TABLE 2.
Gene Symbol | Effect | Transcript:exon:CDS | SIFT | Polyphen2-HDIV | Polyphen2-HVAR | Mutation Taster | Sample | VAF |
ATM | Non-sense | NM_000051:exon46:c.C6725A:p.S2242X | NA | NA | NA | D | CHG004878 | 0.13 |
ATM | Missense | NM_000051:exon60:c.T8699C:p.L2900P | D | D | D | D | CHG004882 | 0.13 |
ATM | Missense | NM_000051:exon24:c.T3458C:p.V1153A | T | B | B | N | CHG004884 | 0.10 |
CHD4 | Missense | NM_001297553:exon9:c.C1460T | T | D | B | D | CHG004878 | 0.13 |
CHD4 | Missense | NM_001297553:exon18:c.G2831A:p.G944E | D | D | D | D | CHG004884 | 0.34 |
FAT1 | Non-sense | NM_005245:exon2:c.G370T:p.E124X | A | CHG004880 | 0.14 | |||
FAT1 | Missense | NM_005245:exon10:c.C6110T:p.T2037M | D | B | B | N | CHG004888 | 0.18 |
KMT2D | Missense | NM_003482:exon34:c.G9484A:p.G3162S | D | B | B | N | CHG004878 | 0.10 |
KMT2D | Missense | NM_003482:exon48:c.G15713A:p.R5238Q | T | D | P | D | CHG004892 | 0.14 |
MED12 | Missense | NM_005120:exon3:c.C385A:p.L129I | D | D | D | D | CHG004886 | 0.25 |
MED12 | Missense | NM_005120:exon28:c.G4037A:p.R1346H | D | P | B | D | CHG004890 | 0.25 |
NF2 | Missense | NM_181830:exon14:c.G1517A:p.C506Y | D | D | D | D | CHG004880 | 0.22 |
NF2 | Non-sense | NM_181830:exon10:c.C979T:p.Q327X | A | CHG004884 | 0.50 | |||
NF2 | Inframe deletion | NM_181830:exon6:c.513_557del:p.171_186del | NA | NA | NA | NA | CHG004880 | 0.53 |
SUFU | Missense | NM_001178133:exon10:c.C1177T:p.R393W | D | D | D | D | CHG004880 | 0.49 |
SUFU | Missense | NM_001178133:exon6:c.G691A:p.G231S | D | D | D | D | CHG004886 | 0.11 |
D, deleterious; P, probably deleterious; B, benign; T, tolerant; A, disease causing automatic; N, polymorphism; NA, not available.