Table 1. The consequence of LUDLU-1 somatic substitutions.
Consequence/Type | Variants | Transcripts affected | Genes affected |
STOP_LOST | 1 | 2 | 1 |
STOP_GAINED | 3 | 4 | 3 |
UPSTREAM (5′+5 kb) | 2100 | 3090 | 1749 |
DOWNSTREAM (3′+5 kb) | 2202 | 3140 | 1822 |
SYNONYMOUS_CODING | 52 | 149 | 44 |
NON_SYNONYMOUS_CODING | 106 | 267 | 89 |
SPLICE_SITE 1–3 bps into an exon or 3–8 bps into an intron | 19 | 48 | 21 |
ESSENTIAL_SPLICE_SITE First or last 2 bps of an intron | 6 | 29 | 6 |
3′UTR | 137 | 229 | 126 |
5′UTR | 47 | 70 | 43 |
INTRONIC | 11021 | 15822 | 4109 |
INTERGENIC | 17642 | NA | NA |