Table 2

Exome sequencing quality and summary of rare homozygous and de novo variants

TrioCoverage probandCoverage motherCoverage fatherRare homoX-linkedCpd hetsde novosVariants of interest
Captured regions with coverage >10 (%)Average coverage captured regionsCaptured regions with coverage >10 (%)Average coverage captured regionsCaptured regions with coverage >10 (%)Average coverage captured regionsConfirmed by Sanger sequencing/TaqManNot confirmed but high coverage, good quality alignment
189.811590.196490.596525170EFTUD2 i-eZPF90 NS, TMEM175 SEFTUD2
288.96387.56088.3758692noneNGLY1
388.25885.24886.2945960SMAD4 NSNTSR1 NS, AC121493.1 NSSMAD4
491.58088.347290.857315NA0AT6AP2 NSEFEMP1
590.16490.677191.02677NA1TCFA NSRBM43 NSTCFA
688.96087.1810289.07611660HNRNPU ESSSMAD1, NSHNRNPU, SMAD1
787.36889.758790.3394780EFTUD2 FSEFTUD2
885.95589.728192.39106340None
989.35780.6810085.636036NA0ZNF266 S, C12OR51 NS, SAMD13 FSNone
1090.87290.596878.3783650MAST1 NS
1191.68889.546789.2271851SCN2A NSTBC1D1 NSSCN2A
1291.07790.616890.33714NA0NR1H3 NS, AP4M1 inNone
  • 1=percentage of captured regions with coverage>5; 2=average coverage captured regions (x); NS, non-synonymous, S, synonymous; i-e, intron-exon boundary; in, intronic variant; FS, frameshift variant; ESS, change in essential splice site.