| Gene Name | HGNC ID | COSMIC_MutID | Primary site | Primary histology | AA-Mutation | Mutation Type | Genomic Position | FATHMM prediction | FATHMM score | Literature evidence |
| PTK2B | 9612 | COSM131805, | skin | malignant_melanoma | p.E938K | Substitution - Missense | 8:27454609-27454609, | PATHOGENIC | 0.99371 | 19718025 |
| PTK2B | 9612 | COSM95117, | lung | carcinoma | p.R669Q | Substitution - Missense | 8:27440408-27440408, | PATHOGENIC | 0.99223 | 20668451 |
| PTK2B | 9612 | COSM5610065, | skin | malignant_melanoma | p.E674K | Substitution - Missense | 8:27440422-27440422, | PATHOGENIC | 0.99058 | 26343386 |
| PTK2B | 9612 | COSM131804, | skin | malignant_melanoma | p.R918Q | Substitution - Missense | 8:27454550-27454550, | PATHOGENIC | 0.97984 | 19718025 |
| PTK2B | 9612 | COSM5610076, | skin | malignant_melanoma | p.S199F | Substitution - Missense | 8:27430137-27430137, | PATHOGENIC | 0.96839 | 26343386 |
| PTK2B | 9612 | COSM131802, | skin | malignant_melanoma | p.E792K | Substitution - Missense | 8:27450782-27450782, | PATHOGENIC | 0.96411 | 19718025 |
| PTK2B | 9612 | COSM5610071, | skin | malignant_melanoma | p.? | Unknown | 8:27430363-27430363, | PATHOGENIC | 0.96405 | 26343386 |
| PTK2B | 9612 | COSM131794, | skin | malignant_melanoma | p.W273* | Substitution - Nonsense | 8:27431405-27431405, | PATHOGENIC | 0.95202 | 19718025 |
| PTK2B | 9612 | COSM5610058, | skin | malignant_melanoma | p.S980L | Substitution - Missense | 8:27458418-27458418, | PATHOGENIC | 0.93268 | 26343386 |
| PTK2B | 9612 | COSM95119, | lung | carcinoma | p.K813N | Substitution - Missense | 8:27450847-27450847, | PATHOGENIC | 0.93151 | 20668451 |
| PTK2B | 9612 | COSM131796, | skin | malignant_melanoma | p.G414E | Substitution - Missense | 8:27435791-27435791, | PATHOGENIC | 0.88482 | 19718025 |
| PTK2B | 9612 | COSM131798, | skin | malignant_melanoma | p.R429C | Substitution - Missense | 8:27436292-27436292, | PATHOGENIC | 0.85371 | 19718025 |
| PTK2B | 9612 | COSM3763285, | soft_tissue | haemangioblastoma | p.P717P | Substitution - coding silent | 8:27444208-27444208, | PATHOGENIC | 0.83608 | 25589003 |
| PTK2B | 9612 | COSM3763285, | soft_tissue | haemangioblastoma | p.P717P | Substitution - coding silent | 8:27444208-27444208, | PATHOGENIC | 0.83608 | 25589003 |
| PTK2B | 9612 | COSM3763285, | soft_tissue | haemangioblastoma | p.P717P | Substitution - coding silent | 8:27444208-27444208, | PATHOGENIC | 0.83608 | 25589003 |
| PTK2B | 9612 | COSM5610062, | skin | malignant_melanoma | p.I500I | Substitution - coding silent | 8:27437469-27437469, | PATHOGENIC | 0.81822 | 26343386 |
| PTK2B | 9612 | COSM131800, | skin | malignant_melanoma | p.E494K | Substitution - Missense | 8:27437449-27437449, | PATHOGENIC | 0.8157 | 19718025 |
| PTK2B | 9612 | COSM5019372, | soft_tissue | haemangioblastoma | p.? | Unknown | 8:27454618-27454618, | PATHOGENIC | 0.80223 | 25589003 |
