F; 17:7673800-7673800 |
prostate | carcinoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
ovary | carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.681_682insT; p.D228fs*1; 17:7674281-7674282 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.820G>T; p.V274F; 17:7673800-7673800 |
liver | carcinoma | Substitution - Missense |
c.634delT; p.R213fs*34; 17:7674897-7674897 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - Frameshift |
c.789T>G; p.N263K; 17:7673831-7673831 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>C; p.C176S; 17:7675085-7675085 |
breast | carcinoma | Substitution - Missense |
c.820G>T; p.V274F; 17:7673800-7673800 |
lung | carcinoma; pleomorphic_carcinoma | Substitution - Missense |
c.657_668del12; p.Y220_P223delYEPP; 17:7674863-7674874 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.451C>T; p.P151S; 17:7675161-7675161 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.245C>T; p.P82L; 17:7676124-7676124 |
salivary_gland; parotid | adenoma; pleomorphic | Substitution - Missense |
c.776_777AC>TT; p.D259V; 17:7674186-7674187 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
oesophagus | carcinoma | Substitution - Missense |
c.527G>C; p.C176S; 17:7675085-7675085 |
pancreas | carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.901_902insN; p.P301fs*5; 17:7673718-7673719 |
oesophagus | carcinoma | Insertion - Frameshift |
c.451C>T; p.P151S; 17:7675161-7675161 |
stomach | adenocarcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.335_336insCCCA; p.F113fs*37; 17:7676033-7676034 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Insertion - Frameshift |
c.833C>G; p.P278R; 17:7673787-7673787 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_myelodysplastic_syndrome_therapy_related_NOS | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.820G>T; p.V274F; 17:7673800-7673800 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
breast | carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.658T>C; p.Y220H; 17:7674873-7674873 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
salivary_gland | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.658T>C; p.Y220H; 17:7674873-7674873 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.367_371delACTTG; p.T123fs*24; 17:7675998-7676002 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Deletion - Frameshift |
c.1022T>G; p.F341C; 17:7670687-7670687 |
prostate | carcinoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.820G>T; p.V274F; 17:7673800-7673800 |
liver | carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
oesophagus | carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
lung | carcinoma | Substitution - Missense |
c.820G>T; p.V274F; 17:7673800-7673800 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.328delC; p.R110fs*13; 17:7676041-7676041 |
breast | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.833C>G; p.P278R; 17:7673787-7673787 |
stomach | carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.658T>C; p.Y220H; 17:7674873-7674873 |
breast | carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.658T>C; p.Y220H; 17:7674873-7674873 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.328delC; p.R110fs*13; 17:7676041-7676041 |
breast | carcinoma | Deletion - Frameshift |
c.451C>T; p.P151S; 17:7675161-7675161 |
breast | carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.820G>T; p.V274F; 17:7673800-7673800 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.328delC; p.R110fs*13; 17:7676041-7676041 |
lung | carcinoma; large_cell_carcinoma | Deletion - Frameshift |
c.820G>T; p.V274F; 17:7673800-7673800 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
ovary | carcinoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.245C>T; p.P82L; 17:7676124-7676124 |
salivary_gland; parotid | adenoma; myoepithelial | Substitution - Missense |
c.820G>T; p.V274F; 17:7673800-7673800 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.328delC; p.R110fs*13; 17:7676041-7676041 |
NS | NS | Deletion - Frameshift |
c.527G>C; p.C176S; 17:7675085-7675085 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.820G>T; p.V274F; 17:7673800-7673800 |
prostate | carcinoma | Substitution - Missense |
c.658T>C; p.Y220H; 17:7674873-7674873 |
ovary | carcinoma | Substitution - Missense |
c.421_423TGC>GCG; p.C141A; 17:7675189-7675191 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
pancreas | carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
skin; head_neck | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.527G>C; p.C176S; 17:7675085-7675085 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.820G>A; p.V274I; 17:7673800-7673800 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.820G>T; p.V274F; 17:7673800-7673800 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.328delC; p.R110fs*13; 17:7676041-7676041 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.833C>G; p.P278R; 17:7673787-7673787 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.658T>C; p.Y220H; 17:7674873-7674873 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.820G>T; p.V274F; 17:7673800-7673800 |
pancreas | carcinoma | Substitution - Missense |
c.820G>A; p.V274I; 17:7673800-7673800 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
vulva | carcinoma | Substitution - Missense |
c.820G>T; p.V274F; 17:7673800-7673800 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.634delT; p.R213fs*34; 17:7674897-7674897 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.451C>T; p.P151S; 17:7675161-7675161 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
breast | carcinoma | Substitution - Missense |
c.634delT; p.R213fs*34; 17:7674897-7674897 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.451C>T; p.P151S; 17:7675161-7675161 |
breast | carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.352A>G; p.T118A; 17:7676017-7676017 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.634delT; p.R213fs*34; 17:7674897-7674897 |
ovary | carcinoma; clear_cell_carcinoma | Deletion - Frameshift |
c.245C>T; p.P82L; 17:7676124-7676124 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.820G>T; p.V274F; 17:7673800-7673800 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.819_833del15; p.V274_P278delVCACP; 17:7673787-7673801 |
breast | carcinoma; HER-positive_carcinoma | Deletion - In frame |
c.266C>T; p.P89L; 17:7676103-7676103 |
skin; arm | other; keratosis | Substitution - Missense |
c.658T>C; p.Y220H; 17:7674873-7674873 |
breast | carcinoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
breast | carcinoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.700_701delTA; p.Y234fs*5; 17:7674262-7674263 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.658T>C; p.Y220H; 17:7674873-7674873 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
stomach | carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.820G>T; p.V274F; 17:7673800-7673800 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.360G>T; p.K120N; 17:7676009-7676009 |
oesophagus | carcinoma | Substitution - Missense |
c.265delC; p.S90fs*33; 17:7676104-7676104 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.451C>T; p.P151S; 17:7675161-7675161 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
breast | carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
prostate | carcinoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
prostate | carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.634delT; p.R213fs*34; 17:7674897-7674897 |
lung | carcinoma; small_cell_carcinoma | Deletion - Frameshift |
c.833C>G; p.P278R; 17:7673787-7673787 |
ovary | other; neoplasm | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.820G>A; p.V274I; 17:7673800-7673800 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.527G>C; p.C176S; 17:7675085-7675085 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.245C>T; p.P82L; 17:7676124-7676124 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.784_806del23; p.G262fs*2; 17:7673814-7673836 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - Frameshift |
c.559+5G>C; p.?; 17:7675048-7675048 |
large_intestine | carcinoma; adenocarcinoma | Unknown |
c.820G>T; p.V274F; 17:7673800-7673800 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Missense |
c.178C>A; p.P60T; 17:7676191-7676191 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.658T>C; p.Y220H; 17:7674873-7674873 |
breast | carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
ovary | carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
pancreas | carcinoma | Substitution - Missense |
c.820G>T; p.V274F; 17:7673800-7673800 |
ovary | other; neoplasm | Substitution - Missense |
c.820G>T; p.V274F; 17:7673800-7673800 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.658T>C; p.Y220H; 17:7674873-7674873 |
breast | carcinoma | Substitution - Missense |
c.658T>C; p.Y220H; 17:7674873-7674873 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.245C>T; p.P82L; 17:7676124-7676124 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
ovary | carcinoma | Substitution - Missense |
c.527G>C; p.C176S; 17:7675085-7675085 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.820G>A; p.V274I; 17:7673800-7673800 |
breast | carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
breast | carcinoma | Substitution - Missense |
c.820G>T; p.V274F; 17:7673800-7673800 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.625_644del20; p.R209fs*6; 17:7674887-7674906 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.451C>T; p.P151S; 17:7675161-7675161 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.658T>C; p.Y220H; 17:7674873-7674873 |
breast | carcinoma | Substitution - Missense |
c.245C>T; p.P82L; 17:7676124-7676124 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.493C>G; p.Q165E; 17:7675119-7675119 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.820G>T; p.V274F; 17:7673800-7673800 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.820G>T; p.V274F; 17:7673800-7673800 |
breast | carcinoma | Substitution - Missense |
c.833C>G; p.P278R; 17:7673787-7673787 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.820G>T; p.V274F; 17:7673800-7673800 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.451C>T; p.P151S; 17:7675161-7675161 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.718_719delAG; p.S240fs*23; 17:7674244-7674245 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.517G>T; p.V173L; 17:7675095-7675095 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.520A>T; p.R174W; 17:7675092-7675092 |
pancreas | carcinoma | Substitution - Missense |
c.744G>C; p.R248R; 17:7674219-7674219 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.520A>T; p.R174W; 17:7675092-7675092 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.403T>G; p.C135G; 17:7675209-7675209 |
breast | carcinoma | Substitution - Missense |
c.666_667delGC; p.P223fs*1; 17:7674864-7674865 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.517G>T; p.V173L; 17:7675095-7675095 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1014C>T; p.F338F; 17:7670695-7670695 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.517G>T; p.V173L; 17:7675095-7675095 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.583_584insA; p.I195fs*14; 17:7674947-7674948 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.517G>T; p.V173L; 17:7675095-7675095 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.520A>T; p.R174W; 17:7675092-7675092 |
breast | carcinoma | Substitution - Missense |
c.520A>T; p.R174W; 17:7675092-7675092 |
breast | carcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.403T>G; p.C135G; 17:7675209-7675209 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
breast | carcinoma | Substitution - Missense |
c.853G>C; p.E285Q; 17:7673767-7673767 |
large_intestine; colon | adenoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1023_1024ins10; p.R342fs*3; 17:7670685-7670686 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.517G>T; p.V173L; 17:7675095-7675095 |
ovary | carcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.1100+1G>A; p.?; 17:7670608-7670608 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.517G>T; p.V173L; 17:7675095-7675095 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.936C>A; p.T312T; 17:7673592-7673592 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.517G>T; p.V173L; 17:7675095-7675095 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.520A>T; p.R174W; 17:7675092-7675092 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
central_nervous_system; frontal_lobe | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.514delG; p.V172fs*2; 17:7675098-7675098 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.517G>T; p.V173L; 17:7675095-7675095 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.530C>A; p.P177H; 17:7675082-7675082 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.175_176GG>AA; p.G59N; 17:7676193-7676194 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.919+6C>T; p.?; 17:7673695-7673695 |
central_nervous_system; brain | glioma; astrocytoma_Grade_I | Unknown |
c.517G>T; p.V173L; 17:7675095-7675095 |
breast | carcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.732_733ins10; p.G245fs*22; 17:7674230-7674231 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.517G>T; p.V173L; 17:7675095-7675095 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.520A>T; p.R174W; 17:7675092-7675092 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
oesophagus | carcinoma | Substitution - Missense |
c.1014C>T; p.F338F; 17:7670695-7670695 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.845delG; p.R283fs*62; 17:7673775-7673775 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.517G>T; p.V173L; 17:7675095-7675095 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.462_463insN; p.T155fs*26; 17:7675149-7675150 |
lung | carcinoma; non_small_cell_carcinoma | Insertion - Frameshift |
c.517G>T; p.V173L; 17:7675095-7675095 |
kidney | Wilms_tumour; bilateral | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.387_388insNNNNNN; p.A129_L130insXX; 17:7675224-7675225 |
breast | carcinoma | Insertion - In frame |
c.390_426del37; p.N131fs*27; 17:7675186-7675222 |
central_nervous_system; frontoparietal | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.403T>G; p.C135G; 17:7675209-7675209 |
breast | carcinoma | Substitution - Missense |
c.853G>C; p.E285Q; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.853G>C; p.E285Q; 17:7673767-7673767 |
skin; trunk | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.520A>T; p.R174W; 17:7675092-7675092 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
breast | carcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.530C>A; p.P177H; 17:7675082-7675082 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.403T>G; p.C135G; 17:7675209-7675209 |
penis | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.420C>T; p.T140T; 17:7675192-7675192 |
testis | germ_cell_tumour; seminoma | Substitution - coding silent |
c.456_457insNNNNNNNN; p.P153fs*20; 17:7675155-7675156 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.517G>T; p.V173L; 17:7675095-7675095 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.420C>T; p.T140T; 17:7675192-7675192 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - coding silent |
c.517G>T; p.V173L; 17:7675095-7675095 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.514delG; p.V172fs*2; 17:7675098-7675098 |
breast | carcinoma | Deletion - Frameshift |
c.420C>T; p.T140T; 17:7675192-7675192 |
testis | germ_cell_tumour; seminoma | Substitution - coding silent |
c.517G>T; p.V173L; 17:7675095-7675095 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.853G>C; p.E285Q; 17:7673767-7673767 |
large_intestine; rectum | adenoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.403T>G; p.C135G; 17:7675209-7675209 |
oesophagus | carcinoma | Substitution - Missense |
c.403T>G; p.C135G; 17:7675209-7675209 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.403T>G; p.C135G; 17:7675209-7675209 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.420C>T; p.T140T; 17:7675192-7675192 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - coding silent |
c.517G>T; p.V173L; 17:7675095-7675095 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.217_218insC; p.V73fs*76; 17:7676151-7676152 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Insertion - Frameshift |
c.420C>T; p.T140T; 17:7675192-7675192 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.520A>T; p.R174W; 17:7675092-7675092 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.307_322del16; p.Y103fs*15; 17:7676047-7676062 |
breast | carcinoma | Deletion - Frameshift |
c.517G>T; p.V173L; 17:7675095-7675095 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.520A>T; p.R174W; 17:7675092-7675092 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.744G>C; p.R248R; 17:7674219-7674219 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - coding silent |
c.255_264del10; p.A86fs*34; 17:7676105-7676114 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.514delG; p.V172fs*2; 17:7675098-7675098 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.686G>T; p.C229F; 17:7674277-7674277 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.420C>T; p.T140T; 17:7675192-7675192 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.517G>T; p.V173L; 17:7675095-7675095 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.520A>T; p.R174W; 17:7675092-7675092 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
breast | carcinoma | Substitution - Missense |
c.403T>G; p.C135G; 17:7675209-7675209 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
lung | carcinoma; blastoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.520A>T; p.R174W; 17:7675092-7675092 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.517G>T; p.V173L; 17:7675095-7675095 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.489delC; p.Y163fs*1; 17:7675123-7675123 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.450_451insN; p.P151fs*30; 17:7675161-7675162 |
lung | carcinoma; non_small_cell_carcinoma | Insertion - Frameshift |
c.714_715insNNNN; p.N239fs*26; 17:7674248-7674249 |
breast | carcinoma | Insertion - Frameshift |
c.720T>G; p.S240R; 17:7674243-7674243 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.376-10C>T; p.?; 17:7675246-7675246 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.795_796ins10; p.G266fs*9; 17:7673824-7673825 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.727delA; p.M243fs*4; 17:7674236-7674236 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.98delC; p.L35fs*9; 17:7676271-7676271 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.982_983insN; p.F328fs*9; 17:7673545-7673546 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.569C>G; p.P190R; 17:7674962-7674962 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.647T>A; p.V216E; 17:7674884-7674884 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.799C>G; p.R267G; 17:7673821-7673821 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.369delT; p.C124fs*46; 17:7676000-7676000 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.729G>C; p.M243I; 17:7674234-7674234 |
breast | carcinoma | Substitution - Missense |
c.450_451insN; p.P151fs*30; 17:7675161-7675162 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.572C>T; p.P191L; 17:7674959-7674959 |
skin | malignant_melanoma | Substitution - Missense |
c.80delC; p.P27fs*17; 17:7676398-7676398 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.501G>T; p.Q167H; 17:7675111-7675111 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.280delT; p.S94fs*29; 17:7676089-7676089 |
breast | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.80delC; p.P27fs*17; 17:7676398-7676398 |
pancreas | NS | Deletion - Frameshift |
c.569C>G; p.P190R; 17:7674962-7674962 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.450_451insN; p.P151fs*30; 17:7675161-7675162 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.647T>A; p.V216E; 17:7674884-7674884 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.712_714delTGT; p.C238delC; 17:7674249-7674251 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - In frame |
c.647T>A; p.V216E; 17:7674884-7674884 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.393C>T; p.N131N; 17:7675219-7675219 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.450_451insN; p.P151fs*30; 17:7675161-7675162 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.660delT; p.Y220fs*1; 17:7674871-7674871 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.496T>G; p.S166A; 17:7675116-7675116 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.663G>C; p.E221D; 17:7674868-7674868 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.647T>A; p.V216E; 17:7674884-7674884 |
ovary | carcinoma | Substitution - Missense |
c.80delC; p.P27fs*17; 17:7676398-7676398 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.569C>G; p.P190R; 17:7674962-7674962 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.559+5G>T; p.?; 17:7675048-7675048 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.480_481insNN; p.A161fs*10; 17:7675131-7675132 |
lung | carcinoma; non_small_cell_carcinoma | Insertion - Frameshift |
c.572C>T; p.P191L; 17:7674959-7674959 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.569C>G; p.P190R; 17:7674962-7674962 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.501G>T; p.Q167H; 17:7675111-7675111 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.713_714delGT; p.C238fs*1; 17:7674249-7674250 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.729G>C; p.M243I; 17:7674234-7674234 |
breast | carcinoma | Substitution - Missense |
c.487_495delTACAAGCAG; p.Y163_Q165delYKQ; 17:7675117-7675125 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - In frame |
c.572C>T; p.P191L; 17:7674959-7674959 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.196_203delATGCCAGA; p.M66fs*80; 17:7676166-7676173 |
ovary | other; neoplasm | Deletion - Frameshift |
c.727delA; p.M243fs*4; 17:7674236-7674236 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.450_451insN; p.P151fs*30; 17:7675161-7675162 |
stomach | carcinoma | Insertion - Frameshift |
c.496T>G; p.S166A; 17:7675116-7675116 |
skin | benign_melanocytic_nevus; dysplastic | Substitution - Missense |
c.441_442insNNNN; p.D148fs*34; 17:7675170-7675171 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.720T>G; p.S240R; 17:7674243-7674243 |
breast | carcinoma | Substitution - Missense |
c.337T>A; p.F113I; 17:7676032-7676032 |
pancreas | carcinoma | Substitution - Missense |
c.465_484del20; p.R156fs*18; 17:7675128-7675147 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.98delC; p.L35fs*9; 17:7676271-7676271 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.720T>G; p.S240R; 17:7674243-7674243 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.720T>G; p.S240R; 17:7674243-7674243 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.913A>T; p.K305*; 17:7673707-7673707 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.541C>T; p.R181C; 17:7675071-7675071 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.913A>T; p.K305*; 17:7673707-7673707 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.920-1G>A; p.?; 17:7673609-7673609 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.782+1G>C; p.?; 17:7674180-7674180 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.376-2A>G; p.?; 17:7675238-7675238 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.535C>G; p.H179D; 17:7675077-7675077 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.673-2A>T; p.?; 17:7674292-7674292 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.535C>G; p.H179D; 17:7675077-7675077 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.560_561delGT; p.G187fs*21; 17:7674970-7674971 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.541C>T; p.R181C; 17:7675071-7675071 |
small_intestine; duodenum | carcinoma; adenocarcinoma | Substitution - Missense |
c.541C>T; p.R181C; 17:7675071-7675071 |
breast | carcinoma | Substitution - Missense |
c.613T>C; p.Y205H; 17:7674918-7674918 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.622G>T; p.D208Y; 17:7674909-7674909 |
skin; trunk | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.559+1G>C; p.?; 17:7675052-7675052 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.613T>C; p.Y205H; 17:7674918-7674918 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.535C>G; p.H179D; 17:7675077-7675077 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.913A>T; p.K305*; 17:7673707-7673707 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.673-2A>T; p.?; 17:7674292-7674292 |
breast | carcinoma; ductal_carcinoma | Unknown |
c.376-2A>G; p.?; 17:7675238-7675238 |
pancreas | carcinoma | Unknown |
c.913A>T; p.K305*; 17:7673707-7673707 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.920-1G>A; p.?; 17:7673609-7673609 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.541C>T; p.R181C; 17:7675071-7675071 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.376-2A>G; p.?; 17:7675238-7675238 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.559+1G>C; p.?; 17:7675052-7675052 |
urinary_tract; bladder | carcinoma | Unknown |
c.541C>T; p.R181C; 17:7675071-7675071 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.491A>T; p.K164M; 17:7675121-7675121 |
breast | carcinoma | Substitution - Missense |
c.376-2A>G; p.?; 17:7675238-7675238 |
breast | carcinoma | Unknown |
c.913A>T; p.K305*; 17:7673707-7673707 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.376-2A>G; p.?; 17:7675238-7675238 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.541C>T; p.R181C; 17:7675071-7675071 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.376-2A>G; p.?; 17:7675238-7675238 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.541C>T; p.R181C; 17:7675071-7675071 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Substitution - Missense |
c.913A>T; p.K305*; 17:7673707-7673707 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.541C>T; p.R181C; 17:7675071-7675071 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.376-2A>G; p.?; 17:7675238-7675238 |
liver | carcinoma | Unknown |
c.541C>T; p.R181C; 17:7675071-7675071 |
lung | carcinoid-endocrine_tumour; atypical | Substitution - Missense |
c.950A>G; p.Q317R; 17:7673578-7673578 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.920-1G>A; p.?; 17:7673609-7673609 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.944C>G; p.S315C; 17:7673584-7673584 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.782+1G>C; p.?; 17:7674180-7674180 |
pancreas | carcinoma; ductal_carcinoma | Unknown |
c.535C>G; p.H179D; 17:7675077-7675077 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.376-2A>G; p.?; 17:7675238-7675238 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.920-1G>A; p.?; 17:7673609-7673609 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.535C>G; p.H179D; 17:7675077-7675077 |
kidney | Wilms_tumour | Substitution - Missense |
c.913A>T; p.K305*; 17:7673707-7673707 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.376-2A>G; p.?; 17:7675238-7675238 |
pancreas | carcinoma | Unknown |
c.874delA; p.E294fs*51; 17:7673746-7673746 |
breast | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.628A>C; p.N210H; 17:7674903-7674903 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.913A>T; p.K305*; 17:7673707-7673707 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.541C>T; p.R181C; 17:7675071-7675071 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.673-2A>T; p.?; 17:7674292-7674292 |
lung | carcinoma; non_small_cell_carcinoma | Unknown |
c.376-2A>G; p.?; 17:7675238-7675238 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.920-1G>A; p.?; 17:7673609-7673609 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.354_355insCA; p.A119fs*5; 17:7676014-7676015 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Insertion - Frameshift |
c.613T>C; p.Y205H; 17:7674918-7674918 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.913A>T; p.K305*; 17:7673707-7673707 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.920-1G>A; p.?; 17:7673609-7673609 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.491A>T; p.K164M; 17:7675121-7675121 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.601_642del42; p.L201_H214del; 17:7674889-7674930 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.541C>T; p.R181C; 17:7675071-7675071 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.920-1G>A; p.?; 17:7673609-7673609 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.376-2A>G; p.?; 17:7675238-7675238 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.782+1G>C; p.?; 17:7674180-7674180 |
oesophagus | carcinoma | Unknown |
c.920-1G>A; p.?; 17:7673609-7673609 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.673-2A>T; p.?; 17:7674292-7674292 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.754_759delCTCACC; p.L252_T253delLT; 17:7674204-7674209 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Deletion - In frame |
c.673-2A>T; p.?; 17:7674292-7674292 |
lung | carcinoma; adenocarcinoma | Unknown |
c.674T>C; p.V225A; 17:7674289-7674289 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.535C>G; p.H179D; 17:7675077-7675077 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.782+1G>C; p.?; 17:7674180-7674180 |
skin | malignant_melanoma | Unknown |
c.613T>C; p.Y205H; 17:7674918-7674918 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.376-2A>G; p.?; 17:7675238-7675238 |
liver | carcinoma | Unknown |
c.491A>T; p.K164M; 17:7675121-7675121 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.277delC; p.L93fs*30; 17:7676092-7676092 |
breast | carcinoma | Deletion - Frameshift |
c.541C>T; p.R181C; 17:7675071-7675071 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.913A>T; p.K305*; 17:7673707-7673707 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.376-2A>G; p.?; 17:7675238-7675238 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.541C>T; p.R181C; 17:7675071-7675071 |
bone; femur | chondrosarcoma | Substitution - Missense |
c.920-1G>A; p.?; 17:7673609-7673609 |
breast | carcinoma | Unknown |
c.376-2A>G; p.?; 17:7675238-7675238 |
ovary | carcinoma; undifferentiated_carcinoma | Unknown |
c.535C>G; p.H179D; 17:7675077-7675077 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.559+1G>C; p.?; 17:7675052-7675052 |
stomach | carcinoma; diffuse_adenocarcinoma | Unknown |
c.674T>C; p.V225A; 17:7674289-7674289 |
soft_tissue; fat | liposarcoma | Substitution - Missense |
c.376-2A>G; p.?; 17:7675238-7675238 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Unknown |
c.913A>T; p.K305*; 17:7673707-7673707 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.559+1G>C; p.?; 17:7675052-7675052 |
urinary_tract; bladder | carcinoma | Unknown |
c.613delT; p.Y205fs*42; 17:7674918-7674918 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.541C>T; p.R181C; 17:7675071-7675071 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.535C>G; p.H179D; 17:7675077-7675077 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.920-1G>A; p.?; 17:7673609-7673609 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.541C>T; p.R181C; 17:7675071-7675071 |
endometrium | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.926C>G; p.P309R; 17:7673602-7673602 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.376-2A>G; p.?; 17:7675238-7675238 |
ovary | carcinoma; endometrioid_carcinoma | Unknown |
c.673-2A>T; p.?; 17:7674292-7674292 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.258A>C; p.A86A; 17:7676111-7676111 |
breast | carcinoma | Substitution - coding silent |
c.376-2A>G; p.?; 17:7675238-7675238 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.913A>T; p.K305*; 17:7673707-7673707 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.541C>T; p.R181C; 17:7675071-7675071 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.535C>G; p.H179D; 17:7675077-7675077 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.874delA; p.E294fs*51; 17:7673746-7673746 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; Hodgkin_lymphoma | Deletion - Frameshift |
c.466_471delCGCGTC; p.V157_R158delVR; 17:7675141-7675146 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Deletion - In frame |
c.913A>T; p.K305*; 17:7673707-7673707 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.376-2A>G; p.?; 17:7675238-7675238 |
central_nervous_system; brain | glioma; oligodendroglioma | Unknown |
c.376-2A>G; p.?; 17:7675238-7675238 |
breast | carcinoma | Unknown |
c.950A>G; p.Q317R; 17:7673578-7673578 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.913A>T; p.K305*; 17:7673707-7673707 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.913A>T; p.K305*; 17:7673707-7673707 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.541C>T; p.R181C; 17:7675071-7675071 |
breast | carcinoma | Substitution - Missense |
c.535C>G; p.H179D; 17:7675077-7675077 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.920-1G>A; p.?; 17:7673609-7673609 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.491A>T; p.K164M; 17:7675121-7675121 |
stomach | carcinoma | Substitution - Missense |
c.613T>C; p.Y205H; 17:7674918-7674918 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.535C>G; p.H179D; 17:7675077-7675077 |
breast | carcinoma | Substitution - Missense |
c.613T>C; p.Y205H; 17:7674918-7674918 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.535C>G; p.H179D; 17:7675077-7675077 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.613T>C; p.Y205H; 17:7674918-7674918 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.535C>G; p.H179D; 17:7675077-7675077 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.950A>G; p.Q317R; 17:7673578-7673578 |
bone | osteosarcoma | Substitution - Missense |
c.913A>T; p.K305*; 17:7673707-7673707 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.541C>T; p.R181C; 17:7675071-7675071 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.559+1G>C; p.?; 17:7675052-7675052 |
breast | carcinoma; ductal_carcinoma | Unknown |
c.541C>T; p.R181C; 17:7675071-7675071 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.541C>T; p.R181C; 17:7675071-7675071 |
skin | malignant_melanoma | Substitution - Missense |
c.913A>T; p.K305*; 17:7673707-7673707 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.920-1G>A; p.?; 17:7673609-7673609 |
lung | carcinoma; adenocarcinoma | Unknown |
c.541C>T; p.R181C; 17:7675071-7675071 |
breast | carcinoma | Substitution - Missense |
c.674T>C; p.V225A; 17:7674289-7674289 |
skin | malignant_melanoma | Substitution - Missense |
c.920-1G>A; p.?; 17:7673609-7673609 |
ovary | other; neoplasm | Unknown |
c.535C>G; p.H179D; 17:7675077-7675077 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
breast | carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.836_837GG>TA; p.G279V; 17:7673783-7673784 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.785G>T; p.G262V; 17:7673835-7673835 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.883_884insGAGC; p.P295fs*12; 17:7673736-7673737 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.785G>T; p.G262V; 17:7673835-7673835 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.772G>T; p.E258*; 17:7674191-7674191 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.785G>T; p.G262V; 17:7673835-7673835 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.717C>G; p.N239K; 17:7674246-7674246 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
bone; femur | chondrosarcoma | Substitution - Nonsense |
c.734G>C; p.G245A; 17:7674229-7674229 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.394A>G; p.K132E; 17:7675218-7675218 |
breast | carcinoma | Substitution - Missense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
oesophagus | carcinoma | Substitution - Missense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
breast | carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
endometrium | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.772G>T; p.E258*; 17:7674191-7674191 |
breast | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.734G>C; p.G245A; 17:7674229-7674229 |
pancreas | carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
skin | malignant_melanoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; rectum | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | other; Barrett_oesophagus | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.394A>G; p.K132E; 17:7675218-7675218 |
breast | carcinoma | Substitution - Missense |
c.772G>T; p.E258*; 17:7674191-7674191 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.511delG; p.E171fs*3; 17:7675101-7675101 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.637C>T; p.R213*; 17:7674894-7674894 |
skin; face | in_situ_epithelial_neoplasm | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.734G>C; p.G245A; 17:7674229-7674229 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.665C>A; p.P222Q; 17:7674866-7674866 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.734G>C; p.G245A; 17:7674229-7674229 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.840A>C; p.R280S; 17:7673780-7673780 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
bone; mandible | other; ameloblastoma | Substitution - Missense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
breast | carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.840A>C; p.R280S; 17:7673780-7673780 |
breast | carcinoma | Substitution - Missense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.734G>C; p.G245A; 17:7674229-7674229 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.394A>G; p.K132E; 17:7675218-7675218 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Nonsense |
c.560-3T>G; p.?; 17:7674974-7674974 |
lung | carcinoma; large_cell_carcinoma | Unknown |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.785G>T; p.G262V; 17:7673835-7673835 |
pancreas | carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.866T>C; p.L289P; 17:7673754-7673754 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.357C>G; p.A119A; 17:7676012-7676012 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.394A>G; p.K132E; 17:7675218-7675218 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
liver | carcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.755T>A; p.L252H; 17:7674208-7674208 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.717C>G; p.N239K; 17:7674246-7674246 |
kidney | Wilms_tumour; unilateral | Substitution - Missense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour | Substitution - Missense |
c.734G>C; p.G245A; 17:7674229-7674229 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
soft_tissue; fibrous_tissue_and_uncertain_o | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.734G>C; p.G245A; 17:7674229-7674229 |
breast | carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.785G>T; p.G262V; 17:7673835-7673835 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.840A>C; p.R280S; 17:7673780-7673780 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
pancreas | carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.717C>G; p.N239K; 17:7674246-7674246 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
skin | malignant_melanoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
ovary | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.313_375del63; p.G105_T125del21; 17:7675994-7676056 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.637C>T; p.R213*; 17:7674894-7674894 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
soft_tissue; fibrous_tissue_and_uncertain_o | endometrial_stromal_sarcoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.772G>T; p.E258*; 17:7674191-7674191 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.772G>T; p.E258*; 17:7674191-7674191 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.785G>T; p.G262V; 17:7673835-7673835 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.785G>T; p.G262V; 17:7673835-7673835 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
breast | carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | carcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Nonsense |
c.394A>G; p.K132E; 17:7675218-7675218 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
skin | malignant_melanoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.560-3T>G; p.?; 17:7674974-7674974 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.745A>C; p.R249R; 17:7674218-7674218 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.772G>T; p.E258*; 17:7674191-7674191 |
large_intestine; rectum | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma; medullary_carcinoma | Substitution - Nonsense |
c.857A>C; p.E286A; 17:7673763-7673763 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
pancreas | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.394A>G; p.K132E; 17:7675218-7675218 |
breast | carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.840A>C; p.R280S; 17:7673780-7673780 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
prostate | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
skin; face | in_situ_epithelial_neoplasm | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.866T>C; p.L289P; 17:7673754-7673754 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.639A>G; p.R213R; 17:7674892-7674892 |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_II | Substitution - coding silent |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
NS | malignant_melanoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.785G>T; p.G262V; 17:7673835-7673835 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
prostate | carcinoma | Substitution - Nonsense |
c.639A>G; p.R213R; 17:7674892-7674892 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.637C>T; p.R213*; 17:7674894-7674894 |
skin | malignant_melanoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
skin | malignant_melanoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.772G>T; p.E258*; 17:7674191-7674191 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.772G>T; p.E258*; 17:7674191-7674191 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.507G>T; p.M169I; 17:7675105-7675105 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.785G>T; p.G262V; 17:7673835-7673835 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.560-3T>G; p.?; 17:7674974-7674974 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.713G>A; p.C238Y; 17:7674250-7674250 |
pancreas | carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.717C>G; p.N239K; 17:7674246-7674246 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.772G>T; p.E258*; 17:7674191-7674191 |
breast | carcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
large_intestine | adenoma | Substitution - Missense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.394A>G; p.K132E; 17:7675218-7675218 |
breast | carcinoma | Substitution - Missense |
c.840A>C; p.R280S; 17:7673780-7673780 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
stomach | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
pancreas | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
pancreas | carcinoma | Substitution - Missense |
c.351delG; p.T118fs*5; 17:7676018-7676018 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.713G>A; p.C238Y; 17:7674250-7674250 |
breast | carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
stomach | carcinoma; papillary_adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.782_782+1GG>AA; p.?; 17:7674180-7674181 |
skin | carcinoma; basal_cell_carcinoma | Unknown |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
pancreas | carcinoma | Substitution - Nonsense |
c.394A>G; p.K132E; 17:7675218-7675218 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
skin | malignant_melanoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
ovary | carcinoma | Substitution - Missense |
c.772G>T; p.E258*; 17:7674191-7674191 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.785G>T; p.G262V; 17:7673835-7673835 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.734G>C; p.G245A; 17:7674229-7674229 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma; medullary_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.772G>T; p.E258*; 17:7674191-7674191 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
prostate | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
ovary | carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
breast | carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.772G>T; p.E258*; 17:7674191-7674191 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.840A>C; p.R280S; 17:7673780-7673780 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.772G>T; p.E258*; 17:7674191-7674191 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.357C>G; p.A119A; 17:7676012-7676012 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.785G>T; p.G262V; 17:7673835-7673835 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.755T>A; p.L252H; 17:7674208-7674208 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
pancreas | carcinoma | Substitution - Nonsense |
c.772G>T; p.E258*; 17:7674191-7674191 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
pancreas | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.772G>T; p.E258*; 17:7674191-7674191 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
soft_tissue; fat | liposarcoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
central_nervous_system; brain | glioma; oligoastrocytoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.494A>C; p.Q165P; 17:7675118-7675118 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; MALT_lymphoma | Substitution - Missense |
c.639A>G; p.R213R; 17:7674892-7674892 |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_II | Substitution - coding silent |
c.637C>T; p.R213*; 17:7674894-7674894 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
endometrium | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
stomach | carcinoma | Substitution - Nonsense |
c.394A>G; p.K132E; 17:7675218-7675218 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.785G>T; p.G262V; 17:7673835-7673835 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
skin; ear | carcinoma; basal_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.772G>T; p.E258*; 17:7674191-7674191 |
pancreas | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.658_659insN; p.Y220fs*2; 17:7674872-7674873 |
breast | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.637C>T; p.R213*; 17:7674894-7674894 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; rectum | carcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
pancreas | carcinoma | Substitution - Missense |
c.394A>G; p.K132E; 17:7675218-7675218 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.394A>G; p.K132E; 17:7675218-7675218 |
central_nervous_system; brain | glioma; astrocytoma_Grade_I | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
soft_tissue; fibrous_tissue_and_uncertain_o | synovial_sarcoma | Substitution - Nonsense |
c.511delG; p.E171fs*3; 17:7675101-7675101 |
breast | carcinoma | Deletion - Frameshift |
c.637C>T; p.R213*; 17:7674894-7674894 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.772G>T; p.E258*; 17:7674191-7674191 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.785G>T; p.G262V; 17:7673835-7673835 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma; SHH_subtype | Substitution - Nonsense |
c.785G>T; p.G262V; 17:7673835-7673835 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.394A>G; p.K132E; 17:7675218-7675218 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.835_844del10; p.R280fs*62; 17:7673776-7673785 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.639A>G; p.R213R; 17:7674892-7674892 |
large_intestine | adenoma | Substitution - coding silent |
c.637C>T; p.R213*; 17:7674894-7674894 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
endometrium | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
stomach | adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Nonsense |
c.394A>G; p.K132E; 17:7675218-7675218 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.639A>G; p.R213R; 17:7674892-7674892 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - coding silent |
c.637C>T; p.R213*; 17:7674894-7674894 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
skin | malignant_melanoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
liver | carcinoma | Substitution - Nonsense |
c.394A>G; p.K132E; 17:7675218-7675218 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.351delG; p.T118fs*5; 17:7676018-7676018 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.637C>T; p.R213*; 17:7674894-7674894 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
soft_tissue; fibrous_tissue_and_uncertain_o | synovial_sarcoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.394A>G; p.K132E; 17:7675218-7675218 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.783-9C>A; p.?; 17:7673846-7673846 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.394A>G; p.K132E; 17:7675218-7675218 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; anaplastic_large_cell_lymphoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
salivary_gland | carcinoma; adenoid_cystic_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.631_632insN; p.T211fs*5; 17:7674899-7674900 |
ovary | carcinoma; mucinous_carcinoma | Insertion - Frameshift |
c.713G>A; p.C238Y; 17:7674250-7674250 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
endometrium | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.730_737delGGCGGCAT; p.G244fs*17; 17:7674226-7674233 |
breast | carcinoma | Deletion - Frameshift |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.394A>G; p.K132E; 17:7675218-7675218 |
breast | carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
large_intestine | adenoma | Substitution - Missense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
breast | carcinoma | Substitution - Missense |
c.734G>C; p.G245A; 17:7674229-7674229 |
prostate | carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
skin | malignant_melanoma | Substitution - Nonsense |
c.494A>C; p.Q165P; 17:7675118-7675118 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; MALT_lymphoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
thyroid | carcinoma | Substitution - Nonsense |
c.785G>T; p.G262V; 17:7673835-7673835 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.639A>G; p.R213R; 17:7674892-7674892 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.394A>G; p.K132E; 17:7675218-7675218 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
lung | carcinoma; large_cell_carcinoma | Substitution - Nonsense |
c.394A>G; p.K132E; 17:7675218-7675218 |
breast | carcinoma | Substitution - Missense |
c.772G>T; p.E258*; 17:7674191-7674191 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.857A>C; p.E286A; 17:7673763-7673763 |
breast | carcinoma | Substitution - Missense |
c.324delT; p.F109fs*14; 17:7676045-7676045 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.713G>A; p.C238Y; 17:7674250-7674250 |
pancreas | carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
ovary | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.772G>T; p.E258*; 17:7674191-7674191 |
pancreas | carcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
skin; neck | malignant_melanoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
small_intestine; ileum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.407A>T; p.Q136L; 17:7675205-7675205 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
ovary | carcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Nonsense |
c.785G>T; p.G262V; 17:7673835-7673835 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.785G>T; p.G262V; 17:7673835-7673835 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.394A>G; p.K132E; 17:7675218-7675218 |
breast | carcinoma | Substitution - Missense |
c.571C>A; p.P191T; 17:7674960-7674960 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
pancreas | carcinoma | Substitution - Nonsense |
c.772G>T; p.E258*; 17:7674191-7674191 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.734G>C; p.G245A; 17:7674229-7674229 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
central_nervous_system; brainstem | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
skin | malignant_melanoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
pancreas | carcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
skin | malignant_melanoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.551_554delATAG; p.D184fs*62; 17:7675058-7675061 |
oesophagus | carcinoma | Deletion - Frameshift |
c.713G>A; p.C238Y; 17:7674250-7674250 |
breast | carcinoma | Substitution - Missense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.717C>G; p.N239K; 17:7674246-7674246 |
central_nervous_system; brain | glioma; oligoastrocytoma | Substitution - Missense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
soft_tissue; fat | liposarcoma | Substitution - Nonsense |
c.785G>T; p.G262V; 17:7673835-7673835 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.507G>T; p.M169I; 17:7675105-7675105 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
ovary | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.713G>A; p.C238Y; 17:7674250-7674250 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
skin; face | other; hyperplasia | Substitution - Nonsense |
c.785G>T; p.G262V; 17:7673835-7673835 |
pancreas | carcinoma | Substitution - Missense |
c.394A>G; p.K132E; 17:7675218-7675218 |
soft_tissue; striated_muscle | rhabdomyosarcoma | Substitution - Missense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
breast | carcinoma | Substitution - Nonsense |
c.637C>T; p.R213*; 17:7674894-7674894 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.572_574delCTC; p.P191delP; 17:7674957-7674959 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.572_574delCTC; p.P191delP; 17:7674957-7674959 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.1126T>A; p.S376T; 17:7669665-7669665 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.134T>C; p.L45P; 17:7676235-7676235 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
skin; head_neck | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.?; p.C238fs*?; 17:7674250-7674251 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.400_405TTTTGC>TTCACC; p.C135T; 17:7675207-7675212 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1099delA; p.S367fs*3; 17:7670610-7670610 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.614A>G; p.Y205C; 17:7674917-7674917 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.879_880insN; p.E294fs*12; 17:7673740-7673741 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.452_453CC>AT; p.P151H; 17:7675159-7675160 |
stomach | carcinoma; papillary_adenocarcinoma | Substitution - Missense |
c.392A>T; p.N131I; 17:7675220-7675220 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.134T>C; p.L45P; 17:7676235-7676235 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.392A>T; p.N131I; 17:7675220-7675220 |
liver | carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.392A>T; p.N131I; 17:7675220-7675220 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.572_574delCTC; p.P191delP; 17:7674957-7674959 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Deletion - In frame |
c.614A>G; p.Y205C; 17:7674917-7674917 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.664C>T; p.P222S; 17:7674867-7674867 |
thymus | thymic_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.937A>T; p.S313C; 17:7673591-7673591 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.532delC; p.H178fs*69; 17:7675080-7675080 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.614A>G; p.Y205C; 17:7674917-7674917 |
oesophagus | carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.392A>T; p.N131I; 17:7675220-7675220 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.956A>G; p.K319R; 17:7673572-7673572 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.956A>G; p.K319R; 17:7673572-7673572 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.762C>A; p.I254I; 17:7674201-7674201 |
stomach | adenoma | Substitution - coding silent |
c.614A>G; p.Y205C; 17:7674917-7674917 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.562C>A; p.L188M; 17:7674969-7674969 |
central_nervous_system; cerebellum | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.532delC; p.H178fs*69; 17:7675080-7675080 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.935C>G; p.T312S; 17:7673593-7673593 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.532delC; p.H178fs*69; 17:7675080-7675080 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.614A>G; p.Y205C; 17:7674917-7674917 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.392A>T; p.N131I; 17:7675220-7675220 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
prostate | carcinoma | Substitution - Missense |
c.178C>G; p.P60A; 17:7676191-7676191 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
bone | osteosarcoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.935C>G; p.T312S; 17:7673593-7673593 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.572_574delCTC; p.P191delP; 17:7674957-7674959 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - In frame |
c.532delC; p.H178fs*69; 17:7675080-7675080 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; MALT_lymphoma | Deletion - Frameshift |
c.614A>G; p.Y205C; 17:7674917-7674917 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.703_705delAAC; p.N235delN; 17:7674258-7674260 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Deletion - In frame |
c.468_469insC; p.V157fs*24; 17:7675143-7675144 |
breast | carcinoma | Insertion - Frameshift |
c.614A>G; p.Y205C; 17:7674917-7674917 |
pancreas | carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.532delC; p.H178fs*69; 17:7675080-7675080 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.614A>G; p.Y205C; 17:7674917-7674917 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.935C>G; p.T312S; 17:7673593-7673593 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
pancreas | carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.922C>A; p.L308M; 17:7673606-7673606 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.392A>T; p.N131I; 17:7675220-7675220 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
vulva | carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
stomach | carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527_528insC; p.H178fs*3; 17:7675084-7675085 |
lung | carcinoma | Insertion - Frameshift |
c.614A>G; p.Y205C; 17:7674917-7674917 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.879_880insN; p.E294fs*12; 17:7673740-7673741 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.532delC; p.H178fs*69; 17:7675080-7675080 |
pancreas | carcinoma | Deletion - Frameshift |
c.614A>G; p.Y205C; 17:7674917-7674917 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.64delC; p.L22fs*22; 17:7676531-7676531 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.774_775insN; p.D259fs*5; 17:7674188-7674189 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.614A>G; p.Y205C; 17:7674917-7674917 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.922C>A; p.L308M; 17:7673606-7673606 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
ovary | carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.879_880insN; p.E294fs*12; 17:7673740-7673741 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.614A>G; p.Y205C; 17:7674917-7674917 |
central_nervous_system; temporoparietal | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.942_943insN; p.S315fs*22; 17:7673585-7673586 |
ovary | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Insertion - Frameshift |
c.532delC; p.H178fs*69; 17:7675080-7675080 |
endometrium | carcinoma | Deletion - Frameshift |
c.614A>G; p.Y205C; 17:7674917-7674917 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.532delC; p.H178fs*69; 17:7675080-7675080 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; MALT_lymphoma | Deletion - Frameshift |
c.532delC; p.H178fs*69; 17:7675080-7675080 |
breast | carcinoma | Deletion - Frameshift |
c.942_943insN; p.S315fs*22; 17:7673585-7673586 |
oesophagus | other; Barrett_oesophagus | Insertion - Frameshift |
c.614A>G; p.Y205C; 17:7674917-7674917 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
upper_aerodigestive_tract; larynx | carcinoma; spindle_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
breast | carcinoma | Substitution - Missense |
c.392A>T; p.N131I; 17:7675220-7675220 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.572_574delCTC; p.P191delP; 17:7674957-7674959 |
large_intestine; colon | adenoma | Deletion - In frame |
c.614A>G; p.Y205C; 17:7674917-7674917 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
breast | carcinoma | Substitution - Missense |
c.664C>T; p.P222S; 17:7674867-7674867 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.703_705delAAC; p.N235delN; 17:7674258-7674260 |
breast | carcinoma | Deletion - In frame |
c.603_604insNNNN; p.R202fs*8; 17:7674927-7674928 |
large_intestine; rectum | carcinoma | Insertion - Frameshift |
c.392A>T; p.N131I; 17:7675220-7675220 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.614A>G; p.Y205C; 17:7674917-7674917 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.532delC; p.H178fs*69; 17:7675080-7675080 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.738G>C; p.M246I; 17:7674225-7674225 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.210T>G; p.A70A; 17:7676159-7676159 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.308_318del11; p.Y103fs*42; 17:7676051-7676061 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.825T>A; p.C275*; 17:7673795-7673795 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.470T>G; p.V157G; 17:7675142-7675142 |
central_nervous_system; brain | glioma; oligodendroglioma | Substitution - Missense |
c.517G>C; p.V173L; 17:7675095-7675095 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.517G>C; p.V173L; 17:7675095-7675095 |
stomach | carcinoma | Substitution - Missense |
c.594A>G; p.E198E; 17:7674937-7674937 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.451C>A; p.P151T; 17:7675161-7675161 |
ovary | carcinoma | Substitution - Missense |
c.399G>A; p.M133I; 17:7675213-7675213 |
breast | carcinoma | Substitution - Missense |
c.822T>G; p.V274V; 17:7673798-7673798 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.451C>A; p.P151T; 17:7675161-7675161 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.451C>A; p.P151T; 17:7675161-7675161 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.771G>A; p.L257L; 17:7674192-7674192 |
pancreas | carcinoma | Substitution - coding silent |
c.771G>A; p.L257L; 17:7674192-7674192 |
breast | carcinoma | Substitution - coding silent |
c.470T>G; p.V157G; 17:7675142-7675142 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.451C>A; p.P151T; 17:7675161-7675161 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.517G>C; p.V173L; 17:7675095-7675095 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.517G>C; p.V173L; 17:7675095-7675095 |
pancreas | other; adenoma | Substitution - Missense |
c.441_442insN; p.D148fs*33; 17:7675170-7675171 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.472_477delCGCGCC; p.R158_A159delRA; 17:7675135-7675140 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Deletion - In frame |
c.626_627delGA; p.R209fs*6; 17:7674904-7674905 |
ovary | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.470T>G; p.V157G; 17:7675142-7675142 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.470T>G; p.V157G; 17:7675142-7675142 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.738G>C; p.M246I; 17:7674225-7674225 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.470T>G; p.V157G; 17:7675142-7675142 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.519G>T; p.V173V; 17:7675093-7675093 |
liver | carcinoma | Substitution - coding silent |
c.631A>G; p.T211A; 17:7674900-7674900 |
thymus | thymoma | Substitution - Missense |
c.441_442insN; p.D148fs*33; 17:7675170-7675171 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.831T>C; p.C277C; 17:7673789-7673789 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.643A>T; p.S215C; 17:7674888-7674888 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.708_709CA>AT; p.Y236_M237>*; 17:7674254-7674255 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Complex - deletion inframe |
c.643A>T; p.S215C; 17:7674888-7674888 |
ovary | carcinoma; mucinous_carcinoma | Substitution - Missense |
c.451C>A; p.P151T; 17:7675161-7675161 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.626_627delGA; p.R209fs*6; 17:7674904-7674905 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.974G>C; p.G325A; 17:7673554-7673554 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.910delA; p.T304fs*41; 17:7673710-7673710 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ | Deletion - Frameshift |
c.517G>C; p.V173L; 17:7675095-7675095 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.451C>A; p.P151T; 17:7675161-7675161 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.519G>T; p.V173V; 17:7675093-7675093 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.734delG; p.G245fs*2; 17:7674229-7674229 |
breast | carcinoma | Deletion - Frameshift |
c.463_470delACCCGCGT; p.T155fs*23; 17:7675142-7675149 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.626_627delGA; p.R209fs*6; 17:7674904-7674905 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.470T>G; p.V157G; 17:7675142-7675142 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.517G>C; p.V173L; 17:7675095-7675095 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.738G>C; p.M246I; 17:7674225-7674225 |
oesophagus | carcinoma | Substitution - Missense |
c.831T>C; p.C277C; 17:7673789-7673789 |
breast | carcinoma | Substitution - coding silent |
c.643A>T; p.S215C; 17:7674888-7674888 |
ovary | carcinoma | Substitution - Missense |
c.861G>C; p.E287D; 17:7673759-7673759 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.626_627delGA; p.R209fs*6; 17:7674904-7674905 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1030_1042del13; p.L344fs*22; 17:7670667-7670679 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.733_734GG>CA; p.G245H; 17:7674229-7674230 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.626_627delGA; p.R209fs*6; 17:7674904-7674905 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.626_627delGA; p.R209fs*6; 17:7674904-7674905 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.451C>A; p.P151T; 17:7675161-7675161 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.825T>A; p.C275*; 17:7673795-7673795 |
oesophagus | carcinoma | Substitution - Nonsense |
c.517G>C; p.V173L; 17:7675095-7675095 |
breast | carcinoma | Substitution - Missense |
c.626_627delGA; p.R209fs*6; 17:7674904-7674905 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.899C>G; p.P300R; 17:7673721-7673721 |
skin; arm | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.451C>A; p.P151T; 17:7675161-7675161 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.626_627delGA; p.R209fs*6; 17:7674904-7674905 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.451C>A; p.P151T; 17:7675161-7675161 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.470T>G; p.V157G; 17:7675142-7675142 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.626_627delGA; p.R209fs*6; 17:7674904-7674905 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.853_854delGA; p.E285fs*20; 17:7673766-7673767 |
central_nervous_system; brain | glioma; astrocytoma | Deletion - Frameshift |
c.626_627delGA; p.R209fs*6; 17:7674904-7674905 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.626_627delGA; p.R209fs*6; 17:7674904-7674905 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.906delG; p.S303fs*42; 17:7673714-7673714 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.825T>A; p.C275*; 17:7673795-7673795 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.519G>T; p.V173V; 17:7675093-7675093 |
liver | carcinoma | Substitution - coding silent |
c.626_627delGA; p.R209fs*6; 17:7674904-7674905 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.643A>T; p.S215C; 17:7674888-7674888 |
breast | other; neoplasm | Substitution - Missense |
c.626_627delGA; p.R209fs*6; 17:7674904-7674905 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.861G>C; p.E287D; 17:7673759-7673759 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.470T>G; p.V157G; 17:7675142-7675142 |
breast | carcinoma | Substitution - Missense |
c.517G>C; p.V173L; 17:7675095-7675095 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.463_470delACCCGCGT; p.T155fs*23; 17:7675142-7675149 |
ovary | carcinoma; undifferentiated_carcinoma | Deletion - Frameshift |
c.308_318del11; p.Y103fs*42; 17:7676051-7676061 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.517G>C; p.V173L; 17:7675095-7675095 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.626_627delGA; p.R209fs*6; 17:7674904-7674905 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.451C>A; p.P151T; 17:7675161-7675161 |
ovary | other; neoplasm | Substitution - Missense |
c.287delC; p.S96fs*27; 17:7676082-7676082 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.631A>G; p.T211A; 17:7674900-7674900 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.451C>A; p.P151T; 17:7675161-7675161 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.831T>C; p.C277C; 17:7673789-7673789 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.517G>C; p.V173L; 17:7675095-7675095 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.517G>C; p.V173L; 17:7675095-7675095 |
ovary | carcinoma | Substitution - Missense |
c.831T>C; p.C277C; 17:7673789-7673789 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - coding silent |
c.771G>A; p.L257L; 17:7674192-7674192 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.902_920-4071>C; p.?; 17:7673648-7673718 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.451C>A; p.P151T; 17:7675161-7675161 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.517G>C; p.V173L; 17:7675095-7675095 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.716_724delACAGTTCCT; p.N239_C242>S; 17:7674239-7674247 |
large_intestine; rectum | carcinoma; adenocarcinoma | Complex - deletion inframe |
c.517G>C; p.V173L; 17:7675095-7675095 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.738G>C; p.M246I; 17:7674225-7674225 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.517G>C; p.V173L; 17:7675095-7675095 |
breast | carcinoma | Substitution - Missense |
c.451C>A; p.P151T; 17:7675161-7675161 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.626_627delGA; p.R209fs*6; 17:7674904-7674905 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.910delA; p.T304fs*41; 17:7673710-7673710 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.451C>A; p.P151T; 17:7675161-7675161 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.472_477delCGCGCC; p.R158_A159delRA; 17:7675135-7675140 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.822T>G; p.V274V; 17:7673798-7673798 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.517G>C; p.V173L; 17:7675095-7675095 |
upper_aerodigestive_tract; head_neck | carcinoma | Substitution - Missense |
c.631A>G; p.T211A; 17:7674900-7674900 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.451C>A; p.P151T; 17:7675161-7675161 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.470T>G; p.V157G; 17:7675142-7675142 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.451C>A; p.P151T; 17:7675161-7675161 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.388delC; p.L130fs*40; 17:7675224-7675224 |
urinary_tract; bladder | carcinoma | Deletion - Frameshift |
c.566C>T; p.A189V; 17:7674965-7674965 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.388delC; p.L130fs*40; 17:7675224-7675224 |
skin; back | malignant_melanoma | Deletion - Frameshift |
c.989T>A; p.L330H; 17:7673539-7673539 |
ovary | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.666G>C; p.P222P; 17:7674865-7674865 |
skin | benign_melanocytic_nevus | Substitution - coding silent |
c.766A>G; p.T256A; 17:7674197-7674197 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.836G>T; p.G279V; 17:7673784-7673784 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.284C>T; p.S95F; 17:7676085-7676085 |
skin; arm | other; keratosis | Substitution - Missense |
c.127_128insG; p.L43fs*9; 17:7676241-7676242 |
oesophagus | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.493_496delCAGT; p.Q165fs*4; 17:7675116-7675119 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.407A>G; p.Q136R; 17:7675205-7675205 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.836G>T; p.G279V; 17:7673784-7673784 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.407A>G; p.Q136R; 17:7675205-7675205 |
breast | carcinoma | Substitution - Missense |
c.666G>C; p.P222P; 17:7674865-7674865 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.836G>T; p.G279V; 17:7673784-7673784 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.284C>T; p.S95F; 17:7676085-7676085 |
skin; face | other; keratosis | Substitution - Missense |
c.681T>C; p.S227S; 17:7674282-7674282 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.777_782delCTCCAG; p.S260_S261delSS; 17:7674181-7674186 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.489C>T; p.Y163Y; 17:7675123-7675123 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - coding silent |
c.607G>A; p.V203M; 17:7674924-7674924 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.145G>C; p.D49H; 17:7676224-7676224 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.162C>T; p.F54F; 17:7676207-7676207 |
upper_aerodigestive_tract; tonsil | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.172_173insGACC; p.P58fs*6; 17:7676196-7676197 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.666G>C; p.P222P; 17:7674865-7674865 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.572_581del10; p.P191fs*53; 17:7674950-7674959 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.489C>T; p.Y163Y; 17:7675123-7675123 |
breast | carcinoma | Substitution - coding silent |
c.1090G>A; p.A364T; 17:7670619-7670619 |
ovary | other; neoplasm | Substitution - Missense |
c.993_994ins133; p.I332fs*49; 17:7670715-7673535 |
breast | carcinoma | Insertion - Frameshift |
c.712T>G; p.C238G; 17:7674251-7674251 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.989T>A; p.L330H; 17:7673539-7673539 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.634T>A; p.F212I; 17:7674897-7674897 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Substitution - Missense |
c.890delA; p.H297fs*48; 17:7673730-7673730 |
skin; arm | carcinoma; basal_cell_carcinoma | Deletion - Frameshift |
c.607G>A; p.V203M; 17:7674924-7674924 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.989T>A; p.L330H; 17:7673539-7673539 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.370_371insG; p.C124fs*25; 17:7675998-7675999 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.566C>T; p.A189V; 17:7674965-7674965 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.766A>G; p.T256A; 17:7674197-7674197 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.994-1G>C; p.?; 17:7670716-7670716 |
central_nervous_system; brain | glioma | Unknown |
c.998G>C; p.R333P; 17:7670711-7670711 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.712T>G; p.C238G; 17:7674251-7674251 |
ovary | other; neoplasm | Substitution - Missense |
c.566C>T; p.A189V; 17:7674965-7674965 |
breast | carcinoma | Substitution - Missense |
c.634T>A; p.F212I; 17:7674897-7674897 |
breast | carcinoma | Substitution - Missense |
c.145G>C; p.D49H; 17:7676224-7676224 |
lung | carcinoma | Substitution - Missense |
c.145G>C; p.D49H; 17:7676224-7676224 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.442G>T; p.D148Y; 17:7675170-7675170 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.712T>G; p.C238G; 17:7674251-7674251 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.484_485insN; p.I162fs*19; 17:7675127-7675128 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.566C>T; p.A189V; 17:7674965-7674965 |
ovary | low_malignant_potential_(borderline)_tumour; serous | Substitution - Missense |
c.274delC; p.L93fs*30; 17:7676095-7676095 |
urinary_tract; bladder | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.162C>T; p.F54F; 17:7676207-7676207 |
skin | carcinoma; basal_cell_carcinoma | Substitution - coding silent |
c.673-43_673-33CCAAGGCGCAC>CCCAGAGCCCA; p.?; 17:7674323-7674333 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.712T>G; p.C238G; 17:7674251-7674251 |
ovary | other; neoplasm | Substitution - Missense |
c.145G>C; p.D49H; 17:7676224-7676224 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.566_581del16; p.A189fs*53; 17:7674950-7674965 |
ovary | carcinoma | Deletion - Frameshift |
c.489C>T; p.Y163Y; 17:7675123-7675123 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.599_600insN; p.N200fs*9; 17:7674931-7674932 |
lung | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.284C>T; p.S95F; 17:7676085-7676085 |
skin; leg | other; keratosis | Substitution - Missense |
c.766A>G; p.T256A; 17:7674197-7674197 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.807_808insNNN; p.S269_F270insX; 17:7673812-7673813 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - In frame |
c.559+3G>A; p.?; 17:7675050-7675050 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Unknown |
c.174A>G; p.P58P; 17:7676195-7676195 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.796_797GG>AC; p.G266T; 17:7673823-7673824 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.370T>C; p.C124R; 17:7675999-7675999 |
ovary | other; neoplasm | Substitution - Missense |
c.503A>T; p.H168L; 17:7675109-7675109 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.649G>T; p.V217L; 17:7674882-7674882 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.461G>T; p.G154V; 17:7675151-7675151 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.465C>T; p.T155T; 17:7675147-7675147 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.461G>T; p.G154V; 17:7675151-7675151 |
thyroid | carcinoma | Substitution - Missense |
c.325T>C; p.F109L; 17:7676044-7676044 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.461G>T; p.G154V; 17:7675151-7675151 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.461G>T; p.G154V; 17:7675151-7675151 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.686_687delGT; p.C229fs*10; 17:7674276-7674277 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.558T>A; p.D186E; 17:7675054-7675054 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.329delG; p.R110fs*13; 17:7676040-7676040 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.461G>T; p.G154V; 17:7675151-7675151 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.461G>T; p.G154V; 17:7675151-7675151 |
oesophagus | carcinoma | Substitution - Missense |
c.465C>T; p.T155T; 17:7675147-7675147 |
ovary | low_malignant_potential_(borderline)_tumour; serous | Substitution - coding silent |
c.1171G>A; p.D391N; 17:7669620-7669620 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.461G>T; p.G154V; 17:7675151-7675151 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.461G>T; p.G154V; 17:7675151-7675151 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.370T>C; p.C124R; 17:7675999-7675999 |
pleura | pulmonary_blastoma | Substitution - Missense |
c.190_250del61; p.R65fs*38; 17:7676119-7676179 |
breast | carcinoma | Deletion - Frameshift |
c.461G>T; p.G154V; 17:7675151-7675151 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.625_634del10; p.R209fs*35; 17:7674897-7674906 |
breast | carcinoma; HER-positive_carcinoma | Deletion - Frameshift |
c.326T>G; p.F109C; 17:7676043-7676043 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.461G>T; p.G154V; 17:7675151-7675151 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; non_functioning | Substitution - Missense |
c.326T>G; p.F109C; 17:7676043-7676043 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.686_687delGT; p.C229fs*10; 17:7674276-7674277 |
breast | carcinoma | Deletion - Frameshift |
c.461G>T; p.G154V; 17:7675151-7675151 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.461G>T; p.G154V; 17:7675151-7675151 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.326T>G; p.F109C; 17:7676043-7676043 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.461G>T; p.G154V; 17:7675151-7675151 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.461G>T; p.G154V; 17:7675151-7675151 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.461G>T; p.G154V; 17:7675151-7675151 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.461G>T; p.G154V; 17:7675151-7675151 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.686_687delGT; p.C229fs*10; 17:7674276-7674277 |
breast | carcinoma | Deletion - Frameshift |
c.461G>T; p.G154V; 17:7675151-7675151 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.646_647insN; p.V216fs*6; 17:7674884-7674885 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.686_687delGT; p.C229fs*10; 17:7674276-7674277 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.329delG; p.R110fs*13; 17:7676040-7676040 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.461G>T; p.G154V; 17:7675151-7675151 |
lung | carcinoma | Substitution - Missense |
c.686_687delGT; p.C229fs*10; 17:7674276-7674277 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.461G>T; p.G154V; 17:7675151-7675151 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.294_297delTTCC; p.S99fs*23; 17:7676072-7676075 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.461G>T; p.G154V; 17:7675151-7675151 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.910A>G; p.T304A; 17:7673710-7673710 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.461G>T; p.G154V; 17:7675151-7675151 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.766A>C; p.T256P; 17:7674197-7674197 |
ovary | carcinoma | Substitution - Missense |
c.472_474CGC>TGT; p.R158C; 17:7675138-7675140 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.461G>T; p.G154V; 17:7675151-7675151 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.491A>C; p.K164T; 17:7675121-7675121 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.461G>T; p.G154V; 17:7675151-7675151 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.503A>T; p.H168L; 17:7675109-7675109 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.409C>T; p.L137L; 17:7675203-7675203 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.580_583delCTTA; p.L194fs*52; 17:7674948-7674951 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.503A>T; p.H168L; 17:7675109-7675109 |
breast | carcinoma | Substitution - Missense |
c.780delC; p.S261fs*84; 17:7674183-7674183 |
ovary | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.461G>T; p.G154V; 17:7675151-7675151 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.503A>T; p.H168L; 17:7675109-7675109 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.461G>T; p.G154V; 17:7675151-7675151 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.686_687delGT; p.C229fs*10; 17:7674276-7674277 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.686_687delGT; p.C229fs*10; 17:7674276-7674277 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.461G>T; p.G154V; 17:7675151-7675151 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.461G>T; p.G154V; 17:7675151-7675151 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.761_768delTCATCACA; p.I254fs*7; 17:7674195-7674202 |
ovary | carcinoma; undifferentiated_carcinoma | Deletion - Frameshift |
c.679delT; p.S227fs*20; 17:7674284-7674284 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.465C>T; p.T155T; 17:7675147-7675147 |
breast | carcinoma | Substitution - coding silent |
c.461G>T; p.G154V; 17:7675151-7675151 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.814_815GT>AA; p.V272K; 17:7673805-7673806 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.910A>G; p.T304A; 17:7673710-7673710 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.326T>G; p.F109C; 17:7676043-7676043 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.461G>T; p.G154V; 17:7675151-7675151 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.127_131delTTGAT; p.L43fs*7; 17:7676238-7676242 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.294_297delTTCC; p.S99fs*23; 17:7676072-7676075 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.370T>C; p.C124R; 17:7675999-7675999 |
central_nervous_system; brain | glioma; gliomatosis_cerebri | Substitution - Missense |
c.686_687delGT; p.C229fs*10; 17:7674276-7674277 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.686_687delGT; p.C229fs*10; 17:7674276-7674277 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.461G>T; p.G154V; 17:7675151-7675151 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Missense |
c.461G>T; p.G154V; 17:7675151-7675151 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.370T>C; p.C124R; 17:7675999-7675999 |
ovary | other; neoplasm | Substitution - Missense |
c.649G>T; p.V217L; 17:7674882-7674882 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.625_634del10; p.R209fs*35; 17:7674897-7674906 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Deletion - Frameshift |
c.503A>T; p.H168L; 17:7675109-7675109 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.656C>T; p.P219L; 17:7674875-7674875 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.461G>T; p.G154V; 17:7675151-7675151 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.329delG; p.R110fs*13; 17:7676040-7676040 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.465C>T; p.T155T; 17:7675147-7675147 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.325T>C; p.F109L; 17:7676044-7676044 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.461G>T; p.G154V; 17:7675151-7675151 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.915G>C; p.K305N; 17:7673705-7673705 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.780delC; p.S261fs*84; 17:7674183-7674183 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.656C>T; p.P219L; 17:7674875-7674875 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.503A>T; p.H168L; 17:7675109-7675109 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.461G>T; p.G154V; 17:7675151-7675151 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.574C>A; p.Q192K; 17:7674957-7674957 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.409C>T; p.L137L; 17:7675203-7675203 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.461G>T; p.G154V; 17:7675151-7675151 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.461G>T; p.G154V; 17:7675151-7675151 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.647delT; p.V216fs*31; 17:7674884-7674884 |
ovary | carcinoma | Deletion - Frameshift |
c.704delA; p.N235fs*12; 17:7674259-7674259 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - Frameshift |
c.326T>G; p.F109C; 17:7676043-7676043 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.793_801delCTGGGACGG; p.L265_R267delLGR; 17:7673819-7673827 |
urinary_tract; bladder | carcinoma | Deletion - In frame |
c.461G>T; p.G154V; 17:7675151-7675151 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.461G>T; p.G154V; 17:7675151-7675151 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.647delT; p.V216fs*31; 17:7674884-7674884 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.686_687delGT; p.C229fs*10; 17:7674276-7674277 |
ovary | carcinoma | Deletion - Frameshift |
c.461G>T; p.G154V; 17:7675151-7675151 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.491A>C; p.K164T; 17:7675121-7675121 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
liver | carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.400T>G; p.F134V; 17:7675212-7675212 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
lung | carcinoma; pleomorphic_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
breast | carcinoma | Substitution - Missense |
c.684delC; p.C229fs*18; 17:7674279-7674279 |
prostate | carcinoma | Deletion - Frameshift |
c.641A>G; p.H214R; 17:7674890-7674890 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
prostate | carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.936delC; p.S313fs*32; 17:7673592-7673592 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.641A>G; p.H214R; 17:7674890-7674890 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.380C>G; p.S127C; 17:7675232-7675232 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.400T>G; p.F134V; 17:7675212-7675212 |
ovary | carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.821T>C; p.V274A; 17:7673799-7673799 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
stomach | carcinoma; undifferentiated_adenocarcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
ovary | other; neoplasm | Substitution - Missense |
c.821T>C; p.V274A; 17:7673799-7673799 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.102_103insC; p.P36fs*7; 17:7676266-7676267 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.641A>G; p.H214R; 17:7674890-7674890 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.451_453delCCC; p.P153delP; 17:7675159-7675161 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.821T>C; p.V274A; 17:7673799-7673799 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.531_548del18; p.H178_S183delHHERCS; 17:7675064-7675081 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.102_103insC; p.P36fs*7; 17:7676266-7676267 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.434T>G; p.L145R; 17:7675178-7675178 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
prostate | carcinoma | Substitution - Missense |
c.821T>C; p.V274A; 17:7673799-7673799 |
breast | carcinoma | Substitution - Missense |
c.380C>G; p.S127C; 17:7675232-7675232 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.821T>C; p.V274A; 17:7673799-7673799 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
stomach | carcinoid-endocrine_tumour | Substitution - Missense |
c.821T>C; p.V274A; 17:7673799-7673799 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.400T>G; p.F134V; 17:7675212-7675212 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.821T>C; p.V274A; 17:7673799-7673799 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.472_484del13; p.R158fs*8; 17:7675128-7675140 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.821T>C; p.V274A; 17:7673799-7673799 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.714T>G; p.C238W; 17:7674249-7674249 |
skin; arm | other; keratosis | Substitution - Missense |
c.821T>C; p.V274A; 17:7673799-7673799 |
liver | carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
pancreas | carcinoma | Substitution - Missense |
c.400T>G; p.F134V; 17:7675212-7675212 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.821T>C; p.V274A; 17:7673799-7673799 |
breast | carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.434T>G; p.L145R; 17:7675178-7675178 |
ovary | carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
pancreas | carcinoma | Substitution - Missense |
c.821T>C; p.V274A; 17:7673799-7673799 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.821T>C; p.V274A; 17:7673799-7673799 |
stomach | adenocarcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.400T>G; p.F134V; 17:7675212-7675212 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.714T>G; p.C238W; 17:7674249-7674249 |
prostate | adenoma | Substitution - Missense |
c.434T>G; p.L145R; 17:7675178-7675178 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.936delC; p.S313fs*32; 17:7673592-7673592 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.102_103insC; p.P36fs*7; 17:7676266-7676267 |
oesophagus | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.641A>G; p.H214R; 17:7674890-7674890 |
pancreas | carcinoma | Substitution - Missense |
c.434T>G; p.L145R; 17:7675178-7675178 |
breast | carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.821T>C; p.V274A; 17:7673799-7673799 |
liver | carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.400T>G; p.F134V; 17:7675212-7675212 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.821T>C; p.V274A; 17:7673799-7673799 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.833_835delCTG; p.P278_G279>R; 17:7673785-7673787 |
oesophagus | carcinoma; squamous_cell_carcinoma | Complex - deletion inframe |
c.729_730GG>TT; p.M243_G244>IC; 17:7674233-7674234 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Complex - compound substitution |
c.400T>G; p.F134V; 17:7675212-7675212 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.722_723delCC; p.S241fs*22; 17:7674240-7674241 |
stomach | carcinoma | Deletion - Frameshift |
c.641A>G; p.H214R; 17:7674890-7674890 |
stomach | adenocarcinoma | Substitution - Missense |
c.400T>G; p.F134V; 17:7675212-7675212 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.96+16_96+31del; p.?; 17:7676351-7676366 |
lung | carcinoma | Unknown |
c.641A>G; p.H214R; 17:7674890-7674890 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.821T>C; p.V274A; 17:7673799-7673799 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.729_730GG>TT; p.M243_G244>IC; 17:7674233-7674234 |
ovary | carcinoma; serous_carcinoma | Complex - compound substitution |
c.641A>G; p.H214R; 17:7674890-7674890 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.267_268insC; p.S90fs*59; 17:7676101-7676102 |
liver | carcinoma; hepatocellular_carcinoma | Insertion - Frameshift |
c.909C>T; p.S303S; 17:7673711-7673711 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.641A>G; p.H214R; 17:7674890-7674890 |
prostate | carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
breast | carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
ovary | carcinoma | Substitution - Missense |
c.400T>G; p.F134V; 17:7675212-7675212 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.821T>C; p.V274A; 17:7673799-7673799 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.821T>C; p.V274A; 17:7673799-7673799 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.895C>G; p.L299V; 17:7673725-7673725 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
ovary | other; neoplasm | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
soft_tissue | sarcoma | Substitution - Missense |
c.821T>C; p.V274A; 17:7673799-7673799 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.375_376insNNN; p.T125_Y126insX; 17:7675236-7675994 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - In frame |
c.898_901delCCCC; p.P300fs*44; 17:7673719-7673722 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.641A>G; p.H214R; 17:7674890-7674890 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.821T>C; p.V274A; 17:7673799-7673799 |
skin; forearm | malignant_melanoma | Substitution - Missense |
c.400T>G; p.F134V; 17:7675212-7675212 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.434T>G; p.L145R; 17:7675178-7675178 |
ovary | carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.821T>C; p.V274A; 17:7673799-7673799 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.821T>C; p.V274A; 17:7673799-7673799 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
prostate | carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.714T>G; p.C238W; 17:7674249-7674249 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
central_nervous_system; occipital_lobe | glioma; astrocytoma | Substitution - Missense |
c.821T>C; p.V274A; 17:7673799-7673799 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.400T>G; p.F134V; 17:7675212-7675212 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.821T>C; p.V274A; 17:7673799-7673799 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.267_268insC; p.S90fs*59; 17:7676101-7676102 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.821T>C; p.V274A; 17:7673799-7673799 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
central_nervous_system; brainstem | glioma; oligoastrocytoma_Grade_II | Substitution - Missense |
c.553A>T; p.S185C; 17:7675059-7675059 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.478delA; p.M160fs*10; 17:7675134-7675134 |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma | Deletion - Frameshift |
c.102_103insC; p.P36fs*7; 17:7676266-7676267 |
breast | carcinoma; HER-positive_carcinoma | Insertion - Frameshift |
c.434T>G; p.L145R; 17:7675178-7675178 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.641A>G; p.H214R; 17:7674890-7674890 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.434T>G; p.L145R; 17:7675178-7675178 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.621T>A; p.D207E; 17:7674910-7674910 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.377A>G; p.Y126C; 17:7675235-7675235 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.385_393delGCCCTCAAC; p.A129_N131delALN; 17:7675219-7675227 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Deletion - In frame |
c.430C>T; p.Q144*; 17:7675182-7675182 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.377A>G; p.Y126C; 17:7675235-7675235 |
pancreas | carcinoma | Substitution - Missense |
c.528C>G; p.C176W; 17:7675084-7675084 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.380delC; p.P128fs*42; 17:7675232-7675232 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.430C>T; p.Q144*; 17:7675182-7675182 |
breast | carcinoma | Substitution - Nonsense |
c.321C>A; p.Y107*; 17:7676048-7676048 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.823T>G; p.C275G; 17:7673797-7673797 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.537T>C; p.H179H; 17:7675075-7675075 |
endometrium | carcinoma; serous_carcinoma | Substitution - coding silent |
c.751A>C; p.I251L; 17:7674212-7674212 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.808T>C; p.F270L; 17:7673812-7673812 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Substitution - Missense |
c.377A>G; p.Y126C; 17:7675235-7675235 |
breast | carcinoma | Substitution - Missense |
c.375G>A; p.T125T; 17:7675994-7675994 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.808T>C; p.F270L; 17:7673812-7673812 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.808T>C; p.F270L; 17:7673812-7673812 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.528C>G; p.C176W; 17:7675084-7675084 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.462C>G; p.G154G; 17:7675150-7675150 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.380delC; p.P128fs*42; 17:7675232-7675232 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.375G>A; p.T125T; 17:7675994-7675994 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.430C>T; p.Q144*; 17:7675182-7675182 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
soft_tissue; fat | liposarcoma | Substitution - Nonsense |
c.521_552del32; p.R174fs*24; 17:7675060-7675091 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.375G>A; p.T125T; 17:7675994-7675994 |
skin | malignant_melanoma | Substitution - coding silent |
c.430C>T; p.Q144*; 17:7675182-7675182 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
ovary | carcinoma | Substitution - Nonsense |
c.823T>G; p.C275G; 17:7673797-7673797 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
breast | carcinoma | Substitution - Nonsense |
c.375G>A; p.T125T; 17:7675994-7675994 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.808T>C; p.F270L; 17:7673812-7673812 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
endometrium | carcinoma | Substitution - Nonsense |
c.377A>G; p.Y126C; 17:7675235-7675235 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.377A>G; p.Y126C; 17:7675235-7675235 |
pancreas | carcinoma | Substitution - Missense |
c.375G>A; p.T125T; 17:7675994-7675994 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.375+19C>T; p.?; 17:7675975-7675975 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Unknown |
c.528C>G; p.C176W; 17:7675084-7675084 |
breast | carcinoma | Substitution - Missense |
c.321C>A; p.Y107*; 17:7676048-7676048 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.823T>G; p.C275G; 17:7673797-7673797 |
pancreas | carcinoma | Substitution - Missense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.375G>A; p.T125T; 17:7675994-7675994 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - coding silent |
c.430C>T; p.Q144*; 17:7675182-7675182 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.823T>G; p.C275G; 17:7673797-7673797 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.321C>A; p.Y107*; 17:7676048-7676048 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Nonsense |
c.850_851delAC; p.T284fs*21; 17:7673769-7673770 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.528C>G; p.C176W; 17:7675084-7675084 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.375G>A; p.T125T; 17:7675994-7675994 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.430C>T; p.Q144*; 17:7675182-7675182 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.823T>G; p.C275G; 17:7673797-7673797 |
breast | carcinoma | Substitution - Missense |
c.808T>C; p.F270L; 17:7673812-7673812 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.287C>T; p.S96F; 17:7676082-7676082 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.808T>C; p.F270L; 17:7673812-7673812 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
breast | carcinoma | Substitution - Nonsense |
c.808T>C; p.F270L; 17:7673812-7673812 |
breast | carcinoma | Substitution - Missense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.808T>C; p.F270L; 17:7673812-7673812 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.375G>A; p.T125T; 17:7675994-7675994 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.528C>G; p.C176W; 17:7675084-7675084 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.145G>A; p.D49N; 17:7676224-7676224 |
central_nervous_system; brain | atypical_teratoid-rhabdoid_tumour | Substitution - Missense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.377A>G; p.Y126C; 17:7675235-7675235 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.750_751ins18; p.P250_I251insXXXXXX; 17:7674212-7674213 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - In frame |
c.680_681delCT; p.S227fs*1; 17:7674282-7674283 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Deletion - Frameshift |
c.230_236delCAGCAGC; p.P77fs*44; 17:7676133-7676139 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.375G>A; p.T125T; 17:7675994-7675994 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.430C>T; p.Q144*; 17:7675182-7675182 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.375G>A; p.T125T; 17:7675994-7675994 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - coding silent |
c.430C>T; p.Q144*; 17:7675182-7675182 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.751A>C; p.I251L; 17:7674212-7674212 |
stomach | carcinoma | Substitution - Missense |
c.950A>C; p.Q317P; 17:7673578-7673578 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.808T>C; p.F270L; 17:7673812-7673812 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.528C>G; p.C176W; 17:7675084-7675084 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.823T>G; p.C275G; 17:7673797-7673797 |
stomach | carcinoma | Substitution - Missense |
c.375G>A; p.T125T; 17:7675994-7675994 |
oesophagus | carcinoma | Substitution - coding silent |
c.380delC; p.P128fs*42; 17:7675232-7675232 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.528C>G; p.C176W; 17:7675084-7675084 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.528C>G; p.C176W; 17:7675084-7675084 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.81_87TGAAAAC>AG; p.N29fs*12; 17:7676391-7676397 |
liver | carcinoma; hepatocellular_carcinoma | Complex - frameshift |
c.386_389delCCCT; p.L130fs*39; 17:7675223-7675226 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.321C>A; p.Y107*; 17:7676048-7676048 |
skin | malignant_melanoma | Substitution - Nonsense |
c.823T>G; p.C275G; 17:7673797-7673797 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.375G>A; p.T125T; 17:7675994-7675994 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.430C>T; p.Q144*; 17:7675182-7675182 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.375G>A; p.T125T; 17:7675994-7675994 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.377A>G; p.Y126C; 17:7675235-7675235 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.377A>G; p.Y126C; 17:7675235-7675235 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; classic | Substitution - Missense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.808T>C; p.F270L; 17:7673812-7673812 |
stomach | carcinoma | Substitution - Missense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Nonsense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.375G>A; p.T125T; 17:7675994-7675994 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.430C>T; p.Q144*; 17:7675182-7675182 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.528C>G; p.C176W; 17:7675084-7675084 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.808T>C; p.F270L; 17:7673812-7673812 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.287C>T; p.S96F; 17:7676082-7676082 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.377A>G; p.Y126C; 17:7675235-7675235 |
pancreas | carcinoma | Substitution - Missense |
c.377A>G; p.Y126C; 17:7675235-7675235 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.528C>G; p.C176W; 17:7675084-7675084 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_myelodysplastic_syndrome_therapy_related_NOS | Substitution - Missense |
c.375G>A; p.T125T; 17:7675994-7675994 |
kidney | carcinoma; chromophobe_renal_cell_carcinoma | Substitution - coding silent |
c.396delG; p.M133fs*37; 17:7675216-7675216 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.808T>C; p.F270L; 17:7673812-7673812 |
breast | carcinoma | Substitution - Missense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Nonsense |
c.808T>C; p.F270L; 17:7673812-7673812 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
breast | carcinoma | Substitution - Nonsense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.321C>A; p.Y107*; 17:7676048-7676048 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.528C>G; p.C176W; 17:7675084-7675084 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.375G>A; p.T125T; 17:7675994-7675994 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.430C>T; p.Q144*; 17:7675182-7675182 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.808T>C; p.F270L; 17:7673812-7673812 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.528C>G; p.C176W; 17:7675084-7675084 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_myelodysplastic_syndrome_therapy_related_NOS | Substitution - Missense |
c.375G>A; p.T125T; 17:7675994-7675994 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia | Substitution - coding silent |
c.375G>A; p.T125T; 17:7675994-7675994 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - coding silent |
c.321C>A; p.Y107*; 17:7676048-7676048 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.808T>C; p.F270L; 17:7673812-7673812 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.642_643insNNN; p.H214_S215insX; 17:7674888-7674889 |
stomach | carcinoma; adenocarcinoma | Insertion - In frame |
c.808T>C; p.F270L; 17:7673812-7673812 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.375G>A; p.T125T; 17:7675994-7675994 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - coding silent |
c.642T>C; p.H214H; 17:7674889-7674889 |
breast | carcinoma | Substitution - coding silent |
c.287C>T; p.S96F; 17:7676082-7676082 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
prostate | carcinoma | Substitution - Nonsense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.537T>C; p.H179H; 17:7675075-7675075 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.430C>T; p.Q144*; 17:7675182-7675182 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.321C>A; p.Y107*; 17:7676048-7676048 |
breast | carcinoma | Substitution - Nonsense |
c.751A>C; p.I251L; 17:7674212-7674212 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.430C>T; p.Q144*; 17:7675182-7675182 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.375G>A; p.T125T; 17:7675994-7675994 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - coding silent |
c.808T>C; p.F270L; 17:7673812-7673812 |
stomach | carcinoma | Substitution - Missense |
c.732C>A; p.G244G; 17:7674231-7674231 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.429delG; p.Q144fs*26; 17:7675183-7675183 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.898C>G; p.P300A; 17:7673722-7673722 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.310C>T; p.Q104*; 17:7676059-7676059 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.875A>C; p.K292T; 17:7673745-7673745 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.578A>C; p.H193P; 17:7674953-7674953 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.474C>T; p.R158R; 17:7675138-7675138 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.310C>T; p.Q104*; 17:7676059-7676059 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.474C>T; p.R158R; 17:7675138-7675138 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour | Substitution - coding silent |
c.310C>T; p.Q104*; 17:7676059-7676059 |
ovary | carcinoma | Substitution - Nonsense |
c.510_511insNNNNNN; p.T170_E171insXX; 17:7675101-7675102 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - In frame |
c.559+9C>T; p.?; 17:7675044-7675044 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.732C>A; p.G244G; 17:7674231-7674231 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Substitution - coding silent |
c.800G>T; p.R267L; 17:7673820-7673820 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.310C>T; p.Q104*; 17:7676059-7676059 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.873G>A; p.K291K; 17:7673747-7673747 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.644G>A; p.S215N; 17:7674887-7674887 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.562C>G; p.L188V; 17:7674969-7674969 |
urinary_tract; bladder | papilloma; typical | Substitution - Missense |
c.310C>T; p.Q104*; 17:7676059-7676059 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.181_182delGA; p.D61fs*1; 17:7676187-7676188 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.644G>A; p.S215N; 17:7674887-7674887 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.644G>A; p.S215N; 17:7674887-7674887 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.578A>C; p.H193P; 17:7674953-7674953 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.644G>A; p.S215N; 17:7674887-7674887 |
oesophagus | carcinoma | Substitution - Missense |
c.578A>C; p.H193P; 17:7674953-7674953 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.800G>T; p.R267L; 17:7673820-7673820 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.800G>T; p.R267L; 17:7673820-7673820 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.800G>T; p.R267L; 17:7673820-7673820 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.578A>C; p.H193P; 17:7674953-7674953 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.578A>C; p.H193P; 17:7674953-7674953 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.559+2T>C; p.?; 17:7675051-7675051 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.898C>G; p.P300A; 17:7673722-7673722 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Substitution - Missense |
c.732C>A; p.G244G; 17:7674231-7674231 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - coding silent |
c.644G>A; p.S215N; 17:7674887-7674887 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.578A>C; p.H193P; 17:7674953-7674953 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.800G>T; p.R267L; 17:7673820-7673820 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.288T>C; p.S96S; 17:7676081-7676081 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.578A>C; p.H193P; 17:7674953-7674953 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.310C>T; p.Q104*; 17:7676059-7676059 |
breast | carcinoma | Substitution - Nonsense |
c.873G>A; p.K291K; 17:7673747-7673747 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.578A>C; p.H193P; 17:7674953-7674953 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.578A>C; p.H193P; 17:7674953-7674953 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.800G>T; p.R267L; 17:7673820-7673820 |
liver | carcinoma | Substitution - Missense |
c.757A>C; p.T253P; 17:7674206-7674206 |
small_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.310C>T; p.Q104*; 17:7676059-7676059 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.405_406insN; p.Q136fs*13; 17:7675206-7675207 |
ovary | carcinoma | Insertion - Frameshift |
c.644G>A; p.S215N; 17:7674887-7674887 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.310C>T; p.Q104*; 17:7676059-7676059 |
lung | carcinoma | Substitution - Nonsense |
c.474C>T; p.R158R; 17:7675138-7675138 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.867_868insNNNNN; p.R290fs*57; 17:7673752-7673753 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Insertion - Frameshift |
c.236C>T; p.A79V; 17:7676133-7676133 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1037A>C; p.E346A; 17:7670672-7670672 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.644G>A; p.S215N; 17:7674887-7674887 |
pancreas | carcinoma | Substitution - Missense |
c.236C>T; p.A79V; 17:7676133-7676133 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.310C>T; p.Q104*; 17:7676059-7676059 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.757A>C; p.T253P; 17:7674206-7674206 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.418delA; p.T140fs*30; 17:7675194-7675194 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.526_544del19; p.C176fs*65; 17:7675068-7675086 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.310C>T; p.Q104*; 17:7676059-7676059 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.561T>C; p.G187G; 17:7674970-7674970 |
large_intestine; rectum | carcinoma | Substitution - coding silent |
c.805A>T; p.S269C; 17:7673815-7673815 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578A>C; p.H193P; 17:7674953-7674953 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.310C>T; p.Q104*; 17:7676059-7676059 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.875A>C; p.K292T; 17:7673745-7673745 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.292C>T; p.P98S; 17:7676077-7676077 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.849C>A; p.R283R; 17:7673771-7673771 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.559+9C>T; p.?; 17:7675044-7675044 |
endometrium | carcinoma; adenocarcinoma | Unknown |
