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. 2020 May 31;18(5):375–384. doi: 10.18502/ijrm.v13i5.7158

Table 6.

Private variants of pedigree I called with SAMtools and GATK


Individual 200 201 202 203 Case /control
SAMtools GATK SAMtools GATK SAMtools GATK SAMtools GATK SAMtools GATK
Nonsynonymous SNV 770 698 792 675 820 751 748 663 85 56
Frame shift 160 23 148 25 162 24 167 23 23 4
Indel 754 60 779 67 726 61 781 54 224 12
Stopgain 28 6 33 11 35 12 28 10 8 1
Stoploss 33 3 3 1 2 0 7 1 5 0
5´UTR 669 84 712 98 603 92 647 88 156 21
3´UTR 1001 177 1046 192 934 166 1015 195 322 35
Exonic 1718 794 1744 802 1712 854 1667 795 225 75
Exonic, splicing 94 10 96 9 93 10 89 13 14 2