| PTK2B | 9612 | COSM5019372, | soft_tissue | haemangioblastoma | p.? | Unknown | 8:27454618-27454618, | PATHOGENIC | 0.80223 | 25589003 |
| PTK2B | 9612 | COSM5019372, | soft_tissue | haemangioblastoma | p.? | Unknown | 8:27454618-27454618, | PATHOGENIC | 0.80223 | 25589003 |
| PTK2B | 9612 | COSM5019372, | soft_tissue | haemangioblastoma | p.? | Unknown | 8:27454618-27454618, | PATHOGENIC | 0.80223 | 25589003 |
| PTK2B | 9612 | COSM5019372, | soft_tissue | haemangioblastoma | p.? | Unknown | 8:27454618-27454618, | PATHOGENIC | 0.80223 | 25589003 |
| PTK2B | 9612 | COSM5019372, | soft_tissue | haemangioblastoma | p.? | Unknown | 8:27454618-27454618, | PATHOGENIC | 0.80223 | 25589003 |
| PTK2B | 9612 | COSM5019372, | soft_tissue | haemangioblastoma | p.? | Unknown | 8:27454618-27454618, | PATHOGENIC | 0.80223 | 25589003 |
| PTK2B | 9612 | COSM5019372, | soft_tissue | haemangioblastoma | p.? | Unknown | 8:27454618-27454618, | PATHOGENIC | 0.80223 | 25589003 |
| PTK2B | 9612 | COSM5019372, | soft_tissue | haemangioblastoma | p.? | Unknown | 8:27454618-27454618, | PATHOGENIC | 0.80223 | 25589003 |
| PTK2B | 9612 | COSM5019372, | soft_tissue | haemangioblastoma | p.? | Unknown | 8:27454618-27454618, | PATHOGENIC | 0.80223 | 25589003 |
| PTK2B | 9612 | COSM5019372, | soft_tissue | haemangioblastoma | p.? | Unknown | 8:27454618-27454618, | PATHOGENIC | 0.80223 | 25589003 |
| PTK2B | 9612 | COSM5019372, | soft_tissue | haemangioblastoma | p.? | Unknown | 8:27454618-27454618, | PATHOGENIC | 0.80223 | 25589003 |
| PTK2B | 9612 | COSM5019372, | soft_tissue | haemangioblastoma | p.? | Unknown | 8:27454618-27454618, | PATHOGENIC | 0.80223 | 25589003 |
| PTK2B | 9612 | COSM3412961, | skin | carcinoma | p.A864T | Substitution - Missense | 8:27453155-27453155, | PATHOGENIC | 0.77487 | 25589618 |
| PTK2B | 9612 | COSM96165, | lung | carcinoma | p.L1003L | Substitution - coding silent | 8:27458488-27458488, | PATHOGENIC | 0.76892 | 20668451 |
| PTK2B | 9612 | COSM5610068, | skin | malignant_melanoma | p.R572R | Substitution - coding silent | 8:27439103-27439103, | PATHOGENIC | 0.73473 | 26343386 |
| PTK2B | 9612 | COSM5610060, | skin | malignant_melanoma | p.S9N | Substitution - Missense | 8:27397610-27397610, | PATHOGENIC | 0.70431 | 26343386 |
| PTK2B | 9612 | COSM5019365, | soft_tissue | haemangioblastoma | p.? | Unknown | 8:27454523-27454523, | NEUTRAL | 0.24782 | 25589003 |
| PTK2B | 9612 | COSM5019365, | soft_tissue | haemangioblastoma | p.? | Unknown | 8:27454523-27454523, | NEUTRAL | 0.24782 | 25589003 |
| PTK2B | 9612 | COSM5019365, | soft_tissue | haemangioblastoma | p.? | Unknown | 8:27454523-27454523, | NEUTRAL | 0.24782 | 25589003 |
| PTK2B | 9612 | COSM5019365, | soft_tissue | haemangioblastoma | p.? | Unknown | 8:27454523-27454523, | NEUTRAL | 0.24782 | 25589003 |
| PTK2B | 9612 | COSM5019365, | soft_tissue | haemangioblastoma | p.? | Unknown | 8:27454523-27454523, | NEUTRAL | 0.24782 | 25589003 |
