Fig. 2

Analysis of position chr20:31,022,442 with BBCAnalyzer. Relative number of reads (one bar plot per position; marked 20% threshold): UPN1 and UPN4 feature an inserted G in almost 30% of the reads, while samples UPN2, UPN3 and UPN5 feature no significant difference between the number of reads containing a deletion and the number of reads containing an insertion. Thus, only samples UPN1 and UPN4 are likely to feature the mutation chr20:31,022,441 A >AG