Exclusion criteria
  1. those predicted as tolerant using MetaSVM (meta-analytic support vector machine (SVM)) and MetaLR which accommodate multiple omics data to detect consensus genes associated with disease, were excluded. In other words, those variants predicted to be damaging by more than one prediction tool was considered.
  2. In sorting the known phenotype, variants in gene with completely unmatched OMIM phenotypes were excluded.
  3. Proximal splice site variants placed at >8 nucleotides away from exon were also excluded.
  4. Variants in zinc finger encoding genes were excluded as they have very omnipresent role.