Table 3.
Molecular Alterations identified in LOT Cases in the Cohort
| Patient ID | Genomic ID | Chromosome | Start Position | End Position | Reference Sequence | Tumor Sequence | Matched Normal Sequence | Gene | Variant_Classification | Validation_Method* | Somatic_Mutation* | Amino Acid Alteration |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LOT 1 | XP238T | chr1 | 11114338 | 11114338 | A | T | A | MTOR | nonsynonymous SNV | Prior | NM_004958.3:c.7280 A>T | p.Leu2427Gln |
| LOT 2 | 17827T | chr1 | 11124516 | 11124516 | G | T | G | MTOR | nonsynonymous SNV | Prior | NM_004958.3:c.6644G>T | p.Ser2215Tyr |
| LOT 3a | KC02816-T1-FFPE | chr9 | 132902719 | 132902719 | A | AGCTT | A | TSC1 | frameshift substitution | Sangers | NM_000368.4:c.2273_2276dup | p.Arg760Serfs*2 |
| LOT 4 | KC02129-T1-FFPE | chr7 | 151490963 | 151490964 | TA | AG | TA | RHEB | nonsynonymous SNV | Sangers | NM_005614.3:c.103_104delinsCT | p.Tyr35Leu |
| LOT 5 | KC02942-T2-FFPE | chr1 | 11114380 | 11114381 | CT | AG | CT | MTOR | nonsynonymous SNV | Sangers | NM_004958.3:c.7237_7238delinsCT | p.Ser2413Leu |
| LOT 6 | KC00627-T1-FFPE | chr1 | 11157255 | 11157267 | ACTCGTGCAGTTT | A | not available | MTOR | nonframeshift substitution | Sangers | NM_004958.3:c.4354_4365del | p.Lys1452_Glu1455del |
| LOT 7 | Not pass quality check | not available | not available |
*
somatic mutation were confirmed by Sanger