| PTK2B | 9612 | COSM5019365, | soft_tissue | haemangioblastoma | p.? | Unknown | 8:27454523-27454523, | NEUTRAL | 0.24782 | 25589003 |
| PTK2B | 9612 | COSM5019365, | soft_tissue | haemangioblastoma | p.? | Unknown | 8:27454523-27454523, | NEUTRAL | 0.24782 | 25589003 |
| PTK2B | 9612 | COSM5610073, | skin | malignant_melanoma | p.R367K | Substitution - Missense | 8:27433547-27433547, | NEUTRAL | 0.18122 | 26343386 |
| PTK2B | 9612 | COSM131793, | skin | malignant_melanoma | p.? | Unknown | 8:27430089-27430089, | NEUTRAL | 0.13663 | 19718025 |
| PTK2B | 9612 | COSM5019062, | soft_tissue | haemangioblastoma | p.K54K | Substitution - coding silent | 8:27397746-27397746, | NEUTRAL | 0.1214 | 25589003 |
| PTK2B | 9612 | COSM5019062, | soft_tissue | haemangioblastoma | p.K54K | Substitution - coding silent | 8:27397746-27397746, | NEUTRAL | 0.1214 | 25589003 |
| PTK2B | 9612 | COSM5019062, | soft_tissue | haemangioblastoma | p.K54K | Substitution - coding silent | 8:27397746-27397746, | NEUTRAL | 0.1214 | 25589003 |
| PTK2B | 9612 | COSM5019062, | soft_tissue | haemangioblastoma | p.K54K | Substitution - coding silent | 8:27397746-27397746, | NEUTRAL | 0.1214 | 25589003 |
| PTK2B | 9612 | COSM5019062, | soft_tissue | haemangioblastoma | p.K54K | Substitution - coding silent | 8:27397746-27397746, | NEUTRAL | 0.1214 | 25589003 |
| PTK2B | 9612 | COSM5019062, | soft_tissue | haemangioblastoma | p.K54K | Substitution - coding silent | 8:27397746-27397746, | NEUTRAL | 0.1214 | 25589003 |
| PTK2B | 9612 | COSM5019062, | soft_tissue | haemangioblastoma | p.K54K | Substitution - coding silent | 8:27397746-27397746, | NEUTRAL | 0.1214 | 25589003 |
| PTK2B | 9612 | COSM5019062, | soft_tissue | haemangioblastoma | p.K54K | Substitution - coding silent | 8:27397746-27397746, | NEUTRAL | 0.1214 | 25589003 |
| PTK2B | 9612 | COSM5019062, | soft_tissue | haemangioblastoma | p.K54K | Substitution - coding silent | 8:27397746-27397746, | NEUTRAL | 0.1214 | 25589003 |
| PTK2B | 9612 | COSM5019062, | soft_tissue | haemangioblastoma | p.K54K | Substitution - coding silent | 8:27397746-27397746, | NEUTRAL | 0.1214 | 25589003 |
| PTK2B | 9612 | COSM5019062, | soft_tissue | haemangioblastoma | p.K54K | Substitution - coding silent | 8:27397746-27397746, | NEUTRAL | 0.1214 | 25589003 |
| PTK2B | 9612 | COSM5019062, | soft_tissue | haemangioblastoma | p.K54K | Substitution - coding silent | 8:27397746-27397746, | NEUTRAL | 0.1214 | 25589003 |
| PTK2B | 9612 | COSM5019062, | soft_tissue | haemangioblastoma | p.K54K | Substitution - coding silent | 8:27397746-27397746, | NEUTRAL | 0.1214 | 25589003 |
| PTK2B | 9612 | COSM5019062, | soft_tissue | haemangioblastoma | p.K54K | Substitution - coding silent | 8:27397746-27397746, | NEUTRAL | 0.1214 | 25589003 |
| PTK2B | 9612 | COSM5019062, | soft_tissue | haemangioblastoma | p.K54K | Substitution - coding silent | 8:27397746-27397746, | NEUTRAL | 0.1214 | 25589003 |
