Suppl. TableS7
The driver mutation and co-morbid inherited coding variants (benign,
variant of unknown significance [VOUS], or pathogenic) and
non-coding variants conserved among at least 4 of 7 vertebrates
(ultra-conserved). Co-occurring damaging coding findings (see below) are
listed as potential modifier variants using the longest transcript for
uniform numbering. For effects on overlapping transcripts see Suppl.
TablesS8-13, column AL. Justifications for assertions of coding region
pathogenicity incorporate the principal accepted guidelines in (Richards
et al., 2015) for a simple autosomal dominant disorder with high
penetrance. Variants with an allele frequency greater than 1:10,000 (the
live birth incidence of HPE in the newborn nursery) were annotated by an
asterix (*) interpreted as likely of minor effect. Potential modifiers
were not filtered by allele frequency. However, variants with a Minor
Allele Frequency >1% were omitted from the analysis.
Similarly, non-coding co-morbid variants scored as >4 (see
below) are also annotated as potential modifier loci.