Table 2.
Case | Gene | Mutation Type | CNV | Exon | AA Changes | SIFT Prediction | H3K36me3 IHC | COSMIC ID |
---|---|---|---|---|---|---|---|---|
1 | SETD2 | Inflame indel | NA | exon 20 | p.Phe2481-Gln2484del | Probably damaging | Negative | None |
JAK3 | Missense | NA | exon 13 | p.Ala573Val | Damaging | - | COSM34215(17) | |
2 | SETD2 | Frameshift indel | Normal | exon 20 | p.Tyr2489Trpfs*6 | Probably damaging | Negative | None |
JAK1 | Missense | Normal | exon 22 | p.Lys1026Glu | Probably damaging | - | None | |
3 | SETD2 | Missense | Normal | exon 7 | p.Cys1631Phe | Incertain | Negative | None |
JAK3 | Missense | Normal | exon 13 | p.Ala573Val | Damaging | - | COSM34215(17) | |
STAT5B | Missense | Normal | exon 18 | p.Val712Glu | Damaging | - | COSM5414165(1) | |
4 | SETD2 | Missense | Loss | exon 20 | p.Leu2486Arg | Probably damaging | Negative | None |
JAK1 | Missense | Normal | exon 15 | p.Ser703Ile | Damaging | - | COSM305942(10) | |
TP53 | Missense | Normal | exon 7 | p.Gly244Asp | Damaging | - | COSM10735(43) | |
5 | SETD2 | Substitution (intron) | Normal | exon 5 | - | Probably damaging | Negative | None |
JAK3 | Splicing | Normal | exon 20 | - | Incertain | - | None | |
Missense | exon 13 | p.Ala573Val | Damaging | - | None | |||
STAT5B | Missense | Normal | exon 16 | p.Asn642His | Damaging | - | COSM1716590(29) | |
6 | SETD2 | WT | Loss | - | - | - | Positive | None |
JAK3 | Missense | Normal | exon 11 | p.Met511Ile | Probably damaging | - | COSM51374(29) | |
7 | SETD2 | Splicing | NA | exon 1 | - | Probably damaging | Negative | None |
Splicing | exon 6 | - | Probably damaging | None | ||||
JAK1 | Missense | NA | exon 17 | p.Leu783Phe | Probably damaging | - | COSM41758(5) | |
JAK3 | Missense | NA | exon 15 | p.Val674Ala | Probably damaging | - | COSM327317(7) | |
8 | SETD2 | WT | Loss | - | - | - | Negative | None |
JAK1 | Missense | Normal | exon 15 | p.Ser703Cys | Incertain | - | None | |
JAK3 | Missense | Normal | exon 15 | p.Val674Ala | Probably damaging | - | COSM327317(7) | |
PIK3CD | Missense | Normal | exon 8 | p.Met339Lys | Incertain | - | None | |
TP53 | Missense | Normal | exon 10 | p.Arg337His | Probably damaging | - | None | |
9 | SETD2 | Missense | Loss | exon 11 | p.Ser1769Tyr | Incertain | Negative | None |
STAT5B | Missense | Normal | exon 16 | p.Asn642His | Damaging | - | COSM1716590(29) | |
ATM | Missense | Normal | exon 19 | p.Pro960His | Incertain | - | None |
The data of CNV are from reference [15]. Abbreviations: CNV, copy number variation; COSMIC, Catalogue of Somatic Mutation in Cancer; NA, not analysed.