| Gene | Description | Position | Nucleotide | Amino acid | Type | PolyPhen2* | Cancer-affected member | Frequency | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
 |  |  |  |  |  |  | Score prediction |  |  |  |  |  |  |  |  | |
Family 1 | Â | Â | Â | Â | Â | Â | Â | Â | 1 | 2 | 3 | 4 | 6 | 7 | 8 | Â |
 | GPRIN1 | G protein regulated inducer of neurite outgrowth 1 | chr5:176026123 | c.T713C | p.L238S | Exonic | 0.91 | D | - | + | + | + | + | + | - | 5 |
 | PINK1 | PTEN induced putative kinase 1 | chr1:20972051 | c.960-2A > G |  | Splicing | NA | NA | - | - | + | + | - | - | - | 2 |
 | POLK | Polymerase (DNA directed) kappa | chr5:74892737 | c.A2219G | p.H740R | Exonic | 0.62 | P | - | - | - | + | - | - | - | 1 |
Family 2 | Â | Â | Â | Â | Â | Â | Â | Â | 1 | 2 | 3 | 4 | 5 | 6 | Â | Â |
 | KAT6B | K(lysine) acetyltransferase 6B | chr10:76789128 | c.G4546T | p.D1516Y | Exonic | 0.95 | D | - | + | + | + | + | + |  | 5 |
 | KAT6B | K(lysine) acetyltransferase 6B | chr10:76789311 | c.C4729T | p.R1577C | Exonic | 0.96 | D | - | + | + | + | + | + |  | 5 |
 | NOTCH2 | Notch 2 | chr1:120459167 | c.C6178T | p.R2060C | Exonic | 0.99 | D | - | - | + | - | - | + |  | 2 |
Family 3 | Â | Â | Â | Â | Â | Â | Â | Â | 1 | 2 | 4 | 5 | 6 | Â | Â | Â |
 | NANP | N-acetylneuraminic acid phosphatase | chr20:25596725 | c.A583G | p.I195V | Exonic | 0.98 | D | + | - | + | - | - |  |  | 2 |
 | PHKB | phosphorylase kinase, beta | chr16:47628126 | c.1204 + 1G > T |  | Splicing | NA | NA | - | + | - | + | - |  |  | 2 |
Proband | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
1 | JAKMIP3 | Janus kinase and microtubule interacting protein 3 | chr10:133955524 | c.G1574C | p.G525A | Exonic | 1.00 | D | Â | Â | Â | Â | Â | Â | Â | Â |
2 | POLQ | Polymerase (DNA directed), theta | chr3:121207798 | c.A3980C | p.Q1327P | Exonic | 1.00 | D | Â | Â | Â | Â | Â | Â | Â | Â |
3 | DUX2 | Double homeobox 2 | chr10:135494906 | Â | Â | Splicing | NA | NA | Â | Â | Â | Â | Â | Â | Â | Â |
4 | UBE2L3 | Ubiquitin-conjugating enzyme E2L 3 | chr22:21975938 | c.G349A | p.E117K | Exonic | 0.96 | D | . | . | Â | Â | Â | Â | Â | Â |
5 | RAD23B | RAD23 homolog B (S. cerevisiae) | chr9:110087260 | c.C1028T | p.P343L | Exonic | 0.99 | D | . | . | Â | Â | Â | Â | Â | Â |
7 | GATA3 | GATA binding protein 3 | chr10:8100630 | c.C604T | p.R202C | Exonic | 0.92 | D | Â | Â | Â | Â | Â | Â | Â | Â |
8 | KAT6B | K(lysine) acetyltransferase 6B | chr10:76744854 | c.G2390A | p.S797N | Exonic | 0.98 | D | Â | Â | Â | Â | Â | Â | Â | Â |
9 | LIG1 | Ligase I, DNA, ATP-dependent | chr19:48637322 | c.G1525A | p.E509K | Exonic | 0.95 | D | . | . | Â | Â | Â | Â | Â | Â |
10 | LIG4 | Ligase IV, DNA, ATP-dependent | chr13:108862463 | c.G1154A | p.R385K | Exonic | 1.00 | D | Â | Â | Â | Â | Â | Â | Â | Â |
14 | NOTCH2 | Notch 2 | chr1:120529603 | c.G854A | p.R285H | Exonic | 1.00 | D | Â | Â | Â | Â | Â | Â | Â | Â |
15 | ABL1 | c-abl oncogene 1, non-receptor tyrosine kinase | chr9:133729493 | c.G122A | p.G41D | Exonic | 0.92 | D | Â | Â | Â | Â | Â | Â | Â | Â |
16 | TNK2 | Tyrosine kinase, non-receptor, 2 | chr3:195596385 | c.C1760T | p.P587L | Exonic | 1.00 | D | Â | Â | Â | Â | Â | Â | Â | Â |
17 | NFRKB | Nuclear factor related to kappaB binding protein | chr11:129755398 | c.G611A | p.R204H | Exonic | 1.00 | D | Â | Â | Â | Â | Â | Â | Â | Â |
18 | NFKBIZ | Nuclear factor of kappa light polypeptide gene enhancer | chr3:101576029 | Â | Â | Splicing | NA | NA | Â | Â | Â | Â | Â | Â | Â | Â |
19 | SMG1 | SMG1 phosphatidylinositol 3-kinase-related kinase | chr16:18879624 | c.C3083T | p.T1028M | Exonic | 0.99 | D | Â | Â | Â | Â | Â | Â | Â | Â |
20 | PRKCQ | Protein kinase C, theta | chr10:6528042 | c.G855C | p.Q285H | Exonic | 1.00 | D | Â | Â | Â | Â | Â | Â | Â | Â |
21 | ADRA2A | Adrenoceptor alpha 2A | chr10:112838117 | c.C363G | p.C121W | Exonic | 1.00 | D | Â | Â | Â | Â | Â | Â | Â | Â |
22 | PPFIA4 | Protein tyrosine phosphatase, receptor type | chr1:203025582 | c.C668T | p.T223M | Exonic | 0.92 | D | Â | Â | Â | Â | Â | Â | Â | Â |