| PTK2B | 9612 | COSM5019062, | soft_tissue | haemangioblastoma | p.K54K | Substitution - coding silent | 8:27397746-27397746, | NEUTRAL | 0.1214 | 25589003 |
| PTK2B | 9612 | COSM1559834, | soft_tissue | haemangioblastoma | p.H447H | Substitution - coding silent | 8:27436348-27436348, | NEUTRAL | 0.11995 | 25589003 |
| PTK2B | 9612 | COSM1559834, | soft_tissue | haemangioblastoma | p.H447H | Substitution - coding silent | 8:27436348-27436348, | NEUTRAL | 0.11995 | 25589003 |
| PTK2B | 9612 | COSM1559834, | soft_tissue | haemangioblastoma | p.H447H | Substitution - coding silent | 8:27436348-27436348, | NEUTRAL | 0.11995 | 25589003 |
| PTK2B | 9612 | COSM1559834, | soft_tissue | haemangioblastoma | p.H447H | Substitution - coding silent | 8:27436348-27436348, | NEUTRAL | 0.11995 | 25589003 |
| PTK2B | 9612 | COSM1559834, | soft_tissue | haemangioblastoma | p.H447H | Substitution - coding silent | 8:27436348-27436348, | NEUTRAL | 0.11995 | 25589003 |
| PTK2B | 9612 | COSM1559834, | soft_tissue | haemangioblastoma | p.H447H | Substitution - coding silent | 8:27436348-27436348, | NEUTRAL | 0.11995 | 25589003 |
| PTK2B | 9612 | COSM1559834, | soft_tissue | haemangioblastoma | p.H447H | Substitution - coding silent | 8:27436348-27436348, | NEUTRAL | 0.11995 | 25589003 |
| PTK2B | 9612 | COSM1559834, | soft_tissue | haemangioblastoma | p.H447H | Substitution - coding silent | 8:27436348-27436348, | NEUTRAL | 0.11995 | 25589003 |
| PTK2B | 9612 | COSM1559834, | soft_tissue | haemangioblastoma | p.H447H | Substitution - coding silent | 8:27436348-27436348, | NEUTRAL | 0.11995 | 25589003 |
| PTK2B | 9612 | COSM1559834, | soft_tissue | haemangioblastoma | p.H447H | Substitution - coding silent | 8:27436348-27436348, | NEUTRAL | 0.11995 | 25589003 |
| PTK2B | 9612 | COSM1559834, | soft_tissue | haemangioblastoma | p.H447H | Substitution - coding silent | 8:27436348-27436348, | NEUTRAL | 0.11995 | 25589003 |
| PTK2B | 9612 | COSM1559834, | skin | malignant_melanoma | p.H447H | Substitution - coding silent | 8:27436348-27436348, | NEUTRAL | 0.11995 | 26343386 |
| PTK2B | 9612 | COSM1559834, | soft_tissue | haemangioblastoma | p.H447H | Substitution - coding silent | 8:27436348-27436348, | NEUTRAL | 0.11995 | 25589003 |
| PTK2B | 9612 | COSM1559834, | soft_tissue | haemangioblastoma | p.H447H | Substitution - coding silent | 8:27436348-27436348, | NEUTRAL | 0.11995 | 25589003 |
| PTK2B | 9612 | COSM3647782, | skin | malignant_melanoma | p.S337S | Substitution - coding silent | 8:27433458-27433458, | NEUTRAL | 0.09466 | 26343386 |
| PTK2B | 9612 | COSM4993064, | skin | carcinoma | p.Q359E | Substitution - Missense | 8:27433522-27433522, | NEUTRAL | 0.06647 | 25589618 |
| PTK2B | 9612 | COSM3763283, | soft_tissue | haemangioblastoma | p.T110T | Substitution - coding silent | 8:27420020-27420020, | NEUTRAL | 0.04302 | 25589003 |
| PTK2B | 9612 | COSM3763283, | soft_tissue | haemangioblastoma | p.T110T | Substitution - coding silent | 8:27420020-27420020, | NEUTRAL | 0.04302 | 25589003 |