c.393C>A; p.N131K; 17:7675219-7675219 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.310C>T; p.Q104*; 17:7676059-7676059 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.875A>C; p.K292T; 17:7673745-7673745 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.497_498insN; p.Q167fs*14; 17:7675114-7675115 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.919+15C>T; p.?; 17:7673686-7673686 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.288T>C; p.S96S; 17:7676081-7676081 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.644G>A; p.S215N; 17:7674887-7674887 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1083delG; p.S362fs*8; 17:7670626-7670626 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.310C>T; p.Q104*; 17:7676059-7676059 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.805A>T; p.S269C; 17:7673815-7673815 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.622G>C; p.D208H; 17:7674909-7674909 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.520_529del10; p.R174fs*70; 17:7675083-7675092 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.578A>C; p.H193P; 17:7674953-7674953 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.578A>C; p.H193P; 17:7674953-7674953 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.292C>T; p.P98S; 17:7676077-7676077 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.559+2T>C; p.?; 17:7675051-7675051 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.561T>C; p.G187G; 17:7674970-7674970 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.732C>A; p.G244G; 17:7674231-7674231 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.224C>G; p.P75R; 17:7676145-7676145 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.561T>C; p.G187G; 17:7674970-7674970 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.292C>T; p.P98S; 17:7676077-7676077 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.800G>T; p.R267L; 17:7673820-7673820 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.732C>A; p.G244G; 17:7674231-7674231 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - coding silent |
c.474C>T; p.R158R; 17:7675138-7675138 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.875A>C; p.K292T; 17:7673745-7673745 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.805A>T; p.S269C; 17:7673815-7673815 |
ovary | carcinoma | Substitution - Missense |
c.732C>A; p.G244G; 17:7674231-7674231 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.757A>C; p.T253P; 17:7674206-7674206 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.292C>T; p.P98S; 17:7676077-7676077 |
skin; lip | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.474C>T; p.R158R; 17:7675138-7675138 |
ovary | other; neoplasm | Substitution - coding silent |
c.879delG; p.E294fs*51; 17:7673741-7673741 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1083delG; p.S362fs*8; 17:7670626-7670626 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.805A>T; p.S269C; 17:7673815-7673815 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.578A>C; p.H193P; 17:7674953-7674953 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.578A>C; p.H193P; 17:7674953-7674953 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.310C>T; p.Q104*; 17:7676059-7676059 |
oesophagus | carcinoma | Substitution - Nonsense |
c.644G>A; p.S215N; 17:7674887-7674887 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.578A>C; p.H193P; 17:7674953-7674953 |
breast | carcinoma | Substitution - Missense |
c.310C>T; p.Q104*; 17:7676059-7676059 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.702_703insNNNN; p.N235fs*6; 17:7674260-7674261 |
vulva | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.1083delG; p.S362fs*8; 17:7670626-7670626 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.474C>T; p.R158R; 17:7675138-7675138 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.310C>T; p.Q104*; 17:7676059-7676059 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.224C>G; p.P75R; 17:7676145-7676145 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.310C>T; p.Q104*; 17:7676059-7676059 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_myelodysplastic_syndrome_therapy_related_NOS | Substitution - Nonsense |
c.578A>C; p.H193P; 17:7674953-7674953 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.578A>C; p.H193P; 17:7674953-7674953 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.96_97insN; p.S33fs*10; 17:7676272-7676382 |
ovary | carcinoma; clear_cell_carcinoma | Insertion - Frameshift |
c.464C>A; p.T155N; 17:7675148-7675148 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.762_763insN; p.I255fs*9; 17:7674200-7674201 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.464C>A; p.T155N; 17:7675148-7675148 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.854A>T; p.E285V; 17:7673766-7673766 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.464C>A; p.T155N; 17:7675148-7675148 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.625_626delAG; p.R209fs*6; 17:7674905-7674906 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Deletion - Frameshift |
c.625_626delAG; p.R209fs*6; 17:7674905-7674906 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.497C>A; p.S166*; 17:7675115-7675115 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.625_626delAG; p.R209fs*6; 17:7674905-7674906 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.464C>A; p.T155N; 17:7675148-7675148 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.625_626delAG; p.R209fs*6; 17:7674905-7674906 |
thyroid | carcinoma | Deletion - Frameshift |
c.854A>T; p.E285V; 17:7673766-7673766 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.464C>A; p.T155N; 17:7675148-7675148 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.466delC; p.R156fs*14; 17:7675146-7675146 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.497C>A; p.S166*; 17:7675115-7675115 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.464C>A; p.T155N; 17:7675148-7675148 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.625_626delAG; p.R209fs*6; 17:7674905-7674906 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Deletion - Frameshift |
c.464C>A; p.T155N; 17:7675148-7675148 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.390C>T; p.L130L; 17:7675222-7675222 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.625_626delAG; p.R209fs*6; 17:7674905-7674906 |
upper_aerodigestive_tract; pharynx | carcinoma; poorly_differentiated_carcinoma | Deletion - Frameshift |
c.625_626delAG; p.R209fs*6; 17:7674905-7674906 |
ovary | carcinoma | Deletion - Frameshift |
c.672+17G>T; p.?; 17:7674842-7674842 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.466delC; p.R156fs*14; 17:7675146-7675146 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.854A>T; p.E285V; 17:7673766-7673766 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.497C>A; p.S166*; 17:7675115-7675115 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.466delC; p.R156fs*14; 17:7675146-7675146 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.854A>T; p.E285V; 17:7673766-7673766 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.793_915del123; p.L265_K305del41; 17:7673705-7673827 |
breast | carcinoma; ductal_carcinoma | Deletion - In frame |
c.464C>A; p.T155N; 17:7675148-7675148 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.854A>T; p.E285V; 17:7673766-7673766 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.762_763insN; p.I255fs*9; 17:7674200-7674201 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.625_626delAG; p.R209fs*6; 17:7674905-7674906 |
stomach | carcinoid-endocrine_tumour | Deletion - Frameshift |
c.466delC; p.R156fs*14; 17:7675146-7675146 |
skin | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.466delC; p.R156fs*14; 17:7675146-7675146 |
breast | carcinoma | Deletion - Frameshift |
c.466delC; p.R156fs*14; 17:7675146-7675146 |
skin | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.625_626delAG; p.R209fs*6; 17:7674905-7674906 |
breast | carcinoma | Deletion - Frameshift |
c.740_744ACCGG>TTCCC; p.N247_R248>IP; 17:7674219-7674223 |
breast | carcinoma; ductal_carcinoma | Complex - compound substitution |
c.644delG; p.S215fs*32; 17:7674887-7674887 |
ovary | carcinoma; undifferentiated_carcinoma | Deletion - Frameshift |
c.783-1G>A; p.?; 17:7673838-7673838 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.327_328CC>TT; p.R110C; 17:7676041-7676042 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.854A>T; p.E285V; 17:7673766-7673766 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.783-1G>A; p.?; 17:7673838-7673838 |
urinary_tract; bladder | carcinoma | Unknown |
c.854A>T; p.E285V; 17:7673766-7673766 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.466delC; p.R156fs*14; 17:7675146-7675146 |
breast | carcinoma | Deletion - Frameshift |
c.420delC; p.C141fs*29; 17:7675192-7675192 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.382_390delCCTGCCCTC; p.P128_L130delPAL; 17:7675222-7675230 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - In frame |
c.464C>A; p.T155N; 17:7675148-7675148 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.464C>A; p.T155N; 17:7675148-7675148 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.497C>A; p.S166*; 17:7675115-7675115 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.854A>T; p.E285V; 17:7673766-7673766 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.499_503delCAGCA; p.Q167fs*12; 17:7675109-7675113 |
breast | carcinoma | Deletion - Frameshift |
c.854A>T; p.E285V; 17:7673766-7673766 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.854A>T; p.E285V; 17:7673766-7673766 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.625_626delAG; p.R209fs*6; 17:7674905-7674906 |
salivary_gland; major | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.464C>A; p.T155N; 17:7675148-7675148 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.497C>A; p.S166*; 17:7675115-7675115 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.464C>A; p.T155N; 17:7675148-7675148 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.390C>T; p.L130L; 17:7675222-7675222 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.464C>A; p.T155N; 17:7675148-7675148 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.625_626delAG; p.R209fs*6; 17:7674905-7674906 |
stomach | carcinoma | Deletion - Frameshift |
c.762_763insN; p.I255fs*9; 17:7674200-7674201 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.859_887del29; p.E287fs*9; 17:7673733-7673761 |
breast | carcinoma | Deletion - Frameshift |
c.920-1_937del19; p.?; 17:7673591-7673609 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.851C>T; p.T284I; 17:7673769-7673769 |
lung | carcinoma | Substitution - Missense |
c.466delC; p.R156fs*14; 17:7675146-7675146 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.854A>T; p.E285V; 17:7673766-7673766 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.464C>A; p.T155N; 17:7675148-7675148 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.625_626delAG; p.R209fs*6; 17:7674905-7674906 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.464C>A; p.T155N; 17:7675148-7675148 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.625_626delAG; p.R209fs*6; 17:7674905-7674906 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.644delG; p.S215fs*32; 17:7674887-7674887 |
breast | carcinoma | Deletion - Frameshift |
c.466delC; p.R156fs*14; 17:7675146-7675146 |
central_nervous_system; brainstem | glioma; oligoastrocytoma_Grade_III | Deletion - Frameshift |
c.844delC; p.R282fs*63; 17:7673776-7673776 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.464C>A; p.T155N; 17:7675148-7675148 |
pleura | mesothelioma | Substitution - Missense |
c.625_626delAG; p.R209fs*6; 17:7674905-7674906 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.496_497TC>GG; p.S166G; 17:7675115-7675116 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.466delC; p.R156fs*14; 17:7675146-7675146 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.783-1G>A; p.?; 17:7673838-7673838 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.464C>A; p.T155N; 17:7675148-7675148 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.497C>A; p.S166*; 17:7675115-7675115 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.480_481GG>TT; p.M160_A161>IS; 17:7675131-7675132 |
oesophagus | carcinoma; squamous_cell_carcinoma | Complex - compound substitution |
c.464C>A; p.T155N; 17:7675148-7675148 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.497C>A; p.S166*; 17:7675115-7675115 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.464C>A; p.T155N; 17:7675148-7675148 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.854A>T; p.E285V; 17:7673766-7673766 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.464C>A; p.T155N; 17:7675148-7675148 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.464C>A; p.T155N; 17:7675148-7675148 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.783-1G>A; p.?; 17:7673838-7673838 |
urinary_tract; bladder | carcinoma | Unknown |
c.464C>A; p.T155N; 17:7675148-7675148 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.464C>A; p.T155N; 17:7675148-7675148 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.464C>A; p.T155N; 17:7675148-7675148 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.497C>A; p.S166*; 17:7675115-7675115 |
large_intestine; rectum | carcinoma | Substitution - Nonsense |
c.854A>T; p.E285V; 17:7673766-7673766 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.625_626delAG; p.R209fs*6; 17:7674905-7674906 |
soft_tissue | sarcoma | Deletion - Frameshift |
c.854A>T; p.E285V; 17:7673766-7673766 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.497C>A; p.S166*; 17:7675115-7675115 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.625_626delAG; p.R209fs*6; 17:7674905-7674906 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.390C>T; p.L130L; 17:7675222-7675222 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.464C>A; p.T155N; 17:7675148-7675148 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.333G>A; p.L111L; 17:7676036-7676036 |
prostate | hyperplasia | Substitution - coding silent |
c.464C>A; p.T155N; 17:7675148-7675148 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.625_626delAG; p.R209fs*6; 17:7674905-7674906 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.783-1G>A; p.?; 17:7673838-7673838 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.783-1G>A; p.?; 17:7673838-7673838 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.464C>A; p.T155N; 17:7675148-7675148 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.625_626delAG; p.R209fs*6; 17:7674905-7674906 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.625_626delAG; p.R209fs*6; 17:7674905-7674906 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.625_626delAG; p.R209fs*6; 17:7674905-7674906 |
upper_aerodigestive_tract; head_neck | carcinoma | Deletion - Frameshift |
c.854A>T; p.E285V; 17:7673766-7673766 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.625_626delAG; p.R209fs*6; 17:7674905-7674906 |
salivary_gland; parotid | adenoma; pleomorphic | Deletion - Frameshift |
c.625_626delAG; p.R209fs*6; 17:7674905-7674906 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.783-1G>A; p.?; 17:7673838-7673838 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.854A>T; p.E285V; 17:7673766-7673766 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.783-1G>A; p.?; 17:7673838-7673838 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.625_626delAG; p.R209fs*6; 17:7674905-7674906 |
prostate | carcinoma | Deletion - Frameshift |
c.854A>T; p.E285V; 17:7673766-7673766 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.390C>T; p.L130L; 17:7675222-7675222 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.723C>A; p.S241S; 17:7674240-7674240 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1061A>G; p.Q354R; 17:7670648-7670648 |
kidney | Wilms_tumour | Substitution - Missense |
c.517_518GT>TG; p.V173W; 17:7675094-7675095 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.994-1G>T; p.?; 17:7670716-7670716 |
liver | carcinoma | Unknown |
c.485T>A; p.I162N; 17:7675127-7675127 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.721delT; p.S241fs*6; 17:7674242-7674242 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.485T>A; p.I162N; 17:7675127-7675127 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.485T>A; p.I162N; 17:7675127-7675127 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.838_843delAGAGAC; p.D281_R282delDR; 17:7673777-7673782 |
stomach | carcinoma | Deletion - In frame |
c.879G>C; p.G293G; 17:7673741-7673741 |
breast | carcinoma | Substitution - coding silent |
c.711G>C; p.M237I; 17:7674252-7674252 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.657C>G; p.P219P; 17:7674874-7674874 |
breast | carcinoma | Substitution - coding silent |
c.327_328ins14; p.R110fs*18; 17:7676041-7676042 |
breast | carcinoma | Insertion - Frameshift |
c.902C>T; p.P301L; 17:7673718-7673718 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.879G>C; p.G293G; 17:7673741-7673741 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.711G>C; p.M237I; 17:7674252-7674252 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.721delT; p.S241fs*6; 17:7674242-7674242 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.630delC; p.N210fs*37; 17:7674901-7674901 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Deletion - Frameshift |
c.721delT; p.S241fs*6; 17:7674242-7674242 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.500_501insNN; p.Q167fs*4; 17:7675111-7675112 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.663G>A; p.E221E; 17:7674868-7674868 |
thyroid | carcinoma; papillary_carcinoma | Substitution - coding silent |
c.721delT; p.S241fs*6; 17:7674242-7674242 |
breast | carcinoma | Deletion - Frameshift |
c.444T>G; p.D148E; 17:7675168-7675168 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.838_843delAGAGAC; p.D281_R282delDR; 17:7673777-7673782 |
breast | carcinoma | Deletion - In frame |
c.711G>C; p.M237I; 17:7674252-7674252 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.485T>A; p.I162N; 17:7675127-7675127 |
pancreas | carcinoma | Substitution - Missense |
c.817_818insN; p.R273fs*33; 17:7673802-7673803 |
prostate | carcinoma | Insertion - Frameshift |
c.711G>C; p.M237I; 17:7674252-7674252 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ | Substitution - Missense |
c.879G>C; p.G293G; 17:7673741-7673741 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.434_435TG>GT; p.L145R; 17:7675177-7675178 |
skin | malignant_melanoma | Substitution - Missense |
c.711G>C; p.M237I; 17:7674252-7674252 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ | Substitution - Missense |
c.994-1G>T; p.?; 17:7670716-7670716 |
lung | carcinoma; adenocarcinoma | Unknown |
c.749_750CC>AG; p.P250Q; 17:7674213-7674214 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1061A>G; p.Q354R; 17:7670648-7670648 |
breast | carcinoma | Substitution - Missense |
c.711G>C; p.M237I; 17:7674252-7674252 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.711G>C; p.M237I; 17:7674252-7674252 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.485T>A; p.I162N; 17:7675127-7675127 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.97-2delA; p.?; 17:7676274-7676274 |
stomach | carcinoma; intestinal_adenocarcinoma | Unknown |
c.430_460del31; p.Q144fs*16; 17:7675152-7675182 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.711G>C; p.M237I; 17:7674252-7674252 |
breast | carcinoma | Substitution - Missense |
c.721delT; p.S241fs*6; 17:7674242-7674242 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.704A>C; p.N235T; 17:7674259-7674259 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.749_750CC>AG; p.P250Q; 17:7674213-7674214 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.685_686insA; p.C229fs*1; 17:7674277-7674278 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.444T>G; p.D148E; 17:7675168-7675168 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.485T>A; p.I162N; 17:7675127-7675127 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.560-34_560-13del22; p.?; 17:7674984-7675005 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.721delT; p.S241fs*6; 17:7674242-7674242 |
breast | carcinoma | Deletion - Frameshift |
c.704A>C; p.N235T; 17:7674259-7674259 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.721delT; p.S241fs*6; 17:7674242-7674242 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.663G>A; p.E221E; 17:7674868-7674868 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.994-1G>T; p.?; 17:7670716-7670716 |
liver | carcinoma | Unknown |
c.485T>A; p.I162N; 17:7675127-7675127 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.485T>A; p.I162N; 17:7675127-7675127 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.721delT; p.S241fs*6; 17:7674242-7674242 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.485T>A; p.I162N; 17:7675127-7675127 |
pancreas | carcinoma | Substitution - Missense |
c.386C>G; p.A129G; 17:7675226-7675226 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.704A>C; p.N235T; 17:7674259-7674259 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.884C>A; p.P295H; 17:7673736-7673736 |
soft_tissue; striated_muscle | rhabdomyosarcoma; alveolar | Substitution - Missense |
c.721delT; p.S241fs*6; 17:7674242-7674242 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Deletion - Frameshift |
c.711G>C; p.M237I; 17:7674252-7674252 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.540_551del12; p.E180_S183delERCS; 17:7675061-7675072 |
lung | carcinoma; pleomorphic_carcinoma | Deletion - In frame |
c.700T>A; p.Y234N; 17:7674263-7674263 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
breast | carcinoma | Substitution - Nonsense |
c.700T>C; p.Y234H; 17:7674263-7674263 |
skin | malignant_melanoma | Substitution - Missense |
c.700T>C; p.Y234H; 17:7674263-7674263 |
skin; head_neck | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.848G>A; p.R283H; 17:7673772-7673772 |
stomach | carcinoma; papillary_adenocarcinoma | Substitution - Missense |
c.518T>C; p.V173A; 17:7675094-7675094 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.489C>G; p.Y163*; 17:7675123-7675123 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.518T>C; p.V173A; 17:7675094-7675094 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
oesophagus | carcinoma | Substitution - Nonsense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - Nonsense |
c.873delG; p.E294fs*51; 17:7673747-7673747 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.800G>A; p.R267Q; 17:7673820-7673820 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.832C>G; p.P278A; 17:7673788-7673788 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.832C>G; p.P278A; 17:7673788-7673788 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.786_787TA>AC; p.N263H; 17:7673833-7673834 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.646G>T; p.V216L; 17:7674885-7674885 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.518T>C; p.V173A; 17:7675094-7675094 |
prostate | carcinoma | Substitution - Missense |
c.848G>A; p.R283H; 17:7673772-7673772 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.848G>A; p.R283H; 17:7673772-7673772 |
lung | carcinoma; pleomorphic_carcinoma | Substitution - Missense |
c.848G>A; p.R283H; 17:7673772-7673772 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.832C>G; p.P278A; 17:7673788-7673788 |
breast | carcinoma | Substitution - Missense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
breast | carcinoma | Substitution - Nonsense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.426T>C; p.P142P; 17:7675186-7675186 |
prostate | carcinoma | Substitution - coding silent |
c.518T>C; p.V173A; 17:7675094-7675094 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.700T>A; p.Y234N; 17:7674263-7674263 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.173_174ins11; p.E62fs*65; 17:7676195-7676196 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Insertion - Frameshift |
c.518T>C; p.V173A; 17:7675094-7675094 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.700T>C; p.Y234H; 17:7674263-7674263 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.646G>T; p.V216L; 17:7674885-7674885 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.700T>A; p.Y234N; 17:7674263-7674263 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.124G>T; p.D42Y; 17:7676245-7676245 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.832C>G; p.P278A; 17:7673788-7673788 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
pancreas | carcinoma | Substitution - Nonsense |
c.700T>C; p.Y234H; 17:7674263-7674263 |
skin; arm | other; keratosis | Substitution - Missense |
c.832C>G; p.P278A; 17:7673788-7673788 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.700T>C; p.Y234H; 17:7674263-7674263 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.646G>T; p.V216L; 17:7674885-7674885 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
skin; head_neck | other; keratosis | Substitution - Nonsense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
pancreas | carcinoma | Substitution - Nonsense |
c.848G>A; p.R283H; 17:7673772-7673772 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.312delG; p.G105fs*18; 17:7676057-7676057 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.493C>T; p.Q165*; 17:7675119-7675119 |
breast | carcinoma | Substitution - Nonsense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
lung | carcinoid-endocrine_tumour; atypical | Substitution - Nonsense |
c.848G>A; p.R283H; 17:7673772-7673772 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.800G>A; p.R267Q; 17:7673820-7673820 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.518T>C; p.V173A; 17:7675094-7675094 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.356C>T; p.A119V; 17:7676013-7676013 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.700T>C; p.Y234H; 17:7674263-7674263 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
pancreas | carcinoma | Substitution - Nonsense |
c.518T>C; p.V173A; 17:7675094-7675094 |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_III | Substitution - Missense |
c.848G>A; p.R283H; 17:7673772-7673772 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.700T>A; p.Y234N; 17:7674263-7674263 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.832C>G; p.P278A; 17:7673788-7673788 |
breast | carcinoma | Substitution - Missense |
c.700T>A; p.Y234N; 17:7674263-7674263 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.832C>G; p.P278A; 17:7673788-7673788 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.700T>A; p.Y234N; 17:7674263-7674263 |
liver | carcinoma | Substitution - Missense |
c.700T>C; p.Y234H; 17:7674263-7674263 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.832C>G; p.P278A; 17:7673788-7673788 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.646G>T; p.V216L; 17:7674885-7674885 |
breast | carcinoma | Substitution - Missense |
c.700T>A; p.Y234N; 17:7674263-7674263 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.832C>G; p.P278A; 17:7673788-7673788 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.800G>A; p.R267Q; 17:7673820-7673820 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.426T>C; p.P142P; 17:7675186-7675186 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - coding silent |
c.810_811insT; p.E271fs*1; 17:7673809-7673810 |
breast | carcinoma | Insertion - Frameshift |
c.582T>G; p.L194L; 17:7674949-7674949 |
breast | carcinoma; medullary_carcinoma | Substitution - coding silent |
c.518T>C; p.V173A; 17:7675094-7675094 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.832C>G; p.P278A; 17:7673788-7673788 |
liver | carcinoma | Substitution - Missense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.700T>C; p.Y234H; 17:7674263-7674263 |
liver | carcinoma | Substitution - Missense |
c.848G>A; p.R283H; 17:7673772-7673772 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.700T>C; p.Y234H; 17:7674263-7674263 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.800G>A; p.R267Q; 17:7673820-7673820 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.700T>A; p.Y234N; 17:7674263-7674263 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.312delG; p.G105fs*18; 17:7676057-7676057 |
skin; face | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.700T>A; p.Y234N; 17:7674263-7674263 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.495G>C; p.Q165H; 17:7675117-7675117 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.958_959insNN; p.K320fs*26; 17:7673569-7673570 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.646G>T; p.V216L; 17:7674885-7674885 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.700T>C; p.Y234H; 17:7674263-7674263 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.800G>A; p.R267Q; 17:7673820-7673820 |
ovary | carcinoma | Substitution - Missense |
c.700T>C; p.Y234H; 17:7674263-7674263 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.832C>G; p.P278A; 17:7673788-7673788 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.832C>G; p.P278A; 17:7673788-7673788 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.800G>A; p.R267Q; 17:7673820-7673820 |
oesophagus | carcinoma | Substitution - Missense |
c.832C>G; p.P278A; 17:7673788-7673788 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.700T>C; p.Y234H; 17:7674263-7674263 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.832C>G; p.P278A; 17:7673788-7673788 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.518T>C; p.V173A; 17:7675094-7675094 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.832C>G; p.P278A; 17:7673788-7673788 |
ovary | carcinoma | Substitution - Missense |
c.700T>C; p.Y234H; 17:7674263-7674263 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.700T>A; p.Y234N; 17:7674263-7674263 |
skin | other; keratoacanthoma | Substitution - Missense |
c.783_806del24; p.G262_S269delGNLLGR17:7673814-7673837 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.868delC; p.R290fs*55; 17:7673752-7673752 |
breast | carcinoma | Deletion - Frameshift |
c.700T>A; p.Y234N; 17:7674263-7674263 |
breast | carcinoma | Substitution - Missense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.853delG; p.E285fs*60; 17:7673767-7673767 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.472_473CG>TT; p.R158F; 17:7675139-7675140 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.832C>G; p.P278A; 17:7673788-7673788 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469_528del60; p.V157_C176del20; 17:7675084-7675143 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.518T>C; p.V173A; 17:7675094-7675094 |
liver | carcinoma | Substitution - Missense |
c.179C>A; p.P60Q; 17:7676190-7676190 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.856delG; p.E286fs*59; 17:7673764-7673764 |
lung | carcinoma; small_cell_carcinoma | Deletion - Frameshift |
c.800G>A; p.R267Q; 17:7673820-7673820 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.700T>C; p.Y234H; 17:7674263-7674263 |
prostate | carcinoma | Substitution - Missense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Nonsense |
c.646G>T; p.V216L; 17:7674885-7674885 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.848G>A; p.R283H; 17:7673772-7673772 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.832C>G; p.P278A; 17:7673788-7673788 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.800G>A; p.R267Q; 17:7673820-7673820 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.700T>C; p.Y234H; 17:7674263-7674263 |
ovary | other; neoplasm | Substitution - Missense |
c.853delG; p.E285fs*60; 17:7673767-7673767 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.700T>C; p.Y234H; 17:7674263-7674263 |
skin; arm | other; keratosis | Substitution - Missense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Nonsense |
c.700T>A; p.Y234N; 17:7674263-7674263 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.489C>G; p.Y163*; 17:7675123-7675123 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
pancreas | carcinoma | Substitution - Nonsense |
c.800G>A; p.R267Q; 17:7673820-7673820 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.489C>G; p.Y163*; 17:7675123-7675123 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Nonsense |
c.832C>G; p.P278A; 17:7673788-7673788 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832C>G; p.P278A; 17:7673788-7673788 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour | Substitution - Missense |
c.958_959insNN; p.K320fs*26; 17:7673569-7673570 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.832C>G; p.P278A; 17:7673788-7673788 |
breast | carcinoma | Substitution - Missense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.832C>G; p.P278A; 17:7673788-7673788 |
liver | carcinoma | Substitution - Missense |
c.700T>C; p.Y234H; 17:7674263-7674263 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.489C>G; p.Y163*; 17:7675123-7675123 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.518T>C; p.V173A; 17:7675094-7675094 |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_III | Substitution - Missense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
ovary | other; neoplasm | Substitution - Nonsense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
soft_tissue | sarcoma | Substitution - Nonsense |
c.812delA; p.E271fs*74; 17:7673808-7673808 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Deletion - Frameshift |
c.518T>C; p.V173A; 17:7675094-7675094 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.848G>A; p.R283H; 17:7673772-7673772 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.700T>C; p.Y234H; 17:7674263-7674263 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.832C>G; p.P278A; 17:7673788-7673788 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.832C>G; p.P278A; 17:7673788-7673788 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.489C>G; p.Y163*; 17:7675123-7675123 |
stomach | carcinoma | Substitution - Nonsense |
c.700T>C; p.Y234H; 17:7674263-7674263 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.832C>G; p.P278A; 17:7673788-7673788 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.646G>T; p.V216L; 17:7674885-7674885 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.800G>A; p.R267Q; 17:7673820-7673820 |
breast | carcinoma | Substitution - Missense |
c.700T>C; p.Y234H; 17:7674263-7674263 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; MALT_lymphoma | Substitution - Missense |
c.856delG; p.E286fs*59; 17:7673764-7673764 |
breast | carcinoma | Deletion - Frameshift |
c.493C>T; p.Q165*; 17:7675119-7675119 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.700T>C; p.Y234H; 17:7674263-7674263 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.800G>A; p.R267Q; 17:7673820-7673820 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.518T>C; p.V173A; 17:7675094-7675094 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.800G>A; p.R267Q; 17:7673820-7673820 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.800G>A; p.R267Q; 17:7673820-7673820 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.700T>A; p.Y234N; 17:7674263-7674263 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.646G>T; p.V216L; 17:7674885-7674885 |
breast | carcinoma | Substitution - Missense |
c.518T>C; p.V173A; 17:7675094-7675094 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832C>G; p.P278A; 17:7673788-7673788 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.848G>A; p.R283H; 17:7673772-7673772 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.700T>A; p.Y234N; 17:7674263-7674263 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.700T>C; p.Y234H; 17:7674263-7674263 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
breast | carcinoma | Substitution - Nonsense |
c.868_883>N; p.R290_P295>X; 17:7673737-7673752 |
endometrium | carcinoma; mixed_cell_carcinoma | Complex - deletion inframe |
c.493C>T; p.Q165*; 17:7675119-7675119 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.847_865del19; p.R283fs*56; 17:7673755-7673773 |
breast | carcinoma | Deletion - Frameshift |
c.700T>C; p.Y234H; 17:7674263-7674263 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
salivary_gland; parotid | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.493C>T; p.Q165*; 17:7675119-7675119 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.700T>A; p.Y234N; 17:7674263-7674263 |
eye; conjunctiva | other; pterygium | Substitution - Missense |
c.832C>G; p.P278A; 17:7673788-7673788 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.848G>A; p.R283H; 17:7673772-7673772 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.853G>T; p.E285*; 17:7673767-7673767 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.524G>T; p.R175L; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>T; p.R175L; 17:7675088-7675088 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.524G>T; p.R175L; 17:7675088-7675088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>T; p.E285*; 17:7673767-7673767 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.853G>T; p.E285*; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.853G>T; p.E285*; 17:7673767-7673767 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.667C>G; p.P223A; 17:7674864-7674864 |
stomach | carcinoma | Substitution - Missense |
c.524G>T; p.R175L; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.548C>T; p.S183L; 17:7675064-7675064 |
breast | carcinoma | Substitution - Missense |
c.524G>T; p.R175L; 17:7675088-7675088 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.672+17G>C; p.?; 17:7674842-7674842 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.743_744GG>AA; p.R248Q; 17:7674219-7674220 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.740A>T; p.N247I; 17:7674223-7674223 |
oesophagus | carcinoma | Substitution - Missense |
c.853G>T; p.E285*; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.524G>T; p.R175L; 17:7675088-7675088 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.721T>C; p.S241P; 17:7674242-7674242 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.524G>T; p.R175L; 17:7675088-7675088 |
oesophagus | other; hyperplasia | Substitution - Missense |
c.743_744GG>AA; p.R248Q; 17:7674219-7674220 |
skin; arm | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.853G>T; p.E285*; 17:7673767-7673767 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.853G>T; p.E285*; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.743_744GG>AA; p.R248Q; 17:7674219-7674220 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.853G>T; p.E285*; 17:7673767-7673767 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.853G>T; p.E285*; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.853G>T; p.E285*; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.733_734GG>CT; p.G245L; 17:7674229-7674230 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.740A>T; p.N247I; 17:7674223-7674223 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.740A>T; p.N247I; 17:7674223-7674223 |
ovary | other; neoplasm | Substitution - Missense |
c.853G>T; p.E285*; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.853G>T; p.E285*; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.853G>T; p.E285*; 17:7673767-7673767 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.548C>T; p.S183L; 17:7675064-7675064 |
prostate | carcinoma | Substitution - Missense |
c.356C>G; p.A119G; 17:7676013-7676013 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.524G>T; p.R175L; 17:7675088-7675088 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.721T>C; p.S241P; 17:7674242-7674242 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.524G>T; p.R175L; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.700T>G; p.Y234D; 17:7674263-7674263 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.853G>T; p.E285*; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.728T>G; p.M243R; 17:7674235-7674235 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.835_840delGGGAGA; p.G279_R280delGR; 17:7673780-7673785 |
breast | carcinoma | Deletion - In frame |
c.740A>T; p.N247I; 17:7674223-7674223 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.524G>T; p.R175L; 17:7675088-7675088 |
lung; bronchus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.853G>T; p.E285*; 17:7673767-7673767 |
prostate | in_situ_neoplasm; glandular_intraepithelial_neoplasia_Grade_III | Substitution - Nonsense |
c.853G>T; p.E285*; 17:7673767-7673767 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.524G>T; p.R175L; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.853G>T; p.E285*; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.740A>T; p.N247I; 17:7674223-7674223 |
breast | carcinoma | Substitution - Missense |
c.853G>T; p.E285*; 17:7673767-7673767 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.466_468delCGC; p.R156delR; 17:7675144-7675146 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.740A>T; p.N247I; 17:7674223-7674223 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.700T>G; p.Y234D; 17:7674263-7674263 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.524G>T; p.R175L; 17:7675088-7675088 |
lung | carcinoma; pleomorphic_carcinoma | Substitution - Missense |
c.721T>C; p.S241P; 17:7674242-7674242 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.469_470insC; p.V157fs*24; 17:7675142-7675143 |
breast | carcinoma | Insertion - Frameshift |
c.740A>T; p.N247I; 17:7674223-7674223 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.524G>T; p.R175L; 17:7675088-7675088 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>T; p.R175L; 17:7675088-7675088 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>T; p.R175L; 17:7675088-7675088 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.524G>T; p.R175L; 17:7675088-7675088 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.524G>T; p.R175L; 17:7675088-7675088 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.524G>T; p.R175L; 17:7675088-7675088 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.579_580insN; p.L194fs*15; 17:7674951-7674952 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.743_744GG>AA; p.R248Q; 17:7674219-7674220 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524G>T; p.R175L; 17:7675088-7675088 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.853G>T; p.E285*; 17:7673767-7673767 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.853G>T; p.E285*; 17:7673767-7673767 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.743_744GG>AA; p.R248Q; 17:7674219-7674220 |
skin; trunk | other; normal | Substitution - Missense |
c.853G>T; p.E285*; 17:7673767-7673767 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.416_417insA; p.T140fs*9; 17:7675195-7675196 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.740A>T; p.N247I; 17:7674223-7674223 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.721T>C; p.S241P; 17:7674242-7674242 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.853G>T; p.E285*; 17:7673767-7673767 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.728T>G; p.M243R; 17:7674235-7674235 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.743_744GG>AA; p.R248Q; 17:7674219-7674220 |
skin; eye | other; normal | Substitution - Missense |
c.524G>T; p.R175L; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.721T>C; p.S241P; 17:7674242-7674242 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.700T>G; p.Y234D; 17:7674263-7674263 |
kidney | Wilms_tumour | Substitution - Missense |
c.853G>T; p.E285*; 17:7673767-7673767 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Nonsense |
c.853G>T; p.E285*; 17:7673767-7673767 |
breast | carcinoma | Substitution - Nonsense |
c.853G>T; p.E285*; 17:7673767-7673767 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.700T>G; p.Y234D; 17:7674263-7674263 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>T; p.E285*; 17:7673767-7673767 |
prostate | in_situ_neoplasm; glandular_intraepithelial_neoplasia_Grade_III | Substitution - Nonsense |
c.889C>A; p.H297N; 17:7673731-7673731 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.817_825delCGTGTTTGT; p.R273_C275delRVC; 17:7673795-7673803 |
skin; leg | adnexal_tumour; malignant_adnexal_tumour | Deletion - In frame |
c.857A>T; p.E286V; 17:7673763-7673763 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.846G>A; p.R282R; 17:7673774-7673774 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.1025_1026delGA; p.E343fs*3; 17:7670683-7670684 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.782+2T>A; p.?; 17:7674179-7674179 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Unknown |
c.846G>A; p.R282R; 17:7673774-7673774 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.410_411insNNN; p.L137_A138insX; 17:7675201-7675202 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Insertion - In frame |
c.857A>T; p.E286V; 17:7673763-7673763 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.718A>T; p.S240C; 17:7674245-7674245 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.863A>G; p.N288S; 17:7673757-7673757 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.718A>T; p.S240C; 17:7674245-7674245 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.978_979insN; p.Y327fs*10; 17:7673549-7673550 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.857A>T; p.E286V; 17:7673763-7673763 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.688A>T; p.T230S; 17:7674275-7674275 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.323delG; p.G108fs*15; 17:7676046-7676046 |
breast | carcinoma | Deletion - Frameshift |
c.338_339TC>GT; p.F113C; 17:7676030-7676031 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.688A>T; p.T230S; 17:7674275-7674275 |
breast | carcinoma | Substitution - Missense |
c.863A>G; p.N288S; 17:7673757-7673757 |
prostate | carcinoma | Substitution - Missense |
c.863A>G; p.N288S; 17:7673757-7673757 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.857A>T; p.E286V; 17:7673763-7673763 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.853_871del19; p.E285fs*54; 17:7673749-7673767 |
breast | carcinoma | Deletion - Frameshift |
c.323delG; p.G108fs*15; 17:7676046-7676046 |
breast | carcinoma | Deletion - Frameshift |
c.832_833insTC; p.P278fs*68; 17:7673787-7673788 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.749C>A; p.P250H; 17:7674214-7674214 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.857A>T; p.E286V; 17:7673763-7673763 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.857A>T; p.E286V; 17:7673763-7673763 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.323delG; p.G108fs*15; 17:7676046-7676046 |
breast | carcinoma | Deletion - Frameshift |
c.749C>A; p.P250H; 17:7674214-7674214 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.857A>T; p.E286V; 17:7673763-7673763 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.364G>A; p.V122M; 17:7676005-7676005 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.738G>T; p.M246I; 17:7674225-7674225 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.846G>A; p.R282R; 17:7673774-7673774 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.857A>T; p.E286V; 17:7673763-7673763 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.857A>T; p.E286V; 17:7673763-7673763 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.338_339TC>GT; p.F113C; 17:7676030-7676031 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.718A>T; p.S240C; 17:7674245-7674245 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.583A>C; p.I195L; 17:7674948-7674948 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.97-1G>T; p.?; 17:7676273-7676273 |
liver | carcinoma | Unknown |
c.863A>G; p.N288S; 17:7673757-7673757 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.866T>G; p.L289R; 17:7673754-7673754 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.97-1G>T; p.?; 17:7676273-7676273 |
liver | carcinoma | Unknown |
c.863A>G; p.N288S; 17:7673757-7673757 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.862_863insA; p.N288fs*18; 17:7673757-7673758 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.406_409delCAAC; p.Q136fs*33; 17:7675203-7675206 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.430_432delCAG; p.Q144delQ; 17:7675180-7675182 |
breast | carcinoma | Deletion - In frame |
c.846G>A; p.R282R; 17:7673774-7673774 |
soft_tissue; fat | liposarcoma | Substitution - coding silent |
c.447_448insN; p.T150fs*31; 17:7675164-7675165 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.738G>T; p.M246I; 17:7674225-7674225 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.863A>G; p.N288S; 17:7673757-7673757 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.470T>A; p.V157D; 17:7675142-7675142 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.494A>T; p.Q165L; 17:7675118-7675118 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; MALT_lymphoma | Substitution - Missense |
c.306delC; p.Y103fs*20; 17:7676063-7676063 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.764T>C; p.I255T; 17:7674199-7674199 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.306delC; p.Y103fs*20; 17:7676063-7676063 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.470T>A; p.V157D; 17:7675142-7675142 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.455C>A; p.P152Q; 17:7675157-7675157 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.560-1G>C; p.?; 17:7674972-7674972 |
lung | carcinoma; adenocarcinoma | Unknown |
c.764T>C; p.I255T; 17:7674199-7674199 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.470T>A; p.V157D; 17:7675142-7675142 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.919_937del19; p.L308fs*31; 17:7673591-7673701 |
upper_aerodigestive_tract; head_neck | carcinoma | Deletion - Frameshift |
c.306delC; p.Y103fs*20; 17:7676063-7676063 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.560-1G>C; p.?; 17:7674972-7674972 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.560-1G>C; p.?; 17:7674972-7674972 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.821T>G; p.V274G; 17:7673799-7673799 |
haematopoietic_and_lymphoid_tissue; thyroid | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.453C>T; p.P151P; 17:7675159-7675159 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.453C>T; p.P151P; 17:7675159-7675159 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.455C>A; p.P152Q; 17:7675157-7675157 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.821T>G; p.V274G; 17:7673799-7673799 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.470T>A; p.V157D; 17:7675142-7675142 |
breast | carcinoma | Substitution - Missense |
c.821T>G; p.V274G; 17:7673799-7673799 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.560-1G>C; p.?; 17:7674972-7674972 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.453C>T; p.P151P; 17:7675159-7675159 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.821T>G; p.V274G; 17:7673799-7673799 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.455C>A; p.P152Q; 17:7675157-7675157 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.764T>C; p.I255T; 17:7674199-7674199 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.453C>T; p.P151P; 17:7675159-7675159 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.306delC; p.Y103fs*20; 17:7676063-7676063 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.764T>C; p.I255T; 17:7674199-7674199 |
breast | carcinoma | Substitution - Missense |
c.764T>C; p.I255T; 17:7674199-7674199 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.470T>A; p.V157D; 17:7675142-7675142 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.306delC; p.Y103fs*20; 17:7676063-7676063 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.494A>T; p.Q165L; 17:7675118-7675118 |
salivary_gland; parotid | carcinoma; mucoepidermoid_carcinoma | Substitution - Missense |
c.455C>A; p.P152Q; 17:7675157-7675157 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.470T>A; p.V157D; 17:7675142-7675142 |
prostate | carcinoma | Substitution - Missense |
c.806_808delGCT; p.S269_F270>I; 17:7673812-7673814 |
large_intestine; rectum | carcinoma; adenocarcinoma | Complex - deletion inframe |
c.306delC; p.Y103fs*20; 17:7676063-7676063 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.897_898insN; p.P300fs*6; 17:7673722-7673723 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.821T>G; p.V274G; 17:7673799-7673799 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.306delC; p.Y103fs*20; 17:7676063-7676063 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Deletion - Frameshift |
c.532_534delCAC; p.H179delH; 17:7675078-7675080 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.764T>C; p.I255T; 17:7674199-7674199 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.821T>G; p.V274G; 17:7673799-7673799 |
endometrium | carcinoma | Substitution - Missense |
c.806_808delGCT; p.S269_F270>I; 17:7673812-7673814 |
large_intestine; rectum | carcinoma; adenocarcinoma | Complex - deletion inframe |
c.142G>A; p.D48N; 17:7676227-7676227 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.560-1G>C; p.?; 17:7674972-7674972 |
breast | carcinoma | Unknown |
c.1101-2A>C; p.?; 17:7669692-7669692 |
large_intestine; colon | carcinoma | Unknown |
c.306delC; p.Y103fs*20; 17:7676063-7676063 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.494A>T; p.Q165L; 17:7675118-7675118 |
soft_tissue; blood_vessel | Kaposi_sarcoma | Substitution - Missense |
c.142G>A; p.D48N; 17:7676227-7676227 |
skin | malignant_melanoma | Substitution - Missense |
c.810T>G; p.F270L; 17:7673810-7673810 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.455C>A; p.P152Q; 17:7675157-7675157 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.453C>T; p.P151P; 17:7675159-7675159 |
thyroid | carcinoma | Substitution - coding silent |
c.453C>T; p.P151P; 17:7675159-7675159 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.470T>A; p.V157D; 17:7675142-7675142 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.821T>G; p.V274G; 17:7673799-7673799 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.470T>A; p.V157D; 17:7675142-7675142 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.810T>G; p.F270L; 17:7673810-7673810 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.186A>C; p.E62D; 17:7676183-7676183 |
salivary_gland; parotid | carcinoma; acinic_cell_carcinoma | Substitution - Missense |
c.453C>T; p.P151P; 17:7675159-7675159 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - coding silent |
c.453C>T; p.P151P; 17:7675159-7675159 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.560-1G>C; p.?; 17:7674972-7674972 |
breast | carcinoma | Unknown |
c.810T>G; p.F270L; 17:7673810-7673810 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.810T>G; p.F270L; 17:7673810-7673810 |
urinary_tract; bladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.764T>C; p.I255T; 17:7674199-7674199 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.821T>G; p.V274G; 17:7673799-7673799 |
prostate | carcinoma | Substitution - Missense |
c.306delC; p.Y103fs*20; 17:7676063-7676063 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.432G>A; p.Q144Q; 17:7675180-7675180 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.726C>A; p.C242*; 17:7674237-7674237 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.560-1G>A; p.?; 17:7674972-7674972 |
lung | carcinoma; undifferentiated_carcinoma | Unknown |
c.560-1G>A; p.?; 17:7674972-7674972 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.746G>A; p.R249K; 17:7674217-7674217 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.702C>T; p.Y234Y; 17:7674261-7674261 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.396G>T; p.K132N; 17:7675216-7675216 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.31G>C; p.E11Q; 17:7676564-7676564 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.831T>A; p.C277*; 17:7673789-7673789 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.396G>T; p.K132N; 17:7675216-7675216 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.396G>T; p.K132N; 17:7675216-7675216 |
ovary | other; neoplasm | Substitution - Missense |
c.560-1G>A; p.?; 17:7674972-7674972 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.560-1G>A; p.?; 17:7674972-7674972 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.377A>C; p.Y126S; 17:7675235-7675235 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.894G>A; p.E298E; 17:7673726-7673726 |
breast | carcinoma | Substitution - coding silent |
c.922C>G; p.L308V; 17:7673606-7673606 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - Missense |
c.31G>C; p.E11Q; 17:7676564-7676564 |
breast | carcinoma | Substitution - Missense |
c.781_782+7delAGGTCAGGA; p.?; 17:7674174-7674182 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Unknown |
c.560-1G>A; p.?; 17:7674972-7674972 |
genital_tract; extragonadal | germ_cell_tumour; yolk_sac_tumour | Unknown |
c.746G>A; p.R249K; 17:7674217-7674217 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.31G>C; p.E11Q; 17:7676564-7676564 |
lung | carcinoma | Substitution - Missense |
c.746G>A; p.R249K; 17:7674217-7674217 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.396G>T; p.K132N; 17:7675216-7675216 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.396G>T; p.K132N; 17:7675216-7675216 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.377A>C; p.Y126S; 17:7675235-7675235 |
liver | carcinoma | Substitution - Missense |
c.31G>C; p.E11Q; 17:7676564-7676564 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.214delC; p.V73fs*50; 17:7676155-7676155 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.560-1G>A; p.?; 17:7674972-7674972 |
ovary | other; neoplasm | Unknown |
c.31G>C; p.E11Q; 17:7676564-7676564 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.560-1G>A; p.?; 17:7674972-7674972 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.760_762delATC; p.I255delI; 17:7674201-7674203 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.396G>T; p.K132N; 17:7675216-7675216 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.396G>T; p.K132N; 17:7675216-7675216 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.854A>G; p.E285G; 17:7673766-7673766 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.396G>T; p.K132N; 17:7675216-7675216 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.746G>A; p.R249K; 17:7674217-7674217 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.429_430GC>TT; p.Q144*; 17:7675182-7675183 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.748_749CC>TT; p.P250F; 17:7674214-7674215 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.429_430GC>TT; p.Q144*; 17:7675182-7675183 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.831T>A; p.C277*; 17:7673789-7673789 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.688_698del11; p.T230fs*6; 17:7674265-7674275 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.748_749CC>TT; p.P250F; 17:7674214-7674215 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.396G>T; p.K132N; 17:7675216-7675216 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.824delG; p.C275fs*70; 17:7673796-7673796 |
oesophagus | carcinoma | Deletion - Frameshift |
c.702C>T; p.Y234Y; 17:7674261-7674261 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - coding silent |
c.560-1G>A; p.?; 17:7674972-7674972 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm | Unknown |
c.746G>A; p.R249K; 17:7674217-7674217 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Missense |
c.560-1G>A; p.?; 17:7674972-7674972 |
oesophagus | carcinoma | Unknown |
c.229C>G; p.P77A; 17:7676140-7676140 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.31G>C; p.E11Q; 17:7676564-7676564 |
genital_tract; extragonadal | germ_cell_tumour; mixed | Substitution - Missense |
c.396G>T; p.K132N; 17:7675216-7675216 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.746G>A; p.R249K; 17:7674217-7674217 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.1060C>A; p.Q354K; 17:7670649-7670649 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.396G>T; p.K132N; 17:7675216-7675216 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.560-1G>A; p.?; 17:7674972-7674972 |
breast | carcinoma | Unknown |
c.560-1G>A; p.?; 17:7674972-7674972 |
ovary | other; neoplasm | Unknown |
c.746G>A; p.R249K; 17:7674217-7674217 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.746G>A; p.R249K; 17:7674217-7674217 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.396G>T; p.K132N; 17:7675216-7675216 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.854A>G; p.E285G; 17:7673766-7673766 |
stomach | carcinoma | Substitution - Missense |
c.560-1G>A; p.?; 17:7674972-7674972 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.396G>T; p.K132N; 17:7675216-7675216 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.748_749CC>TT; p.P250F; 17:7674214-7674215 |
eye; conjunctiva | other; pterygium | Substitution - Missense |
c.831T>A; p.C277*; 17:7673789-7673789 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.396G>T; p.K132N; 17:7675216-7675216 |
kidney | other; neoplasm | Substitution - Missense |
c.726C>A; p.C242*; 17:7674237-7674237 |
breast | carcinoma | Substitution - Nonsense |
c.229C>G; p.P77A; 17:7676140-7676140 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.831T>A; p.C277*; 17:7673789-7673789 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.854A>G; p.E285G; 17:7673766-7673766 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.560-1G>A; p.?; 17:7674972-7674972 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.560-1G>A; p.?; 17:7674972-7674972 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.396G>T; p.K132N; 17:7675216-7675216 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.396G>T; p.K132N; 17:7675216-7675216 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.31G>C; p.E11Q; 17:7676564-7676564 |
genital_tract; extragonadal | germ_cell_tumour; seminoma | Substitution - Missense |
c.560-1G>A; p.?; 17:7674972-7674972 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.31G>C; p.E11Q; 17:7676564-7676564 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.781_782+7delAGGTCAGGA; p.?; 17:7674174-7674182 |
breast | carcinoma | Unknown |
c.396G>T; p.K132N; 17:7675216-7675216 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.831T>A; p.C277*; 17:7673789-7673789 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.560-1G>A; p.?; 17:7674972-7674972 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm | Unknown |
c.396G>T; p.K132N; 17:7675216-7675216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.746G>A; p.R249K; 17:7674217-7674217 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.432G>A; p.Q144Q; 17:7675180-7675180 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - coding silent |
c.229C>G; p.P77A; 17:7676140-7676140 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Substitution - Missense |
c.396G>T; p.K132N; 17:7675216-7675216 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.688_698del11; p.T230fs*6; 17:7674265-7674275 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.396G>T; p.K132N; 17:7675216-7675216 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.746G>A; p.R249K; 17:7674217-7674217 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.746G>A; p.R249K; 17:7674217-7674217 |
oesophagus | other; dysplasia | Substitution - Missense |
c.396G>T; p.K132N; 17:7675216-7675216 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.396G>T; p.K132N; 17:7675216-7675216 |
breast | carcinoma | Substitution - Missense |
c.31G>C; p.E11Q; 17:7676564-7676564 |
prostate | carcinoma | Substitution - Missense |
c.854A>G; p.E285G; 17:7673766-7673766 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.746G>A; p.R249K; 17:7674217-7674217 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.746G>A; p.R249K; 17:7674217-7674217 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.396G>T; p.K132N; 17:7675216-7675216 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.746G>A; p.R249K; 17:7674217-7674217 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.560-1G>A; p.?; 17:7674972-7674972 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.560-1G>A; p.?; 17:7674972-7674972 |
large_intestine | carcinoma; adenocarcinoma | Unknown |
c.448_449delAC; p.P152fs*28; 17:7675163-7675164 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Deletion - Frameshift |
c.396G>T; p.K132N; 17:7675216-7675216 |
ovary | carcinoma | Substitution - Missense |
c.560-1G>A; p.?; 17:7674972-7674972 |
central_nervous_system; parietal_lobe | glioma; astrocytoma | Unknown |
c.746G>A; p.R249K; 17:7674217-7674217 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.746G>A; p.R249K; 17:7674217-7674217 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.560-1G>A; p.?; 17:7674972-7674972 |
ovary | other; neoplasm | Unknown |
c.396G>T; p.K132N; 17:7675216-7675216 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.831T>A; p.C277*; 17:7673789-7673789 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.660T>A; p.Y220*; 17:7674871-7674871 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.706_729del24; p.Y236_M243delYMCNSSCM; 17:7674234-7674257 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - In frame |
c.31G>C; p.E11Q; 17:7676564-7676564 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.436T>G; p.W146G; 17:7675176-7675176 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.396G>T; p.K132N; 17:7675216-7675216 |
lung | carcinoma; pleomorphic_carcinoma | Substitution - Missense |
c.808_843del36; p.F270_D281del12; 17:7673777-7673812 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.396G>T; p.K132N; 17:7675216-7675216 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.377A>C; p.Y126S; 17:7675235-7675235 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.31G>C; p.E11Q; 17:7676564-7676564 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.560-1G>A; p.?; 17:7674972-7674972 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_IV | Unknown |
c.824delG; p.C275fs*70; 17:7673796-7673796 |
lung | carcinoma; small_cell_carcinoma | Deletion - Frameshift |
c.922C>G; p.L308V; 17:7673606-7673606 |
ovary | carcinoma; mucinous_carcinoma | Substitution - Missense |
c.831T>A; p.C277*; 17:7673789-7673789 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Nonsense |
c.396G>T; p.K132N; 17:7675216-7675216 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.760_762delATC; p.I255delI; 17:7674201-7674203 |
stomach | carcinoma; adenocarcinoma | Deletion - In frame |
c.560-1G>A; p.?; 17:7674972-7674972 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Unknown |
c.760_762delATC; p.I255delI; 17:7674201-7674203 |
lung | carcinoma; adenocarcinoma | Deletion - In frame |
c.746G>A; p.R249K; 17:7674217-7674217 |
soft_tissue; fibrous_tissue_and_uncertain_o | malignant_melanoma_of_soft_parts-clear_cell_sarcoma | Substitution - Missense |
c.726C>A; p.C242*; 17:7674237-7674237 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.872A>T; p.K291M; 17:7673748-7673748 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.672+2T>A; p.?; 17:7674857-7674857 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.321_333del13; p.Y107fs*1; 17:7676036-7676048 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.921_922delAC; p.L308fs*28; 17:7673606-7673607 |
breast | carcinoma | Deletion - Frameshift |
c.596delG; p.G199fs*48; 17:7674935-7674935 |
liver | carcinoma | Deletion - Frameshift |
c.833C>T; p.P278L; 17:7673787-7673787 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.760A>G; p.I254V; 17:7674203-7674203 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.899C>T; p.P300L; 17:7673721-7673721 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.921_922delAC; p.L308fs*28; 17:7673606-7673607 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.413delC; p.K139fs*31; 17:7675199-7675199 |
prostate | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.833C>T; p.P278L; 17:7673787-7673787 |
skin; head_neck | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.1012T>C; p.F338L; 17:7670697-7670697 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.712T>A; p.C238S; 17:7674251-7674251 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.899C>T; p.P300L; 17:7673721-7673721 |
stomach | adenoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
skin; head_neck | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
thyroid | carcinoma; papillary_carcinoma | Substitution - Missense |
c.934A>G; p.T312A; 17:7673594-7673594 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
oesophagus | carcinoma | Substitution - Missense |
c.672+2T>A; p.?; 17:7674857-7674857 |
breast | carcinoma | Unknown |
c.473G>C; p.R158P; 17:7675139-7675139 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.712T>A; p.C238S; 17:7674251-7674251 |
ovary | carcinoma | Substitution - Missense |
c.712T>A; p.C238S; 17:7674251-7674251 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.828_829insN; p.C277fs*29; 17:7673791-7673792 |
breast | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.833C>T; p.P278L; 17:7673787-7673787 |
pancreas | carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.596delG; p.G199fs*48; 17:7674935-7674935 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.473G>C; p.R158P; 17:7675139-7675139 |
upper_aerodigestive_tract; head_neck | carcinoma | Substitution - Missense |
c.1_1182del1182; p.0?; 17:7669609-7676594 |
bone; femur | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | Whole gene deletion |
c.833C>T; p.P278L; 17:7673787-7673787 |
skin | malignant_melanoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.712T>A; p.C238S; 17:7674251-7674251 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1_1182del1182; p.0?; 17:7669609-7676594 |
bone; femur | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | Whole gene deletion |
c.896T>C; p.L299P; 17:7673724-7673724 |
pancreas | carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.712T>A; p.C238S; 17:7674251-7674251 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1_1182del1182; p.0?; 17:7669609-7676594 |
breast | other; phyllodes_tumour | Whole gene deletion |
c.672+2T>A; p.?; 17:7674857-7674857 |
pancreas | carcinoma | Unknown |
c.833C>T; p.P278L; 17:7673787-7673787 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.899C>T; p.P300L; 17:7673721-7673721 |
upper_aerodigestive_tract; mouth | other; leukoplakia-hyperplakia-erythroplakia | Substitution - Missense |
c.210_211insN; p.P71fs*78; 17:7676158-7676159 |
endometrium | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1_1182del1182; p.0?; 17:7669609-7676594 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Whole gene deletion |
c.833C>T; p.P278L; 17:7673787-7673787 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.760A>G; p.I254V; 17:7674203-7674203 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.712T>A; p.C238S; 17:7674251-7674251 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.533_534insN; p.H178fs*3; 17:7675078-7675079 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.899C>T; p.P300L; 17:7673721-7673721 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.828_829insN; p.C277fs*29; 17:7673791-7673792 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.833C>T; p.P278L; 17:7673787-7673787 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>C; p.R158P; 17:7675139-7675139 |
ovary | carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
skin; trunk | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
breast | carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.760A>G; p.I254V; 17:7674203-7674203 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.712T>A; p.C238S; 17:7674251-7674251 |
pancreas | carcinoma | Substitution - Missense |
c.448_460del13; p.T150fs*16; 17:7675152-7675164 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Deletion - Frameshift |
c.833C>T; p.P278L; 17:7673787-7673787 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.672+2T>A; p.?; 17:7674857-7674857 |
NS | NS | Unknown |
c.712T>A; p.C238S; 17:7674251-7674251 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.168A>G; p.E56E; 17:7676201-7676201 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - coding silent |
c.473G>C; p.R158P; 17:7675139-7675139 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.97T>A; p.S33T; 17:7676272-7676272 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.712T>A; p.C238S; 17:7674251-7674251 |
breast | carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
skin | malignant_melanoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.448_460del13; p.T150fs*16; 17:7675152-7675164 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.833C>T; p.P278L; 17:7673787-7673787 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.899C>T; p.P300L; 17:7673721-7673721 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.760A>G; p.I254V; 17:7674203-7674203 |
liver | carcinoma | Substitution - Missense |
c.760A>G; p.I254V; 17:7674203-7674203 |
breast | carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
skin; leg | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.388_389insCC; p.L130fs*41; 17:7675223-7675224 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.934_935ins38; p.S313fs*45; 17:7673593-7673594 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Insertion - Frameshift |
c.833C>T; p.P278L; 17:7673787-7673787 |
breast | carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.438_439ins21; p.W146_V147insXXXXXXX; 17:7675173-7675174 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Insertion - In frame |
c.1_1182del1182; p.0?; 17:7669609-7676594 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_IV | Whole gene deletion |
c.712T>A; p.C238S; 17:7674251-7674251 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.739_744delAACCGG; p.N247_R248delNR; 17:7674219-7674224 |
lung | carcinoma | Deletion - In frame |
c.833C>T; p.P278L; 17:7673787-7673787 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.448_460del13; p.T150fs*16; 17:7675152-7675164 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.321_333del13; p.Y107fs*1; 17:7676036-7676048 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.833C>T; p.P278L; 17:7673787-7673787 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.899C>T; p.P300L; 17:7673721-7673721 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1_1182del1182; p.0?; 17:7669609-7676594 |
bone; pelvis | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | Whole gene deletion |
c.712T>A; p.C238S; 17:7674251-7674251 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.595_608del14; p.N200fs*4; 17:7674923-7674936 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.712T>A; p.C238S; 17:7674251-7674251 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.760A>G; p.I254V; 17:7674203-7674203 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.712T>A; p.C238S; 17:7674251-7674251 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
breast | carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>C; p.R158P; 17:7675139-7675139 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
skin | malignant_melanoma | Substitution - Missense |
c.473G>C; p.R158P; 17:7675139-7675139 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
upper_aerodigestive_tract; head_neck | carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.473G>C; p.R158P; 17:7675139-7675139 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.833C>T; p.P278L; 17:7673787-7673787 |
large_intestine; appendix | carcinoma; adenocarcinoma | Substitution - Missense |
c.448_460del13; p.T150fs*16; 17:7675152-7675164 |
vulva | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.473G>C; p.R158P; 17:7675139-7675139 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>C; p.R158P; 17:7675139-7675139 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.473G>C; p.R158P; 17:7675139-7675139 |
central_nervous_system; frontal_lobe | glioma; ependymoma_Grade_III-IV | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
pancreas | carcinoma | Substitution - Missense |
c.823delT; p.C275fs*70; 17:7673797-7673797 |
bone | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | Deletion - Frameshift |
c.659A>G; p.Y220C; 17:7674872-7674872 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.986_987CC>TT; p.T329I; 17:7673541-7673542 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.391_393delAAC; p.N131delN; 17:7675219-7675221 |
oesophagus | other; Barrett_oesophagus | Deletion - In frame |
c.659A>G; p.Y220C; 17:7674872-7674872 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
small_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.358A>T; p.K120*; 17:7676011-7676011 |
lung | carcinoma; large_cell_carcinoma | Substitution - Nonsense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.510G>T; p.T170T; 17:7675102-7675102 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.659A>G; p.Y220C; 17:7674872-7674872 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.510G>T; p.T170T; 17:7675102-7675102 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | other; neoplasm | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | other; neoplasm | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.603G>T; p.L201F; 17:7674928-7674928 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.603G>T; p.L201F; 17:7674928-7674928 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | other; neoplasm | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.605G>T; p.R202L; 17:7674926-7674926 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.627A>G; p.R209R; 17:7674904-7674904 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.659A>G; p.Y220C; 17:7674872-7674872 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.379delT; p.S127fs*43; 17:7675233-7675233 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
oesophagus | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | other; neoplasm | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.710delT; p.M237fs*10; 17:7674253-7674253 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Deletion - Frameshift |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.673-11T>C; p.?; 17:7674301-7674301 |
breast | carcinoma; ductal_carcinoma | Unknown |
c.659A>G; p.Y220C; 17:7674872-7674872 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
skin | malignant_melanoma | Substitution - Missense |
c.511_516delGAGGTT; p.E171_V172delEV; 17:7675096-7675101 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.659A>G; p.Y220C; 17:7674872-7674872 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
central_nervous_system; brain | glioma; oligoastrocytoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.796_804delGGACGGAAC; p.G266_N268delGRN; 17:7673816-7673824 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
stomach | carcinoma; undifferentiated_adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.421T>A; p.C141S; 17:7675191-7675191 |
prostate | carcinoma | Substitution - Missense |
c.31G>A; p.E11K; 17:7676564-7676564 |
breast | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Missense |
c.391_393delAAC; p.N131delN; 17:7675219-7675221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - In frame |
c.659A>G; p.Y220C; 17:7674872-7674872 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
central_nervous_system; brain | glioma; oligoastrocytoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.710delT; p.M237fs*10; 17:7674253-7674253 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - Frameshift |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.627A>G; p.R209R; 17:7674904-7674904 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma; pleomorphic_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
liver | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.402T>C; p.F134F; 17:7675210-7675210 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.659A>G; p.Y220C; 17:7674872-7674872 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.31G>A; p.E11K; 17:7676564-7676564 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
stomach | carcinoma; undifferentiated_adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.412_428del17; p.K139fs*4; 17:7675184-7675200 |
breast | carcinoma | Deletion - Frameshift |
c.659A>G; p.Y220C; 17:7674872-7674872 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
small_intestine; duodenum | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
bone | osteosarcoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.150_157delTGAACAAT; p.I50fs*4; 17:7676212-7676219 |
kidney | carcinoma; chromophobe_renal_cell_carcinoma | Deletion - Frameshift |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | other; neoplasm | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.682_703del22; p.D228fs*12; 17:7674260-7674281 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.218T>A; p.V73E; 17:7676151-7676151 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.421T>A; p.C141S; 17:7675191-7675191 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_II | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.452_453insN; p.P153fs*28; 17:7675159-7675160 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.391_393delAAC; p.N131delN; 17:7675219-7675221 |
lung | carcinoma; adenocarcinoma | Deletion - In frame |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.502_532del31; p.H168fs*69; 17:7675080-7675110 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.266_267insC; p.S90fs*59; 17:7676102-7676103 |
liver | carcinoma; hepatocellular_carcinoma | Insertion - Frameshift |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma | Substitution - Missense |
c.546C>T; p.C182C; 17:7675066-7675066 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.659A>G; p.Y220C; 17:7674872-7674872 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
skin | malignant_melanoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
pancreas | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
pancreas | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
pancreas | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.391_393delAAC; p.N131delN; 17:7675219-7675221 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Deletion - In frame |
c.391_393delAAC; p.N131delN; 17:7675219-7675221 |
breast | carcinoma; ductal_carcinoma | Deletion - In frame |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.282_323del42; p.S95_G108del; 17:7676046-7676087 |
breast | carcinoma; ductal_carcinoma | Deletion - In frame |
c.659A>G; p.Y220C; 17:7674872-7674872 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.521delG; p.R174fs*73; 17:7675091-7675091 |
urinary_tract; bladder | carcinoma | Deletion - Frameshift |
c.659A>G; p.Y220C; 17:7674872-7674872 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.430_433delCAGC; p.Q144fs*25; 17:7675179-7675182 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | other; neoplasm | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.603G>T; p.L201F; 17:7674928-7674928 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.391_393delAAC; p.N131delN; 17:7675219-7675221 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Deletion - In frame |
c.659A>G; p.Y220C; 17:7674872-7674872 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.391_393delAAC; p.N131delN; 17:7675219-7675221 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.659A>G; p.Y220C; 17:7674872-7674872 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.605G>T; p.R202L; 17:7674926-7674926 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | other; neoplasm | Substitution - Missense |
c.546C>T; p.C182C; 17:7675066-7675066 |
skin | malignant_melanoma; lentigo_maligna | Substitution - coding silent |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.605G>T; p.R202L; 17:7674926-7674926 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
prostate | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.391_393delAAC; p.N131delN; 17:7675219-7675221 |
central_nervous_system; parietal_lobe | glioma; astrocytoma | Deletion - In frame |
c.659A>G; p.Y220C; 17:7674872-7674872 |
soft_tissue | sarcoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma | Substitution - Missense |
c.900_901insNN; p.P301fs*45; 17:7673719-7673720 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.659A>G; p.Y220C; 17:7674872-7674872 |
ovary | other; neoplasm | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
stomach | carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_myelodysplastic_syndrome_therapy_related_NOS | Substitution - Missense |
c.659A>G; p.Y220C; 17:7674872-7674872 |
oesophagus | carcinoma | Substitution - Missense |
c.375+8G>A; p.?; 17:7675986-7675986 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Unknown |
c.1009C>T; p.R337C; 17:7670700-7670700 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1015G>T; p.E339*; 17:7670694-7670694 |
oesophagus | carcinoma | Substitution - Nonsense |
c.1015G>T; p.E339*; 17:7670694-7670694 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.592G>C; p.E198Q; 17:7674939-7674939 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Substitution - Missense |
c.673_719del47; p.V225fs*23; 17:7674244-7674290 |
breast | carcinoma | Deletion - Frameshift |
c.1009C>T; p.R337C; 17:7670700-7670700 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1009C>T; p.R337C; 17:7670700-7670700 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.718A>G; p.S240G; 17:7674245-7674245 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.1015G>T; p.E339*; 17:7670694-7670694 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.415A>T; p.K139*; 17:7675197-7675197 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1015G>T; p.E339*; 17:7670694-7670694 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Nonsense |
c.415A>T; p.K139*; 17:7675197-7675197 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.718A>G; p.S240G; 17:7674245-7674245 |
bone | osteosarcoma | Substitution - Missense |
c.718A>G; p.S240G; 17:7674245-7674245 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.1015G>T; p.E339*; 17:7670694-7670694 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.748C>G; p.P250A; 17:7674215-7674215 |
breast | carcinoma | Substitution - Missense |
c.750_751insNNN; p.P250_I251insX; 17:7674212-7674213 |
breast | carcinoma; ductal_carcinoma | Insertion - In frame |
c.466_486del21; p.R156_I162delRVRAMAI; 17:7675126-7675146 |
ovary | carcinoma | Deletion - In frame |
c.1015G>T; p.E339*; 17:7670694-7670694 |
breast | carcinoma; medullary_carcinoma | Substitution - Nonsense |
c.466_486del21; p.R156_I162delRVRAMAI; 17:7675126-7675146 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.1009C>T; p.R337C; 17:7670700-7670700 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.647T>G; p.V216G; 17:7674884-7674884 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.647T>G; p.V216G; 17:7674884-7674884 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.718A>G; p.S240G; 17:7674245-7674245 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.415A>T; p.K139*; 17:7675197-7675197 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.782+1G>T; p.?; 17:7674180-7674180 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.1009C>T; p.R337C; 17:7670700-7670700 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.782+1G>T; p.?; 17:7674180-7674180 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Unknown |
c.1009C>T; p.R337C; 17:7670700-7670700 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1009C>T; p.R337C; 17:7670700-7670700 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.782+1G>T; p.?; 17:7674180-7674180 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.718A>G; p.S240G; 17:7674245-7674245 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.375+1delG; p.?; 17:7675993-7675993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.876A>G; p.K292K; 17:7673744-7673744 |
breast | carcinoma | Substitution - coding silent |
c.782+1G>T; p.?; 17:7674180-7674180 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.1015G>T; p.E339*; 17:7670694-7670694 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.679_680delTC; p.S227fs*1; 17:7674283-7674284 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.1009C>T; p.R337C; 17:7670700-7670700 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.1009C>T; p.R337C; 17:7670700-7670700 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_myelodysplastic_syndrome_therapy_related_NOS | Substitution - Missense |
c.1009C>T; p.R337C; 17:7670700-7670700 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.297C>T; p.S99S; 17:7676072-7676072 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1009C>T; p.R337C; 17:7670700-7670700 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Missense |
c.647T>G; p.V216G; 17:7674884-7674884 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.718A>G; p.S240G; 17:7674245-7674245 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1009C>T; p.R337C; 17:7670700-7670700 |
pancreas | carcinoma | Substitution - Missense |
c.214C>G; p.P72A; 17:7676155-7676155 |
kidney | Wilms_tumour | Substitution - Missense |
c.511_536del26; p.E171fs*1; 17:7675076-7675101 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.1015G>T; p.E339*; 17:7670694-7670694 |
breast | carcinoma; medullary_carcinoma | Substitution - Nonsense |
c.415A>T; p.K139*; 17:7675197-7675197 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.647T>G; p.V216G; 17:7674884-7674884 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1009C>T; p.R337C; 17:7670700-7670700 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.433C>T; p.L145L; 17:7675179-7675179 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1009C>T; p.R337C; 17:7670700-7670700 |
liver | carcinoma | Substitution - Missense |
c.797G>C; p.G266A; 17:7673823-7673823 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.797G>C; p.G266A; 17:7673823-7673823 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1136G>A; p.R379H; 17:7669655-7669655 |
central_nervous_system; brain | glioma; astrocytoma_Grade_I | Substitution - Missense |
c.679_680delTC; p.S227fs*1; 17:7674283-7674284 |
breast | carcinoma | Deletion - Frameshift |
c.319_329del11; p.Y107fs*38; 17:7676040-7676050 |
breast | carcinoma | Deletion - Frameshift |
c.1015G>T; p.E339*; 17:7670694-7670694 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.1009C>T; p.R337C; 17:7670700-7670700 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1009C>T; p.R337C; 17:7670700-7670700 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.782+1G>T; p.?; 17:7674180-7674180 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1009C>T; p.R337C; 17:7670700-7670700 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.1015G>T; p.E339*; 17:7670694-7670694 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.159_160insN; p.F54fs*3; 17:7676209-7676210 |
breast | carcinoma | Insertion - Frameshift |
c.1015G>T; p.E339*; 17:7670694-7670694 |
liver | carcinoma | Substitution - Nonsense |
c.782+1G>T; p.?; 17:7674180-7674180 |
breast | other; neoplasm | Unknown |
c.1015G>T; p.E339*; 17:7670694-7670694 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.782+1G>T; p.?; 17:7674180-7674180 |
pleura | pulmonary_blastoma | Unknown |
c.1009C>T; p.R337C; 17:7670700-7670700 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1009C>T; p.R337C; 17:7670700-7670700 |
breast | carcinoma | Substitution - Missense |
c.1009C>T; p.R337C; 17:7670700-7670700 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.433C>T; p.L145L; 17:7675179-7675179 |
prostate | in_situ_neoplasm; glandular_intraepithelial_neoplasia_Grade_III | Substitution - coding silent |
c.460G>T; p.G154C; 17:7675152-7675152 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.611A>C; p.E204A; 17:7674920-7674920 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.433C>T; p.L145L; 17:7675179-7675179 |
pancreas | other; adenoma | Substitution - coding silent |
c.1009C>T; p.R337C; 17:7670700-7670700 |
breast | other; neoplasm | Substitution - Missense |
c.430_443del14; p.Q144fs*32; 17:7675169-7675182 |
breast | carcinoma | Deletion - Frameshift |
c.1015G>T; p.E339*; 17:7670694-7670694 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.1009C>T; p.R337C; 17:7670700-7670700 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1009C>T; p.R337C; 17:7670700-7670700 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.718A>G; p.S240G; 17:7674245-7674245 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.415A>T; p.K139*; 17:7675197-7675197 |
skin; arm | other; keratosis | Substitution - Nonsense |
c.647T>G; p.V216G; 17:7674884-7674884 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.132G>T; p.M44I; 17:7676237-7676237 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.1009C>T; p.R337C; 17:7670700-7670700 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.460G>T; p.G154C; 17:7675152-7675152 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.782+1G>T; p.?; 17:7674180-7674180 |
breast | carcinoma | Unknown |
c.782+1G>T; p.?; 17:7674180-7674180 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.1015G>T; p.E339*; 17:7670694-7670694 |
liver | carcinoma | Substitution - Nonsense |
c.430_462del33; p.Q144_G154del11; 17:7675150-7675182 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.718A>G; p.S240G; 17:7674245-7674245 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.782+1G>T; p.?; 17:7674180-7674180 |
thymus | thymic_carcinoma; squamous_cell_carcinoma | Unknown |
c.782+1G>T; p.?; 17:7674180-7674180 |
ovary | carcinoma | Unknown |
c.718A>G; p.S240G; 17:7674245-7674245 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.662A>T; p.E221V; 17:7674869-7674869 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.623delA; p.D208fs*39; 17:7674908-7674908 |
thyroid | carcinoma | Deletion - Frameshift |
c.718A>G; p.S240G; 17:7674245-7674245 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1009C>T; p.R337C; 17:7670700-7670700 |
breast | carcinoma | Substitution - Missense |
c.592G>C; p.E198Q; 17:7674939-7674939 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.782+1G>T; p.?; 17:7674180-7674180 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1009C>T; p.R337C; 17:7670700-7670700 |
kidney | carcinoma; chromophobe_renal_cell_carcinoma | Substitution - Missense |
c.647T>G; p.V216G; 17:7674884-7674884 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1009C>T; p.R337C; 17:7670700-7670700 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.718A>G; p.S240G; 17:7674245-7674245 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.1136G>A; p.R379H; 17:7669655-7669655 |
central_nervous_system; brain | glioma; astrocytoma_Grade_I | Substitution - Missense |
c.748C>G; p.P250A; 17:7674215-7674215 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.718A>G; p.S240G; 17:7674245-7674245 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.718A>G; p.S240G; 17:7674245-7674245 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1015G>T; p.E339*; 17:7670694-7670694 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.782+1G>T; p.?; 17:7674180-7674180 |
salivary_gland; parotid | carcinoma; squamous_cell_carcinoma | Unknown |
c.718A>G; p.S240G; 17:7674245-7674245 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.718A>G; p.S240G; 17:7674245-7674245 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1009C>T; p.R337C; 17:7670700-7670700 |
pancreas | carcinoma | Substitution - Missense |
c.1015G>T; p.E339*; 17:7670694-7670694 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Nonsense |
c.782+1G>T; p.?; 17:7674180-7674180 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.1015G>T; p.E339*; 17:7670694-7670694 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.718A>G; p.S240G; 17:7674245-7674245 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.1009C>T; p.R337C; 17:7670700-7670700 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1009C>T; p.R337C; 17:7670700-7670700 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1009C>T; p.R337C; 17:7670700-7670700 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.433C>T; p.L145L; 17:7675179-7675179 |
stomach | other; metaplasia | Substitution - coding silent |
c.1015G>T; p.E339*; 17:7670694-7670694 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.415A>T; p.K139*; 17:7675197-7675197 |
lung | carcinoma | Substitution - Nonsense |
c.647T>G; p.V216G; 17:7674884-7674884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.754_762delCTCACCATC; p.L252_I254delLTI; 17:7674201-7674209 |
breast | carcinoma | Deletion - In frame |
c.517G>A; p.V173M; 17:7675095-7675095 |
breast | carcinoma | Substitution - Missense |
c.832C>A; p.P278T; 17:7673788-7673788 |
breast | carcinoma | Substitution - Missense |
c.1075C>T; p.P359S; 17:7670634-7670634 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.832C>A; p.P278T; 17:7673788-7673788 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.499C>T; p.Q167*; 17:7675113-7675113 |
lung | carcinoma; large_cell_carcinoma | Substitution - Nonsense |
c.832C>A; p.P278T; 17:7673788-7673788 |
oesophagus | carcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
pleura | mesothelioma | Substitution - Missense |
c.499C>T; p.Q167*; 17:7675113-7675113 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.517G>A; p.V173M; 17:7675095-7675095 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.754_762delCTCACCATC; p.L252_I254delLTI; 17:7674201-7674209 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.796G>A; p.G266R; 17:7673824-7673824 |
liver | carcinoma | Substitution - Missense |
c.473_474insNNN; p.R158_A159insX; 17:7675138-7675139 |
oesophagus | carcinoma | Insertion - In frame |
c.832C>A; p.P278T; 17:7673788-7673788 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.499C>T; p.Q167*; 17:7675113-7675113 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.796G>A; p.G266R; 17:7673824-7673824 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.469G>C; p.V157L; 17:7675143-7675143 |
ovary | carcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
large_intestine | adenoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.499C>T; p.Q167*; 17:7675113-7675113 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.885T>C; p.P295P; 17:7673735-7673735 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.499C>T; p.Q167*; 17:7675113-7675113 |
urinary_tract | carcinoma | Substitution - Nonsense |
c.517G>A; p.V173M; 17:7675095-7675095 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.832C>A; p.P278T; 17:7673788-7673788 |
liver | carcinoma | Substitution - Missense |
c.473_474insNNN; p.R158_A159insX; 17:7675138-7675139 |
oesophagus | carcinoma | Insertion - In frame |
c.517G>A; p.V173M; 17:7675095-7675095 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
pancreas | carcinoma | Substitution - Missense |
c.242C>T; p.T81I; 17:7676127-7676127 |
skin; eye | other; normal | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
pancreas | carcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.499C>T; p.Q167*; 17:7675113-7675113 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.499C>T; p.Q167*; 17:7675113-7675113 |
soft_tissue; fat | liposarcoma; myxoid-round_cell | Substitution - Nonsense |
c.832C>A; p.P278T; 17:7673788-7673788 |
kidney | carcinoma; chromophobe_renal_cell_carcinoma | Substitution - Missense |
c.473_474insNNN; p.R158_A159insX; 17:7675138-7675139 |
oesophagus | carcinoma | Insertion - In frame |
c.517G>A; p.V173M; 17:7675095-7675095 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.499C>T; p.Q167*; 17:7675113-7675113 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.517G>A; p.V173M; 17:7675095-7675095 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.754_762delCTCACCATC; p.L252_I254delLTI; 17:7674201-7674209 |
lung | carcinoma; adenocarcinoma | Deletion - In frame |
c.832C>A; p.P278T; 17:7673788-7673788 |
endometrium | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.499C>T; p.Q167*; 17:7675113-7675113 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.473_474insNNN; p.R158_A159insX; 17:7675138-7675139 |
oesophagus | carcinoma | Insertion - In frame |
c.796G>A; p.G266R; 17:7673824-7673824 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>C; p.V157L; 17:7675143-7675143 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.499C>T; p.Q167*; 17:7675113-7675113 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.517G>A; p.V173M; 17:7675095-7675095 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
breast | carcinoma | Substitution - Missense |
c.832C>A; p.P278T; 17:7673788-7673788 |
ovary | carcinoma | Substitution - Missense |
c.885T>C; p.P295P; 17:7673735-7673735 |
prostate | adenoma | Substitution - coding silent |
c.832C>A; p.P278T; 17:7673788-7673788 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.832C>A; p.P278T; 17:7673788-7673788 |
breast | carcinoma | Substitution - Missense |
c.885T>C; p.P295P; 17:7673735-7673735 |
adrenal_gland; adrenal_gland | adrenal_cortical_adenoma | Substitution - coding silent |
c.517G>A; p.V173M; 17:7675095-7675095 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
oesophagus | carcinoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>C; p.V157L; 17:7675143-7675143 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.609G>T; p.V203V; 17:7674922-7674922 |
ovary | other; neoplasm | Substitution - coding silent |
c.796G>A; p.G266R; 17:7673824-7673824 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.672+1_672+2insGAGG; p.?; 17:7674857-7674858 |
breast | carcinoma | Unknown |
c.832C>A; p.P278T; 17:7673788-7673788 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.333G>T; p.L111L; 17:7676036-7676036 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.517G>A; p.V173M; 17:7675095-7675095 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
breast | carcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
breast | carcinoma | Substitution - Missense |
c.840_845delAGACCG; p.D281_R282delDR; 17:7673775-7673780 |
large_intestine; rectum | carcinoma | Deletion - In frame |
c.517G>A; p.V173M; 17:7675095-7675095 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832C>A; p.P278T; 17:7673788-7673788 |
oesophagus | carcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
pancreas | carcinoma | Substitution - Missense |
c.832C>A; p.P278T; 17:7673788-7673788 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.499C>T; p.Q167*; 17:7675113-7675113 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Nonsense |
c.796G>A; p.G266R; 17:7673824-7673824 |
large_intestine; appendix | carcinoma; adenocarcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
breast | carcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.832C>A; p.P278T; 17:7673788-7673788 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.499C>T; p.Q167*; 17:7675113-7675113 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.691delA; p.T231fs*16; 17:7674272-7674272 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.499C>T; p.Q167*; 17:7675113-7675113 |
breast | carcinoma | Substitution - Nonsense |
c.499C>T; p.Q167*; 17:7675113-7675113 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.242C>T; p.T81I; 17:7676127-7676127 |
central_nervous_system; brain | glioma; astrocytoma_Grade_I | Substitution - Missense |
c.545G>C; p.C182S; 17:7675067-7675067 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.832C>A; p.P278T; 17:7673788-7673788 |
upper_aerodigestive_tract; mouth | other; dysplasia | Substitution - Missense |
c.512A>C; p.E171A; 17:7675100-7675100 |
stomach | carcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.754_762delCTCACCATC; p.L252_I254delLTI; 17:7674201-7674209 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - In frame |
c.499C>T; p.Q167*; 17:7675113-7675113 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.517G>A; p.V173M; 17:7675095-7675095 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.499C>T; p.Q167*; 17:7675113-7675113 |
oesophagus | carcinoma | Substitution - Nonsense |
c.499C>T; p.Q167*; 17:7675113-7675113 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.453_456delCCCG; p.P153fs*16; 17:7675156-7675159 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.469G>C; p.V157L; 17:7675143-7675143 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.499C>T; p.Q167*; 17:7675113-7675113 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.832C>A; p.P278T; 17:7673788-7673788 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.832C>A; p.P278T; 17:7673788-7673788 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.632C>A; p.T211N; 17:7674899-7674899 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.754_762delCTCACCATC; p.L252_I254delLTI; 17:7674201-7674209 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Deletion - In frame |
c.832C>A; p.P278T; 17:7673788-7673788 |
central_nervous_system; cerebellum | glioma; astrocytoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
breast | carcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
stomach | carcinoma | Substitution - Missense |
c.832C>A; p.P278T; 17:7673788-7673788 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.499C>T; p.Q167*; 17:7675113-7675113 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.796G>A; p.G266R; 17:7673824-7673824 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
liver | carcinoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.832C>A; p.P278T; 17:7673788-7673788 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.499C>T; p.Q167*; 17:7675113-7675113 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.832C>A; p.P278T; 17:7673788-7673788 |
liver | carcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
stomach | carcinoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
pancreas | carcinoma | Substitution - Missense |
c.583delA; p.I195fs*52; 17:7674948-7674948 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.832C>A; p.P278T; 17:7673788-7673788 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.632C>A; p.T211N; 17:7674899-7674899 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
bone | osteosarcoma | Substitution - Missense |
c.30C>T; p.V10V; 17:7676565-7676565 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.499C>T; p.Q167*; 17:7675113-7675113 |
urinary_tract | carcinoma | Substitution - Nonsense |
c.796G>A; p.G266R; 17:7673824-7673824 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.499C>T; p.Q167*; 17:7675113-7675113 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.499C>T; p.Q167*; 17:7675113-7675113 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.517G>A; p.V173M; 17:7675095-7675095 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
soft_tissue; fibrous_tissue_and_uncertain_o | synovial_sarcoma | Substitution - Missense |
c.469G>C; p.V157L; 17:7675143-7675143 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.609G>T; p.V203V; 17:7674922-7674922 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.796G>A; p.G266R; 17:7673824-7673824 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.453_456delCCCG; p.P153fs*16; 17:7675156-7675159 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.517G>A; p.V173M; 17:7675095-7675095 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.832C>A; p.P278T; 17:7673788-7673788 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.632C>A; p.T211N; 17:7674899-7674899 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.632C>A; p.T211N; 17:7674899-7674899 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
breast | carcinoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Missense |
c.609G>T; p.V203V; 17:7674922-7674922 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.550delG; p.D184fs*63; 17:7675062-7675062 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.517G>A; p.V173M; 17:7675095-7675095 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.499C>T; p.Q167*; 17:7675113-7675113 |
breast | carcinoma | Substitution - Nonsense |
c.832C>A; p.P278T; 17:7673788-7673788 |
skin; trunk | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.469G>C; p.V157L; 17:7675143-7675143 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.832C>A; p.P278T; 17:7673788-7673788 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
ovary | carcinoma | Substitution - Missense |
c.832C>A; p.P278T; 17:7673788-7673788 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.832C>A; p.P278T; 17:7673788-7673788 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.652_661del10; p.V218fs*26; 17:7674870-7674879 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.517G>A; p.V173M; 17:7675095-7675095 |
pancreas | carcinoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.691delA; p.T231fs*16; 17:7674272-7674272 |
central_nervous_system; cerebrum | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.832C>A; p.P278T; 17:7673788-7673788 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.499C>T; p.Q167*; 17:7675113-7675113 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.517G>A; p.V173M; 17:7675095-7675095 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832C>A; p.P278T; 17:7673788-7673788 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.499C>T; p.Q167*; 17:7675113-7675113 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.796G>A; p.G266R; 17:7673824-7673824 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
ovary | carcinoma | Substitution - Missense |
c.919G>T; p.A307S; 17:7673701-7673701 |
skin | malignant_melanoma | Substitution - Missense |
c.796G>A; p.G266R; 17:7673824-7673824 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.517G>A; p.V173M; 17:7675095-7675095 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.832C>A; p.P278T; 17:7673788-7673788 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
lung | carcinoma; lymphoepithelioma_like_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
skin; groin | adnexal_tumour; malignant_adnexal_tumour | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brainstem | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
breast | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.442G>A; p.D148N; 17:7675170-7675170 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; temporal_lobe | glioma; gliosarcoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.423C>G; p.C141W; 17:7675189-7675189 |
pancreas | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
endometrium | carcinoma; mixed_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; oligodendroglioma | Substitution - Missense |
c.166delG; p.E56fs*67; 17:7676203-7676203 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
breast | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.412_414delGCC; p.A138delA; 17:7675198-7675200 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
skin | adnexal_tumour; malignant_adnexal_tumour | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
endometrium | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
skin; back | malignant_melanoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.371_372insG; p.C124fs*25; 17:7675997-7675998 |
oesophagus | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.861G>A; p.E287E; 17:7673759-7673759 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.817C>T; p.R273C; 17:7673803-7673803 |
breast | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.861G>A; p.E287E; 17:7673759-7673759 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; frontal_lobe | glioma; astrocytoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; frontotemporal | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.411_425del15; p.A138_P142delAKTCP; 17:7675187-7675201 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.817C>T; p.R273C; 17:7673803-7673803 |
small_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
kidney | carcinoma; chromophobe_renal_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.225delT; p.A76fs*47; 17:7676144-7676144 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.689C>A; p.T230N; 17:7674274-7674274 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
breast | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.861G>A; p.E287E; 17:7673759-7673759 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
breast | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.559+1G>T; p.?; 17:7675052-7675052 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.429_430delGC; p.Q144fs*4; 17:7675182-7675183 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.568C>T; p.P190S; 17:7674963-7674963 |
ovary | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; oligoastrocytoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_II | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.559+1G>T; p.?; 17:7675052-7675052 |
stomach | carcinoma; diffuse_adenocarcinoma | Unknown |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | other; neoplasm | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
pleura | pulmonary_blastoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.568C>T; p.P190S; 17:7674963-7674963 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_II | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.968T>C; p.L323P; 17:7673560-7673560 |
skin; arm | other; keratosis | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.568C>T; p.P190S; 17:7674963-7674963 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
breast | carcinoma | Substitution - Missense |
c.780C>T; p.S260S; 17:7674183-7674183 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
endometrium | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
skin | adnexal_tumour; malignant_adnexal_tumour | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
breast | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.423C>G; p.C141W; 17:7675189-7675189 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.568C>T; p.P190S; 17:7674963-7674963 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.780C>T; p.S260S; 17:7674183-7674183 |
breast | carcinoma | Substitution - coding silent |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
breast | carcinoma | Substitution - Missense |
c.559+1G>T; p.?; 17:7675052-7675052 |
ovary | carcinoma | Unknown |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.423C>G; p.C141W; 17:7675189-7675189 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.811_813GAG>TAA; p.E271*; 17:7673807-7673809 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.568C>T; p.P190S; 17:7674963-7674963 |
breast | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.469_470insGCCGCG; p.R156_V157insGR; 17:7675142-7675143 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - In frame |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.423C>G; p.C141W; 17:7675189-7675189 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; parietal_lobe | glioma; astrocytoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
skin | malignant_melanoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.568C>T; p.P190S; 17:7674963-7674963 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
breast | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | other; neoplasm | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; frontal_lobe | glioma; astrocytoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
skin; hand | adnexal_tumour; malignant_adnexal_tumour | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
