Ciliome dataset used for COBT: A gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts

The shared VCF file contains the final set of protein‑altering variants retained in COBT study after our complete filtering and annotation pipeline, which included restriction to high‑confidence coding regions (i.e., removal of blacklisted and low‑mappability loci) and selection of rare missense and protein‑truncating variants on APPRIS principal isoforms. To preserve patient confidentiality, all individual genotype data were removed and only variant‑level annotations are provided; in addition, preprocessing metadata (e.g., GATK and bcftools command lines) were stripped from the header to avoid exposing sample‑specific processing details. For each variant, the file reports standard VEP and quality metrics together with the allele count observed across the 478 studied patients (AC), which is sufficient to reproduce the rare‑variant burden analyses performed in this study.