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Table 2 Number of variants obtained using different filters in subjects affected by splenic epidermoid cyst from Kosovo

From: Genome-wide linkage and exome analyses identify variants of HMCN1for splenic epidermoid cyst

Criteria for variants filtering Kos-1 Kos-2 Kos-3 Kos-4
Total (Exonic, Splicing) 14817 14427 14783 14277
SNVs (NS, SC) 6701 6562 6734 6526
Not in dbSNP or 1000 Genomes (novel) 239 191 245 258
Up to 2% in 1000 Genomes 368 378 358 323
INDELs (FS, non-FS) 29 47 42 58
Not in dbSNP or 1000 Genomes (novel) 27 44 40 58
Up to 2% in 1000 Genomes 0 0 0 0
  1. Exonic and splicing site variants were filtered based on being single nucleotide variants (SNVs) including non-synonymous (NS) and stop codon (SC) variants, while insertion/deletion (INDELs) including frame-shift (FS) and non-frame-shift (non-FS) variants. Novel variants were those not reported in dbSNP database (dbSNP 137) and rare variants filter is based on the European allele frequencies data from 1000 Genomes database.