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. Author manuscript; available in PMC: 2019 Jun 20.
Published in final edited form as: Leukemia. 2018 Dec 20:10.1038/s41375-018-0340-5. doi: 10.1038/s41375-018-0340-5

Table 1. Cases with aUPD22 and/or mutations of PRR14L.

UPN aUPD22 Disorder PRR14L mutation (vaf) Additional mutations (vaf)
E2633 chr22:15685581-qter MPN-U exon4: c.5497C>T p.R1833* (0.90) CBL p.I383M (0.79)
ETV6 p.S47* (0.21)
GATA2 p.K390del (0.41)
PHF6 p.G10Rfs*12 (0.80)
U2AF1 p.Q157R (0.50)
E4051 chr22:16604328-qter CMML exon4: c.3081T>A p.C1027* (0.94) NRAS p.G12S (0.50)
ASXL1 p.Q748* (0.46)
GATA2 p.L386_E391del (0.24)
E5317 chr22:pter-qter CMML exon 4: c.2223_2236del p.E741Dfs*3 (0.95) NRAS p.G12S (0.49)
TET2 p.Q1603* (0.50)
RUNX1 p.L82Rfs*41 (0.47)
E5319 chr22:pter-qter CMML exon 4: c.1446delC p.H482Qfs*6 (0.95) EZH2 p.Y731D (0.46)
RUNX1 p.G122Qfs12 (0.46)
PTPN11 p.G503R (0.46)
E6526 chr22:31496485-qter MDS/MPN exon4: c.3489delA p.E1163Dfs*10 (0.75) EZH2 p.I109* (0.45)
TET2 p.K1208* (0.53)
TET2 p.N1610Kfs*4 (0.50)
E12759 chr22:23855603-qter MDS RAEB1 exon 9: c.6287delC p.P2096Rfs*33 (N/A) U2AF1 p.Q157P (0.33)
ULSAM1242 chr22:17000000-qter ARCH exon4: c.4561C>T p.Q1521* (0.58) None
ULSAM1182 chr22:24700000-qter ARCH exon4: c.4518delA p.H1507Mfs*12 (0.37) None
E3765 N/A CMML exon 4: c.4570C>T p.R1524* (0.47) NRAS p.G12D (0.38)
SETBP1 p.S869N (0.48)
E6353 N/A CMML exon 7: c.6084delC p.M2029Wfs*9 (0.93) ASXL1 p.T794Nfs*6 (0.44)
CSF3R p.E815* (0.44)
CSF3R p.T618I (0.40)
SRSF2 p.P95H (0.27)
TET2 p.K318Nfs*29 (0.45)
TET2 p.K318* (0.45)

vaf, variant allele frequency; N/A, not available