lung | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.423C>G; p.C141W; 17:7675189-7675189 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.442G>A; p.D148N; 17:7675170-7675170 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; oligodendroglioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.748_759del12; p.P250_T253delPILT; 17:7674204-7674215 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; oligoastrocytoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.559+1G>T; p.?; 17:7675052-7675052 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
prostate | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
pancreas | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.568C>T; p.P190S; 17:7674963-7674963 |
ovary | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
endometrium | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; occipital_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.660_661insN; p.E221fs*4; 17:7674870-7674871 |
skin | other; keloid | Insertion - Frameshift |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
breast | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | other; neoplasm | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | other; oesophagitis | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
breast | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
pancreas | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma | Substitution - Missense |
c.442G>A; p.D148N; 17:7675170-7675170 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; thalamus | glioma; oligodendroglioma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
vulva | carcinoma | Substitution - Missense |
c.660_661insN; p.E221fs*4; 17:7674870-7674871 |
ovary | carcinoma | Insertion - Frameshift |
c.817C>T; p.R273C; 17:7673803-7673803 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.861G>A; p.E287E; 17:7673759-7673759 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.559+1G>T; p.?; 17:7675052-7675052 |
lung | carcinoma; adenocarcinoma | Unknown |
c.817C>T; p.R273C; 17:7673803-7673803 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; spinal_cord | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.423C>G; p.C141W; 17:7675189-7675189 |
ovary | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
penis | carcinoma | Substitution - Missense |
c.861G>A; p.E287E; 17:7673759-7673759 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; oligoastrocytoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
prostate | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
breast | other; phyllodes_tumour | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.583_597del15; p.I195_G199delIRVEG; 17:7674934-7674948 |
central_nervous_system; frontal_lobe | glioma; astrocytoma | Deletion - In frame |
c.817C>T; p.R273C; 17:7673803-7673803 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; temporal_lobe | glioma; gliosarcoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
pancreas | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; oligoastrocytoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.559+1G>T; p.?; 17:7675052-7675052 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.559+1G>T; p.?; 17:7675052-7675052 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; oligoastrocytoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; thalamus | glioma; oligodendroglioma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; thalamus | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
cervix | carcinoma; endocervical_adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.423C>G; p.C141W; 17:7675189-7675189 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; oligodendroglioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
endometrium | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.634T>G; p.F212V; 17:7674897-7674897 |
liver | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brainstem | glioma; oligoastrocytoma_Grade_II | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.423C>G; p.C141W; 17:7675189-7675189 |
ovary | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; classic | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
skin; groin | adnexal_tumour; malignant_adnexal_tumour | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.442G>A; p.D148N; 17:7675170-7675170 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.423C>G; p.C141W; 17:7675189-7675189 |
breast | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
breast | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
lung | carcinoma; blastoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; frontal_lobe | glioma; astrocytoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.442G>A; p.D148N; 17:7675170-7675170 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
breast | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.423C>G; p.C141W; 17:7675189-7675189 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_II | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_II | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; MALT_lymphoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.780C>T; p.S260S; 17:7674183-7674183 |
ovary | carcinoma | Substitution - coding silent |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; oligoastrocytoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.827C>G; p.A276G; 17:7673793-7673793 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
bone | osteosarcoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
bone | osteosarcoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma; mucinous_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
breast | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
endometrium | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
genital_tract; extragonadal | germ_cell_tumour; yolk_sac_tumour | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.827C>G; p.A276G; 17:7673793-7673793 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; oligodendroglioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
prostate | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_I | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
breast | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
prostate | adenoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.423C>G; p.C141W; 17:7675189-7675189 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.523delC; p.R175fs*72; 17:7675089-7675089 |
breast | carcinoma | Deletion - Frameshift |
c.817C>T; p.R273C; 17:7673803-7673803 |
prostate | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.560-19_560-9del; p.?; 17:7674980-7674990 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.423C>G; p.C141W; 17:7675189-7675189 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
liver | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; oligodendroglioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; B_cell_lymphoma_unspecified | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; temporal_lobe | glioma; astrocytoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Substitution - Missense |
c.559+1G>T; p.?; 17:7675052-7675052 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.817C>T; p.R273C; 17:7673803-7673803 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
liver | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
breast | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_essential_thrombocythaemia | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma | Substitution - Missense |
c.780C>T; p.S260S; 17:7674183-7674183 |
lung; upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.817C>T; p.R273C; 17:7673803-7673803 |
bone | osteosarcoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.827C>G; p.A276G; 17:7673793-7673793 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; oligodendroglioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoid-endocrine_tumour | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
breast | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
liver | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
thyroid | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
liver | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
cervix | carcinoma; clear_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.423C>G; p.C141W; 17:7675189-7675189 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.827C>G; p.A276G; 17:7673793-7673793 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.660_661insN; p.E221fs*4; 17:7674870-7674871 |
ovary | carcinoma | Insertion - Frameshift |
c.817C>T; p.R273C; 17:7673803-7673803 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; parietal_lobe | glioma; astrocytoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; oligoastrocytoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
pancreas | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
skin | adnexal_tumour; malignant_adnexal_tumour | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.689C>A; p.T230N; 17:7674274-7674274 |
breast | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma; serous_adenocarcinofibroma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; parietal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.841_842insCCGGCCCCT; p.D281>AGPY; 17:7673778-7673779 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Complex - insertion inframe |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; oligodendroglioma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.568C>T; p.P190S; 17:7674963-7674963 |
skin; leg | other; keratosis | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; parietal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
pancreas | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; oligoastrocytoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
lung | carcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>T; p.R273C; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.672G>C; p.E224D; 17:7674859-7674859 |
breast | carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.859_872del14; p.N288fs*13; 17:7673748-7673761 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.773A>C; p.E258A; 17:7674190-7674190 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.770T>A; p.L257Q; 17:7674193-7674193 |
kidney | Wilms_tumour | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung; upper_lobe | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
pancreas | carcinoma | Substitution - Missense |
c.770T>A; p.L257Q; 17:7674193-7674193 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
breast | hyperplasia | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.740A>G; p.N247S; 17:7674223-7674223 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.498_499delAC; p.Q167fs*13; 17:7675113-7675114 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.415A>G; p.K139E; 17:7675197-7675197 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.603_604insAAATTTG; p.R202fs*9; 17:7674927-7674928 |
skin | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.750C>T; p.P250P; 17:7674213-7674213 |
skin | in_situ_epithelial_neoplasm; Bowen_disease | Substitution - coding silent |
c.743G>T; p.R248L; 17:7674220-7674220 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.770T>A; p.L257Q; 17:7674193-7674193 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.770T>A; p.L257Q; 17:7674193-7674193 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.740A>G; p.N247S; 17:7674223-7674223 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.253C>T; p.P85S; 17:7676116-7676116 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.919+1G>A; p.?; 17:7673700-7673700 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Unknown |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.740A>G; p.N247S; 17:7674223-7674223 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.230_237delCAGCAGCT; p.A78fs*68; 17:7676132-7676139 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Deletion - Frameshift |
c.859_872del14; p.N288fs*13; 17:7673748-7673761 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.826G>T; p.A276S; 17:7673794-7673794 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.773A>C; p.E258A; 17:7674190-7674190 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.835G>T; p.G279W; 17:7673785-7673785 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
upper_aerodigestive_tract; head_neck | carcinoma | Substitution - Missense |
c.908G>C; p.S303T; 17:7673712-7673712 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.773A>C; p.E258A; 17:7674190-7674190 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.694A>G; p.I232V; 17:7674269-7674269 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.919+1G>A; p.?; 17:7673700-7673700 |
pancreas | carcinoma | Unknown |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.826G>T; p.A276S; 17:7673794-7673794 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.773A>C; p.E258A; 17:7674190-7674190 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.672G>C; p.E224D; 17:7674859-7674859 |
breast | carcinoma | Substitution - Missense |
c.919+1G>A; p.?; 17:7673700-7673700 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Unknown |
c.859_872del14; p.N288fs*13; 17:7673748-7673761 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.253C>T; p.P85S; 17:7676116-7676116 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.672G>C; p.E224D; 17:7674859-7674859 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.773A>C; p.E258A; 17:7674190-7674190 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.415A>G; p.K139E; 17:7675197-7675197 |
liver | carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.826G>T; p.A276S; 17:7673794-7673794 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.740A>G; p.N247S; 17:7674223-7674223 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
upper_aerodigestive_tract; tonsil | carcinoma | Substitution - Missense |
c.859_872del14; p.N288fs*13; 17:7673748-7673761 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.176G>A; p.G59D; 17:7676193-7676193 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.433_435delCTG; p.L145delL; 17:7675177-7675179 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.743G>T; p.R248L; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.770T>A; p.L257Q; 17:7674193-7674193 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.919+1G>A; p.?; 17:7673700-7673700 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung; upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.323G>A; p.G108D; 17:7676046-7676046 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.415A>G; p.K139E; 17:7675197-7675197 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung; upper_lobe | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
thymus | thymic_carcinoma | Substitution - Missense |
c.859_872del14; p.N288fs*13; 17:7673748-7673761 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.881A>T; p.E294V; 17:7673739-7673739 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.908G>C; p.S303T; 17:7673712-7673712 |
oesophagus | carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.826G>T; p.A276S; 17:7673794-7673794 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.859_872del14; p.N288fs*13; 17:7673748-7673761 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.740A>G; p.N247S; 17:7674223-7674223 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.770T>A; p.L257Q; 17:7674193-7674193 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.759delC; p.I254fs*91; 17:7674204-7674204 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.859_872del14; p.N288fs*13; 17:7673748-7673761 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.631_645del15; p.T211_S215delTFRHS; 17:7674886-7674900 |
breast | carcinoma | Deletion - In frame |
c.743G>T; p.R248L; 17:7674220-7674220 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.770T>A; p.L257Q; 17:7674193-7674193 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.769delC; p.L257fs*88; 17:7674194-7674194 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.743G>T; p.R248L; 17:7674220-7674220 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.694A>G; p.I232V; 17:7674269-7674269 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.610_622del13; p.E204fs*39; 17:7674909-7674921 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.859_872del14; p.N288fs*13; 17:7673748-7673761 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.672G>C; p.E224D; 17:7674859-7674859 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.566_569CCCC>N; p.A189_P190>X; 17:7674962-7674965 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Complex - deletion inframe |
c.919+1G>A; p.?; 17:7673700-7673700 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.743G>T; p.R248L; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.773A>C; p.E258A; 17:7674190-7674190 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
ovary | carcinoma | Substitution - Missense |
c.770T>A; p.L257Q; 17:7674193-7674193 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.740A>G; p.N247S; 17:7674223-7674223 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.672G>C; p.E224D; 17:7674859-7674859 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.672G>C; p.E224D; 17:7674859-7674859 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.178C>T; p.P60S; 17:7676191-7676191 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.859_872del14; p.N288fs*13; 17:7673748-7673761 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.826G>T; p.A276S; 17:7673794-7673794 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma | Substitution - Missense |
c.826G>T; p.A276S; 17:7673794-7673794 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.859_872del14; p.N288fs*13; 17:7673748-7673761 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma | Substitution - Missense |
c.694A>G; p.I232V; 17:7674269-7674269 |
endometrium | carcinoma; adenocarcinoma | Substitution - Missense |
c.919+1G>A; p.?; 17:7673700-7673700 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Unknown |
c.743G>T; p.R248L; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.919+1G>A; p.?; 17:7673700-7673700 |
large_intestine; rectum | carcinoma; adenocarcinoma | Unknown |
c.826G>T; p.A276S; 17:7673794-7673794 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.750C>T; p.P250P; 17:7674213-7674213 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.770T>A; p.L257Q; 17:7674193-7674193 |
breast | carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.740A>G; p.N247S; 17:7674223-7674223 |
soft_tissue; fat | liposarcoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.672G>C; p.E224D; 17:7674859-7674859 |
bone | osteosarcoma | Substitution - Missense |
c.750C>T; p.P250P; 17:7674213-7674213 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.835G>T; p.G279W; 17:7673785-7673785 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.859_872del14; p.N288fs*13; 17:7673748-7673761 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.773A>C; p.E258A; 17:7674190-7674190 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.859_872del14; p.N288fs*13; 17:7673748-7673761 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.895delC; p.L299fs*46; 17:7673725-7673725 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.770T>A; p.L257Q; 17:7674193-7674193 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.859_872del14; p.N288fs*13; 17:7673748-7673761 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.826G>T; p.A276S; 17:7673794-7673794 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.750C>T; p.P250P; 17:7674213-7674213 |
genital_tract; extragonadal | germ_cell_tumour; seminoma | Substitution - coding silent |
c.859_872del14; p.N288fs*13; 17:7673748-7673761 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.743G>T; p.R248L; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.859_872del14; p.N288fs*13; 17:7673748-7673761 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.504C>A; p.H168Q; 17:7675108-7675108 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.835G>T; p.G279W; 17:7673785-7673785 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.672G>C; p.E224D; 17:7674859-7674859 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma | Substitution - Missense |
c.284_285delCT; p.S95fs*53; 17:7676084-7676085 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.826G>T; p.A276S; 17:7673794-7673794 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.541_546CGCTGC>TGCTGT; p.R181C; 17:7675066-7675071 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.606T>C; p.R202R; 17:7674925-7674925 |
prostate | hyperplasia | Substitution - coding silent |
c.572_592del21; p.P191_E198>Q; 17:7674939-7674959 |
breast | carcinoma; HER-positive_carcinoma | Complex - deletion inframe |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.171delC; p.P58fs*65; 17:7676198-7676198 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Deletion - Frameshift |
c.859_872del14; p.N288fs*13; 17:7673748-7673761 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.397A>T; p.M133L; 17:7675215-7675215 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.606T>C; p.R202R; 17:7674925-7674925 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.859_872del14; p.N288fs*13; 17:7673748-7673761 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.919+1G>A; p.?; 17:7673700-7673700 |
liver | carcinoma | Unknown |
c.415A>G; p.K139E; 17:7675197-7675197 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.919+1G>A; p.?; 17:7673700-7673700 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Unknown |
c.694A>G; p.I232V; 17:7674269-7674269 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.908G>C; p.S303T; 17:7673712-7673712 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.770T>A; p.L257Q; 17:7674193-7674193 |
ovary | other; neoplasm | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
prostate | carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
breast | hyperplasia | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.694A>G; p.I232V; 17:7674269-7674269 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma | Substitution - Missense |
c.919+1G>A; p.?; 17:7673700-7673700 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.743G>T; p.R248L; 17:7674220-7674220 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.919+1G>A; p.?; 17:7673700-7673700 |
skin | carcinoma; squamous_cell_carcinoma | Unknown |
c.743G>T; p.R248L; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.815T>A; p.V272E; 17:7673805-7673805 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.766A>T; p.T256S; 17:7674197-7674197 |
bone | osteosarcoma | Substitution - Missense |
c.724T>A; p.C242S; 17:7674239-7674239 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.430delC; p.Q144fs*26; 17:7675182-7675182 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.994_1093del100; p.I332fs*5; 17:7670616-7670715 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.512_513AG>TC; p.E171V; 17:7675099-7675100 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.796G>T; p.G266*; 17:7673824-7673824 |
breast | carcinoma | Substitution - Nonsense |
c.512A>G; p.E171G; 17:7675100-7675100 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.487T>C; p.Y163H; 17:7675125-7675125 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.512A>G; p.E171G; 17:7675100-7675100 |
central_nervous_system; frontal_lobe | glioma; astrocytoma | Substitution - Missense |
c.441T>G; p.V147V; 17:7675171-7675171 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.487T>C; p.Y163H; 17:7675125-7675125 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1050delC; p.K351fs*19; 17:7670659-7670659 |
skin | malignant_melanoma | Deletion - Frameshift |
c.815T>A; p.V272E; 17:7673805-7673805 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.724T>A; p.C242S; 17:7674239-7674239 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.768A>G; p.T256T; 17:7674195-7674195 |
thymus | thymoma | Substitution - coding silent |
c.595_613del19; p.G199fs*42; 17:7674918-7674936 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.647_656del10; p.V216fs*28; 17:7674875-7674884 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.487T>C; p.Y163H; 17:7675125-7675125 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.430delC; p.Q144fs*26; 17:7675182-7675182 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.768A>G; p.T256T; 17:7674195-7674195 |
thyroid | carcinoma; papillary_carcinoma | Substitution - coding silent |
c.796G>T; p.G266*; 17:7673824-7673824 |
lung | carcinoma; large_cell_carcinoma | Substitution - Nonsense |
c.441T>G; p.V147V; 17:7675171-7675171 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1146delA; p.K382fs*>12; 17:7669645-7669645 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.815T>A; p.V272E; 17:7673805-7673805 |
skin; leg | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.404G>C; p.C135S; 17:7675208-7675208 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.724T>A; p.C242S; 17:7674239-7674239 |
breast | carcinoma | Substitution - Missense |
c.815T>A; p.V272E; 17:7673805-7673805 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.493_521del29; p.Q165fs*6; 17:7675091-7675119 |
breast | carcinoma | Deletion - Frameshift |
c.487T>C; p.Y163H; 17:7675125-7675125 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.796G>T; p.G266*; 17:7673824-7673824 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.724T>A; p.C242S; 17:7674239-7674239 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.332_333delTG; p.L111fs*37; 17:7676036-7676037 |
pleura | pulmonary_blastoma | Deletion - Frameshift |
c.776A>G; p.D259G; 17:7674187-7674187 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.589G>T; p.V197L; 17:7674942-7674942 |
breast | carcinoma | Substitution - Missense |
c.724T>A; p.C242S; 17:7674239-7674239 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.295T>C; p.S99P; 17:7676074-7676074 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.919+32G>A; p.?; 17:7673669-7673669 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Unknown |
c.404G>C; p.C135S; 17:7675208-7675208 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.487T>C; p.Y163H; 17:7675125-7675125 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1146delA; p.K382fs*>12; 17:7669645-7669645 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Deletion - Frameshift |
c.776A>G; p.D259G; 17:7674187-7674187 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.768A>G; p.T256T; 17:7674195-7674195 |
breast | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.487T>C; p.Y163H; 17:7675125-7675125 |
ovary | carcinoma | Substitution - Missense |
c.487T>C; p.Y163H; 17:7675125-7675125 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.800delG; p.N268fs*77; 17:7673820-7673820 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.776A>G; p.D259G; 17:7674187-7674187 |
stomach | carcinoma | Substitution - Missense |
c.589G>T; p.V197L; 17:7674942-7674942 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.430delC; p.Q144fs*26; 17:7675182-7675182 |
breast | other; neoplasm | Deletion - Frameshift |
c.487T>C; p.Y163H; 17:7675125-7675125 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.724T>A; p.C242S; 17:7674239-7674239 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.776A>G; p.D259G; 17:7674187-7674187 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.589G>T; p.V197L; 17:7674942-7674942 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.404G>C; p.C135S; 17:7675208-7675208 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.796G>T; p.G266*; 17:7673824-7673824 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.768A>G; p.T256T; 17:7674195-7674195 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1146delA; p.K382fs*>12; 17:7669645-7669645 |
bone; rib | chondrosarcoma | Deletion - Frameshift |
c.844_845insN; p.R282fs*24; 17:7673775-7673776 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.815T>A; p.V272E; 17:7673805-7673805 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.338_340delTCT; p.F113delF; 17:7676029-7676031 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.796G>T; p.G266*; 17:7673824-7673824 |
skin; leg | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Nonsense |
c.487T>C; p.Y163H; 17:7675125-7675125 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.487T>C; p.Y163H; 17:7675125-7675125 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.796G>T; p.G266*; 17:7673824-7673824 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.487T>C; p.Y163H; 17:7675125-7675125 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.796G>T; p.G266*; 17:7673824-7673824 |
pancreas | carcinoma | Substitution - Nonsense |
c.589G>T; p.V197L; 17:7674942-7674942 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.796G>T; p.G266*; 17:7673824-7673824 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.430delC; p.Q144fs*26; 17:7675182-7675182 |
skin | benign_melanocytic_nevus; dysplastic | Deletion - Frameshift |
c.1146delA; p.K382fs*>12; 17:7669645-7669645 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.487T>C; p.Y163H; 17:7675125-7675125 |
skin; arm | other; keratosis | Substitution - Missense |
c.487T>C; p.Y163H; 17:7675125-7675125 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.404G>C; p.C135S; 17:7675208-7675208 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm | Substitution - Missense |
c.487T>C; p.Y163H; 17:7675125-7675125 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.637_645CGACATAGT>NNN; p.R213_S215>X; 17:7674886-7674894 |
ovary | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Complex - deletion inframe |
c.796G>T; p.G266*; 17:7673824-7673824 |
pleura | mesothelioma | Substitution - Nonsense |
c.796G>T; p.G266*; 17:7673824-7673824 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.404G>C; p.C135S; 17:7675208-7675208 |
skin | malignant_melanoma | Substitution - Missense |
c.796G>T; p.G266*; 17:7673824-7673824 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.766A>T; p.T256S; 17:7674197-7674197 |
breast | carcinoma | Substitution - Missense |
c.724T>A; p.C242S; 17:7674239-7674239 |
breast | carcinoma | Substitution - Missense |
c.404G>C; p.C135S; 17:7675208-7675208 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.741_742CC>AT; p.N247_R248>KW; 17:7674221-7674222 |
penis | carcinoma | Complex - compound substitution |
c.512A>G; p.E171G; 17:7675100-7675100 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.724T>A; p.C242S; 17:7674239-7674239 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.487T>C; p.Y163H; 17:7675125-7675125 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.487T>C; p.Y163H; 17:7675125-7675125 |
prostate | carcinoma | Substitution - Missense |
c.796G>T; p.G266*; 17:7673824-7673824 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.796G>T; p.G266*; 17:7673824-7673824 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.815T>A; p.V272E; 17:7673805-7673805 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.724T>A; p.C242S; 17:7674239-7674239 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1146delA; p.K382fs*>12; 17:7669645-7669645 |
central_nervous_system; medulla | primitive_neuroectodermal_tumour-medulloblastoma; classic | Deletion - Frameshift |
c.815T>A; p.V272E; 17:7673805-7673805 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.589G>T; p.V197L; 17:7674942-7674942 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.414delC; p.K139fs*31; 17:7675198-7675198 |
NS | NS | Deletion - Frameshift |
c.672+26G>A; p.?; 17:7674833-7674833 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.404G>C; p.C135S; 17:7675208-7675208 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.768A>G; p.T256T; 17:7674195-7674195 |
breast | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.373delA; p.T125fs*45; 17:7675996-7675996 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.487T>C; p.Y163H; 17:7675125-7675125 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.487T>C; p.Y163H; 17:7675125-7675125 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.291_292insTA; p.P98fs*26; 17:7676077-7676078 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.815T>A; p.V272E; 17:7673805-7673805 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.487T>C; p.Y163H; 17:7675125-7675125 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.404G>C; p.C135S; 17:7675208-7675208 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.1146delA; p.K382fs*>12; 17:7669645-7669645 |
liver | carcinoma | Deletion - Frameshift |
c.796G>T; p.G266*; 17:7673824-7673824 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.487T>C; p.Y163H; 17:7675125-7675125 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.441T>G; p.V147V; 17:7675171-7675171 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.404G>C; p.C135S; 17:7675208-7675208 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.815T>A; p.V272E; 17:7673805-7673805 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.724T>A; p.C242S; 17:7674239-7674239 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.589G>T; p.V197L; 17:7674942-7674942 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.724T>A; p.C242S; 17:7674239-7674239 |
breast | carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.559+1G>A; p.?; 17:7675052-7675052 |
large_intestine; anus | carcinoma; squamous_cell_carcinoma | Unknown |
c.389T>G; p.L130R; 17:7675223-7675223 |
endometrium | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | other; neoplasm | Substitution - Missense |
c.559+1G>A; p.?; 17:7675052-7675052 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.559+1G>A; p.?; 17:7675052-7675052 |
oesophagus | carcinoma | Unknown |
c.733G>A; p.G245S; 17:7674230-7674230 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.421T>C; p.C141R; 17:7675191-7675191 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | other; neoplasm | Substitution - Missense |
c.515T>C; p.V172A; 17:7675097-7675097 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | carcinoma | Substitution - Missense |
c.559+1G>A; p.?; 17:7675052-7675052 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Unknown |
c.389T>G; p.L130R; 17:7675223-7675223 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | other; metaplasia | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
pancreas | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.399_402delGTTT; p.M133fs*36; 17:7675210-7675213 |
breast | carcinoma | Deletion - Frameshift |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma | Substitution - Missense |
c.559+1G>A; p.?; 17:7675052-7675052 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; thalamus | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.559+1G>A; p.?; 17:7675052-7675052 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
small_intestine; duodenum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.731G>T; p.G244V; 17:7674232-7674232 |
lung | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | other; neoplasm | Substitution - Missense |
c.421T>C; p.C141R; 17:7675191-7675191 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.731G>T; p.G244V; 17:7674232-7674232 |
stomach | carcinoma | Substitution - Missense |
c.559+1G>A; p.?; 17:7675052-7675052 |
large_intestine | carcinoma; adenocarcinoma | Unknown |
c.389T>G; p.L130R; 17:7675223-7675223 |
liver | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.389T>G; p.L130R; 17:7675223-7675223 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.421T>C; p.C141R; 17:7675191-7675191 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.457_461delCCCGG; p.P153fs*26; 17:7675151-7675155 |
breast | carcinoma | Deletion - Frameshift |
c.733G>A; p.G245S; 17:7674230-7674230 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
pancreas | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
urinary_tract; bladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
breast | carcinoma | Substitution - Missense |
c.613T>A; p.Y205N; 17:7674918-7674918 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.613T>A; p.Y205N; 17:7674918-7674918 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.613T>A; p.Y205N; 17:7674918-7674918 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.559+1G>A; p.?; 17:7675052-7675052 |
large_intestine; rectum | carcinoma; adenocarcinoma | Unknown |
c.733G>A; p.G245S; 17:7674230-7674230 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.723delC; p.C242fs*5; 17:7674240-7674240 |
ovary | carcinoma | Deletion - Frameshift |
c.733G>A; p.G245S; 17:7674230-7674230 |
cervix | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
soft_tissue | sarcoma | Substitution - Missense |
c.141G>A; p.P47P; 17:7676228-7676228 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.698_699delAC; p.H233fs*6; 17:7674264-7674265 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.584T>C; p.I195T; 17:7674947-7674947 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma | Substitution - Missense |
c.731G>T; p.G244V; 17:7674232-7674232 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.421T>C; p.C141R; 17:7675191-7675191 |
prostate | carcinoma | Substitution - Missense |
c.596G>C; p.G199A; 17:7674935-7674935 |
soft_tissue; blood_vessel | Kaposi_sarcoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
pancreas | carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | adenocarcinoma | Substitution - Missense |
c.383C>T; p.P128L; 17:7675229-7675229 |
breast | carcinoma | Substitution - Missense |
c.731G>T; p.G244V; 17:7674232-7674232 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.421T>C; p.C141R; 17:7675191-7675191 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | other; neoplasm | Substitution - Missense |
c.723delC; p.C242fs*5; 17:7674240-7674240 |
breast | carcinoma | Deletion - Frameshift |
c.733G>A; p.G245S; 17:7674230-7674230 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
pancreas | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.723delC; p.C242fs*5; 17:7674240-7674240 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.421T>C; p.C141R; 17:7675191-7675191 |
endometrium | carcinoma; clear_cell_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | other; neoplasm | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.731G>T; p.G244V; 17:7674232-7674232 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.731G>T; p.G244V; 17:7674232-7674232 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | other; neoplasm | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
pancreas | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.421T>C; p.C141R; 17:7675191-7675191 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.559+1G>A; p.?; 17:7675052-7675052 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.559+1G>A; p.?; 17:7675052-7675052 |
skin | malignant_melanoma | Unknown |
c.733G>A; p.G245S; 17:7674230-7674230 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.421T>C; p.C141R; 17:7675191-7675191 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
oesophagus | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.723delC; p.C242fs*5; 17:7674240-7674240 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.733G>A; p.G245S; 17:7674230-7674230 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
endometrium | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma | Substitution - Missense |
c.731G>T; p.G244V; 17:7674232-7674232 |
vulva | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.389T>G; p.L130R; 17:7675223-7675223 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.731G>T; p.G244V; 17:7674232-7674232 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.723delC; p.C242fs*5; 17:7674240-7674240 |
breast | carcinoma | Deletion - Frameshift |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
pancreas | carcinoma | Substitution - Missense |
c.731G>T; p.G244V; 17:7674232-7674232 |
ovary | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
skin; arm | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.559+1G>A; p.?; 17:7675052-7675052 |
soft_tissue; fat | liposarcoma | Unknown |
c.584T>C; p.I195T; 17:7674947-7674947 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
pancreas | carcinoma | Substitution - Missense |
c.731G>T; p.G244V; 17:7674232-7674232 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | adenoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.457_461delCCCGG; p.P153fs*26; 17:7675151-7675155 |
skin; trunk | in_situ_epithelial_neoplasm; Bowen_disease | Deletion - Frameshift |
c.584T>C; p.I195T; 17:7674947-7674947 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.559+1G>A; p.?; 17:7675052-7675052 |
breast | carcinoma | Unknown |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma | Substitution - Missense |
c.559+1G>A; p.?; 17:7675052-7675052 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.584T>C; p.I195T; 17:7674947-7674947 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.731G>T; p.G244V; 17:7674232-7674232 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | adenoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | adenoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma | Substitution - Missense |
c.421T>C; p.C141R; 17:7675191-7675191 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.559+1G>A; p.?; 17:7675052-7675052 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.421T>C; p.C141R; 17:7675191-7675191 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.515T>C; p.V172A; 17:7675097-7675097 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
prostate | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; B_cell_lymphoma_unspecified | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.723delC; p.C242fs*5; 17:7674240-7674240 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.733G>A; p.G245S; 17:7674230-7674230 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.421T>C; p.C141R; 17:7675191-7675191 |
ovary | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.613T>A; p.Y205N; 17:7674918-7674918 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma | Substitution - Missense |
c.421T>C; p.C141R; 17:7675191-7675191 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma | Substitution - Missense |
c.421T>C; p.C141R; 17:7675191-7675191 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
salivary_gland; parotid | adenoma; myoepithelial | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
pancreas | carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.723delC; p.C242fs*5; 17:7674240-7674240 |
breast | NS | Deletion - Frameshift |
c.733G>A; p.G245S; 17:7674230-7674230 |
lung | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma | Substitution - Missense |
c.559+1G>A; p.?; 17:7675052-7675052 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.733G>A; p.G245S; 17:7674230-7674230 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma | Substitution - Missense |
c.559+1G>A; p.?; 17:7675052-7675052 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.723delC; p.C242fs*5; 17:7674240-7674240 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.733G>A; p.G245S; 17:7674230-7674230 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.559+1G>A; p.?; 17:7675052-7675052 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.731G>T; p.G244V; 17:7674232-7674232 |
endometrium | carcinoma | Substitution - Missense |
c.421T>C; p.C141R; 17:7675191-7675191 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; classic | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
liver | other; normal | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma | Substitution - Missense |
c.389T>G; p.L130R; 17:7675223-7675223 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.559+1G>A; p.?; 17:7675052-7675052 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.733G>A; p.G245S; 17:7674230-7674230 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.559+1G>A; p.?; 17:7675052-7675052 |
breast | carcinoma | Unknown |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.383C>T; p.P128L; 17:7675229-7675229 |
prostate | in_situ_neoplasm; glandular_intraepithelial_neoplasia_Grade_III | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.421T>C; p.C141R; 17:7675191-7675191 |
breast | carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.559+1G>A; p.?; 17:7675052-7675052 |
pancreas | carcinoma; ductal_carcinoma | Unknown |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | other; neoplasm | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.559+1G>A; p.?; 17:7675052-7675052 |
oesophagus | carcinoma | Unknown |
c.584T>C; p.I195T; 17:7674947-7674947 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.723delC; p.C242fs*5; 17:7674240-7674240 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.427G>C; p.V143L; 17:7675185-7675185 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.731G>T; p.G244V; 17:7674232-7674232 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma | Substitution - Missense |
c.723delC; p.C242fs*5; 17:7674240-7674240 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.723delC; p.C242fs*5; 17:7674240-7674240 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.731G>T; p.G244V; 17:7674232-7674232 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
pancreas | carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.515T>C; p.V172A; 17:7675097-7675097 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.723delC; p.C242fs*5; 17:7674240-7674240 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
pancreas | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; temporal_lobe | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.723delC; p.C242fs*5; 17:7674240-7674240 |
breast | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma | Substitution - Missense |
c.389T>G; p.L130R; 17:7675223-7675223 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.731G>T; p.G244V; 17:7674232-7674232 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | other; metaplasia | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | adenoma | Substitution - Missense |
c.613T>A; p.Y205N; 17:7674918-7674918 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | other; neoplasm | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
endometrium | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
lung | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.421T>C; p.C141R; 17:7675191-7675191 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.723delC; p.C242fs*5; 17:7674240-7674240 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.733G>A; p.G245S; 17:7674230-7674230 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.559+1G>A; p.?; 17:7675052-7675052 |
pancreas | carcinoma | Unknown |
c.559+1G>A; p.?; 17:7675052-7675052 |
NS | NS | Unknown |
c.733G>A; p.G245S; 17:7674230-7674230 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | other; neoplasm | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | other; neoplasm | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.515T>C; p.V172A; 17:7675097-7675097 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.559+1G>A; p.?; 17:7675052-7675052 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
prostate | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
breast | carcinoma | Substitution - Missense |
c.389T>G; p.L130R; 17:7675223-7675223 |
liver | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.141G>A; p.P47P; 17:7676228-7676228 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.421T>C; p.C141R; 17:7675191-7675191 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
pancreas | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.731G>T; p.G244V; 17:7674232-7674232 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.383C>T; p.P128L; 17:7675229-7675229 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.559+1G>A; p.?; 17:7675052-7675052 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Unknown |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.559+1G>A; p.?; 17:7675052-7675052 |
ovary | carcinoma | Unknown |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; anus | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
ovary | other; neoplasm | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma; mucinous_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
ovary | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.584T>C; p.I195T; 17:7674947-7674947 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
stomach | carcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245S; 17:7674230-7674230 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.412G>C; p.A138P; 17:7675200-7675200 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.523C>G; p.R175G; 17:7675089-7675089 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.412G>C; p.A138P; 17:7675200-7675200 |
breast | carcinoma | Substitution - Missense |
c.809T>G; p.F270C; 17:7673811-7673811 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.523C>G; p.R175G; 17:7675089-7675089 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.807C>T; p.S269S; 17:7673813-7673813 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.535C>A; p.H179N; 17:7675077-7675077 |
stomach | carcinoma | Substitution - Missense |
c.523C>G; p.R175G; 17:7675089-7675089 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.809T>G; p.F270C; 17:7673811-7673811 |
breast | carcinoma | Substitution - Missense |
c.570_572delTCC; p.P191delP; 17:7674959-7674961 |
large_intestine; rectum | carcinoma | Deletion - In frame |
c.691A>T; p.T231S; 17:7674272-7674272 |
breast | carcinoma | Substitution - Missense |
c.273G>A; p.W91*; 17:7676096-7676096 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.412G>C; p.A138P; 17:7675200-7675200 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.810T>A; p.F270L; 17:7673810-7673810 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.683A>T; p.D228V; 17:7674280-7674280 |
ovary | carcinoma | Substitution - Missense |
c.810T>A; p.F270L; 17:7673810-7673810 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.535C>A; p.H179N; 17:7675077-7675077 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.535C>A; p.H179N; 17:7675077-7675077 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.805_851del47; p.S269fs*21; 17:7673769-7673815 |
breast | carcinoma | Deletion - Frameshift |
c.733_734GG>AA; p.G245N; 17:7674229-7674230 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.318C>G; p.S106R; 17:7676051-7676051 |
liver | carcinoma | Substitution - Missense |
c.535C>A; p.H179N; 17:7675077-7675077 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.523C>G; p.R175G; 17:7675089-7675089 |
pancreas | carcinoma | Substitution - Missense |
c.809T>G; p.F270C; 17:7673811-7673811 |
breast | carcinoma | Substitution - Missense |
c.535C>A; p.H179N; 17:7675077-7675077 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.525_526insN; p.C176fs*5; 17:7675086-7675087 |
stomach | carcinoma; signet_ring_adenocarcinoma | Insertion - Frameshift |
c.809T>G; p.F270C; 17:7673811-7673811 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.169_185del17; p.D57fs*86; 17:7676184-7676200 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.523C>G; p.R175G; 17:7675089-7675089 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.412G>C; p.A138P; 17:7675200-7675200 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.412G>C; p.A138P; 17:7675200-7675200 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.370T>G; p.C124G; 17:7675999-7675999 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.807C>T; p.S269S; 17:7673813-7673813 |
breast | carcinoma | Substitution - coding silent |
c.535C>A; p.H179N; 17:7675077-7675077 |
breast | carcinoma | Substitution - Missense |
c.523C>G; p.R175G; 17:7675089-7675089 |
oesophagus | other; dysplasia | Substitution - Missense |
c.535C>A; p.H179N; 17:7675077-7675077 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.809T>G; p.F270C; 17:7673811-7673811 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.809T>G; p.F270C; 17:7673811-7673811 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.523C>G; p.R175G; 17:7675089-7675089 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.535C>A; p.H179N; 17:7675077-7675077 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.523C>G; p.R175G; 17:7675089-7675089 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.809T>G; p.F270C; 17:7673811-7673811 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.535C>A; p.H179N; 17:7675077-7675077 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.810T>A; p.F270L; 17:7673810-7673810 |
oesophagus | carcinoma | Substitution - Missense |
c.809T>G; p.F270C; 17:7673811-7673811 |
ovary | carcinoma | Substitution - Missense |
c.412G>C; p.A138P; 17:7675200-7675200 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.809T>G; p.F270C; 17:7673811-7673811 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.809T>G; p.F270C; 17:7673811-7673811 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.273G>A; p.W91*; 17:7676096-7676096 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.391delA; p.N131fs*39; 17:7675221-7675221 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.273G>A; p.W91*; 17:7676096-7676096 |
ovary | other; neoplasm | Substitution - Nonsense |
c.555C>G; p.S185R; 17:7675057-7675057 |
breast | carcinoma | Substitution - Missense |
c.748_749CC>AA; p.P250N; 17:7674214-7674215 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.535C>A; p.H179N; 17:7675077-7675077 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.810T>A; p.F270L; 17:7673810-7673810 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733_734GG>AA; p.G245N; 17:7674229-7674230 |
skin; trunk | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.523C>G; p.R175G; 17:7675089-7675089 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.412G>C; p.A138P; 17:7675200-7675200 |
ovary | other; neoplasm | Substitution - Missense |
c.412G>C; p.A138P; 17:7675200-7675200 |
ovary | other; neoplasm | Substitution - Missense |
c.691A>T; p.T231S; 17:7674272-7674272 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.275C>T; p.P92L; 17:7676094-7676094 |
skin; head_neck | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.535C>A; p.H179N; 17:7675077-7675077 |
cervix | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.370T>G; p.C124G; 17:7675999-7675999 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.273G>A; p.W91*; 17:7676096-7676096 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.1143A>T; p.K381N; 17:7669648-7669648 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.660T>G; p.Y220*; 17:7674871-7674871 |
breast | carcinoma | Substitution - Nonsense |
c.412G>C; p.A138P; 17:7675200-7675200 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.660T>G; p.Y220*; 17:7674871-7674871 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.691A>T; p.T231S; 17:7674272-7674272 |
skin | malignant_melanoma | Substitution - Missense |
c.273G>A; p.W91*; 17:7676096-7676096 |
skin; arm | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Nonsense |
c.273G>A; p.W91*; 17:7676096-7676096 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.523C>G; p.R175G; 17:7675089-7675089 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.535C>A; p.H179N; 17:7675077-7675077 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.412G>C; p.A138P; 17:7675200-7675200 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.523C>G; p.R175G; 17:7675089-7675089 |
lung | carcinoma | Substitution - Missense |
c.748_749CC>AA; p.P250N; 17:7674214-7674215 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.273G>A; p.W91*; 17:7676096-7676096 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.523C>G; p.R175G; 17:7675089-7675089 |
stomach | adenocarcinoma | Substitution - Missense |
c.273G>A; p.W91*; 17:7676096-7676096 |
ovary | other; neoplasm | Substitution - Nonsense |
c.412G>C; p.A138P; 17:7675200-7675200 |
breast | carcinoma | Substitution - Missense |
c.273G>A; p.W91*; 17:7676096-7676096 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.412G>C; p.A138P; 17:7675200-7675200 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.810T>A; p.F270L; 17:7673810-7673810 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.809T>G; p.F270C; 17:7673811-7673811 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.273G>A; p.W91*; 17:7676096-7676096 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.412G>C; p.A138P; 17:7675200-7675200 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.273G>A; p.W91*; 17:7676096-7676096 |
breast | carcinoma | Substitution - Nonsense |
c.318C>G; p.S106R; 17:7676051-7676051 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.273G>A; p.W91*; 17:7676096-7676096 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.809T>G; p.F270C; 17:7673811-7673811 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.523C>G; p.R175G; 17:7675089-7675089 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.412G>C; p.A138P; 17:7675200-7675200 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.523C>G; p.R175G; 17:7675089-7675089 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.809T>G; p.F270C; 17:7673811-7673811 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.523C>G; p.R175G; 17:7675089-7675089 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.809T>G; p.F270C; 17:7673811-7673811 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.412G>C; p.A138P; 17:7675200-7675200 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.318C>G; p.S106R; 17:7676051-7676051 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.535C>A; p.H179N; 17:7675077-7675077 |
stomach | carcinoma | Substitution - Missense |
c.412G>C; p.A138P; 17:7675200-7675200 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.535C>A; p.H179N; 17:7675077-7675077 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.273G>A; p.W91*; 17:7676096-7676096 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.523C>G; p.R175G; 17:7675089-7675089 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.318C>G; p.S106R; 17:7676051-7676051 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.273G>A; p.W91*; 17:7676096-7676096 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.525_526insN; p.C176fs*5; 17:7675086-7675087 |
breast | carcinoma | Insertion - Frameshift |
c.523C>G; p.R175G; 17:7675089-7675089 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.318C>G; p.S106R; 17:7676051-7676051 |
pancreas | carcinoma | Substitution - Missense |
c.412G>C; p.A138P; 17:7675200-7675200 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.807C>T; p.S269S; 17:7673813-7673813 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.233C>T; p.A78V; 17:7676136-7676136 |
breast | carcinoma | Substitution - Missense |
c.683A>T; p.D228V; 17:7674280-7674280 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.652_672del21; p.P219_V225delPYEPPEV; 17:7674859-7674879 |
urinary_tract; bladder | carcinoma | Deletion - In frame |
c.273G>A; p.W91*; 17:7676096-7676096 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.523C>G; p.R175G; 17:7675089-7675089 |
large_intestine; rectum | adenoma | Substitution - Missense |
c.196_197insCCCAGAAT; p.M66fs*60; 17:7676172-7676173 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.273G>A; p.W91*; 17:7676096-7676096 |
breast | carcinoma | Substitution - Nonsense |
c.273G>A; p.W91*; 17:7676096-7676096 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.525_526insN; p.C176fs*5; 17:7675086-7675087 |
breast | carcinoma | Insertion - Frameshift |
c.535C>A; p.H179N; 17:7675077-7675077 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.273G>A; p.W91*; 17:7676096-7676096 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.660T>G; p.Y220*; 17:7674871-7674871 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.233C>T; p.A78V; 17:7676136-7676136 |
breast | carcinoma | Substitution - Missense |
c.391delA; p.N131fs*39; 17:7675221-7675221 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.809T>G; p.F270C; 17:7673811-7673811 |
breast | carcinoma | Substitution - Missense |
c.523C>G; p.R175G; 17:7675089-7675089 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.318C>G; p.S106R; 17:7676051-7676051 |
liver | carcinoma | Substitution - Missense |
c.824_825delGT; p.A276fs*29; 17:7673795-7673796 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.466_474delCGCGTCCGC; p.R156_R158delRVR; 17:7675138-7675146 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.523C>G; p.R175G; 17:7675089-7675089 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.535C>A; p.H179N; 17:7675077-7675077 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.809T>G; p.F270C; 17:7673811-7673811 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.370T>G; p.C124G; 17:7675999-7675999 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.809T>G; p.F270C; 17:7673811-7673811 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.273G>A; p.W91*; 17:7676096-7676096 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.261A>G; p.P87P; 17:7676108-7676108 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.831_832insN; p.P278fs*28; 17:7673788-7673789 |
lung | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.656C>A; p.P219H; 17:7674875-7674875 |
breast | carcinoma | Substitution - Missense |
c.1038_1056del19; p.A347fs*17; 17:7670653-7670671 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Deletion - Frameshift |
c.850A>T; p.T284S; 17:7673770-7673770 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.451delC; p.P152fs*18; 17:7675161-7675161 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.572_573insNN; p.Q192fs*56; 17:7674958-7674959 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.882_883insN; p.P295fs*11; 17:7673737-7673738 |
breast | carcinoma | Insertion - Frameshift |
c.451delC; p.P152fs*18; 17:7675161-7675161 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.502C>T; p.H168Y; 17:7675110-7675110 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.451delC; p.P152fs*18; 17:7675161-7675161 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.451delC; p.P152fs*18; 17:7675161-7675161 |
urinary_tract; bladder | carcinoma | Deletion - Frameshift |
c.502C>T; p.H168Y; 17:7675110-7675110 |
breast | carcinoma | Substitution - Missense |
c.867_874delCCGCAAGA; p.K291fs*12; 17:7673746-7673753 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.380_401del22; p.S127fs*36; 17:7675211-7675232 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.300_301insN; p.K101fs*48; 17:7676068-7676069 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Insertion - Frameshift |
c.451delC; p.P152fs*18; 17:7675161-7675161 |
lung | carcinoma | Deletion - Frameshift |
c.919+1G>T; p.?; 17:7673700-7673700 |
pancreas | carcinoma | Unknown |
c.465C>A; p.T155T; 17:7675147-7675147 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.882_883insN; p.P295fs*11; 17:7673737-7673738 |
breast | carcinoma | Insertion - Frameshift |
c.919+1G>T; p.?; 17:7673700-7673700 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.538_539ins18; p.E180>DGRCPHQ; 17:7675073-7675074 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Complex - insertion inframe |
c.599A>T; p.N200I; 17:7674932-7674932 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.451delC; p.P152fs*18; 17:7675161-7675161 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.502C>T; p.H168Y; 17:7675110-7675110 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.451delC; p.P152fs*18; 17:7675161-7675161 |
lung | carcinoma; large_cell_carcinoma | Deletion - Frameshift |
c.919+1G>T; p.?; 17:7673700-7673700 |
stomach | carcinoma; diffuse_adenocarcinoma | Unknown |
c.502C>T; p.H168Y; 17:7675110-7675110 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.640_647delCATAGTGT; p.H214fs*5; 17:7674884-7674891 |
skin; face | carcinoma; basal_cell_carcinoma | Deletion - Frameshift |
c.277C>A; p.L93M; 17:7676092-7676092 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.582T>C; p.L194L; 17:7674949-7674949 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.502C>T; p.H168Y; 17:7675110-7675110 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm | Substitution - Missense |
c.465C>A; p.T155T; 17:7675147-7675147 |
breast | carcinoma | Substitution - coding silent |
c.552T>C; p.D184D; 17:7675060-7675060 |
cervix | carcinoma | Substitution - coding silent |
c.599A>T; p.N200I; 17:7674932-7674932 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.640_647delCATAGTGT; p.H214fs*5; 17:7674884-7674891 |
ovary | carcinoma | Deletion - Frameshift |
c.919+1G>T; p.?; 17:7673700-7673700 |
lung | carcinoma | Unknown |
c.502C>T; p.H168Y; 17:7675110-7675110 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.321_322insN; p.G108fs*41; 17:7676047-7676048 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Insertion - Frameshift |
c.831_832insN; p.P278fs*28; 17:7673788-7673789 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.451delC; p.P152fs*18; 17:7675161-7675161 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.582T>C; p.L194L; 17:7674949-7674949 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.451delC; p.P152fs*18; 17:7675161-7675161 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.502C>T; p.H168Y; 17:7675110-7675110 |
skin; face | other; keratosis | Substitution - Missense |
c.294T>C; p.P98P; 17:7676075-7676075 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.502C>T; p.H168Y; 17:7675110-7675110 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.787A>C; p.N263H; 17:7673833-7673833 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.919+1G>T; p.?; 17:7673700-7673700 |
ovary | carcinoma; undifferentiated_carcinoma | Unknown |
c.919+1G>T; p.?; 17:7673700-7673700 |
lung | carcinoma | Unknown |
c.919+1G>T; p.?; 17:7673700-7673700 |
lung | carcinoma | Unknown |
c.552T>C; p.D184D; 17:7675060-7675060 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.919+1G>T; p.?; 17:7673700-7673700 |
breast | carcinoma | Unknown |
c.502C>T; p.H168Y; 17:7675110-7675110 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.582T>C; p.L194L; 17:7674949-7674949 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.919+1G>T; p.?; 17:7673700-7673700 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_IV | Unknown |
c.782+17C>A; p.?; 17:7674164-7674164 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.472C>A; p.R158S; 17:7675140-7675140 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.206C>G; p.A69G; 17:7676163-7676163 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.457_458insT; p.P153fs*28; 17:7675154-7675155 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.752delT; p.I251fs*94; 17:7674211-7674211 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.577C>T; p.H193Y; 17:7674954-7674954 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; non_functioning | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
breast | carcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1000G>T; p.G334W; 17:7670709-7670709 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.568C>A; p.P190T; 17:7674963-7674963 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.708C>T; p.Y236Y; 17:7674255-7674255 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.577C>T; p.H193Y; 17:7674954-7674954 |
breast | carcinoma | Substitution - Missense |
c.699C>G; p.H233Q; 17:7674264-7674264 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
central_nervous_system; cerebrum | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.908G>A; p.S303N; 17:7673712-7673712 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.368C>T; p.T123I; 17:7676001-7676001 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.699C>G; p.H233Q; 17:7674264-7674264 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.993+1_993+3GTA>C; p.?; 17:7673532-7673534 |
pancreas | carcinoma; ductal_carcinoma | Unknown |
c.577C>T; p.H193Y; 17:7674954-7674954 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.583_601del19; p.I195fs*46; 17:7674930-7674948 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.559+10_559+24delTGGGGCTGGAGAGAC; p.?; 17:7675029-7675043 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.577C>T; p.H193Y; 17:7674954-7674954 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.367_368insGA; p.T123fs*48; 17:7676001-7676002 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.577C>T; p.H193Y; 17:7674954-7674954 |
pancreas | carcinoma | Substitution - Missense |
c.708C>T; p.Y236Y; 17:7674255-7674255 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.577C>T; p.H193Y; 17:7674954-7674954 |
breast | carcinoma | Substitution - Missense |
c.605G>C; p.R202P; 17:7674926-7674926 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1000G>T; p.G334W; 17:7670709-7670709 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.908G>A; p.S303N; 17:7673712-7673712 |
breast | carcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.568C>A; p.P190T; 17:7674963-7674963 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
soft_tissue | sarcoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
urinary_tract | carcinoma | Substitution - Missense |
c.806delG; p.S269fs*76; 17:7673814-7673814 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.725_726GC>TT; p.C242F; 17:7674237-7674238 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.568C>A; p.P190T; 17:7674963-7674963 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
urinary_tract | carcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.456G>T; p.P152P; 17:7675156-7675156 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - coding silent |
c.577C>T; p.H193Y; 17:7674954-7674954 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.908G>A; p.S303N; 17:7673712-7673712 |
large_intestine; appendix | carcinoid-endocrine_tumour | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
pancreas | carcinoma | Substitution - Missense |
c.851_863del13; p.T284fs*57; 17:7673757-7673769 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.577C>T; p.H193Y; 17:7674954-7674954 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.938G>A; p.S313N; 17:7673590-7673590 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.206C>G; p.A69G; 17:7676163-7676163 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.206C>G; p.A69G; 17:7676163-7676163 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.1000G>T; p.G334W; 17:7670709-7670709 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.782+2T>G; p.?; 17:7674179-7674179 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Unknown |
c.392delA; p.N131fs*39; 17:7675220-7675220 |
breast | carcinoma | Deletion - Frameshift |
c.577C>T; p.H193Y; 17:7674954-7674954 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.581_582delTT; p.L194fs*14; 17:7674949-7674950 |
prostate | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.568C>A; p.P190T; 17:7674963-7674963 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.701A>T; p.Y234F; 17:7674262-7674262 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
pancreas | carcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.605G>C; p.R202P; 17:7674926-7674926 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.577C>T; p.H193Y; 17:7674954-7674954 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.527_528GC>TT; p.C176F; 17:7675084-7675085 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.605G>A; p.R202H; 17:7674926-7674926 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.480G>A; p.M160I; 17:7675132-7675132 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.359A>G; p.K120R; 17:7676010-7676010 |
prostate | hyperplasia | Substitution - Missense |
c.682G>C; p.D228H; 17:7674281-7674281 |
breast | carcinoma | Substitution - Missense |
c.471C>A; p.V157V; 17:7675141-7675141 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.838A>G; p.R280G; 17:7673782-7673782 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.605G>A; p.R202H; 17:7674926-7674926 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.764T>G; p.I255S; 17:7674199-7674199 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.792_794delACT; p.L265delL; 17:7673826-7673828 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.764T>G; p.I255S; 17:7674199-7674199 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.480G>A; p.M160I; 17:7675132-7675132 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.792_794delACT; p.L265delL; 17:7673826-7673828 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.471C>A; p.V157V; 17:7675141-7675141 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.52A>G; p.T18A; 17:7676543-7676543 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.422G>T; p.C141F; 17:7675190-7675190 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.54A>T; p.T18T; 17:7676541-7676541 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.305C>T; p.T102I; 17:7676064-7676064 |
adrenal_gland; adrenal_gland | adrenal_cortical_adenoma | Substitution - Missense |
c.305C>T; p.T102I; 17:7676064-7676064 |
adrenal_gland; adrenal_gland | pheochromocytoma | Substitution - Missense |
c.838A>G; p.R280G; 17:7673782-7673782 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.838A>G; p.R280G; 17:7673782-7673782 |
liver | carcinoma | Substitution - Missense |
c.838A>G; p.R280G; 17:7673782-7673782 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.305C>T; p.T102I; 17:7676064-7676064 |
adrenal_gland; adrenal_gland | adrenal_cortical_adenoma | Substitution - Missense |
c.838A>G; p.R280G; 17:7673782-7673782 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.901C>T; p.P301S; 17:7673719-7673719 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.838A>G; p.R280G; 17:7673782-7673782 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.838A>G; p.R280G; 17:7673782-7673782 |
ovary | carcinoma | Substitution - Missense |
c.838A>G; p.R280G; 17:7673782-7673782 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.764T>G; p.I255S; 17:7674199-7674199 |
bone; femur | chondrosarcoma | Substitution - Missense |
c.480G>A; p.M160I; 17:7675132-7675132 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.633delT; p.R213fs*34; 17:7674898-7674898 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.273_274delGC; p.W91fs*57; 17:7676095-7676096 |
breast | carcinoma | Deletion - Frameshift |
c.764T>G; p.I255S; 17:7674199-7674199 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.792_794delACT; p.L265delL; 17:7673826-7673828 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - In frame |
c.409C>A; p.L137M; 17:7675203-7675203 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.838A>G; p.R280G; 17:7673782-7673782 |
thymus | thymic_carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.901C>T; p.P301S; 17:7673719-7673719 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.409C>A; p.L137M; 17:7675203-7675203 |
skin; head_neck | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.598delA; p.N200fs*47; 17:7674933-7674933 |
central_nervous_system; brain | glioma; astrocytoma | Deletion - Frameshift |
c.605G>A; p.R202H; 17:7674926-7674926 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.412_415delGCCA; p.A138fs*31; 17:7675197-7675200 |
ovary | carcinoma; mucinous_carcinoma | Deletion - Frameshift |
c.605G>A; p.R202H; 17:7674926-7674926 |
breast | carcinoma | Substitution - Missense |
c.764T>G; p.I255S; 17:7674199-7674199 |
oesophagus | carcinoma | Substitution - Missense |
c.628A>G; p.N210D; 17:7674903-7674903 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.598delA; p.N200fs*47; 17:7674933-7674933 |
breast | other; neoplasm | Deletion - Frameshift |
c.874A>G; p.K292E; 17:7673746-7673746 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.838A>G; p.R280G; 17:7673782-7673782 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.497C>T; p.S166L; 17:7675115-7675115 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.838A>G; p.R280G; 17:7673782-7673782 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.547T>C; p.S183P; 17:7675065-7675065 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.697_726del30; p.H233_C242del10; 17:7674237-7674266 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.635T>C; p.F212S; 17:7674896-7674896 |
breast | carcinoma | Substitution - Missense |
c.359A>C; p.K120T; 17:7676010-7676010 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.792_794delACT; p.L265delL; 17:7673826-7673828 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.838A>G; p.R280G; 17:7673782-7673782 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.305C>T; p.T102I; 17:7676064-7676064 |
adrenal_gland; adrenal_gland | adrenal_cortical_adenoma | Substitution - Missense |
c.628A>G; p.N210D; 17:7674903-7674903 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.838A>G; p.R280G; 17:7673782-7673782 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.469_474delGTCCGC; p.V157_R158delVR; 17:7675138-7675143 |
stomach | carcinoma; adenocarcinoma | Deletion - In frame |
c.838A>G; p.R280G; 17:7673782-7673782 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.715_721delAACAGTT; p.N239fs*6; 17:7674242-7674248 |
bone | osteosarcoma | Deletion - Frameshift |
c.598delA; p.N200fs*47; 17:7674933-7674933 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.633delT; p.R213fs*34; 17:7674898-7674898 |
ovary | carcinoma | Deletion - Frameshift |
c.497C>T; p.S166L; 17:7675115-7675115 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.635T>C; p.F212S; 17:7674896-7674896 |
breast | carcinoma | Substitution - Missense |
c.838A>G; p.R280G; 17:7673782-7673782 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.547T>C; p.S183P; 17:7675065-7675065 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.703A>T; p.N235Y; 17:7674260-7674260 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.764T>G; p.I255S; 17:7674199-7674199 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.598delA; p.N200fs*47; 17:7674933-7674933 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.703A>T; p.N235Y; 17:7674260-7674260 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.764T>G; p.I255S; 17:7674199-7674199 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.838A>G; p.R280G; 17:7673782-7673782 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.598delA; p.N200fs*47; 17:7674933-7674933 |
upper_aerodigestive_tract; mouth | other; dysplasia | Deletion - Frameshift |
c.497C>T; p.S166L; 17:7675115-7675115 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.838A>G; p.R280G; 17:7673782-7673782 |
liver | carcinoma | Substitution - Missense |
c.764T>G; p.I255S; 17:7674199-7674199 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.764T>G; p.I255S; 17:7674199-7674199 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.838A>G; p.R280G; 17:7673782-7673782 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.764T>G; p.I255S; 17:7674199-7674199 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.305C>T; p.T102I; 17:7676064-7676064 |
adrenal_gland; adrenal_gland | adrenal_cortical_adenoma | Substitution - Missense |
c.838A>G; p.R280G; 17:7673782-7673782 |
pancreas | carcinoma | Substitution - Missense |
c.422G>T; p.C141F; 17:7675190-7675190 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.901C>T; p.P301S; 17:7673719-7673719 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.854_855delAG; p.E285fs*20; 17:7673765-7673766 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.529delC; p.H178fs*69; 17:7675083-7675083 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.471C>A; p.V157V; 17:7675141-7675141 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.305C>T; p.T102I; 17:7676064-7676064 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.305C>T; p.T102I; 17:7676064-7676064 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.838A>G; p.R280G; 17:7673782-7673782 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.422G>T; p.C141F; 17:7675190-7675190 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.838A>G; p.R280G; 17:7673782-7673782 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.497C>T; p.S166L; 17:7675115-7675115 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.838A>G; p.R280G; 17:7673782-7673782 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.547T>C; p.S183P; 17:7675065-7675065 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.838A>G; p.R280G; 17:7673782-7673782 |
liver | carcinoma | Substitution - Missense |
c.681T>G; p.S227S; 17:7674282-7674282 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.529delC; p.H178fs*69; 17:7675083-7675083 |
thyroid | carcinoma; anaplastic_carcinoma | Deletion - Frameshift |
c.359A>G; p.K120R; 17:7676010-7676010 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.874A>G; p.K292E; 17:7673746-7673746 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.422G>T; p.C141F; 17:7675190-7675190 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.449_461del13; p.P152fs*14; 17:7675151-7675163 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.838A>G; p.R280G; 17:7673782-7673782 |
ovary | carcinoma | Substitution - Missense |
c.764T>G; p.I255S; 17:7674199-7674199 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.497C>T; p.S166L; 17:7675115-7675115 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.309C>G; p.Y103*; 17:7676060-7676060 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.725G>T; p.C242F; 17:7674238-7674238 |
pancreas | carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.376_396del21; p.Y126_K132delYSPALNK; 17:7675216-7675236 |
ovary | other; neoplasm | Deletion - In frame |
c.475G>C; p.A159P; 17:7675137-7675137 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.702C>G; p.Y234*; 17:7674261-7674261 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.376_396del21; p.Y126_K132delYSPALNK; 17:7675216-7675236 |
breast | other; neoplasm | Deletion - In frame |
c.151_152insG; p.E51fs*6; 17:7676217-7676218 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.728T>C; p.M243T; 17:7674235-7674235 |
soft_tissue; striated_muscle | rhabdomyosarcoma; alveolar | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.309C>G; p.Y103*; 17:7676060-7676060 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.725G>T; p.C242F; 17:7674238-7674238 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.475G>C; p.A159P; 17:7675137-7675137 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.475G>C; p.A159P; 17:7675137-7675137 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.475G>C; p.A159P; 17:7675137-7675137 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
breast | hyperplasia | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614A>T; p.Y205F; 17:7674917-7674917 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.309C>G; p.Y103*; 17:7676060-7676060 |
skin; trunk | malignant_melanoma | Substitution - Nonsense |
c.475G>C; p.A159P; 17:7675137-7675137 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.424C>T; p.P142S; 17:7675188-7675188 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.424C>T; p.P142S; 17:7675188-7675188 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.614A>T; p.Y205F; 17:7674917-7674917 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.475G>C; p.A159P; 17:7675137-7675137 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.475G>C; p.A159P; 17:7675137-7675137 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.475G>C; p.A159P; 17:7675137-7675137 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_III | Substitution - Missense |
c.919+24G>A; p.?; 17:7673677-7673677 |
breast | carcinoma | Unknown |
c.376_396del21; p.Y126_K132delYSPALNK; 17:7675216-7675236 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - In frame |
c.614A>T; p.Y205F; 17:7674917-7674917 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.662A>G; p.E221G; 17:7674869-7674869 |
lung | carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.392A>G; p.N131S; 17:7675220-7675220 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.392A>G; p.N131S; 17:7675220-7675220 |
breast | carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
eye; conjunctiva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.309C>G; p.Y103*; 17:7676060-7676060 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.475G>C; p.A159P; 17:7675137-7675137 |
breast | carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.475G>C; p.A159P; 17:7675137-7675137 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.475G>C; p.A159P; 17:7675137-7675137 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
stomach | carcinoma | Substitution - Missense |
c.475G>C; p.A159P; 17:7675137-7675137 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.728T>C; p.M243T; 17:7674235-7674235 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.475G>C; p.A159P; 17:7675137-7675137 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.424C>T; p.P142S; 17:7675188-7675188 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
ovary | carcinoma; mixed_carcinoma | Substitution - Missense |
c.702C>G; p.Y234*; 17:7674261-7674261 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.475G>C; p.A159P; 17:7675137-7675137 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.475G>C; p.A159P; 17:7675137-7675137 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.662A>G; p.E221G; 17:7674869-7674869 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.806G>T; p.S269I; 17:7673814-7673814 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.728T>C; p.M243T; 17:7674235-7674235 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.700_704delTACAA; p.Y234fs*4; 17:7674259-7674263 |
breast | carcinoma | Deletion - Frameshift |
c.725G>T; p.C242F; 17:7674238-7674238 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.475G>C; p.A159P; 17:7675137-7675137 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.475G>C; p.A159P; 17:7675137-7675137 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.376_396del21; p.Y126_K132delYSPALNK; 17:7675216-7675236 |
ovary | other; neoplasm | Deletion - In frame |
c.376_396del21; p.Y126_K132delYSPALNK; 17:7675216-7675236 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.933_934insA; p.T312fs*25; 17:7673594-7673595 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.725G>T; p.C242F; 17:7674238-7674238 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.744_745delGA; p.R249fs*14; 17:7674218-7674219 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.662A>G; p.E221G; 17:7674869-7674869 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
ovary | carcinoma | Substitution - Missense |
c.614A>T; p.Y205F; 17:7674917-7674917 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.614A>T; p.Y205F; 17:7674917-7674917 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.475G>C; p.A159P; 17:7675137-7675137 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.758_759insN; p.I254fs*10; 17:7674204-7674205 |
prostate | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.372delC; p.C124fs*1; 17:7675997-7675997 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.725G>T; p.C242F; 17:7674238-7674238 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.475G>C; p.A159P; 17:7675137-7675137 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.392A>G; p.N131S; 17:7675220-7675220 |
liver | carcinoma | Substitution - Missense |
c.1026A>G; p.R342R; 17:7670683-7670683 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.725G>T; p.C242F; 17:7674238-7674238 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.806G>T; p.S269I; 17:7673814-7673814 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.392A>G; p.N131S; 17:7675220-7675220 |
liver | carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
breast | carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.475G>C; p.A159P; 17:7675137-7675137 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.614A>T; p.Y205F; 17:7674917-7674917 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.309C>G; p.Y103*; 17:7676060-7676060 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.919+24G>A; p.?; 17:7673677-7673677 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.103delT; p.L35fs*9; 17:7676266-7676266 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.725G>T; p.C242F; 17:7674238-7674238 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.475G>C; p.A159P; 17:7675137-7675137 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.392A>G; p.N131S; 17:7675220-7675220 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.475G>C; p.A159P; 17:7675137-7675137 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.614A>T; p.Y205F; 17:7674917-7674917 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.475G>C; p.A159P; 17:7675137-7675137 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>T; p.C242F; 17:7674238-7674238 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.728T>C; p.M243T; 17:7674235-7674235 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.826_841del16; p.A276fs*64; 17:7673779-7673794 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.725G>T; p.C242F; 17:7674238-7674238 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.468_477del10; p.V157fs*10; 17:7675135-7675144 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.728T>C; p.M243T; 17:7674235-7674235 |
breast | carcinoma | Substitution - Missense |
c.1026A>G; p.R342R; 17:7670683-7670683 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.376_396del21; p.Y126_K132delYSPALNK; 17:7675216-7675236 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.448_453delACACCC; p.T150_P151delTP; 17:7675159-7675164 |
ovary | other; neoplasm | Deletion - In frame |
c.508A>T; p.T170S; 17:7675104-7675104 |
prostate | carcinoma | Substitution - Missense |
c.722C>G; p.S241C; 17:7674241-7674241 |
breast | carcinoma | Substitution - Missense |
c.503A>G; p.H168R; 17:7675109-7675109 |
endometrium | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>G; p.S241C; 17:7674241-7674241 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_myelodysplastic_syndrome_therapy_related_NOS | Substitution - Missense |
c.722C>G; p.S241C; 17:7674241-7674241 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.831T>G; p.C277W; 17:7673789-7673789 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.722C>G; p.S241C; 17:7674241-7674241 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.993+1G>A; p.?; 17:7673534-7673534 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Unknown |
c.486C>G; p.I162M; 17:7675126-7675126 |
large_intestine | adenoma | Substitution - Missense |
c.672G>A; p.E224E; 17:7674859-7674859 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.503A>G; p.H168R; 17:7675109-7675109 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>G; p.S241C; 17:7674241-7674241 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.324_334del11; p.F109fs*36; 17:7676035-7676045 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.706_708delTAC; p.Y236delY; 17:7674255-7674257 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_II | Deletion - In frame |
c.775_776GA>AG; p.D259S; 17:7674187-7674188 |
oesophagus | carcinoma | Substitution - Missense |
c.737T>C; p.M246T; 17:7674226-7674226 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.1025G>C; p.R342P; 17:7670684-7670684 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.722C>G; p.S241C; 17:7674241-7674241 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.993+1G>A; p.?; 17:7673534-7673534 |
large_intestine; colon | adenoma | Unknown |
c.672G>A; p.E224E; 17:7674859-7674859 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.814_876del63; p.V272_K292del21; 17:7673744-7673806 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.737T>C; p.M246T; 17:7674226-7674226 |
breast | carcinoma | Substitution - Missense |
c.722C>G; p.S241C; 17:7674241-7674241 |
ovary | carcinoma | Substitution - Missense |
c.722C>G; p.S241C; 17:7674241-7674241 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.722C>G; p.S241C; 17:7674241-7674241 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.283T>C; p.S95P; 17:7676086-7676086 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>G; p.S241C; 17:7674241-7674241 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>G; p.S241C; 17:7674241-7674241 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1025G>C; p.R342P; 17:7670684-7670684 |
kidney | Wilms_tumour | Substitution - Missense |
c.722C>G; p.S241C; 17:7674241-7674241 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.722C>G; p.S241C; 17:7674241-7674241 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.831T>G; p.C277W; 17:7673789-7673789 |
breast | carcinoma | Substitution - Missense |
c.993+1G>A; p.?; 17:7673534-7673534 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.993+1G>A; p.?; 17:7673534-7673534 |
skin; face | carcinoma; basal_cell_carcinoma | Unknown |
c.722C>G; p.S241C; 17:7674241-7674241 |
ovary | other; neoplasm | Substitution - Missense |
c.722C>G; p.S241C; 17:7674241-7674241 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.283T>C; p.S95P; 17:7676086-7676086 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.663G>T; p.E221D; 17:7674868-7674868 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.101_102delCC; p.P34fs*8; 17:7676267-7676268 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.503A>G; p.H168R; 17:7675109-7675109 |
ovary | other; neoplasm | Substitution - Missense |
c.993+1G>A; p.?; 17:7673534-7673534 |
pancreas | carcinoma | Unknown |
c.672G>A; p.E224E; 17:7674859-7674859 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.722C>G; p.S241C; 17:7674241-7674241 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.503A>G; p.H168R; 17:7675109-7675109 |
soft_tissue | sarcoma | Substitution - Missense |
c.993+1G>A; p.?; 17:7673534-7673534 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.1025G>C; p.R342P; 17:7670684-7670684 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.737T>C; p.M246T; 17:7674226-7674226 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.706_708delTAC; p.Y236delY; 17:7674255-7674257 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.843_844insN; p.R282fs*24; 17:7673776-7673777 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Insertion - Frameshift |
c.722C>G; p.S241C; 17:7674241-7674241 |
endometrium | carcinoma; adenocarcinoma | Substitution - Missense |
c.503A>G; p.H168R; 17:7675109-7675109 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.503A>G; p.H168R; 17:7675109-7675109 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.766_767insA; p.T256fs*8; 17:7674196-7674197 |
breast | carcinoma | Insertion - Frameshift |
c.1025G>C; p.R342P; 17:7670684-7670684 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.503A>G; p.H168R; 17:7675109-7675109 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>G; p.S241C; 17:7674241-7674241 |
breast | carcinoma | Substitution - Missense |
c.722C>G; p.S241C; 17:7674241-7674241 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.722C>G; p.S241C; 17:7674241-7674241 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.993+1G>A; p.?; 17:7673534-7673534 |
ovary | carcinoma | Unknown |
c.503A>G; p.H168R; 17:7675109-7675109 |
ovary | other; neoplasm | Substitution - Missense |
c.766_767insA; p.T256fs*8; 17:7674196-7674197 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.766_767insA; p.T256fs*8; 17:7674196-7674197 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Insertion - Frameshift |
c.459_460insN; p.G154fs*27; 17:7675152-7675153 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.722C>G; p.S241C; 17:7674241-7674241 |
breast | carcinoma | Substitution - Missense |
c.756C>A; p.L252L; 17:7674207-7674207 |
stomach | carcinoma | Substitution - coding silent |
c.672G>A; p.E224E; 17:7674859-7674859 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.486C>G; p.I162M; 17:7675126-7675126 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.283T>C; p.S95P; 17:7676086-7676086 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.503A>G; p.H168R; 17:7675109-7675109 |
pancreas | carcinoma | Substitution - Missense |
c.722C>G; p.S241C; 17:7674241-7674241 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.503A>G; p.H168R; 17:7675109-7675109 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.460_468delGGCACCCGC; p.G154_R156delGTR; 17:7675144-7675152 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.1025G>C; p.R342P; 17:7670684-7670684 |
breast | carcinoma | Substitution - Missense |
c.503A>G; p.H168R; 17:7675109-7675109 |
breast | carcinoma | Substitution - Missense |
c.722C>G; p.S241C; 17:7674241-7674241 |
lung | carcinoma | Substitution - Missense |
c.672G>A; p.E224E; 17:7674859-7674859 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.664_667delCCGC; p.P222fs*24; 17:7674864-7674867 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.706_708delTAC; p.Y236delY; 17:7674255-7674257 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.672G>A; p.E224E; 17:7674859-7674859 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.503A>G; p.H168R; 17:7675109-7675109 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.722C>G; p.S241C; 17:7674241-7674241 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.737T>C; p.M246T; 17:7674226-7674226 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.554delG; p.S185fs*62; 17:7675058-7675058 |
breast | carcinoma | Deletion - Frameshift |
c.722C>G; p.S241C; 17:7674241-7674241 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1025G>C; p.R342P; 17:7670684-7670684 |
liver | carcinoma | Substitution - Missense |
c.1025G>C; p.R342P; 17:7670684-7670684 |
liver | carcinoma | Substitution - Missense |
c.706_708delTAC; p.Y236delY; 17:7674255-7674257 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.722C>G; p.S241C; 17:7674241-7674241 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.993+1G>A; p.?; 17:7673534-7673534 |
soft_tissue; fibrous_tissue_and_uncertain_o | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | Unknown |
c.737T>C; p.M246T; 17:7674226-7674226 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.672G>A; p.E224E; 17:7674859-7674859 |
liver | carcinoma | Substitution - coding silent |
c.101_102delCC; p.P34fs*8; 17:7676267-7676268 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.993+1G>A; p.?; 17:7673534-7673534 |
stomach | carcinoma; intestinal_adenocarcinoma | Unknown |
c.502C>G; p.H168D; 17:7675110-7675110 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.993+1G>A; p.?; 17:7673534-7673534 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.486C>G; p.I162M; 17:7675126-7675126 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>G; p.S241C; 17:7674241-7674241 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1025G>C; p.R342P; 17:7670684-7670684 |
breast | carcinoma | Substitution - Missense |
c.525_526CT>TA; p.C176S; 17:7675086-7675087 |
breast | carcinoma | Substitution - Missense |
c.503A>G; p.H168R; 17:7675109-7675109 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.993+1G>A; p.?; 17:7673534-7673534 |
kidney | other; neoplasm | Unknown |
c.229delC; p.P77fs*46; 17:7676140-7676140 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.469_480del12; p.V157_M160delVRAM; 17:7675132-7675143 |
lung | carcinoma; small_cell_carcinoma | Deletion - In frame |
c.993+1G>A; p.?; 17:7673534-7673534 |
ovary | other; neoplasm | Unknown |
c.722C>G; p.S241C; 17:7674241-7674241 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.993+1G>A; p.?; 17:7673534-7673534 |
breast | carcinoma | Unknown |
c.737T>C; p.M246T; 17:7674226-7674226 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.673-18_677del23; p.?; 17:7674286-7674308 |
lung | carcinoma; adenocarcinoma | Unknown |
c.722C>G; p.S241C; 17:7674241-7674241 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.637_638delCG; p.R213fs*2; 17:7674893-7674894 |
urinary_tract; bladder | carcinoma | Deletion - Frameshift |
c.672G>A; p.E224E; 17:7674859-7674859 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1025G>C; p.R342P; 17:7670684-7670684 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.737T>C; p.M246T; 17:7674226-7674226 |
breast | carcinoma | Substitution - Missense |
c.797_801delGACGG; p.G266fs*4; 17:7673819-7673823 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.503A>G; p.H168R; 17:7675109-7675109 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.480G>C; p.M160I; 17:7675132-7675132 |
skin; trunk | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.672G>A; p.E224E; 17:7674859-7674859 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.993+1G>A; p.?; 17:7673534-7673534 |
breast | carcinoma | Unknown |
c.459_460insN; p.G154fs*27; 17:7675152-7675153 |
skin | carcinoma; basal_cell_carcinoma | Insertion - Frameshift |
c.737T>C; p.M246T; 17:7674226-7674226 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.993+1G>A; p.?; 17:7673534-7673534 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.1025G>C; p.R342P; 17:7670684-7670684 |
central_nervous_system; medulla | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.993+1G>A; p.?; 17:7673534-7673534 |
NS | NS | Unknown |
c.722C>G; p.S241C; 17:7674241-7674241 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.503A>G; p.H168R; 17:7675109-7675109 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.87_88CA>GG; p.N29_N30>KD; 17:7676390-7676391 |
breast | carcinoma | Complex - compound substitution |
c.839G>C; p.R280T; 17:7673781-7673781 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.761T>G; p.I254S; 17:7674202-7674202 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
breast | carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.817delC; p.R273fs*72; 17:7673803-7673803 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.761T>G; p.I254S; 17:7674202-7674202 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.425C>A; p.P142H; 17:7675187-7675187 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.740_745delACCGGA; p.N247_R248delNR; 17:7674218-7674223 |
urinary_tract; bladder | carcinoma | Deletion - In frame |
c.824G>A; p.C275Y; 17:7673796-7673796 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.800delG; p.N268fs*77; 17:7673820-7673820 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.824G>A; p.C275Y; 17:7673796-7673796 |
large_intestine | adenoma | Substitution - Missense |
c.753_754insNNNN; p.L252fs*13; 17:7674209-7674210 |
stomach | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.824G>A; p.C275Y; 17:7673796-7673796 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.216delC; p.V73fs*50; 17:7676153-7676153 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
breast | carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
central_nervous_system; thalamus | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.545G>A; p.C182Y; 17:7675067-7675067 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.794T>G; p.L265R; 17:7673826-7673826 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.669_672+36del40; p.?; 17:7674823-7674862 |
soft_tissue | sarcoma | Unknown |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.761T>G; p.I254S; 17:7674202-7674202 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.869G>T; p.R290L; 17:7673751-7673751 |
ovary | carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
lung | carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
skin; face | in_situ_epithelial_neoplasm; Bowen_disease | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.817delC; p.R273fs*72; 17:7673803-7673803 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.793C>T; p.L265L; 17:7673827-7673827 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.824G>A; p.C275Y; 17:7673796-7673796 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
breast | carcinoma | Substitution - Missense |
c.761T>G; p.I254S; 17:7674202-7674202 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.794T>G; p.L265R; 17:7673826-7673826 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
breast | carcinoma | Substitution - Missense |
c.376T>G; p.Y126D; 17:7675236-7675236 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.869G>T; p.R290L; 17:7673751-7673751 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.376T>G; p.Y126D; 17:7675236-7675236 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.376T>G; p.Y126D; 17:7675236-7675236 |
prostate | carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.813_814insNN; p.V272fs*74; 17:7673806-7673807 |
breast | carcinoma | Insertion - Frameshift |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
breast | carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.892G>A; p.E298K; 17:7673728-7673728 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.376T>G; p.Y126D; 17:7675236-7675236 |
breast | carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
bone | osteosarcoma | Substitution - Missense |
c.794T>G; p.L265R; 17:7673826-7673826 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.216delC; p.V73fs*50; 17:7676153-7676153 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.824G>A; p.C275Y; 17:7673796-7673796 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.545G>A; p.C182Y; 17:7675067-7675067 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
NS | NS | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.761T>G; p.I254S; 17:7674202-7674202 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.376T>G; p.Y126D; 17:7675236-7675236 |
pancreas | carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.761T>G; p.I254S; 17:7674202-7674202 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.761T>G; p.I254S; 17:7674202-7674202 |
endometrium | carcinoma; adenocarcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
breast | carcinoma | Substitution - Missense |
c.643_652del10; p.S215fs*29; 17:7674879-7674888 |
oesophagus | other; Barrett_oesophagus | Deletion - Frameshift |
c.824G>A; p.C275Y; 17:7673796-7673796 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
prostate | carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.761T>G; p.I254S; 17:7674202-7674202 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.665delC; p.P222fs*25; 17:7674866-7674866 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Deletion - Frameshift |
c.824G>A; p.C275Y; 17:7673796-7673796 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.636delT; p.R213fs*34; 17:7674895-7674895 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.839G>C; p.R280T; 17:7673781-7673781 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
skin; leg | malignant_melanoma; nodular | Substitution - Missense |
c.486C>A; p.I162I; 17:7675126-7675126 |
stomach | carcinoid-endocrine_tumour | Substitution - coding silent |
c.824G>A; p.C275Y; 17:7673796-7673796 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.425C>A; p.P142H; 17:7675187-7675187 |
stomach | carcinoid-endocrine_tumour | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
breast | carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
pancreas | carcinoma | Substitution - Missense |
c.869G>T; p.R290L; 17:7673751-7673751 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.376T>G; p.Y126D; 17:7675236-7675236 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
breast | carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.869G>T; p.R290L; 17:7673751-7673751 |
vulva | carcinoma | Substitution - Missense |
c.761T>G; p.I254S; 17:7674202-7674202 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
breast | carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.425C>A; p.P142H; 17:7675187-7675187 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.376T>G; p.Y126D; 17:7675236-7675236 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.376T>G; p.Y126D; 17:7675236-7675236 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
breast | carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.783_791delTGGTAATCT; p.S261_L264>R; 17:7673829-7673837 |
ovary | carcinoma | Complex - deletion inframe |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.919+1G>T; p.?; 17:7673700-7673700 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.217G>A; p.V73M; 17:7676152-7676152 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.794T>G; p.L265R; 17:7673826-7673826 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.217G>A; p.V73M; 17:7676152-7676152 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
skin | malignant_melanoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
ovary | carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.486C>A; p.I162I; 17:7675126-7675126 |
haematopoietic_and_lymphoid_tissue; testis | lymphoid_neoplasm | Substitution - coding silent |
c.824G>A; p.C275Y; 17:7673796-7673796 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
vagina | carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.824G>A; p.C275Y; 17:7673796-7673796 |
central_nervous_system; brain | glioma; gliosarcoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.369_370insNNNNN; p.C124fs*48; 17:7675999-7676000 |
breast | carcinoma | Insertion - Frameshift |
c.216delC; p.V73fs*50; 17:7676153-7676153 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.376T>G; p.Y126D; 17:7675236-7675236 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.839G>C; p.R280T; 17:7673781-7673781 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.376T>G; p.Y126D; 17:7675236-7675236 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1014C>G; p.F338L; 17:7670695-7670695 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.91G>A; p.V31I; 17:7676387-7676387 |
genital_tract; extragonadal | germ_cell_tumour; yolk_sac_tumour | Substitution - Missense |
c.91G>A; p.V31I; 17:7676387-7676387 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.487delT; p.Y163fs*7; 17:7675125-7675125 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.375+17G>A; p.?; 17:7675977-7675977 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Unknown |
c.1039G>A; p.A347T; 17:7670670-7670670 |
breast | carcinoma | Substitution - Missense |
c.91G>A; p.V31I; 17:7676387-7676387 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.620A>G; p.D207G; 17:7674911-7674911 |
breast | carcinoma | Substitution - Missense |
c.791T>C; p.L264P; 17:7673829-7673829 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.636T>A; p.F212L; 17:7674895-7674895 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; MALT_lymphoma | Substitution - Missense |
c.772_778delGAAGACT; p.E258fs*85; 17:7674185-7674191 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.1004delG; p.R335fs*10; 17:7670705-7670705 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.620A>G; p.D207G; 17:7674911-7674911 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.730delG; p.G244fs*3; 17:7674233-7674233 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.91G>A; p.V31I; 17:7676387-7676387 |
adrenal_gland; adrenal_gland | adrenal_cortical_adenoma; aldosterone_producing | Substitution - Missense |
c.1051A>T; p.K351*; 17:7670658-7670658 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.581T>A; p.L194H; 17:7674950-7674950 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.375+17G>A; p.?; 17:7675977-7675977 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Unknown |
c.730delG; p.G244fs*3; 17:7674233-7674233 |
stomach | carcinoma | Deletion - Frameshift |
c.375+17G>A; p.?; 17:7675977-7675977 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Unknown |
c.849C>T; p.R283R; 17:7673771-7673771 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.675T>C; p.V225V; 17:7674288-7674288 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.620A>G; p.D207G; 17:7674911-7674911 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.832delC; p.P278fs*67; 17:7673788-7673788 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.464_481del18; p.R156_A161del; 17:7675131-7675148 |
pancreas | NS | Deletion - In frame |
c.471_472insNNNN; p.R158fs*24; 17:7675140-7675141 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.636T>A; p.F212L; 17:7674895-7674895 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; MALT_lymphoma | Substitution - Missense |
c.832delC; p.P278fs*67; 17:7673788-7673788 |
soft_tissue | sarcoma | Deletion - Frameshift |
c.730delG; p.G244fs*3; 17:7674233-7674233 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.91G>A; p.V31I; 17:7676387-7676387 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1039G>A; p.A347T; 17:7670670-7670670 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.581T>A; p.L194H; 17:7674950-7674950 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.849C>T; p.R283R; 17:7673771-7673771 |
thyroid | carcinoma; papillary_carcinoma | Substitution - coding silent |
c.739_747delAACCGGAGG; p.N247_R249delNRR; 17:7674216-7674224 |
ovary | sex_cord-stromal_tumour; granulosa_cell_tumour | Deletion - In frame |
c.456_457insNNNNNNNNN; p.P152_P153insXXX; 17:7675155-7675156 |
large_intestine | carcinoma; adenocarcinoma | Insertion - In frame |
c.417_418delGA; p.K139fs*9; 17:7675194-7675195 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.810_811insN; p.E271fs*35; 17:7673809-7673810 |
liver | carcinoma; hepatocellular_carcinoma | Insertion - Frameshift |
c.91G>A; p.V31I; 17:7676387-7676387 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.779C>A; p.S260Y; 17:7674184-7674184 |
cervix | carcinoma; adenocarcinoma | Substitution - Missense |
c.581T>A; p.L194H; 17:7674950-7674950 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.779C>A; p.S260Y; 17:7674184-7674184 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.730delG; p.G244fs*3; 17:7674233-7674233 |
lung | carcinoma | Deletion - Frameshift |
c.832delC; p.P278fs*67; 17:7673788-7673788 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.375+17G>A; p.?; 17:7675977-7675977 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Unknown |
c.1039G>A; p.A347T; 17:7670670-7670670 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.763_764delAT; p.I255fs*8; 17:7674199-7674200 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.582_586delTATCC; p.I195fs*12; 17:7674945-7674949 |
skin; face | in_situ_epithelial_neoplasm; actinic_keratosis | Deletion - Frameshift |
c.581T>A; p.L194H; 17:7674950-7674950 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; MALT_lymphoma | Substitution - Missense |
c.581T>A; p.L194H; 17:7674950-7674950 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; MALT_lymphoma | Substitution - Missense |
c.445_457del13; p.S149fs*17; 17:7675155-7675167 |
breast | carcinoma | Deletion - Frameshift |
c.581T>A; p.L194H; 17:7674950-7674950 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.605_606insN; p.V203fs*6; 17:7674925-7674926 |
lung | carcinoma; non_small_cell_carcinoma | Insertion - Frameshift |
c.605_606insN; p.V203fs*6; 17:7674925-7674926 |
lung | carcinoma; non_small_cell_carcinoma | Insertion - Frameshift |
c.620A>G; p.D207G; 17:7674911-7674911 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.487delT; p.Y163fs*7; 17:7675125-7675125 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.856G>A; p.E286K; 17:7673764-7673764 |
skin | malignant_melanoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.587G>A; p.R196Q; 17:7674944-7674944 |
breast | carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
stomach | carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
liver | carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.783-1_792delGTGGTAATCTA; p.?; 17:7673828-7673838 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.404G>T; p.C135F; 17:7675208-7675208 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
