Fig. 2

A typical route for a QueryOR investigation starts with the selection of criteria (Q1); a ranked list of genes and variants is returned in Q2. The selection of a gene, for instance FUCA2, leads to page Q3 where variants and affected transcripts in their genomic context are shown. The black track at the top of Q3 shows the target regions of exome capturing. The blue tracks just below show that the analysis was done on two samples named APN and APM, that share a heterozygous variant (white circles). The yellow boxes report the positions specified in the optionally uploaded BED file, indicating for instance low coverage regions. The bottom part of Q3 shows two alternative transcripts where the same variant in one case is located in an exon, generating a missense substitution (dark blue circle) while in the other case is located in an intron (gray circle). By clicking on a transcript of Q3, the system returns Q4, where several transcript features are directly linked to external resources, as well as to the variant overview page (Q5). For a full list of symbols used in Q3, see Fig. 3. A more detailed description of the entire process is given in the main text