Table 1. Additive and lost alterations common in three cases.
Added/Lost | Gene name | Chr | Position GRCh37 | COSMIC ID | Reference | Variant | Variant type | Codon change | Amino acid change | SNP effect |
---|---|---|---|---|---|---|---|---|---|---|
Added | MTOR | Chr1 | 11166624 | – | C | <DUP> | CNV | – | – | UTR 3 PRIME |
JAK1 | Chr1 | 65300216 | – | C | <DUP> | CNV | – | – | UTR 3 PRIME | |
NOTCH2 | Chr1 | 120457873 | – | T | <DUP> | CNV | – | – | UTR 3 PRIME | |
CSF1R | Chr5 | 149435535 | – | G | T | SNP | – | – | INTRON | |
Lost | MAP2K2 | Chr19 | 4090533 | – | G | <DUP> | CNV | – | – | UTR 3 PRIME |
Chr, chromosome; CNV, copy number variation; DUP, duplicate; SNP, single-nucleotide polymorphism; UTR, untranslated region.