ovary | carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.442_443delGA; p.D148fs*32; 17:7675169-7675170 |
prostate | hyperplasia | Deletion - Frameshift |
c.638G>T; p.R213L; 17:7674893-7674893 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.826G>C; p.A276P; 17:7673794-7673794 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.511_537del27; p.V172_E180delVVRRCPHHE; 17:7675075-7675101 |
large_intestine; appendix | carcinoma; adenocarcinoma | Deletion - In frame |
c.638G>T; p.R213L; 17:7674893-7674893 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.514G>T; p.V172F; 17:7675098-7675098 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.317delG; p.S106fs*17; 17:7676052-7676052 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.967C>G; p.L323V; 17:7673561-7673561 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.514G>T; p.V172F; 17:7675098-7675098 |
breast | carcinoma | Substitution - Missense |
c.587G>A; p.R196Q; 17:7674944-7674944 |
soft_tissue; fibrous_tissue_and_uncertain_o | synovial_sarcoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.560_567GTCTGGCC>19; p.G187fs*64; 17:7674964-7674971 |
lung | carcinoma; non_small_cell_carcinoma | Complex - frameshift |
c.404G>T; p.C135F; 17:7675208-7675208 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.873G>C; p.K291N; 17:7673747-7673747 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.691A>G; p.T231A; 17:7674272-7674272 |
thyroid | carcinoma; papillary_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
skin | malignant_melanoma | Substitution - Missense |
c.826G>C; p.A276P; 17:7673794-7673794 |
oesophagus | carcinoma | Substitution - Missense |
c.826G>C; p.A276P; 17:7673794-7673794 |
thymus | thymoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
oesophagus | carcinoma | Substitution - Missense |
c.766_772delACACTGG; p.T256fs*87; 17:7674191-7674197 |
ovary | other; neoplasm | Deletion - Frameshift |
c.856G>A; p.E286K; 17:7673764-7673764 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.514G>T; p.V172F; 17:7675098-7675098 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
prostate | carcinoma | Substitution - Missense |
c.664C>G; p.P222A; 17:7674867-7674867 |
upper_aerodigestive_tract; larynx | carcinoma; spindle_cell_carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.514G>T; p.V172F; 17:7675098-7675098 |
ovary | other; neoplasm | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.826G>C; p.A276P; 17:7673794-7673794 |
breast | carcinoma | Substitution - Missense |
c.514G>T; p.V172F; 17:7675098-7675098 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
skin | in_situ_epithelial_neoplasm; Bowen_disease | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.826G>C; p.A276P; 17:7673794-7673794 |
bone | chondrosarcoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
oesophagus | carcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
prostate | carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.552_557delTAGCGA; p.S185_D186delSD; 17:7675055-7675060 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.97-1_114del19; p.?; 17:7676255-7676273 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.856G>A; p.E286K; 17:7673764-7673764 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.826G>C; p.A276P; 17:7673794-7673794 |
skin; head_neck | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
lung | carcinoma | Substitution - Missense |
c.826G>C; p.A276P; 17:7673794-7673794 |
bone | osteosarcoma | Substitution - Missense |
c.514G>T; p.V172F; 17:7675098-7675098 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
eye; conjunctiva | other; pterygium | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
breast | carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
breast | carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
pituitary | carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
lung | carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
breast | carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
pancreas | carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.619_639del21; p.D207_R213delDDRNTFR; 17:7674892-7674912 |
soft_tissue; smooth_muscle | leiomyosarcoma | Deletion - In frame |
c.826G>C; p.A276P; 17:7673794-7673794 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
thyroid | carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.826G>C; p.A276P; 17:7673794-7673794 |
thymus | thymoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.514G>T; p.V172F; 17:7675098-7675098 |
ovary | other; neoplasm | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
prostate | carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
soft_tissue | small_round_cell_tumour | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
central_nervous_system; cerebellum | other; central_neurocytoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.444T>A; p.D148E; 17:7675168-7675168 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.873G>C; p.K291N; 17:7673747-7673747 |
breast | carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.514G>T; p.V172F; 17:7675098-7675098 |
ovary | other; neoplasm | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
skin | malignant_melanoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
oesophagus | carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
liver | carcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.587G>A; p.R196Q; 17:7674944-7674944 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
breast | carcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.826G>C; p.A276P; 17:7673794-7673794 |
thymus | thymoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
soft_tissue; fat | liposarcoma; pleomorphic | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
central_nervous_system; brain | glioma; oligoastrocytoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
ovary | other; neoplasm | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
oesophagus | carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
skin | malignant_melanoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
eye; conjunctiva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.664_665CC>TT; p.P222L; 17:7674866-7674867 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.744_745ins13; p.R249fs*19; 17:7674218-7674219 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.638G>T; p.R213L; 17:7674893-7674893 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
breast | carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.664delC; p.P222fs*25; 17:7674867-7674867 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.638G>T; p.R213L; 17:7674893-7674893 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
breast | carcinoma | Substitution - Missense |
c.514G>T; p.V172F; 17:7675098-7675098 |
pancreas | carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
central_nervous_system; brain | glioma; oligodendroglioma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
pancreas | carcinoma | Substitution - Missense |
c.444T>A; p.D148E; 17:7675168-7675168 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
bone; scapula | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.826G>C; p.A276P; 17:7673794-7673794 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.514G>T; p.V172F; 17:7675098-7675098 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.587G>A; p.R196Q; 17:7674944-7674944 |
thymus | thymic_carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.514G>T; p.V172F; 17:7675098-7675098 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.514G>T; p.V172F; 17:7675098-7675098 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.514G>T; p.V172F; 17:7675098-7675098 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
liver | carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
breast | carcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.826G>C; p.A276P; 17:7673794-7673794 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473_474GC>TT; p.R158L; 17:7675138-7675139 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.531C>A; p.P177P; 17:7675081-7675081 |
stomach | carcinoid-endocrine_tumour | Substitution - coding silent |
c.856G>A; p.E286K; 17:7673764-7673764 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
upper_aerodigestive_tract; head_neck | carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.514G>T; p.V172F; 17:7675098-7675098 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.826G>C; p.A276P; 17:7673794-7673794 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.994A>G; p.I332V; 17:7670715-7670715 |
ovary | carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.514G>T; p.V172F; 17:7675098-7675098 |
oesophagus | carcinoma | Substitution - Missense |
c.514G>T; p.V172F; 17:7675098-7675098 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
breast | carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
central_nervous_system; thalamus | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.173C>T; p.P58L; 17:7676196-7676196 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.826G>C; p.A276P; 17:7673794-7673794 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.826G>C; p.A276P; 17:7673794-7673794 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.498A>C; p.S166S; 17:7675114-7675114 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.404G>T; p.C135F; 17:7675208-7675208 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
upper_aerodigestive_tract; head_neck | carcinoma | Substitution - Missense |
c.394_395AA>TG; p.K132W; 17:7675217-7675218 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
ovary | carcinoma | Substitution - Missense |
c.582delT; p.I195fs*52; 17:7674949-7674949 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.404G>T; p.C135F; 17:7675208-7675208 |
ovary | other; neoplasm | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
breast | carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.186delA; p.A63fs*60; 17:7676183-7676183 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.404G>T; p.C135F; 17:7675208-7675208 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
pancreas | carcinoma | Substitution - Missense |
c.691A>G; p.T231A; 17:7674272-7674272 |
prostate | carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
soft_tissue | small_round_cell_tumour | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.826G>C; p.A276P; 17:7673794-7673794 |
soft_tissue; fat | liposarcoma | Substitution - Missense |
c.822_831del10; p.C275fs*67; 17:7673789-7673798 |
breast | carcinoma | Deletion - Frameshift |
c.856G>A; p.E286K; 17:7673764-7673764 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.514G>T; p.V172F; 17:7675098-7675098 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.404G>T; p.C135F; 17:7675208-7675208 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.638G>T; p.R213L; 17:7674893-7674893 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.873G>C; p.K291N; 17:7673747-7673747 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.856G>A; p.E286K; 17:7673764-7673764 |
ovary | other; neoplasm | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.560-2A>G; p.?; 17:7674973-7674973 |
liver | carcinoma | Unknown |
c.488A>G; p.Y163C; 17:7675124-7675124 |
liver | carcinoma | Substitution - Missense |
c.794T>C; p.L265P; 17:7673826-7673826 |
small_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.387_388insN; p.L130fs*19; 17:7675224-7675225 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.560-2A>G; p.?; 17:7674973-7674973 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Unknown |
c.606delT; p.V203fs*44; 17:7674925-7674925 |
skin; arm | in_situ_epithelial_neoplasm; actinic_keratosis | Deletion - Frameshift |
c.488A>G; p.Y163C; 17:7675124-7675124 |
breast | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
liver | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
salivary_gland; parotid | adenoma; pleomorphic | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
breast | carcinoma | Substitution - Missense |
c.376-5_376-4delTA; p.?; 17:7675240-7675241 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.488A>G; p.Y163C; 17:7675124-7675124 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.311delA; p.Q104fs*19; 17:7676058-7676058 |
pancreas | carcinoid-endocrine_tumour | Deletion - Frameshift |
c.794T>C; p.L265P; 17:7673826-7673826 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
pancreas | carcinoma | Substitution - Missense |
c.709delA; p.M237fs*10; 17:7674254-7674254 |
breast | carcinoma | Deletion - Frameshift |
c.488A>G; p.Y163C; 17:7675124-7675124 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
oesophagus | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.560-2A>G; p.?; 17:7674973-7674973 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.488A>G; p.Y163C; 17:7675124-7675124 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.298C>T; p.Q100*; 17:7676071-7676071 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
endometrium | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
breast | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.794T>C; p.L265P; 17:7673826-7673826 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.794T>C; p.L265P; 17:7673826-7673826 |
skin | in_situ_epithelial_neoplasm; Bowen_disease | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
breast | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
breast | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
breast | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.560-2A>G; p.?; 17:7674973-7674973 |
pancreas | carcinoma | Unknown |
c.218delT; p.V73fs*50; 17:7676151-7676151 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.488A>G; p.Y163C; 17:7675124-7675124 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.534C>A; p.H178Q; 17:7675078-7675078 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
breast | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.298C>T; p.Q100*; 17:7676071-7676071 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.298C>T; p.Q100*; 17:7676071-7676071 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.298C>T; p.Q100*; 17:7676071-7676071 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.1147C>T; p.L383F; 17:7669644-7669644 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
lung | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
breast | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
breast | carcinoma | Substitution - Missense |
c.794T>C; p.L265P; 17:7673826-7673826 |
breast | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
soft_tissue | sarcoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.560-2A>G; p.?; 17:7674973-7674973 |
central_nervous_system; brain | glioma | Unknown |
c.560-2A>G; p.?; 17:7674973-7674973 |
ovary | carcinoma | Unknown |
c.488A>G; p.Y163C; 17:7675124-7675124 |
ovary | carcinoma | Substitution - Missense |
c.1015G>C; p.E339Q; 17:7670694-7670694 |
breast | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.794T>C; p.L265P; 17:7673826-7673826 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.375_375+1GG>AT; p.?; 17:7675993-7675994 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.298C>T; p.Q100*; 17:7676071-7676071 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.309C>T; p.Y103Y; 17:7676060-7676060 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.488A>G; p.Y163C; 17:7675124-7675124 |
pancreas | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.410T>A; p.L137Q; 17:7675202-7675202 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
liver | carcinoma | Substitution - Missense |
c.794T>C; p.L265P; 17:7673826-7673826 |
lung | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
liver | carcinoma | Substitution - Missense |
c.534C>A; p.H178Q; 17:7675078-7675078 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.298C>T; p.Q100*; 17:7676071-7676071 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.298C>T; p.Q100*; 17:7676071-7676071 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
ovary | adenoma; Brenner_tumour | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.794T>C; p.L265P; 17:7673826-7673826 |
liver | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
breast | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
liver | carcinoma | Substitution - Missense |
c.533_534insC; p.H179fs*2; 17:7675078-7675079 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.488A>G; p.Y163C; 17:7675124-7675124 |
soft_tissue | sarcoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
breast | carcinoma | Substitution - Missense |
c.560-2A>G; p.?; 17:7674973-7674973 |
oesophagus | carcinoma | Unknown |
c.488A>G; p.Y163C; 17:7675124-7675124 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.253_269del17; p.P85fs*58; 17:7676100-7676116 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - Frameshift |
c.919+18G>C; p.?; 17:7673683-7673683 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Unknown |
c.488A>G; p.Y163C; 17:7675124-7675124 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.794T>C; p.L265P; 17:7673826-7673826 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
ovary | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.298C>T; p.Q100*; 17:7676071-7676071 |
skin; head_neck | carcinoma; basal_cell_carcinoma | Substitution - Nonsense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
pancreas | carcinoma | Substitution - Missense |
c.410T>A; p.L137Q; 17:7675202-7675202 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.560-2A>G; p.?; 17:7674973-7674973 |
thyroid | carcinoma; anaplastic_carcinoma | Unknown |
c.298C>T; p.Q100*; 17:7676071-7676071 |
skin | malignant_melanoma | Substitution - Nonsense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.794T>C; p.L265P; 17:7673826-7673826 |
liver | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.463delA; p.T155fs*15; 17:7675149-7675149 |
breast | carcinoma | Deletion - Frameshift |
c.488A>G; p.Y163C; 17:7675124-7675124 |
breast | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
breast | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.774delA; p.D259fs*86; 17:7674189-7674189 |
breast | carcinoma | Deletion - Frameshift |
c.488A>G; p.Y163C; 17:7675124-7675124 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.298C>T; p.Q100*; 17:7676071-7676071 |
adrenal_gland; adrenal_gland | adrenal_cortical_adenoma | Substitution - Nonsense |
c.794T>C; p.L265P; 17:7673826-7673826 |
pancreas | carcinoma | Substitution - Missense |
c.784_810del27; p.G262_F270delGNLLGRNSF; 17:7673810-7673836 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.534C>A; p.H178Q; 17:7675078-7675078 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.794T>C; p.L265P; 17:7673826-7673826 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.298C>T; p.Q100*; 17:7676071-7676071 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm | Substitution - Nonsense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.410T>A; p.L137Q; 17:7675202-7675202 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
ovary | other; neoplasm | Substitution - Missense |
c.794T>C; p.L265P; 17:7673826-7673826 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
breast | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.794T>C; p.L265P; 17:7673826-7673826 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.298C>T; p.Q100*; 17:7676071-7676071 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.534C>A; p.H178Q; 17:7675078-7675078 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.560-2A>G; p.?; 17:7674973-7674973 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.488A>G; p.Y163C; 17:7675124-7675124 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.387_388insN; p.L130fs*19; 17:7675224-7675225 |
breast | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.852_863del12; p.E285_N288del; 17:7673757-7673768 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.488A>G; p.Y163C; 17:7675124-7675124 |
breast | carcinoma | Substitution - Missense |
c.298C>T; p.Q100*; 17:7676071-7676071 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Nonsense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.298C>T; p.Q100*; 17:7676071-7676071 |
adrenal_gland; adrenal_gland | adrenal_cortical_adenoma | Substitution - Nonsense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
ovary | carcinoma | Substitution - Missense |
c.794T>C; p.L265P; 17:7673826-7673826 |
breast | other; neoplasm | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.794T>C; p.L265P; 17:7673826-7673826 |
ovary | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
breast | carcinoma | Substitution - Missense |
c.298C>T; p.Q100*; 17:7676071-7676071 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.534C>A; p.H178Q; 17:7675078-7675078 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.585C>G; p.I195M; 17:7674946-7674946 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
ovary | carcinoma | Substitution - Missense |
c.298C>T; p.Q100*; 17:7676071-7676071 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
liver | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
breast | carcinoma | Substitution - Missense |
c.709delA; p.M237fs*10; 17:7674254-7674254 |
breast | carcinoma | Deletion - Frameshift |
c.488A>G; p.Y163C; 17:7675124-7675124 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.843_844insNNNNNN; p.D281_R282insXX; 17:7673776-7673777 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Insertion - In frame |
c.488A>G; p.Y163C; 17:7675124-7675124 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.784_810del27; p.G262_F270delGNLLGRNSF; 17:7673810-7673836 |
eye; conjunctiva | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.419delC; p.C141fs*29; 17:7675193-7675193 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.488A>G; p.Y163C; 17:7675124-7675124 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.363_369delTGTGACT; p.V122fs*46; 17:7676000-7676006 |
breast | carcinoma | Deletion - Frameshift |
c.488A>G; p.Y163C; 17:7675124-7675124 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
pancreas | carcinoma | Substitution - Missense |
c.794T>C; p.L265P; 17:7673826-7673826 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.794T>C; p.L265P; 17:7673826-7673826 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.794T>C; p.L265P; 17:7673826-7673826 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.488A>G; p.Y163C; 17:7675124-7675124 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
breast | carcinoma | Substitution - Missense |
c.590T>C; p.V197A; 17:7674941-7674941 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
urinary_tract; bladder | papilloma; typical | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
ovary | carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
breast | carcinoma | Substitution - Missense |
c.783-2A>G; p.?; 17:7673839-7673839 |
lung | carcinoma; adenocarcinoma | Unknown |
c.578A>G; p.H193R; 17:7674953-7674953 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.745A>G; p.R249G; 17:7674218-7674218 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
breast | carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.1027G>T; p.E343*; 17:7670682-7670682 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.578A>G; p.H193R; 17:7674953-7674953 |
breast | carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
kidney | Wilms_tumour | Substitution - Missense |
c.592G>A; p.E198K; 17:7674939-7674939 |
skin | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
breast | carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
prostate | carcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.581delT; p.I195fs*52; 17:7674950-7674950 |
breast | carcinoma | Deletion - Frameshift |
c.578A>G; p.H193R; 17:7674953-7674953 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.745A>G; p.R249G; 17:7674218-7674218 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - Missense |
c.915G>T; p.K305N; 17:7673705-7673705 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
ovary | other; neoplasm | Substitution - Missense |
c.444_445insN; p.S149fs*32; 17:7675167-7675168 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Insertion - Frameshift |
c.578A>G; p.H193R; 17:7674953-7674953 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
breast | carcinoma | Substitution - Nonsense |
c.880G>T; p.E294*; 17:7673740-7673740 |
ovary | carcinoma | Substitution - Nonsense |
c.797G>T; p.G266V; 17:7673823-7673823 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.741C>T; p.N247N; 17:7674222-7674222 |
oesophagus | other; dysplasia | Substitution - coding silent |
c.797G>T; p.G266V; 17:7673823-7673823 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.745A>G; p.R249G; 17:7674218-7674218 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.755_763delTCACCATCA; p.I254_T256delIIT; 17:7674200-7674208 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.578A>G; p.H193R; 17:7674953-7674953 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.592G>A; p.E198K; 17:7674939-7674939 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
lung | carcinoma | Substitution - Missense |
c.755_763delTCACCATCA; p.I254_T256delIIT; 17:7674200-7674208 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.797G>T; p.G266V; 17:7673823-7673823 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
breast | carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
lung | carcinoma; undifferentiated_carcinoma | Substitution - Missense |
c.688A>C; p.T230P; 17:7674275-7674275 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.289G>A; p.V97I; 17:7676080-7676080 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.714_715insN; p.N239fs*25; 17:7674248-7674249 |
oesophagus | carcinoma | Insertion - Frameshift |
c.578A>G; p.H193R; 17:7674953-7674953 |
ovary | carcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
pancreas | carcinoma | Substitution - Nonsense |
c.880G>T; p.E294*; 17:7673740-7673740 |
skin; arm | in_situ_epithelial_neoplasm; Bowen_disease | Substitution - Nonsense |
c.745A>G; p.R249G; 17:7674218-7674218 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.444_445insN; p.S149fs*32; 17:7675167-7675168 |
breast | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.797G>T; p.G266V; 17:7673823-7673823 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.688A>C; p.T230P; 17:7674275-7674275 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.714_715insN; p.N239fs*25; 17:7674248-7674249 |
oesophagus | carcinoma | Insertion - Frameshift |
c.797G>T; p.G266V; 17:7673823-7673823 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.578A>G; p.H193R; 17:7674953-7674953 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.97-2A>G; p.?; 17:7676274-7676274 |
lung | carcinoma; adenocarcinoma | Unknown |
c.578A>G; p.H193R; 17:7674953-7674953 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.375G>C; p.T125T; 17:7675994-7675994 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.880G>T; p.E294*; 17:7673740-7673740 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.578A>G; p.H193R; 17:7674953-7674953 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.406C>A; p.Q136K; 17:7675206-7675206 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.724_739del16; p.C242fs*98; 17:7674224-7674239 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Deletion - Frameshift |
c.880G>T; p.E294*; 17:7673740-7673740 |
lung | carcinoma; large_cell_carcinoma | Substitution - Nonsense |
c.578A>G; p.H193R; 17:7674953-7674953 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.522delG; p.R174fs*73; 17:7675090-7675090 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.797G>T; p.G266V; 17:7673823-7673823 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.375G>C; p.T125T; 17:7675994-7675994 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.797G>T; p.G266V; 17:7673823-7673823 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.578A>G; p.H193R; 17:7674953-7674953 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.592G>A; p.E198K; 17:7674939-7674939 |
soft_tissue | small_round_cell_tumour | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.880G>T; p.E294*; 17:7673740-7673740 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Nonsense |
c.578A>G; p.H193R; 17:7674953-7674953 |
breast | carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.697C>G; p.H233D; 17:7674266-7674266 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1027G>T; p.E343*; 17:7670682-7670682 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.797G>T; p.G266V; 17:7673823-7673823 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.830G>C; p.C277S; 17:7673790-7673790 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.913_915AAG>TAA; p.K305*; 17:7673705-7673707 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.745A>G; p.R249G; 17:7674218-7674218 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.688A>C; p.T230P; 17:7674275-7674275 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.714_715insN; p.N239fs*25; 17:7674248-7674249 |
oesophagus | carcinoma | Insertion - Frameshift |
c.797G>T; p.G266V; 17:7673823-7673823 |
lung | carcinoma; pleomorphic_carcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.745A>G; p.R249G; 17:7674218-7674218 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.714_715insN; p.N239fs*25; 17:7674248-7674249 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.578A>G; p.H193R; 17:7674953-7674953 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.745A>G; p.R249G; 17:7674218-7674218 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
oesophagus | carcinoma | Substitution - Nonsense |
c.714_715insN; p.N239fs*25; 17:7674248-7674249 |
lung | carcinoma; non_small_cell_carcinoma | Insertion - Frameshift |
c.444_445insN; p.S149fs*32; 17:7675167-7675168 |
breast | carcinoma | Insertion - Frameshift |
c.578A>G; p.H193R; 17:7674953-7674953 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.375G>C; p.T125T; 17:7675994-7675994 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.444_445insN; p.S149fs*32; 17:7675167-7675168 |
breast | carcinoma | Insertion - Frameshift |
c.375G>C; p.T125T; 17:7675994-7675994 |
breast | carcinoma | Substitution - coding silent |
c.560-6T>G; p.?; 17:7674977-7674977 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.578A>G; p.H193R; 17:7674953-7674953 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.741C>T; p.N247N; 17:7674222-7674222 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - coding silent |
c.745A>G; p.R249G; 17:7674218-7674218 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
breast | carcinoma | Substitution - Missense |
c.741C>T; p.N247N; 17:7674222-7674222 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.745A>G; p.R249G; 17:7674218-7674218 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Substitution - Missense |
c.745A>G; p.R249G; 17:7674218-7674218 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.741C>T; p.N247N; 17:7674222-7674222 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.880G>T; p.E294*; 17:7673740-7673740 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.880G>T; p.E294*; 17:7673740-7673740 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.880G>T; p.E294*; 17:7673740-7673740 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.578A>G; p.H193R; 17:7674953-7674953 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.444_445insN; p.S149fs*32; 17:7675167-7675168 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.880G>T; p.E294*; 17:7673740-7673740 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.590T>C; p.V197A; 17:7674941-7674941 |
lung | other; pneumocytoma_(sclerosing_haemangioma) | Substitution - Missense |
c.915G>T; p.K305N; 17:7673705-7673705 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.745A>G; p.R249G; 17:7674218-7674218 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.783-2A>G; p.?; 17:7673839-7673839 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.578A>G; p.H193R; 17:7674953-7674953 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.688A>C; p.T230P; 17:7674275-7674275 |
bone; pelvis | chondrosarcoma | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.592G>A; p.E198K; 17:7674939-7674939 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.714_715insN; p.N239fs*25; 17:7674248-7674249 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.797G>T; p.G266V; 17:7673823-7673823 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.745A>G; p.R249G; 17:7674218-7674218 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.745A>G; p.R249G; 17:7674218-7674218 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
ovary | carcinoma | Substitution - Missense |
c.714_715insN; p.N239fs*25; 17:7674248-7674249 |
oesophagus | carcinoma | Insertion - Frameshift |
c.880G>T; p.E294*; 17:7673740-7673740 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.745A>G; p.R249G; 17:7674218-7674218 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.578A>G; p.H193R; 17:7674953-7674953 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.714_715insN; p.N239fs*25; 17:7674248-7674249 |
central_nervous_system; temporal_lobe | primitive_neuroectodermal_tumour-medulloblastoma | Insertion - Frameshift |
c.578A>G; p.H193R; 17:7674953-7674953 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1027G>T; p.E343*; 17:7670682-7670682 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.276C>T; p.P92P; 17:7676093-7676093 |
pancreas | carcinoma | Substitution - coding silent |
c.880G>T; p.E294*; 17:7673740-7673740 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.745A>G; p.R249G; 17:7674218-7674218 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.745A>G; p.R249G; 17:7674218-7674218 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
ovary | carcinoma | Substitution - Nonsense |
c.741C>T; p.N247N; 17:7674222-7674222 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.714_715insN; p.N239fs*25; 17:7674248-7674249 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Insertion - Frameshift |
c.578A>G; p.H193R; 17:7674953-7674953 |
ovary | other; neoplasm | Substitution - Missense |
c.745A>G; p.R249G; 17:7674218-7674218 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
breast | carcinoma | Substitution - Missense |
c.105G>C; p.L35F; 17:7676264-7676264 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.915G>T; p.K305N; 17:7673705-7673705 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.714_715insN; p.N239fs*25; 17:7674248-7674249 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Insertion - Frameshift |
c.880G>T; p.E294*; 17:7673740-7673740 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.578A>G; p.H193R; 17:7674953-7674953 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.578A>G; p.H193R; 17:7674953-7674953 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
breast | carcinoma | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
breast | carcinoma | Substitution - Missense |
c.522delG; p.R174fs*73; 17:7675090-7675090 |
oesophagus | carcinoma | Deletion - Frameshift |
c.880G>T; p.E294*; 17:7673740-7673740 |
soft_tissue | sarcoma | Substitution - Nonsense |
c.745A>G; p.R249G; 17:7674218-7674218 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
lung | carcinoma; pleomorphic_carcinoma | Substitution - Missense |
c.745A>G; p.R249G; 17:7674218-7674218 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.578A>G; p.H193R; 17:7674953-7674953 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.797G>T; p.G266V; 17:7673823-7673823 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.578A>G; p.H193R; 17:7674953-7674953 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.592G>A; p.E198K; 17:7674939-7674939 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
lung | carcinoma; large_cell_carcinoma | Substitution - Nonsense |
c.913_915AAG>TAA; p.K305*; 17:7673705-7673707 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.880G>T; p.E294*; 17:7673740-7673740 |
oesophagus | carcinoma | Substitution - Nonsense |
c.97-2A>G; p.?; 17:7676274-7676274 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.797G>T; p.G266V; 17:7673823-7673823 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
breast | carcinoma | Substitution - Nonsense |
c.578A>G; p.H193R; 17:7674953-7674953 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.797G>T; p.G266V; 17:7673823-7673823 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.741C>T; p.N247N; 17:7674222-7674222 |
stomach | carcinoma | Substitution - coding silent |
c.578A>G; p.H193R; 17:7674953-7674953 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.714_715insN; p.N239fs*25; 17:7674248-7674249 |
lung | carcinoma; non_small_cell_carcinoma | Insertion - Frameshift |
c.741C>T; p.N247N; 17:7674222-7674222 |
breast | carcinoma | Substitution - coding silent |
c.797G>T; p.G266V; 17:7673823-7673823 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.578A>G; p.H193R; 17:7674953-7674953 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.745A>G; p.R249G; 17:7674218-7674218 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.697C>G; p.H233D; 17:7674266-7674266 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1027G>T; p.E343*; 17:7670682-7670682 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.797G>T; p.G266V; 17:7673823-7673823 |
pancreas | carcinoma | Substitution - Missense |
c.1027G>T; p.E343*; 17:7670682-7670682 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.880G>T; p.E294*; 17:7673740-7673740 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.797G>T; p.G266V; 17:7673823-7673823 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
breast | carcinoma | Substitution - Missense |
c.268_325del58; p.W91fs*13; 17:7676044-7676101 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.578A>G; p.H193R; 17:7674953-7674953 |
lung; right_upper_lobe | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.578A>G; p.H193R; 17:7674953-7674953 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.797G>T; p.G266V; 17:7673823-7673823 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
breast | carcinoma | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
pancreas | carcinoma | Substitution - Nonsense |
c.745A>G; p.R249G; 17:7674218-7674218 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
central_nervous_system; thalamus | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1027G>T; p.E343*; 17:7670682-7670682 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.880G>T; p.E294*; 17:7673740-7673740 |
ovary | other; neoplasm | Substitution - Nonsense |
c.578A>G; p.H193R; 17:7674953-7674953 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.745A>G; p.R249G; 17:7674218-7674218 |
breast | carcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1027G>T; p.E343*; 17:7670682-7670682 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.880G>T; p.E294*; 17:7673740-7673740 |
pancreas | carcinoma | Substitution - Nonsense |
c.1027G>T; p.E343*; 17:7670682-7670682 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.880G>T; p.E294*; 17:7673740-7673740 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.880G>T; p.E294*; 17:7673740-7673740 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.797G>T; p.G266V; 17:7673823-7673823 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
breast | carcinoma | Substitution - Missense |
c.375G>C; p.T125T; 17:7675994-7675994 |
breast | carcinoma | Substitution - coding silent |
c.745A>G; p.R249G; 17:7674218-7674218 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.578A>G; p.H193R; 17:7674953-7674953 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
breast | carcinoma | Substitution - Nonsense |
c.797G>T; p.G266V; 17:7673823-7673823 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
ovary | other; neoplasm | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
ovary | carcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.797G>T; p.G266V; 17:7673823-7673823 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.741C>T; p.N247N; 17:7674222-7674222 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.745A>G; p.R249G; 17:7674218-7674218 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.745A>G; p.R249G; 17:7674218-7674218 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.745A>G; p.R249G; 17:7674218-7674218 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.741C>T; p.N247N; 17:7674222-7674222 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.880G>T; p.E294*; 17:7673740-7673740 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Nonsense |
c.741C>T; p.N247N; 17:7674222-7674222 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.578A>G; p.H193R; 17:7674953-7674953 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.745A>G; p.R249G; 17:7674218-7674218 |
breast | carcinoma | Substitution - Missense |
c.375_375+10delGGCAACTGACC; p.?; 17:7675984-7675994 |
pancreas | NS | Unknown |
c.745A>G; p.R249G; 17:7674218-7674218 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.714_715insN; p.N239fs*25; 17:7674248-7674249 |
lung | carcinoma; non_small_cell_carcinoma | Insertion - Frameshift |
c.630_631delCA; p.T211fs*4; 17:7674900-7674901 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.578A>G; p.H193R; 17:7674953-7674953 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
ovary | carcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:7673740-7673740 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.745A>G; p.R249G; 17:7674218-7674218 |
ovary | other; neoplasm | Substitution - Missense |
c.1027G>T; p.E343*; 17:7670682-7670682 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.797G>T; p.G266V; 17:7673823-7673823 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.745A>G; p.R249G; 17:7674218-7674218 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.783-2A>G; p.?; 17:7673839-7673839 |
lung | carcinoma; adenocarcinoma | Unknown |
c.880G>T; p.E294*; 17:7673740-7673740 |
ovary | carcinoma | Substitution - Nonsense |
c.578A>G; p.H193R; 17:7674953-7674953 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578A>G; p.H193R; 17:7674953-7674953 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.797G>T; p.G266V; 17:7673823-7673823 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.745A>G; p.R249G; 17:7674218-7674218 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.731G>C; p.G244A; 17:7674232-7674232 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.783-8_920-27del211; p.?; 17:7673635-7673845 |
urinary_tract; bladder | carcinoma | Unknown |
c.783-8_920-27del211; p.?; 17:7673635-7673845 |
urinary_tract; bladder | carcinoma | Unknown |
c.537T>G; p.H179Q; 17:7675075-7675075 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.608T>A; p.V203E; 17:7674923-7674923 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.550_551insN; p.D184fs*2; 17:7675061-7675062 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Insertion - Frameshift |
c.86_87insA; p.N29fs*14; 17:7676391-7676392 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.480G>T; p.M160I; 17:7675132-7675132 |
liver | carcinoma | Substitution - Missense |
c.710T>A; p.M237K; 17:7674253-7674253 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.339C>G; p.F113L; 17:7676030-7676030 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.760A>T; p.I254F; 17:7674203-7674203 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.760A>T; p.I254F; 17:7674203-7674203 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.731G>C; p.G244A; 17:7674232-7674232 |
prostate | carcinoma | Substitution - Missense |
c.378C>TT; p.S127fs*22; 17:7675234-7675234 |
lung | carcinoma | Complex - frameshift |
c.537T>G; p.H179Q; 17:7675075-7675075 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.795_796GG>AA; p.G266R; 17:7673824-7673825 |
skin | malignant_melanoma | Substitution - Missense |
c.760A>T; p.I254F; 17:7674203-7674203 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.1143delA; p.K382fs*>12; 17:7669648-7669648 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.717C>A; p.N239K; 17:7674246-7674246 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.783-8_920-27del211; p.?; 17:7673635-7673845 |
urinary_tract; bladder | carcinoma | Unknown |
c.783-8_920-27del211; p.?; 17:7673635-7673845 |
urinary_tract; bladder | carcinoma | Unknown |
c.608T>A; p.V203E; 17:7674923-7674923 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.842_846ACCGG>N; p.D281fs*63; 17:7673774-7673778 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Complex - frameshift |
c.608T>A; p.V203E; 17:7674923-7674923 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.339C>G; p.F113L; 17:7676030-7676030 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.200C>G; p.P67R; 17:7676169-7676169 |
stomach | carcinoma | Substitution - Missense |
c.608T>A; p.V203E; 17:7674923-7674923 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.731G>C; p.G244A; 17:7674232-7674232 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.710T>A; p.M237K; 17:7674253-7674253 |
breast | carcinoma | Substitution - Missense |
c.537T>G; p.H179Q; 17:7675075-7675075 |
pancreas | carcinoma | Substitution - Missense |
c.983delT; p.F328fs*17; 17:7673545-7673545 |
breast | carcinoma | Deletion - Frameshift |
c.710T>A; p.M237K; 17:7674253-7674253 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.760A>T; p.I254F; 17:7674203-7674203 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.673-29_673-6del24; p.?; 17:7674296-7674319 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.537T>G; p.H179Q; 17:7675075-7675075 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.454delC; p.P152fs*18; 17:7675158-7675158 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.537T>G; p.H179Q; 17:7675075-7675075 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.886_909del24; p.H296_S303delHHELPPGS; 17:7673711-7673734 |
bone | osteosarcoma | Deletion - In frame |
c.457_473del17; p.P153fs*22; 17:7675139-7675155 |
stomach | carcinoma; tubular_adenocarcinoma | Deletion - Frameshift |
c.719G>C; p.S240T; 17:7674244-7674244 |
central_nervous_system; brain | glioma; oligodendroglioma | Substitution - Missense |
c.611A>G; p.E204G; 17:7674920-7674920 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.710T>A; p.M237K; 17:7674253-7674253 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.717C>A; p.N239K; 17:7674246-7674246 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.710T>A; p.M237K; 17:7674253-7674253 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.480G>T; p.M160I; 17:7675132-7675132 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.480G>T; p.M160I; 17:7675132-7675132 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.731G>C; p.G244A; 17:7674232-7674232 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.611A>G; p.E204G; 17:7674920-7674920 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.817_818delCG; p.R273fs*32; 17:7673802-7673803 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.608T>A; p.V203E; 17:7674923-7674923 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.608T>A; p.V203E; 17:7674923-7674923 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.543C>T; p.R181R; 17:7675069-7675069 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.734_735GC>AA; p.G245E; 17:7674228-7674229 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.842_846ACCGG>N; p.D281fs*63; 17:7673774-7673778 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Complex - frameshift |
c.480G>T; p.M160I; 17:7675132-7675132 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.710T>A; p.M237K; 17:7674253-7674253 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.611A>G; p.E204G; 17:7674920-7674920 |
soft_tissue; striated_muscle | rhabdomyosarcoma; alveolar | Substitution - Missense |
c.339C>G; p.F113L; 17:7676030-7676030 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.537T>G; p.H179Q; 17:7675075-7675075 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.454delC; p.P152fs*18; 17:7675158-7675158 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Deletion - Frameshift |
c.710T>A; p.M237K; 17:7674253-7674253 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.692_694delCCA; p.T231delT; 17:7674269-7674271 |
lung | carcinoma; adenocarcinoma | Deletion - In frame |
c.731G>C; p.G244A; 17:7674232-7674232 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.537T>G; p.H179Q; 17:7675075-7675075 |
breast | carcinoma | Substitution - Missense |
c.731G>C; p.G244A; 17:7674232-7674232 |
lung | other; pneumocytoma_(sclerosing_haemangioma) | Substitution - Missense |
c.101C>T; p.P34L; 17:7676268-7676268 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.731G>C; p.G244A; 17:7674232-7674232 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.760A>T; p.I254F; 17:7674203-7674203 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.516T>G; p.V172V; 17:7675096-7675096 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.710T>A; p.M237K; 17:7674253-7674253 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.457_473del17; p.P153fs*22; 17:7675139-7675155 |
stomach | carcinoma; tubular_adenocarcinoma | Deletion - Frameshift |
c.719G>C; p.S240T; 17:7674244-7674244 |
ovary | carcinoma | Substitution - Missense |
c.543C>T; p.R181R; 17:7675069-7675069 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.717C>A; p.N239K; 17:7674246-7674246 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.602T>C; p.L201S; 17:7674929-7674929 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.520delA; p.R174fs*73; 17:7675092-7675092 |
stomach | carcinoma | Deletion - Frameshift |
c.710T>A; p.M237K; 17:7674253-7674253 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.710T>A; p.M237K; 17:7674253-7674253 |
breast | carcinoma | Substitution - Missense |
c.760A>T; p.I254F; 17:7674203-7674203 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.537T>G; p.H179Q; 17:7675075-7675075 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.537T>G; p.H179Q; 17:7675075-7675075 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.537T>G; p.H179Q; 17:7675075-7675075 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.454delC; p.P152fs*18; 17:7675158-7675158 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.101C>T; p.P34L; 17:7676268-7676268 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.731G>C; p.G244A; 17:7674232-7674232 |
salivary_gland; parotid | carcinoma | Substitution - Missense |
c.760A>T; p.I254F; 17:7674203-7674203 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.339C>G; p.F113L; 17:7676030-7676030 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.708C>A; p.Y236*; 17:7674255-7674255 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.735C>T; p.G245G; 17:7674228-7674228 |
breast | carcinoma | Substitution - coding silent |
c.528C>A; p.C176*; 17:7675084-7675084 |
breast | carcinoma | Substitution - Nonsense |
c.901C>A; p.P301T; 17:7673719-7673719 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.993+2T>C; p.?; 17:7673533-7673533 |
liver | carcinoma | Unknown |
c.528C>A; p.C176*; 17:7675084-7675084 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.632C>T; p.T211I; 17:7674899-7674899 |
pancreas | carcinoma | Substitution - Missense |
c.528C>A; p.C176*; 17:7675084-7675084 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.993+2T>C; p.?; 17:7673533-7673533 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.550G>A; p.D184N; 17:7675062-7675062 |
breast | carcinoma | Substitution - Missense |
c.902_903insN; p.G302fs*4; 17:7673717-7673718 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Insertion - Frameshift |
c.632C>T; p.T211I; 17:7674899-7674899 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.498_499insA; p.Q167fs*14; 17:7675113-7675114 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.528C>A; p.C176*; 17:7675084-7675084 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.592_593insN; p.E198fs*11; 17:7674938-7674939 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.519_520insN; p.R174fs*7; 17:7675092-7675093 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.632C>T; p.T211I; 17:7674899-7674899 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.550G>A; p.D184N; 17:7675062-7675062 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.752T>A; p.I251N; 17:7674211-7674211 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.550G>A; p.D184N; 17:7675062-7675062 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.797delG; p.G266fs*79; 17:7673823-7673823 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.708C>A; p.Y236*; 17:7674255-7674255 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.632C>T; p.T211I; 17:7674899-7674899 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.602T>A; p.L201*; 17:7674929-7674929 |
liver | carcinoma | Substitution - Nonsense |
c.632C>T; p.T211I; 17:7674899-7674899 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.708C>A; p.Y236*; 17:7674255-7674255 |
pancreas | carcinoma | Substitution - Nonsense |
c.752T>A; p.I251N; 17:7674211-7674211 |
breast | carcinoma | Substitution - Missense |
c.550G>A; p.D184N; 17:7675062-7675062 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.752T>A; p.I251N; 17:7674211-7674211 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.563T>C; p.L188P; 17:7674968-7674968 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.632C>T; p.T211I; 17:7674899-7674899 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.632C>T; p.T211I; 17:7674899-7674899 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.169_228del60; p.D57_A76del20; 17:7676141-7676200 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Deletion - In frame |
c.254C>A; p.P85H; 17:7676115-7676115 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.752T>A; p.I251N; 17:7674211-7674211 |
prostate | carcinoma | Substitution - Missense |
c.708C>A; p.Y236*; 17:7674255-7674255 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.632C>T; p.T211I; 17:7674899-7674899 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.735C>T; p.G245G; 17:7674228-7674228 |
liver | carcinoma | Substitution - coding silent |
c.708C>A; p.Y236*; 17:7674255-7674255 |
liver | carcinoma | Substitution - Nonsense |
c.550G>A; p.D184N; 17:7675062-7675062 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.528C>A; p.C176*; 17:7675084-7675084 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.528C>A; p.C176*; 17:7675084-7675084 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.632C>T; p.T211I; 17:7674899-7674899 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.708C>A; p.Y236*; 17:7674255-7674255 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.550G>A; p.D184N; 17:7675062-7675062 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.440_441TT>AA; p.V147E; 17:7675171-7675172 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.708C>A; p.Y236*; 17:7674255-7674255 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.708C>A; p.Y236*; 17:7674255-7674255 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.632C>T; p.T211I; 17:7674899-7674899 |
central_nervous_system; brain | glioma; oligoastrocytoma | Substitution - Missense |
c.708C>A; p.Y236*; 17:7674255-7674255 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.528C>A; p.C176*; 17:7675084-7675084 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.550G>A; p.D184N; 17:7675062-7675062 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.993+2T>C; p.?; 17:7673533-7673533 |
haematopoietic_and_lymphoid_tissue; abdomen | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Unknown |
c.735C>T; p.G245G; 17:7674228-7674228 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.550G>A; p.D184N; 17:7675062-7675062 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.550G>A; p.D184N; 17:7675062-7675062 |
oesophagus | other; dysplasia | Substitution - Missense |
c.752T>A; p.I251N; 17:7674211-7674211 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.735C>T; p.G245G; 17:7674228-7674228 |
upper_aerodigestive_tract; mouth | other; leukoplakia-hyperplakia-erythroplakia | Substitution - coding silent |
c.528C>A; p.C176*; 17:7675084-7675084 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.136_147del12; p.S46_D49delSPDD; 17:7676222-7676233 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.528C>A; p.C176*; 17:7675084-7675084 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Nonsense |
c.735C>T; p.G245G; 17:7674228-7674228 |
liver | carcinoma | Substitution - coding silent |
c.632C>T; p.T211I; 17:7674899-7674899 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.902_903insN; p.G302fs*4; 17:7673717-7673718 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.752T>A; p.I251N; 17:7674211-7674211 |
skin | malignant_melanoma | Substitution - Missense |
c.559_560insN; p.G187fs*22; 17:7674971-7675053 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Insertion - Frameshift |
c.632C>T; p.T211I; 17:7674899-7674899 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.993+2T>C; p.?; 17:7673533-7673533 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.797delG; p.G266fs*79; 17:7673823-7673823 |
oesophagus | carcinoma | Deletion - Frameshift |
c.632C>T; p.T211I; 17:7674899-7674899 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.752T>A; p.I251N; 17:7674211-7674211 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.753_754insNNN; p.I251_L252insX; 17:7674209-7674210 |
large_intestine | carcinoma; adenocarcinoma | Insertion - In frame |
c.528C>A; p.C176*; 17:7675084-7675084 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.752T>A; p.I251N; 17:7674211-7674211 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.550G>A; p.D184N; 17:7675062-7675062 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.708C>A; p.Y236*; 17:7674255-7674255 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.797delG; p.G266fs*79; 17:7673823-7673823 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.993+2T>C; p.?; 17:7673533-7673533 |
stomach | carcinoma | Unknown |
c.486_487insN; p.Y163fs*18; 17:7675125-7675126 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.550G>A; p.D184N; 17:7675062-7675062 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.550G>A; p.D184N; 17:7675062-7675062 |
prostate | carcinoma | Substitution - Missense |
c.708C>A; p.Y236*; 17:7674255-7674255 |
liver | carcinoma | Substitution - Nonsense |
c.550G>A; p.D184N; 17:7675062-7675062 |
prostate | carcinoma | Substitution - Missense |
c.902_903insN; p.G302fs*4; 17:7673717-7673718 |
ovary | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.528C>A; p.C176*; 17:7675084-7675084 |
pancreas | carcinoma | Substitution - Nonsense |
c.550G>A; p.D184N; 17:7675062-7675062 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733_735delGGC; p.G245delG; 17:7674228-7674230 |
breast | carcinoma | Deletion - In frame |
c.463_464delAC; p.T155fs*25; 17:7675148-7675149 |
breast | carcinoma | Deletion - Frameshift |
c.993+2T>C; p.?; 17:7673533-7673533 |
central_nervous_system; medulla | primitive_neuroectodermal_tumour-medulloblastoma; desmoplastic | Unknown |
c.385_396del12; p.A129_K132delALNK; 17:7675216-7675227 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Deletion - In frame |
c.536delA; p.H179fs*68; 17:7675076-7675076 |
ovary | carcinoma; mucinous_carcinoma | Deletion - Frameshift |
c.592_593insN; p.E198fs*11; 17:7674938-7674939 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.752T>A; p.I251N; 17:7674211-7674211 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.602T>A; p.L201*; 17:7674929-7674929 |
breast | carcinoma | Substitution - Nonsense |
c.786_787insNNNNN; p.N263fs*84; 17:7673833-7673834 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.992_993insN; p.Q331fs*6; 17:7673535-7673536 |
skin | malignant_melanoma | Insertion - Frameshift |
c.632C>T; p.T211I; 17:7674899-7674899 |
skin; face | other; hyperplasia | Substitution - Missense |
c.993+2T>C; p.?; 17:7673533-7673533 |
lung | carcinoma; adenocarcinoma | Unknown |
c.601_602TT>CC; p.L201P; 17:7674929-7674930 |
breast | carcinoma | Substitution - Missense |
c.877delG; p.E294fs*51; 17:7673743-7673743 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - Frameshift |
c.522G>T; p.R174S; 17:7675090-7675090 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.548C>A; p.S183*; 17:7675064-7675064 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.548C>A; p.S183*; 17:7675064-7675064 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.548C>A; p.S183*; 17:7675064-7675064 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.548C>A; p.S183*; 17:7675064-7675064 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.941C>T; p.S314F; 17:7673587-7673587 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.875A>G; p.K292R; 17:7673745-7673745 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.415_416delAA; p.K139fs*9; 17:7675196-7675197 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.846_847insNN; p.R283fs*63; 17:7673773-7673774 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.238_244delCCTACAC; p.P80fs*41; 17:7676125-7676131 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.461G>A; p.G154D; 17:7675151-7675151 |
breast | carcinoma | Substitution - Missense |
c.228A>T; p.A76A; 17:7676141-7676141 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.510G>A; p.T170T; 17:7675102-7675102 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.877delG; p.E294fs*51; 17:7673743-7673743 |
ovary | carcinoma | Deletion - Frameshift |
c.722C>A; p.S241Y; 17:7674241-7674241 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.79C>T; p.P27S; 17:7676399-7676399 |
skin; abdomen | malignant_melanoma | Substitution - Missense |
c.451_519del69; p.P151_V173del23; 17:7675093-7675161 |
stomach | carcinoma; adenocarcinoma | Deletion - In frame |
c.722C>A; p.S241Y; 17:7674241-7674241 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.875A>G; p.K292R; 17:7673745-7673745 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.722C>A; p.S241Y; 17:7674241-7674241 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.79C>T; p.P27S; 17:7676399-7676399 |
skin | malignant_melanoma | Substitution - Missense |
c.757_760delACCA; p.T253fs*91; 17:7674203-7674206 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.370delT; p.C124fs*46; 17:7675999-7675999 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.823_849del27; p.C275_R283delCACPGRDRR; 17:7673771-7673797 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Deletion - In frame |
c.812A>T; p.E271V; 17:7673808-7673808 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.858A>G; p.E286E; 17:7673762-7673762 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.722C>A; p.S241Y; 17:7674241-7674241 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>A; p.S241Y; 17:7674241-7674241 |
oesophagus | other; oesophagitis | Substitution - Missense |
c.877delG; p.E294fs*51; 17:7673743-7673743 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.461G>A; p.G154D; 17:7675151-7675151 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.561_562insN; p.L188fs*21; 17:7674969-7674970 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.931A>C; p.N311H; 17:7673597-7673597 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.370delT; p.C124fs*46; 17:7675999-7675999 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.1082G>A; p.G361E; 17:7670627-7670627 |
skin | malignant_melanoma | Substitution - Missense |
c.628_634delAACACTT; p.N210fs*35; 17:7674897-7674903 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Deletion - Frameshift |
c.736delA; p.M246fs*1; 17:7674227-7674227 |
breast | carcinoma | Deletion - Frameshift |
c.875A>G; p.K292R; 17:7673745-7673745 |
thyroid | carcinoma; follicular_carcinoma | Substitution - Missense |
c.461G>A; p.G154D; 17:7675151-7675151 |
pancreas | other; normal | Substitution - Missense |
c.722C>A; p.S241Y; 17:7674241-7674241 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.722C>A; p.S241Y; 17:7674241-7674241 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.510G>A; p.T170T; 17:7675102-7675102 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.510G>A; p.T170T; 17:7675102-7675102 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.757_760delACCA; p.T253fs*91; 17:7674203-7674206 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.736delA; p.M246fs*1; 17:7674227-7674227 |
stomach | carcinoma; diffuse_adenocarcinoma | Deletion - Frameshift |
c.812A>T; p.E271V; 17:7673808-7673808 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.548C>A; p.S183*; 17:7675064-7675064 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.415_416delAA; p.K139fs*9; 17:7675196-7675197 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.481_487delGCCATCT; p.A161fs*7; 17:7675125-7675131 |
lung | carcinoma | Deletion - Frameshift |
c.722C>A; p.S241Y; 17:7674241-7674241 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>A; p.S241Y; 17:7674241-7674241 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.722C>A; p.S241Y; 17:7674241-7674241 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.798A>G; p.G266G; 17:7673822-7673822 |
stomach | carcinoma; signet_ring_adenocarcinoma | Substitution - coding silent |
c.812A>T; p.E271V; 17:7673808-7673808 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.426_427insNNNNN; p.V143fs*29; 17:7675185-7675186 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.812A>T; p.E271V; 17:7673808-7673808 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.812A>T; p.E271V; 17:7673808-7673808 |
liver | carcinoma | Substitution - Missense |
c.858A>G; p.E286E; 17:7673762-7673762 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.722C>A; p.S241Y; 17:7674241-7674241 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>A; p.S241Y; 17:7674241-7674241 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.846_847insNN; p.R283fs*63; 17:7673773-7673774 |
oesophagus | carcinoma | Insertion - Frameshift |
c.812A>T; p.E271V; 17:7673808-7673808 |
liver | carcinoma | Substitution - Missense |
c.722C>A; p.S241Y; 17:7674241-7674241 |
kidney | other; neoplasm | Substitution - Missense |
c.548C>A; p.S183*; 17:7675064-7675064 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.548C>A; p.S183*; 17:7675064-7675064 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.687T>C; p.C229C; 17:7674276-7674276 |
thymus | thymoma | Substitution - coding silent |
c.510G>A; p.T170T; 17:7675102-7675102 |
ovary | other; neoplasm | Substitution - coding silent |
c.370delT; p.C124fs*46; 17:7675999-7675999 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.792_793insNN; p.L265fs*81; 17:7673827-7673828 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.522G>T; p.R174S; 17:7675090-7675090 |
liver | carcinoma | Substitution - Missense |
c.722C>A; p.S241Y; 17:7674241-7674241 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.812A>T; p.E271V; 17:7673808-7673808 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.386C>T; p.A129V; 17:7675226-7675226 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.722C>A; p.S241Y; 17:7674241-7674241 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>A; p.S241Y; 17:7674241-7674241 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.875A>G; p.K292R; 17:7673745-7673745 |
stomach | carcinoma | Substitution - Missense |
c.722C>A; p.S241Y; 17:7674241-7674241 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.548C>A; p.S183*; 17:7675064-7675064 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.392A>C; p.N131T; 17:7675220-7675220 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.722C>A; p.S241Y; 17:7674241-7674241 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.510G>A; p.T170T; 17:7675102-7675102 |
breast | carcinoma | Substitution - coding silent |
c.461G>A; p.G154D; 17:7675151-7675151 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.386C>T; p.A129V; 17:7675226-7675226 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.875A>G; p.K292R; 17:7673745-7673745 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.461G>A; p.G154D; 17:7675151-7675151 |
prostate | in_situ_neoplasm; glandular_intraepithelial_neoplasia_Grade_III | Substitution - Missense |
c.722C>A; p.S241Y; 17:7674241-7674241 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.510G>A; p.T170T; 17:7675102-7675102 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.461G>A; p.G154D; 17:7675151-7675151 |
breast | carcinoma | Substitution - Missense |
c.920-6_920-5insN; p.?; 17:7673613-7673614 |
salivary_gland; major | carcinoma; ex-pleomorphic_adenoma_carcinoma | Unknown |
c.812A>T; p.E271V; 17:7673808-7673808 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.858A>G; p.E286E; 17:7673762-7673762 |
pancreas | carcinoma | Substitution - coding silent |
c.722C>A; p.S241Y; 17:7674241-7674241 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.472delC; p.R158fs*12; 17:7675140-7675140 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.961A>T; p.K321*; 17:7673567-7673567 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.472delC; p.R158fs*12; 17:7675140-7675140 |
breast | carcinoma | Deletion - Frameshift |
c.568_569CC>TT; p.P190F; 17:7674962-7674963 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.685_686delTG; p.C229fs*10; 17:7674277-7674278 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.599delA; p.N200fs*47; 17:7674932-7674932 |
skin | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.716A>G; p.N239S; 17:7674247-7674247 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.716A>G; p.N239S; 17:7674247-7674247 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.716A>G; p.N239S; 17:7674247-7674247 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.716A>G; p.N239S; 17:7674247-7674247 |
breast | carcinoma | Substitution - Missense |
c.716A>G; p.N239S; 17:7674247-7674247 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.716A>G; p.N239S; 17:7674247-7674247 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.716A>G; p.N239S; 17:7674247-7674247 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.723C>T; p.S241S; 17:7674240-7674240 |
ovary | carcinoma | Substitution - coding silent |
c.961A>T; p.K321*; 17:7673567-7673567 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.685_686delTG; p.C229fs*10; 17:7674277-7674278 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.716A>G; p.N239S; 17:7674247-7674247 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.685_686delTG; p.C229fs*10; 17:7674277-7674278 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.557A>G; p.D186G; 17:7675055-7675055 |
stomach | adenocarcinoma | Substitution - Missense |
c.557A>G; p.D186G; 17:7675055-7675055 |
stomach | adenocarcinoma | Substitution - Missense |
c.716A>G; p.N239S; 17:7674247-7674247 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.263delC; p.S90fs*33; 17:7676106-7676106 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.488A>C; p.Y163S; 17:7675124-7675124 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Substitution - Missense |
c.961A>T; p.K321*; 17:7673567-7673567 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour | Substitution - Nonsense |
c.507_508insNN; p.T170fs*5; 17:7675104-7675105 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.716A>G; p.N239S; 17:7674247-7674247 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.378C>G; p.Y126*; 17:7675234-7675234 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.685_686delTG; p.C229fs*10; 17:7674277-7674278 |
skin | malignant_melanoma | Deletion - Frameshift |
c.488A>C; p.Y163S; 17:7675124-7675124 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.882G>A; p.E294E; 17:7673738-7673738 |
skin | malignant_melanoma; nodular | Substitution - coding silent |
c.716A>G; p.N239S; 17:7674247-7674247 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.599delA; p.N200fs*47; 17:7674932-7674932 |
skin | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.411_425del15; p.A138_P142delAKTCP; 17:7675187-7675201 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.472delC; p.R158fs*12; 17:7675140-7675140 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.557A>G; p.D186G; 17:7675055-7675055 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.557A>G; p.D186G; 17:7675055-7675055 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.716A>G; p.N239S; 17:7674247-7674247 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.716A>G; p.N239S; 17:7674247-7674247 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.557A>G; p.D186G; 17:7675055-7675055 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.46delC; p.Q16fs*28; 17:7676549-7676549 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.716A>G; p.N239S; 17:7674247-7674247 |
soft_tissue; fat | liposarcoma | Substitution - Missense |
c.961A>T; p.K321*; 17:7673567-7673567 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Nonsense |
c.502_503insN; p.H168fs*13; 17:7675109-7675110 |
skin | other; keloid | Insertion - Frameshift |
c.378C>G; p.Y126*; 17:7675234-7675234 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.472delC; p.R158fs*12; 17:7675140-7675140 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.378C>G; p.Y126*; 17:7675234-7675234 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Nonsense |
c.716A>G; p.N239S; 17:7674247-7674247 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.378C>G; p.Y126*; 17:7675234-7675234 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.716A>G; p.N239S; 17:7674247-7674247 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.488A>C; p.Y163S; 17:7675124-7675124 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.716A>G; p.N239S; 17:7674247-7674247 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.716A>G; p.N239S; 17:7674247-7674247 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.716A>G; p.N239S; 17:7674247-7674247 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.472delC; p.R158fs*12; 17:7675140-7675140 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.568_569CC>TT; p.P190F; 17:7674962-7674963 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.716A>G; p.N239S; 17:7674247-7674247 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.716A>G; p.N239S; 17:7674247-7674247 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.541_542ins18; p.R181>XXXXXXX; 17:7675070-7675071 |
oesophagus | carcinoma; squamous_cell_carcinoma | Complex - insertion inframe |
c.488A>C; p.Y163S; 17:7675124-7675124 |
breast | carcinoma | Substitution - Missense |
c.378C>G; p.Y126*; 17:7675234-7675234 |
oesophagus | carcinoma | Substitution - Nonsense |
c.882G>A; p.E294E; 17:7673738-7673738 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.523_540del18; p.P177_C182delPHHERC; 17:7675072-7675089 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.390_391insCCTC; p.N131fs*19; 17:7675221-7675222 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.820delG; p.V274fs*71; 17:7673800-7673800 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.1141delA; p.K382fs*>12; 17:7669650-7669650 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.488A>C; p.Y163S; 17:7675124-7675124 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.882G>A; p.E294E; 17:7673738-7673738 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - coding silent |
c.685_686delTG; p.C229fs*10; 17:7674277-7674278 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.781delA; p.S261fs*84; 17:7674182-7674182 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.882G>A; p.E294E; 17:7673738-7673738 |
oesophagus | other; normal | Substitution - coding silent |
c.811_812GA>CC; p.E271P; 17:7673808-7673809 |
salivary_gland; major | carcinoma; ex-pleomorphic_adenoma_carcinoma | Substitution - Missense |
c.716A>G; p.N239S; 17:7674247-7674247 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.472delC; p.R158fs*12; 17:7675140-7675140 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.716A>G; p.N239S; 17:7674247-7674247 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.716A>G; p.N239S; 17:7674247-7674247 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.716A>G; p.N239S; 17:7674247-7674247 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.523_540del18; p.P177_C182delPHHERC; 17:7675072-7675089 |
breast | carcinoma | Deletion - In frame |
c.832C>T; p.P278S; 17:7673788-7673788 |
breast | carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
stomach | carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.610G>A; p.E204K; 17:7674921-7674921 |
large_intestine; appendix | carcinoid-endocrine_tumour | Substitution - Missense |
c.697_698delCA; p.H233fs*6; 17:7674265-7674266 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Deletion - Frameshift |
c.1024delC; p.R342fs*3; 17:7670685-7670685 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Deletion - Frameshift |
c.832C>T; p.P278S; 17:7673788-7673788 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.401T>C; p.F134S; 17:7675211-7675211 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.610G>T; p.E204*; 17:7674921-7674921 |
breast | carcinoma | Substitution - Nonsense |
c.715A>G; p.N239D; 17:7674248-7674248 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.546C>A; p.C182*; 17:7675066-7675066 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.610G>A; p.E204K; 17:7674921-7674921 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.724T>G; p.C242G; 17:7674239-7674239 |
skin; ankle | malignant_melanoma; acral_lentiginous | Substitution - Missense |
c.1024delC; p.R342fs*3; 17:7670685-7670685 |
pleura | mesothelioma | Deletion - Frameshift |
c.715A>G; p.N239D; 17:7674248-7674248 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.389T>A; p.L130H; 17:7675223-7675223 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.793C>A; p.L265M; 17:7673827-7673827 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.610G>T; p.E204*; 17:7674921-7674921 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.832C>T; p.P278S; 17:7673788-7673788 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.610G>T; p.E204*; 17:7674921-7674921 |
ovary | carcinoma | Substitution - Nonsense |
c.610G>T; p.E204*; 17:7674921-7674921 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.832C>T; p.P278S; 17:7673788-7673788 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.610G>T; p.E204*; 17:7674921-7674921 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.389T>A; p.L130H; 17:7675223-7675223 |
ovary | other; neoplasm | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.701A>C; p.Y234S; 17:7674262-7674262 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.610G>T; p.E204*; 17:7674921-7674921 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.715A>G; p.N239D; 17:7674248-7674248 |
breast | carcinoma | Substitution - Missense |
c.401T>C; p.F134S; 17:7675211-7675211 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.610G>T; p.E204*; 17:7674921-7674921 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.715A>G; p.N239D; 17:7674248-7674248 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.546C>A; p.C182*; 17:7675066-7675066 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.610G>T; p.E204*; 17:7674921-7674921 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.832C>T; p.P278S; 17:7673788-7673788 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
breast | carcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
ovary | carcinoma | Substitution - Missense |
c.829T>G; p.C277G; 17:7673791-7673791 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.610G>T; p.E204*; 17:7674921-7674921 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.610G>T; p.E204*; 17:7674921-7674921 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.401T>C; p.F134S; 17:7675211-7675211 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.834delT; p.R280fs*65; 17:7673786-7673786 |
ovary | germ_cell_tumour; teratoma | Deletion - Frameshift |
c.715A>G; p.N239D; 17:7674248-7674248 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
breast | carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.479delT; p.M160fs*10; 17:7675133-7675133 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.673-2A>T; p.?; 17:7674292-7674292 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.546C>A; p.C182*; 17:7675066-7675066 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.610G>T; p.E204*; 17:7674921-7674921 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.724T>G; p.C242G; 17:7674239-7674239 |
breast | carcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - Missense |
c.401T>C; p.F134S; 17:7675211-7675211 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.610G>T; p.E204*; 17:7674921-7674921 |
ovary | other; neoplasm | Substitution - Nonsense |
c.715A>G; p.N239D; 17:7674248-7674248 |
breast | carcinoma | Substitution - Missense |
c.610G>T; p.E204*; 17:7674921-7674921 |
breast | carcinoma | Substitution - Nonsense |
c.724T>G; p.C242G; 17:7674239-7674239 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
fallopian_tube | carcinoma; serous_carcinoma | Substitution - Missense |
c.546C>A; p.C182*; 17:7675066-7675066 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.610G>T; p.E204*; 17:7674921-7674921 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.701A>C; p.Y234S; 17:7674262-7674262 |
ovary | carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
breast | carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.829T>G; p.C277G; 17:7673791-7673791 |
skin; arm | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm | Substitution - Missense |
c.610G>T; p.E204*; 17:7674921-7674921 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.832C>T; p.P278S; 17:7673788-7673788 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.617_618insNNNNN; p.L206fs*43; 17:7674913-7674914 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.610G>T; p.E204*; 17:7674921-7674921 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.715A>G; p.N239D; 17:7674248-7674248 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.724T>G; p.C242G; 17:7674239-7674239 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
eye; conjunctiva | other; pterygium | Substitution - Missense |
c.567C>T; p.A189A; 17:7674964-7674964 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.531_532CC>TT; p.H178Y; 17:7675080-7675081 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.610G>T; p.E204*; 17:7674921-7674921 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.832C>T; p.P278S; 17:7673788-7673788 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
pancreas | carcinoma | Substitution - Missense |
c.401T>C; p.F134S; 17:7675211-7675211 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.724T>G; p.C242G; 17:7674239-7674239 |
pancreas | carcinoma | Substitution - Missense |
c.610G>T; p.E204*; 17:7674921-7674921 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.610G>T; p.E204*; 17:7674921-7674921 |
breast | carcinoma | Substitution - Nonsense |
c.715A>G; p.N239D; 17:7674248-7674248 |
ovary | other; neoplasm | Substitution - Missense |
c.610G>T; p.E204*; 17:7674921-7674921 |
breast | carcinoma | Substitution - Nonsense |
c.610G>T; p.E204*; 17:7674921-7674921 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.793C>A; p.L265M; 17:7673827-7673827 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.610G>T; p.E204*; 17:7674921-7674921 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.715A>G; p.N239D; 17:7674248-7674248 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.701A>C; p.Y234S; 17:7674262-7674262 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.724T>G; p.C242G; 17:7674239-7674239 |
liver | carcinoma | Substitution - Missense |
c.829T>G; p.C277G; 17:7673791-7673791 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour | Substitution - Missense |
c.829T>G; p.C277G; 17:7673791-7673791 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
pancreas | carcinoma | Substitution - Missense |
c.673-2A>T; p.?; 17:7674292-7674292 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.201A>G; p.P67P; 17:7676168-7676168 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.389T>A; p.L130H; 17:7675223-7675223 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
skin | in_situ_epithelial_neoplasm; Bowen_disease | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.389T>A; p.L130H; 17:7675223-7675223 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
skin; trunk | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.793C>A; p.L265M; 17:7673827-7673827 |
breast | carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
skin | malignant_melanoma | Substitution - Missense |
c.793C>A; p.L265M; 17:7673827-7673827 |
breast | carcinoma | Substitution - Missense |
c.610G>T; p.E204*; 17:7674921-7674921 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Nonsense |
c.610G>T; p.E204*; 17:7674921-7674921 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.546C>A; p.C182*; 17:7675066-7675066 |
large_intestine; rectum | carcinoma | Substitution - Nonsense |
c.567C>T; p.A189A; 17:7674964-7674964 |
skin | malignant_melanoma; superficial_spreading | Substitution - coding silent |
c.832C>T; p.P278S; 17:7673788-7673788 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
liver | carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.414_425del12; p.K139_P142delKTCP; 17:7675187-7675198 |
breast | carcinoma | Deletion - In frame |
c.701A>C; p.Y234S; 17:7674262-7674262 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1084delA; p.S362fs*8; 17:7670625-7670625 |
skin; ear | other; normal | Deletion - Frameshift |
c.715A>G; p.N239D; 17:7674248-7674248 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Substitution - Missense |
c.401T>C; p.F134S; 17:7675211-7675211 |
large_intestine | adenoma | Substitution - Missense |
c.610G>T; p.E204*; 17:7674921-7674921 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.871A>G; p.K291E; 17:7673749-7673749 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.375+2T>G; p.?; 17:7675992-7675992 |
breast | carcinoma | Unknown |
c.389T>A; p.L130H; 17:7675223-7675223 |
stomach | adenocarcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.871A>G; p.K291E; 17:7673749-7673749 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.1024delC; p.R342fs*3; 17:7670685-7670685 |
ovary | adenoma; serous | Deletion - Frameshift |
c.832C>T; p.P278S; 17:7673788-7673788 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.816G>C; p.V272V; 17:7673804-7673804 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.724T>G; p.C242G; 17:7674239-7674239 |
liver | carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.201A>G; p.P67P; 17:7676168-7676168 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.673-2A>T; p.?; 17:7674292-7674292 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.832C>T; p.P278S; 17:7673788-7673788 |
breast | carcinoma | Substitution - Missense |
c.610G>T; p.E204*; 17:7674921-7674921 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.701A>C; p.Y234S; 17:7674262-7674262 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm | Substitution - Missense |
c.319T>C; p.Y107H; 17:7676050-7676050 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.1023_1024CC>TT; p.R342*; 17:7670685-7670686 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Nonsense |
c.793C>A; p.L265M; 17:7673827-7673827 |
pancreas | carcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
breast | carcinoma | Substitution - Missense |
c.1024delC; p.R342fs*3; 17:7670685-7670685 |
breast | carcinoma | Deletion - Frameshift |
c.832C>T; p.P278S; 17:7673788-7673788 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.610G>T; p.E204*; 17:7674921-7674921 |
lung | carcinoma | Substitution - Nonsense |
c.380_387delCCCCTGCC; p.P128fs*18; 17:7675225-7675232 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.610G>T; p.E204*; 17:7674921-7674921 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.832C>T; p.P278S; 17:7673788-7673788 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.610G>T; p.E204*; 17:7674921-7674921 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.832C>T; p.P278S; 17:7673788-7673788 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.610G>T; p.E204*; 17:7674921-7674921 |
breast | carcinoma | Substitution - Nonsense |
c.610G>T; p.E204*; 17:7674921-7674921 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.832C>T; p.P278S; 17:7673788-7673788 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1024delC; p.R342fs*3; 17:7670685-7670685 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.715A>G; p.N239D; 17:7674248-7674248 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1128T>C; p.S376S; 17:7669663-7669663 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.559G>T; p.G187C; 17:7675053-7675053 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.829T>G; p.C277G; 17:7673791-7673791 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.701A>C; p.Y234S; 17:7674262-7674262 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.610G>T; p.E204*; 17:7674921-7674921 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.832C>T; p.P278S; 17:7673788-7673788 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.546C>A; p.C182*; 17:7675066-7675066 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Nonsense |
c.715A>G; p.N239D; 17:7674248-7674248 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
oesophagus | other; oesophagitis | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
ovary | other; neoplasm | Substitution - Missense |
c.559G>T; p.G187C; 17:7675053-7675053 |
breast | carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.724T>G; p.C242G; 17:7674239-7674239 |
skin | malignant_melanoma | Substitution - Missense |
c.1024delC; p.R342fs*3; 17:7670685-7670685 |
ovary | other; neoplasm | Deletion - Frameshift |
c.715A>G; p.N239D; 17:7674248-7674248 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.832C>T; p.P278S; 17:7673788-7673788 |
breast | carcinoma | Substitution - Missense |
c.610G>T; p.E204*; 17:7674921-7674921 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.715A>G; p.N239D; 17:7674248-7674248 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.715A>G; p.N239D; 17:7674248-7674248 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1024delC; p.R342fs*3; 17:7670685-7670685 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.610G>T; p.E204*; 17:7674921-7674921 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.610G>T; p.E204*; 17:7674921-7674921 |
NS | NS | Substitution - Nonsense |
c.715A>G; p.N239D; 17:7674248-7674248 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.444T>C; p.D148D; 17:7675168-7675168 |
pleura | mesothelioma | Substitution - coding silent |
c.715A>G; p.N239D; 17:7674248-7674248 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
breast | carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Substitution - Nonsense |
c.374C>G; p.T125R; 17:7675995-7675995 |
central_nervous_system; temporal_lobe | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.584T>A; p.I195N; 17:7674947-7674947 |
ovary | carcinoma; undifferentiated_carcinoma | Substitution - Missense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
oesophagus | carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
pancreas | carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.793delC; p.L265fs*80; 17:7673827-7673827 |
cervix | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1024C>T; p.R342*; 17:7670685-7670685 |
breast | carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
endometrium | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.949delC; p.Q317fs*28; 17:7673579-7673579 |
pancreas | carcinoma; acinar_carcinoma | Deletion - Frameshift |
c.1024C>T; p.R342*; 17:7670685-7670685 |
breast | carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
pancreas | carcinoma | Substitution - Nonsense |
c.584T>A; p.I195N; 17:7674947-7674947 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
ovary | other; neoplasm | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.441delT; p.D148fs*22; 17:7675171-7675171 |
breast | other; neoplasm | Deletion - Frameshift |
c.1024C>T; p.R342*; 17:7670685-7670685 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.631delA; p.T211fs*36; 17:7674900-7674900 |
oesophagus | other; Barrett_oesophagus | Deletion - Frameshift |
c.1024C>T; p.R342*; 17:7670685-7670685 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.793delC; p.L265fs*80; 17:7673827-7673827 |
cervix | carcinoma | Deletion - Frameshift |
c.1024C>T; p.R342*; 17:7670685-7670685 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.631delA; p.T211fs*36; 17:7674900-7674900 |
bone; femur | chondrosarcoma | Deletion - Frameshift |
c.1024C>T; p.R342*; 17:7670685-7670685 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.584T>A; p.I195N; 17:7674947-7674947 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.584T>A; p.I195N; 17:7674947-7674947 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
pancreas | carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.852_853insCGGCGCACA; p.T284_E285insRRT; 17:7673767-7673768 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Insertion - In frame |
c.1024C>T; p.R342*; 17:7670685-7670685 |
pancreas | carcinoma | Substitution - Nonsense |
c.374C>G; p.T125R; 17:7675995-7675995 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
breast | carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
pancreas | carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
pancreas | carcinoma | Substitution - Nonsense |
c.584T>A; p.I195N; 17:7674947-7674947 |
oesophagus | carcinoma | Substitution - Missense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.584T>A; p.I195N; 17:7674947-7674947 |
pancreas | other; dysplasia-in_situ_neoplasm | Substitution - Missense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.976G>T; p.E326*; 17:7673552-7673552 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.584T>A; p.I195N; 17:7674947-7674947 |
ovary | carcinoma | Substitution - Missense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
pancreas | carcinoma | Substitution - Nonsense |
c.383_388delCTGCCC; p.P128_A129delPA; 17:7675224-7675229 |
lung | carcinoma; adenocarcinoma | Deletion - In frame |
c.949delC; p.Q317fs*28; 17:7673579-7673579 |
liver | carcinoma | Deletion - Frameshift |
c.1024C>T; p.R342*; 17:7670685-7670685 |
skin | malignant_melanoma | Substitution - Nonsense |
c.565_591del27; p.A189_V197delAPPQHLIRV; 17:7674940-7674966 |
skin | carcinoma; basal_cell_carcinoma | Deletion - In frame |
c.1024C>T; p.R342*; 17:7670685-7670685 |
breast | carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.919+40delG; p.?; 17:7673661-7673661 |
skin | carcinoma; basal_cell_carcinoma | Unknown |
c.374C>G; p.T125R; 17:7675995-7675995 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.584T>A; p.I195N; 17:7674947-7674947 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
oesophagus | carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.494_495insN; p.Q165fs*16; 17:7675117-7675118 |
breast | carcinoma | Insertion - Frameshift |
c.631delA; p.T211fs*36; 17:7674900-7674900 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.923_963del41; p.L308fs*15; 17:7673565-7673605 |
breast | carcinoma | Deletion - Frameshift |
c.565_591del27; p.A189_V197delAPPQHLIRV; 17:7674940-7674966 |
skin | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1024C>T; p.R342*; 17:7670685-7670685 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.321C>T; p.Y107Y; 17:7676048-7676048 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - coding silent |
c.490A>C; p.K164Q; 17:7675122-7675122 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Nonsense |
c.976G>T; p.E326*; 17:7673552-7673552 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
pancreas | carcinoma | Substitution - Nonsense |
c.584T>A; p.I195N; 17:7674947-7674947 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
breast | carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
kidney | Wilms_tumour | Substitution - Nonsense |
c.584T>A; p.I195N; 17:7674947-7674947 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.805_812delAGCTTTGA; p.S269fs*34; 17:7673808-7673815 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1024C>T; p.R342*; 17:7670685-7670685 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
pancreas | carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.490A>C; p.K164Q; 17:7675122-7675122 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.976G>T; p.E326*; 17:7673552-7673552 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.433C>A; p.L145M; 17:7675179-7675179 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.631delA; p.T211fs*36; 17:7674900-7674900 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1024C>T; p.R342*; 17:7670685-7670685 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
skin; face | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
central_nervous_system; parietooccipital | glioma; oligodendroglioma_Grade_II | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.698A>C; p.H233P; 17:7674265-7674265 |
salivary_gland; major | adenoma; pleomorphic | Substitution - Missense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
ovary | other; neoplasm | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.876delA; p.E294fs*51; 17:7673744-7673744 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.1024C>T; p.R342*; 17:7670685-7670685 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
urinary_tract; bladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.793delC; p.L265fs*80; 17:7673827-7673827 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.1024C>T; p.R342*; 17:7670685-7670685 |
stomach | carcinoma; undifferentiated_adenocarcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
liver | carcinoma | Substitution - Nonsense |
c.584T>A; p.I195N; 17:7674947-7674947 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
pancreas | carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
breast | carcinoma | Substitution - Nonsense |
c.321C>T; p.Y107Y; 17:7676048-7676048 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - coding silent |
c.1024C>T; p.R342*; 17:7670685-7670685 |
salivary_gland | carcinoma; adenoid_cystic_carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
ovary | other; neoplasm | Substitution - Nonsense |
c.631delA; p.T211fs*36; 17:7674900-7674900 |
breast | carcinoma | Deletion - Frameshift |
c.1024C>T; p.R342*; 17:7670685-7670685 |
breast | carcinoma | Substitution - Nonsense |
c.584T>A; p.I195N; 17:7674947-7674947 |
ovary | other; neoplasm | Substitution - Missense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
skin | malignant_melanoma | Substitution - Nonsense |
c.584T>A; p.I195N; 17:7674947-7674947 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.374C>G; p.T125R; 17:7675995-7675995 |
breast | carcinoma | Substitution - Missense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
pancreas | carcinoma | Substitution - Nonsense |
c.643_646delAGTG; p.S215fs*31; 17:7674885-7674888 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.1024C>T; p.R342*; 17:7670685-7670685 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
skin; head_neck | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
breast | carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
lung | carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.321C>T; p.Y107Y; 17:7676048-7676048 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.1024C>T; p.R342*; 17:7670685-7670685 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.681T>A; p.S227S; 17:7674282-7674282 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1024C>T; p.R342*; 17:7670685-7670685 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.949delC; p.Q317fs*28; 17:7673579-7673579 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.584T>A; p.I195N; 17:7674947-7674947 |
ovary | carcinoma | Substitution - Missense |
c.584T>A; p.I195N; 17:7674947-7674947 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
breast | carcinoma | Substitution - Nonsense |
c.565_591del27; p.A189_V197delAPPQHLIRV; 17:7674940-7674966 |
skin | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1024C>T; p.R342*; 17:7670685-7670685 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.645_646insN; p.V216fs*6; 17:7674885-7674886 |
urinary_tract; bladder | carcinoma | Insertion - Frameshift |
c.1024C>T; p.R342*; 17:7670685-7670685 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.565_591del27; p.A189_V197delAPPQHLIRV; 17:7674940-7674966 |
skin | carcinoma; basal_cell_carcinoma | Deletion - In frame |
c.1024C>T; p.R342*; 17:7670685-7670685 |
liver | carcinoma | Substitution - Nonsense |
c.976G>T; p.E326*; 17:7673552-7673552 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
breast | carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
breast | carcinoma | Substitution - Nonsense |
c.584T>A; p.I195N; 17:7674947-7674947 |
ovary | other; neoplasm | Substitution - Missense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
pancreas | carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
lung | carcinoma | Substitution - Nonsense |
c.1024C>T; p.R342*; 17:7670685-7670685 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.584T>A; p.I195N; 17:7674947-7674947 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.569delC; p.P190fs*57; 17:7674962-7674962 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.862delA; p.N288fs*57; 17:7673758-7673758 |
central_nervous_system; brain | glioma; astrocytoma | Deletion - Frameshift |
c.406C>T; p.Q136*; 17:7675206-7675206 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.763A>T; p.I255F; 17:7674200-7674200 |
breast | carcinoma | Substitution - Missense |
c.625_631delAGAAACA; p.R209fs*36; 17:7674900-7674906 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.406C>T; p.Q136*; 17:7675206-7675206 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.751_759delATCCTCACC; p.L252_I254delLTI; 17:7674204-7674212 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.569delC; p.P190fs*57; 17:7674962-7674962 |
kidney | carcinoma; chromophobe_renal_cell_carcinoma | Deletion - Frameshift |
c.406C>T; p.Q136*; 17:7675206-7675206 |
breast | carcinoma | Substitution - Nonsense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.377delA; p.Y126fs*44; 17:7675235-7675235 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.763A>T; p.I255F; 17:7674200-7674200 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.981T>C; p.Y327Y; 17:7673547-7673547 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.763A>T; p.I255F; 17:7674200-7674200 |
lung | carcinoid-endocrine_tumour; atypical | Substitution - Missense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Nonsense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
skin | malignant_melanoma | Substitution - Nonsense |
c.763A>T; p.I255F; 17:7674200-7674200 |
oesophagus | carcinoma | Substitution - Missense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.763A>T; p.I255F; 17:7674200-7674200 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; large_cell | Substitution - Missense |
c.763A>T; p.I255F; 17:7674200-7674200 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.569delC; p.P190fs*57; 17:7674962-7674962 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.763A>T; p.I255F; 17:7674200-7674200 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.377delA; p.Y126fs*44; 17:7675235-7675235 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.763A>T; p.I255F; 17:7674200-7674200 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.906G>T; p.G302G; 17:7673714-7673714 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.763A>T; p.I255F; 17:7674200-7674200 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1060C>T; p.Q354*; 17:7670649-7670649 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.603G>C; p.L201F; 17:7674928-7674928 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.770T>G; p.L257R; 17:7674193-7674193 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.763A>T; p.I255F; 17:7674200-7674200 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
breast | carcinoma | Substitution - Nonsense |
c.202delG; p.E68fs*55; 17:7676167-7676167 |
breast | carcinoma | Deletion - Frameshift |
c.406C>T; p.Q136*; 17:7675206-7675206 |
ovary | other; neoplasm | Substitution - Nonsense |
c.763A>T; p.I255F; 17:7674200-7674200 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.763A>T; p.I255F; 17:7674200-7674200 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Substitution - Nonsense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_III | Substitution - Nonsense |
c.763A>T; p.I255F; 17:7674200-7674200 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.603G>C; p.L201F; 17:7674928-7674928 |
thymus | thymic_carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.770T>G; p.L257R; 17:7674193-7674193 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.763A>T; p.I255F; 17:7674200-7674200 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.862delA; p.N288fs*57; 17:7673758-7673758 |
breast | carcinoma | Deletion - Frameshift |
c.603G>C; p.L201F; 17:7674928-7674928 |
thymus | thymic_carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.603G>C; p.L201F; 17:7674928-7674928 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Nonsense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.763A>T; p.I255F; 17:7674200-7674200 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.763A>T; p.I255F; 17:7674200-7674200 |
oesophagus | carcinoma | Substitution - Missense |
c.916_917insTAAG; p.R306fs*32; 17:7673703-7673704 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.339C>T; p.F113F; 17:7676030-7676030 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.406C>T; p.Q136*; 17:7675206-7675206 |
central_nervous_system; temporal_lobe | glioma; astrocytoma | Substitution - Nonsense |
c.568C>G; p.P190A; 17:7674963-7674963 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.763A>T; p.I255F; 17:7674200-7674200 |
ovary | other; neoplasm | Substitution - Missense |
c.763A>T; p.I255F; 17:7674200-7674200 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.498A>G; p.S166S; 17:7675114-7675114 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.763A>T; p.I255F; 17:7674200-7674200 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.498A>G; p.S166S; 17:7675114-7675114 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.406C>T; p.Q136*; 17:7675206-7675206 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
skin; arm | other; keratosis | Substitution - Nonsense |
c.751_759delATCCTCACC; p.L252_I254delLTI; 17:7674204-7674212 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Deletion - In frame |
c.406C>T; p.Q136*; 17:7675206-7675206 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.751_759delATCCTCACC; p.L252_I254delLTI; 17:7674204-7674212 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.763A>T; p.I255F; 17:7674200-7674200 |
oesophagus | carcinoma | Substitution - Missense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
skin | other; keratosis | Substitution - Nonsense |
c.763A>T; p.I255F; 17:7674200-7674200 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Nonsense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Nonsense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_III | Substitution - Nonsense |
c.763A>T; p.I255F; 17:7674200-7674200 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Nonsense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.763A>T; p.I255F; 17:7674200-7674200 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.763A>T; p.I255F; 17:7674200-7674200 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.763A>T; p.I255F; 17:7674200-7674200 |
breast | carcinoma | Substitution - Missense |
c.763A>T; p.I255F; 17:7674200-7674200 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.569delC; p.P190fs*57; 17:7674962-7674962 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.413_414CC>TT; p.A138V; 17:7675198-7675199 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.290T>C; p.V97A; 17:7676079-7676079 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.751_759delATCCTCACC; p.L252_I254delLTI; 17:7674204-7674212 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.406C>T; p.Q136*; 17:7675206-7675206 |
pancreas | carcinoma | Substitution - Nonsense |
c.202delG; p.E68fs*55; 17:7676167-7676167 |
breast | carcinoma | Deletion - Frameshift |
c.406C>T; p.Q136*; 17:7675206-7675206 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.559G>C; p.G187R; 17:7675053-7675053 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.763A>T; p.I255F; 17:7674200-7674200 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
ovary | other; neoplasm | Substitution - Nonsense |
c.406C>T; p.Q136*; 17:7675206-7675206 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.602_603insT; p.L201fs*8; 17:7674928-7674929 |
breast | carcinoma | Insertion - Frameshift |
c.568C>G; p.P190A; 17:7674963-7674963 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.811G>T; p.E271*; 17:7673809-7673809 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Nonsense |
c.448_459del12; p.T150_P153delTPPP; 17:7675153-7675164 |
upper_aerodigestive_tract; mouth | carcinoma | Deletion - In frame |
c.811G>T; p.E271*; 17:7673809-7673809 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.787delA; p.N263fs*82; 17:7673833-7673833 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.749delC; p.I251fs*94; 17:7674214-7674214 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.880delG; p.E294fs*51; 17:7673740-7673740 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.880delG; p.E294fs*51; 17:7673740-7673740 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.811G>T; p.E271*; 17:7673809-7673809 |
lung | carcinoma; undifferentiated_carcinoma | Substitution - Nonsense |
c.811G>T; p.E271*; 17:7673809-7673809 |
ovary | carcinoma; mixed_carcinoma | Substitution - Nonsense |
c.678C>T; p.G226G; 17:7674285-7674285 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.871A>C; p.K291Q; 17:7673749-7673749 |
soft_tissue; striated_muscle | rhabdomyosarcoma; alveolar | Substitution - Missense |
c.811G>T; p.E271*; 17:7673809-7673809 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.880delG; p.E294fs*51; 17:7673740-7673740 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.456delG; p.G154fs*16; 17:7675156-7675156 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.416A>C; p.K139T; 17:7675196-7675196 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.530C>G; p.P177R; 17:7675082-7675082 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.787delA; p.N263fs*82; 17:7673833-7673833 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.811G>T; p.E271*; 17:7673809-7673809 |
breast | carcinoma | Substitution - Nonsense |
c.522_523insN; p.R175fs*6; 17:7675089-7675090 |
breast | carcinoma | Insertion - Frameshift |
c.530C>G; p.P177R; 17:7675082-7675082 |
stomach | adenocarcinoma | Substitution - Missense |
c.880delG; p.E294fs*51; 17:7673740-7673740 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.636_636delT; p.R213fs*34; 17:7674895-7674895 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Deletion - Frameshift |
c.499C>G; p.Q167E; 17:7675113-7675113 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.530C>G; p.P177R; 17:7675082-7675082 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.811G>T; p.E271*; 17:7673809-7673809 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.811G>T; p.E271*; 17:7673809-7673809 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.530C>G; p.P177R; 17:7675082-7675082 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.811G>T; p.E271*; 17:7673809-7673809 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.880delG; p.E294fs*51; 17:7673740-7673740 |
lung | carcinoma; small_cell_carcinoma | Deletion - Frameshift |
c.321C>G; p.Y107*; 17:7676048-7676048 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.530C>G; p.P177R; 17:7675082-7675082 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.530C>G; p.P177R; 17:7675082-7675082 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.321C>G; p.Y107*; 17:7676048-7676048 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Nonsense |
c.530C>G; p.P177R; 17:7675082-7675082 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.530C>G; p.P177R; 17:7675082-7675082 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.428T>G; p.V143G; 17:7675184-7675184 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.456delG; p.G154fs*16; 17:7675156-7675156 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.530C>G; p.P177R; 17:7675082-7675082 |
stomach | carcinoma | Substitution - Missense |
c.530C>G; p.P177R; 17:7675082-7675082 |
breast | carcinoma | Substitution - Missense |
c.530C>G; p.P177R; 17:7675082-7675082 |
prostate | carcinoma | Substitution - Missense |
c.509_516delCGGAGGTT; p.T170fs*8; 17:7675096-7675103 |
kidney | Wilms_tumour | Deletion - Frameshift |
c.880delG; p.E294fs*51; 17:7673740-7673740 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.577_578insN; p.H193fs*16; 17:7674953-7674954 |
lung | carcinoma; non_small_cell_carcinoma | Insertion - Frameshift |
c.787delA; p.N263fs*82; 17:7673833-7673833 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.468_481del14; p.V157fs*19; 17:7675131-7675144 |
breast | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.468_481del14; p.V157fs*19; 17:7675131-7675144 |
breast | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.530C>G; p.P177R; 17:7675082-7675082 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.811G>T; p.E271*; 17:7673809-7673809 |
oesophagus | carcinoma | Substitution - Nonsense |
c.530C>G; p.P177R; 17:7675082-7675082 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.577_578insN; p.H193fs*16; 17:7674953-7674954 |
lung | carcinoma; non_small_cell_carcinoma | Insertion - Frameshift |
c.811G>T; p.E271*; 17:7673809-7673809 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.811G>T; p.E271*; 17:7673809-7673809 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Nonsense |
c.811G>T; p.E271*; 17:7673809-7673809 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.678C>T; p.G226G; 17:7674285-7674285 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.321C>G; p.Y107*; 17:7676048-7676048 |
breast | carcinoma | Substitution - Nonsense |
c.530C>G; p.P177R; 17:7675082-7675082 |
breast | carcinoma | Substitution - Missense |
c.321C>G; p.Y107*; 17:7676048-7676048 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.428T>G; p.V143G; 17:7675184-7675184 |
skin | malignant_melanoma | Substitution - Missense |
c.1025delG; p.R342fs*3; 17:7670684-7670684 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.811G>T; p.E271*; 17:7673809-7673809 |
oesophagus | carcinoma | Substitution - Nonsense |
c.577_578insN; p.H193fs*16; 17:7674953-7674954 |
lung | carcinoma; non_small_cell_carcinoma | Insertion - Frameshift |
c.811G>T; p.E271*; 17:7673809-7673809 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.880delG; p.E294fs*51; 17:7673740-7673740 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.714_715insNNN; p.C238_N239insX; 17:7674248-7674249 |
