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. 2019 Jun 18;6:28. doi: 10.1038/s41439-019-0059-5

Table 2.

Overview of outliers found in allele frequency comparison plots

Position Ref/Alt 3.5KJPNv2 gnomAD EAS Possible reason
Fig. 2a–(i) 3259463 G/T 0.6337 1.0000 Unknown
25452223 T/C 0.3705 0.8483 Low complexity region
35283958 T/C 0.6488 1.0000 Low complexity region
88051052 T/C 0.5943 1.0000 Unknown
166721424 C/T 0.4401 0.8750 Unknown
Fig. 2a–(ii) 32609253 G/A 0.5351 0.0777 HLA region (HLA-DQA1)
(15 SNVs omitted)
32629146 G/A 0.5370 0.0037
Fig. 2a–(iii) 32609379 C/T 0.7194 0.2405 HLA region (HLA-DQB1)
32610825 A/G 0.7245 0.2357
32629257 T/A 0.7793 0.2308
32629161 A/G 0.7201 0.0683
32629193 C/T 0.7211 0.0293
32629247 A/C 0.7171 0.0157
Position Ref/Alt 3.5KJPNv2 RIKEN Possible reason
Fig. 2b–(iv) 93743452 A/T 0.3535 0.1842 Unknown (gnomAD EAS = 0.3532)

(a) Summary of outliers in Fig. 3(a). The “Position” column shows the chromosomal position of a variant, the “Ref/Alt” column gives the reference allele and the alternative allele, the “3.5KJPNv2” column gives the allele frequency observed in 3.5KJPNv2, and the “gnomAD EAS” column gives the allele frequency observed in gnomAD EAS

(b) Summary of outliers found in Fig. 3b

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