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. 2019 Mar 29;20:55. doi: 10.1186/s12881-019-0788-9

Table 2.

Variant Filtration Steps of sequencing and results of gene-based analysis

Filtration Steps Number of variants
1.SNVsa located in exonic/ splicing region 188
2. Nonsynonymous SNVs/ frameshift deletion/ stopgain 125
3. Variants judged as SIFT prediction = Damaging / unknown and PolyPhen-2 prediction = Possibly damaging/ Probably damaging/ Unknown 71
4. MAF < 0.05 in 1KGP(Chinese Han population) and GeneSky in-house Database 42
5.Variants with sequenced base depth > 10x 18
Result of RNF213 gene-based analysis
 MAF PWSS PSKAT PSKAT-O
  < 0.05 4.88 × 10−10 9.68 × 10−6 3.42 × 10−9
  < 0.01 4.56 × 10−12 2.80 × 10−6 3.20 × 10−11

aSNVs Single Nucleotide Variants