Gene Name | HGNC ID | COSMIC_MutID | Primary site | Primary histology | AA-Mutation | Mutation Type | Genomic Position | FATHMM prediction | FATHMM score![]() | Literature evidence |
PTPRB | 9665 | COSM142734, | skin | malignant_melanoma | p.P907L | Substitution - Missense | 12:70569935-70569935, | PATHOGENIC | 0.99812 | 19074898 |
PTPRB | 9665 | COSM3734679, | soft_tissue | angiosarcoma | p.? | Unknown | 12:70544556-70544556, | PATHOGENIC | 0.99594 | 24633157 |
PTPRB | 9665 | COSM142736, | skin | malignant_melanoma | p.S1704F | Substitution - Missense | 12:70539638-70539638, | PATHOGENIC | 0.99546 | 19074898 |
PTPRB | 9665 | COSM142748, | skin | malignant_melanoma | p.R1732* | Substitution - Nonsense | 12:70538945-70538945, | PATHOGENIC | 0.98811 | 19074898 |
PTPRB | 9665 | COSM142744, | skin | malignant_melanoma | p.T1334A | Substitution - Missense | 12:70559403-70559403, | PATHOGENIC | 0.98586 | 19074898 |
PTPRB | 9665 | COSM5989962, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.E1708Q | Substitution - Missense | 12:70539627-70539627, | PATHOGENIC | 0.9803 | 26648538 |
PTPRB | 9665 | COSM142740, | skin | malignant_melanoma | p.S877F | Substitution - Missense | 12:70571112-70571112, | PATHOGENIC | 0.97709 | 19074898 |
PTPRB | 9665 | COSM5749277, | genital_tract | germ_cell_tumour | p.R1965G | Substitution - Missense | 12:70524549-70524549, | PATHOGENIC | 0.96862 | 26956871 |
PTPRB | 9665 | COSM5749223, | genital_tract | germ_cell_tumour | p.Y142C | Substitution - Missense | 12:70596228-70596228, | PATHOGENIC | 0.9584 | 26956871 |
PTPRB | 9665 | COSM1513256, | soft_tissue | angiosarcoma | p.? | Unknown | 12:70555869-70555869, | PATHOGENIC | 0.94509 | 24633157 |
PTPRB | 9665 | COSM5749216, | genital_tract | germ_cell_tumour | p.V621M | Substitution - Missense | 12:70581099-70581099, | PATHOGENIC | 0.92893 | 26956871 |
PTPRB | 9665 | COSM142732, | skin | malignant_melanoma | p.S654F | Substitution - Missense | 12:70576609-70576609, | PATHOGENIC | 0.87964 | 19074898 |
PTPRB | 9665 | COSM142728, | skin | malignant_melanoma | p.S452I | Substitution - Missense | 12:70590005-70590005, | PATHOGENIC | 0.87929 | 19074898 |
PTPRB | 9665 | COSM142746, | skin | malignant_melanoma | p.W1340* | Substitution - Nonsense | 12:70559383-70559383, | PATHOGENIC | 0.85798 | 19074898 |
PTPRB | 9665 | COSM142726, | skin | malignant_melanoma | p.G199E | Substitution - Missense | 12:70596057-70596057, | PATHOGENIC | 0.81833 | 19074898 |
PTPRB | 9665 | COSM5702640, | autonomic_ganglia | neuroblastoma | p.W1241* | Substitution - Nonsense | 12:70560727-70560727, | NEUTRAL | 0.40578 | 27009842 |
PTPRB | 9665 | COSM1606581, | liver | carcinoma | p.Y1865Y | Substitution - coding silent | 12:70534607-70534607, | NEUTRAL | 0.35255 | Info_not_available |
PTPRB | 9665 | COSM142738, | skin | malignant_melanoma | p.R749K | Substitution - Missense | 12:70572030-70572030, | NEUTRAL | 0.26397 | 19074898 |
PTPRB | 9665 | COSM5749127, | testis | germ_cell_tumour | p.G210V | Substitution - Missense | 12:70594700-70594700, | NEUTRAL | 0.073 | 26956871 |
PTPRB | 9665 | COSM5989950, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.G156E | Substitution - Missense | 12:70596186-70596186, | NEUTRAL | 0.0081 | 26648538 |
PTPRB | 9665 | COSM5546580, | skin | malignant_melanoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 24463458 |
PTPRB | 9665 | COSM3734677, | soft_tissue | angiosarcoma | p.E1535*, p.H1454fs*6, p.R633*, p.W575* | Substitution - Nonsense, Unknown | Info_not_available | Info_not_available | Info_not_available | 24633157 |
PTPRB | 9665 | COSM142742, | skin | malignant_melanoma | p.I1063M, p.S452R | Substitution - Missense | 12:70590004-70590004, | Info_not_available | 0.55703, .67462 | 19074898 |