central_nervous_system; temporal_lobe | glioma; astrocytoma | Insertion - In frame |
c.880delG; p.E294fs*51; 17:7673740-7673740 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.530C>G; p.P177R; 17:7675082-7675082 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.530C>G; p.P177R; 17:7675082-7675082 |
stomach | carcinoma; signet_ring_adenocarcinoma | Substitution - Missense |
c.742_743insC; p.R248fs*16; 17:7674220-7674221 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.328_329insC; p.R110fs*39; 17:7676040-7676041 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Insertion - Frameshift |
c.530C>G; p.P177R; 17:7675082-7675082 |
pancreas | carcinoma | Substitution - Missense |
c.880delG; p.E294fs*51; 17:7673740-7673740 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.811G>T; p.E271*; 17:7673809-7673809 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.811G>T; p.E271*; 17:7673809-7673809 |
oesophagus | carcinoma | Substitution - Nonsense |
c.858A>C; p.E286D; 17:7673762-7673762 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.880delG; p.E294fs*51; 17:7673740-7673740 |
lung | carcinoma | Deletion - Frameshift |
c.880delG; p.E294fs*51; 17:7673740-7673740 |
lung | carcinoma | Deletion - Frameshift |
c.1176_1177insA; p.D393fs*>2; 17:7669614-7669615 |
kidney | Wilms_tumour; unilateral | Insertion - Frameshift |
c.530C>G; p.P177R; 17:7675082-7675082 |
central_nervous_system; occipital_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.880delG; p.E294fs*51; 17:7673740-7673740 |
lung | carcinoma | Deletion - Frameshift |
c.880delG; p.E294fs*51; 17:7673740-7673740 |
lung | carcinoma | Deletion - Frameshift |
c.518T>G; p.V173G; 17:7675094-7675094 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.577C>G; p.H193D; 17:7674954-7674954 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.384T>G; p.P128P; 17:7675228-7675228 |
breast | carcinoma | Substitution - coding silent |
c.669_670delTG; p.E224fs*4; 17:7674861-7674862 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.602delT; p.L201fs*46; 17:7674929-7674929 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.604C>A; p.R202S; 17:7674927-7674927 |
breast | carcinoma | Substitution - Missense |
c.624C>G; p.D208E; 17:7674907-7674907 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.542G>A; p.R181H; 17:7675070-7675070 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; classic | Substitution - Missense |
c.529_545del17; p.P177fs*3; 17:7675067-7675083 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.542G>A; p.R181H; 17:7675070-7675070 |
pancreas | carcinoma | Substitution - Missense |
c.518T>G; p.V173G; 17:7675094-7675094 |
endometrium | carcinoma | Substitution - Missense |
c.577C>G; p.H193D; 17:7674954-7674954 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.542G>A; p.R181H; 17:7675070-7675070 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.542G>A; p.R181H; 17:7675070-7675070 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.281C>G; p.S94*; 17:7676088-7676088 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.624C>G; p.D208E; 17:7674907-7674907 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.518T>G; p.V173G; 17:7675094-7675094 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.880G>A; p.E294K; 17:7673740-7673740 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.569C>A; p.P190H; 17:7674962-7674962 |
salivary_gland; parotid | carcinoma; mucoepidermoid_carcinoma | Substitution - Missense |
c.904delG; p.S303fs*42; 17:7673716-7673716 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.542G>A; p.R181H; 17:7675070-7675070 |
pancreas | carcinoma | Substitution - Missense |
c.1100+7G>T; p.?; 17:7670602-7670602 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.542G>A; p.R181H; 17:7675070-7675070 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.595G>A; p.G199R; 17:7674936-7674936 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.595G>A; p.G199R; 17:7674936-7674936 |
urinary_tract; bladder | papilloma; typical | Substitution - Missense |
c.542G>A; p.R181H; 17:7675070-7675070 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.697delC; p.H233fs*14; 17:7674266-7674266 |
urinary_tract; bladder | carcinoma | Deletion - Frameshift |
c.303A>T; p.K101N; 17:7676066-7676066 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.880G>A; p.E294K; 17:7673740-7673740 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.577C>G; p.H193D; 17:7674954-7674954 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.542G>A; p.R181H; 17:7675070-7675070 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Substitution - Missense |
c.444delT; p.S149fs*21; 17:7675168-7675168 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.542G>A; p.R181H; 17:7675070-7675070 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.281C>G; p.S94*; 17:7676088-7676088 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.518T>G; p.V173G; 17:7675094-7675094 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.334_340delGGCTTCT; p.G112fs*9; 17:7676029-7676035 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.542G>A; p.R181H; 17:7675070-7675070 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.993+2T>G; p.?; 17:7673533-7673533 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Unknown |
c.595G>A; p.G199R; 17:7674936-7674936 |
soft_tissue; fibrous_tissue_and_uncertain_o | synovial_sarcoma | Substitution - Missense |
c.653T>C; p.V218A; 17:7674878-7674878 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.328C>A; p.R110S; 17:7676041-7676041 |
salivary_gland; major | carcinoma; mucoepidermoid_carcinoma | Substitution - Missense |
c.604C>A; p.R202S; 17:7674927-7674927 |
breast | carcinoma | Substitution - Missense |
c.542G>A; p.R181H; 17:7675070-7675070 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.577C>G; p.H193D; 17:7674954-7674954 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.653T>C; p.V218A; 17:7674878-7674878 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.577C>G; p.H193D; 17:7674954-7674954 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.444delT; p.S149fs*21; 17:7675168-7675168 |
pancreas | carcinoid-endocrine_tumour | Deletion - Frameshift |
c.542G>A; p.R181H; 17:7675070-7675070 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.518T>G; p.V173G; 17:7675094-7675094 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.577C>G; p.H193D; 17:7674954-7674954 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.602delT; p.L201fs*46; 17:7674929-7674929 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.604C>A; p.R202S; 17:7674927-7674927 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.542G>A; p.R181H; 17:7675070-7675070 |
pancreas | carcinoma | Substitution - Missense |
c.542G>A; p.R181H; 17:7675070-7675070 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; large_cell | Substitution - Missense |
c.542G>A; p.R181H; 17:7675070-7675070 |
endometrium | carcinoma | Substitution - Missense |
c.577C>G; p.H193D; 17:7674954-7674954 |
breast | carcinoma | Substitution - Missense |
c.604C>A; p.R202S; 17:7674927-7674927 |
oesophagus | carcinoma | Substitution - Missense |
c.993+2T>G; p.?; 17:7673533-7673533 |
breast | carcinoma | Unknown |
c.904delG; p.S303fs*42; 17:7673716-7673716 |
skin | benign_melanocytic_nevus | Deletion - Frameshift |
c.542G>A; p.R181H; 17:7675070-7675070 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.529_545del17; p.P177fs*3; 17:7675067-7675083 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.281C>G; p.S94*; 17:7676088-7676088 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.542G>A; p.R181H; 17:7675070-7675070 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.518T>G; p.V173G; 17:7675094-7675094 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.281C>G; p.S94*; 17:7676088-7676088 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.904delG; p.S303fs*42; 17:7673716-7673716 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.595G>A; p.G199R; 17:7674936-7674936 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.604C>A; p.R202S; 17:7674927-7674927 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.595G>A; p.G199R; 17:7674936-7674936 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.518T>G; p.V173G; 17:7675094-7675094 |
bone | osteosarcoma | Substitution - Missense |
c.993+2T>G; p.?; 17:7673533-7673533 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Unknown |
c.542G>A; p.R181H; 17:7675070-7675070 |
breast | carcinoma | Substitution - Missense |
c.336C>T; p.G112G; 17:7676033-7676033 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.671A>G; p.E224G; 17:7674860-7674860 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.595G>A; p.G199R; 17:7674936-7674936 |
breast | carcinoma | Substitution - Missense |
c.904delG; p.S303fs*42; 17:7673716-7673716 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.604C>A; p.R202S; 17:7674927-7674927 |
breast | carcinoma | Substitution - Missense |
c.595G>A; p.G199R; 17:7674936-7674936 |
kidney | Wilms_tumour | Substitution - Missense |
c.405_406CC>TT; p.Q136*; 17:7675206-7675207 |
skin; face | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Nonsense |
c.522_539del18; p.P177_C182delPHHERC; 17:7675073-7675090 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Deletion - In frame |
c.577C>G; p.H193D; 17:7674954-7674954 |
ovary | carcinoma | Substitution - Missense |
c.522_539del18; p.P177_C182delPHHERC; 17:7675073-7675090 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Deletion - In frame |
c.662delA; p.E221fs*26; 17:7674869-7674869 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.671A>G; p.E224G; 17:7674860-7674860 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.542G>A; p.R181H; 17:7675070-7675070 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.904delG; p.S303fs*42; 17:7673716-7673716 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.624C>G; p.D208E; 17:7674907-7674907 |
breast | carcinoma | Substitution - Missense |
c.542G>A; p.R181H; 17:7675070-7675070 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Missense |
c.542G>A; p.R181H; 17:7675070-7675070 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.577C>G; p.H193D; 17:7674954-7674954 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.542G>A; p.R181H; 17:7675070-7675070 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.653T>C; p.V218A; 17:7674878-7674878 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.697delC; p.H233fs*14; 17:7674266-7674266 |
skin; mucosal | malignant_melanoma | Deletion - Frameshift |
c.880G>A; p.E294K; 17:7673740-7673740 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.662delA; p.E221fs*26; 17:7674869-7674869 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.518T>G; p.V173G; 17:7675094-7675094 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.542G>A; p.R181H; 17:7675070-7675070 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.542G>A; p.R181H; 17:7675070-7675070 |
large_intestine; appendix | carcinoid-endocrine_tumour | Substitution - Missense |
c.577C>G; p.H193D; 17:7674954-7674954 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.870C>G; p.R290R; 17:7673750-7673750 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.828C>G; p.A276A; 17:7673792-7673792 |
breast | carcinoma | Substitution - coding silent |
c.518T>G; p.V173G; 17:7675094-7675094 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.595G>A; p.G199R; 17:7674936-7674936 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.595G>A; p.G199R; 17:7674936-7674936 |
central_nervous_system; parietal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.542G>A; p.R181H; 17:7675070-7675070 |
prostate | hyperplasia | Substitution - Missense |
c.454C>T; p.P152S; 17:7675158-7675158 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.694A>T; p.I232F; 17:7674269-7674269 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.694A>T; p.I232F; 17:7674269-7674269 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.694A>T; p.I232F; 17:7674269-7674269 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.445_523del79; p.S149fs*72; 17:7675089-7675167 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.454C>T; p.P152S; 17:7675158-7675158 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.643_658del16; p.S215fs*27; 17:7674873-7674888 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.527G>A; p.C176Y; 17:7675085-7675085 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
lung | carcinoma | Substitution - Missense |
c.560-1_583del25; p.?; 17:7674948-7674972 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.527G>A; p.C176Y; 17:7675085-7675085 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.813G>A; p.E271E; 17:7673807-7673807 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.527G>A; p.C176Y; 17:7675085-7675085 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.887A>T; p.H296L; 17:7673733-7673733 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.454C>T; p.P152S; 17:7675158-7675158 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.887A>T; p.H296L; 17:7673733-7673733 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.577C>A; p.H193N; 17:7674954-7674954 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.454C>T; p.P152S; 17:7675158-7675158 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
bone | osteosarcoma | Substitution - Missense |
c.454C>T; p.P152S; 17:7675158-7675158 |
breast | other; fibroadenoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
oesophagus | carcinoma | Substitution - Missense |
c.454C>T; p.P152S; 17:7675158-7675158 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.577C>A; p.H193N; 17:7674954-7674954 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.855G>A; p.E285E; 17:7673765-7673765 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.648_649insNNNNNNNN; p.V217fs*33; 17:7674882-7674883 |
central_nervous_system; parietal_lobe | glioma; astrocytoma_Grade_IV | Insertion - Frameshift |
c.454C>T; p.P152S; 17:7675158-7675158 |
skin; arm | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.694A>T; p.I232F; 17:7674269-7674269 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.454C>T; p.P152S; 17:7675158-7675158 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.887A>T; p.H296L; 17:7673733-7673733 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.410T>C; p.L137P; 17:7675202-7675202 |
prostate | carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454C>T; p.P152S; 17:7675158-7675158 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.454C>T; p.P152S; 17:7675158-7675158 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.694A>T; p.I232F; 17:7674269-7674269 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.358delA; p.K120fs*3; 17:7676011-7676011 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.527G>A; p.C176Y; 17:7675085-7675085 |
liver | carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.353C>T; p.T118I; 17:7676016-7676016 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.353C>T; p.T118I; 17:7676016-7676016 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.454C>T; p.P152S; 17:7675158-7675158 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
pancreas | carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
pancreas | carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
oesophagus | carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.454C>T; p.P152S; 17:7675158-7675158 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.957G>A; p.K319K; 17:7673571-7673571 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.527G>A; p.C176Y; 17:7675085-7675085 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.672_673insNNNNNN; p.E224_V225insXX; 17:7674290-7674859 |
large_intestine | carcinoma; adenocarcinoma | Insertion - In frame |
c.527G>A; p.C176Y; 17:7675085-7675085 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.782G>C; p.S261T; 17:7674181-7674181 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.577C>A; p.H193N; 17:7674954-7674954 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.694A>T; p.I232F; 17:7674269-7674269 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.813G>A; p.E271E; 17:7673807-7673807 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.855G>A; p.E285E; 17:7673765-7673765 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.887A>T; p.H296L; 17:7673733-7673733 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
skin | malignant_melanoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.577C>A; p.H193N; 17:7674954-7674954 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
stomach | carcinoma; undifferentiated_adenocarcinoma | Substitution - Missense |
c.454C>T; p.P152S; 17:7675158-7675158 |
pancreas | carcinoma | Substitution - Missense |
c.694A>T; p.I232F; 17:7674269-7674269 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.454C>T; p.P152S; 17:7675158-7675158 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.454C>T; p.P152S; 17:7675158-7675158 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.825_826insNNNN; p.A276fs*31; 17:7673794-7673795 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.685T>A; p.C229S; 17:7674278-7674278 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.984_985ins14; p.T329fs*21; 17:7673543-7673544 |
central_nervous_system; brain | glioma; astrocytoma_Grade_I | Insertion - Frameshift |
c.527G>A; p.C176Y; 17:7675085-7675085 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.694A>T; p.I232F; 17:7674269-7674269 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.680_681ins8; p.?fs; 17:7674282-7674283 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.527G>A; p.C176Y; 17:7675085-7675085 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.454C>T; p.P152S; 17:7675158-7675158 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.680_681ins8; p.?fs; 17:7674282-7674283 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.527G>A; p.C176Y; 17:7675085-7675085 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
breast | carcinoma | Substitution - Missense |
c.577C>A; p.H193N; 17:7674954-7674954 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.694A>T; p.I232F; 17:7674269-7674269 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.353C>T; p.T118I; 17:7676016-7676016 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.454C>T; p.P152S; 17:7675158-7675158 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.454C>T; p.P152S; 17:7675158-7675158 |
breast | carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
breast | carcinoma | Substitution - Missense |
c.694A>T; p.I232F; 17:7674269-7674269 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.673_674delGT; p.V225fs*3; 17:7674289-7674290 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.577C>A; p.H193N; 17:7674954-7674954 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.679T>C; p.S227P; 17:7674284-7674284 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.782G>C; p.S261T; 17:7674181-7674181 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm | Substitution - Missense |
c.454C>T; p.P152S; 17:7675158-7675158 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.694A>T; p.I232F; 17:7674269-7674269 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.454C>T; p.P152S; 17:7675158-7675158 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
liver | carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.454C>T; p.P152S; 17:7675158-7675158 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.410T>C; p.L137P; 17:7675202-7675202 |
stomach | carcinoma | Substitution - Missense |
c.454C>T; p.P152S; 17:7675158-7675158 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.855G>A; p.E285E; 17:7673765-7673765 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.527G>A; p.C176Y; 17:7675085-7675085 |
skin; face | adnexal_tumour; malignant_adnexal_tumour | Substitution - Missense |
c.454C>T; p.P152S; 17:7675158-7675158 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.694A>T; p.I232F; 17:7674269-7674269 |
lung | other; pneumocytoma_(sclerosing_haemangioma) | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.679T>C; p.S227P; 17:7674284-7674284 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.679T>C; p.S227P; 17:7674284-7674284 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.577C>A; p.H193N; 17:7674954-7674954 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.353C>T; p.T118I; 17:7676016-7676016 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
breast | carcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.1005_1006insNNNN; p.E336fs*12; 17:7670703-7670704 |
upper_aerodigestive_tract; head_neck | carcinoma | Insertion - Frameshift |
c.410T>C; p.L137P; 17:7675202-7675202 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.527G>A; p.C176Y; 17:7675085-7675085 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.782G>C; p.S261T; 17:7674181-7674181 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.570_571insT; p.P191fs*18; 17:7674960-7674961 |
breast | carcinoma | Insertion - Frameshift |
c.527G>A; p.C176Y; 17:7675085-7675085 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454C>T; p.P152S; 17:7675158-7675158 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.623A>T; p.D208V; 17:7674908-7674908 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
breast | carcinoma | Substitution - Missense |
c.588A>G; p.R196R; 17:7674943-7674943 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.1096T>G; p.S366A; 17:7670613-7670613 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
central_nervous_system; brain | other; choroid_plexus_carcinoma | Substitution - Missense |
c.758C>A; p.T253N; 17:7674205-7674205 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.647T>C; p.V216A; 17:7674884-7674884 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
liver | other; hepatoblastoma | Substitution - Missense |
c.1096T>G; p.S366A; 17:7670613-7670613 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.623A>T; p.D208V; 17:7674908-7674908 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.623A>T; p.D208V; 17:7674908-7674908 |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_II | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.395A>T; p.K132M; 17:7675217-7675217 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.695_696insN; p.I232fs*8; 17:7674267-7674268 |
lung | carcinoma; non_small_cell_carcinoma | Insertion - Frameshift |
c.395A>T; p.K132M; 17:7675217-7675217 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.404_417del14; p.C135fs*9; 17:7675195-7675208 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.723C>G; p.S241S; 17:7674240-7674240 |
oesophagus | carcinoma | Substitution - coding silent |
c.847_856del10; p.R283fs*59; 17:7673764-7673773 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.725G>A; p.C242Y; 17:7674238-7674238 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.758C>A; p.T253N; 17:7674205-7674205 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.540G>T; p.E180D; 17:7675072-7675072 |
liver | carcinoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.395A>T; p.K132M; 17:7675217-7675217 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
soft_tissue; fat | liposarcoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
breast | carcinoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.647T>C; p.V216A; 17:7674884-7674884 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.395A>T; p.K132M; 17:7675217-7675217 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.395A>T; p.K132M; 17:7675217-7675217 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.623A>T; p.D208V; 17:7674908-7674908 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
breast | carcinoma | Substitution - Missense |
c.540G>T; p.E180D; 17:7675072-7675072 |
liver | carcinoma | Substitution - Missense |
c.465delC; p.R156fs*14; 17:7675147-7675147 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.725G>A; p.C242Y; 17:7674238-7674238 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.540G>T; p.E180D; 17:7675072-7675072 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1016A>G; p.E339G; 17:7670693-7670693 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.765_766ins28; p.T256fs*17; 17:7674197-7674198 |
breast | carcinoma | Insertion - Frameshift |
c.725G>A; p.C242Y; 17:7674238-7674238 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.623A>T; p.D208V; 17:7674908-7674908 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.647T>C; p.V216A; 17:7674884-7674884 |
urinary_tract; ureter | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.559_564delGGTCTG; p.G187_L188delGL; 17:7674967-7675053 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.395A>T; p.K132M; 17:7675217-7675217 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.623A>T; p.D208V; 17:7674908-7674908 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.395A>T; p.K132M; 17:7675217-7675217 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.540G>T; p.E180D; 17:7675072-7675072 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
lung | carcinoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.588A>G; p.R196R; 17:7674943-7674943 |
breast | carcinoma | Substitution - coding silent |
c.725G>A; p.C242Y; 17:7674238-7674238 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.641delA; p.H214fs*33; 17:7674890-7674890 |
lung | carcinoma | Deletion - Frameshift |
c.725G>A; p.C242Y; 17:7674238-7674238 |
bone | osteosarcoma | Substitution - Missense |
c.623A>T; p.D208V; 17:7674908-7674908 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.623A>T; p.D208V; 17:7674908-7674908 |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_III | Substitution - Missense |
c.623A>T; p.D208V; 17:7674908-7674908 |
eye; conjunctiva | other; pterygium | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.395A>T; p.K132M; 17:7675217-7675217 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.623A>T; p.D208V; 17:7674908-7674908 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.758C>A; p.T253N; 17:7674205-7674205 |
liver | carcinoma | Substitution - Missense |
c.395A>T; p.K132M; 17:7675217-7675217 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.623A>T; p.D208V; 17:7674908-7674908 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.782_782+18del19; p.?; 17:7674181-7674181 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.725G>A; p.C242Y; 17:7674238-7674238 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.404_405insN; p.C135fs*14; 17:7675207-7675208 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.363T>C; p.S121S; 17:7676006-7676006 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.725G>A; p.C242Y; 17:7674238-7674238 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.623A>T; p.D208V; 17:7674908-7674908 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.404_417del14; p.C135fs*9; 17:7675195-7675208 |
urinary_tract; bladder | carcinoma | Deletion - Frameshift |
c.725G>A; p.C242Y; 17:7674238-7674238 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.395A>T; p.K132M; 17:7675217-7675217 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.623A>T; p.D208V; 17:7674908-7674908 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
ovary | carcinoma | Substitution - Missense |
c.588A>G; p.R196R; 17:7674943-7674943 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.725G>A; p.C242Y; 17:7674238-7674238 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.670_672+1delGAGG; p.?; 17:7674858-7674861 |
stomach | carcinoma | Unknown |
c.641delA; p.H214fs*33; 17:7674890-7674890 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.725G>A; p.C242Y; 17:7674238-7674238 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.445_446insT; p.S149fs*32; 17:7675166-7675167 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.623A>T; p.D208V; 17:7674908-7674908 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.623A>T; p.D208V; 17:7674908-7674908 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.588A>G; p.R196R; 17:7674943-7674943 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.647T>C; p.V216A; 17:7674884-7674884 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.540G>T; p.E180D; 17:7675072-7675072 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.725G>A; p.C242Y; 17:7674238-7674238 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.439delG; p.V147fs*23; 17:7675173-7675173 |
liver | carcinoma | Deletion - Frameshift |
c.409C>G; p.L137V; 17:7675203-7675203 |
oesophagus | carcinoma | Substitution - Missense |
c.252C>T; p.A84A; 17:7676117-7676117 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia | Substitution - coding silent |
c.791_792ins15; p.L264_L265insSSGNL; 17:7673828-7673829 |
ovary | carcinoma; serous_carcinoma | Insertion - In frame |
c.522_533del12; p.R174_H178>S; 17:7675079-7675090 |
oesophagus | carcinoma; squamous_cell_carcinoma | Complex - deletion inframe |
c.901C>G; p.P301A; 17:7673719-7673719 |
breast | carcinoma | Substitution - Missense |
c.560-4T>A; p.?; 17:7674975-7674975 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.652G>A; p.V218M; 17:7674879-7674879 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Missense |
c.652G>A; p.V218M; 17:7674879-7674879 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Missense |
c.699_700insN; p.Y234fs*6; 17:7674263-7674264 |
lung | carcinoma; non_small_cell_carcinoma | Insertion - Frameshift |
c.652G>A; p.V218M; 17:7674879-7674879 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Missense |
c.992A>C; p.Q331P; 17:7673536-7673536 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.997C>T; p.R333C; 17:7670712-7670712 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.847C>G; p.R283G; 17:7673773-7673773 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.439delG; p.V147fs*23; 17:7675173-7675173 |
ovary | other; neoplasm | Deletion - Frameshift |
c.304A>G; p.T102A; 17:7676065-7676065 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.911delC; p.T304fs*41; 17:7673709-7673709 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Deletion - Frameshift |
c.669T>A; p.P223P; 17:7674862-7674862 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.322_323delGG; p.G108fs*40; 17:7676046-7676047 |
breast | carcinoma | Deletion - Frameshift |
c.970_971ins23; p.D324fs*29; 17:7673557-7673558 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.439delG; p.V147fs*23; 17:7675173-7675173 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.652G>A; p.V218M; 17:7674879-7674879 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Missense |
c.495G>T; p.Q165H; 17:7675117-7675117 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.652G>A; p.V218M; 17:7674879-7674879 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Missense |
c.673G>A; p.V225I; 17:7674290-7674290 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.439delG; p.V147fs*23; 17:7675173-7675173 |
breast | carcinoma | Deletion - Frameshift |
c.652G>A; p.V218M; 17:7674879-7674879 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.439delG; p.V147fs*23; 17:7675173-7675173 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.439delG; p.V147fs*23; 17:7675173-7675173 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.847C>G; p.R283G; 17:7673773-7673773 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.439delG; p.V147fs*23; 17:7675173-7675173 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.697_721del25; p.H233fs*6; 17:7674242-7674266 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.237T>C; p.A79A; 17:7676132-7676132 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.545_559+33del48; p.?; 17:7675020-7675067 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Unknown |
c.652G>A; p.V218M; 17:7674879-7674879 |
skin; leg | other; keratosis | Substitution - Missense |
c.559_563delGGTCT; p.L188fs*19; 17:7674968-7675053 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - Frameshift |
c.859G>T; p.E287*; 17:7673761-7673761 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.859G>T; p.E287*; 17:7673761-7673761 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.774A>T; p.E258D; 17:7674189-7674189 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.774A>T; p.E258D; 17:7674189-7674189 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.859G>T; p.E287*; 17:7673761-7673761 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.774A>T; p.E258D; 17:7674189-7674189 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.842A>T; p.D281V; 17:7673778-7673778 |
breast | carcinoma | Substitution - Missense |
c.847_848delCG; p.R283fs*22; 17:7673772-7673773 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.728_729TG>CA; p.M243T; 17:7674234-7674235 |
breast | carcinoma | Substitution - Missense |
c.394delA; p.K132fs*38; 17:7675218-7675218 |
cervix | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.774A>T; p.E258D; 17:7674189-7674189 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.859G>T; p.E287*; 17:7673761-7673761 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.859G>T; p.E287*; 17:7673761-7673761 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Nonsense |
c.686G>A; p.C229Y; 17:7674277-7674277 |
lung | carcinoid-endocrine_tumour | Substitution - Missense |
c.842A>T; p.D281V; 17:7673778-7673778 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.859G>T; p.E287*; 17:7673761-7673761 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.859G>T; p.E287*; 17:7673761-7673761 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.859G>T; p.E287*; 17:7673761-7673761 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.654_655insNNN; p.V218_P219insX; 17:7674876-7674877 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; Burkitt_lymphoma | Insertion - In frame |
c.253_268del16; p.A86fs*32; 17:7676101-7676116 |
upper_aerodigestive_tract; larynx | carcinoma | Deletion - Frameshift |
c.859G>T; p.E287*; 17:7673761-7673761 |
pancreas | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.774A>T; p.E258D; 17:7674189-7674189 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.774A>T; p.E258D; 17:7674189-7674189 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.685_699del15; p.C229_H233delCTTIH; 17:7674264-7674278 |
oesophagus | carcinoma; adenocarcinoma | Deletion - In frame |
c.774A>T; p.E258D; 17:7674189-7674189 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.774A>T; p.E258D; 17:7674189-7674189 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.859G>T; p.E287*; 17:7673761-7673761 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.394delA; p.K132fs*38; 17:7675218-7675218 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.859G>T; p.E287*; 17:7673761-7673761 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.774A>T; p.E258D; 17:7674189-7674189 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.842A>T; p.D281V; 17:7673778-7673778 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.603_604insN; p.R202fs*7; 17:7674927-7674928 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.708_709insNNNNNN; p.Y236_M237insXX; 17:7674254-7674255 |
breast | carcinoma | Insertion - In frame |
c.842A>T; p.D281V; 17:7673778-7673778 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.858A>T; p.E286D; 17:7673762-7673762 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.385_387delGCC; p.A129delA; 17:7675225-7675227 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - In frame |
c.685_699del15; p.C229_H233delCTTIH; 17:7674264-7674278 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.774A>T; p.E258D; 17:7674189-7674189 |
ovary | other; neoplasm | Substitution - Missense |
c.842A>T; p.D281V; 17:7673778-7673778 |
large_intestine | adenoma | Substitution - Missense |
c.859G>T; p.E287*; 17:7673761-7673761 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.794_795TG>CT; p.L265P; 17:7673825-7673826 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.774A>T; p.E258D; 17:7674189-7674189 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.774A>T; p.E258D; 17:7674189-7674189 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.859G>T; p.E287*; 17:7673761-7673761 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.859G>T; p.E287*; 17:7673761-7673761 |
lung | carcinoma; large_cell_carcinoma | Substitution - Nonsense |
c.331_333CTG>TC; p.L111fs*12; 17:7676036-7676038 |
lung | carcinoma; adenocarcinoma | Complex - frameshift |
c.686G>A; p.C229Y; 17:7674277-7674277 |
breast | carcinoma | Substitution - Missense |
c.737T>G; p.M246R; 17:7674226-7674226 |
haematopoietic_and_lymphoid_tissue; abdomen | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.796G>C; p.G266R; 17:7673824-7673824 |
breast | carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
breast | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.796G>C; p.G266R; 17:7673824-7673824 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
breast | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.687_688insNNN; p.C229_T230insX; 17:7674275-7674276 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Insertion - In frame |
c.747G>T; p.R249S; 17:7674216-7674216 |
breast | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.644G>T; p.S215I; 17:7674887-7674887 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.704A>T; p.N235I; 17:7674259-7674259 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.644G>T; p.S215I; 17:7674887-7674887 |
breast | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
breast | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.261_270del10; p.A88fs*32; 17:7676099-7676108 |
prostate | carcinoma | Deletion - Frameshift |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.704A>T; p.N235I; 17:7674259-7674259 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.644G>T; p.S215I; 17:7674887-7674887 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.796G>C; p.G266R; 17:7673824-7673824 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.706_707insN; p.Y236fs*4; 17:7674256-7674257 |
breast | carcinoma | Insertion - Frameshift |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
pancreas | carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
stomach | adenocarcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
bone | osteosarcoma | Substitution - Missense |
c.644G>T; p.S215I; 17:7674887-7674887 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.559+8G>A; p.?; 17:7675045-7675045 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Unknown |
c.796G>C; p.G266R; 17:7673824-7673824 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
breast | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.790delC; p.L264fs*81; 17:7673830-7673830 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.747G>T; p.R249S; 17:7674216-7674216 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
breast | carcinoma | Substitution - Missense |
c.967delC; p.L323fs*22; 17:7673561-7673561 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1010G>C; p.R337P; 17:7670699-7670699 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.790delC; p.L264fs*81; 17:7673830-7673830 |
ovary | carcinoma | Deletion - Frameshift |
c.387_398del12; p.L130_M133delLNKM; 17:7675214-7675225 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Deletion - In frame |
c.737T>G; p.M246R; 17:7674226-7674226 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.644G>T; p.S215I; 17:7674887-7674887 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
breast | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.644G>T; p.S215I; 17:7674887-7674887 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.357C>A; p.A119A; 17:7676012-7676012 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.746G>T; p.R249M; 17:7674217-7674217 |
pancreas | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
breast | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.796G>C; p.G266R; 17:7673824-7673824 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.644G>T; p.S215I; 17:7674887-7674887 |
ovary | other; neoplasm | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.877G>A; p.G293R; 17:7673743-7673743 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
pancreas | carcinoma | Substitution - Missense |
c.644G>T; p.S215I; 17:7674887-7674887 |
ovary | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.570T>G; p.P190P; 17:7674961-7674961 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.796G>C; p.G266R; 17:7673824-7673824 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.387_398del12; p.L130_M133delLNKM; 17:7675214-7675225 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Deletion - In frame |
c.747G>T; p.R249S; 17:7674216-7674216 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.877G>A; p.G293R; 17:7673743-7673743 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
breast | carcinoma | Substitution - Missense |
c.644G>T; p.S215I; 17:7674887-7674887 |
ovary | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
soft_tissue; fibrous_tissue_and_uncertain_o | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.644G>T; p.S215I; 17:7674887-7674887 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
ovary | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.737T>G; p.M246R; 17:7674226-7674226 |
breast | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.796G>C; p.G266R; 17:7673824-7673824 |
breast | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.253_266del14; p.P85fs*59; 17:7676103-7676116 |
ovary | other; neoplasm | Deletion - Frameshift |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.357C>A; p.A119A; 17:7676012-7676012 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.746G>T; p.R249M; 17:7674217-7674217 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
breast | carcinoma | Substitution - Missense |
c.468_469insGTC; p.V157_R158insV; 17:7675143-7675144 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Insertion - In frame |
c.747G>T; p.R249S; 17:7674216-7674216 |
salivary_gland; major | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.906G>C; p.G302G; 17:7673714-7673714 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.747G>T; p.R249S; 17:7674216-7674216 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.644G>T; p.S215I; 17:7674887-7674887 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.737T>G; p.M246R; 17:7674226-7674226 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
central_nervous_system; supratentorial | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
lung; lower_lobe | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.737T>G; p.M246R; 17:7674226-7674226 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.644G>T; p.S215I; 17:7674887-7674887 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.644G>T; p.S215I; 17:7674887-7674887 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
lung | carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.378_379ins12; p.Y126_S127insQPHH; 17:7675233-7675234 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Insertion - In frame |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
ovary | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
breast | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
oesophagus | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.877G>A; p.G293R; 17:7673743-7673743 |
ovary | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.737T>G; p.M246R; 17:7674226-7674226 |
oesophagus | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.796G>C; p.G266R; 17:7673824-7673824 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.704A>T; p.N235I; 17:7674259-7674259 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.644G>T; p.S215I; 17:7674887-7674887 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.47A>T; p.Q16L; 17:7676548-7676548 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.47A>T; p.Q16L; 17:7676548-7676548 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.915G>A; p.K305K; 17:7673705-7673705 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.644G>T; p.S215I; 17:7674887-7674887 |
kidney | carcinoma; chromophobe_renal_cell_carcinoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
breast | carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.796G>C; p.G266R; 17:7673824-7673824 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasmacytoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.796G>C; p.G266R; 17:7673824-7673824 |
ovary | carcinoma; mucinous_carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
breast | carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.737T>G; p.M246R; 17:7674226-7674226 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.796G>C; p.G266R; 17:7673824-7673824 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.47A>T; p.Q16L; 17:7676548-7676548 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.47A>T; p.Q16L; 17:7676548-7676548 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.796G>C; p.G266R; 17:7673824-7673824 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.644G>T; p.S215I; 17:7674887-7674887 |
lung; left_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
kidney | Wilms_tumour | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.644G>T; p.S215I; 17:7674887-7674887 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
pleura | mesothelioma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.644G>T; p.S215I; 17:7674887-7674887 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.981T>A; p.Y327*; 17:7673547-7673547 |
pancreas | carcinoma | Substitution - Nonsense |
c.746G>T; p.R249M; 17:7674217-7674217 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.790delC; p.L264fs*81; 17:7673830-7673830 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.989T>C; p.L330P; 17:7673539-7673539 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.737T>G; p.M246R; 17:7674226-7674226 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.981T>A; p.Y327*; 17:7673547-7673547 |
skin | malignant_melanoma | Substitution - Nonsense |
c.349G>C; p.G117R; 17:7676020-7676020 |
adrenal_gland; adrenal_gland | pheochromocytoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
ovary | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
pancreas | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.645_653delTGTGGTGGT; p.S215_V218>R; 17:7674878-7674886 |
large_intestine; colon | carcinoma; adenocarcinoma | Complex - deletion inframe |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.796G>C; p.G266R; 17:7673824-7673824 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
breast | carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
ovary | carcinoma | Substitution - Missense |
c.522G>C; p.R174S; 17:7675090-7675090 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.47A>T; p.Q16L; 17:7676548-7676548 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.291_325del35; p.Q100fs*37; 17:7676044-7676078 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.747G>T; p.R249S; 17:7674216-7674216 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.223C>T; p.P75S; 17:7676146-7676146 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
breast | carcinoma | Substitution - Missense |
c.796G>C; p.G266R; 17:7673824-7673824 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.777delC; p.S260fs*85; 17:7674186-7674186 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.737T>G; p.M246R; 17:7674226-7674226 |
breast | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.989T>C; p.L330P; 17:7673539-7673539 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.796G>C; p.G266R; 17:7673824-7673824 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.737T>G; p.M246R; 17:7674226-7674226 |
skin; trunk | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
large_intestine; colon | NS | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
breast | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | other; hepatoblastoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.877_911del35; p.G293fs*1; 17:7673709-7673743 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Deletion - Frameshift |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.644G>T; p.S215I; 17:7674887-7674887 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
prostate | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.737T>G; p.M246R; 17:7674226-7674226 |
skin | malignant_melanoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.737T>G; p.M246R; 17:7674226-7674226 |
breast | carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
ovary | other; neoplasm | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
prostate | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.187G>A; p.A63T; 17:7676182-7676182 |
salivary_gland; parotid | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
breast | carcinoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.877G>A; p.G293R; 17:7673743-7673743 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.236C>A; p.A79D; 17:7676133-7676133 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
breast | carcinoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.906G>C; p.G302G; 17:7673714-7673714 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.467G>C; p.R156P; 17:7675145-7675145 |
breast | carcinoma | Substitution - Missense |
c.644G>T; p.S215I; 17:7674887-7674887 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.711G>T; p.M237I; 17:7674252-7674252 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
ovary | carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.704A>T; p.N235I; 17:7674259-7674259 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.47A>T; p.Q16L; 17:7676548-7676548 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.R249S; 17:7674216-7674216 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.746G>T; p.R249M; 17:7674217-7674217 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
thyroid | carcinoma; papillary_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
breast | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
ovary | carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.790_792delCTA; p.L265delL; 17:7673828-7673830 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Deletion - In frame |
c.973_975GGA>NNNNNNNNNNN; p.G325fs*23; 17:7673553-7673555 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Complex - frameshift |
c.536A>G; p.H179R; 17:7675076-7675076 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
upper_aerodigestive_tract; head_neck | carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.326T>C; p.F109S; 17:7676043-7676043 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
oesophagus | carcinoma | Substitution - Missense |
c.822_853del32; p.C275fs*20; 17:7673767-7673798 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.536A>G; p.H179R; 17:7675076-7675076 |
haematopoietic_and_lymphoid_tissue; skin | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
ovary | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
oesophagus | carcinoma | Substitution - Missense |
c.415delA; p.K139fs*31; 17:7675197-7675197 |
urinary_tract | carcinoma | Deletion - Frameshift |
c.536A>G; p.H179R; 17:7675076-7675076 |
breast | carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.322G>A; p.G108S; 17:7676047-7676047 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
breast | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
central_nervous_system; brain | other; choroid_plexus_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
ovary | other; neoplasm | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
oesophagus | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
breast | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
central_nervous_system; parietal_lobe | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
central_nervous_system; frontal_lobe | glioma; astrocytoma | Substitution - Missense |
c.790_792delCTA; p.L265delL; 17:7673828-7673830 |
breast | carcinoma | Deletion - In frame |
c.749C>T; p.P250L; 17:7674214-7674214 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
oesophagus | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.326T>C; p.F109S; 17:7676043-7676043 |
skin; face | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
breast | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
breast | carcinoma | Substitution - Missense |
c.463_483del21; p.T155_A161delTRVRAMA; 17:7675129-7675149 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - In frame |
c.578A>T; p.H193L; 17:7674953-7674953 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
endometrium | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
ovary | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
breast | carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
skin; head_neck | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
ovary | carcinoma | Substitution - Missense |
c.322G>A; p.G108S; 17:7676047-7676047 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
pancreas | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
ovary | other; neoplasm | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.695_696insTGG; p.I232_H233insG; 17:7674267-7674268 |
NS | NS | Insertion - In frame |
c.902C>A; p.P301Q; 17:7673718-7673718 |
breast | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
pancreas | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
ovary | carcinoma; mixed_carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia | Substitution - Missense |
c.467G>T; p.R156L; 17:7675145-7675145 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.790_792delCTA; p.L265delL; 17:7673828-7673830 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.749C>T; p.P250L; 17:7674214-7674214 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
breast | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
breast | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
ovary | other; neoplasm | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
ovary | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
breast | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_myelodysplastic_syndrome_therapy_related_NOS | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
oesophagus | carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
breast | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.790_792delCTA; p.L265delL; 17:7673828-7673830 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.578A>T; p.H193L; 17:7674953-7674953 |
breast | carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
breast | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
breast | carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
lung | carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
central_nervous_system; parietal_lobe | glioma; astrocytoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
haematopoietic_and_lymphoid_tissue; stomach | lymphoid_neoplasm | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
oesophagus | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
breast | other; neoplasm | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
breast | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.322G>A; p.G108S; 17:7676047-7676047 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
ovary | carcinoma | Substitution - Missense |
c.696_697insN; p.H233fs*7; 17:7674266-7674267 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.536A>G; p.H179R; 17:7675076-7675076 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
breast | carcinoma | Substitution - Missense |
c.817_819CGT>TCG; p.R273S; 17:7673801-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
breast | carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
breast | carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
breast | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
central_nervous_system; parietal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.415delA; p.K139fs*31; 17:7675197-7675197 |
breast | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.536A>G; p.H179R; 17:7675076-7675076 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
breast | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
prostate | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
breast | carcinoma | Substitution - Missense |
c.467G>T; p.R156L; 17:7675145-7675145 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.790C>G; p.L264V; 17:7673830-7673830 |
breast | carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
lung; lower_lobe | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.322G>A; p.G108S; 17:7676047-7676047 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
breast | carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.467G>T; p.R156L; 17:7675145-7675145 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 17:7674214-7674214 |
pancreas | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.625_639del15; p.R209_R213delRNTFR; 17:7674892-7674906 |
oesophagus | carcinoma; adenocarcinoma | Deletion - In frame |
c.578A>T; p.H193L; 17:7674953-7674953 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
breast | carcinoma | Substitution - Missense |
c.578A>T; p.H193L; 17:7674953-7674953 |
pancreas | carcinoma | Substitution - Missense |
c.536A>G; p.H179R; 17:7675076-7675076 |
breast | carcinoma | Substitution - Missense |
c.733G>C; p.G245R; 17:7674230-7674230 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.571_576delCCTCAG; p.P191_Q192delPQ; 17:7674955-7674960 |
breast | carcinoma; ductal_carcinoma | Deletion - In frame |
c.815T>C; p.V272A; 17:7673805-7673805 |
stomach | carcinoma | Substitution - Missense |
c.733G>C; p.G245R; 17:7674230-7674230 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.625A>T; p.R209*; 17:7674906-7674906 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.625A>T; p.R209*; 17:7674906-7674906 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.544T>A; p.C182S; 17:7675068-7675068 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.933C>G; p.N311K; 17:7673595-7673595 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.815T>C; p.V272A; 17:7673805-7673805 |
central_nervous_system; cerebellum | other; central_neurocytoma | Substitution - Missense |
c.544T>A; p.C182S; 17:7675068-7675068 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>C; p.G245R; 17:7674230-7674230 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.544T>A; p.C182S; 17:7675068-7675068 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.733G>C; p.G245R; 17:7674230-7674230 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.159G>A; p.W53*; 17:7676210-7676210 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Nonsense |
c.625A>T; p.R209*; 17:7674906-7674906 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.159G>A; p.W53*; 17:7676210-7676210 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.683A>C; p.D228A; 17:7674280-7674280 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>C; p.G245R; 17:7674230-7674230 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.683A>C; p.D228A; 17:7674280-7674280 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.516_517insN; p.V173fs*8; 17:7675095-7675096 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Insertion - Frameshift |
c.159G>A; p.W53*; 17:7676210-7676210 |
ovary | carcinoma | Substitution - Nonsense |
c.159G>A; p.W53*; 17:7676210-7676210 |
oesophagus | carcinoma | Substitution - Nonsense |
c.733G>C; p.G245R; 17:7674230-7674230 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.733G>C; p.G245R; 17:7674230-7674230 |
NS | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.625A>T; p.R209*; 17:7674906-7674906 |
breast | carcinoma | Substitution - Nonsense |
c.544T>A; p.C182S; 17:7675068-7675068 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.435G>C; p.L145L; 17:7675177-7675177 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.159G>A; p.W53*; 17:7676210-7676210 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.815T>C; p.V272A; 17:7673805-7673805 |
soft_tissue; fibrous_tissue_and_uncertain_o | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | Substitution - Missense |
c.733G>C; p.G245R; 17:7674230-7674230 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.645_646insNN; p.V216fs*32; 17:7674885-7674886 |
breast | carcinoma | Insertion - Frameshift |
c.733G>C; p.G245R; 17:7674230-7674230 |
liver | carcinoma | Substitution - Missense |
c.865delC; p.L289fs*56; 17:7673755-7673755 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.865C>G; p.L289V; 17:7673755-7673755 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>C; p.G245R; 17:7674230-7674230 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.159G>A; p.W53*; 17:7676210-7676210 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.159G>A; p.W53*; 17:7676210-7676210 |
ovary | carcinoma | Substitution - Nonsense |
c.544T>A; p.C182S; 17:7675068-7675068 |
salivary_gland; major | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.733G>C; p.G245R; 17:7674230-7674230 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.159G>A; p.W53*; 17:7676210-7676210 |
pancreas | carcinoma | Substitution - Nonsense |
c.544T>A; p.C182S; 17:7675068-7675068 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.625A>T; p.R209*; 17:7674906-7674906 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Nonsense |
c.359A>T; p.K120M; 17:7676010-7676010 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.742C>A; p.R248R; 17:7674221-7674221 |
prostate | in_situ_neoplasm; glandular_intraepithelial_neoplasia_Grade_III | Substitution - coding silent |
c.559+2T>A; p.?; 17:7675051-7675051 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.159G>A; p.W53*; 17:7676210-7676210 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.815T>C; p.V272A; 17:7673805-7673805 |
pancreas | carcinoma | Substitution - Missense |
c.815T>C; p.V272A; 17:7673805-7673805 |
breast | carcinoma | Substitution - Missense |
c.791_793delTAC; p.L265delL; 17:7673827-7673829 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.544T>A; p.C182S; 17:7675068-7675068 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.625A>T; p.R209*; 17:7674906-7674906 |
oesophagus | carcinoma | Substitution - Nonsense |
c.448_460del13; p.T150fs*16; 17:7675152-7675164 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.159G>A; p.W53*; 17:7676210-7676210 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.625A>T; p.R209*; 17:7674906-7674906 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.870C>A; p.R290R; 17:7673750-7673750 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.733G>C; p.G245R; 17:7674230-7674230 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.159G>A; p.W53*; 17:7676210-7676210 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.625A>T; p.R209*; 17:7674906-7674906 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.625A>T; p.R209*; 17:7674906-7674906 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.870C>A; p.R290R; 17:7673750-7673750 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.559+2T>A; p.?; 17:7675051-7675051 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.733G>C; p.G245R; 17:7674230-7674230 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.591G>A; p.V197V; 17:7674940-7674940 |
breast | carcinoma | Substitution - coding silent |
c.625A>T; p.R209*; 17:7674906-7674906 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.159G>A; p.W53*; 17:7676210-7676210 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.159G>A; p.W53*; 17:7676210-7676210 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.733G>C; p.G245R; 17:7674230-7674230 |
large_intestine; colon | adenoma | Substitution - Missense |
c.625A>T; p.R209*; 17:7674906-7674906 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.359A>T; p.K120M; 17:7676010-7676010 |
soft_tissue | sarcoma | Substitution - Missense |
c.815T>C; p.V272A; 17:7673805-7673805 |
endometrium | carcinoma | Substitution - Missense |
c.359A>T; p.K120M; 17:7676010-7676010 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.159G>A; p.W53*; 17:7676210-7676210 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.902_903insG; p.G302fs*4; 17:7673717-7673718 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.625A>T; p.R209*; 17:7674906-7674906 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.591G>A; p.V197V; 17:7674940-7674940 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; MALT_lymphoma | Substitution - coding silent |
c.902_903insG; p.G302fs*4; 17:7673717-7673718 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.159G>A; p.W53*; 17:7676210-7676210 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.359A>T; p.K120M; 17:7676010-7676010 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.742C>A; p.R248R; 17:7674221-7674221 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.733G>C; p.G245R; 17:7674230-7674230 |
liver | carcinoma | Substitution - Missense |
c.625A>T; p.R209*; 17:7674906-7674906 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.359A>T; p.K120M; 17:7676010-7676010 |
central_nervous_system; brain | glioma; astrocytoma_Grade_I | Substitution - Missense |
c.733G>C; p.G245R; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.359A>T; p.K120M; 17:7676010-7676010 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.815T>C; p.V272A; 17:7673805-7673805 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.359A>T; p.K120M; 17:7676010-7676010 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.625A>T; p.R209*; 17:7674906-7674906 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.192_193insC; p.R65fs*84; 17:7676176-7676177 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.656_657CC>TT; p.P219L; 17:7674874-7674875 |
skin; face | other; hyperplasia | Substitution - Missense |
c.672+1G>A; p.?; 17:7674858-7674858 |
large_intestine | carcinoma; adenocarcinoma | Unknown |
c.158G>A; p.W53*; 17:7676211-7676211 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.672+1G>A; p.?; 17:7674858-7674858 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.962_963insGAA; p.K321_P322insK; 17:7673565-7673566 |
liver | carcinoma; hepatocellular_carcinoma | Insertion - In frame |
c.524G>C; p.R175P; 17:7675088-7675088 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.993G>T; p.Q331H; 17:7673535-7673535 |
pancreas | carcinoma | Substitution - Missense |
c.672+1G>A; p.?; 17:7674858-7674858 |
upper_aerodigestive_tract; head_neck | carcinoma | Unknown |
c.672+1G>A; p.?; 17:7674858-7674858 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.672+1G>A; p.?; 17:7674858-7674858 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.801G>C; p.R267R; 17:7673819-7673819 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm | Substitution - coding silent |
c.524G>C; p.R175P; 17:7675088-7675088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>G; p.R273G; 17:7673803-7673803 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.672+25G>C; p.?; 17:7674834-7674834 |
pancreas | other; normal | Unknown |
c.469G>A; p.V157I; 17:7675143-7675143 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - Missense |
c.672+1G>A; p.?; 17:7674858-7674858 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.823T>C; p.C275R; 17:7673797-7673797 |
oesophagus | carcinoma | Substitution - Missense |
c.672+1G>A; p.?; 17:7674858-7674858 |
pancreas | carcinoma | Unknown |
c.783-2A>T; p.?; 17:7673839-7673839 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.469G>A; p.V157I; 17:7675143-7675143 |
salivary_gland; maxilla | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.469G>A; p.V157I; 17:7675143-7675143 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.817C>G; p.R273G; 17:7673803-7673803 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.375+1G>A; p.?; 17:7675993-7675993 |
large_intestine; rectum | carcinoma; adenocarcinoma | Unknown |
c.783-2A>T; p.?; 17:7673839-7673839 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.375+1G>A; p.?; 17:7675993-7675993 |
breast | carcinoma | Unknown |
c.193_194insA; p.R65fs*84; 17:7676175-7676176 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.672+1G>A; p.?; 17:7674858-7674858 |
ovary | carcinoma; endometrioid_carcinoma | Unknown |
c.375+1G>A; p.?; 17:7675993-7675993 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Unknown |
c.817C>G; p.R273G; 17:7673803-7673803 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.664C>A; p.P222T; 17:7674867-7674867 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.823T>C; p.C275R; 17:7673797-7673797 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.993G>T; p.Q331H; 17:7673535-7673535 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.375+1G>A; p.?; 17:7675993-7675993 |
soft_tissue; blood_vessel | angiosarcoma | Unknown |
c.823T>C; p.C275R; 17:7673797-7673797 |
small_intestine; ileum | carcinoma; adenocarcinoma | Substitution - Missense |
c.466_472delCGCGTCC; p.R156fs*12; 17:7675140-7675146 |
breast | carcinoma | Deletion - Frameshift |
c.817C>G; p.R273G; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.469G>A; p.V157I; 17:7675143-7675143 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.531C>G; p.P177P; 17:7675081-7675081 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.524G>C; p.R175P; 17:7675088-7675088 |
lung | carcinoma | Substitution - Missense |
c.158G>A; p.W53*; 17:7676211-7676211 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.783-2A>T; p.?; 17:7673839-7673839 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Unknown |
c.158G>A; p.W53*; 17:7676211-7676211 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.672+1G>A; p.?; 17:7674858-7674858 |
central_nervous_system; brain | glioma | Unknown |
c.375+1G>A; p.?; 17:7675993-7675993 |
skin | carcinoma; basal_cell_carcinoma | Unknown |
c.672+1G>A; p.?; 17:7674858-7674858 |
skin | carcinoma; squamous_cell_carcinoma | Unknown |
c.158G>A; p.W53*; 17:7676211-7676211 |
pancreas | carcinoma | Substitution - Nonsense |
c.469G>A; p.V157I; 17:7675143-7675143 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.158G>A; p.W53*; 17:7676211-7676211 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.672+1G>A; p.?; 17:7674858-7674858 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.322_324delGGT; p.G108delG; 17:7676045-7676047 |
breast | carcinoma; ductal_carcinoma | Deletion - In frame |
c.322_324delGGT; p.G108delG; 17:7676045-7676047 |
breast | carcinoma; ductal_carcinoma | Deletion - In frame |
c.375+1G>A; p.?; 17:7675993-7675993 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.817C>G; p.R273G; 17:7673803-7673803 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.375+1G>A; p.?; 17:7675993-7675993 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.813G>C; p.E271D; 17:7673807-7673807 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.664C>A; p.P222T; 17:7674867-7674867 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.346T>C; p.S116P; 17:7676023-7676023 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.457C>A; p.P153T; 17:7675155-7675155 |
stomach | carcinoma | Substitution - Missense |
c.322_324delGGT; p.G108delG; 17:7676045-7676047 |
breast | carcinoma; ductal_carcinoma | Deletion - In frame |
c.322_324delGGT; p.G108delG; 17:7676045-7676047 |
breast | carcinoma; ductal_carcinoma | Deletion - In frame |
c.672+1G>A; p.?; 17:7674858-7674858 |
ovary | carcinoma; endometrioid_carcinoma | Unknown |
c.466_472delCGCGTCC; p.R156fs*12; 17:7675140-7675146 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.375+1G>A; p.?; 17:7675993-7675993 |
central_nervous_system; brain | glioma | Unknown |
c.823T>C; p.C275R; 17:7673797-7673797 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.682delG; p.D228fs*19; 17:7674281-7674281 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.158G>A; p.W53*; 17:7676211-7676211 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.524G>C; p.R175P; 17:7675088-7675088 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.672+1G>A; p.?; 17:7674858-7674858 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Unknown |
c.817C>G; p.R273G; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.375+1G>A; p.?; 17:7675993-7675993 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.823T>C; p.C275R; 17:7673797-7673797 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.672+1G>A; p.?; 17:7674858-7674858 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.823T>C; p.C275R; 17:7673797-7673797 |
stomach | carcinoma; signet_ring_adenocarcinoma | Substitution - Missense |
c.672+1G>A; p.?; 17:7674858-7674858 |
ovary | carcinoma; mixed_carcinoma | Unknown |
c.469G>A; p.V157I; 17:7675143-7675143 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.672+1G>A; p.?; 17:7674858-7674858 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.664C>A; p.P222T; 17:7674867-7674867 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.993G>T; p.Q331H; 17:7673535-7673535 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.672+25G>C; p.?; 17:7674834-7674834 |
pancreas | other; normal | Unknown |
c.457C>A; p.P153T; 17:7675155-7675155 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.158G>A; p.W53*; 17:7676211-7676211 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.817C>G; p.R273G; 17:7673803-7673803 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.375+1G>A; p.?; 17:7675993-7675993 |
breast | carcinoma | Unknown |
c.817C>G; p.R273G; 17:7673803-7673803 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.866delT; p.L289fs*56; 17:7673754-7673754 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.469G>A; p.V157I; 17:7675143-7675143 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.823T>C; p.C275R; 17:7673797-7673797 |
oesophagus | other; normal | Substitution - Missense |
c.375+1G>A; p.?; 17:7675993-7675993 |
stomach | carcinoma; diffuse_adenocarcinoma | Unknown |
c.469G>A; p.V157I; 17:7675143-7675143 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.817C>G; p.R273G; 17:7673803-7673803 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.672+1G>A; p.?; 17:7674858-7674858 |
skin | malignant_melanoma | Unknown |
c.783-2A>T; p.?; 17:7673839-7673839 |
stomach | carcinoma; intestinal_adenocarcinoma | Unknown |
c.672+1G>A; p.?; 17:7674858-7674858 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.375+1G>A; p.?; 17:7675993-7675993 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.524G>C; p.R175P; 17:7675088-7675088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.322_324delGGT; p.G108delG; 17:7676045-7676047 |
breast | carcinoma; ductal_carcinoma | Deletion - In frame |
c.469G>A; p.V157I; 17:7675143-7675143 |
skin | malignant_melanoma | Substitution - Missense |
c.813G>C; p.E271D; 17:7673807-7673807 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.375+1G>A; p.?; 17:7675993-7675993 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.817C>G; p.R273G; 17:7673803-7673803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.644_652delGTGTGGTGG; p.S215_V218>M; 17:7674879-7674887 |
large_intestine; colon | carcinoma; adenocarcinoma | Complex - deletion inframe |
c.531C>G; p.P177P; 17:7675081-7675081 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.672+1G>A; p.?; 17:7674858-7674858 |
cervix | carcinoma; endometrioid_adenocarcinoma | Unknown |
c.817C>G; p.R273G; 17:7673803-7673803 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.469G>A; p.V157I; 17:7675143-7675143 |
prostate | carcinoma | Substitution - Missense |
c.524G>C; p.R175P; 17:7675088-7675088 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.457C>A; p.P153T; 17:7675155-7675155 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.993G>T; p.Q331H; 17:7673535-7673535 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.823T>C; p.C275R; 17:7673797-7673797 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.158G>A; p.W53*; 17:7676211-7676211 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.817C>G; p.R273G; 17:7673803-7673803 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.993G>T; p.Q331H; 17:7673535-7673535 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.672+1G>A; p.?; 17:7674858-7674858 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Unknown |
c.672+1G>A; p.?; 17:7674858-7674858 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.672+1G>A; p.?; 17:7674858-7674858 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.720_721insNN; p.S241fs*7; 17:7674242-7674243 |
thyroid | carcinoma | Insertion - Frameshift |
c.375+1G>A; p.?; 17:7675993-7675993 |
urinary_tract; bladder | carcinoma | Unknown |
c.823T>C; p.C275R; 17:7673797-7673797 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.920-2A>T; p.?; 17:7673610-7673610 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.422G>A; p.C141Y; 17:7675190-7675190 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.503A>C; p.H168P; 17:7675109-7675109 |
ovary | other; neoplasm | Substitution - Missense |
c.503A>C; p.H168P; 17:7675109-7675109 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.526delT; p.C176fs*71; 17:7675086-7675086 |
stomach | carcinoma; tubular_adenocarcinoma | Deletion - Frameshift |
c.920-2A>T; p.?; 17:7673610-7673610 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.709A>G; p.M237V; 17:7674254-7674254 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.709A>G; p.M237V; 17:7674254-7674254 |
liver | carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
ovary | carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.526delT; p.C176fs*71; 17:7675086-7675086 |
oesophagus | carcinoma | Deletion - Frameshift |
c.709A>G; p.M237V; 17:7674254-7674254 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.666G>A; p.P222P; 17:7674865-7674865 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.560-17_560-6delTCACTGATTGCT; p.?; 17:7674977-7674988 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.408A>C; p.Q136H; 17:7675204-7675204 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.503A>C; p.H168P; 17:7675109-7675109 |
ovary | carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.408A>C; p.Q136H; 17:7675204-7675204 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.548_559+15del27; p.?; 17:7675038-7675064 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.526delT; p.C176fs*71; 17:7675086-7675086 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.422G>A; p.C141Y; 17:7675190-7675190 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
breast | carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.920-2A>T; p.?; 17:7673610-7673610 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.709A>G; p.M237V; 17:7674254-7674254 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
breast | carcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
breast | carcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.726C>T; p.C242C; 17:7674237-7674237 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - coding silent |
c.726C>T; p.C242C; 17:7674237-7674237 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.422G>A; p.C141Y; 17:7675190-7675190 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.503A>C; p.H168P; 17:7675109-7675109 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
breast | carcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.709A>G; p.M237V; 17:7674254-7674254 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
prostate | carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.709A>G; p.M237V; 17:7674254-7674254 |
liver | carcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.197T>G; p.M66R; 17:7676172-7676172 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
pancreas | carcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.700_702delTAC; p.Y234delY; 17:7674261-7674263 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - In frame |
c.700_702delTAC; p.Y234delY; 17:7674261-7674263 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.422G>A; p.C141Y; 17:7675190-7675190 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
pancreas | carcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
breast | carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.709A>G; p.M237V; 17:7674254-7674254 |
breast | carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.503A>C; p.H168P; 17:7675109-7675109 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
ovary | carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
oesophagus | carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.503A>C; p.H168P; 17:7675109-7675109 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
ovary | carcinoma | Substitution - Missense |
c.408A>C; p.Q136H; 17:7675204-7675204 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
breast | carcinoma | Substitution - Missense |
c.526delT; p.C176fs*71; 17:7675086-7675086 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Deletion - Frameshift |
c.422G>A; p.C141Y; 17:7675190-7675190 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
breast | carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
testis | germ_cell_tumour; seminoma | Substitution - Missense |
c.408A>C; p.Q136H; 17:7675204-7675204 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.702_703insNNN; p.Y234_N235insX; 17:7674260-7674261 |
breast | carcinoma | Insertion - In frame |
c.396G>C; p.K132N; 17:7675216-7675216 |
penis | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.526delT; p.C176fs*71; 17:7675086-7675086 |
breast | carcinoma | Deletion - Frameshift |
c.422G>A; p.C141Y; 17:7675190-7675190 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.474_475insNNNNNN; p.R158_A159insXX; 17:7675137-7675138 |
breast | carcinoma | Insertion - In frame |
c.646_647delGT; p.V216fs*5; 17:7674884-7674885 |
breast | carcinoma | Deletion - Frameshift |
c.422G>A; p.C141Y; 17:7675190-7675190 |
breast | carcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.709A>G; p.M237V; 17:7674254-7674254 |
breast | carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
breast | carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
oesophagus | carcinoma | Substitution - Missense |
c.503A>C; p.H168P; 17:7675109-7675109 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.503A>C; p.H168P; 17:7675109-7675109 |
breast | carcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.594_595ins63; p.E198_G199ins21; 17:7674936-7674937 |
soft_tissue; fibrous_tissue_and_uncertain_o | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | Insertion - In frame |
c.396G>C; p.K132N; 17:7675216-7675216 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.920-2A>T; p.?; 17:7673610-7673610 |
urinary_tract; bladder | carcinoma | Unknown |
c.422G>A; p.C141Y; 17:7675190-7675190 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
ovary | carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
oesophagus | carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
ovary | carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.408A>C; p.Q136H; 17:7675204-7675204 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; anaplastic_large_cell_lymphoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
breast | carcinoma | Substitution - Missense |
c.700_702delTAC; p.Y234delY; 17:7674261-7674263 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.422G>A; p.C141Y; 17:7675190-7675190 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.920-2A>T; p.?; 17:7673610-7673610 |
liver | carcinoma | Unknown |
c.422G>A; p.C141Y; 17:7675190-7675190 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.920-2A>T; p.?; 17:7673610-7673610 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.422G>A; p.C141Y; 17:7675190-7675190 |
soft_tissue; fibrous_tissue_and_uncertain_o | synovial_sarcoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
breast | carcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.503A>C; p.H168P; 17:7675109-7675109 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
breast | carcinoma | Substitution - Missense |
c.749_757delCCATCCTCA; p.L252_I254delLTI; 17:7674206-7674214 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Deletion - In frame |
c.422G>A; p.C141Y; 17:7675190-7675190 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.700_702delTAC; p.Y234delY; 17:7674261-7674263 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.396G>C; p.K132N; 17:7675216-7675216 |
breast | carcinoma | Substitution - Missense |
c.503A>C; p.H168P; 17:7675109-7675109 |
breast | carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.569_750del750; p.?; 17:7674213-7674962 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Unknown |
c.422G>A; p.C141Y; 17:7675190-7675190 |
breast | carcinoma | Substitution - Missense |
c.920-2A>T; p.?; 17:7673610-7673610 |
urinary_tract; bladder | carcinoma | Unknown |
c.526delT; p.C176fs*71; 17:7675086-7675086 |
lung | carcinoma | Deletion - Frameshift |
c.422G>A; p.C141Y; 17:7675190-7675190 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.709A>G; p.M237V; 17:7674254-7674254 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.920-2A>T; p.?; 17:7673610-7673610 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.503A>C; p.H168P; 17:7675109-7675109 |
breast | carcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.503A>C; p.H168P; 17:7675109-7675109 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.920-2A>T; p.?; 17:7673610-7673610 |
liver | carcinoma | Unknown |
c.396G>C; p.K132N; 17:7675216-7675216 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.934A>T; p.T312S; 17:7673594-7673594 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.709A>G; p.M237V; 17:7674254-7674254 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.396G>C; p.K132N; 17:7675216-7675216 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
central_nervous_system; brain | glioma; oligodendroglioma | Substitution - Missense |
c.422G>A; p.C141Y; 17:7675190-7675190 |
breast | carcinoma | Substitution - Missense |
c.526delT; p.C176fs*71; 17:7675086-7675086 |
breast | carcinoma | Deletion - Frameshift |
c.907delA; p.S303fs*42; 17:7673713-7673713 |
breast | carcinoma | Deletion - Frameshift |
c.422G>A; p.C141Y; 17:7675190-7675190 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.618G>A; p.L206L; 17:7674913-7674913 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - coding silent |
c.711G>A; p.M237I; 17:7674252-7674252 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.292_295delCCTT; p.S99fs*23; 17:7676074-7676077 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.542G>C; p.R181P; 17:7675070-7675070 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
ovary | other; neoplasm | Substitution - Missense |
c.658T>A; p.Y220N; 17:7674873-7674873 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.291_295delCCCTT; p.S99fs*48; 17:7676074-7676078 |
pancreas | NS | Deletion - Frameshift |
c.626G>A; p.R209K; 17:7674905-7674905 |
skin | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
breast | carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
breast | hyperplasia | Substitution - Missense |
c.739A>G; p.N247D; 17:7674224-7674224 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
stomach | adenocarcinoma | Substitution - Missense |
c.565G>C; p.A189P; 17:7674966-7674966 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Missense |
c.542G>C; p.R181P; 17:7675070-7675070 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.754C>T; p.L252F; 17:7674209-7674209 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.754C>T; p.L252F; 17:7674209-7674209 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.580C>G; p.L194V; 17:7674951-7674951 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
breast | carcinoma | Substitution - Missense |
c.739A>G; p.N247D; 17:7674224-7674224 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.732C>G; p.G244G; 17:7674231-7674231 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.838A>T; p.R280*; 17:7673782-7673782 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.253_254delCC; p.P85fs*63; 17:7676115-7676116 |
breast | carcinoma | Deletion - Frameshift |
c.695T>C; p.I232T; 17:7674268-7674268 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.838A>T; p.R280*; 17:7673782-7673782 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.711G>A; p.M237I; 17:7674252-7674252 |
oesophagus | carcinoma | Substitution - Missense |
c.375G>T; p.T125T; 17:7675994-7675994 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.658T>A; p.Y220N; 17:7674873-7674873 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.542G>C; p.R181P; 17:7675070-7675070 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.626G>A; p.R209K; 17:7674905-7674905 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.658T>G; p.Y220D; 17:7674873-7674873 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.427G>T; p.V143L; 17:7675185-7675185 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.358A>G; p.K120E; 17:7676011-7676011 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.754C>T; p.L252F; 17:7674209-7674209 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.952C>G; p.P318A; 17:7673576-7673576 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
testis | germ_cell_tumour; seminoma | Substitution - Missense |
c.358A>G; p.K120E; 17:7676011-7676011 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.695T>C; p.I232T; 17:7674268-7674268 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
breast | carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.838A>T; p.R280*; 17:7673782-7673782 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.432G>C; p.Q144H; 17:7675180-7675180 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.739A>G; p.N247D; 17:7674224-7674224 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
central_nervous_system; cerebellum | other; central_neurocytoma | Substitution - Missense |
c.358A>G; p.K120E; 17:7676011-7676011 |
ovary | carcinoma; mucinous_carcinoma | Substitution - Missense |
c.542G>C; p.R181P; 17:7675070-7675070 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.375G>T; p.T125T; 17:7675994-7675994 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.395A>C; p.K132T; 17:7675217-7675217 |
breast | carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
breast | carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
breast | carcinoma | Substitution - Missense |
c.375G>T; p.T125T; 17:7675994-7675994 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.732C>G; p.G244G; 17:7674231-7674231 |
breast | carcinoma | Substitution - coding silent |
c.375G>T; p.T125T; 17:7675994-7675994 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.395A>C; p.K132T; 17:7675217-7675217 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.658T>A; p.Y220N; 17:7674873-7674873 |
skin; face | other; keratosis | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.658T>A; p.Y220N; 17:7674873-7674873 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.658T>A; p.Y220N; 17:7674873-7674873 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.375G>T; p.T125T; 17:7675994-7675994 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.375G>T; p.T125T; 17:7675994-7675994 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.695T>C; p.I232T; 17:7674268-7674268 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
pancreas | carcinoma | Substitution - Missense |
c.695T>C; p.I232T; 17:7674268-7674268 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
central_nervous_system; occipital_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.838A>T; p.R280*; 17:7673782-7673782 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.395A>C; p.K132T; 17:7675217-7675217 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.672+5G>A; p.?; 17:7674854-7674854 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Unknown |
c.711G>A; p.M237I; 17:7674252-7674252 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.838A>T; p.R280*; 17:7673782-7673782 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Nonsense |
c.661G>A; p.E221K; 17:7674870-7674870 |
vulva | carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
breast | carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
ovary | other; neoplasm | Substitution - Missense |
c.358A>G; p.K120E; 17:7676011-7676011 |
breast | carcinoma | Substitution - Missense |
c.375G>T; p.T125T; 17:7675994-7675994 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.658T>G; p.Y220D; 17:7674873-7674873 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.658T>A; p.Y220N; 17:7674873-7674873 |
stomach | carcinoma; mucinous_adenocarcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
ovary | other; neoplasm | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
breast | carcinoma | Substitution - Missense |
c.375G>T; p.T125T; 17:7675994-7675994 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.375G>T; p.T125T; 17:7675994-7675994 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.711G>A; p.M237I; 17:7674252-7674252 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.375G>T; p.T125T; 17:7675994-7675994 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.711G>A; p.M237I; 17:7674252-7674252 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.542G>C; p.R181P; 17:7675070-7675070 |
breast | carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.626G>A; p.R209K; 17:7674905-7674905 |
lung | carcinoma; pleomorphic_carcinoma | Substitution - Missense |
c.395A>C; p.K132T; 17:7675217-7675217 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
breast | carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
ovary | other; neoplasm | Substitution - Missense |
c.661G>A; p.E221K; 17:7674870-7674870 |
salivary_gland; parotid | carcinoma; mucoepidermoid_carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
ovary | other; neoplasm | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
ovary | carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
pancreas | carcinoma | Substitution - Missense |
c.395A>C; p.K132T; 17:7675217-7675217 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.427G>T; p.V143L; 17:7675185-7675185 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
ovary | carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.542G>C; p.R181P; 17:7675070-7675070 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
thyroid | carcinoma; papillary_carcinoma | Substitution - Missense |
c.695T>C; p.I232T; 17:7674268-7674268 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.695T>C; p.I232T; 17:7674268-7674268 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.694delA; p.I232fs*15; 17:7674269-7674269 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - Frameshift |
c.711G>A; p.M237I; 17:7674252-7674252 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.658T>A; p.Y220N; 17:7674873-7674873 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
ovary | carcinoma | Substitution - Missense |
c.395A>C; p.K132T; 17:7675217-7675217 |
pancreas | carcinoma | Substitution - Missense |
c.375G>T; p.T125T; 17:7675994-7675994 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.658T>A; p.Y220N; 17:7674873-7674873 |
liver | carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.375G>T; p.T125T; 17:7675994-7675994 |
bone; femur | chondrosarcoma | Substitution - coding silent |
c.695T>C; p.I232T; 17:7674268-7674268 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.626G>A; p.R209K; 17:7674905-7674905 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.754C>T; p.L252F; 17:7674209-7674209 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.687T>A; p.C229*; 17:7674276-7674276 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.626G>A; p.R209K; 17:7674905-7674905 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.695T>C; p.I232T; 17:7674268-7674268 |
thymus | thymoma | Substitution - Missense |
c.542G>C; p.R181P; 17:7675070-7675070 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.754C>T; p.L252F; 17:7674209-7674209 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.846_847insT; p.R283fs*23; 17:7673773-7673774 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Insertion - Frameshift |
c.780_781insNNN; p.S260_S261insX; 17:7674182-7674183 |
pancreas | carcinoma | Insertion - In frame |
c.711G>A; p.M237I; 17:7674252-7674252 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.358A>G; p.K120E; 17:7676011-7676011 |
skin | malignant_melanoma | Substitution - Missense |
c.658T>A; p.Y220N; 17:7674873-7674873 |
breast | carcinoma | Substitution - Missense |
c.780_781insNNN; p.S260_S261insX; 17:7674182-7674183 |
lung | carcinoma; non_small_cell_carcinoma | Insertion - In frame |
c.687T>A; p.C229*; 17:7674276-7674276 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.658T>G; p.Y220D; 17:7674873-7674873 |
pancreas | carcinoma | Substitution - Missense |
c.780_781insNNN; p.S260_S261insX; 17:7674182-7674183 |
ovary | other; neoplasm | Insertion - In frame |
c.973G>T; p.G325*; 17:7673555-7673555 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.711G>A; p.M237I; 17:7674252-7674252 |
ovary | carcinoma | Substitution - Missense |
c.626G>A; p.R209K; 17:7674905-7674905 |
oesophagus | carcinoma | Substitution - Missense |
c.542G>C; p.R181P; 17:7675070-7675070 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.375G>T; p.T125T; 17:7675994-7675994 |
pancreas | carcinoma | Substitution - coding silent |
c.375G>T; p.T125T; 17:7675994-7675994 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.711G>A; p.M237I; 17:7674252-7674252 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.838A>T; p.R280*; 17:7673782-7673782 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.711G>A; p.M237I; 17:7674252-7674252 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.542G>C; p.R181P; 17:7675070-7675070 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.672+25_672+26GG>AA; p.?; 17:7674833-7674834 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.754C>T; p.L252F; 17:7674209-7674209 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.565G>C; p.A189P; 17:7674966-7674966 |
ovary | other; neoplasm | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.432G>C; p.Q144H; 17:7675180-7675180 |
large_intestine; rectum | adenoma | Substitution - Missense |
c.838A>T; p.R280*; 17:7673782-7673782 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.658T>A; p.Y220N; 17:7674873-7674873 |
breast | carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.784_807del24; p.G262_S269delGNLLGR17:7673813-7673836 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - In frame |
c.711G>A; p.M237I; 17:7674252-7674252 |
lung | carcinoma | Substitution - Missense |
c.375G>T; p.T125T; 17:7675994-7675994 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.375G>T; p.T125T; 17:7675994-7675994 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.739A>G; p.N247D; 17:7674224-7674224 |
prostate | carcinoma | Substitution - Missense |
c.754C>T; p.L252F; 17:7674209-7674209 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.754C>T; p.L252F; 17:7674209-7674209 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.375G>T; p.T125T; 17:7675994-7675994 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.838A>T; p.R280*; 17:7673782-7673782 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.257C>T; p.A86V; 17:7676112-7676112 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.838A>T; p.R280*; 17:7673782-7673782 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.658T>A; p.Y220N; 17:7674873-7674873 |
pancreas | carcinoma | Substitution - Missense |
c.838A>T; p.R280*; 17:7673782-7673782 |
breast | carcinoma | Substitution - Nonsense |
c.395A>C; p.K132T; 17:7675217-7675217 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.739A>G; p.N247D; 17:7674224-7674224 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.542G>C; p.R181P; 17:7675070-7675070 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.754C>T; p.L252F; 17:7674209-7674209 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.375G>T; p.T125T; 17:7675994-7675994 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.711G>A; p.M237I; 17:7674252-7674252 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.687T>A; p.C229*; 17:7674276-7674276 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.952C>G; p.P318A; 17:7673576-7673576 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.542G>C; p.R181P; 17:7675070-7675070 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.658T>A; p.Y220N; 17:7674873-7674873 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.694delA; p.I232fs*15; 17:7674269-7674269 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.658T>A; p.Y220N; 17:7674873-7674873 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.973G>T; p.G325*; 17:7673555-7673555 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.711G>A; p.M237I; 17:7674252-7674252 |
ovary | other; neoplasm | Substitution - Missense |
c.291_295delCCCTT; p.S99fs*48; 17:7676074-7676078 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.711G>A; p.M237I; 17:7674252-7674252 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.375G>T; p.T125T; 17:7675994-7675994 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.658T>A; p.Y220N; 17:7674873-7674873 |
breast | carcinoma | Substitution - Missense |
c.375G>T; p.T125T; 17:7675994-7675994 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.358A>G; p.K120E; 17:7676011-7676011 |
skin | malignant_melanoma | Substitution - Missense |
c.375G>T; p.T125T; 17:7675994-7675994 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.711G>A; p.M237I; 17:7674252-7674252 |
stomach | carcinoma | Substitution - Missense |
c.658T>A; p.Y220N; 17:7674873-7674873 |
skin; trunk | other; keratosis | Substitution - Missense |
c.616_617TT>N; p.L206fs*41; 17:7674914-7674915 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Complex - frameshift |
c.711G>A; p.M237I; 17:7674252-7674252 |
liver | carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.542G>C; p.R181P; 17:7675070-7675070 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
ovary | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.375G>T; p.T125T; 17:7675994-7675994 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.838A>T; p.R280*; 17:7673782-7673782 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.838A>T; p.R280*; 17:7673782-7673782 |
small_intestine; ileum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.711G>A; p.M237I; 17:7674252-7674252 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.358A>G; p.K120E; 17:7676011-7676011 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.754C>T; p.L252F; 17:7674209-7674209 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.838A>T; p.R280*; 17:7673782-7673782 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.695T>C; p.I232T; 17:7674268-7674268 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.658T>A; p.Y220N; 17:7674873-7674873 |
skin; leg | other; keratosis | Substitution - Missense |
c.427G>T; p.V143L; 17:7675185-7675185 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.432G>C; p.Q144H; 17:7675180-7675180 |
breast | carcinoma | Substitution - Missense |
c.754C>T; p.L252F; 17:7674209-7674209 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
ovary | carcinoma | Substitution - Missense |
c.711G>A; p.M237I; 17:7674252-7674252 |
ovary | other; neoplasm | Substitution - Missense |
c.720_734del15; p.S241_G245delSCMGG; 17:7674229-7674243 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.473G>T; p.R158L; 17:7675139-7675139 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; MALT_lymphoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.646_648delGTG; p.V218delV; 17:7674883-7674885 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.473G>T; p.R158L; 17:7675139-7675139 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; MALT_lymphoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.426_446del21; p.V143_S149delVQLWVDS; 17:7675166-7675186 |
breast | carcinoma | Deletion - In frame |
c.473G>T; p.R158L; 17:7675139-7675139 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.511G>A; p.E171K; 17:7675101-7675101 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.646_648delGTG; p.V218delV; 17:7674883-7674885 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - In frame |
c.511G>A; p.E171K; 17:7675101-7675101 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.682G>A; p.D228N; 17:7674281-7674281 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
soft_tissue | sarcoma | Substitution - Missense |
c.682G>A; p.D228N; 17:7674281-7674281 |
liver | carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.511G>A; p.E171K; 17:7675101-7675101 |
lung | carcinoid-endocrine_tumour | Substitution - Missense |
c.379T>C; p.S127P; 17:7675233-7675233 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.1043T>A; p.L348*; 17:7670666-7670666 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.511G>A; p.E171K; 17:7675101-7675101 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.709_717delATGTGTAAC; p.M237_N239delMCN; 17:7674246-7674254 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.682G>A; p.D228N; 17:7674281-7674281 |
skin; leg | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.721T>G; p.S241A; 17:7674242-7674242 |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_II | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.379T>C; p.S127P; 17:7675233-7675233 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.511G>A; p.E171K; 17:7675101-7675101 |
breast | carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.727A>T; p.M243L; 17:7674236-7674236 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.379T>C; p.S127P; 17:7675233-7675233 |
breast | carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.260C>A; p.P87Q; 17:7676109-7676109 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.721T>G; p.S241A; 17:7674242-7674242 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
liver | other; adenoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.721T>G; p.S241A; 17:7674242-7674242 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.837G>A; p.G279G; 17:7673783-7673783 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.736A>G; p.M246V; 17:7674227-7674227 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.918A>T; p.R306R; 17:7673702-7673702 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - coding silent |
c.918A>T; p.R306R; 17:7673702-7673702 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.751_753delATC; p.I251delI; 17:7674210-7674212 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.473G>T; p.R158L; 17:7675139-7675139 |
thymus | thymic_carcinoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.379T>C; p.S127P; 17:7675233-7675233 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.382C>G; p.P128A; 17:7675230-7675230 |
salivary_gland; major | adenoma; pleomorphic | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.516delT; p.V173fs*1; 17:7675096-7675096 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.994-1G>C; p.?; 17:7670716-7670716 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.560_561insNNNNNNN; p.L188fs*23; 17:7674970-7674971 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.682G>A; p.D228N; 17:7674281-7674281 |
breast | carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
central_nervous_system; frontal_lobe | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.727A>T; p.M243L; 17:7674236-7674236 |
ovary | carcinoma | Substitution - Missense |
c.646_648delGTG; p.V218delV; 17:7674883-7674885 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Deletion - In frame |
c.473G>T; p.R158L; 17:7675139-7675139 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.860A>C; p.E287A; 17:7673760-7673760 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.727A>T; p.M243L; 17:7674236-7674236 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.721T>G; p.S241A; 17:7674242-7674242 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.727A>T; p.M243L; 17:7674236-7674236 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.957_958insNNNN; p.K320fs*18; 17:7673570-7673571 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.736A>G; p.M246V; 17:7674227-7674227 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.751_753delATC; p.I251delI; 17:7674210-7674212 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.721T>G; p.S241A; 17:7674242-7674242 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.646_648delGTG; p.V218delV; 17:7674883-7674885 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Deletion - In frame |
c.736A>G; p.M246V; 17:7674227-7674227 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.716A>T; p.N239I; 17:7674247-7674247 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.727A>T; p.M243L; 17:7674236-7674236 |
breast | carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
breast | carcinoma | Substitution - Missense |
c.511G>A; p.E171K; 17:7675101-7675101 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.646_648delGTG; p.V218delV; 17:7674883-7674885 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Deletion - In frame |
c.511G>A; p.E171K; 17:7675101-7675101 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.721T>G; p.S241A; 17:7674242-7674242 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.472_477CGCGCC>CC; p.R158fs*11; 17:7675135-7675140 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Complex - frameshift |
c.736A>G; p.M246V; 17:7674227-7674227 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
ovary | other; neoplasm | Substitution - Missense |
c.571_581del11; p.P191fs*14; 17:7674950-7674960 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.472_477CGCGCC>CC; p.R158fs*11; 17:7675135-7675140 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Complex - frameshift |
c.736A>G; p.M246V; 17:7674227-7674227 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1043T>A; p.L348*; 17:7670666-7670666 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.566delC; p.P190fs*57; 17:7674965-7674965 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.473G>T; p.R158L; 17:7675139-7675139 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.927C>A; p.P309P; 17:7673601-7673601 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.736A>G; p.M246V; 17:7674227-7674227 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.379T>C; p.S127P; 17:7675233-7675233 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.379T>C; p.S127P; 17:7675233-7675233 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.511G>A; p.E171K; 17:7675101-7675101 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.786_796del11; p.N263fs*5; 17:7673824-7673834 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.473G>T; p.R158L; 17:7675139-7675139 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1043T>A; p.L348*; 17:7670666-7670666 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Nonsense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; pleomorphic_carcinoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.379T>C; p.S127P; 17:7675233-7675233 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.877G>T; p.G293W; 17:7673743-7673743 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.260C>A; p.P87Q; 17:7676109-7676109 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.721T>G; p.S241A; 17:7674242-7674242 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010_1011delGC; p.R337fs*9; 17:7670698-7670699 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.721T>G; p.S241A; 17:7674242-7674242 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.705_706insNNNN; p.Y236fs*5; 17:7674257-7674258 |
breast | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.727A>T; p.M243L; 17:7674236-7674236 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.682G>A; p.D228N; 17:7674281-7674281 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
soft_tissue | sarcoma | Substitution - Missense |
c.646_648delGTG; p.V218delV; 17:7674883-7674885 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Deletion - In frame |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.511G>A; p.E171K; 17:7675101-7675101 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Substitution - Missense |
c.379T>C; p.S127P; 17:7675233-7675233 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.837G>A; p.G279G; 17:7673783-7673783 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.736A>G; p.M246V; 17:7674227-7674227 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.474_506del33; p.A159_M169del; 17:7675106-7675138 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.379T>C; p.S127P; 17:7675233-7675233 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.646_648delGTG; p.V218delV; 17:7674883-7674885 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - In frame |
c.473G>T; p.R158L; 17:7675139-7675139 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.646_648delGTG; p.V218delV; 17:7674883-7674885 |
pancreas | carcinoma; ductal_carcinoma | Deletion - In frame |
c.260C>A; p.P87Q; 17:7676109-7676109 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.721T>G; p.S241A; 17:7674242-7674242 |
ovary | carcinoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.473G>T; p.R158L; 17:7675139-7675139 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.736A>G; p.M246V; 17:7674227-7674227 |
soft_tissue; fibrous_tissue_and_uncertain_o | malignant_melanoma_of_soft_parts-clear_cell_sarcoma | Substitution - Missense |
c.721T>G; p.S241A; 17:7674242-7674242 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.682G>A; p.D228N; 17:7674281-7674281 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.398T>G; p.M133R; 17:7675214-7675214 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>T; p.E286*; 17:7673764-7673764 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.224delC; p.P75fs*48; 17:7676145-7676145 |
breast | carcinoma; HER-positive_carcinoma | Deletion - Frameshift |
c.398T>G; p.M133R; 17:7675214-7675214 |
pancreas | carcinoma | Substitution - Missense |
c.96+1G>T; p.?; 17:7676381-7676381 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.526T>C; p.C176R; 17:7675086-7675086 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.764T>A; p.I255N; 17:7674199-7674199 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.526T>C; p.C176R; 17:7675086-7675086 |
breast | carcinoma | Substitution - Missense |
c.526T>C; p.C176R; 17:7675086-7675086 |
breast | carcinoma | Substitution - Missense |
c.168_169ins17; p.A63fs*66; 17:7676200-7676201 |
liver | carcinoma; hepatocellular_carcinoma | Insertion - Frameshift |
c.856G>T; p.E286*; 17:7673764-7673764 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.398T>G; p.M133R; 17:7675214-7675214 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.856G>T; p.E286*; 17:7673764-7673764 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.764T>A; p.I255N; 17:7674199-7674199 |
pancreas | carcinoma | Substitution - Missense |
c.764T>A; p.I255N; 17:7674199-7674199 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.856G>T; p.E286*; 17:7673764-7673764 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.764T>A; p.I255N; 17:7674199-7674199 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.526T>C; p.C176R; 17:7675086-7675086 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.764T>A; p.I255N; 17:7674199-7674199 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.526T>C; p.C176R; 17:7675086-7675086 |
