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README.md = Readme file Probe_Selection.py = Script to get bucketed eligible variants Panel_genes.txt = curated list of external gene panels capture_sequence_probes.tsv = output file from Probe_Selection.py for CapSeq nanoString_probes.tsv = output file from Probe_Selection.py for NanoString capture_sequence_probes_manual_review.xls = manually reviewed cap_seq probes

Exons_for_tiling.py = script to pull exons and create list ENST_to_be_tiled = Representative ENST ID derived from capture_sequence_probes.tsv ENSG_all_genes.txt = Derived from BioMart from Representative ENST IDs above ENST_all_transcripts.txt = All ENSTs from the ENST genes derived above ENST_protein_coding.txt = All ENST IDs that are labeled ‘protein coding’ all_exons.bed = all exons from all protein coding transcripts all_exons_merged.bed = all exons from all protein coding transcripts merged using bedtools