Fig. 5

Visualization of the three potential nucleotide substitutions at each position in the genome, each with their own predicted pCADD score. To visualize pCADD scores in JBrowser, we created tracks for the maximum, median and minimum scores at each position. The fourth track displays the standard deviation among the three scores to identify more easily sites of variable deleteriousness. The yellow vertical bar is located at position 5:14463457, indicating the site of the top scoring SNV in Table 5. This SNV is considered intergenic according to the Ensembl gene build but located within a lncRNA according to the NCBI genebuild. a NCBI gene build track, showing the genomic region belonging to lncRNA LOC102160723. b–d the maximum, median and minimum pCADD scores for each position in the displayed region. e The standard deviation of pCADD scores at each position