central_nervous_system; cerebellum | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.945T>G; p.S315S; 17:7673583-7673583 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.251C>G; p.A84G; 17:7676118-7676118 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.463A>G; p.T155A; 17:7675149-7675149 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.597_598insN; p.N200fs*9; 17:7674933-7674934 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.398T>G; p.M133R; 17:7675214-7675214 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.588A>C; p.R196R; 17:7674943-7674943 |
large_intestine; appendix | carcinoma; adenocarcinoma | Substitution - coding silent |
c.526T>C; p.C176R; 17:7675086-7675086 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.856G>T; p.E286*; 17:7673764-7673764 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.96+1G>T; p.?; 17:7676381-7676381 |
liver | carcinoma | Unknown |
c.526T>C; p.C176R; 17:7675086-7675086 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Substitution - Missense |
c.375+45G>A; p.?; 17:7675949-7675949 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Unknown |
c.764T>A; p.I255N; 17:7674199-7674199 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.785G>A; p.G262D; 17:7673835-7673835 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>T; p.E286*; 17:7673764-7673764 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Nonsense |
c.262delG; p.A88fs*35; 17:7676107-7676107 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.544T>C; p.C182R; 17:7675068-7675068 |
lung | carcinoma; blastoma | Substitution - Missense |
c.421delT; p.C141fs*29; 17:7675191-7675191 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.764T>A; p.I255N; 17:7674199-7674199 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.96+1G>T; p.?; 17:7676381-7676381 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.463A>G; p.T155A; 17:7675149-7675149 |
bone | other; ameloblastoma | Substitution - Missense |
c.919G>A; p.A307T; 17:7673701-7673701 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.856G>T; p.E286*; 17:7673764-7673764 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.856G>T; p.E286*; 17:7673764-7673764 |
skin; arm | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Nonsense |
c.398T>G; p.M133R; 17:7675214-7675214 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>T; p.E286*; 17:7673764-7673764 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.335G>A; p.G112D; 17:7676034-7676034 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.856G>T; p.E286*; 17:7673764-7673764 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.856G>T; p.E286*; 17:7673764-7673764 |
vulva | carcinoma | Substitution - Nonsense |
c.781A>T; p.S261C; 17:7674182-7674182 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.398T>G; p.M133R; 17:7675214-7675214 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.96+1G>T; p.?; 17:7676381-7676381 |
pancreas | carcinoma | Unknown |
c.764T>A; p.I255N; 17:7674199-7674199 |
breast | carcinoma | Substitution - Missense |
c.785G>A; p.G262D; 17:7673835-7673835 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.463A>G; p.T155A; 17:7675149-7675149 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.463A>G; p.T155A; 17:7675149-7675149 |
oesophagus | carcinoma | Substitution - Missense |
c.251C>G; p.A84G; 17:7676118-7676118 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.463A>G; p.T155A; 17:7675149-7675149 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.919G>A; p.A307T; 17:7673701-7673701 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.526T>C; p.C176R; 17:7675086-7675086 |
central_nervous_system; cerebellum | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.96+1G>T; p.?; 17:7676381-7676381 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.764T>A; p.I255N; 17:7674199-7674199 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.463A>G; p.T155A; 17:7675149-7675149 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.785G>A; p.G262D; 17:7673835-7673835 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.463A>G; p.T155A; 17:7675149-7675149 |
prostate | carcinoma | Substitution - Missense |
c.1037A>G; p.E346G; 17:7670672-7670672 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.526T>C; p.C176R; 17:7675086-7675086 |
breast | carcinoma | Substitution - Missense |
c.96+1G>T; p.?; 17:7676381-7676381 |
liver | carcinoma | Unknown |
c.785G>A; p.G262D; 17:7673835-7673835 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.856G>T; p.E286*; 17:7673764-7673764 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.749_750CC>TT; p.P250L; 17:7674213-7674214 |
ovary | other; neoplasm | Substitution - Missense |
c.856G>T; p.E286*; 17:7673764-7673764 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.526T>C; p.C176R; 17:7675086-7675086 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_myelodysplastic_syndrome_therapy_related_NOS | Substitution - Missense |
c.262delG; p.A88fs*35; 17:7676107-7676107 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.526T>C; p.C176R; 17:7675086-7675086 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.526T>C; p.C176R; 17:7675086-7675086 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.398T>G; p.M133R; 17:7675214-7675214 |
pancreas | carcinoma | Substitution - Missense |
c.856G>T; p.E286*; 17:7673764-7673764 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.526T>C; p.C176R; 17:7675086-7675086 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.526T>C; p.C176R; 17:7675086-7675086 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.801G>A; p.R267R; 17:7673819-7673819 |
breast | other; neoplasm | Substitution - coding silent |
c.785G>A; p.G262D; 17:7673835-7673835 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.856G>T; p.E286*; 17:7673764-7673764 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.526T>C; p.C176R; 17:7675086-7675086 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.529_540del12; p.P177_E180delPHHE; 17:7675072-7675083 |
breast | carcinoma | Deletion - In frame |
c.544T>C; p.C182R; 17:7675068-7675068 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.934delA; p.T312fs*33; 17:7673594-7673594 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.69G>A; p.W23*; 17:7676526-7676526 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.856G>T; p.E286*; 17:7673764-7673764 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.785G>A; p.G262D; 17:7673835-7673835 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>T; p.E286*; 17:7673764-7673764 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.463A>G; p.T155A; 17:7675149-7675149 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.398T>G; p.M133R; 17:7675214-7675214 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.761T>A; p.I254N; 17:7674202-7674202 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.767C>A; p.T256K; 17:7674196-7674196 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.341T>A; p.L114*; 17:7676028-7676028 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.643A>G; p.S215G; 17:7674888-7674888 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.652_654delGTG; p.V218delV; 17:7674877-7674879 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - In frame |
c.730G>A; p.G244S; 17:7674233-7674233 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
stomach | carcinoid-endocrine_tumour | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.761T>A; p.I254N; 17:7674202-7674202 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.887A>C; p.H296P; 17:7673733-7673733 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.544delT; p.C182fs*65; 17:7675068-7675068 |
breast | carcinoma | Deletion - Frameshift |
c.767C>A; p.T256K; 17:7674196-7674196 |
liver | carcinoma | Substitution - Missense |
c.903A>G; p.P301P; 17:7673717-7673717 |
oesophagus | carcinoma | Substitution - coding silent |
c.652_654delGTG; p.V218delV; 17:7674877-7674879 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.730G>A; p.G244S; 17:7674233-7674233 |
breast | carcinoma | Substitution - Missense |
c.454C>G; p.P152A; 17:7675158-7675158 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.643A>G; p.S215G; 17:7674888-7674888 |
pancreas | carcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.643A>G; p.S215G; 17:7674888-7674888 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
soft_tissue; fat | liposarcoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.341T>A; p.L114*; 17:7676028-7676028 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.451_452insN; p.P151fs*30; 17:7675160-7675161 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.643A>G; p.S215G; 17:7674888-7674888 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1118A>G; p.K373R; 17:7669673-7669673 |
central_nervous_system; cerebellum | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.652_654delGTG; p.V218delV; 17:7674877-7674879 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.682G>T; p.D228Y; 17:7674281-7674281 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.643A>G; p.S215G; 17:7674888-7674888 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.643A>G; p.S215G; 17:7674888-7674888 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.454C>G; p.P152A; 17:7675158-7675158 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.682G>T; p.D228Y; 17:7674281-7674281 |
stomach | adenocarcinoma | Substitution - Missense |
c.652_654delGTG; p.V218delV; 17:7674877-7674879 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.730G>A; p.G244S; 17:7674233-7674233 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.643A>G; p.S215G; 17:7674888-7674888 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.469_471delGTC; p.V157delV; 17:7675141-7675143 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.730G>A; p.G244S; 17:7674233-7674233 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.156A>G; p.Q52Q; 17:7676213-7676213 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.730G>A; p.G244S; 17:7674233-7674233 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.712delT; p.C238fs*9; 17:7674251-7674251 |
prostate | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.579delT; p.I195fs*52; 17:7674952-7674952 |
breast | carcinoma | Deletion - Frameshift |
c.903A>G; p.P301P; 17:7673717-7673717 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.730G>A; p.G244S; 17:7674233-7674233 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.388_424del37; p.N131fs*27; 17:7675188-7675224 |
breast | carcinoma | Deletion - Frameshift |
c.643A>G; p.S215G; 17:7674888-7674888 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
breast | carcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.767C>A; p.T256K; 17:7674196-7674196 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.767C>A; p.T256K; 17:7674196-7674196 |
liver | carcinoma | Substitution - Missense |
c.643A>G; p.S215G; 17:7674888-7674888 |
breast | carcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.761T>A; p.I254N; 17:7674202-7674202 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.431_431delA; p.Q144fs*26; 17:7675181-7675181 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.730G>A; p.G244S; 17:7674233-7674233 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.823_832del10; p.C275fs*67; 17:7673788-7673797 |
prostate | carcinoma | Deletion - Frameshift |
c.730G>A; p.G244S; 17:7674233-7674233 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.643A>G; p.S215G; 17:7674888-7674888 |
breast | carcinoma | Substitution - Missense |
c.469_471delGTC; p.V157delV; 17:7675141-7675143 |
lung | carcinoma; adenocarcinoma | Deletion - In frame |
c.730G>A; p.G244S; 17:7674233-7674233 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.643A>G; p.S215G; 17:7674888-7674888 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.643A>G; p.S215G; 17:7674888-7674888 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.761T>A; p.I254N; 17:7674202-7674202 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.682G>T; p.D228Y; 17:7674281-7674281 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.730G>A; p.G244S; 17:7674233-7674233 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.496T>A; p.S166T; 17:7675116-7675116 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
breast | carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
breast | carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
breast | carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
breast | carcinoma | Substitution - Missense |
c.827_829CCT>TC; p.A276fs*69; 17:7673791-7673793 |
skin | carcinoma; squamous_cell_carcinoma | Complex - frameshift |
c.814G>A; p.V272M; 17:7673806-7673806 |
breast | carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.745_753delAGGCCCATC; p.R249_I251delRPI; 17:7674210-7674218 |
breast | carcinoma | Deletion - In frame |
c.646G>A; p.V216M; 17:7674885-7674885 |
ovary | carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
breast | carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
ovary | other; neoplasm | Substitution - Missense |
c.554G>T; p.S185I; 17:7675058-7675058 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
breast | carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
breast | carcinoma | Substitution - Missense |
c.456_457insT; p.P153fs*28; 17:7675155-7675156 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.166G>T; p.E56*; 17:7676203-7676203 |
breast | carcinoma | Substitution - Nonsense |
c.559+24C>T; p.?; 17:7675029-7675029 |
large_intestine | carcinoma; adenocarcinoma | Unknown |
c.646G>A; p.V216M; 17:7674885-7674885 |
lung | carcinoid-endocrine_tumour; atypical | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
stomach | carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.758C>T; p.T253I; 17:7674205-7674205 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
pancreas | carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
breast | carcinoma | Substitution - Missense |
c.980_981delAT; p.Y327fs*9; 17:7673547-7673548 |
ovary | carcinoma | Deletion - Frameshift |
c.814G>A; p.V272M; 17:7673806-7673806 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.716_721delACAGTT; p.N239_S241>T; 17:7674242-7674247 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Complex - deletion inframe |
c.646G>A; p.V216M; 17:7674885-7674885 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
vulva | carcinoma | Substitution - Missense |
c.694_701delATCCACTA; p.I232fs*5; 17:7674262-7674269 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.646G>A; p.V216M; 17:7674885-7674885 |
upper_aerodigestive_tract; head_neck | carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
oesophagus | carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.683A>G; p.D228G; 17:7674280-7674280 |
breast | carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
ovary | carcinoma | Substitution - Missense |
c.166G>T; p.E56*; 17:7676203-7676203 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.646G>A; p.V216M; 17:7674885-7674885 |
breast | carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.511_556del46; p.E171fs*61; 17:7675056-7675101 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.646G>A; p.V216M; 17:7674885-7674885 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.604C>T; p.R202C; 17:7674927-7674927 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
ovary | carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
lung | carcinoid-endocrine_tumour | Substitution - Missense |
c.637delC; p.R213fs*34; 17:7674894-7674894 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Deletion - Frameshift |
c.814G>A; p.V272M; 17:7673806-7673806 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.166G>T; p.E56*; 17:7676203-7676203 |
skin; trunk | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.758C>T; p.T253I; 17:7674205-7674205 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.604C>T; p.R202C; 17:7674927-7674927 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.683A>G; p.D228G; 17:7674280-7674280 |
prostate | carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
soft_tissue | sarcoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.783-2_783-1insNNN; p.?; 17:7673838-7673839 |
ovary | carcinoma | Unknown |
c.916delC; p.R306fs*39; 17:7673704-7673704 |
central_nervous_system; brain | glioma; oligodendroglioma | Deletion - Frameshift |
c.814G>A; p.V272M; 17:7673806-7673806 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.706_711delTACATG; p.Y236_M237delYM; 17:7674252-7674257 |
pancreas | carcinoma; ductal_carcinoma | Deletion - In frame |
c.646G>A; p.V216M; 17:7674885-7674885 |
ovary | carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
liver | carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.683A>G; p.D228G; 17:7674280-7674280 |
genital_tract; extragonadal | germ_cell_tumour; seminoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
breast | carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
breast | carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.604C>T; p.R202C; 17:7674927-7674927 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.683A>G; p.D228G; 17:7674280-7674280 |
bone | osteosarcoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.758C>T; p.T253I; 17:7674205-7674205 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.166G>T; p.E56*; 17:7676203-7676203 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.814G>A; p.V272M; 17:7673806-7673806 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.130A>G; p.M44V; 17:7676239-7676239 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.599A>C; p.N200T; 17:7674932-7674932 |
central_nervous_system; cerebellum | other; central_neurocytoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
pancreas | carcinoma | Substitution - Missense |
c.916delC; p.R306fs*39; 17:7673704-7673704 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.646G>A; p.V216M; 17:7674885-7674885 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.646_660del15; p.V216_Y220delVVVPY; 17:7674871-7674885 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.779_780insN; p.S261fs*3; 17:7674183-7674184 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; MALT_lymphoma | Insertion - Frameshift |
c.814G>A; p.V272M; 17:7673806-7673806 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Substitution - Missense |
c.408A>T; p.Q136H; 17:7675204-7675204 |
prostate | carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
ovary | carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
bone | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
breast | carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
pancreas | carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.227C>T; p.A76V; 17:7676142-7676142 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_essential_thrombocythaemia | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.827_829CCT>TC; p.A276fs*69; 17:7673791-7673793 |
skin | carcinoma; squamous_cell_carcinoma | Complex - frameshift |
c.646G>A; p.V216M; 17:7674885-7674885 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
bone | osteosarcoma | Substitution - Missense |
c.109_130del22; p.S37fs*79; 17:7676239-7676260 |
prostate | carcinoma | Deletion - Frameshift |
c.646G>A; p.V216M; 17:7674885-7674885 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.683A>G; p.D228G; 17:7674280-7674280 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
ovary | carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
ovary | other; neoplasm | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.604C>T; p.R202C; 17:7674927-7674927 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
bone | osteosarcoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.637delC; p.R213fs*34; 17:7674894-7674894 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.814G>A; p.V272M; 17:7673806-7673806 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.166G>T; p.E56*; 17:7676203-7676203 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.646G>A; p.V216M; 17:7674885-7674885 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
ovary | carcinoma; mucinous_carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.376-13C>T; p.?; 17:7675249-7675249 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.758C>T; p.T253I; 17:7674205-7674205 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.166G>T; p.E56*; 17:7676203-7676203 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.814G>A; p.V272M; 17:7673806-7673806 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
breast | carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
ovary | carcinoma; mucinous_carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
ovary | carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.637delC; p.R213fs*34; 17:7674894-7674894 |
breast | carcinoma | Deletion - Frameshift |
c.814G>A; p.V272M; 17:7673806-7673806 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.814G>A; p.V272M; 17:7673806-7673806 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.646G>A; p.V216M; 17:7674885-7674885 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
breast | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
breast | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
breast | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
breast | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
ovary | other; neoplasm | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
skin; arm | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.398T>A; p.M133K; 17:7675214-7675214 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.771_819del49; p.E258fs*71; 17:7673801-7674192 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Deletion - Frameshift |
c.844C>T; p.R282W; 17:7673776-7673776 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
breast | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
salivary_gland; parotid | carcinoma; large_cell_undifferentiated_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
pancreas | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
ovary | other; neoplasm | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.590T>A; p.V197E; 17:7674941-7674941 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.795G>A; p.L265L; 17:7673825-7673825 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.844C>T; p.R282W; 17:7673776-7673776 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.398T>A; p.M133K; 17:7675214-7675214 |
breast | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.417G>T; p.K139N; 17:7675195-7675195 |
breast | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma | Substitution - Missense |
c.559+13G>A; p.?; 17:7675040-7675040 |
breast | carcinoma | Unknown |
c.417G>T; p.K139N; 17:7675195-7675195 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.795G>A; p.L265L; 17:7673825-7673825 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.844C>T; p.R282W; 17:7673776-7673776 |
lung | carcinoma; blastoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.590T>A; p.V197E; 17:7674941-7674941 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
bone | osteosarcoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
breast | other; neoplasm | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
breast | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.411G>T; p.L137L; 17:7675201-7675201 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
pancreas | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.417G>T; p.K139N; 17:7675195-7675195 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
thyroid | carcinoma; papillary_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
breast | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
ovary | carcinoma; mucinous_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.417G>T; p.K139N; 17:7675195-7675195 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.929A>C; p.N310T; 17:7673599-7673599 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.688delA; p.T230fs*17; 17:7674275-7674275 |
breast | carcinoma | Deletion - Frameshift |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.764_766delTCA; p.I255delI; 17:7674197-7674199 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - In frame |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
breast | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma | Substitution - Missense |
c.408delA; p.Q136fs*34; 17:7675204-7675204 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.844C>T; p.R282W; 17:7673776-7673776 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
ovary | other; neoplasm | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
breast | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma | Substitution - Missense |
c.398T>A; p.M133K; 17:7675214-7675214 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.826_849del24; p.A276_R283delACPGRDRR; 17:7673771-7673794 |
oesophagus | carcinoma | Deletion - In frame |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
skin; arm | other; keratosis | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.398T>A; p.M133K; 17:7675214-7675214 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
breast | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.989T>G; p.L330R; 17:7673539-7673539 |
breast | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
skin; face | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma | Substitution - Missense |
c.577_585delCATCTTATC; p.H193_I195delHLI; 17:7674946-7674954 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Deletion - In frame |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; undifferentiated_adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.79delC; p.P27fs*17; 17:7676399-7676399 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.590T>A; p.V197E; 17:7674941-7674941 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine | adenoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
stomach | adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.919+2T>A; p.?; 17:7673699-7673699 |
ovary | carcinoma | Unknown |
c.764_766delTCA; p.I255delI; 17:7674197-7674199 |
breast | carcinoma | Deletion - In frame |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
liver | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
ovary | low_malignant_potential_(borderline)_tumour; mucinous | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; classic | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
ovary | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
breast | carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.398T>A; p.M133K; 17:7675214-7675214 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
ovary | other; neoplasm | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
breast | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
breast | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
lung | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
skin; trunk | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.501_502insNNNNNNNN; p.H168fs*5; 17:7675110-7675111 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.844C>T; p.R282W; 17:7673776-7673776 |
breast | carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.590T>A; p.V197E; 17:7674941-7674941 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
breast | carcinoma | Substitution - Missense |
c.590T>A; p.V197E; 17:7674941-7674941 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
bone | osteosarcoma | Substitution - Missense |
c.408delA; p.Q136fs*34; 17:7675204-7675204 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.79delC; p.P27fs*17; 17:7676399-7676399 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.989T>G; p.L330R; 17:7673539-7673539 |
liver | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
liver | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.656C>G; p.P219R; 17:7674875-7674875 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.929A>C; p.N310T; 17:7673599-7673599 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.385delG; p.A129fs*41; 17:7675227-7675227 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.989T>G; p.L330R; 17:7673539-7673539 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
oesophagus | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
ovary | carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
breast | carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
ovary | carcinoma; mucinous_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
breast | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.398T>A; p.M133K; 17:7675214-7675214 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
breast | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.442_470del29; p.D148fs*23; 17:7675142-7675170 |
ovary | carcinoma | Deletion - Frameshift |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
ovary | carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.600delT; p.L201fs*46; 17:7674931-7674931 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.590T>A; p.V197E; 17:7674941-7674941 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
ovary | other; neoplasm | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.398T>A; p.M133K; 17:7675214-7675214 |
prostate | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
prostate | carcinoma | Substitution - Missense |
c.590T>A; p.V197E; 17:7674941-7674941 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817_820delCGTG; p.R273fs*71; 17:7673800-7673803 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.398T>A; p.M133K; 17:7675214-7675214 |
breast | carcinoma | Substitution - Missense |
c.398T>A; p.M133K; 17:7675214-7675214 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.398T>A; p.M133K; 17:7675214-7675214 |
haematopoietic_and_lymphoid_tissue; soft_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.989T>G; p.L330R; 17:7673539-7673539 |
liver | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
urinary_tract; bladder | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1014delC; p.F338fs*7; 17:7670695-7670695 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.734G>A; p.G245D; 17:7674229-7674229 |
ovary | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.688delA; p.T230fs*17; 17:7674275-7674275 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.590T>A; p.V197E; 17:7674941-7674941 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
breast | carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine; rectum | adenoma | Substitution - Missense |
c.715_720delAACAGT; p.N239_S240del17:7674243-7674248 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.499_504CAGCAC>TACCTC; p.Q167_H168>YL; 17:7675108-7675113 |
lung | carcinoma; non_small_cell_carcinoma | Complex - compound substitution |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
breast | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1053G>T; p.K351N; 17:7670656-7670656 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
breast | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
vulva | carcinoma | Substitution - Missense |
c.1032delG; p.N345fs*25; 17:7670677-7670677 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.398T>A; p.M133K; 17:7675214-7675214 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.795G>A; p.L265L; 17:7673825-7673825 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.844C>T; p.R282W; 17:7673776-7673776 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
breast | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.398T>A; p.M133K; 17:7675214-7675214 |
pancreas | carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
prostate | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
skin; trunk | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.398T>A; p.M133K; 17:7675214-7675214 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.196_197insA; p.M66fs*83; 17:7676172-7676173 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Insertion - Frameshift |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.483_484insTGGCC; p.I162fs*10; 17:7675128-7675129 |
breast | carcinoma | Insertion - Frameshift |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
breast | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
prostate | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
prostate | carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine | adenoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
bone; humerus | chondrosarcoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.590T>A; p.V197E; 17:7674941-7674941 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.698_699insTCCA; p.Y234fs*7; 17:7674264-7674265 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
ovary | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
oesophagus | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
breast | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.652_660delGTGCCCTAT; p.V218_Y220delVPY; 17:7674871-7674879 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.844C>T; p.R282W; 17:7673776-7673776 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.590T>A; p.V197E; 17:7674941-7674941 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.828C>T; p.A276A; 17:7673792-7673792 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - coding silent |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
breast | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.715_720delAACAGT; p.N239_S240del17:7674243-7674248 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.844C>T; p.R282W; 17:7673776-7673776 |
endometrium | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.417G>T; p.K139N; 17:7675195-7675195 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
ovary | other; neoplasm | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
oesophagus | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
pancreas | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | adenoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.989T>G; p.L330R; 17:7673539-7673539 |
skin | malignant_melanoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
thymus | thymoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
oesophagus | carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
oesophagus | carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>A; p.G245D; 17:7674229-7674229 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.844C>T; p.R282W; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.769C>G; p.L257V; 17:7674194-7674194 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.137C>T; p.S46F; 17:7676232-7676232 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.769C>G; p.L257V; 17:7674194-7674194 |
liver | carcinoma | Substitution - Missense |
c.577_585CATCTTATC>GCCCCT; p.H193_I195>AP; 17:7674946-7674954 |
ovary | carcinoma; serous_carcinoma | Complex - deletion inframe |
c.226_270del45; p.A76_S90del15; 17:7676099-7676143 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm | Deletion - In frame |
c.226_270del45; p.A76_S90del15; 17:7676099-7676143 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Deletion - In frame |
c.843C>T; p.D281D; 17:7673777-7673777 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.881A>G; p.E294G; 17:7673739-7673739 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.600_601insN; p.L201fs*8; 17:7674930-7674931 |
skin; face | in_situ_epithelial_neoplasm; actinic_keratosis | Insertion - Frameshift |
c.971delA; p.D324fs*21; 17:7673557-7673557 |
ovary | carcinoma; undifferentiated_carcinoma | Deletion - Frameshift |
c.352delA; p.T118fs*5; 17:7676017-7676017 |
lung | carcinoma | Deletion - Frameshift |
c.98delC; p.L35fs*9; 17:7676271-7676271 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.205delG; p.A69fs*54; 17:7676164-7676164 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.927delC; p.N310fs*35; 17:7673601-7673601 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.843C>T; p.D281D; 17:7673777-7673777 |
ovary | carcinoma | Substitution - coding silent |
c.137C>T; p.S46F; 17:7676232-7676232 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.672+40G>T; p.?; 17:7674819-7674819 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.795G>C; p.L265L; 17:7673825-7673825 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.166_167ins17; p.E56fs*73; 17:7676202-7676203 |
liver | carcinoma; hepatocellular_carcinoma | Insertion - Frameshift |
c.555_556insTAGC; p.D186fs*1; 17:7675056-7675057 |
vulva | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.642T>G; p.H214Q; 17:7674889-7674889 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.769C>G; p.L257V; 17:7674194-7674194 |
central_nervous_system; frontal_lobe | glioma; astrocytoma | Substitution - Missense |
c.137C>T; p.S46F; 17:7676232-7676232 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.881A>G; p.E294G; 17:7673739-7673739 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.526_531delTGCCCC; p.C176_P177delCP; 17:7675081-7675086 |
breast | carcinoma | Deletion - In frame |
c.769C>G; p.L257V; 17:7674194-7674194 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.927delC; p.N310fs*35; 17:7673601-7673601 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.769C>G; p.L257V; 17:7674194-7674194 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.927delC; p.N310fs*35; 17:7673601-7673601 |
liver | carcinoma | Deletion - Frameshift |
c.843C>T; p.D281D; 17:7673777-7673777 |
genital_tract; extragonadal | germ_cell_tumour; seminoma | Substitution - coding silent |
c.352delA; p.T118fs*5; 17:7676017-7676017 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.642T>G; p.H214Q; 17:7674889-7674889 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.843C>T; p.D281D; 17:7673777-7673777 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.180A>T; p.P60P; 17:7676189-7676189 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.843C>T; p.D281D; 17:7673777-7673777 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.226_270del45; p.A76_S90del15; 17:7676099-7676143 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm | Deletion - In frame |
c.454_455CC>TT; p.P152L; 17:7675157-7675158 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.654G>A; p.V218V; 17:7674877-7674877 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.274C>G; p.P92A; 17:7676095-7676095 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.642T>G; p.H214Q; 17:7674889-7674889 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.356C>A; p.A119D; 17:7676013-7676013 |
genital_tract; extragonadal | germ_cell_tumour; seminoma | Substitution - Missense |
c.98delC; p.L35fs*9; 17:7676271-7676271 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.732C>T; p.G244G; 17:7674231-7674231 |
stomach | carcinoma | Substitution - coding silent |
c.400T>C; p.F134L; 17:7675212-7675212 |
breast | carcinoma | Substitution - Missense |
c.814G>C; p.V272L; 17:7673806-7673806 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
liver | other; hepatoblastoma | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.400T>C; p.F134L; 17:7675212-7675212 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.860A>T; p.E287V; 17:7673760-7673760 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
liver | carcinoma | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.400T>C; p.F134L; 17:7675212-7675212 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.732C>T; p.G244G; 17:7674231-7674231 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.375+5G>C; p.?; 17:7675989-7675989 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.811G>A; p.E271K; 17:7673809-7673809 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.400T>C; p.F134L; 17:7675212-7675212 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.460G>A; p.G154S; 17:7675152-7675152 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
cervix | carcinoma | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Missense |
c.732C>T; p.G244G; 17:7674231-7674231 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.993+2T>A; p.?; 17:7673533-7673533 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.811G>A; p.E271K; 17:7673809-7673809 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.400T>C; p.F134L; 17:7675212-7675212 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.460G>A; p.G154S; 17:7675152-7675152 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.468C>G; p.R156R; 17:7675144-7675144 |
prostate | carcinoma | Substitution - coding silent |
c.964delC; p.P322fs*23; 17:7673564-7673564 |
ovary | carcinoma | Deletion - Frameshift |
c.655delC; p.Y220fs*27; 17:7674876-7674876 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.329G>T; p.R110L; 17:7676040-7676040 |
oesophagus | carcinoma | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.749_750CC>TG; p.P250L; 17:7674213-7674214 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.931A>G; p.N311D; 17:7673597-7673597 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.400T>C; p.F134L; 17:7675212-7675212 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.400T>C; p.F134L; 17:7675212-7675212 |
breast | carcinoma | Substitution - Missense |
c.993G>C; p.Q331H; 17:7673535-7673535 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.814G>C; p.V272L; 17:7673806-7673806 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.862A>T; p.N288Y; 17:7673758-7673758 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.400T>C; p.F134L; 17:7675212-7675212 |
breast | carcinoma | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.814G>C; p.V272L; 17:7673806-7673806 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.371G>C; p.C124S; 17:7675998-7675998 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.655delC; p.Y220fs*27; 17:7674876-7674876 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Deletion - Frameshift |
c.732C>T; p.G244G; 17:7674231-7674231 |
oesophagus | carcinoma | Substitution - coding silent |
c.811G>A; p.E271K; 17:7673809-7673809 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.814G>C; p.V272L; 17:7673806-7673806 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.400T>C; p.F134L; 17:7675212-7675212 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.993G>C; p.Q331H; 17:7673535-7673535 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.862A>T; p.N288Y; 17:7673758-7673758 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.765C>A; p.I255I; 17:7674198-7674198 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.329G>T; p.R110L; 17:7676040-7676040 |
breast | other; neoplasm | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.862A>T; p.N288Y; 17:7673758-7673758 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.767C>T; p.T256I; 17:7674196-7674196 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.400T>C; p.F134L; 17:7675212-7675212 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.460G>A; p.G154S; 17:7675152-7675152 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.655delC; p.Y220fs*27; 17:7674876-7674876 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.400T>C; p.F134L; 17:7675212-7675212 |
ovary | carcinoma | Substitution - Missense |
c.732C>T; p.G244G; 17:7674231-7674231 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.811G>A; p.E271K; 17:7673809-7673809 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.767C>T; p.T256I; 17:7674196-7674196 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.460G>A; p.G154S; 17:7675152-7675152 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1014_1015ins16; p.E339fs*13; 17:7670694-7670695 |
ovary | carcinoma | Insertion - Frameshift |
c.400T>C; p.F134L; 17:7675212-7675212 |
skin | malignant_melanoma | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.732C>T; p.G244G; 17:7674231-7674231 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.811G>A; p.E271K; 17:7673809-7673809 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.993G>C; p.Q331H; 17:7673535-7673535 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.400T>C; p.F134L; 17:7675212-7675212 |
vulva | carcinoma | Substitution - Missense |
c.460G>A; p.G154S; 17:7675152-7675152 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.153A>G; p.E51E; 17:7676216-7676216 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.400T>C; p.F134L; 17:7675212-7675212 |
breast | carcinoma | Substitution - Missense |
c.993G>C; p.Q331H; 17:7673535-7673535 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.351_361del11; p.T118fs*27; 17:7676008-7676018 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.811G>A; p.E271K; 17:7673809-7673809 |
ovary | other; neoplasm | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.554_555GC>CG; p.S185T; 17:7675057-7675058 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.814G>C; p.V272L; 17:7673806-7673806 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.400T>C; p.F134L; 17:7675212-7675212 |
breast | carcinoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.732C>T; p.G244G; 17:7674231-7674231 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.460G>A; p.G154S; 17:7675152-7675152 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.460G>A; p.G154S; 17:7675152-7675152 |
cervix | carcinoma | Substitution - Missense |
c.460G>A; p.G154S; 17:7675152-7675152 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.732C>T; p.G244G; 17:7674231-7674231 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.400T>C; p.F134L; 17:7675212-7675212 |
skin | malignant_melanoma | Substitution - Missense |
c.400T>C; p.F134L; 17:7675212-7675212 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.460G>A; p.G154S; 17:7675152-7675152 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.655delC; p.Y220fs*27; 17:7674876-7674876 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.796_813del18; p.G266_E271delGRNSFE; 17:7673807-7673824 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.329G>T; p.R110L; 17:7676040-7676040 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.468C>G; p.R156R; 17:7675144-7675144 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.814G>C; p.V272L; 17:7673806-7673806 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.400T>C; p.F134L; 17:7675212-7675212 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.767C>T; p.T256I; 17:7674196-7674196 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.329G>T; p.R110L; 17:7676040-7676040 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.400T>C; p.F134L; 17:7675212-7675212 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.811G>A; p.E271K; 17:7673809-7673809 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.490A>G; p.K164E; 17:7675122-7675122 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.730G>C; p.G244R; 17:7674233-7674233 |
lung | carcinoma | Substitution - Missense |
c.133_134delCT; p.L45fs*6; 17:7676235-7676236 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.725G>C; p.C242S; 17:7674238-7674238 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.376-2A>C; p.?; 17:7675238-7675238 |
central_nervous_system; brainstem | glioma; oligoastrocytoma_Grade_III | Unknown |
c.708C>G; p.Y236*; 17:7674255-7674255 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.734G>T; p.G245V; 17:7674229-7674229 |
breast | carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.943T>C; p.S315P; 17:7673585-7673585 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.730G>C; p.G244R; 17:7674233-7674233 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.725G>C; p.C242S; 17:7674238-7674238 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.490A>G; p.K164E; 17:7675122-7675122 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.490A>G; p.K164E; 17:7675122-7675122 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.730G>C; p.G244R; 17:7674233-7674233 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
breast | carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
breast | carcinoma | Substitution - Missense |
c.490A>G; p.K164E; 17:7675122-7675122 |
ovary | other; neoplasm | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>C; p.C242S; 17:7674238-7674238 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.490A>G; p.K164E; 17:7675122-7675122 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
breast | carcinoma | Substitution - Missense |
c.154C>T; p.Q52*; 17:7676215-7676215 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.734G>T; p.G245V; 17:7674229-7674229 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.353C>G; p.T118R; 17:7676016-7676016 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.708C>G; p.Y236*; 17:7674255-7674255 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.518T>A; p.V173E; 17:7675094-7675094 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>C; p.C242S; 17:7674238-7674238 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.154C>T; p.Q52*; 17:7676215-7676215 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.673G>T; p.V225F; 17:7674290-7674290 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Missense |
c.376-2A>C; p.?; 17:7675238-7675238 |
breast | carcinoma | Unknown |
c.734G>T; p.G245V; 17:7674229-7674229 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.612G>A; p.E204E; 17:7674919-7674919 |
urinary_tract; bladder | NS | Substitution - coding silent |
c.725G>C; p.C242S; 17:7674238-7674238 |
oesophagus | other; oesophagitis | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.678_679ins37; p.S227fs*14; 17:7674284-7674285 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.725G>C; p.C242S; 17:7674238-7674238 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
breast | carcinoma | Substitution - Missense |
c.725G>C; p.C242S; 17:7674238-7674238 |
pancreas | carcinoma | Substitution - Missense |
c.518T>A; p.V173E; 17:7675094-7675094 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.708C>G; p.Y236*; 17:7674255-7674255 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.734G>T; p.G245V; 17:7674229-7674229 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.490A>G; p.K164E; 17:7675122-7675122 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>C; p.C242S; 17:7674238-7674238 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.376-2A>C; p.?; 17:7675238-7675238 |
breast | carcinoma | Unknown |
c.734G>T; p.G245V; 17:7674229-7674229 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
liver | carcinoma | Substitution - Missense |
c.725G>C; p.C242S; 17:7674238-7674238 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.846delG; p.R283fs*62; 17:7673774-7673774 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.490A>G; p.K164E; 17:7675122-7675122 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.888C>G; p.H296Q; 17:7673732-7673732 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.775G>C; p.D259H; 17:7674188-7674188 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.725G>C; p.C242S; 17:7674238-7674238 |
lung | carcinoma | Substitution - Missense |
c.943T>C; p.S315P; 17:7673585-7673585 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.725G>C; p.C242S; 17:7674238-7674238 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.673G>T; p.V225F; 17:7674290-7674290 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
breast | carcinoma | Substitution - Missense |
c.160delT; p.F54fs*69; 17:7676209-7676209 |
breast | carcinoma | Deletion - Frameshift |
c.791delT; p.L264fs*81; 17:7673829-7673829 |
skin; arm | in_situ_epithelial_neoplasm; actinic_keratosis | Deletion - Frameshift |
c.490A>G; p.K164E; 17:7675122-7675122 |
breast | carcinoma | Substitution - Missense |
c.154C>T; p.Q52*; 17:7676215-7676215 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.490A>G; p.K164E; 17:7675122-7675122 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
stomach | carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.154C>T; p.Q52*; 17:7676215-7676215 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.734G>T; p.G245V; 17:7674229-7674229 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>C; p.C242S; 17:7674238-7674238 |
breast | carcinoma | Substitution - Missense |
c.864T>A; p.N288K; 17:7673756-7673756 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.490A>G; p.K164E; 17:7675122-7675122 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>C; p.C242S; 17:7674238-7674238 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.943T>C; p.S315P; 17:7673585-7673585 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.160delT; p.F54fs*69; 17:7676209-7676209 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Deletion - Frameshift |
c.734G>T; p.G245V; 17:7674229-7674229 |
liver | carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.322G>T; p.G108C; 17:7676047-7676047 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.725G>C; p.C242S; 17:7674238-7674238 |
upper_aerodigestive_tract; tonsil | carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
central_nervous_system; brain | glioma; oligoastrocytoma | Substitution - Missense |
c.725G>C; p.C242S; 17:7674238-7674238 |
thymus | thymic_carcinoma; small_cell_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>C; p.C242S; 17:7674238-7674238 |
liver | carcinoma | Substitution - Missense |
c.553A>G; p.S185G; 17:7675059-7675059 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.775G>C; p.D259H; 17:7674188-7674188 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.376-2A>C; p.?; 17:7675238-7675238 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.734G>T; p.G245V; 17:7674229-7674229 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.154C>T; p.Q52*; 17:7676215-7676215 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.734G>T; p.G245V; 17:7674229-7674229 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.154C>T; p.Q52*; 17:7676215-7676215 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.553A>G; p.S185G; 17:7675059-7675059 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.775G>C; p.D259H; 17:7674188-7674188 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.154C>T; p.Q52*; 17:7676215-7676215 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.490A>G; p.K164E; 17:7675122-7675122 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.730G>C; p.G244R; 17:7674233-7674233 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.725G>C; p.C242S; 17:7674238-7674238 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.725G>C; p.C242S; 17:7674238-7674238 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.154C>T; p.Q52*; 17:7676215-7676215 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm | Substitution - Nonsense |
c.730G>C; p.G244R; 17:7674233-7674233 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.725G>C; p.C242S; 17:7674238-7674238 |
ovary | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.154C>T; p.Q52*; 17:7676215-7676215 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Nonsense |
c.734G>T; p.G245V; 17:7674229-7674229 |
ovary | carcinoma | Substitution - Missense |
c.154C>T; p.Q52*; 17:7676215-7676215 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.490A>G; p.K164E; 17:7675122-7675122 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
lung | carcinoma | Substitution - Missense |
c.376-2A>C; p.?; 17:7675238-7675238 |
ovary | other; neoplasm | Unknown |
c.518T>A; p.V173E; 17:7675094-7675094 |
liver | carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.490A>G; p.K164E; 17:7675122-7675122 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.725G>C; p.C242S; 17:7674238-7674238 |
liver | carcinoma | Substitution - Missense |
c.725G>C; p.C242S; 17:7674238-7674238 |
pancreas | carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.490A>G; p.K164E; 17:7675122-7675122 |
breast | carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
lung | carcinoma | Substitution - Missense |
c.154C>T; p.Q52*; 17:7676215-7676215 |
prostate | carcinoma | Substitution - Nonsense |
c.734G>T; p.G245V; 17:7674229-7674229 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.475_476delGC; p.A159fs*21; 17:7675136-7675137 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.592_602del11; p.E198fs*7; 17:7674929-7674939 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.734G>T; p.G245V; 17:7674229-7674229 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.725G>C; p.C242S; 17:7674238-7674238 |
stomach | carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.518T>A; p.V173E; 17:7675094-7675094 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
oesophagus | carcinoma | Substitution - Missense |
c.612G>A; p.E204E; 17:7674919-7674919 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - coding silent |
c.734G>T; p.G245V; 17:7674229-7674229 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>T; p.G245V; 17:7674229-7674229 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.698A>G; p.H233R; 17:7674265-7674265 |
pleura | mesothelioma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
urinary_tract; bladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
breast | carcinoma | Substitution - Missense |
c.845G>A; p.R282Q; 17:7673775-7673775 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.821T>A; p.V274D; 17:7673799-7673799 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.845G>A; p.R282Q; 17:7673775-7673775 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.845G>A; p.R282Q; 17:7673775-7673775 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.845G>A; p.R282Q; 17:7673775-7673775 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.845G>A; p.R282Q; 17:7673775-7673775 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Missense |
c.845G>A; p.R282Q; 17:7673775-7673775 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.919+27G>C; p.?; 17:7673674-7673674 |
urinary_tract; bladder | carcinoma; adenocarcinoma | Unknown |
c.713G>T; p.C238F; 17:7674250-7674250 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.459C>A; p.P153P; 17:7675153-7675153 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.713G>T; p.C238F; 17:7674250-7674250 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
ovary | carcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Missense |
c.845G>A; p.R282Q; 17:7673775-7673775 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
lung | carcinoma; blastoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.466C>G; p.R156G; 17:7675146-7675146 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
meninges | meningioma; haemangiopericytic | Substitution - Missense |
c.876A>C; p.K292N; 17:7673744-7673744 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.459C>A; p.P153P; 17:7675153-7675153 |
breast | carcinoma | Substitution - coding silent |
c.713G>T; p.C238F; 17:7674250-7674250 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.845G>A; p.R282Q; 17:7673775-7673775 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.845G>A; p.R282Q; 17:7673775-7673775 |
bone | osteosarcoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
breast | carcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
ovary | other; neoplasm | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.672+25G>A; p.?; 17:7674834-7674834 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.821T>A; p.V274D; 17:7673799-7673799 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.457C>T; p.P153S; 17:7675155-7675155 |
small_intestine; duodenum | carcinoma; adenocarcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
skin; arm | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.845G>A; p.R282Q; 17:7673775-7673775 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.845G>A; p.R282Q; 17:7673775-7673775 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.821T>A; p.V274D; 17:7673799-7673799 |
ovary | carcinoma | Substitution - Missense |
c.466C>G; p.R156G; 17:7675146-7675146 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.845G>A; p.R282Q; 17:7673775-7673775 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
breast | carcinoma | Substitution - Missense |
c.457C>T; p.P153S; 17:7675155-7675155 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.821T>A; p.V274D; 17:7673799-7673799 |
stomach | adenocarcinoma | Substitution - Missense |
c.845G>A; p.R282Q; 17:7673775-7673775 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
stomach | carcinoid-endocrine_tumour | Substitution - Missense |
c.845G>A; p.R282Q; 17:7673775-7673775 |
vulva | carcinoma | Substitution - Missense |
c.375+5G>T; p.?; 17:7675989-7675989 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.919+10C>T; p.?; 17:7673691-7673691 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.845G>A; p.R282Q; 17:7673775-7673775 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.821T>A; p.V274D; 17:7673799-7673799 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.845G>A; p.R282Q; 17:7673775-7673775 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.845G>A; p.R282Q; 17:7673775-7673775 |
breast | carcinoma | Substitution - Missense |
c.876A>C; p.K292N; 17:7673744-7673744 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.457C>T; p.P153S; 17:7675155-7675155 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.845G>A; p.R282Q; 17:7673775-7673775 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.845G>A; p.R282Q; 17:7673775-7673775 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.457C>T; p.P153S; 17:7675155-7675155 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.457C>T; p.P153S; 17:7675155-7675155 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.457C>T; p.P153S; 17:7675155-7675155 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.466C>G; p.R156G; 17:7675146-7675146 |
breast | carcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
breast | carcinoma | Substitution - Missense |
c.845G>A; p.R282Q; 17:7673775-7673775 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
breast | carcinoma | Substitution - Missense |
c.821T>A; p.V274D; 17:7673799-7673799 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; MALT_lymphoma | Substitution - Missense |
c.457C>T; p.P153S; 17:7675155-7675155 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.518_519delTG; p.V173fs*7; 17:7675093-7675094 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.713G>T; p.C238F; 17:7674250-7674250 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.845G>A; p.R282Q; 17:7673775-7673775 |
bone | osteosarcoma | Substitution - Missense |
c.845G>A; p.R282Q; 17:7673775-7673775 |
prostate | carcinoma | Substitution - Missense |
c.688A>G; p.T230A; 17:7674275-7674275 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.821T>A; p.V274D; 17:7673799-7673799 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
lung | carcinoma; pleomorphic_carcinoma | Substitution - Missense |
c.980_981insAA; p.Y327fs*1; 17:7673547-7673548 |
breast | carcinoma | Insertion - Frameshift |
c.269C>T; p.S90F; 17:7676100-7676100 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.845G>A; p.R282Q; 17:7673775-7673775 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.845G>A; p.R282Q; 17:7673775-7673775 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.845G>A; p.R282Q; 17:7673775-7673775 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.772delG; p.E258fs*87; 17:7674191-7674191 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Deletion - Frameshift |
c.845G>A; p.R282Q; 17:7673775-7673775 |
bone | osteosarcoma | Substitution - Missense |
c.821T>A; p.V274D; 17:7673799-7673799 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.821T>A; p.V274D; 17:7673799-7673799 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; MALT_lymphoma | Substitution - Missense |
c.457C>T; p.P153S; 17:7675155-7675155 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.503_507ACATG>TCATT; p.H168_M169>LI; 17:7675105-7675109 |
lung | carcinoma; non_small_cell_carcinoma | Complex - compound substitution |
c.713G>T; p.C238F; 17:7674250-7674250 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.821T>A; p.V274D; 17:7673799-7673799 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.821T>A; p.V274D; 17:7673799-7673799 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.229_230delCC; p.P77fs*71; 17:7676139-7676140 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.713G>T; p.C238F; 17:7674250-7674250 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
ovary | other; neoplasm | Substitution - Missense |
c.375+5G>T; p.?; 17:7675989-7675989 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.713G>T; p.C238F; 17:7674250-7674250 |
breast | carcinoma | Substitution - Missense |
c.713G>T; p.C238F; 17:7674250-7674250 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.850A>C; p.T284P; 17:7673770-7673770 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.394A>C; p.K132Q; 17:7675218-7675218 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.743G>C; p.R248P; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.743G>C; p.R248P; 17:7674220-7674220 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.743G>C; p.R248P; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.596G>T; p.G199V; 17:7674935-7674935 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.216_217insC; p.V73fs*76; 17:7676152-7676153 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.949C>T; p.Q317*; 17:7673579-7673579 |
skin | malignant_melanoma | Substitution - Nonsense |
c.175G>T; p.G59C; 17:7676194-7676194 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.565_566delGC; p.A189fs*19; 17:7674965-7674966 |
upper_aerodigestive_tract; larynx | carcinoma | Deletion - Frameshift |
c.394A>C; p.K132Q; 17:7675218-7675218 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.202G>T; p.E68*; 17:7676167-7676167 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
pancreas | carcinoma | Substitution - Nonsense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
breast | carcinoma | Substitution - Nonsense |
c.1040C>G; p.A347G; 17:7670669-7670669 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Nonsense |
c.454_455delCC; p.P152fs*28; 17:7675157-7675158 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.949C>T; p.Q317*; 17:7673579-7673579 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.202G>T; p.E68*; 17:7676167-7676167 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.376-2A>T; p.?; 17:7675238-7675238 |
lung | carcinoma; adenocarcinoma | Unknown |
c.949C>T; p.Q317*; 17:7673579-7673579 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.743G>C; p.R248P; 17:7674220-7674220 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.596G>T; p.G199V; 17:7674935-7674935 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Nonsense |
c.394A>C; p.K132Q; 17:7675218-7675218 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
skin | malignant_melanoma | Substitution - Nonsense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.596G>T; p.G199V; 17:7674935-7674935 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.394A>C; p.K132Q; 17:7675218-7675218 |
skin | malignant_melanoma | Substitution - Missense |
c.394A>C; p.K132Q; 17:7675218-7675218 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.202G>T; p.E68*; 17:7676167-7676167 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.323_324insNNNNNNNNN; p.G108_F109insXXX; 17:7676045-7676046 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - In frame |
c.808T>G; p.F270V; 17:7673812-7673812 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
breast | carcinoma | Substitution - Nonsense |
c.898C>T; p.P300S; 17:7673722-7673722 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.808T>G; p.F270V; 17:7673812-7673812 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.743G>C; p.R248P; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.850A>C; p.T284P; 17:7673770-7673770 |
breast | carcinoma | Substitution - Missense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.808T>G; p.F270V; 17:7673812-7673812 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.202G>T; p.E68*; 17:7676167-7676167 |
liver | carcinoma | Substitution - Nonsense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.808T>G; p.F270V; 17:7673812-7673812 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.808T>G; p.F270V; 17:7673812-7673812 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.532C>G; p.H178D; 17:7675080-7675080 |
thyroid | carcinoma | Substitution - Missense |
c.596G>T; p.G199V; 17:7674935-7674935 |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma; SHH_subtype | Substitution - Missense |
c.238C>T; p.P80S; 17:7676131-7676131 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>C; p.R248P; 17:7674220-7674220 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
breast | carcinoma | Substitution - Nonsense |
c.549_550insA; p.D184fs*2; 17:7675062-7675063 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.850A>C; p.T284P; 17:7673770-7673770 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.850A>C; p.T284P; 17:7673770-7673770 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.394A>C; p.K132Q; 17:7675218-7675218 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.216_217insC; p.V73fs*76; 17:7676152-7676153 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.743G>C; p.R248P; 17:7674220-7674220 |
skin | carcinoma; Merkel_cell_carcinoma | Substitution - Missense |
c.202G>T; p.E68*; 17:7676167-7676167 |
lung; left_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.394A>C; p.K132Q; 17:7675218-7675218 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.394A>C; p.K132Q; 17:7675218-7675218 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>C; p.R248P; 17:7674220-7674220 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.394A>C; p.K132Q; 17:7675218-7675218 |
pancreas | carcinoma | Substitution - Missense |
c.596G>T; p.G199V; 17:7674935-7674935 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.532C>G; p.H178D; 17:7675080-7675080 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.850A>C; p.T284P; 17:7673770-7673770 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.901delC; p.P301fs*44; 17:7673719-7673719 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.743G>C; p.R248P; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.596G>T; p.G199V; 17:7674935-7674935 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
pancreas | carcinoma | Substitution - Nonsense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.743G>C; p.R248P; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.394A>C; p.K132Q; 17:7675218-7675218 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.739A>T; p.N247Y; 17:7674224-7674224 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.596G>T; p.G199V; 17:7674935-7674935 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Missense |
c.743G>C; p.R248P; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>C; p.R248P; 17:7674220-7674220 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.532C>G; p.H178D; 17:7675080-7675080 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ | Substitution - Missense |
c.901delC; p.P301fs*44; 17:7673719-7673719 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.532C>G; p.H178D; 17:7675080-7675080 |
lung | carcinoma | Substitution - Missense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Nonsense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
skin | malignant_melanoma | Substitution - Nonsense |
c.175G>T; p.G59C; 17:7676194-7676194 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.898C>T; p.P300S; 17:7673722-7673722 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.743G>C; p.R248P; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.654_655insG; p.P219fs*3; 17:7674876-7674877 |
large_intestine; rectum | NS | Insertion - Frameshift |
c.216_217insC; p.V73fs*76; 17:7676152-7676153 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.949C>T; p.Q317*; 17:7673579-7673579 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.850A>C; p.T284P; 17:7673770-7673770 |
ovary | carcinoma | Substitution - Missense |
c.202G>T; p.E68*; 17:7676167-7676167 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Nonsense |
c.596G>T; p.G199V; 17:7674935-7674935 |
breast | carcinoma | Substitution - Missense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
oesophagus | carcinoma | Substitution - Nonsense |
c.743G>C; p.R248P; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.202G>T; p.E68*; 17:7676167-7676167 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.596G>T; p.G199V; 17:7674935-7674935 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma | Substitution - Missense |
c.216_217insC; p.V73fs*76; 17:7676152-7676153 |
lung | carcinoma; mixed_small_cell_carcinoma-adenocarcinoma | Insertion - Frameshift |
c.202G>T; p.E68*; 17:7676167-7676167 |
liver | carcinoma | Substitution - Nonsense |
c.715_717AAC>TAA; p.N239*; 17:7674246-7674248 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.376-2A>T; p.?; 17:7675238-7675238 |
breast | carcinoma; ductal_carcinoma | Unknown |
c.949C>T; p.Q317*; 17:7673579-7673579 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.743G>C; p.R248P; 17:7674220-7674220 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.532C>G; p.H178D; 17:7675080-7675080 |
bone | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | Substitution - Missense |
c.743G>C; p.R248P; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.808T>G; p.F270V; 17:7673812-7673812 |
testis | germ_cell_tumour; seminoma | Substitution - Missense |
c.394A>C; p.K132Q; 17:7675218-7675218 |
prostate | carcinoma | Substitution - Missense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
skin | malignant_melanoma | Substitution - Nonsense |
c.816G>A; p.V272V; 17:7673804-7673804 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.898C>T; p.P300S; 17:7673722-7673722 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.703_708delAACTAC; p.N235_Y236delNY; 17:7674255-7674260 |
central_nervous_system; brain | glioma; oligoastrocytoma | Deletion - In frame |
c.949C>T; p.Q317*; 17:7673579-7673579 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Nonsense |
c.376-2A>T; p.?; 17:7675238-7675238 |
liver | carcinoma | Unknown |
c.743G>C; p.R248P; 17:7674220-7674220 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.202G>T; p.E68*; 17:7676167-7676167 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.743G>C; p.R248P; 17:7674220-7674220 |
lung | carcinoma | Substitution - Missense |
c.967C>A; p.L323M; 17:7673561-7673561 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Nonsense |
c.743G>C; p.R248P; 17:7674220-7674220 |
lung | carcinoma | Substitution - Missense |
c.430C>A; p.Q144K; 17:7675182-7675182 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.673-9A>G; p.?; 17:7674299-7674299 |
soft_tissue; fibrous_tissue_and_uncertain_o | malignant_melanoma_of_soft_parts-clear_cell_sarcoma | Unknown |
c.403_414del12; p.C135_A138delCQLA; 17:7675198-7675209 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Deletion - In frame |
c.739A>T; p.N247Y; 17:7674224-7674224 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.394A>C; p.K132Q; 17:7675218-7675218 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.739A>T; p.N247Y; 17:7674224-7674224 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.202G>T; p.E68*; 17:7676167-7676167 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.596G>T; p.G199V; 17:7674935-7674935 |
ovary | carcinoma | Substitution - Missense |
c.596G>T; p.G199V; 17:7674935-7674935 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
skin; mucosal | malignant_melanoma | Substitution - Nonsense |
c.850A>C; p.T284P; 17:7673770-7673770 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Substitution - Missense |
c.202G>T; p.E68*; 17:7676167-7676167 |
pancreas | carcinoma | Substitution - Nonsense |
c.394A>C; p.K132Q; 17:7675218-7675218 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Missense |
c.216_217insC; p.V73fs*76; 17:7676152-7676153 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.808T>G; p.F270V; 17:7673812-7673812 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
skin | malignant_melanoma | Substitution - Nonsense |
c.850A>C; p.T284P; 17:7673770-7673770 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.808T>G; p.F270V; 17:7673812-7673812 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Missense |
c.949C>T; p.Q317*; 17:7673579-7673579 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1176_1179delAGAC; p.D393fs?; 17:7669612-7669615 |
large_intestine; rectum | carcinoma | Deletion - Frameshift |
c.949C>T; p.Q317*; 17:7673579-7673579 |
ovary | carcinoma | Substitution - Nonsense |
c.763_765delATC; p.I255delI; 17:7674198-7674200 |
pancreas | carcinoma; ductal_carcinoma | Deletion - In frame |
c.485T>G; p.I162S; 17:7675127-7675127 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.993+11T>C; p.?; 17:7673524-7673524 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.752T>G; p.I251S; 17:7674211-7674211 |
breast | carcinoma | Substitution - Missense |
c.741_742CC>TT; p.R248W; 17:7674221-7674222 |
breast | carcinoma | Substitution - Missense |
c.468_487del?; p.?; 17:7675145-7675164 |
skin; head_neck | malignant_melanoma; superficial_spreading | Unknown |
c.741_742CC>TT; p.R248W; 17:7674221-7674222 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.752T>G; p.I251S; 17:7674211-7674211 |
ovary | carcinoma | Substitution - Missense |
c.476C>A; p.A159D; 17:7675136-7675136 |
central_nervous_system; brain | glioma; oligoastrocytoma | Substitution - Missense |
c.489C>A; p.Y163*; 17:7675123-7675123 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.215G>A; p.R72H; 17:7676154-7676154 |
ovary | carcinoma | Substitution - Missense |
c.752T>G; p.I251S; 17:7674211-7674211 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.704A>G; p.N235S; 17:7674259-7674259 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.207T>C; p.A69A; 17:7676162-7676162 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.704A>G; p.N235S; 17:7674259-7674259 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.772G>C; p.E258Q; 17:7674191-7674191 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.704A>G; p.N235S; 17:7674259-7674259 |
prostate | carcinoma | Substitution - Missense |
c.772G>C; p.E258Q; 17:7674191-7674191 |
breast | carcinoma | Substitution - Missense |
c.741_742CC>TT; p.R248W; 17:7674221-7674222 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.741_742CC>TT; p.R248W; 17:7674221-7674222 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.741_742CC>TT; p.R248W; 17:7674221-7674222 |
skin; arm | in_situ_epithelial_neoplasm; Bowen_disease | Substitution - Missense |
c.772G>C; p.E258Q; 17:7674191-7674191 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.485T>G; p.I162S; 17:7675127-7675127 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.772G>C; p.E258Q; 17:7674191-7674191 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.752T>G; p.I251S; 17:7674211-7674211 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.476C>A; p.A159D; 17:7675136-7675136 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.704A>G; p.N235S; 17:7674259-7674259 |
thymus | thymoma | Substitution - Missense |
c.772G>C; p.E258Q; 17:7674191-7674191 |
breast | carcinoma | Substitution - Missense |
c.741_742CC>TT; p.R248W; 17:7674221-7674222 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.489C>A; p.Y163*; 17:7675123-7675123 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.763_765delATC; p.I255delI; 17:7674198-7674200 |
urinary_tract; bladder | carcinoma | Deletion - In frame |
c.993+11T>C; p.?; 17:7673524-7673524 |
breast | carcinoma | Unknown |
c.476C>A; p.A159D; 17:7675136-7675136 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.173C>A; p.P58Q; 17:7676196-7676196 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.741_742CC>TT; p.R248W; 17:7674221-7674222 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.741_742CC>TT; p.R248W; 17:7674221-7674222 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.741_742CC>TT; p.R248W; 17:7674221-7674222 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.741_742CC>TT; p.R248W; 17:7674221-7674222 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.619G>A; p.D207N; 17:7674912-7674912 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.704A>G; p.N235S; 17:7674259-7674259 |
central_nervous_system; frontal_lobe | glioma; astrocytoma | Substitution - Missense |
c.763_765delATC; p.I255delI; 17:7674198-7674200 |
breast | carcinoma | Deletion - In frame |
c.704A>G; p.N235S; 17:7674259-7674259 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.816_817insN; p.R273fs*33; 17:7673803-7673804 |
endometrium | carcinoma | Insertion - Frameshift |
c.763_765delATC; p.I255delI; 17:7674198-7674200 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.752T>G; p.I251S; 17:7674211-7674211 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.741_742CC>TT; p.R248W; 17:7674221-7674222 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.485T>G; p.I162S; 17:7675127-7675127 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.704A>G; p.N235S; 17:7674259-7674259 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.763_765delATC; p.I255delI; 17:7674198-7674200 |
central_nervous_system; frontoparietal | glioma; astrocytoma_Grade_IV | Deletion - In frame |
c.763_765delATC; p.I255delI; 17:7674198-7674200 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.704A>G; p.N235S; 17:7674259-7674259 |
central_nervous_system; brain | glioma; astrocytoma_Grade_I | Substitution - Missense |
c.741_742CC>TT; p.R248W; 17:7674221-7674222 |
breast | carcinoma | Substitution - Missense |
c.476C>A; p.A159D; 17:7675136-7675136 |
central_nervous_system; medulla | primitive_neuroectodermal_tumour-medulloblastoma; classic | Substitution - Missense |
c.704A>G; p.N235S; 17:7674259-7674259 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.741_742CC>TT; p.R248W; 17:7674221-7674222 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Substitution - Missense |
c.704A>G; p.N235S; 17:7674259-7674259 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.772G>C; p.E258Q; 17:7674191-7674191 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.741_742CC>TT; p.R248W; 17:7674221-7674222 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.741_742CC>TT; p.R248W; 17:7674221-7674222 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.752T>G; p.I251S; 17:7674211-7674211 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Substitution - Missense |
c.704A>G; p.N235S; 17:7674259-7674259 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.752T>G; p.I251S; 17:7674211-7674211 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.466_467insN; p.R156fs*25; 17:7675145-7675146 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Insertion - Frameshift |
c.485T>G; p.I162S; 17:7675127-7675127 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.763_765delATC; p.I255delI; 17:7674198-7674200 |
breast | carcinoma | Deletion - In frame |
c.772G>C; p.E258Q; 17:7674191-7674191 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.741_742CC>TT; p.R248W; 17:7674221-7674222 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.576G>C; p.Q192H; 17:7674955-7674955 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.489C>A; p.Y163*; 17:7675123-7675123 |
liver | carcinoma | Substitution - Nonsense |
c.752T>G; p.I251S; 17:7674211-7674211 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.741_742CC>TT; p.R248W; 17:7674221-7674222 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.772G>C; p.E258Q; 17:7674191-7674191 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.476C>A; p.A159D; 17:7675136-7675136 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.476C>A; p.A159D; 17:7675136-7675136 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.741_742CC>TT; p.R248W; 17:7674221-7674222 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.173C>A; p.P58Q; 17:7676196-7676196 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.215G>A; p.R72H; 17:7676154-7676154 |
ovary | carcinoma | Substitution - Missense |
c.741_742CC>TT; p.R248W; 17:7674221-7674222 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.752T>G; p.I251S; 17:7674211-7674211 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.485T>G; p.I162S; 17:7675127-7675127 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.752T>G; p.I251S; 17:7674211-7674211 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.704A>G; p.N235S; 17:7674259-7674259 |
breast | carcinoma | Substitution - Missense |
c.763_765delATC; p.I255delI; 17:7674198-7674200 |
breast | carcinoma | Deletion - In frame |
c.704A>G; p.N235S; 17:7674259-7674259 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.772G>C; p.E258Q; 17:7674191-7674191 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.752T>G; p.I251S; 17:7674211-7674211 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.752T>G; p.I251S; 17:7674211-7674211 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.704A>G; p.N235S; 17:7674259-7674259 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.230C>T; p.P77L; 17:7676139-7676139 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.476C>A; p.A159D; 17:7675136-7675136 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.741_742CC>TT; p.R248W; 17:7674221-7674222 |
skin; head_neck | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.704A>G; p.N235S; 17:7674259-7674259 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
prostate | carcinoma | Substitution - Missense |
c.449C>T; p.T150I; 17:7675163-7675163 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.559+3G>C; p.?; 17:7675050-7675050 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; classic | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.994-2A>C; p.?; 17:7670717-7670717 |
ovary | other; neoplasm | Unknown |
c.743G>A; p.R248Q; 17:7674220-7674220 |
skin; groin | adnexal_tumour; malignant_adnexal_tumour | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | other; neoplasm | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.559G>A; p.G187S; 17:7675053-7675053 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.449C>T; p.T150I; 17:7675163-7675163 |
stomach | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.559G>A; p.G187S; 17:7675053-7675053 |
skin | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma | Substitution - Missense |
c.776A>T; p.D259V; 17:7674187-7674187 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.994-2A>C; p.?; 17:7670717-7670717 |
central_nervous_system; brain | glioma | Unknown |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.833delC; p.P278fs*67; 17:7673787-7673787 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.776A>T; p.D259V; 17:7674187-7674187 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
bone | osteosarcoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.775G>T; p.D259Y; 17:7674188-7674188 |
ovary | carcinoma; undifferentiated_carcinoma | Substitution - Missense |
c.776A>T; p.D259V; 17:7674187-7674187 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.825T>C; p.C275C; 17:7673795-7673795 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.775G>T; p.D259Y; 17:7674188-7674188 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.776A>T; p.D259V; 17:7674187-7674187 |
pancreas | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
thyroid | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
pancreas | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Missense |
c.833delC; p.P278fs*67; 17:7673787-7673787 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.775G>T; p.D259Y; 17:7674188-7674188 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
pleura | mesothelioma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
prostate | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.776A>T; p.D259V; 17:7674187-7674187 |
skin; face | in_situ_epithelial_neoplasm | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | adenoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
kidney | Wilms_tumour | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
pancreas | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
pancreas | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
endometrium | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
skin; arm | adnexal_tumour; malignant_adnexal_tumour | Substitution - Missense |
c.559G>A; p.G187S; 17:7675053-7675053 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.449C>T; p.T150I; 17:7675163-7675163 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.947C>T; p.P316L; 17:7673581-7673581 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; classic | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.559+3G>C; p.?; 17:7675050-7675050 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.833delC; p.P278fs*67; 17:7673787-7673787 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; large_cell | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; MALT_lymphoma | Substitution - Missense |
c.459C>T; p.P153P; 17:7675153-7675153 |
breast | carcinoma | Substitution - coding silent |
c.743G>A; p.R248Q; 17:7674220-7674220 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; choroid_plexus | other; choroid_plexus_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
pancreas | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.801_802delGA; p.N268fs*3; 17:7673818-7673819 |
vulva | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_essential_thrombocythaemia | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.775G>T; p.D259Y; 17:7674188-7674188 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.568delC; p.P190fs*57; 17:7674963-7674963 |
lung | carcinoma; small_cell_carcinoma | Deletion - Frameshift |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.776A>T; p.D259V; 17:7674187-7674187 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.775G>T; p.D259Y; 17:7674188-7674188 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
small_intestine; duodenum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
pituitary | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma | Substitution - Missense |
c.559G>A; p.G187S; 17:7675053-7675053 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.559G>A; p.G187S; 17:7675053-7675053 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.445T>A; p.S149T; 17:7675167-7675167 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.459C>T; p.P153P; 17:7675153-7675153 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.559G>A; p.G187S; 17:7675053-7675053 |
bone; femur | chondrosarcoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.776A>T; p.D259V; 17:7674187-7674187 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.825T>C; p.C275C; 17:7673795-7673795 |
stomach | adenoma | Substitution - coding silent |
c.894_895insN; p.L299fs*7; 17:7673725-7673726 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.743G>A; p.R248Q; 17:7674220-7674220 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
pancreas | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.559G>A; p.G187S; 17:7675053-7675053 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.775G>T; p.D259Y; 17:7674188-7674188 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.775G>T; p.D259Y; 17:7674188-7674188 |
oesophagus | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
skin; leg | adnexal_tumour; malignant_adnexal_tumour | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma | Substitution - Missense |
c.775G>T; p.D259Y; 17:7674188-7674188 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
cervix | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
thyroid | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
pancreas | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.775G>T; p.D259Y; 17:7674188-7674188 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; undifferentiated_adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.775G>T; p.D259Y; 17:7674188-7674188 |
liver | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.775G>T; p.D259Y; 17:7674188-7674188 |
oesophagus | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.559G>A; p.G187S; 17:7675053-7675053 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.947C>T; p.P316L; 17:7673581-7673581 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; undifferentiated_adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; parietal_lobe | glioma; oligodendroglioma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.776A>T; p.D259V; 17:7674187-7674187 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.775G>T; p.D259Y; 17:7674188-7674188 |
ovary | other; neoplasm | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
kidney | Wilms_tumour | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.445T>A; p.S149T; 17:7675167-7675167 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
skin | malignant_melanoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
liver | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma; Brenner_tumour | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
pancreas | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
pancreas | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
bone | osteosarcoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
NS | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.776A>T; p.D259V; 17:7674187-7674187 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; thalamus | glioma; oligodendroglioma_Grade_III | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.1016_1018delAGA; p.E339_M340>V; 17:7670691-7670693 |
kidney | Wilms_tumour | Complex - deletion inframe |
c.743G>A; p.R248Q; 17:7674220-7674220 |
small_intestine; ileum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
prostate | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
endometrium | carcinoma; clear_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
skin | adnexal_tumour; malignant_adnexal_tumour | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.834T>C; p.P278P; 17:7673786-7673786 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; lymphomatoid_papulosis | Substitution - coding silent |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.525C>G; p.R175R; 17:7675087-7675087 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; frontal_lobe | glioma; astrocytoma | Substitution - Missense |
c.775G>T; p.D259Y; 17:7674188-7674188 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.776A>T; p.D259V; 17:7674187-7674187 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.775G>T; p.D259Y; 17:7674188-7674188 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.775G>T; p.D259Y; 17:7674188-7674188 |
large_intestine; colon | other; dysplasia | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; frontal_lobe | glioma; astrocytoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.608_609delTG; p.V203fs*5; 17:7674922-7674923 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.559G>A; p.G187S; 17:7675053-7675053 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.775G>T; p.D259Y; 17:7674188-7674188 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
pancreas | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma | Substitution - Missense |
c.775G>T; p.D259Y; 17:7674188-7674188 |
oesophagus | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.775G>T; p.D259Y; 17:7674188-7674188 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.559G>A; p.G187S; 17:7675053-7675053 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; undifferentiated_adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.618G>C; p.L206F; 17:7674913-7674913 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.894_895insN; p.L299fs*7; 17:7673725-7673726 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.449C>T; p.T150I; 17:7675163-7675163 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | other; neoplasm | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
pancreas | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.776A>T; p.D259V; 17:7674187-7674187 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.775G>T; p.D259Y; 17:7674188-7674188 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | other; neoplasm | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma | Substitution - Missense |
c.894_895insN; p.L299fs*7; 17:7673725-7673726 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
adrenal_gland; adrenal_gland | pheochromocytoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; medulla | primitive_neuroectodermal_tumour-medulloblastoma; classic | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.559G>A; p.G187S; 17:7675053-7675053 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.631A>C; p.T211P; 17:7674900-7674900 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.825T>C; p.C275C; 17:7673795-7673795 |
stomach | carcinoid-endocrine_tumour | Substitution - coding silent |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
bone | osteosarcoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma; SHH_subtype | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.818delG; p.R273fs*72; 17:7673802-7673802 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.502_511del10; p.H168fs*3; 17:7675101-7675110 |
skin; arm | in_situ_epithelial_neoplasm; Bowen_disease | Deletion - Frameshift |
c.743G>A; p.R248Q; 17:7674220-7674220 |
prostate | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung; bronchus | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
small_intestine; duodenum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_essential_thrombocythaemia | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
small_intestine; ileum | carcinoma; adenocarcinoma | Substitution - Missense |
c.775G>T; p.D259Y; 17:7674188-7674188 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.459C>T; p.P153P; 17:7675153-7675153 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.776A>T; p.D259V; 17:7674187-7674187 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.559G>A; p.G187S; 17:7675053-7675053 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | other; neoplasm | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.776A>T; p.D259V; 17:7674187-7674187 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.894_895insN; p.L299fs*7; 17:7673725-7673726 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
skin; lip | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; ureter | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.525C>G; p.R175R; 17:7675087-7675087 |
bone | other; ameloblastoma | Substitution - coding silent |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; oligoastrocytoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
skin; trunk | benign_melanocytic_nevus; dysplastic | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
small_intestine; duodenum | carcinoma; adenocarcinoma | Substitution - Missense |
c.459C>T; p.P153P; 17:7675153-7675153 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.776A>T; p.D259V; 17:7674187-7674187 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
skin | malignant_melanoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | other; neoplasm | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Missense |
c.410_411insA; p.A138fs*11; 17:7675201-7675202 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Insertion - Frameshift |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.559G>A; p.G187S; 17:7675053-7675053 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
pancreas | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.559G>A; p.G187S; 17:7675053-7675053 |
skin | malignant_melanoma | Substitution - Missense |
c.459C>T; p.P153P; 17:7675153-7675153 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.459C>T; p.P153P; 17:7675153-7675153 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.776A>T; p.D259V; 17:7674187-7674187 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
bone | osteosarcoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.775G>T; p.D259Y; 17:7674188-7674188 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.775G>T; p.D259Y; 17:7674188-7674188 |
oesophagus | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
skin | malignant_melanoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.776A>T; p.D259V; 17:7674187-7674187 |
lung | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.825T>C; p.C275C; 17:7673795-7673795 |
breast | hyperplasia | Substitution - coding silent |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.199delC; p.P67fs*56; 17:7676170-7676170 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - Frameshift |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
breast | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.559G>A; p.G187S; 17:7675053-7675053 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm | Substitution - Missense |
c.919+1C>T; p.?; 17:7673700-7673700 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.743G>A; p.R248Q; 17:7674220-7674220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.775G>T; p.D259Y; 17:7674188-7674188 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
skin; groin | adnexal_tumour; malignant_adnexal_tumour | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.559G>A; p.G187S; 17:7675053-7675053 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.776A>T; p.D259V; 17:7674187-7674187 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.559G>A; p.G187S; 17:7675053-7675053 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.743G>A; p.R248Q; 17:7674220-7674220 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.824G>C; p.C275S; 17:7673796-7673796 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.916C>T; p.R306*; 17:7673704-7673704 |
bone | osteosarcoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.247_262del16; p.A83fs*35; 17:7676107-7676122 |
ovary | carcinoma; mucinous_carcinoma | Deletion - Frameshift |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
ovary | carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma | Substitution - Nonsense |
c.612G>C; p.E204D; 17:7674919-7674919 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1020G>A; p.M340I; 17:7670689-7670689 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.916C>T; p.R306*; 17:7673704-7673704 |
pancreas | carcinoma | Substitution - Nonsense |
c.391A>C; p.N131H; 17:7675221-7675221 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.845G>T; p.R282L; 17:7673775-7673775 |
skin; head_neck | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.916C>T; p.R306*; 17:7673704-7673704 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
ovary | carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
ovary | carcinoma | Substitution - Nonsense |
c.574_576delCAG; p.Q192delQ; 17:7674955-7674957 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - In frame |
c.267delC; p.S90fs*33; 17:7676102-7676102 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.612G>C; p.E204D; 17:7674919-7674919 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.727A>G; p.M243V; 17:7674236-7674236 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.679_696del18; p.S227_I232delSDCTTI; 17:7674267-7674284 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Deletion - In frame |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
pancreas | carcinoma | Substitution - Nonsense |
c.595delG; p.G199fs*48; 17:7674936-7674936 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.727A>G; p.M243V; 17:7674236-7674236 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.916C>T; p.R306*; 17:7673704-7673704 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.824G>C; p.C275S; 17:7673796-7673796 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; rectum | carcinoma | Substitution - Nonsense |
c.376-1G>T; p.?; 17:7675237-7675237 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Unknown |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.376-1G>T; p.?; 17:7675237-7675237 |
pancreas | carcinoma | Unknown |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
ovary | carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
stomach | adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
endometrium | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.662_672+40del51; p.E221fs*4; 17:7674859-7674869 |
skin | malignant_melanoma | Deletion - Frameshift |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.824G>C; p.C275S; 17:7673796-7673796 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.916C>T; p.R306*; 17:7673704-7673704 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.845G>T; p.R282L; 17:7673775-7673775 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.959delA; p.K320fs*25; 17:7673569-7673569 |
ovary | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.916C>T; p.R306*; 17:7673704-7673704 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.376-1G>T; p.?; 17:7675237-7675237 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.845G>T; p.R282L; 17:7673775-7673775 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
ovary | carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Nonsense |
c.376-1G>T; p.?; 17:7675237-7675237 |
pancreas | carcinoma | Unknown |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
oesophagus | other; Barrett_oesophagus | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
ovary | carcinoma | Substitution - Nonsense |
c.506_507insN; p.M169fs*12; 17:7675105-7675106 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.391A>C; p.N131H; 17:7675221-7675221 |
large_intestine; colon | adenoma; tubular | Substitution - Missense |
c.802_803AA>TT; p.N268F; 17:7673817-7673818 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
NS | NS | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
pancreas | carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
upper_aerodigestive_tract; pharynx | carcinoma; poorly_differentiated_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.376-1G>T; p.?; 17:7675237-7675237 |
skin; back | malignant_melanoma | Unknown |
c.267delC; p.S90fs*33; 17:7676102-7676102 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.916C>T; p.R306*; 17:7673704-7673704 |
ovary | other; neoplasm | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; colon | adenoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.376-1G>T; p.?; 17:7675237-7675237 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Nonsense |
c.824G>C; p.C275S; 17:7673796-7673796 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.916C>T; p.R306*; 17:7673704-7673704 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.459delC; p.G154fs*16; 17:7675153-7675153 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.916C>T; p.R306*; 17:7673704-7673704 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
stomach | adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.102delC; p.L35fs*9; 17:7676267-7676267 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.916C>T; p.R306*; 17:7673704-7673704 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.629A>C; p.N210T; 17:7674902-7674902 |
breast | carcinoma | Substitution - Missense |
c.916C>T; p.R306*; 17:7673704-7673704 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
pancreas | other; dysplasia-in_situ_neoplasm | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
pancreas | carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.974G>T; p.G325V; 17:7673554-7673554 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.376-1G>T; p.?; 17:7675237-7675237 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
central_nervous_system; thalamus | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.376-1G>T; p.?; 17:7675237-7675237 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.916C>T; p.R306*; 17:7673704-7673704 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
breast | carcinoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Nonsense |
c.916C>T; p.R306*; 17:7673704-7673704 |
oesophagus | carcinoma | Substitution - Nonsense |
c.376-1G>T; p.?; 17:7675237-7675237 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.727A>G; p.M243V; 17:7674236-7674236 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; MALT_lymphoma | Substitution - Missense |
c.916C>T; p.R306*; 17:7673704-7673704 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.376-1G>T; p.?; 17:7675237-7675237 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.916C>T; p.R306*; 17:7673704-7673704 |
pancreas | carcinoma | Substitution - Nonsense |
c.730G>T; p.G244C; 17:7674233-7674233 |
haematopoietic_and_lymphoid_tissue; abdomen | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.886C>T; p.H296Y; 17:7673734-7673734 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.886C>T; p.H296Y; 17:7673734-7673734 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.706T>C; p.Y236H; 17:7674257-7674257 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.726C>G; p.C242W; 17:7674237-7674237 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.874_875delAA; p.K292fs*13; 17:7673745-7673746 |
stomach | carcinoma | Deletion - Frameshift |
c.463_468delACCCGC; p.T155_R156delTR; 17:7675144-7675149 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.730G>T; p.G244C; 17:7674233-7674233 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.726C>G; p.C242W; 17:7674237-7674237 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.726C>G; p.C242W; 17:7674237-7674237 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.645T>A; p.S215R; 17:7674886-7674886 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.645T>A; p.S215R; 17:7674886-7674886 |
liver | carcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.706T>C; p.Y236H; 17:7674257-7674257 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.472C>T; p.R158C; 17:7675140-7675140 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.693C>T; p.T231T; 17:7674270-7674270 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.650T>C; p.V217A; 17:7674881-7674881 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
lung | carcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.726C>G; p.C242W; 17:7674237-7674237 |
breast | carcinoma | Substitution - Missense |
c.723_727delCTGCA; p.C242fs*20; 17:7674236-7674240 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia | Deletion - Frameshift |
c.467G>A; p.R156H; 17:7675145-7675145 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.706T>C; p.Y236H; 17:7674257-7674257 |
eye; conjunctiva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.726C>G; p.C242W; 17:7674237-7674237 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
liver | carcinoma | Substitution - Missense |
c.693C>T; p.T231T; 17:7674270-7674270 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.726C>G; p.C242W; 17:7674237-7674237 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.467G>A; p.R156H; 17:7675145-7675145 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.726C>G; p.C242W; 17:7674237-7674237 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
liver | other; hepatoblastoma | Substitution - Missense |
c.467G>A; p.R156H; 17:7675145-7675145 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.467G>A; p.R156H; 17:7675145-7675145 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.472C>T; p.R158C; 17:7675140-7675140 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.726C>G; p.C242W; 17:7674237-7674237 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.472C>T; p.R158C; 17:7675140-7675140 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.472C>T; p.R158C; 17:7675140-7675140 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.472C>T; p.R158C; 17:7675140-7675140 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.467G>A; p.R156H; 17:7675145-7675145 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.472C>T; p.R158C; 17:7675140-7675140 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.706T>C; p.Y236H; 17:7674257-7674257 |
prostate | carcinoma | Substitution - Missense |
c.849_850insNN; p.T284fs*62; 17:7673770-7673771 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Insertion - Frameshift |
c.730G>T; p.G244C; 17:7674233-7674233 |
kidney | carcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.311A>T; p.Q104L; 17:7676058-7676058 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.706T>C; p.Y236H; 17:7674257-7674257 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.467G>A; p.R156H; 17:7675145-7675145 |
stomach | carcinoma; undifferentiated_adenocarcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.645T>A; p.S215R; 17:7674886-7674886 |
liver | carcinoma | Substitution - Missense |
c.472C>T; p.R158C; 17:7675140-7675140 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.645T>A; p.S215R; 17:7674886-7674886 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.706T>C; p.Y236H; 17:7674257-7674257 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.472C>T; p.R158C; 17:7675140-7675140 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.886C>T; p.H296Y; 17:7673734-7673734 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.919+26G>AT; p.?; 17:7673675-7673675 |
large_intestine; colon | adenoma | Unknown |
c.730G>T; p.G244C; 17:7674233-7674233 |
liver | carcinoma | Substitution - Missense |
c.472C>T; p.R158C; 17:7675140-7675140 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.886C>T; p.H296Y; 17:7673734-7673734 |
haematopoietic_and_lymphoid_tissue; stomach | lymphoid_neoplasm | Substitution - Missense |
c.472C>T; p.R158C; 17:7675140-7675140 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.645T>A; p.S215R; 17:7674886-7674886 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.520_537del18; p.R174_H179delRRCPHH; 17:7675075-7675092 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ | Deletion - In frame |
c.730G>T; p.G244C; 17:7674233-7674233 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.726C>G; p.C242W; 17:7674237-7674237 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.645T>A; p.S215R; 17:7674886-7674886 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.467G>A; p.R156H; 17:7675145-7675145 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.472C>T; p.R158C; 17:7675140-7675140 |
lung; upper_lobe | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.467G>A; p.R156H; 17:7675145-7675145 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.693C>T; p.T231T; 17:7674270-7674270 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.730G>T; p.G244C; 17:7674233-7674233 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.693C>T; p.T231T; 17:7674270-7674270 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.943_967del25; p.S315fs*22; 17:7673561-7673585 |
upper_aerodigestive_tract; larynx | carcinoma | Deletion - Frameshift |
c.706T>C; p.Y236H; 17:7674257-7674257 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.645T>A; p.S215R; 17:7674886-7674886 |
prostate | carcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.472C>T; p.R158C; 17:7675140-7675140 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.650T>C; p.V217A; 17:7674881-7674881 |
breast | carcinoma | Substitution - Missense |
c.467G>A; p.R156H; 17:7675145-7675145 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.467G>A; p.R156H; 17:7675145-7675145 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Substitution - Missense |
c.472C>T; p.R158C; 17:7675140-7675140 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.650T>C; p.V217A; 17:7674881-7674881 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.650T>C; p.V217A; 17:7674881-7674881 |
