Table 4.
Detailed sequencing variants results
| Patient | Gene | Chromosome | HGVS DNA | HGVS protein | Variant type | COSMIC ID | VAF | Variant classification |
|---|---|---|---|---|---|---|---|---|
| 5 | SETD2 (NM_014159.6) | Chr 3:47162208 | c.3918G > A | p.(Trp1306*) | Nonsense | COSM5574965 | 16% | Tier 2 |
| 6 | SETD2 (NM_014159.6) | Chr 3:47164805 | c.1321C > T | p.(Arg441*) | Nonsense | COSM3736817 | 7% | Tier 2 |
| 6 | EPOR (NM_000121.3) | Chr 19:11488871 | c.1316G > A | p.(Trp439*) | Nonsense | - | 6% | Tier 2 |
| 7 | GATA1 (NM_002049.3) | Chr X:48649565 | c.49_50del | p.(Gln17Valfs*22) | Frameshift | COSM13216 | 59% | Tier 1 |
| 8 | GATA1 (NM_002049.3) | Chr X:48649735 | c.219delA | p.(Val74Serfs*63) | Frameshift | - | 95% | Tier 1 |
| 9 | GATA1 (NM_002049.3) | Chr X:48649666 | c.151_186delinsT | p.(Ser51Leufs*5) | Frameshift | COSM17631 | 42% | Tier 1 |
| 10 | GATA1 (NM_002049.3) | Chr X:48649520 | c.4dup | p.(Glu2Glyfs*38) | Frameshift | - | 73% | Tier 1 |
| 11 | GATA1 (NM_002049.3) | Chr X:48649689 | c.175_193dup | p.(Asp65Glyfs*9) | Frameshift | COSM6907368 | 10% | Tier 1 |
| 11 | RAD21 (NM_006265.2) | Chr 8:117878960 | c.9C > A | p.(Tyr3*) | Nonsense | COSM3663527 | 8% | Tier 2 |
| 12 | GATA1 (NM_002049.3) | Chr X:48649605 | c.89C > G | p.(Ser30*) | Nonsense | COSM17632 | 15% | Tier 1 |
| 12 | CTCF (NM_006565.3) | Chr 16:67660601 | c.1502_1503dupAT | p.(Tyr502Ilefs*10) | Frameshift | - | 7% | Tier 2 |
| 13 | GATA1 (NM_002049.3) | Chr X:48649633 | c.115_116ins64 | p.(Glu39Glyfs*22) | Frameshift | - | 30% | Tier 1 |
| 13 | CTCF (NM_006565.3) | Chr 16: 67662394 | c.1640_1650delinsT | p.(Asp547Valfs*34) | Frameshift | - | 17% | Tier 2 |
| 13 | SUZ12 (NM_015355.3) | Chr 17:30315465 | c.1150_1151delAG | p.(Leu385Profs*10) | Frameshift | - | 32% | Tier 2 |
| 14 | GATA1 (NM_002049.3) | Chr X:48649658 | c.142_149dup | p.(Ser51Leufs*89) | Frameshift | - | 16% | Tier 1 |
| 14 | GATA1 (NM_002049.3) | Chr X:48649675 | c.159_171dup | p.(Ala58Hisfs*14) | Frameshift | - | 38% | Tier 1 |
| 14 | JAK1 (NM_002227.3) | Chr 1:65309803 | c.2347C > T | p.(Leu783Phe) | Missense | COSM41758 | 6% | Tier 2 |
| 14 | SRSF2 (NM_003016.4) | Chr 17:74732959 | c.284C > G | p.(Pro95Arg) | Missense | COSM4385016 | 6% | Tier 2 |
| 15 | GATA1 (NM_002049.3) | Chr X:48649735 | c.219A > G | p.(Pro73Pro) | Splicing (predicted) | COSM17826 | 16% | Tier 1 |
| 15 | NRAS (NM_002524.4) | Chr 1:115258744 | c.38G > A | p.(Gly13Asp) | Missense | COSM573 | 17% | Tier 2 |
| 15 | PTPN11 (NM_002834.3) | Chr 12:112924286 | c.1232C > T | p.(Thr411Met) | Missense | COSM4038882 | 43% | Tier 2 |
Chromosome coordinates are based on the hg19 reference.
(HGVS) Human Genome Variation Society, (COSMIC) Catalogue of Somatic Mutations in Cancer, (VAF) variant allele frequency.