Whole exon sequencing-primary hypertrophic osteoarthropathy-2 (PHOAR2)

1.The subject’s consent for the study was obtained according to the Declaration of Helsinki and was approved by the ethical committee of the Shaoxing People’s Hospital.2.The WES was performed by Agilent SureSelect Human All Exon V6 kits and Illumina NovaSeq 6000 sequencing platform.3.The paired-end reads (PE150) were aligned to a Genome Reference Consortium Human Genome Build 37 (GRCh37)-derived alignment set including decoy sequences using the Burrows-Wheeler Aligner (BWA).

Singlenucleotide variants (SNV’s), small insertions and deletions (indels), and copy number variants were called with GATK Best Practices.4.The pathogenicity prediction of SLCO2A1 gene mutations was performed by online bioinformatics software SIFT, REVEL, Polyphen-2, LR pred, Mutation Taster, Ljb23_metasvm and dbscSNV.