small_intestine | carcinoid-endocrine_tumour | Substitution - Missense |
c.472C>T; p.R158C; 17:7675140-7675140 |
upper_aerodigestive_tract; mouth | other; dysplasia | Substitution - Missense |
c.763delA; p.I255fs*90; 17:7674200-7674200 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - Frameshift |
c.463_468delACCCGC; p.T155_R156delTR; 17:7675144-7675149 |
ovary | other; neoplasm | Deletion - In frame |
c.693C>T; p.T231T; 17:7674270-7674270 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - coding silent |
c.730G>T; p.G244C; 17:7674233-7674233 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.849_850insNN; p.T284fs*62; 17:7673770-7673771 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.706T>C; p.Y236H; 17:7674257-7674257 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.472C>T; p.R158C; 17:7675140-7675140 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.706T>C; p.Y236H; 17:7674257-7674257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.706T>C; p.Y236H; 17:7674257-7674257 |
liver | carcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.467G>A; p.R156H; 17:7675145-7675145 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.472C>T; p.R158C; 17:7675140-7675140 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.472C>T; p.R158C; 17:7675140-7675140 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.706T>C; p.Y236H; 17:7674257-7674257 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.645T>A; p.S215R; 17:7674886-7674886 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.730G>T; p.G244C; 17:7674233-7674233 |
liver | other; hepatoblastoma | Substitution - Missense |
c.650T>C; p.V217A; 17:7674881-7674881 |
breast | carcinoma | Substitution - Missense |
c.920-41_920-3del39; p.?; 17:7673611-7673649 |
stomach | adenocarcinoma | Unknown |
c.511G>T; p.E171*; 17:7675101-7675101 |
oesophagus | carcinoma | Substitution - Nonsense |
c.738G>A; p.M246I; 17:7674225-7674225 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.417G>C; p.K139N; 17:7675195-7675195 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.475G>T; p.A159S; 17:7675137-7675137 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1001G>T; p.G334V; 17:7670708-7670708 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.590T>G; p.V197G; 17:7674941-7674941 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia | Substitution - Missense |
c.590T>G; p.V197G; 17:7674941-7674941 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.313G>A; p.G105S; 17:7676056-7676056 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1001G>T; p.G334V; 17:7670708-7670708 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.738G>A; p.M246I; 17:7674225-7674225 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.737T>A; p.M246K; 17:7674226-7674226 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.511G>T; p.E171*; 17:7675101-7675101 |
breast | carcinoma | Substitution - Nonsense |
c.572C>G; p.P191R; 17:7674959-7674959 |
prostate | carcinoma | Substitution - Missense |
c.819T>C; p.R273R; 17:7673801-7673801 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1122_1123insG; p.Q375fs*7; 17:7669668-7669669 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.727A>C; p.M243L; 17:7674236-7674236 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.511G>T; p.E171*; 17:7675101-7675101 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.596G>A; p.G199E; 17:7674935-7674935 |
large_intestine; appendix | carcinoid-endocrine_tumour | Substitution - Missense |
c.475G>T; p.A159S; 17:7675137-7675137 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.193A>T; p.R65*; 17:7676176-7676176 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.511G>T; p.E171*; 17:7675101-7675101 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.208G>A; p.A70T; 17:7676161-7676161 |
breast | hyperplasia | Substitution - Missense |
c.475G>T; p.A159S; 17:7675137-7675137 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.738G>A; p.M246I; 17:7674225-7674225 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.715A>T; p.N239Y; 17:7674248-7674248 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.738G>A; p.M246I; 17:7674225-7674225 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.511G>T; p.E171*; 17:7675101-7675101 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.955A>T; p.K319*; 17:7673573-7673573 |
pancreas | carcinoma | Substitution - Nonsense |
c.1001G>T; p.G334V; 17:7670708-7670708 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1001G>T; p.G334V; 17:7670708-7670708 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.965C>G; p.P322R; 17:7673563-7673563 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.590T>G; p.V197G; 17:7674941-7674941 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.727A>C; p.M243L; 17:7674236-7674236 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.737T>A; p.M246K; 17:7674226-7674226 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.511G>T; p.E171*; 17:7675101-7675101 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.193A>T; p.R65*; 17:7676176-7676176 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.596G>A; p.G199E; 17:7674935-7674935 |
large_intestine; appendix | carcinoid-endocrine_tumour | Substitution - Missense |
c.590T>G; p.V197G; 17:7674941-7674941 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.193A>T; p.R65*; 17:7676176-7676176 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.453C>G; p.P151P; 17:7675159-7675159 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.590T>G; p.V197G; 17:7674941-7674941 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.193A>T; p.R65*; 17:7676176-7676176 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.417G>C; p.K139N; 17:7675195-7675195 |
breast | carcinoma | Substitution - Missense |
c.737T>A; p.M246K; 17:7674226-7674226 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.475G>T; p.A159S; 17:7675137-7675137 |
breast | carcinoma | Substitution - Missense |
c.955A>T; p.K319*; 17:7673573-7673573 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.1001G>T; p.G334V; 17:7670708-7670708 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1001G>T; p.G334V; 17:7670708-7670708 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.475G>T; p.A159S; 17:7675137-7675137 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.898delC; p.P301fs*44; 17:7673722-7673722 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.596G>A; p.G199E; 17:7674935-7674935 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.738G>A; p.M246I; 17:7674225-7674225 |
ovary | carcinoma | Substitution - Missense |
c.1001G>T; p.G334V; 17:7670708-7670708 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.596G>A; p.G199E; 17:7674935-7674935 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Missense |
c.511G>T; p.E171*; 17:7675101-7675101 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.572_581del10; p.P191fs*53; 17:7674950-7674959 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.453C>G; p.P151P; 17:7675159-7675159 |
prostate | in_situ_neoplasm; glandular_intraepithelial_neoplasia_Grade_III | Substitution - coding silent |
c.898delC; p.P301fs*44; 17:7673722-7673722 |
skin | malignant_melanoma | Deletion - Frameshift |
c.738G>A; p.M246I; 17:7674225-7674225 |
breast | carcinoma | Substitution - Missense |
c.898delC; p.P301fs*44; 17:7673722-7673722 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.590T>G; p.V197G; 17:7674941-7674941 |
endometrium | carcinoma; clear_cell_carcinoma | Substitution - Missense |
c.738G>A; p.M246I; 17:7674225-7674225 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.898delC; p.P301fs*44; 17:7673722-7673722 |
lung | carcinoma; large_cell_carcinoma | Deletion - Frameshift |
c.521G>A; p.R174K; 17:7675091-7675091 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.417G>C; p.K139N; 17:7675195-7675195 |
ovary | carcinoma | Substitution - Missense |
c.590T>G; p.V197G; 17:7674941-7674941 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.596G>A; p.G199E; 17:7674935-7674935 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.590T>G; p.V197G; 17:7674941-7674941 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.521G>A; p.R174K; 17:7675091-7675091 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.955A>T; p.K319*; 17:7673573-7673573 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.737T>A; p.M246K; 17:7674226-7674226 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.474delC; p.A159fs*11; 17:7675138-7675138 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Deletion - Frameshift |
c.590T>G; p.V197G; 17:7674941-7674941 |
breast | carcinoma | Substitution - Missense |
c.596G>A; p.G199E; 17:7674935-7674935 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Missense |
c.738G>A; p.M246I; 17:7674225-7674225 |
breast | carcinoma | Substitution - Missense |
c.715A>T; p.N239Y; 17:7674248-7674248 |
ovary | carcinoma | Substitution - Missense |
c.453C>G; p.P151P; 17:7675159-7675159 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.511G>T; p.E171*; 17:7675101-7675101 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.715A>T; p.N239Y; 17:7674248-7674248 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.738G>A; p.M246I; 17:7674225-7674225 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.965C>G; p.P322R; 17:7673563-7673563 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.596G>A; p.G199E; 17:7674935-7674935 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Missense |
c.738G>A; p.M246I; 17:7674225-7674225 |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_III | Substitution - Missense |
c.521G>A; p.R174K; 17:7675091-7675091 |
breast | carcinoma | Substitution - Missense |
c.590T>G; p.V197G; 17:7674941-7674941 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.417G>C; p.K139N; 17:7675195-7675195 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.955A>T; p.K319*; 17:7673573-7673573 |
stomach | carcinoma | Substitution - Nonsense |
c.453C>G; p.P151P; 17:7675159-7675159 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.511G>T; p.E171*; 17:7675101-7675101 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.784_785GG>CA; p.G262H; 17:7673835-7673836 |
ovary | carcinoma; mucinous_carcinoma | Substitution - Missense |
c.738G>A; p.M246I; 17:7674225-7674225 |
breast | carcinoma | Substitution - Missense |
c.596G>A; p.G199E; 17:7674935-7674935 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; anaplastic_large_cell_lymphoma | Substitution - Missense |
c.737T>A; p.M246K; 17:7674226-7674226 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.193A>T; p.R65*; 17:7676176-7676176 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.737T>A; p.M246K; 17:7674226-7674226 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm | Substitution - Missense |
c.590T>G; p.V197G; 17:7674941-7674941 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.511G>T; p.E171*; 17:7675101-7675101 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1001G>T; p.G334V; 17:7670708-7670708 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.898delC; p.P301fs*44; 17:7673722-7673722 |
lung | carcinoma; large_cell_carcinoma | Deletion - Frameshift |
c.417G>C; p.K139N; 17:7675195-7675195 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.955A>T; p.K319*; 17:7673573-7673573 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.313G>A; p.G105S; 17:7676056-7676056 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.590T>G; p.V197G; 17:7674941-7674941 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.193A>T; p.R65*; 17:7676176-7676176 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.737T>A; p.M246K; 17:7674226-7674226 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.511G>T; p.E171*; 17:7675101-7675101 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.738G>A; p.M246I; 17:7674225-7674225 |
central_nervous_system; brain | glioma; oligodendroglioma | Substitution - Missense |
c.521G>A; p.R174K; 17:7675091-7675091 |
liver | carcinoma | Substitution - Missense |
c.1001G>T; p.G334V; 17:7670708-7670708 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.862A>G; p.N288D; 17:7673758-7673758 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.715A>T; p.N239Y; 17:7674248-7674248 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.162C>A; p.F54L; 17:7676207-7676207 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.738G>A; p.M246I; 17:7674225-7674225 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.727A>C; p.M243L; 17:7674236-7674236 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.202G>C; p.E68Q; 17:7676167-7676167 |
adrenal_gland; adrenal_gland | pheochromocytoma | Substitution - Missense |
c.590T>G; p.V197G; 17:7674941-7674941 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.193A>T; p.R65*; 17:7676176-7676176 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.955A>T; p.K319*; 17:7673573-7673573 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.976G>A; p.E326K; 17:7673552-7673552 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.590T>G; p.V197G; 17:7674941-7674941 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.590T>G; p.V197G; 17:7674941-7674941 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.738G>A; p.M246I; 17:7674225-7674225 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.738G>A; p.M246I; 17:7674225-7674225 |
ovary | carcinoma | Substitution - Missense |
c.738G>A; p.M246I; 17:7674225-7674225 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.738G>A; p.M246I; 17:7674225-7674225 |
ovary | carcinoma | Substitution - Missense |
c.417G>C; p.K139N; 17:7675195-7675195 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.1001G>T; p.G334V; 17:7670708-7670708 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.596G>A; p.G199E; 17:7674935-7674935 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Missense |
c.715A>T; p.N239Y; 17:7674248-7674248 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.738G>A; p.M246I; 17:7674225-7674225 |
ovary | carcinoma | Substitution - Missense |
c.521G>A; p.R174K; 17:7675091-7675091 |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.596G>A; p.G199E; 17:7674935-7674935 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.193A>T; p.R65*; 17:7676176-7676176 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.193A>T; p.R65*; 17:7676176-7676176 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.715A>T; p.N239Y; 17:7674248-7674248 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.511G>T; p.E171*; 17:7675101-7675101 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.738G>A; p.M246I; 17:7674225-7674225 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.511G>T; p.E171*; 17:7675101-7675101 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.738G>A; p.M246I; 17:7674225-7674225 |
ovary | carcinoma | Substitution - Missense |
c.596G>A; p.G199E; 17:7674935-7674935 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.475G>T; p.A159S; 17:7675137-7675137 |
stomach | carcinoid-endocrine_tumour | Substitution - Missense |
c.572C>G; p.P191R; 17:7674959-7674959 |
oesophagus | carcinoma | Substitution - Missense |
c.727A>C; p.M243L; 17:7674236-7674236 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.323_327delGTTTC; p.G108fs*39; 17:7676042-7676046 |
breast | carcinoma | Deletion - Frameshift |
c.738G>A; p.M246I; 17:7674225-7674225 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.519G>C; p.V173V; 17:7675093-7675093 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.686G>C; p.C229S; 17:7674277-7674277 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.672+1G>T; p.?; 17:7674858-7674858 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.672+1G>T; p.?; 17:7674858-7674858 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.806_807insN; p.S269fs*3; 17:7673813-7673814 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Insertion - Frameshift |
c.841G>C; p.D281H; 17:7673779-7673779 |
breast | carcinoma | Substitution - Missense |
c.841G>C; p.D281H; 17:7673779-7673779 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.501delG; p.Q167fs*3; 17:7675111-7675111 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.841G>C; p.D281H; 17:7673779-7673779 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.722_724delCCT; p.S241delS; 17:7674239-7674241 |
breast | carcinoma | Deletion - In frame |
c.672+1G>T; p.?; 17:7674858-7674858 |
oesophagus | other; Barrett_oesophagus | Unknown |
c.519G>A; p.V173V; 17:7675093-7675093 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.754_756delCTC; p.L252delL; 17:7674207-7674209 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - In frame |
c.1045delG; p.E349fs*21; 17:7670664-7670664 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.519G>A; p.V173V; 17:7675093-7675093 |
cervix | carcinoma | Substitution - coding silent |
c.1045delG; p.E349fs*21; 17:7670664-7670664 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.605_606GT>CG; p.R202P; 17:7674925-7674926 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.841G>C; p.D281H; 17:7673779-7673779 |
lung | carcinoma | Substitution - Missense |
c.754_756delCTC; p.L252delL; 17:7674207-7674209 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Deletion - In frame |
c.754_756delCTC; p.L252delL; 17:7674207-7674209 |
oesophagus | carcinoma; adenocarcinoma | Deletion - In frame |
c.841G>C; p.D281H; 17:7673779-7673779 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.841G>C; p.D281H; 17:7673779-7673779 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.672+1G>T; p.?; 17:7674858-7674858 |
pancreas | carcinoma; ductal_carcinoma | Unknown |
c.672+1G>T; p.?; 17:7674858-7674858 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.672+1G>T; p.?; 17:7674858-7674858 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.841G>C; p.D281H; 17:7673779-7673779 |
pancreas | carcinoma | Substitution - Missense |
c.841G>C; p.D281H; 17:7673779-7673779 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.841G>C; p.D281H; 17:7673779-7673779 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.861_868delGAATCTCC; p.N288fs*15; 17:7673752-7673759 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Deletion - Frameshift |
c.841G>C; p.D281H; 17:7673779-7673779 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.680C>A; p.S227Y; 17:7674283-7674283 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.519G>A; p.V173V; 17:7675093-7675093 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.841G>C; p.D281H; 17:7673779-7673779 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.114delA; p.A39fs*5; 17:7676255-7676255 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.672+1G>T; p.?; 17:7674858-7674858 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.782+10C>A; p.?; 17:7674171-7674171 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.888_889CC>TT; p.H297Y; 17:7673731-7673732 |
eye; conjunctiva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.841G>C; p.D281H; 17:7673779-7673779 |
liver | carcinoma | Substitution - Missense |
c.672+1G>T; p.?; 17:7674858-7674858 |
large_intestine; rectum | carcinoma; adenocarcinoma | Unknown |
c.782+10C>A; p.?; 17:7674171-7674171 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.605_606GT>CG; p.R202P; 17:7674925-7674926 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.672+1G>T; p.?; 17:7674858-7674858 |
breast | carcinoma | Unknown |
c.672+1G>T; p.?; 17:7674858-7674858 |
bone; femur | chondrosarcoma | Unknown |
c.449_450insG; p.P151fs*30; 17:7675162-7675163 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.754_756delCTC; p.L252delL; 17:7674207-7674209 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - In frame |
c.841G>C; p.D281H; 17:7673779-7673779 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.378C>T; p.Y126Y; 17:7675234-7675234 |
central_nervous_system; brain | glioma; astrocytoma_Grade_I | Substitution - coding silent |
c.841G>C; p.D281H; 17:7673779-7673779 |
breast | carcinoma | Substitution - Missense |
c.672+1G>T; p.?; 17:7674858-7674858 |
large_intestine; rectum | carcinoma; adenocarcinoma | Unknown |
c.754_756delCTC; p.L252delL; 17:7674207-7674209 |
oesophagus | carcinoma; adenocarcinoma | Deletion - In frame |
c.468C>A; p.R156R; 17:7675144-7675144 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - coding silent |
c.841G>C; p.D281H; 17:7673779-7673779 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.672+1G>T; p.?; 17:7674858-7674858 |
pancreas | carcinoma | Unknown |
c.1045delG; p.E349fs*21; 17:7670664-7670664 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.888_889CC>TT; p.H297Y; 17:7673731-7673732 |
skin; arm | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.754_756delCTC; p.L252delL; 17:7674207-7674209 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Deletion - In frame |
c.841G>C; p.D281H; 17:7673779-7673779 |
liver | carcinoma | Substitution - Missense |
c.754_756delCTC; p.L252delL; 17:7674207-7674209 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.519G>A; p.V173V; 17:7675093-7675093 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1014_1015insN; p.E339fs*8; 17:7670694-7670695 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.672+1G>T; p.?; 17:7674858-7674858 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.841G>C; p.D281H; 17:7673779-7673779 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.754_756delCTC; p.L252delL; 17:7674207-7674209 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - In frame |
c.712_725del14; p.C238fs*21; 17:7674238-7674251 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.841G>C; p.D281H; 17:7673779-7673779 |
liver | other; hepatoblastoma | Substitution - Missense |
c.841G>C; p.D281H; 17:7673779-7673779 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.519G>A; p.V173V; 17:7675093-7675093 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - coding silent |
c.841G>C; p.D281H; 17:7673779-7673779 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.841G>C; p.D281H; 17:7673779-7673779 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.841G>C; p.D281H; 17:7673779-7673779 |
bone | osteosarcoma | Substitution - Missense |
c.184G>A; p.E62K; 17:7676185-7676185 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.672+1G>T; p.?; 17:7674858-7674858 |
lung | carcinoma; adenocarcinoma | Unknown |
c.841G>C; p.D281H; 17:7673779-7673779 |
breast | carcinoma | Substitution - Missense |
c.519G>A; p.V173V; 17:7675093-7675093 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.841G>C; p.D281H; 17:7673779-7673779 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.674T>A; p.V225D; 17:7674289-7674289 |
prostate | carcinoma | Substitution - Missense |
c.841G>C; p.D281H; 17:7673779-7673779 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1014_1015insN; p.E339fs*8; 17:7670694-7670695 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.841G>C; p.D281H; 17:7673779-7673779 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.920-7T>A; p.?; 17:7673615-7673615 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour | Unknown |
c.672+1G>T; p.?; 17:7674858-7674858 |
pancreas | carcinoma | Unknown |
c.672+1G>T; p.?; 17:7674858-7674858 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.754_756delCTC; p.L252delL; 17:7674207-7674209 |
breast | carcinoma; medullary_carcinoma | Deletion - In frame |
c.841G>C; p.D281H; 17:7673779-7673779 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.774A>G; p.E258E; 17:7674189-7674189 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.722_724delCCT; p.S241delS; 17:7674239-7674241 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.841G>C; p.D281H; 17:7673779-7673779 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.210_211insNNNN; p.P71fs*79; 17:7676158-7676159 |
ovary | other; neoplasm | Insertion - Frameshift |
c.672+1G>T; p.?; 17:7674858-7674858 |
lung | carcinoma; adenocarcinoma | Unknown |
c.1016_1017insG; p.M340fs*7; 17:7670692-7670693 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Insertion - Frameshift |
c.530C>T; p.P177L; 17:7675082-7675082 |
prostate | carcinoma | Substitution - Missense |
c.203A>G; p.E68G; 17:7676166-7676166 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.961delA; p.K321fs*24; 17:7673567-7673567 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.530C>T; p.P177L; 17:7675082-7675082 |
skin | malignant_melanoma | Substitution - Missense |
c.477C>T; p.A159A; 17:7675135-7675135 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.961delA; p.K321fs*24; 17:7673567-7673567 |
endometrium | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.801delG; p.N268fs*77; 17:7673819-7673819 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.1101-2A>G; p.?; 17:7669692-7669692 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.637C>A; p.R213R; 17:7674894-7674894 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - coding silent |
c.477C>T; p.A159A; 17:7675135-7675135 |
breast | carcinoma | Substitution - coding silent |
c.272G>A; p.W91*; 17:7676097-7676097 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.961delA; p.K321fs*24; 17:7673567-7673567 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.702delC; p.Y234fs*1; 17:7674261-7674261 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.920-1G>T; p.?; 17:7673609-7673609 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.530C>T; p.P177L; 17:7675082-7675082 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1101-2A>G; p.?; 17:7669692-7669692 |
adrenal_gland; adrenal_gland | adrenal_cortical_neoplasm; virilizing_syndrome_producing | Unknown |
c.530C>T; p.P177L; 17:7675082-7675082 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.530C>T; p.P177L; 17:7675082-7675082 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.534C>G; p.H178Q; 17:7675078-7675078 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.530C>T; p.P177L; 17:7675082-7675082 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.562_563CT>TA; p.L188*; 17:7674968-7674969 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.920-1G>T; p.?; 17:7673609-7673609 |
liver | carcinoma | Unknown |
c.548_559+16del28; p.?; 17:7675053-7675064 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.530C>T; p.P177L; 17:7675082-7675082 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.530C>T; p.P177L; 17:7675082-7675082 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.972T>C; p.D324D; 17:7673556-7673556 |
central_nervous_system; brain | glioma; astrocytoma_Grade_I | Substitution - coding silent |
c.904G>T; p.G302W; 17:7673716-7673716 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.530C>T; p.P177L; 17:7675082-7675082 |
skin | malignant_melanoma | Substitution - Missense |
c.272G>A; p.W91*; 17:7676097-7676097 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.530C>T; p.P177L; 17:7675082-7675082 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.920-1G>T; p.?; 17:7673609-7673609 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.153_154insNNN; p.E51_Q52insX; 17:7676215-7676216 |
stomach | carcinoma | Insertion - In frame |
c.530C>T; p.P177L; 17:7675082-7675082 |
prostate | carcinoma | Substitution - Missense |
c.920-1G>T; p.?; 17:7673609-7673609 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.920-1G>T; p.?; 17:7673609-7673609 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.900_901insN; p.P301fs*5; 17:7673719-7673720 |
oesophagus | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.530C>T; p.P177L; 17:7675082-7675082 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.454_455insT; p.P152fs*29; 17:7675157-7675158 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.530C>T; p.P177L; 17:7675082-7675082 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.847_866del20; p.R283fs*16; 17:7673754-7673773 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.900_901insN; p.P301fs*5; 17:7673719-7673720 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Insertion - Frameshift |
c.272G>A; p.W91*; 17:7676097-7676097 |
pancreas | carcinoma | Substitution - Nonsense |
c.534C>G; p.H178Q; 17:7675078-7675078 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.645_646insNNNNN; p.V216fs*33; 17:7674885-7674886 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.530C>T; p.P177L; 17:7675082-7675082 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.530C>T; p.P177L; 17:7675082-7675082 |
skin; head_neck | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.272G>A; p.W91*; 17:7676097-7676097 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.945_946insT; p.P316fs*21; 17:7673582-7673583 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.530C>T; p.P177L; 17:7675082-7675082 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.477C>T; p.A159A; 17:7675135-7675135 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - coding silent |
c.920-1G>T; p.?; 17:7673609-7673609 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.272G>A; p.W91*; 17:7676097-7676097 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.920-1G>T; p.?; 17:7673609-7673609 |
liver | carcinoma | Unknown |
c.885T>A; p.P295P; 17:7673735-7673735 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.477C>T; p.A159A; 17:7675135-7675135 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.552_553insNN; p.S185fs*63; 17:7675059-7675060 |
stomach | carcinoma | Insertion - Frameshift |
c.477C>T; p.A159A; 17:7675135-7675135 |
skin; head_neck | carcinoma; basal_cell_carcinoma | Substitution - coding silent |
c.477C>T; p.A159A; 17:7675135-7675135 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - coding silent |
c.702delC; p.Y234fs*1; 17:7674261-7674261 |
liver | carcinoma | Deletion - Frameshift |
c.530C>T; p.P177L; 17:7675082-7675082 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.272G>A; p.W91*; 17:7676097-7676097 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.272G>A; p.W91*; 17:7676097-7676097 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.272G>A; p.W91*; 17:7676097-7676097 |
central_nervous_system; brain | glioma; astrocytoma_Grade_I | Substitution - Nonsense |
c.694A>C; p.I232L; 17:7674269-7674269 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.530C>T; p.P177L; 17:7675082-7675082 |
skin | malignant_melanoma | Substitution - Missense |
c.272G>A; p.W91*; 17:7676097-7676097 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.530C>T; p.P177L; 17:7675082-7675082 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.477C>T; p.A159A; 17:7675135-7675135 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.272G>A; p.W91*; 17:7676097-7676097 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.885T>A; p.P295P; 17:7673735-7673735 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.203A>G; p.E68G; 17:7676166-7676166 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.530C>T; p.P177L; 17:7675082-7675082 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.847_866del20; p.R283fs*16; 17:7673754-7673773 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.152_176del25; p.E51fs*64; 17:7676193-7676217 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.477C>T; p.A159A; 17:7675135-7675135 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.272G>A; p.W91*; 17:7676097-7676097 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.845G>C; p.R282P; 17:7673775-7673775 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.409_438del30; p.L137_W146del10; 17:7675174-7675203 |
breast | carcinoma | Deletion - In frame |
c.379T>A; p.S127T; 17:7675233-7675233 |
pancreas | carcinoma | Substitution - Missense |
c.928A>C; p.N310H; 17:7673600-7673600 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.775G>A; p.D259N; 17:7674188-7674188 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.845G>C; p.R282P; 17:7673775-7673775 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.379T>A; p.S127T; 17:7675233-7675233 |
pancreas | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.673-2A>T; p.?; 17:7674292-7674292 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.673-2A>T; p.?; 17:7674292-7674292 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.582_588delTATCCGA; p.I195fs*50; 17:7674943-7674949 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.845G>C; p.R282P; 17:7673775-7673775 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.379T>A; p.S127T; 17:7675233-7675233 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.845G>C; p.R282P; 17:7673775-7673775 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.379T>A; p.S127T; 17:7675233-7675233 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.845G>C; p.R282P; 17:7673775-7673775 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.721_726delTCCTGC; p.S241_C242del; 17:7674237-7674242 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.845G>C; p.R282P; 17:7673775-7673775 |
ovary | other; neoplasm | Substitution - Missense |
c.845G>C; p.R282P; 17:7673775-7673775 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.334G>A; p.G112S; 17:7676035-7676035 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.673-2A>T; p.?; 17:7674292-7674292 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.673-2A>T; p.?; 17:7674292-7674292 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.379T>A; p.S127T; 17:7675233-7675233 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; large_cell | Substitution - Missense |
c.587G>T; p.R196L; 17:7674944-7674944 |
skin; eye | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.673-2A>T; p.?; 17:7674292-7674292 |
breast | carcinoma; ductal_carcinoma | Unknown |
c.673-2A>T; p.?; 17:7674292-7674292 |
breast | carcinoma; ductal_carcinoma | Unknown |
c.845G>C; p.R282P; 17:7673775-7673775 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.845G>C; p.R282P; 17:7673775-7673775 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.845G>C; p.R282P; 17:7673775-7673775 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.379T>A; p.S127T; 17:7675233-7675233 |
pancreas | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.379T>A; p.S127T; 17:7675233-7675233 |
liver | carcinoma | Substitution - Missense |
c.673-2A>T; p.?; 17:7674292-7674292 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.845G>C; p.R282P; 17:7673775-7673775 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.575_576ins24; p.Q192>XXXXXXXXX; 17:7674955-7674956 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Complex - insertion inframe |
c.845G>C; p.R282P; 17:7673775-7673775 |
breast | carcinoma | Substitution - Missense |
c.673-2A>T; p.?; 17:7674292-7674292 |
breast | carcinoma; ductal_carcinoma | Unknown |
c.673-2A>T; p.?; 17:7674292-7674292 |
breast | carcinoma; ductal_carcinoma | Unknown |
c.379T>A; p.S127T; 17:7675233-7675233 |
pancreas | carcinoma | Substitution - Missense |
c.775G>A; p.D259N; 17:7674188-7674188 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.379T>A; p.S127T; 17:7675233-7675233 |
liver | carcinoma | Substitution - Missense |
c.1042_1043insAAGGCCT; p.L348fs*1; 17:7670666-7670667 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.775G>A; p.D259N; 17:7674188-7674188 |
ovary | carcinoma; serous_adenocarcinofibroma | Substitution - Missense |
c.484_489delATCTAC; p.I162_Y163delIY; 17:7675123-7675128 |
pancreas | carcinoma; ductal_carcinoma | Deletion - In frame |
c.775G>A; p.D259N; 17:7674188-7674188 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.775G>A; p.D259N; 17:7674188-7674188 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.739_750del12; p.N247_P250delNRRP; 17:7674213-7674224 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Deletion - In frame |
c.877G>C; p.G293R; 17:7673743-7673743 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.845G>C; p.R282P; 17:7673775-7673775 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.487_497del11; p.Y163fs*14; 17:7675115-7675125 |
breast | carcinoma | Deletion - Frameshift |
c.373_407del35; p.Y126fs*11; 17:7675205-7675996 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.845G>C; p.R282P; 17:7673775-7673775 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.845G>C; p.R282P; 17:7673775-7673775 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.566C>A; p.A189D; 17:7674965-7674965 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.845G>C; p.R282P; 17:7673775-7673775 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.379T>A; p.S127T; 17:7675233-7675233 |
pancreas | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.861_862insN; p.N288fs*18; 17:7673758-7673759 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.559+37T>G; p.?; 17:7675016-7675016 |
skin | benign_melanocytic_nevus; dysplastic | Unknown |
c.453C>A; p.P151P; 17:7675159-7675159 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - coding silent |
c.379T>A; p.S127T; 17:7675233-7675233 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.379T>A; p.S127T; 17:7675233-7675233 |
pancreas | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.845G>C; p.R282P; 17:7673775-7673775 |
lung | carcinoma | Substitution - Missense |
c.775G>A; p.D259N; 17:7674188-7674188 |
soft_tissue; fibrous_tissue_and_uncertain_o | malignant_melanoma_of_soft_parts-clear_cell_sarcoma | Substitution - Missense |
c.843C>G; p.D281E; 17:7673777-7673777 |
ovary | other; neoplasm | Substitution - Missense |
c.843C>G; p.D281E; 17:7673777-7673777 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.529_546del18; p.P177_C182delPHHERC; 17:7675066-7675083 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.994-2A>T; p.?; 17:7670717-7670717 |
liver | carcinoma | Unknown |
c.529_546del18; p.P177_C182delPHHERC; 17:7675066-7675083 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.843C>G; p.D281E; 17:7673777-7673777 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.529_546del18; p.P177_C182delPHHERC; 17:7675066-7675083 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Deletion - In frame |
c.843C>G; p.D281E; 17:7673777-7673777 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.843C>G; p.D281E; 17:7673777-7673777 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.843C>G; p.D281E; 17:7673777-7673777 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.699_705delCTACAAC; p.Y234fs*11; 17:7674258-7674264 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Deletion - Frameshift |
c.507delG; p.M169fs*5; 17:7675105-7675105 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.561_562insA; p.L188fs*21; 17:7674969-7674970 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.529_546del18; p.P177_C182delPHHERC; 17:7675066-7675083 |
large_intestine; anus | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.529_546del18; p.P177_C182delPHHERC; 17:7675066-7675083 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - In frame |
c.994-2A>T; p.?; 17:7670717-7670717 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.843C>G; p.D281E; 17:7673777-7673777 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.704_705AC>TG; p.N235M; 17:7674258-7674259 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.994-2A>T; p.?; 17:7670717-7670717 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.772_780delGAAGACTCC; p.E258_S260delEDS; 17:7674183-7674191 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.843C>G; p.D281E; 17:7673777-7673777 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.529_546del18; p.P177_C182delPHHERC; 17:7675066-7675083 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.529_546del18; p.P177_C182delPHHERC; 17:7675066-7675083 |
breast | carcinoma | Deletion - In frame |
c.520_536del17; p.R174fs*1; 17:7675076-7675092 |
breast | carcinoma | Deletion - Frameshift |
c.843C>G; p.D281E; 17:7673777-7673777 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.399_400insNNNNNNNN; p.F134fs*39; 17:7675212-7675213 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.443A>T; p.D148V; 17:7675169-7675169 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.843C>G; p.D281E; 17:7673777-7673777 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.843C>G; p.D281E; 17:7673777-7673777 |
breast | carcinoma | Substitution - Missense |
c.782+3C>G; p.?; 17:7674178-7674178 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.843C>G; p.D281E; 17:7673777-7673777 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.843C>G; p.D281E; 17:7673777-7673777 |
central_nervous_system; thalamus | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.843C>G; p.D281E; 17:7673777-7673777 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.843C>G; p.D281E; 17:7673777-7673777 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.529_546del18; p.P177_C182delPHHERC; 17:7675066-7675083 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_IV | Deletion - In frame |
c.402_403insNN; p.C135fs*36; 17:7675209-7675210 |
breast | carcinoma | Insertion - Frameshift |
c.843C>G; p.D281E; 17:7673777-7673777 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.843C>G; p.D281E; 17:7673777-7673777 |
ovary | other; neoplasm | Substitution - Missense |
c.994-2A>T; p.?; 17:7670717-7670717 |
urinary_tract; bladder | carcinoma | Unknown |
c.520_536del17; p.R174fs*1; 17:7675076-7675092 |
breast | carcinoma | Deletion - Frameshift |
c.843C>G; p.D281E; 17:7673777-7673777 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.442_444delGAT; p.D148delD; 17:7675168-7675170 |
breast | carcinoma | Deletion - In frame |
c.198G>A; p.M66I; 17:7676171-7676171 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm | Substitution - Missense |
c.843C>G; p.D281E; 17:7673777-7673777 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.443A>T; p.D148V; 17:7675169-7675169 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.529_546del18; p.P177_C182delPHHERC; 17:7675066-7675083 |
large_intestine; rectum | carcinoma | Deletion - In frame |
c.843C>G; p.D281E; 17:7673777-7673777 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.994-2A>T; p.?; 17:7670717-7670717 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.994-2A>T; p.?; 17:7670717-7670717 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.843C>G; p.D281E; 17:7673777-7673777 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.994-2A>T; p.?; 17:7670717-7670717 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
vulva | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | NS | Substitution - Missense |
c.526T>A; p.C176S; 17:7675086-7675086 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.587G>C; p.R196P; 17:7674944-7674944 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
thymus | thymic_carcinoma; sarcomatoid_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | other; neoplasm | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.526T>A; p.C176S; 17:7675086-7675086 |
pancreas | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; large_cell | Substitution - Missense |
c.587G>C; p.R196P; 17:7674944-7674944 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.526T>G; p.C176G; 17:7675086-7675086 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | adenoma | Substitution - Missense |
c.382C>T; p.P128S; 17:7675230-7675230 |
skin | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
genital_tract; extragonadal | germ_cell_tumour; yolk_sac_tumour | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.408A>G; p.Q136Q; 17:7675204-7675204 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
bone | osteosarcoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | other; neoplasm | Substitution - Missense |
c.550G>C; p.D184H; 17:7675062-7675062 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.526T>G; p.C176G; 17:7675086-7675086 |
ovary | other; neoplasm | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.587G>C; p.R196P; 17:7674944-7674944 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
bone | osteosarcoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; pleomorphic_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.813G>T; p.E271D; 17:7673807-7673807 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.587G>C; p.R196P; 17:7674944-7674944 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.722delC; p.C242fs*5; 17:7674241-7674241 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.840A>G; p.R280R; 17:7673780-7673780 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.653T>G; p.V218G; 17:7674878-7674878 |
ovary | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
genital_tract; extragonadal | germ_cell_tumour; yolk_sac_tumour | Substitution - Missense |
c.653T>G; p.V218G; 17:7674878-7674878 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
skin; eye | other; normal | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | adenoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; pleomorphic_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.840A>G; p.R280R; 17:7673780-7673780 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.587G>C; p.R196P; 17:7674944-7674944 |
urinary_tract; bladder | papilloma; typical | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.420_421ins14; p.C141fs*34; 17:7675191-7675192 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Insertion - Frameshift |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.587G>C; p.R196P; 17:7674944-7674944 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma | Substitution - Missense |
c.447C>T; p.S149S; 17:7675165-7675165 |
stomach | carcinoid-endocrine_tumour | Substitution - coding silent |
c.733G>T; p.G245C; 17:7674230-7674230 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | other; neoplasm | Substitution - Missense |
c.587G>C; p.R196P; 17:7674944-7674944 |
oesophagus | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.526T>A; p.C176S; 17:7675086-7675086 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.526T>G; p.C176G; 17:7675086-7675086 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.919delG; p.A307fs*38; 17:7673701-7673701 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
penis | carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.717_718insNNNNNNN; p.S240fs*26; 17:7674245-7674246 |
breast | carcinoma | Insertion - Frameshift |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
bone | chondrosarcoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
skin | adnexal_tumour; malignant_adnexal_tumour | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.587G>C; p.R196P; 17:7674944-7674944 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ | Substitution - Missense |
c.526T>A; p.C176S; 17:7675086-7675086 |
pancreas | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1044G>T; p.L348F; 17:7670665-7670665 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.587G>C; p.R196P; 17:7674944-7674944 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
ovary | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.526T>A; p.C176S; 17:7675086-7675086 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung; upper_lobe | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.387_394delCCTCAACA; p.L130fs*16; 17:7675218-7675225 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.733G>T; p.G245C; 17:7674230-7674230 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | other; neoplasm | Substitution - Missense |
c.550G>C; p.D184H; 17:7675062-7675062 |
large_intestine; rectum | serrated_polyp; serrated_adenoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.408A>G; p.Q136Q; 17:7675204-7675204 |
oesophagus | carcinoma | Substitution - coding silent |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.919delG; p.A307fs*38; 17:7673701-7673701 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.526T>A; p.C176S; 17:7675086-7675086 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma | Substitution - Missense |
c.653T>G; p.V218G; 17:7674878-7674878 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.874A>T; p.K292*; 17:7673746-7673746 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma | Substitution - Missense |
c.722delC; p.C242fs*5; 17:7674241-7674241 |
breast | carcinoma | Deletion - Frameshift |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
penis | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.526T>A; p.C176S; 17:7675086-7675086 |
oesophagus | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.447C>T; p.S149S; 17:7675165-7675165 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.818G>A; p.R273H; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma | Substitution - Missense |
c.653T>G; p.V218G; 17:7674878-7674878 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.526T>G; p.C176G; 17:7675086-7675086 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.466_483del18; p.R156_A161delRVRAMA; 17:7675129-7675146 |
lung | carcinoma; adenocarcinoma | Deletion - In frame |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | other; neoplasm | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.587G>C; p.R196P; 17:7674944-7674944 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.447C>T; p.S149S; 17:7675165-7675165 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - coding silent |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.625A>C; p.R209R; 17:7674906-7674906 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.653T>G; p.V218G; 17:7674878-7674878 |
central_nervous_system; brain | glioma; astrocytoma_Grade_I | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.703A>C; p.N235H; 17:7674260-7674260 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1044G>T; p.L348F; 17:7670665-7670665 |
liver | carcinoma | Substitution - Missense |
c.587G>C; p.R196P; 17:7674944-7674944 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
skin | malignant_melanoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
ovary | other; neoplasm | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma | Substitution - Missense |
c.1044G>T; p.L348F; 17:7670665-7670665 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.382C>T; p.P128S; 17:7675230-7675230 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.526T>A; p.C176S; 17:7675086-7675086 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
bone | osteosarcoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.587G>C; p.R196P; 17:7674944-7674944 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.874A>T; p.K292*; 17:7673746-7673746 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.395A>G; p.K132R; 17:7675217-7675217 |
ovary | carcinoma | Substitution - Missense |
c.382C>T; p.P128S; 17:7675230-7675230 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.587G>C; p.R196P; 17:7674944-7674944 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
soft_tissue; striated_muscle | rhabdomyosarcoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.587G>C; p.R196P; 17:7674944-7674944 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.919delG; p.A307fs*38; 17:7673701-7673701 |
lung | carcinoma; small_cell_carcinoma | Deletion - Frameshift |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.526T>A; p.C176S; 17:7675086-7675086 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
oesophagus | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.447C>T; p.S149S; 17:7675165-7675165 |
stomach | other; metaplasia | Substitution - coding silent |
c.818G>A; p.R273H; 17:7673802-7673802 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | adenoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
endometrium | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.526T>A; p.C176S; 17:7675086-7675086 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | other; neoplasm | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.408A>G; p.Q136Q; 17:7675204-7675204 |
lung | carcinoma | Substitution - coding silent |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.587G>C; p.R196P; 17:7674944-7674944 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
penis | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.722delC; p.C242fs*5; 17:7674241-7674241 |
thyroid | carcinoma | Deletion - Frameshift |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.382C>T; p.P128S; 17:7675230-7675230 |
stomach | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.874A>T; p.K292*; 17:7673746-7673746 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.587G>C; p.R196P; 17:7674944-7674944 |
stomach | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.653T>G; p.V218G; 17:7674878-7674878 |
skin | malignant_melanoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.831_832ins21; p.C277_P278insXXXXXXX; 17:7673788-7673789 |
breast | carcinoma | Insertion - In frame |
c.733G>T; p.G245C; 17:7674230-7674230 |
pancreas | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - Missense |
c.722delC; p.C242fs*5; 17:7674241-7674241 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
endometrium | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.526T>G; p.C176G; 17:7675086-7675086 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
skin; hand | adnexal_tumour; malignant_adnexal_tumour | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; oligoastrocytoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma | Substitution - Missense |
c.722delC; p.C242fs*5; 17:7674241-7674241 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
prostate | carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.526T>A; p.C176S; 17:7675086-7675086 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.246_247ins76; p.A83fs*91; 17:7676122-7676123 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1044G>T; p.L348F; 17:7670665-7670665 |
liver | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
oesophagus | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | other; neoplasm | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.526T>G; p.C176G; 17:7675086-7675086 |
pancreas | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
fallopian_tube | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | other; neoplasm | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.408A>G; p.Q136Q; 17:7675204-7675204 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; spindle_cell_carcinoma | Substitution - coding silent |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
skin; upper_extremity | carcinoma; Merkel_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.382C>T; p.P128S; 17:7675230-7675230 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.550G>C; p.D184H; 17:7675062-7675062 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.526T>A; p.C176S; 17:7675086-7675086 |
prostate | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1044G>T; p.L348F; 17:7670665-7670665 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
skin; hand | adnexal_tumour; malignant_adnexal_tumour | Substitution - Missense |
c.250delG; p.A84fs*39; 17:7676119-7676119 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Deletion - Frameshift |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.874A>T; p.K292*; 17:7673746-7673746 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
pancreas | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
endometrium | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; spindle_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.449_450insN; p.P151fs*30; 17:7675162-7675163 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.526T>G; p.C176G; 17:7675086-7675086 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
oesophagus | other; dysplasia | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; appendix | carcinoid-endocrine_tumour | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma | Substitution - Missense |
c.874A>T; p.K292*; 17:7673746-7673746 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
oesophagus | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.587G>C; p.R196P; 17:7674944-7674944 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; undifferentiated_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
penis | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.587G>C; p.R196P; 17:7674944-7674944 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.550G>C; p.D184H; 17:7675062-7675062 |
salivary_gland; parotid | carcinoma; mucoepidermoid_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; frontal_lobe | glioma; astrocytoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
endometrium | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.447C>T; p.S149S; 17:7675165-7675165 |
stomach | other; metaplasia | Substitution - coding silent |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
kidney | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.722delC; p.C242fs*5; 17:7674241-7674241 |
bone | osteosarcoma | Deletion - Frameshift |
c.526T>G; p.C176G; 17:7675086-7675086 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.550G>C; p.D184H; 17:7675062-7675062 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.447C>T; p.S149S; 17:7675165-7675165 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - coding silent |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.382C>T; p.P128S; 17:7675230-7675230 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; pleomorphic_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
cervix | carcinoma; endocervical_adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.395A>G; p.K132R; 17:7675217-7675217 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.840A>G; p.R280R; 17:7673780-7673780 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung; bronchus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
endometrium | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
lung | carcinoma; pleomorphic_carcinoma | Substitution - Missense |
c.382C>T; p.P128S; 17:7675230-7675230 |
breast | other; phyllodes_tumour | Substitution - Missense |
c.919delG; p.A307fs*38; 17:7673701-7673701 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.395A>G; p.K132R; 17:7675217-7675217 |
ovary | other; neoplasm | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.550G>C; p.D184H; 17:7675062-7675062 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.733G>T; p.G245C; 17:7674230-7674230 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
pancreas | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.526T>A; p.C176S; 17:7675086-7675086 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.587G>C; p.R196P; 17:7674944-7674944 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>A; p.R273H; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.433C>G; p.L145V; 17:7675179-7675179 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1174T>C; p.S392P; 17:7669617-7669617 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.672+1G>C; p.?; 17:7674858-7674858 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.839G>A; p.R280K; 17:7673781-7673781 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.732_736delCGGCA; p.G245fs*17; 17:7674227-7674231 |
breast | carcinoma | Deletion - Frameshift |
c.783T>G; p.S261R; 17:7673837-7673837 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.783T>G; p.S261R; 17:7673837-7673837 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.514G>A; p.V172I; 17:7675098-7675098 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
prostate | carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
breast | carcinoma | Substitution - Missense |
c.672+1G>C; p.?; 17:7674858-7674858 |
lung | carcinoma; adenocarcinoma | Unknown |
c.376T>C; p.Y126H; 17:7675236-7675236 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.928A>G; p.N310D; 17:7673600-7673600 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.703delA; p.N235fs*12; 17:7674260-7674260 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.839G>A; p.R280K; 17:7673781-7673781 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
skin | malignant_melanoma | Substitution - Missense |
c.575A>G; p.Q192R; 17:7674956-7674956 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; MALT_lymphoma | Substitution - Missense |
c.514G>A; p.V172I; 17:7675098-7675098 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.928A>G; p.N310D; 17:7673600-7673600 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
skin | malignant_melanoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
skin; head_neck | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.296C>T; p.S99F; 17:7676073-7676073 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
breast | carcinoma | Substitution - Missense |
c.924G>A; p.L308L; 17:7673604-7673604 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.575A>G; p.Q192R; 17:7674956-7674956 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.296C>T; p.S99F; 17:7676073-7676073 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.788_792delATCTA; p.N263fs*7; 17:7673828-7673832 |
liver | carcinoma | Deletion - Frameshift |
c.839G>A; p.R280K; 17:7673781-7673781 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.296C>T; p.S99F; 17:7676073-7676073 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Substitution - Missense |
c.433C>G; p.L145V; 17:7675179-7675179 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.575A>G; p.Q192R; 17:7674956-7674956 |
breast | carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.738_759del22; p.M246fs*92; 17:7674204-7674225 |
bone; femur | chondrosarcoma | Deletion - Frameshift |
c.839G>A; p.R280K; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
breast | carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
stomach | carcinoma | Substitution - Missense |
c.765_766insN; p.T256fs*8; 17:7674197-7674198 |
breast | carcinoma | Insertion - Frameshift |
c.783T>G; p.S261R; 17:7673837-7673837 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.575A>G; p.Q192R; 17:7674956-7674956 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.329G>A; p.R110H; 17:7676040-7676040 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
endometrium | carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
breast | carcinoma; medullary_carcinoma | Substitution - Missense |
c.306_310delCTACC; p.Y103fs*44; 17:7676059-7676063 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.839G>A; p.R280K; 17:7673781-7673781 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.745delA; p.R249fs*96; 17:7674218-7674218 |
urinary_tract; bladder | carcinoma | Deletion - Frameshift |
c.839G>A; p.R280K; 17:7673781-7673781 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.744_745insN; p.R249fs*15; 17:7674218-7674219 |
upper_aerodigestive_tract; mouth | other; dysplasia | Insertion - Frameshift |
c.839G>A; p.R280K; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.757_759delACC; p.T253delT; 17:7674204-7674206 |
breast | carcinoma | Deletion - In frame |
c.839G>A; p.R280K; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.514G>A; p.V172I; 17:7675098-7675098 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1029_1038del10; p.L344fs*23; 17:7670671-7670680 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.839G>A; p.R280K; 17:7673781-7673781 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.514G>A; p.V172I; 17:7675098-7675098 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.575A>G; p.Q192R; 17:7674956-7674956 |
haematopoietic_and_lymphoid_tissue; abdomen | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.514G>A; p.V172I; 17:7675098-7675098 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.329G>A; p.R110H; 17:7676040-7676040 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
breast | carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.541C>G; p.R181G; 17:7675071-7675071 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.514G>A; p.V172I; 17:7675098-7675098 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.238delC; p.P80fs*43; 17:7676131-7676131 |
breast | carcinoma | Deletion - Frameshift |
c.672+1G>C; p.?; 17:7674858-7674858 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.839G>A; p.R280K; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.928A>G; p.N310D; 17:7673600-7673600 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
breast | carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.750delC; p.I251fs*94; 17:7674213-7674213 |
breast | carcinoma | Deletion - Frameshift |
c.839G>A; p.R280K; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.309_310CC>AT; p.Y103_Q104>*; 17:7676059-7676060 |
stomach | carcinoma; intestinal_adenocarcinoma | Complex - deletion inframe |
c.839G>A; p.R280K; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
skin | malignant_melanoma | Substitution - Missense |
c.481_483GCC>ACT; p.A161T; 17:7675129-7675131 |
lung | carcinoma; blastoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
lung | carcinoma; pleomorphic_carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.514G>A; p.V172I; 17:7675098-7675098 |
large_intestine; appendix | carcinoma; adenocarcinoma | Substitution - Missense |
c.514G>A; p.V172I; 17:7675098-7675098 |
breast | carcinoma | Substitution - Missense |
c.343C>T; p.H115Y; 17:7676026-7676026 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.575A>G; p.Q192R; 17:7674956-7674956 |
breast | carcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.839G>A; p.R280K; 17:7673781-7673781 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.767_769delCAC; p.T256_L257>M; 17:7674194-7674196 |
lung | carcinoma; adenocarcinoma | Complex - deletion inframe |
c.839G>A; p.R280K; 17:7673781-7673781 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.613_614insC; p.Y205fs*4; 17:7674917-7674918 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.835G>A; p.G279R; 17:7673785-7673785 |
large_intestine; colon | other; hamartoma | Substitution - Missense |
c.1126T>C; p.S376P; 17:7669665-7669665 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.835G>A; p.G279R; 17:7673785-7673785 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.487T>G; p.Y163D; 17:7675125-7675125 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.613_614insC; p.Y205fs*4; 17:7674917-7674918 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.958A>T; p.K320*; 17:7673570-7673570 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.835G>A; p.G279R; 17:7673785-7673785 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Missense |
c.487T>G; p.Y163D; 17:7675125-7675125 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.455_456insC; p.P153fs*28; 17:7675156-7675157 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.958A>T; p.K320*; 17:7673570-7673570 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Nonsense |
c.958A>T; p.K320*; 17:7673570-7673570 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.613_614insC; p.Y205fs*4; 17:7674917-7674918 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.855_856GG>TA; p.E285_E286>DK; 17:7673764-7673765 |
lung | carcinoma; adenocarcinoma | Complex - compound substitution |
c.484A>G; p.I162V; 17:7675128-7675128 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.835G>A; p.G279R; 17:7673785-7673785 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.156A>T; p.Q52H; 17:7676213-7676213 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.455_456insC; p.P153fs*28; 17:7675156-7675157 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Insertion - Frameshift |
c.487T>G; p.Y163D; 17:7675125-7675125 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.835G>A; p.G279R; 17:7673785-7673785 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.784delG; p.G262fs*83; 17:7673836-7673836 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.484A>G; p.I162V; 17:7675128-7675128 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.514_522delGTTGTGAGG; p.V172_R174delVVR; 17:7675090-7675098 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.620A>C; p.D207A; 17:7674911-7674911 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.484A>G; p.I162V; 17:7675128-7675128 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.613_614insC; p.Y205fs*4; 17:7674917-7674918 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.784delG; p.G262fs*83; 17:7673836-7673836 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.835G>A; p.G279R; 17:7673785-7673785 |
liver | other; hepatoblastoma | Substitution - Missense |
c.222C>T; p.A74A; 17:7676147-7676147 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.375+2T>A; p.?; 17:7675992-7675992 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.252_262del11; p.A86fs*59; 17:7676107-7676117 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.487T>G; p.Y163D; 17:7675125-7675125 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.210_211delTC; p.P72fs*76; 17:7676158-7676159 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.375+2T>A; p.?; 17:7675992-7675992 |
ovary | carcinoma; endometrioid_carcinoma | Unknown |
c.484A>G; p.I162V; 17:7675128-7675128 |
ovary | carcinoma | Substitution - Missense |
c.784delG; p.G262fs*83; 17:7673836-7673836 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.835G>A; p.G279R; 17:7673785-7673785 |
lung | carcinoma; lymphoepithelioma_like_carcinoma | Substitution - Missense |
c.455_456insC; p.P153fs*28; 17:7675156-7675157 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.487T>G; p.Y163D; 17:7675125-7675125 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.455_456insC; p.P153fs*28; 17:7675156-7675157 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.1126T>C; p.S376P; 17:7669665-7669665 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.487T>G; p.Y163D; 17:7675125-7675125 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.484A>G; p.I162V; 17:7675128-7675128 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.783-1G>T; p.?; 17:7673838-7673838 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.97-1G>C; p.?; 17:7676273-7676273 |
large_intestine; rectum | carcinoma; adenocarcinoma | Unknown |
c.710T>C; p.M237T; 17:7674253-7674253 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.487T>A; p.Y163N; 17:7675125-7675125 |
liver | carcinoma | Substitution - Missense |
c.783-1G>T; p.?; 17:7673838-7673838 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.783-1G>T; p.?; 17:7673838-7673838 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.487T>A; p.Y163N; 17:7675125-7675125 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.246G>A; p.P82P; 17:7676123-7676123 |
breast | carcinoma | Substitution - coding silent |
c.487T>A; p.Y163N; 17:7675125-7675125 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.405C>T; p.C135C; 17:7675207-7675207 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.460_473del14; p.G154fs*22; 17:7675139-7675152 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.487T>A; p.Y163N; 17:7675125-7675125 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Missense |
c.1101-2A>T; p.?; 17:7669692-7669692 |
urinary_tract; bladder | carcinoma | Unknown |
c.487T>A; p.Y163N; 17:7675125-7675125 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.487T>A; p.Y163N; 17:7675125-7675125 |
breast | carcinoma | Substitution - Missense |
c.1009C>A; p.R337S; 17:7670700-7670700 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.783-1G>T; p.?; 17:7673838-7673838 |
ovary | other; neoplasm | Unknown |
c.487T>A; p.Y163N; 17:7675125-7675125 |
breast | carcinoma | Substitution - Missense |
c.1009C>A; p.R337S; 17:7670700-7670700 |
oesophagus | carcinoma | Substitution - Missense |
c.1009C>A; p.R337S; 17:7670700-7670700 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.560_561insN; p.L188fs*21; 17:7674970-7674971 |
oesophagus | carcinoma | Insertion - Frameshift |
c.487T>A; p.Y163N; 17:7675125-7675125 |
breast | carcinoma | Substitution - Missense |
c.783-1G>T; p.?; 17:7673838-7673838 |
large_intestine | carcinoma; adenocarcinoma | Unknown |
c.487T>A; p.Y163N; 17:7675125-7675125 |
liver | carcinoma | Substitution - Missense |
c.487T>A; p.Y163N; 17:7675125-7675125 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.965delC; p.P322fs*23; 17:7673563-7673563 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.293C>T; p.P98L; 17:7676076-7676076 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.783-1G>T; p.?; 17:7673838-7673838 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.783-1G>T; p.?; 17:7673838-7673838 |
lung | carcinoma; adenocarcinoma | Unknown |
c.783-1G>T; p.?; 17:7673838-7673838 |
lung | carcinoma; adenocarcinoma | Unknown |
c.754delC; p.L252fs*93; 17:7674209-7674209 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Deletion - Frameshift |
c.993+1G>C; p.?; 17:7673534-7673534 |
liver | carcinoma | Unknown |
c.993+1G>C; p.?; 17:7673534-7673534 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.405C>T; p.C135C; 17:7675207-7675207 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.487T>A; p.Y163N; 17:7675125-7675125 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.405C>T; p.C135C; 17:7675207-7675207 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.783-1G>T; p.?; 17:7673838-7673838 |
lung | carcinoma; adenocarcinoma | Unknown |
c.487T>A; p.Y163N; 17:7675125-7675125 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.783-1G>T; p.?; 17:7673838-7673838 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.730_732delGGC; p.G245delG; 17:7674231-7674233 |
breast | carcinoma | Deletion - In frame |
c.783-1G>T; p.?; 17:7673838-7673838 |
lung | carcinoma; adenocarcinoma | Unknown |
c.347C>T; p.S116F; 17:7676022-7676022 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.783-1G>T; p.?; 17:7673838-7673838 |
breast | carcinoma | Unknown |
c.97-1G>C; p.?; 17:7676273-7676273 |
breast | carcinoma | Unknown |
c.487T>A; p.Y163N; 17:7675125-7675125 |
breast | carcinoma | Substitution - Missense |
c.406_417del12; p.Q136_K139delQLAK; 17:7675195-7675206 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Deletion - In frame |
c.610_630del21; p.E204_N210delEYLDDRN; 17:7674901-7674921 |
lung | carcinoma; adenocarcinoma | Deletion - In frame |
c.487T>A; p.Y163N; 17:7675125-7675125 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.636_637insTT; p.R213fs*35; 17:7674894-7674895 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.487T>A; p.Y163N; 17:7675125-7675125 |
liver | carcinoma | Substitution - Missense |
c.783-1G>T; p.?; 17:7673838-7673838 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.405C>T; p.C135C; 17:7675207-7675207 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.783-1G>T; p.?; 17:7673838-7673838 |
stomach | other; metaplasia | Unknown |
c.993+1G>C; p.?; 17:7673534-7673534 |
liver | carcinoma | Unknown |
c.487T>A; p.Y163N; 17:7675125-7675125 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.487T>A; p.Y163N; 17:7675125-7675125 |
breast | carcinoma | Substitution - Missense |
c.783-1G>T; p.?; 17:7673838-7673838 |
breast | carcinoma | Unknown |
c.637_643delCGACATA; p.R213fs*32; 17:7674888-7674894 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.487T>A; p.Y163N; 17:7675125-7675125 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.783-1G>T; p.?; 17:7673838-7673838 |
stomach | carcinoma; intestinal_adenocarcinoma | Unknown |
c.710T>C; p.M237T; 17:7674253-7674253 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.487T>A; p.Y163N; 17:7675125-7675125 |
breast | carcinoma | Substitution - Missense |
c.531_532insN; p.H178fs*3; 17:7675080-7675081 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.754delC; p.L252fs*93; 17:7674209-7674209 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.755_756insN; p.T253fs*11; 17:7674207-7674208 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.754delC; p.L252fs*93; 17:7674209-7674209 |
lung | carcinoma | Deletion - Frameshift |
c.293C>T; p.P98L; 17:7676076-7676076 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.783-1G>T; p.?; 17:7673838-7673838 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.754delC; p.L252fs*93; 17:7674209-7674209 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.420_421insN; p.C141fs*8; 17:7675191-7675192 |
ovary | carcinoma | Insertion - Frameshift |
c.487T>A; p.Y163N; 17:7675125-7675125 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.754delC; p.L252fs*93; 17:7674209-7674209 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.405C>T; p.C135C; 17:7675207-7675207 |
thyroid | carcinoma | Substitution - coding silent |
c.783-1G>T; p.?; 17:7673838-7673838 |
pancreas | carcinoma | Unknown |
c.710T>C; p.M237T; 17:7674253-7674253 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.710T>C; p.M237T; 17:7674253-7674253 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.420_421insN; p.C141fs*8; 17:7675191-7675192 |
stomach | carcinoma | Insertion - Frameshift |
c.402_419del18; p.Q136_C141delQLAKTC; 17:7675193-7675210 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.620_627delATGACAGA; p.D207fs*6; 17:7674904-7674911 |
skin; head_neck | carcinoma; basal_cell_carcinoma | Deletion - Frameshift |
c.783-1G>T; p.?; 17:7673838-7673838 |
ovary | other; neoplasm | Unknown |
c.487T>A; p.Y163N; 17:7675125-7675125 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.783-1G>T; p.?; 17:7673838-7673838 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.487T>A; p.Y163N; 17:7675125-7675125 |
oesophagus | carcinoma | Substitution - Missense |
c.487T>A; p.Y163N; 17:7675125-7675125 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.531_532insN; p.H178fs*3; 17:7675080-7675081 |
lung | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.783-1G>T; p.?; 17:7673838-7673838 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.293C>T; p.P98L; 17:7676076-7676076 |
skin; leg | other; keratosis | Substitution - Missense |
c.710T>C; p.M237T; 17:7674253-7674253 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.840A>T; p.R280S; 17:7673780-7673780 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.438G>A; p.W146*; 17:7675174-7675174 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.840A>T; p.R280S; 17:7673780-7673780 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.623A>G; p.D208G; 17:7674908-7674908 |
breast | carcinoma | Substitution - Missense |
c.417G>A; p.K139K; 17:7675195-7675195 |
ovary | low_malignant_potential_(borderline)_tumour; serous | Substitution - coding silent |
c.840A>T; p.R280S; 17:7673780-7673780 |
oesophagus | carcinoma | Substitution - Missense |
c.475G>A; p.A159T; 17:7675137-7675137 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.452_453CC>TT; p.P151L; 17:7675159-7675160 |
skin; eye | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.438G>A; p.W146*; 17:7675174-7675174 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.438G>A; p.W146*; 17:7675174-7675174 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Nonsense |
c.438G>A; p.W146*; 17:7675174-7675174 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.623A>G; p.D208G; 17:7674908-7674908 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.438G>A; p.W146*; 17:7675174-7675174 |
urinary_tract; bladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.438G>A; p.W146*; 17:7675174-7675174 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.286T>C; p.S96P; 17:7676083-7676083 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.438G>A; p.W146*; 17:7675174-7675174 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.216_415del200; p.V73fs*9; 17:7675197-7676153 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - Frameshift |
c.840A>T; p.R280S; 17:7673780-7673780 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.417G>A; p.K139K; 17:7675195-7675195 |
breast | carcinoma | Substitution - coding silent |
c.438G>A; p.W146*; 17:7675174-7675174 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.840A>T; p.R280S; 17:7673780-7673780 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.715_726del12; p.N239_C242delNSSC; 17:7674237-7674248 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.510_511delGG; p.E171fs*9; 17:7675101-7675102 |
thyroid | carcinoma | Deletion - Frameshift |
c.438G>A; p.W146*; 17:7675174-7675174 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.347C>G; p.S116C; 17:7676022-7676022 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.417G>A; p.K139K; 17:7675195-7675195 |
breast | carcinoma | Substitution - coding silent |
c.370_371insN; p.C124fs*25; 17:7675998-7675999 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.438G>A; p.W146*; 17:7675174-7675174 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.438G>A; p.W146*; 17:7675174-7675174 |
upper_aerodigestive_tract; mouth | other; dysplasia | Substitution - Nonsense |
c.438G>A; p.W146*; 17:7675174-7675174 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.623A>G; p.D208G; 17:7674908-7674908 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.840A>T; p.R280S; 17:7673780-7673780 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.438G>A; p.W146*; 17:7675174-7675174 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.438G>A; p.W146*; 17:7675174-7675174 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.608T>C; p.V203A; 17:7674923-7674923 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.979T>G; p.Y327D; 17:7673549-7673549 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.286T>C; p.S96P; 17:7676083-7676083 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.560G>T; p.G187V; 17:7674971-7674971 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.840A>T; p.R280S; 17:7673780-7673780 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.475G>A; p.A159T; 17:7675137-7675137 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.438G>A; p.W146*; 17:7675174-7675174 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.840A>T; p.R280S; 17:7673780-7673780 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.438G>A; p.W146*; 17:7675174-7675174 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.475G>A; p.A159T; 17:7675137-7675137 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.672+17G>A; p.?; 17:7674842-7674842 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Unknown |
c.438G>A; p.W146*; 17:7675174-7675174 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Nonsense |
c.608T>C; p.V203A; 17:7674923-7674923 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.438G>A; p.W146*; 17:7675174-7675174 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.893A>C; p.E298A; 17:7673727-7673727 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.770_771delTG; p.L257fs*6; 17:7674192-7674193 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.407A>C; p.Q136P; 17:7675205-7675205 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.438G>A; p.W146*; 17:7675174-7675174 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.417G>A; p.K139K; 17:7675195-7675195 |
breast | other; fibroadenoma | Substitution - coding silent |
c.438G>A; p.W146*; 17:7675174-7675174 |
ovary | carcinoma | Substitution - Nonsense |
c.475G>A; p.A159T; 17:7675137-7675137 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.438G>A; p.W146*; 17:7675174-7675174 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.255T>C; p.P85P; 17:7676114-7676114 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.286T>C; p.S96P; 17:7676083-7676083 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.407A>C; p.Q136P; 17:7675205-7675205 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.401_418del18; p.F134_T140>S; 17:7675194-7675211 |
breast | carcinoma | Complex - deletion inframe |
c.782+2_782+11delTCAGGAGCCA; p.?; 17:7674170-7674179 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.438G>A; p.W146*; 17:7675174-7675174 |
breast | carcinoma | Substitution - Nonsense |
c.770_771delTG; p.L257fs*6; 17:7674192-7674193 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.438G>A; p.W146*; 17:7675174-7675174 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.721_723delTCC; p.S241delS; 17:7674240-7674242 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.721_723delTCC; p.S241delS; 17:7674240-7674242 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.438G>A; p.W146*; 17:7675174-7675174 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.840A>T; p.R280S; 17:7673780-7673780 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.475G>A; p.A159T; 17:7675137-7675137 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.438G>A; p.W146*; 17:7675174-7675174 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.475G>A; p.A159T; 17:7675137-7675137 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.438G>A; p.W146*; 17:7675174-7675174 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.438G>A; p.W146*; 17:7675174-7675174 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.715_726del12; p.N239_C242delNSSC; 17:7674237-7674248 |
breast | other; neoplasm | Deletion - In frame |
c.417G>A; p.K139K; 17:7675195-7675195 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.560G>T; p.G187V; 17:7674971-7674971 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.438G>A; p.W146*; 17:7675174-7675174 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.255T>C; p.P85P; 17:7676114-7676114 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.438G>A; p.W146*; 17:7675174-7675174 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.475G>A; p.A159T; 17:7675137-7675137 |
oesophagus | other; dysplasia | Substitution - Missense |
c.438G>A; p.W146*; 17:7675174-7675174 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.843_844CC>AT; p.D281_R282>EW; 17:7673776-7673777 |
skin; face | carcinoma; basal_cell_carcinoma | Complex - compound substitution |
c.475G>A; p.A159T; 17:7675137-7675137 |
soft_tissue; fibrous_tissue_and_uncertain_o | synovial_sarcoma | Substitution - Missense |
c.721_723delTCC; p.S241delS; 17:7674240-7674242 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.560G>T; p.G187V; 17:7674971-7674971 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.407A>C; p.Q136P; 17:7675205-7675205 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.623A>G; p.D208G; 17:7674908-7674908 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Substitution - Missense |
c.840A>T; p.R280S; 17:7673780-7673780 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.417G>A; p.K139K; 17:7675195-7675195 |
soft_tissue; fibrous_tissue_and_uncertain_o | synovial_sarcoma | Substitution - coding silent |
c.438G>A; p.W146*; 17:7675174-7675174 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.438G>A; p.W146*; 17:7675174-7675174 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.715_726del12; p.N239_C242delNSSC; 17:7674237-7674248 |
breast | carcinoma | Deletion - In frame |
c.840A>T; p.R280S; 17:7673780-7673780 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.840A>T; p.R280S; 17:7673780-7673780 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.438G>A; p.W146*; 17:7675174-7675174 |
large_intestine; rectum | carcinoma | Substitution - Nonsense |
c.417G>A; p.K139K; 17:7675195-7675195 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.438G>A; p.W146*; 17:7675174-7675174 |
oesophagus | other; Barrett_oesophagus | Substitution - Nonsense |
c.623A>G; p.D208G; 17:7674908-7674908 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.438G>A; p.W146*; 17:7675174-7675174 |
breast | carcinoma | Substitution - Nonsense |
c.677G>C; p.G226A; 17:7674286-7674286 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.472C>G; p.R158G; 17:7675140-7675140 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.815T>G; p.V272G; 17:7673805-7673805 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.525C>T; p.R175R; 17:7675087-7675087 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.920C>T; p.A307V; 17:7673608-7673608 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.472C>G; p.R158G; 17:7675140-7675140 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.380C>A; p.S127Y; 17:7675232-7675232 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.727_734delATGGGCGG; p.M243fs*18; 17:7674229-7674236 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.327C>T; p.F109F; 17:7676042-7676042 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm | Substitution - coding silent |
c.529C>T; p.P177S; 17:7675083-7675083 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.804C>T; p.N268N; 17:7673816-7673816 |
lung; upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.529C>T; p.P177S; 17:7675083-7675083 |
prostate | carcinoma | Substitution - Missense |
c.868C>T; p.R290C; 17:7673752-7673752 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.650T>G; p.V217G; 17:7674881-7674881 |
pancreas | carcinoma | Substitution - Missense |
c.825T>G; p.C275W; 17:7673795-7673795 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.529C>T; p.P177S; 17:7675083-7675083 |
prostate | carcinoma | Substitution - Missense |
c.825T>G; p.C275W; 17:7673795-7673795 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.472C>G; p.R158G; 17:7675140-7675140 |
breast | carcinoma | Substitution - Missense |
c.529C>T; p.P177S; 17:7675083-7675083 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.534C>T; p.H178H; 17:7675078-7675078 |
large_intestine; rectum | carcinoma | Substitution - coding silent |
c.380C>A; p.S127Y; 17:7675232-7675232 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.380C>A; p.S127Y; 17:7675232-7675232 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.825T>G; p.C275W; 17:7673795-7673795 |
skin | malignant_melanoma | Substitution - Missense |
c.529C>T; p.P177S; 17:7675083-7675083 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.897G>T; p.L299L; 17:7673723-7673723 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.868C>T; p.R290C; 17:7673752-7673752 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.504_505insNN; p.M169fs*2; 17:7675107-7675108 |
breast | carcinoma | Insertion - Frameshift |
c.380C>A; p.S127Y; 17:7675232-7675232 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.468_469insNNNN; p.V157fs*25; 17:7675143-7675144 |
breast | carcinoma | Insertion - Frameshift |
c.380C>A; p.S127Y; 17:7675232-7675232 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.529C>T; p.P177S; 17:7675083-7675083 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.650T>G; p.V217G; 17:7674881-7674881 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.920C>T; p.A307V; 17:7673608-7673608 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.506T>C; p.M169T; 17:7675106-7675106 |
upper_aerodigestive_tract; mouth | other; dysplasia | Substitution - Missense |
c.825T>G; p.C275W; 17:7673795-7673795 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.472C>G; p.R158G; 17:7675140-7675140 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.868C>T; p.R290C; 17:7673752-7673752 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.525C>T; p.R175R; 17:7675087-7675087 |
large_intestine; rectum | carcinoma | Substitution - coding silent |
c.472C>G; p.R158G; 17:7675140-7675140 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.380C>A; p.S127Y; 17:7675232-7675232 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.506T>C; p.M169T; 17:7675106-7675106 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.677G>C; p.G226A; 17:7674286-7674286 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.815T>G; p.V272G; 17:7673805-7673805 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1031T>G; p.L344R; 17:7670678-7670678 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.380C>A; p.S127Y; 17:7675232-7675232 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.529C>T; p.P177S; 17:7675083-7675083 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.380C>A; p.S127Y; 17:7675232-7675232 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.868C>T; p.R290C; 17:7673752-7673752 |
skin | malignant_melanoma | Substitution - Missense |
c.650T>G; p.V217G; 17:7674881-7674881 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1031T>G; p.L344R; 17:7670678-7670678 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.825T>G; p.C275W; 17:7673795-7673795 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.529C>T; p.P177S; 17:7675083-7675083 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.650T>G; p.V217G; 17:7674881-7674881 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.601delT; p.L201fs*46; 17:7674930-7674930 |
oesophagus | carcinoma | Deletion - Frameshift |
c.472C>G; p.R158G; 17:7675140-7675140 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.815T>G; p.V272G; 17:7673805-7673805 |
skin | malignant_melanoma | Substitution - Missense |
c.472C>G; p.R158G; 17:7675140-7675140 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.380C>A; p.S127Y; 17:7675232-7675232 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.472C>G; p.R158G; 17:7675140-7675140 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.650T>G; p.V217G; 17:7674881-7674881 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.529C>T; p.P177S; 17:7675083-7675083 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.815T>G; p.V272G; 17:7673805-7673805 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.868C>T; p.R290C; 17:7673752-7673752 |
skin | malignant_melanoma | Substitution - Missense |
c.529C>T; p.P177S; 17:7675083-7675083 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.506T>C; p.M169T; 17:7675106-7675106 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.380C>A; p.S127Y; 17:7675232-7675232 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.804C>T; p.N268N; 17:7673816-7673816 |
lung; upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.825T>G; p.C275W; 17:7673795-7673795 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.765C>G; p.I255M; 17:7674198-7674198 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.601delT; p.L201fs*46; 17:7674930-7674930 |
oesophagus | carcinoma | Deletion - Frameshift |
c.825T>G; p.C275W; 17:7673795-7673795 |
skin | malignant_melanoma | Substitution - Missense |
c.815T>G; p.V272G; 17:7673805-7673805 |
endometrium | carcinoma | Substitution - Missense |
c.472C>G; p.R158G; 17:7675140-7675140 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.815T>G; p.V272G; 17:7673805-7673805 |
pancreas | carcinoma | Substitution - Missense |
c.506T>C; p.M169T; 17:7675106-7675106 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.472C>G; p.R158G; 17:7675140-7675140 |
upper_aerodigestive_tract; head_neck | carcinoma | Substitution - Missense |
c.412_427del16; p.A138fs*27; 17:7675185-7675200 |
breast | carcinoma | Deletion - Frameshift |
c.534C>T; p.H178H; 17:7675078-7675078 |
thymus | thymic_carcinoma | Substitution - coding silent |
c.829T>C; p.C277R; 17:7673791-7673791 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.825T>G; p.C275W; 17:7673795-7673795 |
breast | carcinoma | Substitution - Missense |
c.573T>A; p.P191P; 17:7674958-7674958 |
skin | malignant_melanoma; lentigo_maligna | Substitution - coding silent |
c.815T>G; p.V272G; 17:7673805-7673805 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.472C>G; p.R158G; 17:7675140-7675140 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.472C>G; p.R158G; 17:7675140-7675140 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.868C>T; p.R290C; 17:7673752-7673752 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; spindle_cell_carcinoma | Substitution - Missense |
c.482C>G; p.A161G; 17:7675130-7675130 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.985A>G; p.T329A; 17:7673543-7673543 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1176A>G; p.S392S; 17:7669615-7669615 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.815T>G; p.V272G; 17:7673805-7673805 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.380C>A; p.S127Y; 17:7675232-7675232 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
ovary | carcinoma | Substitution - Missense |
c.555C>T; p.S185S; 17:7675057-7675057 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.408_409insN; p.L137fs*12; 17:7675203-7675204 |
breast | carcinoma | Insertion - Frameshift |
c.475delG; p.A159fs*11; 17:7675137-7675137 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.535C>T; p.H179Y; 17:7675077-7675077 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.638G>C; p.R213P; 17:7674893-7674893 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.638G>C; p.R213P; 17:7674893-7674893 |
eye; conjunctiva | other; pterygium | Substitution - Missense |
c.475delG; p.A159fs*11; 17:7675137-7675137 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.638G>C; p.R213P; 17:7674893-7674893 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.490A>T; p.K164*; 17:7675122-7675122 |
lung | carcinoma; large_cell_carcinoma | Substitution - Nonsense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.490A>T; p.K164*; 17:7675122-7675122 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Nonsense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.513_539del27; p.V172_E180delVVRRCPHHE; 17:7675073-7675099 |
large_intestine; appendix | carcinoma; adenocarcinoma | Deletion - In frame |
c.535C>T; p.H179Y; 17:7675077-7675077 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.431A>G; p.Q144R; 17:7675181-7675181 |
bone | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | Substitution - Missense |
c.490A>T; p.K164*; 17:7675122-7675122 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.576G>A; p.Q192Q; 17:7674955-7674955 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.535C>T; p.H179Y; 17:7675077-7675077 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.446C>T; p.S149F; 17:7675166-7675166 |
skin; arm | other; keratosis | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.530_535delCCCACC; p.P177_H178delPH; 17:7675077-7675082 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.535C>T; p.H179Y; 17:7675077-7675077 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.638G>C; p.R213P; 17:7674893-7674893 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.843_844CC>GT; p.D281_R282>EW; 17:7673776-7673777 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Complex - compound substitution |
c.555C>T; p.S185S; 17:7675057-7675057 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - coding silent |
c.576G>A; p.Q192Q; 17:7674955-7674955 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.475delG; p.A159fs*11; 17:7675137-7675137 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.535C>T; p.H179Y; 17:7675077-7675077 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.475delG; p.A159fs*11; 17:7675137-7675137 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.535C>T; p.H179Y; 17:7675077-7675077 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.490A>T; p.K164*; 17:7675122-7675122 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.431A>G; p.Q144R; 17:7675181-7675181 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
lung | carcinoma; undifferentiated_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
eye; conjunctiva | other; pterygium | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
thyroid | other; neoplasm | Substitution - Missense |
c.437_438GG>A; p.W146fs*1; 17:7675174-7675175 |
breast | carcinoma | Complex - frameshift |
c.535C>T; p.H179Y; 17:7675077-7675077 |
oesophagus | carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
breast | carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
large_intestine; appendix | carcinoid-endocrine_tumour | Substitution - Missense |
c.446C>T; p.S149F; 17:7675166-7675166 |
skin; face | in_situ_epithelial_neoplasm | Substitution - Missense |
c.490A>T; p.K164*; 17:7675122-7675122 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
ovary | carcinoma | Substitution - Missense |
c.431A>G; p.Q144R; 17:7675181-7675181 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.638G>C; p.R213P; 17:7674893-7674893 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.490A>T; p.K164*; 17:7675122-7675122 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.892_905del14; p.L299fs*2; 17:7673715-7673728 |
breast | carcinoma | Deletion - Frameshift |
c.490A>T; p.K164*; 17:7675122-7675122 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
skin; arm | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
breast | carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.500_501insN; p.Q167fs*14; 17:7675111-7675112 |
lung | carcinoma; non_small_cell_carcinoma | Insertion - Frameshift |
c.535C>T; p.H179Y; 17:7675077-7675077 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.576G>A; p.Q192Q; 17:7674955-7674955 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.535C>T; p.H179Y; 17:7675077-7675077 |
ovary | other; neoplasm | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
oesophagus | carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
prostate | carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
pancreas | carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.555C>T; p.S185S; 17:7675057-7675057 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.431A>G; p.Q144R; 17:7675181-7675181 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.844_861del18; p.R282_E287delRRTEEE; 17:7673759-7673776 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.535C>T; p.H179Y; 17:7675077-7675077 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.446C>T; p.S149F; 17:7675166-7675166 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Substitution - Missense |
c.490A>T; p.K164*; 17:7675122-7675122 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.685_696del12; p.C229_I232delCTTI; 17:7674267-7674278 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.535C>T; p.H179Y; 17:7675077-7675077 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.555C>T; p.S185S; 17:7675057-7675057 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.535C>T; p.H179Y; 17:7675077-7675077 |
small_intestine; duodenum | carcinoma; adenocarcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.220_230del11; p.A74fs*71; 17:7676139-7676149 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.535C>T; p.H179Y; 17:7675077-7675077 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.431A>G; p.Q144R; 17:7675181-7675181 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.463A>T; p.T155S; 17:7675149-7675149 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour | Substitution - Missense |
c.450delA; p.P152fs*18; 17:7675162-7675162 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Deletion - Frameshift |
c.535C>T; p.H179Y; 17:7675077-7675077 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; MALT_lymphoma | Substitution - Missense |
c.490A>T; p.K164*; 17:7675122-7675122 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.500_501insN; p.Q167fs*14; 17:7675111-7675112 |
lung | carcinoma; non_small_cell_carcinoma | Insertion - Frameshift |
c.535C>T; p.H179Y; 17:7675077-7675077 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.638G>C; p.R213P; 17:7674893-7674893 |
liver | carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.15G>T; p.Q5H; 17:7676580-7676580 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
lung | carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
breast | carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Missense |
c.446C>T; p.S149F; 17:7675166-7675166 |
ovary | other; neoplasm | Substitution - Missense |
c.490A>T; p.K164*; 17:7675122-7675122 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.446C>T; p.S149F; 17:7675166-7675166 |
thyroid | carcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.490A>T; p.K164*; 17:7675122-7675122 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
bone | osteosarcoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
breast | carcinoma | Substitution - Missense |
c.450delA; p.P152fs*18; 17:7675162-7675162 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.535C>T; p.H179Y; 17:7675077-7675077 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.535C>T; p.H179Y; 17:7675077-7675077 |
breast | carcinoma | Substitution - Missense |
c.799C>T; p.R267W; 17:7673821-7673821 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.822_823insN; p.C275fs*31; 17:7673797-7673798 |
large_intestine; rectum | carcinoma | Insertion - Frameshift |
c.747_748insN; p.P250fs*14; 17:7674215-7674216 |
lung | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.748C>T; p.P250S; 17:7674215-7674215 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.851_852ins21; p.E287_N288ins*; 17:7673768-7673769 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Insertion - In frame |
c.799C>T; p.R267W; 17:7673821-7673821 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.571C>T; p.P191S; 17:7674960-7674960 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.822_823insN; p.C275fs*31; 17:7673797-7673798 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Insertion - Frameshift |
c.423C>A; p.C141*; 17:7675189-7675189 |
breast | carcinoma | Substitution - Nonsense |
c.704_705insNNN; p.N235>XX; 17:7674258-7674259 |
oesophagus | carcinoma | Complex - insertion inframe |
c.634_635delTT; p.F212fs*3; 17:7674896-7674897 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.799C>T; p.R267W; 17:7673821-7673821 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.808T>A; p.F270I; 17:7673812-7673812 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.673-2A>G; p.?; 17:7674292-7674292 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.1006delG; p.E336fs*9; 17:7670703-7670703 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.748C>T; p.P250S; 17:7674215-7674215 |
skin; head_neck | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.748C>T; p.P250S; 17:7674215-7674215 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.673-2A>G; p.?; 17:7674292-7674292 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.799C>T; p.R267W; 17:7673821-7673821 |
liver | carcinoma | Substitution - Missense |
c.799C>T; p.R267W; 17:7673821-7673821 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.423C>A; p.C141*; 17:7675189-7675189 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.730_731delGG; p.G244fs*19; 17:7674232-7674233 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.748C>T; p.P250S; 17:7674215-7674215 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.423C>A; p.C141*; 17:7675189-7675189 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.799C>T; p.R267W; 17:7673821-7673821 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.808T>A; p.F270I; 17:7673812-7673812 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.799C>T; p.R267W; 17:7673821-7673821 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.673-2A>G; p.?; 17:7674292-7674292 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.808T>A; p.F270I; 17:7673812-7673812 |
oesophagus | carcinoma | Substitution - Missense |
c.748C>T; p.P250S; 17:7674215-7674215 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.799C>T; p.R267W; 17:7673821-7673821 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - Missense |
c.423C>A; p.C141*; 17:7675189-7675189 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.919+2T>G; p.?; 17:7673699-7673699 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.396_397insN; p.M133fs*16; 17:7675215-7675216 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.799C>T; p.R267W; 17:7673821-7673821 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.799C>T; p.R267W; 17:7673821-7673821 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.634_635delTT; p.F212fs*3; 17:7674896-7674897 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.423C>A; p.C141*; 17:7675189-7675189 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.808T>A; p.F270I; 17:7673812-7673812 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.799C>T; p.R267W; 17:7673821-7673821 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.499delC; p.Q167fs*3; 17:7675113-7675113 |
central_nervous_system; brain | glioma; astrocytoma | Deletion - Frameshift |
c.799C>T; p.R267W; 17:7673821-7673821 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.634_635delTT; p.F212fs*3; 17:7674896-7674897 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.748C>T; p.P250S; 17:7674215-7674215 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.919+32G>T; p.?; 17:7673669-7673669 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.1036G>T; p.E346*; 17:7670673-7670673 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.799C>T; p.R267W; 17:7673821-7673821 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1036G>T; p.E346*; 17:7670673-7670673 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.397A>G; p.M133V; 17:7675215-7675215 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.799C>T; p.R267W; 17:7673821-7673821 |
liver | carcinoma | Substitution - Missense |
c.799C>T; p.R267W; 17:7673821-7673821 |
ovary | carcinoma | Substitution - Missense |
c.799C>T; p.R267W; 17:7673821-7673821 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.808T>A; p.F270I; 17:7673812-7673812 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.799C>T; p.R267W; 17:7673821-7673821 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.919+2T>G; p.?; 17:7673699-7673699 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.423C>A; p.C141*; 17:7675189-7675189 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.668C>T; p.P223L; 17:7674863-7674863 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.668C>T; p.P223L; 17:7674863-7674863 |
meninges | meningioma | Substitution - Missense |
c.799C>T; p.R267W; 17:7673821-7673821 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.752_753insN; p.I251fs*13; 17:7674210-7674211 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.799C>T; p.R267W; 17:7673821-7673821 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.412_423del12; p.A138_C141delAKTC; 17:7675189-7675200 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.808T>A; p.F270I; 17:7673812-7673812 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.748C>T; p.P250S; 17:7674215-7674215 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.799C>T; p.R267W; 17:7673821-7673821 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.668C>T; p.P223L; 17:7674863-7674863 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.739_740AA>TT; p.N247F; 17:7674223-7674224 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.799C>T; p.R267W; 17:7673821-7673821 |
prostate | carcinoma | Substitution - Missense |
c.799C>T; p.R267W; 17:7673821-7673821 |
liver | carcinoma | Substitution - Missense |
c.783-6_783-2delGAGTA; p.?; 17:7673839-7673843 |
lung | carcinoma; non_small_cell_carcinoma | Unknown |
c.799C>T; p.R267W; 17:7673821-7673821 |
thymus | thymoma | Substitution - Missense |
c.799C>T; p.R267W; 17:7673821-7673821 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.423C>A; p.C141*; 17:7675189-7675189 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.892_903del12; p.E298_P301delELPP; 17:7673717-7673728 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.423C>A; p.C141*; 17:7675189-7675189 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.571C>T; p.P191S; 17:7674960-7674960 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1036G>T; p.E346*; 17:7670673-7670673 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Nonsense |
c.499delC; p.Q167fs*3; 17:7675113-7675113 |
lung | carcinoma; small_cell_carcinoma | Deletion - Frameshift |
c.423C>A; p.C141*; 17:7675189-7675189 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.673-2A>G; p.?; 17:7674292-7674292 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.529_532delCCCC; p.P177fs*69; 17:7675080-7675083 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.448A>G; p.T150A; 17:7675164-7675164 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.748C>T; p.P250S; 17:7674215-7674215 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.423C>A; p.C141*; 17:7675189-7675189 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.756C>G; p.L252L; 17:7674207-7674207 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.104delT; p.L35fs*9; 17:7676265-7676265 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.694_708del15; p.I232_Y236delIHYNY; 17:7674255-7674269 |
lung | carcinoma; large_cell_carcinoma | Deletion - In frame |
c.748C>T; p.P250S; 17:7674215-7674215 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.799C>T; p.R267W; 17:7673821-7673821 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.799C>T; p.R267W; 17:7673821-7673821 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.1036G>T; p.E346*; 17:7670673-7670673 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Nonsense |
c.799C>T; p.R267W; 17:7673821-7673821 |
liver | carcinoma | Substitution - Missense |
c.826_827insNN; p.A276fs*70; 17:7673793-7673794 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.799C>T; p.R267W; 17:7673821-7673821 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; classic | Substitution - Missense |
c.423C>A; p.C141*; 17:7675189-7675189 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.799C>T; p.R267W; 17:7673821-7673821 |
skin | malignant_melanoma | Substitution - Missense |
c.919+2T>G; p.?; 17:7673699-7673699 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.844_845insC; p.R282fs*24; 17:7673775-7673776 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.673-2A>G; p.?; 17:7674292-7674292 |
breast | carcinoma | Unknown |
c.423C>A; p.C141*; 17:7675189-7675189 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.673-2A>G; p.?; 17:7674292-7674292 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.815_816delTG; p.V272fs*33; 17:7673804-7673805 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.799C>T; p.R267W; 17:7673821-7673821 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.799C>T; p.R267W; 17:7673821-7673821 |
stomach | adenocarcinoma | Substitution - Missense |
c.808T>A; p.F270I; 17:7673812-7673812 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.748C>T; p.P250S; 17:7674215-7674215 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.748C>T; p.P250S; 17:7674215-7674215 |
stomach | carcinoma | Substitution - Missense |
c.748C>T; p.P250S; 17:7674215-7674215 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.405_406ins18; p.C135_Q136insXXXXXX; 17:7675206-7675207 |
ovary | carcinoma; serous_carcinoma | Insertion - In frame |
c.634_635delTT; p.F212fs*3; 17:7674896-7674897 |
breast | carcinoma | Deletion - Frameshift |
c.634_635delTT; p.F212fs*3; 17:7674896-7674897 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.622_623GA>AT; p.D208I; 17:7674908-7674909 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.634_635delTT; p.F212fs*3; 17:7674896-7674897 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.808T>A; p.F270I; 17:7673812-7673812 |
breast | carcinoma | Substitution - Missense |
c.673-2A>G; p.?; 17:7674292-7674292 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.206C>T; p.A69V; 17:7676163-7676163 |
skin; leg | other; keratosis | Substitution - Missense |
c.673-2A>G; p.?; 17:7674292-7674292 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.808T>A; p.F270I; 17:7673812-7673812 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.673-2A>G; p.?; 17:7674292-7674292 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.586C>T; p.R196*; 17:7674945-7674945 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.800G>C; p.R267P; 17:7673820-7673820 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
skin | malignant_melanoma | Substitution - Nonsense |
c.814G>T; p.V272L; 17:7673806-7673806 |
breast | carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
breast | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
kidney | Wilms_tumour | Substitution - Nonsense |
c.814G>T; p.V272L; 17:7673806-7673806 |
pancreas | carcinoma | Substitution - Missense |
