Table 1.
Genomic loci captured and analyzed by the Karyogene platform
| I. Coding mutations in 49 genes | |||||
|---|---|---|---|---|---|
| Gene ID | Chromosome | Position (Mb)* | Gene ID | Chromosome | Position (Mb)* |
| MSTP9 | 1 | 17.1 | WT1 | 11 | 32.4 |
| NRAS | 1 | 115.2 | MLL | 11 | 118.3 |
| DNMT3A | 2 | 25.5 | CBL | 11 | 119.1 |
| DDX18 | 2 | 118.5 | ETV6 | 12 | 11.8 |
| SF3B1 | 2 | 198.2 | KRAS | 12 | 25.4 |
| IDH1 | 2 | 209.1 | PTPN11 | 12 | 112.9 |
| CBLB | 3 | 105.3 | FLT3 | 13 | 28.6 |
| GATA2 | 3 | 128.1 | DIS3 | 13 | 73.3 |
| MUC4 | 3 | 195.4 | IDH2 | 15 | 90.6 |
| KIT | 4 | 55.5 | CREBBP | 16 | 3.7 |
| TET2 | 4 | 106.1 | TP53 | 17 | 7.6 |
| DDX4 | 5 | 55 | NF1 | 17 | 29.4 |
| CSF1R | 5 | 149.4 | SRSF2 | 17 | 74.7 |
| NPM1 | 5 | 170.8 | MUC16 | 19 | 8.9 |
| DAXX | 6 | 33.2 | CEBPA | 19 | 33.8 |
| ZAN | 7 | 100.3 | ASXL1 | 20 | 30.9 |
| EZH2 | 7 | 148.5 | PTPRT | 20 | 40.7 |
| CSMD1 | 8 | 2.8 | RUNX1 | 21 | 36.1 |
| RAD21 | 8 | 117.8 | U2AF1 | 21 | 44.5 |
| JAK2 | 9 | 49.8 | BCOR | X | 39.9 |
| PRUNE2 | 9 | 79.2 | KDM6A | X | 44.7 |
| WAC | 10 | 28.8 | SMC1A | X | 53.4 |
| PTEN | 10 | 89.6 | STAG2 | X | 123.1 |
| SMC3 | 10 | 112.3 | PHF6 | X | 133.5 |
| NUP98 | 11 | 3.7 | |||
| II. Chromosomal rearrangements | III. Copy number and zygosity changes | ||||
| PML-RARA | t(15:17) | Genome-wide polymorphic SNPs (n = 9111) with | |||
| CBFB-MYH11 | inv(16) | MAF 0.40 to 0.45 in 3 continental cohorts | |||
| RUNX1-RUNXT1 | t(8;21) | ||||
| MLL fusions | 11q23 rearrangements | ||||
*
CRCh37/hg19.