In Table 1, the first variant is a SNV, with a substitution of C in the reference genome to T. The second variant is a single-base insertion, since the reference nucleotide in the reference genome is represented by ‘−’. The third variant is a single-base deletion, with the observed nucleotide being represented by ‘−’. The fourth variant is a block substitution, but the reference allele is represented by ‘0’, eliminating the need to provide this allele explicitly on this line. The last variant is a deletion that spans several nucleotides.
