WES analysis of 15 patients with PPBL and of UPN3 DLBCL
| Unique patient No. . | HUGO symbol . | Chromosomic localization . | NM . | Mutation . | Type of single nucleotide variant . | VAF (%) . | COSMIC . | % VAF in UPN3 PPBL sample . | No. of variant- supporting reads/depth . |
|---|---|---|---|---|---|---|---|---|---|
| UPN2 | No mutation | — | — | — | — | — | — | ||
| UPN3 | OR4C11 | 11q11 | NM_001004700 | c.G503T:p.G168V | Nonsynonymous | 2.7 | No | ||
| UPN5 | No mutation | — | — | — | — | — | — | ||
| UPN6 | RNF40 | 16p11.2 | NM_001207034 | c.C1510T:p.R504X | Stopgain | 4.6 | No | ||
| MYD88 | 3p22.2 | NM_001172568 | c.G514T:p.V172F | Nonsynonymous | 2.2 | 3 occurrences | |||
| UPN7 | No mutation | — | — | — | — | — | — | ||
| UPN8 | No mutation | — | — | — | — | — | — | ||
| UPN9 | TET2 | 4q24 | NM_001127208 | c.3410-2A>C | Splice site | 5.1 | 1 occurrence | ||
| UPN11 | No mutation | — | — | — | — | — | — | ||
| UPN12 | No mutation | — | — | — | — | — | — | ||
| UPN13 | No mutation | — | — | — | — | — | — | ||
| UPN14 | No mutation | — | — | — | — | — | — | ||
| UPN15 | No mutation | — | — | — | — | — | — | ||
| UPN17 | No mutation | — | — | — | — | — | — | ||
| UPN18 | No mutation | — | — | — | — | — | — | ||
| UPN20 | No mutation | — | — | — | — | — | — | ||
| UPN3 DLBCL | CPSF3L | 1p36.33 | NM_017871 | c.G128A:p.R43Q | Nonsynonymous | 23.4 | — | 0 | 0/144 |
| KIF14 | 1q32.1 | NM_001305792 | c.C462A:p.N154K | Nonsynonymous | 24.4 | — | 0 | 0/175 | |
| IFIT2 | 10q23.31 | NM_001547 | c.1247dupA:p.Q416fs | Frameshift insertion | 29.4 | — | 0 | 0/352 | |
| ATE1 | 10q26.13 | NM_007041 | c.G975T:p.Q325H | Nonsynonymous | 26.3 | — | 0 | 0/185 | |
| C10orf88 | 10q26.13 | NM_024942 | c.401dupA:p.N134fs | Frameshift insertion | 27.7 | 1 occurrence | 0 | 0/75 | |
| KMT2D | 12q13.12 | NM_003482 | c.G14080T:p.E4694X | Stopgain | 29.8 | — | 0.2 | 1/561 | |
| AJUBA | 14q11.2 | NM_001289097 | c.C1097A:p.S366X | Stopgain | 25.2 | — | 0 | 0/162 | |
| MYBL2 | 20q13.12 | NM_001278610 | c.A353G:p.E118G | Nonsynonymous | 22 | — | 0 | 0/186 | |
| LNX1 | 4q12 | NM_032622 | c.C907T:p.R303C | Nonsynonymous | 7.7 | 1 occurrence | 0.7 | 2/284 | |
| LAMA2 | 6q22.33 | NM_000426 | c.C5404T:p.R1802C | Nonsynonymous | 27 | 1 occurrence | 0.3 | 1/360 | |
| FLNC | 7q32.1 | NM_001127487 | :c.G6859A:p.G2287R | Nonsynonymous | 29 | — | 0 | 0/202 |
| Unique patient No. . | HUGO symbol . | Chromosomic localization . | NM . | Mutation . | Type of single nucleotide variant . | VAF (%) . | COSMIC . | % VAF in UPN3 PPBL sample . | No. of variant- supporting reads/depth . |
|---|---|---|---|---|---|---|---|---|---|
| UPN2 | No mutation | — | — | — | — | — | — | ||
| UPN3 | OR4C11 | 11q11 | NM_001004700 | c.G503T:p.G168V | Nonsynonymous | 2.7 | No | ||
| UPN5 | No mutation | — | — | — | — | — | — | ||
| UPN6 | RNF40 | 16p11.2 | NM_001207034 | c.C1510T:p.R504X | Stopgain | 4.6 | No | ||
| MYD88 | 3p22.2 | NM_001172568 | c.G514T:p.V172F | Nonsynonymous | 2.2 | 3 occurrences | |||
| UPN7 | No mutation | — | — | — | — | — | — | ||
| UPN8 | No mutation | — | — | — | — | — | — | ||
| UPN9 | TET2 | 4q24 | NM_001127208 | c.3410-2A>C | Splice site | 5.1 | 1 occurrence | ||
| UPN11 | No mutation | — | — | — | — | — | — | ||
| UPN12 | No mutation | — | — | — | — | — | — | ||
| UPN13 | No mutation | — | — | — | — | — | — | ||
| UPN14 | No mutation | — | — | — | — | — | — | ||
| UPN15 | No mutation | — | — | — | — | — | — | ||
| UPN17 | No mutation | — | — | — | — | — | — | ||
| UPN18 | No mutation | — | — | — | — | — | — | ||
| UPN20 | No mutation | — | — | — | — | — | — | ||
| UPN3 DLBCL | CPSF3L | 1p36.33 | NM_017871 | c.G128A:p.R43Q | Nonsynonymous | 23.4 | — | 0 | 0/144 |
| KIF14 | 1q32.1 | NM_001305792 | c.C462A:p.N154K | Nonsynonymous | 24.4 | — | 0 | 0/175 | |
| IFIT2 | 10q23.31 | NM_001547 | c.1247dupA:p.Q416fs | Frameshift insertion | 29.4 | — | 0 | 0/352 | |
| ATE1 | 10q26.13 | NM_007041 | c.G975T:p.Q325H | Nonsynonymous | 26.3 | — | 0 | 0/185 | |
| C10orf88 | 10q26.13 | NM_024942 | c.401dupA:p.N134fs | Frameshift insertion | 27.7 | 1 occurrence | 0 | 0/75 | |
| KMT2D | 12q13.12 | NM_003482 | c.G14080T:p.E4694X | Stopgain | 29.8 | — | 0.2 | 1/561 | |
| AJUBA | 14q11.2 | NM_001289097 | c.C1097A:p.S366X | Stopgain | 25.2 | — | 0 | 0/162 | |
| MYBL2 | 20q13.12 | NM_001278610 | c.A353G:p.E118G | Nonsynonymous | 22 | — | 0 | 0/186 | |
| LNX1 | 4q12 | NM_032622 | c.C907T:p.R303C | Nonsynonymous | 7.7 | 1 occurrence | 0.7 | 2/284 | |
| LAMA2 | 6q22.33 | NM_000426 | c.C5404T:p.R1802C | Nonsynonymous | 27 | 1 occurrence | 0.3 | 1/360 | |
| FLNC | 7q32.1 | NM_001127487 | :c.G6859A:p.G2287R | Nonsynonymous | 29 | — | 0 | 0/202 |
COSMIC, Catalogue of Somatic Mutations in Cancer; HUGO, Human Genome Organisation; NM, messenger RNA transcript.