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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%).
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BMC Medical Genetics

ISSN: 1471-2350

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