Fig. 3

The summary tab contains a comprehensive report of potential causative variants discovered in the analysis. The report is interactive and can perform dynamic filtering and sorting upon any data field. Columns containing adjacent data in the rows above or below are merged for conciseness. Toggling the column headers sorts the data in that field in ascending/descending order, and the search bar can be used to isolate variants of interest such as those which cause missense mutations, or variants existing in promoter regions. Gene isoforms can be filtered in or out by using the “ISO” or “REF” keyword, respectively. Pedigrees can be quickly viewed by hovering over the Show Pedigrees button above the Cases and Controls column headers, each of which display the presence and zygosity of the variant in sample individuals, with striped colouring for heterozygous and solid colouring for homozygous. Presented are the same 4 individuals from Fig. 2, showing compound-heterozygous mutations in PMM2. Note, the promoter mutation is located within a bidirectional promoter region (i.e. PMM2/TMEM186)