Table 1 Number of polymorphisms according to the functional class.
Functional classes | Number of SNPs | Number of INDELs |
|---|---|---|
Intergenic_variant | 21,410,958 | 2,636,117 |
Intron_variant | 11,562,722 | 1,502,267 |
Upstream_gene_variant | 1,230,057 | 166,009 |
Downstream_gene_variant | 1,067,441 | 147,044 |
Synonymous_variant | 147,554 | — |
Missense_variant | 115,659 | — |
3_prime_UTR_variant | 116,522 | 18,607 |
5_prime_UTR_variant | 43,248 | 5,924 |
Non_coding_transcript_exon_variant | 32,885 | 3,310 |
Splice_region_variant | 22,554 | 3,435 |
Stop_gained | 1,975 | 214 |
Splice_donor_variant | 730 | 333 |
Splice_acceptor_variant | 476 | 294 |
Start_lost | 412 | 13 |
Stop_lost | 244 | 9 |
Mature_miRNA_variant | 139 | 25 |
Stop_retained_variant | 128 | 9 |
Non_coding_transcript_variant | 2 | 3 |
Coding_sequence_variant | 1 | 49 |
Frameshift_variant | — | 6,113 |
Inframe_deletion | — | 1,568 |
Inframe_insertion | — | 1,176 |
Protein_altering_variant | — | 107 |
Transcript_ablation | — | 10 |
Total | 35,753,707 | 4,492,636 |