c.440T>A; p.V147D; 17:7675172-7675172 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.376T>A; p.Y126N; 17:7675236-7675236 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>G; p.R282G; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.440T>A; p.V147D; 17:7675172-7675172 |
breast | carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.800G>C; p.R267P; 17:7673820-7673820 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
oesophagus | carcinoma | Substitution - Nonsense |
c.844C>G; p.R282G; 17:7673776-7673776 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
ovary | other; neoplasm | Substitution - Nonsense |
c.560-2A>T; p.?; 17:7674973-7674973 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Unknown |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
breast | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.800G>C; p.R267P; 17:7673820-7673820 |
breast | carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
skin | malignant_melanoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.672+14C>T; p.?; 17:7674845-7674845 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.466C>A; p.R156S; 17:7675146-7675146 |
genital_tract; extragonadal | germ_cell_tumour; yolk_sac_tumour | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.800G>C; p.R267P; 17:7673820-7673820 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.800G>C; p.R267P; 17:7673820-7673820 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
lung | carcinoma | Substitution - Nonsense |
c.844C>G; p.R282G; 17:7673776-7673776 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.844C>G; p.R282G; 17:7673776-7673776 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.988delC; p.L330fs*15; 17:7673540-7673540 |
pancreas | carcinoma; acinar_carcinoma | Deletion - Frameshift |
c.586C>T; p.R196*; 17:7674945-7674945 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.844C>G; p.R282G; 17:7673776-7673776 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.814G>T; p.V272L; 17:7673806-7673806 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.800G>C; p.R267P; 17:7673820-7673820 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.337T>G; p.F113V; 17:7676032-7676032 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.814G>T; p.V272L; 17:7673806-7673806 |
ovary | carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.844C>G; p.R282G; 17:7673776-7673776 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.844C>G; p.R282G; 17:7673776-7673776 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.844C>G; p.R282G; 17:7673776-7673776 |
breast | carcinoma | Substitution - Missense |
c.814G>T; p.V272L; 17:7673806-7673806 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
breast | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
breast | carcinoma | Substitution - Nonsense |
c.376T>A; p.Y126N; 17:7675236-7675236 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
stomach | adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
pancreas | carcinoma | Substitution - Nonsense |
c.814G>T; p.V272L; 17:7673806-7673806 |
oesophagus | carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
oesophagus | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Nonsense |
c.800G>C; p.R267P; 17:7673820-7673820 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.844C>G; p.R282G; 17:7673776-7673776 |
breast | carcinoma | Substitution - Missense |
c.844C>G; p.R282G; 17:7673776-7673776 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.751_752delAT; p.I251fs*12; 17:7674211-7674212 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.586C>T; p.R196*; 17:7674945-7674945 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
oesophagus | carcinoma | Substitution - Nonsense |
c.732_745del14; p.G245fs*14; 17:7674218-7674231 |
pancreas | carcinoma | Deletion - Frameshift |
c.376T>A; p.Y126N; 17:7675236-7675236 |
breast | carcinoma | Substitution - Missense |
c.844C>G; p.R282G; 17:7673776-7673776 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
breast | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.736A>T; p.M246L; 17:7674227-7674227 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.806G>A; p.S269N; 17:7673814-7673814 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.799C>A; p.R267R; 17:7673821-7673821 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.586C>T; p.R196*; 17:7674945-7674945 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
breast | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.814G>T; p.V272L; 17:7673806-7673806 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.844C>G; p.R282G; 17:7673776-7673776 |
soft_tissue | sarcoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
ovary | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Nonsense |
c.844C>G; p.R282G; 17:7673776-7673776 |
breast | carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.814G>T; p.V272L; 17:7673806-7673806 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.560-2A>T; p.?; 17:7674973-7674973 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.586C>T; p.R196*; 17:7674945-7674945 |
breast | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.736A>T; p.M246L; 17:7674227-7674227 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Nonsense |
c.814G>T; p.V272L; 17:7673806-7673806 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.376T>A; p.Y126N; 17:7675236-7675236 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
pancreas | carcinoma | Substitution - Nonsense |
c.814G>T; p.V272L; 17:7673806-7673806 |
thyroid | carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.844C>G; p.R282G; 17:7673776-7673776 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
ovary | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Nonsense |
c.376T>A; p.Y126N; 17:7675236-7675236 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.814G>T; p.V272L; 17:7673806-7673806 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>G; p.R282G; 17:7673776-7673776 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
ovary | carcinoma | Substitution - Nonsense |
c.814G>T; p.V272L; 17:7673806-7673806 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.376T>A; p.Y126N; 17:7675236-7675236 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.814G>T; p.V272L; 17:7673806-7673806 |
oesophagus | other; dysplasia | Substitution - Missense |
c.844C>G; p.R282G; 17:7673776-7673776 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
skin | malignant_melanoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.440T>A; p.V147D; 17:7675172-7675172 |
breast | carcinoma | Substitution - Missense |
c.844C>G; p.R282G; 17:7673776-7673776 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.710_718delTGTGTAACA; p.M237_N239delMCN; 17:7674245-7674253 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.586C>T; p.R196*; 17:7674945-7674945 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.560-2A>T; p.?; 17:7674973-7674973 |
urinary_tract; bladder | carcinoma | Unknown |
c.586C>T; p.R196*; 17:7674945-7674945 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
breast | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
breast | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
skin | malignant_melanoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Nonsense |
c.560-2A>T; p.?; 17:7674973-7674973 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Unknown |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1022T>C; p.F341S; 17:7670687-7670687 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.806G>A; p.S269N; 17:7673814-7673814 |
haematopoietic_and_lymphoid_tissue; head_neck | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.466C>A; p.R156S; 17:7675146-7675146 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
stomach | adenocarcinoma | Substitution - Nonsense |
c.844C>G; p.R282G; 17:7673776-7673776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; MALT_lymphoma | Substitution - Nonsense |
c.844C>G; p.R282G; 17:7673776-7673776 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
skin | malignant_melanoma | Substitution - Nonsense |
c.734_735GC>TT; p.G245V; 17:7674228-7674229 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.508_514delACGGAGG; p.T170fs*2; 17:7675098-7675104 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.376T>A; p.Y126N; 17:7675236-7675236 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.337T>G; p.F113V; 17:7676032-7676032 |
breast | carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.814G>T; p.V272L; 17:7673806-7673806 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
skin | malignant_melanoma | Substitution - Nonsense |
c.844C>G; p.R282G; 17:7673776-7673776 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.828delC; p.C277fs*68; 17:7673792-7673792 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.814G>T; p.V272L; 17:7673806-7673806 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.337T>G; p.F113V; 17:7676032-7676032 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.736A>T; p.M246L; 17:7674227-7674227 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
stomach | adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.863delA; p.N288fs*57; 17:7673757-7673757 |
breast | carcinoma; HER-positive_carcinoma | Deletion - Frameshift |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.863delA; p.N288fs*57; 17:7673757-7673757 |
skin | carcinoma; basal_cell_carcinoma | Deletion - Frameshift |
c.586C>T; p.R196*; 17:7674945-7674945 |
stomach | adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
oesophagus | other; Barrett_oesophagus | Substitution - Nonsense |
c.844C>G; p.R282G; 17:7673776-7673776 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.844C>G; p.R282G; 17:7673776-7673776 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.844C>G; p.R282G; 17:7673776-7673776 |
oesophagus | carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
pancreas | carcinoid-endocrine_tumour | Substitution - Nonsense |
c.814G>T; p.V272L; 17:7673806-7673806 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.844C>G; p.R282G; 17:7673776-7673776 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.503_555del53; p.H168fs*23; 17:7675057-7675109 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.800G>C; p.R267P; 17:7673820-7673820 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
breast | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
ovary | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.337T>G; p.F113V; 17:7676032-7676032 |
upper_aerodigestive_tract; head_neck | carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.814G>T; p.V272L; 17:7673806-7673806 |
stomach | carcinoma | Substitution - Missense |
c.800G>C; p.R267P; 17:7673820-7673820 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.844C>G; p.R282G; 17:7673776-7673776 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>G; p.R282G; 17:7673776-7673776 |
stomach | carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
pancreas | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.557A>T; p.D186V; 17:7675055-7675055 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.800G>C; p.R267P; 17:7673820-7673820 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.814G>T; p.V272L; 17:7673806-7673806 |
oesophagus | carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
breast | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
breast | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.844C>G; p.R282G; 17:7673776-7673776 |
breast | carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
breast | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.521G>T; p.R174M; 17:7675091-7675091 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.800G>C; p.R267P; 17:7673820-7673820 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
breast | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Nonsense |
c.814G>T; p.V272L; 17:7673806-7673806 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
breast | carcinoma | Substitution - Nonsense |
c.814G>T; p.V272L; 17:7673806-7673806 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>G; p.R282G; 17:7673776-7673776 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
breast | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
pancreas | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
pancreas | carcinoma | Substitution - Nonsense |
c.521G>T; p.R174M; 17:7675091-7675091 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
breast | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
ovary | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
skin; trunk | carcinoma; basal_cell_carcinoma | Substitution - Nonsense |
c.844C>G; p.R282G; 17:7673776-7673776 |
breast | carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.466C>A; p.R156S; 17:7675146-7675146 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.844C>G; p.R282G; 17:7673776-7673776 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.337T>G; p.F113V; 17:7676032-7676032 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.800G>C; p.R267P; 17:7673820-7673820 |
ovary | carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
breast | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
breast | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.929_930insT; p.N311fs*26; 17:7673598-7673599 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.586C>T; p.R196*; 17:7674945-7674945 |
breast | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.376T>A; p.Y126N; 17:7675236-7675236 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
pancreas | carcinoma | Substitution - Nonsense |
c.844C>G; p.R282G; 17:7673776-7673776 |
breast | carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.337T>G; p.F113V; 17:7676032-7676032 |
ovary | other; neoplasm | Substitution - Missense |
c.1022T>C; p.F341S; 17:7670687-7670687 |
breast | carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.988delC; p.L330fs*15; 17:7673540-7673540 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.844C>G; p.R282G; 17:7673776-7673776 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.362_363delCT; p.S121fs*27; 17:7676006-7676007 |
breast | carcinoma | Deletion - Frameshift |
c.814G>T; p.V272L; 17:7673806-7673806 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.376T>A; p.Y126N; 17:7675236-7675236 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.814G>T; p.V272L; 17:7673806-7673806 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.814G>T; p.V272L; 17:7673806-7673806 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.800G>C; p.R267P; 17:7673820-7673820 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.844C>G; p.R282G; 17:7673776-7673776 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.814G>T; p.V272L; 17:7673806-7673806 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.800G>C; p.R267P; 17:7673820-7673820 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.800G>C; p.R267P; 17:7673820-7673820 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.800G>C; p.R267P; 17:7673820-7673820 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.800G>C; p.R267P; 17:7673820-7673820 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.800G>C; p.R267P; 17:7673820-7673820 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.806G>A; p.S269N; 17:7673814-7673814 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.844C>G; p.R282G; 17:7673776-7673776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.806G>A; p.S269N; 17:7673814-7673814 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia | Substitution - Missense |
c.800G>C; p.R267P; 17:7673820-7673820 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.800G>C; p.R267P; 17:7673820-7673820 |
upper_aerodigestive_tract; head_neck | carcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Nonsense |
c.736A>T; p.M246L; 17:7674227-7674227 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.586C>T; p.R196*; 17:7674945-7674945 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
ovary | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
breast | carcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.586C>T; p.R196*; 17:7674945-7674945 |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Nonsense |
c.918_919delAG; p.A307fs*29; 17:7673701-7673702 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.560-2A>T; p.?; 17:7674973-7674973 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.437G>A; p.W146*; 17:7675175-7675175 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.650T>A; p.V217E; 17:7674881-7674881 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.571delC; p.P191fs*56; 17:7674960-7674960 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - Frameshift |
c.313G>T; p.G105C; 17:7676056-7676056 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.437G>A; p.W146*; 17:7675175-7675175 |
breast | carcinoma | Substitution - Nonsense |
c.437G>A; p.W146*; 17:7675175-7675175 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.568_569CC>AA; p.P190N; 17:7674962-7674963 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.343_362del20; p.H115fs*27; 17:7676007-7676026 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.437G>A; p.W146*; 17:7675175-7675175 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.199C>T; p.P67S; 17:7676170-7676170 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.437G>A; p.W146*; 17:7675175-7675175 |
stomach | adenocarcinoma | Substitution - Nonsense |
c.175_374del200; p.G59fs*23; 17:7675995-7676194 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - Frameshift |
c.571delC; p.P191fs*56; 17:7674960-7674960 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - Frameshift |
c.437G>A; p.W146*; 17:7675175-7675175 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.817C>A; p.R273S; 17:7673803-7673803 |
salivary_gland; parotid | adenoma; pleomorphic | Substitution - Missense |
c.437G>A; p.W146*; 17:7675175-7675175 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.667_668insGAGCCGC; p.P223fs*4; 17:7674863-7674864 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.437G>A; p.W146*; 17:7675175-7675175 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.650T>A; p.V217E; 17:7674881-7674881 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.817C>A; p.R273S; 17:7673803-7673803 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.437G>A; p.W146*; 17:7675175-7675175 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Nonsense |
c.817C>A; p.R273S; 17:7673803-7673803 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.375+2T>C; p.?; 17:7675992-7675992 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.817C>A; p.R273S; 17:7673803-7673803 |
pancreas | carcinoid-endocrine_tumour; insulinoma | Substitution - Missense |
c.313G>T; p.G105C; 17:7676056-7676056 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.817C>A; p.R273S; 17:7673803-7673803 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.375+2T>C; p.?; 17:7675992-7675992 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.313G>T; p.G105C; 17:7676056-7676056 |
small_intestine; ileum | carcinoma; adenocarcinoma | Substitution - Missense |
c.437G>A; p.W146*; 17:7675175-7675175 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Nonsense |
c.817C>A; p.R273S; 17:7673803-7673803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.492_493GC>AT; p.Q165*; 17:7675119-7675120 |
oesophagus | other; Barrett_oesophagus | Substitution - Nonsense |
c.313G>T; p.G105C; 17:7676056-7676056 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.437G>A; p.W146*; 17:7675175-7675175 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.175_374del200; p.G59fs*23; 17:7675995-7676194 |
upper_aerodigestive_tract; head_neck | carcinoma | Deletion - Frameshift |
c.437G>A; p.W146*; 17:7675175-7675175 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Nonsense |
c.817C>A; p.R273S; 17:7673803-7673803 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.437G>A; p.W146*; 17:7675175-7675175 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.437G>A; p.W146*; 17:7675175-7675175 |
pancreas | carcinoma | Substitution - Nonsense |
c.817C>A; p.R273S; 17:7673803-7673803 |
ovary | carcinoma | Substitution - Missense |
c.650T>A; p.V217E; 17:7674881-7674881 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.437G>A; p.W146*; 17:7675175-7675175 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.437G>A; p.W146*; 17:7675175-7675175 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.437G>A; p.W146*; 17:7675175-7675175 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.437G>A; p.W146*; 17:7675175-7675175 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Nonsense |
c.437G>A; p.W146*; 17:7675175-7675175 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.880G>C; p.E294Q; 17:7673740-7673740 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.313G>T; p.G105C; 17:7676056-7676056 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.437G>A; p.W146*; 17:7675175-7675175 |
liver | carcinoma | Substitution - Nonsense |
c.315C>T; p.G105G; 17:7676054-7676054 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.437G>A; p.W146*; 17:7675175-7675175 |
oesophagus | carcinoma | Substitution - Nonsense |
c.437G>A; p.W146*; 17:7675175-7675175 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.437G>A; p.W146*; 17:7675175-7675175 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.437G>A; p.W146*; 17:7675175-7675175 |
pancreas | carcinoma | Substitution - Nonsense |
c.320A>G; p.Y107C; 17:7676049-7676049 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.313G>T; p.G105C; 17:7676056-7676056 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.437G>A; p.W146*; 17:7675175-7675175 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.437G>A; p.W146*; 17:7675175-7675175 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.817C>A; p.R273S; 17:7673803-7673803 |
ovary | carcinoma | Substitution - Missense |
c.437G>A; p.W146*; 17:7675175-7675175 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.437G>A; p.W146*; 17:7675175-7675175 |
prostate | carcinoma | Substitution - Nonsense |
c.880G>C; p.E294Q; 17:7673740-7673740 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.375+2T>C; p.?; 17:7675992-7675992 |
skin | malignant_melanoma | Unknown |
c.437G>A; p.W146*; 17:7675175-7675175 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.817C>A; p.R273S; 17:7673803-7673803 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.437G>A; p.W146*; 17:7675175-7675175 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.437G>A; p.W146*; 17:7675175-7675175 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm | Substitution - Nonsense |
c.437G>A; p.W146*; 17:7675175-7675175 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.817C>A; p.R273S; 17:7673803-7673803 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.199C>T; p.P67S; 17:7676170-7676170 |
prostate | carcinoma | Substitution - Missense |
c.933_934insN; p.T312fs*25; 17:7673594-7673595 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.320A>G; p.Y107C; 17:7676049-7676049 |
breast | carcinoma | Substitution - Missense |
c.672+24T>A; p.?; 17:7674835-7674835 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Unknown |
c.437G>A; p.W146*; 17:7675175-7675175 |
ovary | other; neoplasm | Substitution - Nonsense |
c.162_163ins22; p.T55fs*9; 17:7676206-7676207 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.1014_1017delCGAG; p.F338fs*6; 17:7670692-7670695 |
pancreas | NS | Deletion - Frameshift |
c.817C>A; p.R273S; 17:7673803-7673803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817C>A; p.R273S; 17:7673803-7673803 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.437G>A; p.W146*; 17:7675175-7675175 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.817C>A; p.R273S; 17:7673803-7673803 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.437G>A; p.W146*; 17:7675175-7675175 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Nonsense |
c.817C>A; p.R273S; 17:7673803-7673803 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.782+31G>A; p.?; 17:7674150-7674150 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Unknown |
c.175_374del200; p.G59fs*23; 17:7675995-7676194 |
upper_aerodigestive_tract; head_neck | carcinoma | Deletion - Frameshift |
c.437G>A; p.W146*; 17:7675175-7675175 |
ovary | other; neoplasm | Substitution - Nonsense |
c.782+31G>A; p.?; 17:7674150-7674150 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Unknown |
c.437G>A; p.W146*; 17:7675175-7675175 |
skin | other; keratoacanthoma | Substitution - Nonsense |
c.781A>C; p.S261R; 17:7674182-7674182 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.437G>A; p.W146*; 17:7675175-7675175 |
pancreas | carcinoma | Substitution - Nonsense |
c.767delC; p.T256fs*89; 17:7674196-7674196 |
central_nervous_system; occipital_lobe | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.437G>A; p.W146*; 17:7675175-7675175 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.437G>A; p.W146*; 17:7675175-7675175 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.651G>A; p.V217V; 17:7674880-7674880 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.571delC; p.P191fs*56; 17:7674960-7674960 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.437G>A; p.W146*; 17:7675175-7675175 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Nonsense |
c.437G>A; p.W146*; 17:7675175-7675175 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Nonsense |
c.437G>A; p.W146*; 17:7675175-7675175 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.437G>A; p.W146*; 17:7675175-7675175 |
large_intestine; appendix | carcinoid-endocrine_tumour | Substitution - Nonsense |
c.313G>T; p.G105C; 17:7676056-7676056 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.199C>T; p.P67S; 17:7676170-7676170 |
central_nervous_system; brain | glioma; astrocytoma_Grade_I | Substitution - Missense |
c.437G>A; p.W146*; 17:7675175-7675175 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Nonsense |
c.437G>A; p.W146*; 17:7675175-7675175 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.782+31G>A; p.?; 17:7674150-7674150 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Unknown |
c.437G>A; p.W146*; 17:7675175-7675175 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Nonsense |
c.375+2T>C; p.?; 17:7675992-7675992 |
skin; face | carcinoma; basal_cell_carcinoma | Unknown |
c.455_456insN; p.P153fs*28; 17:7675156-7675157 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.388C>T; p.L130F; 17:7675224-7675224 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.424C>A; p.P142T; 17:7675188-7675188 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.455_456insN; p.P153fs*28; 17:7675156-7675157 |
prostate | carcinoma | Insertion - Frameshift |
c.548C>G; p.S183*; 17:7675064-7675064 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.548C>G; p.S183*; 17:7675064-7675064 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.388C>T; p.L130F; 17:7675224-7675224 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.388C>T; p.L130F; 17:7675224-7675224 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.388C>T; p.L130F; 17:7675224-7675224 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.714_715insT; p.N239fs*1; 17:7674248-7674249 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.217G>C; p.V73L; 17:7676152-7676152 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.772_773insNNN; p.E258>XX; 17:7674190-7674191 |
large_intestine; colon | carcinoma; adenocarcinoma | Complex - insertion inframe |
c.555C>A; p.S185R; 17:7675057-7675057 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.834_835insN; p.G279fs*27; 17:7673785-7673786 |
skin | carcinoma; basal_cell_carcinoma | Insertion - Frameshift |
c.884C>T; p.P295L; 17:7673736-7673736 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.548C>G; p.S183*; 17:7675064-7675064 |
breast | carcinoma | Substitution - Nonsense |
c.277delC; p.L93fs*30; 17:7676092-7676092 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Deletion - Frameshift |
c.555C>A; p.S185R; 17:7675057-7675057 |
oesophagus | carcinoma | Substitution - Missense |
c.548C>G; p.S183*; 17:7675064-7675064 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.511G>C; p.E171Q; 17:7675101-7675101 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.548C>G; p.S183*; 17:7675064-7675064 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Nonsense |
c.548C>G; p.S183*; 17:7675064-7675064 |
ovary | other; neoplasm | Substitution - Nonsense |
c.548C>G; p.S183*; 17:7675064-7675064 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Nonsense |
c.559_575del17; p.G187fs*16; 17:7674956-7675053 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.388C>T; p.L130F; 17:7675224-7675224 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.728T>A; p.M243K; 17:7674235-7674235 |
prostate | carcinoma | Substitution - Missense |
c.548C>G; p.S183*; 17:7675064-7675064 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.388C>T; p.L130F; 17:7675224-7675224 |
pancreas | carcinoma | Substitution - Missense |
c.548C>G; p.S183*; 17:7675064-7675064 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Nonsense |
c.446_447delCC; p.S149fs*31; 17:7675165-7675166 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Deletion - Frameshift |
c.548C>G; p.S183*; 17:7675064-7675064 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - Nonsense |
c.714_715insT; p.N239fs*1; 17:7674248-7674249 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.548C>G; p.S183*; 17:7675064-7675064 |
breast | carcinoma | Substitution - Nonsense |
c.714_715insT; p.N239fs*1; 17:7674248-7674249 |
breast | carcinoma | Insertion - Frameshift |
c.559_575del17; p.G187fs*16; 17:7674956-7675053 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.677G>T; p.G226V; 17:7674286-7674286 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.388C>T; p.L130F; 17:7675224-7675224 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.548C>G; p.S183*; 17:7675064-7675064 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Nonsense |
c.677G>T; p.G226V; 17:7674286-7674286 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.487_505del19; p.Y163fs*1; 17:7675107-7675125 |
breast | carcinoma | Deletion - Frameshift |
c.555C>A; p.S185R; 17:7675057-7675057 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.570_571insNN; p.P191fs*57; 17:7674960-7674961 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.424C>A; p.P142T; 17:7675188-7675188 |
breast | carcinoma | Substitution - Missense |
c.912T>G; p.T304T; 17:7673708-7673708 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.548C>G; p.S183*; 17:7675064-7675064 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.548C>G; p.S183*; 17:7675064-7675064 |
pancreas | carcinoma | Substitution - Nonsense |
c.388C>T; p.L130F; 17:7675224-7675224 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.728T>A; p.M243K; 17:7674235-7674235 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.548C>G; p.S183*; 17:7675064-7675064 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.388C>T; p.L130F; 17:7675224-7675224 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.511G>C; p.E171Q; 17:7675101-7675101 |
skin; head_neck | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.217G>C; p.V73L; 17:7676152-7676152 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.548C>G; p.S183*; 17:7675064-7675064 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.884C>T; p.P295L; 17:7673736-7673736 |
placenta | hydatiform_mole | Substitution - Missense |
c.511G>C; p.E171Q; 17:7675101-7675101 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.466_469CGCG>TCC; p.R156fs*14; 17:7675143-7675146 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Complex - frameshift |
c.388C>T; p.L130F; 17:7675224-7675224 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.548C>G; p.S183*; 17:7675064-7675064 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.404_405insNNNN; p.C135fs*15; 17:7675207-7675208 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.436T>A; p.W146R; 17:7675176-7675176 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.714_715insT; p.N239fs*1; 17:7674248-7674249 |
breast | carcinoma | Insertion - Frameshift |
c.859_863delGAGAA; p.E287fs*17; 17:7673757-7673761 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.388C>T; p.L130F; 17:7675224-7675224 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.548C>G; p.S183*; 17:7675064-7675064 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.388C>T; p.L130F; 17:7675224-7675224 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.677G>T; p.G226V; 17:7674286-7674286 |
breast | carcinoma | Substitution - Missense |
c.388C>T; p.L130F; 17:7675224-7675224 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.548C>G; p.S183*; 17:7675064-7675064 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.511G>C; p.E171Q; 17:7675101-7675101 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.548C>G; p.S183*; 17:7675064-7675064 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Nonsense |
c.548C>G; p.S183*; 17:7675064-7675064 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.884C>T; p.P295L; 17:7673736-7673736 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.548C>G; p.S183*; 17:7675064-7675064 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Nonsense |
c.388C>T; p.L130F; 17:7675224-7675224 |
prostate | carcinoma | Substitution - Missense |
c.629A>T; p.N210I; 17:7674902-7674902 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.834_835insN; p.G279fs*27; 17:7673785-7673786 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.151delG; p.E51fs*72; 17:7676218-7676218 |
ovary | other; neoplasm | Deletion - Frameshift |
c.548C>G; p.S183*; 17:7675064-7675064 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.714_715insT; p.N239fs*1; 17:7674248-7674249 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.677G>T; p.G226V; 17:7674286-7674286 |
cervix | carcinoma; adenocarcinoma | Substitution - Missense |
c.884C>T; p.P295L; 17:7673736-7673736 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.235_264del30; p.A79_A88del10; 17:7676105-7676134 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Deletion - In frame |
c.548C>G; p.S183*; 17:7675064-7675064 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.239C>T; p.P80L; 17:7676130-7676130 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.782+37T>A; p.?; 17:7674144-7674144 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Unknown |
c.548C>G; p.S183*; 17:7675064-7675064 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.455_456insN; p.P153fs*28; 17:7675156-7675157 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Insertion - Frameshift |
c.555C>A; p.S185R; 17:7675057-7675057 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.548C>G; p.S183*; 17:7675064-7675064 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1010G>A; p.R337H; 17:7670699-7670699 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
oesophagus | carcinoma | Substitution - Missense |
c.592_593insG; p.E198fs*11; 17:7674938-7674939 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.701A>G; p.Y234C; 17:7674262-7674262 |
ovary | carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
central_nervous_system; brain | glioma; oligoastrocytoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
breast | carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
ovary | carcinoma | Substitution - Missense |
c.332T>G; p.L111R; 17:7676037-7676037 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.937A>G; p.S313G; 17:7673591-7673591 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Missense |
c.1010G>A; p.R337H; 17:7670699-7670699 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.753_754insN; p.L252fs*12; 17:7674209-7674210 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.455C>T; p.P152L; 17:7675157-7675157 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
urinary_tract; bladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.378C>A; p.Y126*; 17:7675234-7675234 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.455C>T; p.P152L; 17:7675157-7675157 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.848G>C; p.R283P; 17:7673772-7673772 |
central_nervous_system; brain | glioma; oligoastrocytoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
pancreas | carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
urinary_tract; bladder | papilloma; typical | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.499_500delCA; p.Q167fs*13; 17:7675112-7675113 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.404G>A; p.C135Y; 17:7675208-7675208 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
breast | carcinoma | Substitution - Missense |
c.411G>A; p.L137L; 17:7675201-7675201 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - coding silent |
c.455C>T; p.P152L; 17:7675157-7675157 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.848G>C; p.R283P; 17:7673772-7673772 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
breast | carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
breast | carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.479T>A; p.M160K; 17:7675133-7675133 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.848G>C; p.R283P; 17:7673772-7673772 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.848G>C; p.R283P; 17:7673772-7673772 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.715_727del13; p.N239fs*4; 17:7674236-7674248 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.404G>A; p.C135Y; 17:7675208-7675208 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.378C>A; p.Y126*; 17:7675234-7675234 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.75_96del22; p.L26fs*11; 17:7676382-7676403 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.723_724insNNN; p.S241_C242insX; 17:7674239-7674240 |
large_intestine | carcinoma; adenocarcinoma | Insertion - In frame |
c.872A>C; p.K291T; 17:7673748-7673748 |
prostate | in_situ_neoplasm; glandular_intraepithelial_neoplasia_Grade_III | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.173delC; p.P58fs*65; 17:7676196-7676196 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.1066delG; p.K357fs*13; 17:7670643-7670643 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.456G>A; p.P152P; 17:7675156-7675156 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.701A>G; p.Y234C; 17:7674262-7674262 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.173delC; p.P58fs*65; 17:7676196-7676196 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.701A>G; p.Y234C; 17:7674262-7674262 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.481G>C; p.A161P; 17:7675131-7675131 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.499_500delCA; p.Q167fs*13; 17:7675112-7675113 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.456G>A; p.P152P; 17:7675156-7675156 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - coding silent |
c.701A>G; p.Y234C; 17:7674262-7674262 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.848G>C; p.R283P; 17:7673772-7673772 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.848G>C; p.R283P; 17:7673772-7673772 |
oesophagus | carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
breast | carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
breast | carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.619G>T; p.D207Y; 17:7674912-7674912 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.332T>G; p.L111R; 17:7676037-7676037 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
ovary | carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
skin | malignant_melanoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
oesophagus | other; hyperplasia | Substitution - Missense |
c.848G>C; p.R283P; 17:7673772-7673772 |
breast | carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Missense |
c.719G>T; p.S240I; 17:7674244-7674244 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1044G>A; p.L348L; 17:7670665-7670665 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.848G>C; p.R283P; 17:7673772-7673772 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
breast | carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
central_nervous_system; brain | glioma; oligoastrocytoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
liver | carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
oesophagus | carcinoma | Substitution - Missense |
c.332T>G; p.L111R; 17:7676037-7676037 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.848G>C; p.R283P; 17:7673772-7673772 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
stomach | carcinoma | Substitution - Missense |
c.332T>G; p.L111R; 17:7676037-7676037 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.378C>A; p.Y126*; 17:7675234-7675234 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.455C>T; p.P152L; 17:7675157-7675157 |
prostate | carcinoma | Substitution - Missense |
c.949_950insC; p.Q317fs*20; 17:7673578-7673579 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.404G>A; p.C135Y; 17:7675208-7675208 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.649_672+21del45; p.?; 17:7674838-7674882 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.455C>T; p.P152L; 17:7675157-7675157 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
breast | other; neoplasm | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
ovary | carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
breast | carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
prostate | carcinoma | Substitution - Missense |
c.479T>A; p.M160K; 17:7675133-7675133 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.378C>A; p.Y126*; 17:7675234-7675234 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
breast | carcinoma | Substitution - Missense |
c.1010G>A; p.R337H; 17:7670699-7670699 |
liver | carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.411G>A; p.L137L; 17:7675201-7675201 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - coding silent |
c.268T>A; p.S90T; 17:7676101-7676101 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.719G>T; p.S240I; 17:7674244-7674244 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.340T>C; p.L114L; 17:7676029-7676029 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.701A>G; p.Y234C; 17:7674262-7674262 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
ovary | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.848G>C; p.R283P; 17:7673772-7673772 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
ovary | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.479T>A; p.M160K; 17:7675133-7675133 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
ovary | carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.719G>T; p.S240I; 17:7674244-7674244 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
breast | carcinoma | Substitution - Missense |
c.332T>G; p.L111R; 17:7676037-7676037 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
liver | carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
ovary | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.848G>C; p.R283P; 17:7673772-7673772 |
breast | carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
breast | carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
central_nervous_system; brainstem | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
prostate | adenoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
breast | carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.609G>A; p.V203V; 17:7674922-7674922 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.701A>G; p.Y234C; 17:7674262-7674262 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.472_473delCG; p.A159fs*21; 17:7675139-7675140 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.404G>A; p.C135Y; 17:7675208-7675208 |
ovary | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.332T>G; p.L111R; 17:7676037-7676037 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.898_899insC; p.G302fs*4; 17:7673721-7673722 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Insertion - Frameshift |
c.411G>A; p.L137L; 17:7675201-7675201 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.456G>A; p.P152P; 17:7675156-7675156 |
breast | carcinoma | Substitution - coding silent |
c.701A>G; p.Y234C; 17:7674262-7674262 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
ovary | carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.456G>A; p.P152P; 17:7675156-7675156 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.609G>A; p.V203V; 17:7674922-7674922 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.404G>A; p.C135Y; 17:7675208-7675208 |
breast | carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
central_nervous_system; frontal_lobe | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010G>A; p.R337H; 17:7670699-7670699 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.848G>C; p.R283P; 17:7673772-7673772 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
breast | carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
ovary | other; neoplasm | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1010G>A; p.R337H; 17:7670699-7670699 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; non_functioning | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
soft_tissue; smooth_muscle | leiomyosarcoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
ovary | carcinoma | Substitution - Missense |
c.457_458CC>TT; p.P153F; 17:7675154-7675155 |
eye; conjunctiva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.332T>G; p.L111R; 17:7676037-7676037 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.872A>C; p.K291T; 17:7673748-7673748 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.848G>C; p.R283P; 17:7673772-7673772 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
ovary | carcinoma; mucinous_carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.848G>C; p.R283P; 17:7673772-7673772 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
prostate | carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.378C>A; p.Y126*; 17:7675234-7675234 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
prostate | carcinoma | Substitution - Missense |
c.1010G>A; p.R337H; 17:7670699-7670699 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.719G>T; p.S240I; 17:7674244-7674244 |
breast | carcinoma | Substitution - Missense |
c.499_500delCA; p.Q167fs*13; 17:7675112-7675113 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.701A>G; p.Y234C; 17:7674262-7674262 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
breast | carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.719G>T; p.S240I; 17:7674244-7674244 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.848G>C; p.R283P; 17:7673772-7673772 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.848G>C; p.R283P; 17:7673772-7673772 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.731delG; p.G244fs*3; 17:7674232-7674232 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.701A>G; p.Y234C; 17:7674262-7674262 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.479T>A; p.M160K; 17:7675133-7675133 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.324_328delTTTCC; p.F109fs*38; 17:7676041-7676045 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Deletion - Frameshift |
c.455C>T; p.P152L; 17:7675157-7675157 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1010G>A; p.R337H; 17:7670699-7670699 |
liver | carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.179delC; p.P60fs*63; 17:7676190-7676190 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.701A>G; p.Y234C; 17:7674262-7674262 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.332T>G; p.L111R; 17:7676037-7676037 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.848G>C; p.R283P; 17:7673772-7673772 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1010G>A; p.R337H; 17:7670699-7670699 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
cervix | carcinoma; adenocarcinoma | Substitution - Missense |
c.719G>T; p.S240I; 17:7674244-7674244 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.848G>C; p.R283P; 17:7673772-7673772 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.667delC; p.P223fs*24; 17:7674864-7674864 |
skin; arm | in_situ_epithelial_neoplasm; actinic_keratosis | Deletion - Frameshift |
c.455C>T; p.P152L; 17:7675157-7675157 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.872A>C; p.K291T; 17:7673748-7673748 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
pancreas | carcinoma | Substitution - Missense |
c.848G>C; p.R283P; 17:7673772-7673772 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
breast | carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.848G>C; p.R283P; 17:7673772-7673772 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
breast | carcinoma | Substitution - Missense |
c.332T>G; p.L111R; 17:7676037-7676037 |
liver | carcinoma | Substitution - Missense |
c.848G>C; p.R283P; 17:7673772-7673772 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.848G>C; p.R283P; 17:7673772-7673772 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.848G>C; p.R283P; 17:7673772-7673772 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.701A>G; p.Y234C; 17:7674262-7674262 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
oesophagus | carcinoma | Substitution - Missense |
c.332T>G; p.L111R; 17:7676037-7676037 |
liver | carcinoma | Substitution - Missense |
c.848G>C; p.R283P; 17:7673772-7673772 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.455C>T; p.P152L; 17:7675157-7675157 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.404G>A; p.C135Y; 17:7675208-7675208 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.879G>A; p.G293G; 17:7673741-7673741 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.725_736del12; p.C242_M246>L; 17:7674227-7674238 |
breast | carcinoma | Complex - deletion inframe |
c.879G>A; p.G293G; 17:7673741-7673741 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.536A>T; p.H179L; 17:7675076-7675076 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.720T>A; p.S240R; 17:7674243-7674243 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
breast | carcinoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
lung | carcinoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
central_nervous_system; temporal_lobe | glioma; ependymoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.500delA; p.Q167fs*3; 17:7675112-7675112 |
breast | carcinoma | Deletion - Frameshift |
c.341_354del14; p.L114fs*30; 17:7676015-7676028 |
breast | carcinoma | Deletion - Frameshift |
c.406delC; p.Q136fs*34; 17:7675206-7675206 |
stomach | carcinoma; diffuse_adenocarcinoma | Deletion - Frameshift |
c.882G>T; p.E294D; 17:7673738-7673738 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.720T>A; p.S240R; 17:7674243-7674243 |
stomach | carcinoma | Substitution - Missense |
c.351_352insNN; p.T118fs*6; 17:7676017-7676018 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Insertion - Frameshift |
c.536A>T; p.H179L; 17:7675076-7675076 |
breast | carcinoma | Substitution - Missense |
c.870delC; p.K291fs*54; 17:7673750-7673750 |
large_intestine | adenoma | Deletion - Frameshift |
c.490_493delAAGC; p.K164fs*5; 17:7675119-7675122 |
central_nervous_system; brain | glioma; astrocytoma | Deletion - Frameshift |
c.536A>T; p.H179L; 17:7675076-7675076 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.402T>G; p.F134L; 17:7675210-7675210 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.720T>A; p.S240R; 17:7674243-7674243 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.879G>A; p.G293G; 17:7673741-7673741 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.468_469insN; p.V157fs*24; 17:7675143-7675144 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.536A>T; p.H179L; 17:7675076-7675076 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.445_446delTC; p.S149fs*31; 17:7675166-7675167 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.402T>G; p.F134L; 17:7675210-7675210 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.469_486del18; p.V157_I162delVRAMAI; 17:7675126-7675143 |
breast | carcinoma | Deletion - In frame |
c.536A>T; p.H179L; 17:7675076-7675076 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
salivary_gland; parotid | adenoma; myoepithelial | Substitution - Missense |
c.983T>C; p.F328S; 17:7673545-7673545 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.882G>T; p.E294D; 17:7673738-7673738 |
soft_tissue; fibrous_tissue_and_uncertain_o | inflammatory_myofibroblastic_tumour | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.669_670insN; p.E224fs*5; 17:7674861-7674862 |
stomach | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.468_469insN; p.V157fs*24; 17:7675143-7675144 |
breast | carcinoma | Insertion - Frameshift |
c.536A>T; p.H179L; 17:7675076-7675076 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
upper_aerodigestive_tract; head_neck | carcinoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
breast | carcinoma | Substitution - Missense |
c.507_508insNNN; p.M169_T170insX; 17:7675104-7675105 |
lung | carcinoma; non_small_cell_carcinoma | Insertion - In frame |
c.835_836delGG; p.G279fs*26; 17:7673784-7673785 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.406delC; p.Q136fs*34; 17:7675206-7675206 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.886delC; p.H296fs*49; 17:7673734-7673734 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.516T>C; p.V172V; 17:7675096-7675096 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Substitution - coding silent |
c.536A>T; p.H179L; 17:7675076-7675076 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.772_773GA>TT; p.E258L; 17:7674190-7674191 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1049_1059del11; p.L350fs*28; 17:7670650-7670660 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.409delC; p.L137fs*33; 17:7675203-7675203 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.536A>T; p.H179L; 17:7675076-7675076 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.725_736del12; p.C242_M246>L; 17:7674227-7674238 |
bone; femur | chondrosarcoma | Complex - deletion inframe |
c.376-2delA; p.?; 17:7675238-7675238 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Unknown |
c.536A>T; p.H179L; 17:7675076-7675076 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.879G>A; p.G293G; 17:7673741-7673741 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - coding silent |
c.536A>T; p.H179L; 17:7675076-7675076 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.416_417insN; p.K139fs*10; 17:7675195-7675196 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.536A>T; p.H179L; 17:7675076-7675076 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
upper_aerodigestive_tract; pharynx | carcinoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.633_634insNNN; p.T211_F212insX; 17:7674897-7674898 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - In frame |
c.720T>A; p.S240R; 17:7674243-7674243 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.508A>G; p.T170A; 17:7675104-7675104 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.516T>C; p.V172V; 17:7675096-7675096 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.536A>T; p.H179L; 17:7675076-7675076 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.886delC; p.H296fs*49; 17:7673734-7673734 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.673_674ins69; p.V225>24; 17:7674289-7674290 |
breast | carcinoma | Complex - insertion inframe |
c.536A>T; p.H179L; 17:7675076-7675076 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.393delC; p.N131fs*39; 17:7675219-7675219 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.536A>T; p.H179L; 17:7675076-7675076 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.700_701TA>CG; p.Y234R; 17:7674262-7674263 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.536A>T; p.H179L; 17:7675076-7675076 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.857A>G; p.E286G; 17:7673763-7673763 |
stomach | adenoma | Substitution - Missense |
c.550G>T; p.D184Y; 17:7675062-7675062 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.332T>C; p.L111P; 17:7676037-7676037 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.332T>C; p.L111P; 17:7676037-7676037 |
breast | carcinoma | Substitution - Missense |
c.935C>T; p.T312I; 17:7673593-7673593 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.434T>C; p.L145P; 17:7675178-7675178 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.965C>T; p.P322L; 17:7673563-7673563 |
skin; arm | other; keratosis | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.857A>G; p.E286G; 17:7673763-7673763 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.640C>G; p.H214D; 17:7674891-7674891 |
bone; pelvis | chondrosarcoma | Substitution - Missense |
c.857A>G; p.E286G; 17:7673763-7673763 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.720_721delTT; p.S241fs*22; 17:7674242-7674243 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.818G>C; p.R273P; 17:7673802-7673802 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.685T>C; p.C229R; 17:7674278-7674278 |
breast | carcinoma | Substitution - Missense |
c.375+1G>T; p.?; 17:7675993-7675993 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.811G>C; p.E271Q; 17:7673809-7673809 |
breast | carcinoma | Substitution - Missense |
c.434T>C; p.L145P; 17:7675178-7675178 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
oesophagus | carcinoma | Substitution - Missense |
c.857A>G; p.E286G; 17:7673763-7673763 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.434T>C; p.L145P; 17:7675178-7675178 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.857A>G; p.E286G; 17:7673763-7673763 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.434T>C; p.L145P; 17:7675178-7675178 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.965C>T; p.P322L; 17:7673563-7673563 |
peritoneum | carcinoma; peritoneal_serous_surface_carcinoma | Substitution - Missense |
c.434T>C; p.L145P; 17:7675178-7675178 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.580C>A; p.L194I; 17:7674951-7674951 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.857A>G; p.E286G; 17:7673763-7673763 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.857A>G; p.E286G; 17:7673763-7673763 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.640C>G; p.H214D; 17:7674891-7674891 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.445delT; p.S149fs*21; 17:7675167-7675167 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.434T>C; p.L145P; 17:7675178-7675178 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.431_433delAGC; p.Q144delQ; 17:7675179-7675181 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - In frame |
c.374C>A; p.T125K; 17:7675995-7675995 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.920-21C>T; p.?; 17:7673629-7673629 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.375+1G>T; p.?; 17:7675993-7675993 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Unknown |
c.434T>C; p.L145P; 17:7675178-7675178 |
ovary | carcinoma | Substitution - Missense |
c.332T>C; p.L111P; 17:7676037-7676037 |
breast | other; neoplasm | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.857A>G; p.E286G; 17:7673763-7673763 |
ovary | carcinoma | Substitution - Missense |
c.434T>C; p.L145P; 17:7675178-7675178 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.375+1G>T; p.?; 17:7675993-7675993 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.434T>C; p.L145P; 17:7675178-7675178 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.374C>A; p.T125K; 17:7675995-7675995 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.362delC; p.S121fs*2; 17:7676007-7676007 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.332T>C; p.L111P; 17:7676037-7676037 |
oesophagus | carcinoma | Substitution - Missense |
c.857A>G; p.E286G; 17:7673763-7673763 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.857A>G; p.E286G; 17:7673763-7673763 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.857A>G; p.E286G; 17:7673763-7673763 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.661delG; p.E221fs*26; 17:7674870-7674870 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.685T>C; p.C229R; 17:7674278-7674278 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.434T>C; p.L145P; 17:7675178-7675178 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.857A>G; p.E286G; 17:7673763-7673763 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.375+1G>T; p.?; 17:7675993-7675993 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.818G>C; p.R273P; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.357delC; p.K120fs*3; 17:7676012-7676012 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.780_781insNNNN; p.S261fs*4; 17:7674182-7674183 |
stomach | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.811G>C; p.E271Q; 17:7673809-7673809 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.434T>C; p.L145P; 17:7675178-7675178 |
breast | carcinoma | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.332T>C; p.L111P; 17:7676037-7676037 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.811G>C; p.E271Q; 17:7673809-7673809 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.332T>C; p.L111P; 17:7676037-7676037 |
breast | carcinoma | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.445delT; p.S149fs*21; 17:7675167-7675167 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Deletion - Frameshift |
c.857A>G; p.E286G; 17:7673763-7673763 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.857A>G; p.E286G; 17:7673763-7673763 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.374C>A; p.T125K; 17:7675995-7675995 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.375+1G>T; p.?; 17:7675993-7675993 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.434T>C; p.L145P; 17:7675178-7675178 |
ovary | carcinoma; mucinous_carcinoma | Substitution - Missense |
c.456_457insC; p.G154fs*27; 17:7675155-7675156 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.818G>C; p.R273P; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.332T>C; p.L111P; 17:7676037-7676037 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.550G>T; p.D184Y; 17:7675062-7675062 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.550G>T; p.D184Y; 17:7675062-7675062 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.811G>C; p.E271Q; 17:7673809-7673809 |
breast | carcinoma | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.640C>G; p.H214D; 17:7674891-7674891 |
thyroid | adenoma-nodule-goitre | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.380_381CC>TT; p.S127F; 17:7675231-7675232 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.434T>C; p.L145P; 17:7675178-7675178 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.857A>G; p.E286G; 17:7673763-7673763 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.857A>G; p.E286G; 17:7673763-7673763 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.857A>G; p.E286G; 17:7673763-7673763 |
breast | carcinoma | Substitution - Missense |
c.374C>A; p.T125K; 17:7675995-7675995 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.948_949CC>TT; p.Q317*; 17:7673579-7673580 |
skin; leg | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.380_381CC>TT; p.S127F; 17:7675231-7675232 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.442_465del24; p.D148_T155delDSTPPPGT; 17:7675147-7675170 |
skin; face | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.332T>C; p.L111P; 17:7676037-7676037 |
breast | carcinoma | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
central_nervous_system; cerebellum | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.718_720AGT>CCC; p.S240P; 17:7674243-7674245 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.434T>C; p.L145P; 17:7675178-7675178 |
prostate | carcinoma | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.375+1G>T; p.?; 17:7675993-7675993 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.818G>C; p.R273P; 17:7673802-7673802 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.550G>T; p.D184Y; 17:7675062-7675062 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.434T>C; p.L145P; 17:7675178-7675178 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.526_535del10; p.C176fs*68; 17:7675077-7675086 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.640C>G; p.H214D; 17:7674891-7674891 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.375+1G>T; p.?; 17:7675993-7675993 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.818G>C; p.R273P; 17:7673802-7673802 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.434T>C; p.L145P; 17:7675178-7675178 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.375+1G>T; p.?; 17:7675993-7675993 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.818G>C; p.R273P; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.464_465insN; p.R156fs*25; 17:7675147-7675148 |
upper_aerodigestive_tract; larynx | carcinoma | Insertion - Frameshift |
c.818G>C; p.R273P; 17:7673802-7673802 |
breast | carcinoma | Substitution - Missense |
c.857A>G; p.E286G; 17:7673763-7673763 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.857A>G; p.E286G; 17:7673763-7673763 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.945_946delTC; p.Q317fs*19; 17:7673582-7673583 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.423_424insNNNNNN; p.C141_P142insXX; 17:7675188-7675189 |
large_intestine | carcinoma; adenocarcinoma | Insertion - In frame |
c.818G>C; p.R273P; 17:7673802-7673802 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.332T>C; p.L111P; 17:7676037-7676037 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.434T>C; p.L145P; 17:7675178-7675178 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Missense |
c.818G>C; p.R273P; 17:7673802-7673802 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.706T>A; p.Y236N; 17:7674257-7674257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.706T>A; p.Y236N; 17:7674257-7674257 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.319_328del10; p.Y107fs*13; 17:7676041-7676050 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.376_393del18; p.Y126_N131delYSPALN; 17:7675219-7675236 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.706T>A; p.Y236N; 17:7674257-7674257 |
breast | carcinoma | Substitution - Missense |
c.706T>A; p.Y236N; 17:7674257-7674257 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614A>C; p.Y205S; 17:7674917-7674917 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1006G>T; p.E336*; 17:7670703-7670703 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.509_510insN; p.E171fs*10; 17:7675102-7675103 |
lung | carcinoma; non_small_cell_carcinoma | Insertion - Frameshift |
c.460_466delGGCACCC; p.G154fs*14; 17:7675146-7675152 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.264_265insN; p.P89fs*60; 17:7676104-7676105 |
breast | carcinoma | Insertion - Frameshift |
c.707A>C; p.Y236S; 17:7674256-7674256 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.594delA; p.G199fs*48; 17:7674937-7674937 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.946_947delCC; p.Q317fs*19; 17:7673581-7673582 |
breast | carcinoma | Deletion - Frameshift |
c.614A>C; p.Y205S; 17:7674917-7674917 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; large_cell | Substitution - Missense |
c.614A>C; p.Y205S; 17:7674917-7674917 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.505A>G; p.M169V; 17:7675107-7675107 |
soft_tissue; blood_vessel | Kaposi_sarcoma | Substitution - Missense |
c.949C>A; p.Q317K; 17:7673579-7673579 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1140T>C; p.H380H; 17:7669651-7669651 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.673-1G>C; p.?; 17:7674291-7674291 |
lung | carcinoma; adenocarcinoma | Unknown |
c.706T>A; p.Y236N; 17:7674257-7674257 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.460_466delGGCACCC; p.G154fs*14; 17:7675146-7675152 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.1006G>T; p.E336*; 17:7670703-7670703 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.768_769delAC; p.L257fs*6; 17:7674194-7674195 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.673-1G>C; p.?; 17:7674291-7674291 |
lung | carcinoma; large_cell_carcinoma | Unknown |
c.145G>T; p.D49Y; 17:7676224-7676224 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.706T>A; p.Y236N; 17:7674257-7674257 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.614A>C; p.Y205S; 17:7674917-7674917 |
breast | other; neoplasm | Substitution - Missense |
c.1006G>T; p.E336*; 17:7670703-7670703 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.417_422delGACCTG; p.K139_C141>N; 17:7675190-7675195 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Complex - deletion inframe |
c.614A>C; p.Y205S; 17:7674917-7674917 |
breast | carcinoma | Substitution - Missense |
c.706T>A; p.Y236N; 17:7674257-7674257 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.505A>G; p.M169V; 17:7675107-7675107 |
breast | carcinoma | Substitution - Missense |
c.706T>A; p.Y236N; 17:7674257-7674257 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.513_514insN; p.V172fs*9; 17:7675098-7675099 |
breast | carcinoma | Insertion - Frameshift |
c.614A>C; p.Y205S; 17:7674917-7674917 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1006G>T; p.E336*; 17:7670703-7670703 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.145G>T; p.D49Y; 17:7676224-7676224 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.614A>C; p.Y205S; 17:7674917-7674917 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.707A>C; p.Y236S; 17:7674256-7674256 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.706T>A; p.Y236N; 17:7674257-7674257 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.706T>A; p.Y236N; 17:7674257-7674257 |
pancreas | carcinoma | Substitution - Missense |
c.449C>G; p.T150R; 17:7675163-7675163 |
large_intestine; colon | adenoma | Substitution - Missense |
c.1006G>T; p.E336*; 17:7670703-7670703 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.673-1G>C; p.?; 17:7674291-7674291 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.673-1G>C; p.?; 17:7674291-7674291 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Unknown |
c.706T>A; p.Y236N; 17:7674257-7674257 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.706T>A; p.Y236N; 17:7674257-7674257 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.280T>A; p.S94T; 17:7676089-7676089 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm | Substitution - Missense |
c.505A>G; p.M169V; 17:7675107-7675107 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.687_688delTA; p.T230fs*9; 17:7674275-7674276 |
breast | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.949C>A; p.Q317K; 17:7673579-7673579 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.280T>A; p.S94T; 17:7676089-7676089 |
large_intestine | adenoma | Substitution - Missense |
c.706T>A; p.Y236N; 17:7674257-7674257 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.614A>C; p.Y205S; 17:7674917-7674917 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.707A>C; p.Y236S; 17:7674256-7674256 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.986C>T; p.T329I; 17:7673542-7673542 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.707A>C; p.Y236S; 17:7674256-7674256 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.597A>G; p.G199G; 17:7674934-7674934 |
breast | carcinoma | Substitution - coding silent |
c.671A>TCT; p.E224fs*24; 17:7674860-7674860 |
lung | carcinoma; adenocarcinoma | Complex - frameshift |
c.1006G>T; p.E336*; 17:7670703-7670703 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Nonsense |
c.614A>C; p.Y205S; 17:7674917-7674917 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.706T>A; p.Y236N; 17:7674257-7674257 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.597A>G; p.G199G; 17:7674934-7674934 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - coding silent |
c.376_393del18; p.Y126_N131delYSPALN; 17:7675219-7675236 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.614A>C; p.Y205S; 17:7674917-7674917 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.707A>C; p.Y236S; 17:7674256-7674256 |
haematopoietic_and_lymphoid_tissue; stomach | lymphoid_neoplasm | Substitution - Missense |
c.706T>A; p.Y236N; 17:7674257-7674257 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.706T>A; p.Y236N; 17:7674257-7674257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.706T>A; p.Y236N; 17:7674257-7674257 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1009delC; p.R337fs*8; 17:7670700-7670700 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.614A>C; p.Y205S; 17:7674917-7674917 |
ovary | carcinoma | Substitution - Missense |
c.949C>A; p.Q317K; 17:7673579-7673579 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.706T>A; p.Y236N; 17:7674257-7674257 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1006G>T; p.E336*; 17:7670703-7670703 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.614A>C; p.Y205S; 17:7674917-7674917 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.630C>T; p.N210N; 17:7674901-7674901 |
soft_tissue; fat | liposarcoma; myxoid-round_cell | Substitution - coding silent |
c.614A>C; p.Y205S; 17:7674917-7674917 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.376_393del18; p.Y126_N131delYSPALN; 17:7675219-7675236 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1018delA; p.M340fs*5; 17:7670691-7670691 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.614A>C; p.Y205S; 17:7674917-7674917 |
oesophagus | carcinoma | Substitution - Missense |
c.974G>A; p.G325E; 17:7673554-7673554 |
breast | carcinoma | Substitution - Missense |
c.464C>G; p.T155S; 17:7675148-7675148 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.560-1G>T; p.?; 17:7674972-7674972 |
liver | carcinoma | Unknown |
c.613T>G; p.Y205D; 17:7674918-7674918 |
central_nervous_system; frontal_lobe | glioma; astrocytoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.349delG; p.T118fs*5; 17:7676020-7676020 |
eye; conjunctiva | other; pterygium | Deletion - Frameshift |
c.751delA; p.I251fs*94; 17:7674212-7674212 |
breast | carcinoma | Deletion - Frameshift |
c.481G>A; p.A161T; 17:7675131-7675131 |
large_intestine; rectum | carcinoma | Substitution - Missense |
c.560-1G>T; p.?; 17:7674972-7674972 |
lung | carcinoma; adenocarcinoma | Unknown |
c.595G>T; p.G199*; 17:7674936-7674936 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.613T>G; p.Y205D; 17:7674918-7674918 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.724T>C; p.C242R; 17:7674239-7674239 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.337T>C; p.F113L; 17:7676032-7676032 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
breast | carcinoma | Substitution - Missense |
c.751delA; p.I251fs*94; 17:7674212-7674212 |
breast | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.481G>A; p.A161T; 17:7675131-7675131 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.724T>C; p.C242R; 17:7674239-7674239 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.627A>T; p.R209S; 17:7674904-7674904 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.788A>T; p.N263I; 17:7673832-7673832 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.595G>T; p.G199*; 17:7674936-7674936 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.629A>G; p.N210S; 17:7674902-7674902 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
peritoneum | other; solitary_fibrous_tumour | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
meninges | meningioma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.724T>C; p.C242R; 17:7674239-7674239 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
lung | carcinoma; pleomorphic_carcinoma | Substitution - Missense |
c.154_155insNNNN; p.Q52fs*6; 17:7676214-7676215 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.502C>A; p.H168N; 17:7675110-7675110 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.13C>T; p.Q5*; 17:7676582-7676582 |
central_nervous_system; brain | glioma; astrocytoma_Grade_I | Substitution - Nonsense |
c.481G>A; p.A161T; 17:7675131-7675131 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.263delC; p.S90fs*33; 17:7676106-7676106 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.382_384delCCT; p.P128delP; 17:7675228-7675230 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - In frame |
c.1137C>T; p.R379R; 17:7669654-7669654 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.481G>A; p.A161T; 17:7675131-7675131 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.595G>T; p.G199*; 17:7674936-7674936 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.613T>G; p.Y205D; 17:7674918-7674918 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.716A>C; p.N239T; 17:7674247-7674247 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.524_525delGC; p.R175fs*5; 17:7675087-7675088 |
adrenal_gland; adrenal_gland | adrenal_cortical_adenoma | Deletion - Frameshift |
c.481G>A; p.A161T; 17:7675131-7675131 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.560-1G>T; p.?; 17:7674972-7674972 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.349delG; p.T118fs*5; 17:7676020-7676020 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.716A>C; p.N239T; 17:7674247-7674247 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.751delA; p.I251fs*94; 17:7674212-7674212 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - Frameshift |
c.613T>G; p.Y205D; 17:7674918-7674918 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.788A>T; p.N263I; 17:7673832-7673832 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.724T>C; p.C242R; 17:7674239-7674239 |
prostate | carcinoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1024_1025ins10; p.N345fs*5; 17:7670684-7670685 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.783T>C; p.S261S; 17:7673837-7673837 |
stomach | carcinoma; tubular_adenocarcinoma | Substitution - coding silent |
c.481G>A; p.A161T; 17:7675131-7675131 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.560-1G>T; p.?; 17:7674972-7674972 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.481G>A; p.A161T; 17:7675131-7675131 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.724T>C; p.C242R; 17:7674239-7674239 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.560-1G>T; p.?; 17:7674972-7674972 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.613T>G; p.Y205D; 17:7674918-7674918 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.724T>C; p.C242R; 17:7674239-7674239 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.613T>G; p.Y205D; 17:7674918-7674918 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.613T>G; p.Y205D; 17:7674918-7674918 |
skin; leg | other; keratosis | Substitution - Missense |
c.716A>C; p.N239T; 17:7674247-7674247 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.435_438delGTGG; p.W146fs*23; 17:7675174-7675177 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.783T>C; p.S261S; 17:7673837-7673837 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - coding silent |
c.201_202insN; p.E68fs*81; 17:7676167-7676168 |
breast | carcinoma | Insertion - Frameshift |
c.751delA; p.I251fs*94; 17:7674212-7674212 |
breast | carcinoma | Deletion - Frameshift |
c.724T>C; p.C242R; 17:7674239-7674239 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.560-1G>T; p.?; 17:7674972-7674972 |
lung | carcinoma; adenocarcinoma | Unknown |
c.481G>A; p.A161T; 17:7675131-7675131 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
pancreas | other; cystic_tumour | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
ovary | other; neoplasm | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
prostate | adenoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.613T>G; p.Y205D; 17:7674918-7674918 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.724T>C; p.C242R; 17:7674239-7674239 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.613T>G; p.Y205D; 17:7674918-7674918 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.724T>C; p.C242R; 17:7674239-7674239 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.182A>G; p.D61G; 17:7676187-7676187 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
large_intestine; appendix | carcinoid-endocrine_tumour | Substitution - Missense |
c.716A>C; p.N239T; 17:7674247-7674247 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.560-1G>T; p.?; 17:7674972-7674972 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.724T>C; p.C242R; 17:7674239-7674239 |
ovary | carcinoma | Substitution - Missense |
c.772_774delGAA; p.E258delE; 17:7674189-7674191 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.613T>G; p.Y205D; 17:7674918-7674918 |
breast | carcinoma | Substitution - Missense |
c.742delC; p.R248fs*97; 17:7674221-7674221 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.560-1G>T; p.?; 17:7674972-7674972 |
liver | carcinoma | Unknown |
c.481G>A; p.A161T; 17:7675131-7675131 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.613T>G; p.Y205D; 17:7674918-7674918 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
pancreas | carcinoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
thyroid | carcinoma; papillary_carcinoma | Substitution - Missense |
c.716A>C; p.N239T; 17:7674247-7674247 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.595G>T; p.G199*; 17:7674936-7674936 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.481G>A; p.A161T; 17:7675131-7675131 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.560-1G>T; p.?; 17:7674972-7674972 |
ovary | other; neoplasm | Unknown |
c.481G>A; p.A161T; 17:7675131-7675131 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.724T>C; p.C242R; 17:7674239-7674239 |
prostate | carcinoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
pleura | pulmonary_blastoma | Substitution - Missense |
c.716A>C; p.N239T; 17:7674247-7674247 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.520_528delAGGCGCTGC; p.R174_C176delRRC; 17:7675084-7675092 |
breast | carcinoma; ductal_carcinoma | Deletion - In frame |
c.481G>A; p.A161T; 17:7675131-7675131 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.613T>G; p.Y205D; 17:7674918-7674918 |
breast | carcinoma | Substitution - Missense |
c.215_216GC>T; p.R72fs*51; 17:7676153-7676154 |
lung | carcinoma; squamous_cell_carcinoma | Complex - frameshift |
c.481G>A; p.A161T; 17:7675131-7675131 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.716A>C; p.N239T; 17:7674247-7674247 |
breast | carcinoma | Substitution - Missense |
c.613T>G; p.Y205D; 17:7674918-7674918 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.493_507del15; p.Q165_M169delQSQHM; 17:7675105-7675119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.751delA; p.I251fs*94; 17:7674212-7674212 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.481G>A; p.A161T; 17:7675131-7675131 |
oesophagus | carcinoma | Substitution - Missense |
c.560-1G>T; p.?; 17:7674972-7674972 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.595G>T; p.G199*; 17:7674936-7674936 |
breast | carcinoma | Substitution - Nonsense |
c.481G>A; p.A161T; 17:7675131-7675131 |
central_nervous_system; parietal_lobe | glioma; astrocytoma | Substitution - Missense |
c.742delC; p.R248fs*97; 17:7674221-7674221 |
bone | osteosarcoma | Deletion - Frameshift |
c.97_107del11; p.S33fs*6; 17:7676262-7676272 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.560-1G>T; p.?; 17:7674972-7674972 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.571_578delCCTCAGCA; p.P191fs*15; 17:7674953-7674960 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Deletion - Frameshift |
c.629A>G; p.N210S; 17:7674902-7674902 |
breast | carcinoma | Substitution - Missense |
c.13C>T; p.Q5*; 17:7676582-7676582 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.481G>A; p.A161T; 17:7675131-7675131 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.376-8_376-7insN; p.?; 17:7675243-7675244 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.481G>A; p.A161T; 17:7675131-7675131 |
small_intestine; duodenum | carcinoma; adenocarcinoma | Substitution - Missense |
c.724T>C; p.C242R; 17:7674239-7674239 |
ovary | carcinoma | Substitution - Missense |
c.349delG; p.T118fs*5; 17:7676020-7676020 |
skin; trunk | carcinoma; basal_cell_carcinoma | Deletion - Frameshift |
c.682_683delGA; p.D228fs*11; 17:7674280-7674281 |
breast | carcinoma | Deletion - Frameshift |
c.481G>A; p.A161T; 17:7675131-7675131 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.560-1G>T; p.?; 17:7674972-7674972 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.481G>A; p.A161T; 17:7675131-7675131 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.613T>G; p.Y205D; 17:7674918-7674918 |
skin; leg | other; keratosis | Substitution - Missense |
c.481G>A; p.A161T; 17:7675131-7675131 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.751delA; p.I251fs*94; 17:7674212-7674212 |
stomach | adenoma | Deletion - Frameshift |
c.29T>G; p.V10G; 17:7676566-7676566 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.747G>A; p.R249R; 17:7674216-7674216 |
breast | carcinoma | Substitution - coding silent |
c.714T>A; p.C238*; 17:7674249-7674249 |
lung | carcinoma; large_cell_carcinoma | Substitution - Nonsense |
c.757A>T; p.T253S; 17:7674206-7674206 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>A; p.R249R; 17:7674216-7674216 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.586C>A; p.R196R; 17:7674945-7674945 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.718_720AGT>TGTTCCTGT; p.S240>CSC; 17:7674243-7674245 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; classic | Complex - insertion inframe |
c.454C>A; p.P152T; 17:7675158-7675158 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.376-1G>A; p.?; 17:7675237-7675237 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.376-1G>A; p.?; 17:7675237-7675237 |
pancreas | carcinoma | Unknown |
c.376-1G>A; p.?; 17:7675237-7675237 |
breast | carcinoma | Unknown |
c.836_837GG>AA; p.G279E; 17:7673783-7673784 |
skin; leg | in_situ_epithelial_neoplasm; Bowen_disease | Substitution - Missense |
c.376-1G>A; p.?; 17:7675237-7675237 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.532_533insN; p.H178fs*3; 17:7675079-7675080 |
skin | other; keloid | Insertion - Frameshift |
c.532_533insN; p.H178fs*3; 17:7675079-7675080 |
breast | carcinoma | Insertion - Frameshift |
c.376-1G>A; p.?; 17:7675237-7675237 |
stomach | carcinoma; intestinal_adenocarcinoma | Unknown |
c.454C>A; p.P152T; 17:7675158-7675158 |
central_nervous_system; frontal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.757A>T; p.T253S; 17:7674206-7674206 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.151G>T; p.E51*; 17:7676218-7676218 |
breast | carcinoma | Substitution - Nonsense |
c.376-1G>A; p.?; 17:7675237-7675237 |
large_intestine | carcinoma; adenocarcinoma | Unknown |
c.151G>T; p.E51*; 17:7676218-7676218 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.151G>T; p.E51*; 17:7676218-7676218 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.314G>T; p.G105V; 17:7676055-7676055 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.747G>A; p.R249R; 17:7674216-7674216 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.957G>T; p.K319N; 17:7673571-7673571 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.376-1G>A; p.?; 17:7675237-7675237 |
pancreas | carcinoma; ductal_carcinoma | Unknown |
c.376-1G>A; p.?; 17:7675237-7675237 |
liver | carcinoma | Unknown |
c.743delG; p.R249fs*96; 17:7674220-7674220 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.151G>T; p.E51*; 17:7676218-7676218 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Nonsense |
c.645_646insNNN; p.S215_V216insX; 17:7674885-7674886 |
large_intestine; appendix | carcinoma; adenocarcinoma | Insertion - In frame |
c.314G>T; p.G105V; 17:7676055-7676055 |
pancreas | carcinoma | Substitution - Missense |
c.747G>A; p.R249R; 17:7674216-7674216 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.665C>T; p.P222L; 17:7674866-7674866 |
haematopoietic_and_lymphoid_tissue; eye | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.151G>T; p.E51*; 17:7676218-7676218 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.757_758insN; p.T253fs*11; 17:7674205-7674206 |
oesophagus | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.376-1G>A; p.?; 17:7675237-7675237 |
liver | carcinoma | Unknown |
c.532C>A; p.H178N; 17:7675080-7675080 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.762delC; p.I255fs*90; 17:7674201-7674201 |
skin; trunk | in_situ_epithelial_neoplasm; Bowen_disease | Deletion - Frameshift |
c.302A>G; p.K101R; 17:7676067-7676067 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.532C>A; p.H178N; 17:7675080-7675080 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.314G>T; p.G105V; 17:7676055-7676055 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.376-1G>A; p.?; 17:7675237-7675237 |
pancreas | carcinoma | Unknown |
c.328_331delCGTC; p.R110fs*12; 17:7676038-7676041 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.376-1G>A; p.?; 17:7675237-7675237 |
skin | malignant_melanoma | Unknown |
c.532C>A; p.H178N; 17:7675080-7675080 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.454C>A; p.P152T; 17:7675158-7675158 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.714T>A; p.C238*; 17:7674249-7674249 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.454C>A; p.P152T; 17:7675158-7675158 |
lung | carcinoma; blastoma | Substitution - Missense |
c.454C>A; p.P152T; 17:7675158-7675158 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.151G>T; p.E51*; 17:7676218-7676218 |
skin; head_neck | carcinoma; basal_cell_carcinoma | Substitution - Nonsense |
c.757A>T; p.T253S; 17:7674206-7674206 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.762delC; p.I255fs*90; 17:7674201-7674201 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.665C>T; p.P222L; 17:7674866-7674866 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.740_741AC>TA; p.N247I; 17:7674222-7674223 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.757A>T; p.T253S; 17:7674206-7674206 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.714T>A; p.C238*; 17:7674249-7674249 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.747G>A; p.R249R; 17:7674216-7674216 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.376-1G>A; p.?; 17:7675237-7675237 |
pancreas | carcinoma | Unknown |
c.325T>G; p.F109V; 17:7676044-7676044 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.495_496insNNNNNNNNN; p.Q165_S166insXXX; 17:7675116-7675117 |
stomach | carcinoma; adenocarcinoma | Insertion - In frame |
c.151G>T; p.E51*; 17:7676218-7676218 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Nonsense |
c.376-1G>A; p.?; 17:7675237-7675237 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.586C>A; p.R196R; 17:7674945-7674945 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.376-1G>A; p.?; 17:7675237-7675237 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.376-1G>A; p.?; 17:7675237-7675237 |
pancreas | carcinoma; ductal_carcinoma | Unknown |
c.559+11G>T; p.?; 17:7675042-7675042 |
skin | benign_melanocytic_nevus; dysplastic | Unknown |
c.454C>A; p.P152T; 17:7675158-7675158 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.376-1G>A; p.?; 17:7675237-7675237 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.454C>A; p.P152T; 17:7675158-7675158 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.376-1G>A; p.?; 17:7675237-7675237 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.718delA; p.S240fs*7; 17:7674245-7674245 |
prostate | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.117_118insCTGGATGG; p.M40fs*7; 17:7676251-7676252 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.376-1G>A; p.?; 17:7675237-7675237 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.151G>T; p.E51*; 17:7676218-7676218 |
skin | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.957G>T; p.K319N; 17:7673571-7673571 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.718delA; p.S240fs*7; 17:7674245-7674245 |
breast | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.376-1G>A; p.?; 17:7675237-7675237 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.665C>T; p.P222L; 17:7674866-7674866 |
skin | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.757A>T; p.T253S; 17:7674206-7674206 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.376-1G>A; p.?; 17:7675237-7675237 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.747G>A; p.R249R; 17:7674216-7674216 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.302A>G; p.K101R; 17:7676067-7676067 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.325T>G; p.F109V; 17:7676044-7676044 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.621T>C; p.D207D; 17:7674910-7674910 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - coding silent |
c.376-1G>A; p.?; 17:7675237-7675237 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.714T>A; p.C238*; 17:7674249-7674249 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.376-1G>A; p.?; 17:7675237-7675237 |
prostate | carcinoma; adenocarcinoma | Unknown |
c.151G>T; p.E51*; 17:7676218-7676218 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.665C>T; p.P222L; 17:7674866-7674866 |
skin; arm | in_situ_epithelial_neoplasm; actinic_keratosis | Substitution - Missense |
c.151G>T; p.E51*; 17:7676218-7676218 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.302A>G; p.K101R; 17:7676067-7676067 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.376-1G>A; p.?; 17:7675237-7675237 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.762delC; p.I255fs*90; 17:7674201-7674201 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.1012T>A; p.F338I; 17:7670697-7670697 |
breast | carcinoma | Substitution - Missense |
c.695T>G; p.I232S; 17:7674268-7674268 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.695T>G; p.I232S; 17:7674268-7674268 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.569_570insN; p.P191fs*18; 17:7674961-7674962 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.490_499del10; p.K164fs*3; 17:7675113-7675122 |
breast | carcinoma | Deletion - Frameshift |
c.842A>C; p.D281A; 17:7673778-7673778 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.695T>G; p.I232S; 17:7674268-7674268 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.471_472CC>TT; p.R158C; 17:7675140-7675141 |
skin; face | in_situ_epithelial_neoplasm | Substitution - Missense |
c.806G>C; p.S269T; 17:7673814-7673814 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.733delG; p.G245fs*2; 17:7674230-7674230 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.695T>G; p.I232S; 17:7674268-7674268 |
breast | carcinoma | Substitution - Missense |
c.733delG; p.G245fs*2; 17:7674230-7674230 |
ovary | carcinoma | Deletion - Frameshift |
c.787A>G; p.N263D; 17:7673833-7673833 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.332T>A; p.L111Q; 17:7676037-7676037 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.695T>G; p.I232S; 17:7674268-7674268 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.376-4A>G; p.?; 17:7675240-7675240 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.376-4A>G; p.?; 17:7675240-7675240 |
oesophagus | other; Barrett_oesophagus | Unknown |
c.432G>T; p.Q144H; 17:7675180-7675180 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.500A>G; p.Q167R; 17:7675112-7675112 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.332T>A; p.L111Q; 17:7676037-7676037 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.379_382delTCCC; p.S127fs*42; 17:7675230-7675233 |
lung | carcinoma | Deletion - Frameshift |
c.332T>A; p.L111Q; 17:7676037-7676037 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.787A>G; p.N263D; 17:7673833-7673833 |
breast | carcinoma | Substitution - Missense |
c.462C>A; p.G154G; 17:7675150-7675150 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.963A>G; p.K321K; 17:7673565-7673565 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.332T>A; p.L111Q; 17:7676037-7676037 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.886C>A; p.H296N; 17:7673734-7673734 |
breast | carcinoma | Substitution - Missense |
c.500A>G; p.Q167R; 17:7675112-7675112 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.432G>T; p.Q144H; 17:7675180-7675180 |
breast | carcinoma | Substitution - Missense |
c.332T>A; p.L111Q; 17:7676037-7676037 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.733delG; p.G245fs*2; 17:7674230-7674230 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.784G>A; p.G262S; 17:7673836-7673836 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.523_534>NNN; p.R175_H178>X; 17:7675078-7675089 |
breast | carcinoma | Complex - deletion inframe |
c.471_472CC>TT; p.R158C; 17:7675140-7675141 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.811_813delGAG; p.E271delE; 17:7673807-7673809 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.886C>A; p.H296N; 17:7673734-7673734 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.806G>C; p.S269T; 17:7673814-7673814 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.695T>G; p.I232S; 17:7674268-7674268 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.842A>C; p.D281A; 17:7673778-7673778 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.580_581insN; p.L194fs*15; 17:7674950-7674951 |
breast | carcinoma | Insertion - Frameshift |
c.416delA; p.K139fs*31; 17:7675196-7675196 |
skin | other; keloid | Deletion - Frameshift |
c.490_499del10; p.K164fs*3; 17:7675113-7675122 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.471_472CC>TT; p.R158C; 17:7675140-7675141 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.784G>A; p.G262S; 17:7673836-7673836 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.963A>G; p.K321K; 17:7673565-7673565 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.963A>G; p.K321K; 17:7673565-7673565 |
breast | carcinoma | Substitution - coding silent |
c.462C>A; p.G154G; 17:7675150-7675150 |
prostate | carcinoma | Substitution - coding silent |
c.1015G>A; p.E339K; 17:7670694-7670694 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.471_472CC>TT; p.R158C; 17:7675140-7675141 |
skin; head_neck | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.782G>A; p.S261N; 17:7674181-7674181 |
oesophagus | other; Barrett_oesophagus | Substitution - Missense |
c.471_472CC>TT; p.R158C; 17:7675140-7675141 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.695T>G; p.I232S; 17:7674268-7674268 |
breast | other; neoplasm | Substitution - Missense |
c.332T>A; p.L111Q; 17:7676037-7676037 |
endometrium | carcinoma; clear_cell_carcinoma | Substitution - Missense |
c.376-4A>G; p.?; 17:7675240-7675240 |
oesophagus | other; Barrett_oesophagus | Unknown |
c.332T>A; p.L111Q; 17:7676037-7676037 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.500A>G; p.Q167R; 17:7675112-7675112 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.805_808delAGCT; p.S269fs*75; 17:7673812-7673815 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.332T>A; p.L111Q; 17:7676037-7676037 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.332T>A; p.L111Q; 17:7676037-7676037 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.313delG; p.G105fs*18; 17:7676056-7676056 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.471_472CC>TT; p.R158C; 17:7675140-7675141 |
skin; head_neck | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.963A>G; p.K321K; 17:7673565-7673565 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.500A>G; p.Q167R; 17:7675112-7675112 |
breast | carcinoma | Substitution - Missense |
c.416delA; p.K139fs*31; 17:7675196-7675196 |
ovary | carcinoma | Deletion - Frameshift |
c.826G>A; p.A276T; 17:7673794-7673794 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.468_469delCG; p.V157fs*23; 17:7675143-7675144 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.713G>C; p.C238S; 17:7674250-7674250 |
central_nervous_system; frontal_lobe | glioma; astrocytoma | Substitution - Missense |
c.484A>T; p.I162F; 17:7675128-7675128 |
prostate | carcinoma | Substitution - Missense |
c.713G>C; p.C238S; 17:7674250-7674250 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.713G>C; p.C238S; 17:7674250-7674250 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.484A>T; p.I162F; 17:7675128-7675128 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.873_888del16; p.K291fs*49; 17:7673732-7673747 |
thyroid | carcinoma; anaplastic_carcinoma | Deletion - Frameshift |
c.782+42C>T; p.?; 17:7674139-7674139 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm | Unknown |
c.860A>G; p.E287G; 17:7673760-7673760 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ | Substitution - Missense |
c.445T>C; p.S149P; 17:7675167-7675167 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.713G>C; p.C238S; 17:7674250-7674250 |
soft_tissue; blood_vessel | Kaposi_sarcoma | Substitution - Missense |
c.826G>A; p.A276T; 17:7673794-7673794 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm | Substitution - Missense |
c.521_538del18; p.R174_E180>K; 17:7675074-7675091 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Complex - deletion inframe |
c.713G>C; p.C238S; 17:7674250-7674250 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.713G>C; p.C238S; 17:7674250-7674250 |
pancreas | other; cystic_tumour | Substitution - Missense |
c.676G>A; p.G226S; 17:7674287-7674287 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.484A>T; p.I162F; 17:7675128-7675128 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.722_723CC>TT; p.S241F; 17:7674240-7674241 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.783-2A>C; p.?; 17:7673839-7673839 |
central_nervous_system; brain | glioma | Unknown |
c.484A>T; p.I162F; 17:7675128-7675128 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.468_469delCG; p.V157fs*23; 17:7675143-7675144 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.713G>C; p.C238S; 17:7674250-7674250 |
breast | carcinoma | Substitution - Missense |
c.484A>T; p.I162F; 17:7675128-7675128 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.484A>T; p.I162F; 17:7675128-7675128 |
central_nervous_system; brain | glioma; astrocytoma | Substitution - Missense |
c.826G>A; p.A276T; 17:7673794-7673794 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.512A>T; p.E171V; 17:7675100-7675100 |
breast | carcinoma | Substitution - Missense |
c.484A>T; p.I162F; 17:7675128-7675128 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.445T>C; p.S149P; 17:7675167-7675167 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.783-6G>A; p.?; 17:7673843-7673843 |
urinary_tract; bladder | carcinoma | Unknown |
c.722_723CC>TT; p.S241F; 17:7674240-7674241 |
eye; conjunctiva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.326_327insTT; p.R110fs*14; 17:7676042-7676043 |
breast | carcinoma | Insertion - Frameshift |
c.744G>T; p.R248R; 17:7674219-7674219 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.826G>A; p.A276T; 17:7673794-7673794 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.860A>G; p.E287G; 17:7673760-7673760 |
breast | carcinoma | Substitution - Missense |
c.484A>T; p.I162F; 17:7675128-7675128 |
soft_tissue; blood_vessel | Kaposi_sarcoma | Substitution - Missense |
c.221C>T; p.A74V; 17:7676148-7676148 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.447_448insNNNNNNNN; p.T150fs*23; 17:7675164-7675165 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.484A>T; p.I162F; 17:7675128-7675128 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.783-2A>C; p.?; 17:7673839-7673839 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Unknown |
c.722_723CC>TT; p.S241F; 17:7674240-7674241 |
skin; face | carcinoma; basal_cell_carcinoma | Substitution - Missense |
c.445T>C; p.S149P; 17:7675167-7675167 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.445T>C; p.S149P; 17:7675167-7675167 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.826G>A; p.A276T; 17:7673794-7673794 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.782+42C>T; p.?; 17:7674139-7674139 |
central_nervous_system; cerebellum | other; central_neurocytoma | Unknown |
c.484A>T; p.I162F; 17:7675128-7675128 |
urinary_tract | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.484A>T; p.I162F; 17:7675128-7675128 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.722_723CC>TT; p.S241F; 17:7674240-7674241 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.713G>C; p.C238S; 17:7674250-7674250 |
central_nervous_system; spinal_cord | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.468_469delCG; p.V157fs*23; 17:7675143-7675144 |
ovary | carcinoma | Deletion - Frameshift |
c.826G>A; p.A276T; 17:7673794-7673794 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.826G>A; p.A276T; 17:7673794-7673794 |
breast | carcinoma | Substitution - Missense |
c.722_723CC>TT; p.S241F; 17:7674240-7674241 |
eye; conjunctiva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.676G>A; p.G226S; 17:7674287-7674287 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.960G>C; p.K320N; 17:7673568-7673568 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.960G>C; p.K320N; 17:7673568-7673568 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.661G>T; p.E221*; 17:7674870-7674870 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.527G>T; p.C176F; 17:7675085-7675085 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
oesophagus | carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.661G>T; p.E221*; 17:7674870-7674870 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.376-1G>C; p.?; 17:7675237-7675237 |
breast | carcinoma | Unknown |
c.527G>T; p.C176F; 17:7675085-7675085 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.211delC; p.V73fs*50; 17:7676158-7676158 |
lung | carcinoma | Deletion - Frameshift |
c.527G>T; p.C176F; 17:7675085-7675085 |
genital_tract; extragonadal | germ_cell_tumour; yolk_sac_tumour | Substitution - Missense |
c.960G>C; p.K320N; 17:7673568-7673568 |
breast | carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.468delC; p.V157fs*13; 17:7675144-7675144 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.527G>T; p.C176F; 17:7675085-7675085 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
liver | carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
upper_aerodigestive_tract; mouth | other; dysplasia | Substitution - Missense |
c.862_863delAA; p.N288fs*17; 17:7673757-7673758 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Deletion - Frameshift |
c.527G>T; p.C176F; 17:7675085-7675085 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
genital_tract; extragonadal | germ_cell_tumour; seminoma | Substitution - Missense |
c.661G>T; p.E221*; 17:7674870-7674870 |
oesophagus | carcinoma | Substitution - Nonsense |
c.527G>T; p.C176F; 17:7675085-7675085 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
bone; scapula | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.960G>C; p.K320N; 17:7673568-7673568 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.960G>C; p.K320N; 17:7673568-7673568 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.716_717AC>GT; p.N239S; 17:7674246-7674247 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.948C>T; p.P316P; 17:7673580-7673580 |
pancreas | carcinoma | Substitution - coding silent |
c.527G>T; p.C176F; 17:7675085-7675085 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.661G>T; p.E221*; 17:7674870-7674870 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.527G>T; p.C176F; 17:7675085-7675085 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
ovary | carcinoma; mucinous_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
ovary | carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
pancreas | carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.748C>A; p.P250T; 17:7674215-7674215 |
breast | carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Substitution - Missense |
c.661G>T; p.E221*; 17:7674870-7674870 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.527G>T; p.C176F; 17:7675085-7675085 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
breast | carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.786T>C; p.G262G; 17:7673834-7673834 |
breast | carcinoma | Substitution - coding silent |
c.527G>T; p.C176F; 17:7675085-7675085 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.584_585insN; p.I195fs*14; 17:7674946-7674947 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.527G>T; p.C176F; 17:7675085-7675085 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.802A>C; p.N268H; 17:7673818-7673818 |
thyroid | carcinoma; papillary_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.468delC; p.V157fs*13; 17:7675144-7675144 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Deletion - Frameshift |
c.527G>T; p.C176F; 17:7675085-7675085 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.661G>T; p.E221*; 17:7674870-7674870 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.599A>G; p.N200S; 17:7674932-7674932 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.558T>C; p.D186D; 17:7675054-7675054 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.527G>T; p.C176F; 17:7675085-7675085 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.655C>A; p.P219T; 17:7674876-7674876 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.427delG; p.V143fs*27; 17:7675185-7675185 |
breast | carcinoma | Deletion - Frameshift |
c.527G>T; p.C176F; 17:7675085-7675085 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1022delT; p.F341fs*4; 17:7670687-7670687 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.527G>T; p.C176F; 17:7675085-7675085 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
prostate | carcinoma | Substitution - Missense |
c.211delC; p.V73fs*50; 17:7676158-7676158 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.527G>T; p.C176F; 17:7675085-7675085 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.715_722delAACAGTTC; p.N239fs*22; 17:7674241-7674248 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.527G>T; p.C176F; 17:7675085-7675085 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
vulva | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.427delG; p.V143fs*27; 17:7675185-7675185 |
breast | carcinoma | Deletion - Frameshift |
c.527G>T; p.C176F; 17:7675085-7675085 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Missense |
c.661G>T; p.E221*; 17:7674870-7674870 |
breast | carcinoma | Substitution - Nonsense |
c.527G>T; p.C176F; 17:7675085-7675085 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.960G>C; p.K320N; 17:7673568-7673568 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
stomach | carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
breast | carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
soft_tissue; striated_muscle | rhabdomyosarcoma | Substitution - Missense |
c.661G>T; p.E221*; 17:7674870-7674870 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.527G>T; p.C176F; 17:7675085-7675085 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
ovary | other; neoplasm | Substitution - Missense |
c.661G>T; p.E221*; 17:7674870-7674870 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.527G>T; p.C176F; 17:7675085-7675085 |
ovary | other; neoplasm | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.839_840delGA; p.D281fs*24; 17:7673780-7673781 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.527G>T; p.C176F; 17:7675085-7675085 |
ovary | carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.468delC; p.V157fs*13; 17:7675144-7675144 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.948C>T; p.P316P; 17:7673580-7673580 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.527G>T; p.C176F; 17:7675085-7675085 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.661G>T; p.E221*; 17:7674870-7674870 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.527G>T; p.C176F; 17:7675085-7675085 |
stomach | adenocarcinoma | Substitution - Missense |
c.623_649del27; p.D208_V216delDRNTFRHSV; 17:7674882-7674908 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.527G>T; p.C176F; 17:7675085-7675085 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
stomach | carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
oesophagus | other; dysplasia | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.655C>A; p.P219T; 17:7674876-7674876 |
vulva | carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.661G>T; p.E221*; 17:7674870-7674870 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.730_731insCC; p.G244fs*4; 17:7674232-7674233 |
liver | carcinoma; hepatocellular_carcinoma | Insertion - Frameshift |
c.802A>C; p.N268H; 17:7673818-7673818 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
upper_aerodigestive_tract; larynx | carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.584_585insN; p.I195fs*14; 17:7674946-7674947 |
pancreas | other; adenoma | Insertion - Frameshift |
c.527G>T; p.C176F; 17:7675085-7675085 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
stomach | adenocarcinoma | Substitution - Missense |
c.736_750del15; p.M246_P250delMNRRP; 17:7674213-7674227 |
upper_aerodigestive_tract; head_neck | carcinoma | Deletion - In frame |
c.527G>T; p.C176F; 17:7675085-7675085 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
pleura | pulmonary_blastoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
prostate | carcinoma | Substitution - Missense |
c.802A>C; p.N268H; 17:7673818-7673818 |
breast | carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
breast | carcinoma | Substitution - Missense |
c.736_750del15; p.M246_P250delMNRRP; 17:7674213-7674227 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.527G>T; p.C176F; 17:7675085-7675085 |
breast | carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
breast | carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.599A>G; p.N200S; 17:7674932-7674932 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.661G>T; p.E221*; 17:7674870-7674870 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.558T>C; p.D186D; 17:7675054-7675054 |
breast | carcinoma | Substitution - coding silent |
c.527G>T; p.C176F; 17:7675085-7675085 |
skin; leg | in_situ_epithelial_neoplasm; Bowen_disease | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.948C>T; p.P316P; 17:7673580-7673580 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.527G>T; p.C176F; 17:7675085-7675085 |
pancreas | carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.211delC; p.V73fs*50; 17:7676158-7676158 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.527G>T; p.C176F; 17:7675085-7675085 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.661G>T; p.E221*; 17:7674870-7674870 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.527G>T; p.C176F; 17:7675085-7675085 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
oesophagus | other; hyperplasia | Substitution - Missense |
c.376-1G>C; p.?; 17:7675237-7675237 |
breast | carcinoma | Unknown |
c.527G>T; p.C176F; 17:7675085-7675085 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.C176F; 17:7675085-7675085 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |