Table I.
Type of SNV | Chromosome | Position | dbSNP138 | Y/H | O/L | GATK | SAMtools | VarScan 2 |
---|---|---|---|---|---|---|---|---|
Synonymous | chr17 | 8 108 190 | Yes | 1 | 0 | No | No | Yes |
Non-synonymous | chr17 | 8 108 331 | Yes | 165 | 149 | Yes | No | No |
Synonymous | chr17 | 8 108 339 | Yes | 128 | 110 | Yes | Yes | Yes |
Synonymous | chr17 | 8 108 552 | No | 77 | 87 | Yes | No | No |
Synonymous | chr17 | 8 108 690 | No | 94 | 83 | Yes | No | No |
Synonymous | chr17 | 8 109 901 | Yes | 0 | 1 | Yes | Yes | No |
Synonymous | chr17 | 8 110 622 | Yes | 1 | 0 | Yes | No | No |
Non-synonymous | chr17 | 8 111 091* | No | 0 | 1 | Yes | Yes | No |
Non-synonymous | chr19 | 57 743 531* | Yes | 1 | 0 | Yes | Yes | Yes |
Synonymous | chr19 | 57 744 009 | Yes | 1 | 0 | Yes | No | No |
Chromosome 17 contains AURKB and Chromosome 19 contains AURKC.
Y/H, Number of alternative alleles in the young patient; high aneuploidy rate. O/L, Number of alternative alleles in the old patient, low aneuploidy rate; SNV, single nucleotide variant.
*Indicates the SNVs further studied in this report.