Gene | Variant type | Chr | Position | Ref/Seq | Amino acid | Transcript | Read depth | Existing annotation (Allelic frequency) | Sift | Polyphen | Condel |
---|---|---|---|---|---|---|---|---|---|---|---|
CDKN2A | SNV | 9 | 21970916 | C/T | Ala/Thr | ENST00000304494.9 | 322 | CM004869 (0.027) | deleterious | benign | neutral |
CDKN2A | SNV | 9 | 21971137 | T/G | Asp/Ala | ENST00000304494.9 | 105 | COSM4163712 (NA) | deleterious | probably_damaging | deleterious |
CHD1 | Indel | 5 | 98192165 | AGG/– | Pro/Unknown | ENST00000284049.7 | NA | NA | NA | NA | NA |