| PTK2B | 9612 | COSM3763283, | soft_tissue | haemangioblastoma | p.T110T | Substitution - coding silent | 8:27420020-27420020, | NEUTRAL | 0.04302 | 25589003 |
| PTK2B | 9612 | COSM3763283, | soft_tissue | haemangioblastoma | p.T110T | Substitution - coding silent | 8:27420020-27420020, | NEUTRAL | 0.04302 | 25589003 |
| PTK2B | 9612 | COSM3763283, | soft_tissue | haemangioblastoma | p.T110T | Substitution - coding silent | 8:27420020-27420020, | NEUTRAL | 0.04302 | 25589003 |
| PTK2B | 9612 | COSM3763283, | soft_tissue | haemangioblastoma | p.T110T | Substitution - coding silent | 8:27420020-27420020, | NEUTRAL | 0.04302 | 25589003 |
| PTK2B | 9612 | COSM3763283, | soft_tissue | haemangioblastoma | p.T110T | Substitution - coding silent | 8:27420020-27420020, | NEUTRAL | 0.04302 | 25589003 |
| PTK2B | 9612 | COSM3763283, | soft_tissue | haemangioblastoma | p.T110T | Substitution - coding silent | 8:27420020-27420020, | NEUTRAL | 0.04302 | 25589003 |
| PTK2B | 9612 | COSM3763283, | soft_tissue | haemangioblastoma | p.T110T | Substitution - coding silent | 8:27420020-27420020, | NEUTRAL | 0.04302 | 25589003 |
| PTK2B | 9612 | COSM3763283, | soft_tissue | haemangioblastoma | p.T110T | Substitution - coding silent | 8:27420020-27420020, | NEUTRAL | 0.04302 | 25589003 |
| PTK2B | 9612 | COSM3763283, | soft_tissue | haemangioblastoma | p.T110T | Substitution - coding silent | 8:27420020-27420020, | NEUTRAL | 0.04302 | 25589003 |
| PTK2B | 9612 | COSM3763283, | soft_tissue | haemangioblastoma | p.T110T | Substitution - coding silent | 8:27420020-27420020, | NEUTRAL | 0.04302 | 25589003 |
| PTK2B | 9612 | COSM3763283, | soft_tissue | haemangioblastoma | p.T110T | Substitution - coding silent | 8:27420020-27420020, | NEUTRAL | 0.04302 | 25589003 |
| PTK2B | 9612 | COSM3763283, | soft_tissue | haemangioblastoma | p.T110T | Substitution - coding silent | 8:27420020-27420020, | NEUTRAL | 0.04302 | 25589003 |
| PTK2B | 9612 | COSM3763283, | soft_tissue | haemangioblastoma | p.T110T | Substitution - coding silent | 8:27420020-27420020, | NEUTRAL | 0.04302 | 25589003 |
| PTK2B | 9612 | COSM3763283, | soft_tissue | haemangioblastoma | p.T110T | Substitution - coding silent | 8:27420020-27420020, | NEUTRAL | 0.04302 | 25589003 |
| PTK2B | 9612 | COSM3763283, | soft_tissue | haemangioblastoma | p.T110T | Substitution - coding silent | 8:27420020-27420020, | NEUTRAL | 0.04302 | 25589003 |
| PTK2B | 9612 | COSM3763283, | soft_tissue | haemangioblastoma | p.T110T | Substitution - coding silent | 8:27420020-27420020, | NEUTRAL | 0.04302 | 25589003 |
| PTK2B | 9612 | COSM3763283, | soft_tissue | haemangioblastoma | p.T110T | Substitution - coding silent | 8:27420020-27420020, | NEUTRAL | 0.04302 | 25589003 |
| PTK2B | 9612 | COSM5610078, | skin | malignant_melanoma | p.I40I, p.S73S | Substitution - coding silent | 8:27419909-27419909, | Info_not_available | 0.66823, .67213 | 26343386 |