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. 2017 Apr 13;23(6):406–416. doi: 10.1093/molehr/gax018

Table I.

SNVs identified by the three variant-calling pipelines GATK, SAMtools and VarScan 2.

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.