LDS2.vcf (65.14 MB)
LDS2.vcf
VCF file derived from project.NIST.hc.snps.indels.NIST7035.vcf.
A disease-associated mutation in the TGFBR2 gene (see Patient 4 in PMID:30101859) was spiked into the VCF file. The file is intended to be used to test gene prioritization software.