LEGENDS OF FIGURES
Figure 1: Workflow of the exome sequencing analysis. Variants
were filtered according to quality (Phred score >20, read
depth >10, variant allele frequency >35%);
coding and noncoding variants were separately analyzed; frequency
(GnomAD, ABraOM, 1K Genomes); the effect on coding variants (frameshift,
stop loss/gain, missense, splice site, nonsense); for missense variants,
the prediction of pathogenicity in at least 5 out of 6 algorithms; HPO
annotation (hepatoblastoma, abnormalities of the liver, and cancer). The
filtered variants were visually examined using Integrative Genomics
Viewer (IGV) software (http//www.broadinstitute.org/igv) to further
filter out possible strand bias and homopolymeric region artifacts. All
the filtered variants mapped to cancer predisposition genes were
annotated using the ACMG guidelines. 1- Intronic variants, 3’UTR, 5’UTR;
2- MAF: GnomAD, ABraOM, 1K Genomes; 3- Frameshift, stop loss, stop gain,
missense, splice site, nonsense variants; 4- Missense variants with
dbNSFP Functional Prediction of pathogenicity in at least 5 out of 6
algorithms; 5- Terms used for Varelect and HPO annotation:
Hepatoblastoma, abnormalities of the liver, and cancer. CNV - copy
number variation, ROH - region of homozygosity, MAF – maximum allele
frequency, CPG – cancer predisposition gene, VUS – variant of
uncertain significance, HPO - Human Phenotype Ontology, HB -
hepatoblastoma.