Annotated BED files of SNVs in Whole Genome (WG) generated with VEP

These BED files represent Single Nucleotide Variants (SNVs) distributed across the entire human genome (whole genome – WG). The variants were extracted from publicly available VCF files and filtered according to allele frequency and clinical relevance. Only biallelic SNVs were retained. The annotation includes chromosome, genomic position, reference allele, alternate allele, and variant type. These files were generated as part of a broader study investigating the mutational landscape of the human genome and the co-occurrence of variants with different evolutionary origins and functional consequences.

File descriptions:

SNPs_WC.bed.gz: Common biallelic SNVs with allele frequency (AF) ≥ 1% in at least two of the seven global superpopulations from the Human Genome Diversity Project (HGDP).

rares_WG.bed.gz: Rare biallelic SNVs with allele frequency (AF) < 1% across all seven global superpopulations from the HGDP.

patho_WC.bed.gz: Clinically relevant SNVs from ClinVar with curated status and classified as pathogenic, associated with high-penetrance genetic diseases.

benign_WC.bed.gz: SNVs from ClinVar classified as benign or likely benign, with curated clinical significance.

cosmic_WC.bed.gz: Somatic SNVs from the COSMIC database, reported in tumor samples and associated with cancer.

These datasets aim to support further analysis and replication of our study findings.