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