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Table 1 Damaging and tolerated variant sets

From: PaPI: pseudo amino acid composition to score human protein-coding variants

 

Damaging (HGMD)

Tolerated (1TGP + ESP)

# initial variants

176523

65377

- # SYN

1333

36546

- # FR/SC/SD

77627

929

# final variants

97653

27902

  1. Damaging and tolerated sets after synonymous-SNVs and frameshift, stop-causing and stop-disrupting variants removal. An instance of the data set is the coding variant relative to the transcript to which overlaps. SYN = synonymous, FR = frameshift, SC = stop-causing, SD = stop-disrupting.
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BMC Bioinformatics

ISSN: 1471-2105

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