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Table 3 Distribution of variant types

From: Whole-exome sequencing of a pedigree segregating asthma

Variant type1 All called variants Variants passed QC filters
EXONIC 32018 25278
UTR3 10106 4881
INTRONIC 4236 3428
UTR5 3387 2227
ncRNA_EXONIC 4164 1398
EXONIC_SPLICING 442 347
SPLICING 225 133
ncRNA_INTRONIC 179 90
ncRNA_UTR3 149 71
ncRNA_UTR5 39 21
UTR5_UTR3 8 7
ncRNA_SPLICING 31 6
UPSTREAM2 211 131
DOWNSTREAM2 113 60
INTERGENIC2 49 17
UPSTREAM_DOWNSTREAM2 13 8
Total 55,370 38,103
  1. 1Variant types as annotated by ANNOVAR [Abbreviations: UTR3 = 3’ Untranslated region; UTR5 = 5’ Untranslated region; ncRNA = non-coding RNA].
  2. 2Variants not considered to be within genes among all variants called (0.7%) and variant that passed the stringent QC filters (0.6%).