Recurrent GVs and their distribution in patients with MM and WM
| . | Chromosomal location . | Nucleotide change . | AA changes . | Type of GVs . | Recurrence of GVs in MM and WM* . |
|---|---|---|---|---|---|
| Tumor specific GVs | |||||
| Exon 3 | 56912068 | a>T | Tyr>Phe | 1TS | 2 WM |
| Exon 3 | 56912051 | t>A | Cys>Ser | 2TS | 1 MM and 1 WM |
| Intron 3 | 56911759† | a>T | 3TS | 1 WM | |
| Intron 3 | 56911759† | a>G | 3TS | 1 WM | |
| Intron 4 | 56909899 | a>G | 4TS | 2 WM | |
| Intron 4 | 56909573 | del.-c | 5TS | 1 MM and 1 WM | |
| Intron 4 | 56909521 | t>C | 6TS | 1 MM and 1 WM | |
| Intron 4 | 56909482 | t>C | 7TS | 2 WM | |
| Hematopoietic origin GVs | |||||
| Exon 3 | 56912079 | t>C | Ala>Ala | 1HO | 2 MM and 1 WM |
| Exon 3 | 56912077 | g>A | Cys>Try | 2HO | 1 MM and 1 WM |
| Intron 3 | 56911668 | a>G | 3HO | 2 WM | |
| Exon 4 | 56911348 | g>C | Arg>Pro | 4HO | 1 MM and 3 WM |
| Exon 4 | 56911346 | a>T | Met>Leu | 5HO | 1 MM and 3 WM |
| Intron 4 | 56910198 | a>C | 6HO | 2 MM | |
| Intron 4 | 56910041 | g>T | 7HO | 1 MM and 4 WM | |
| Intron 4 | 56909423 | t>C | 8HO | 2 MM | |
| Intron 4 | 56909270 | a>G | 9HO | 1 MM and 1 WM | |
| Intron 4 | 56909186 | a>G | 10HO | 2 MM | |
| Germline origin | |||||
| Exon 3 | 56912080 | c>T | Ala>Val | 1GO | 1 MM and 1 WM |
| Exon 3 | 56912058 | t>C | Cys>Cys | 2GO | 1 MM and 1 WM |
| Exon 3 | 56912056 | t>C | Val>Ala | 3GO | 3 MM and 1 WM |
| Exon 3 | 56912051 | t>C | Cys>Arg | 4GO | 3 MM and 1 WM |
| Exon 3 | 56912041 | g>A | Gly>Asp | 5GO | 1 MM and 1 WM |
| Intron 3 | 56911526 | g>A | 6GO | 2 WM | |
| Intron 4 | 56910856 | t>C | 7GO | 1 MM and 1 WM | |
| Intron 4 | 56910811 | a>G | 8GO | 2 WM | |
| Intron 4 | 56910410 | a>G | 9GO | 2 MM | |
| Intron 4 | 56910219 | a>G | 10GO | 2 MM | |
| Intron 4 | 56909762 | ins(Ts) | 11GO | 6 MM and 7 WM | |
| Intron 4 | 56909764 | ins (Ts) | 12GO | 3 MM and 2 WM | |
| Intron 4 | 56909589 | del or ins (T)s | 13GO | 7 MM and 7 WM | |
| Intron 4 | 56909447 | del or ins (TTTA)s | 14GO | 6 MM and 5 WM | |
| Intron 4 | 56909315 | c>T | 15GO | 4 MM | |
| Intron 4 | 56909217 | c>T | 16GO | 4 MM and 1 WM | |
| Hematopoietic/germline origin | |||||
| Exon 3 | 56912197 | a>G | Asp>Gly | 1H/G | 1 MM and 1 WM |
| Intron 3 | 56911983 | a>G | 2H/G | 2 MM | |
| Intron 3 | 56911977 | a>G | 3H/G | 1 MM and 1 WM | |
| Intron 4 | 56910790 | a>C | 4H/G | 2 WM | |
| Intron 4 | 56909253 | g>A | 5H/G | 2 WM | |
| NCBI-SNPs | |||||
| Exon 3 | 56912163 | c>T | Asp>Asp | rs 11084111 | 7 MM and 2 WM |
| Intron 3 | 56911889 | g>A | rs 11084110 | 8 MM and 2 WM | |
| Intron 3 | 56911831 | g>A | rs 11084109 | 8 MM and 7 WM | |
| Intron 3 | 56911750 | t>A | rs 11669079 | 8 MM and 7 WM | |
| Intron 4 | 56910770 | g>C | rs 11667974 | 3 MM and 1 WM | |
| Intron 4 | 56910738 | t>G | rs 11667949 | 8 MM and 7 WM | |
| Intron 4 | 56910711 | g>A | rs 7254072 | 8 MM and 7 WM | |
| Intron 4 | 56910493 | g>C | rs 4802850 | 4 MM and 3 WM | |
| Intron 4 | 56910155 | c>A | rs 4802849 | 5 MM and 4 WM | |
| Intron 4 | 56910154 | c>G | rs 4802848 | 5 MM and 4 WM | |
| Intron 4 | 56909763 | c>T | rs 8104157 | 8 MM and 7 WM | |
| Intron 4 | 56909604 | ins T | rs 11438660 | 8 MM and 7 WM | |
| . | Chromosomal location . | Nucleotide change . | AA changes . | Type of GVs . | Recurrence of GVs in MM and WM* . |
|---|---|---|---|---|---|
| Tumor specific GVs | |||||
| Exon 3 | 56912068 | a>T | Tyr>Phe | 1TS | 2 WM |
| Exon 3 | 56912051 | t>A | Cys>Ser | 2TS | 1 MM and 1 WM |
| Intron 3 | 56911759† | a>T | 3TS | 1 WM | |
| Intron 3 | 56911759† | a>G | 3TS | 1 WM | |
| Intron 4 | 56909899 | a>G | 4TS | 2 WM | |
| Intron 4 | 56909573 | del.-c | 5TS | 1 MM and 1 WM | |
| Intron 4 | 56909521 | t>C | 6TS | 1 MM and 1 WM | |
| Intron 4 | 56909482 | t>C | 7TS | 2 WM | |
| Hematopoietic origin GVs | |||||
| Exon 3 | 56912079 | t>C | Ala>Ala | 1HO | 2 MM and 1 WM |
| Exon 3 | 56912077 | g>A | Cys>Try | 2HO | 1 MM and 1 WM |
| Intron 3 | 56911668 | a>G | 3HO | 2 WM | |
| Exon 4 | 56911348 | g>C | Arg>Pro | 4HO | 1 MM and 3 WM |
| Exon 4 | 56911346 | a>T | Met>Leu | 5HO | 1 MM and 3 WM |
| Intron 4 | 56910198 | a>C | 6HO | 2 MM | |
| Intron 4 | 56910041 | g>T | 7HO | 1 MM and 4 WM | |
| Intron 4 | 56909423 | t>C | 8HO | 2 MM | |
| Intron 4 | 56909270 | a>G | 9HO | 1 MM and 1 WM | |
| Intron 4 | 56909186 | a>G | 10HO | 2 MM | |
| Germline origin | |||||
| Exon 3 | 56912080 | c>T | Ala>Val | 1GO | 1 MM and 1 WM |
| Exon 3 | 56912058 | t>C | Cys>Cys | 2GO | 1 MM and 1 WM |
| Exon 3 | 56912056 | t>C | Val>Ala | 3GO | 3 MM and 1 WM |
| Exon 3 | 56912051 | t>C | Cys>Arg | 4GO | 3 MM and 1 WM |
| Exon 3 | 56912041 | g>A | Gly>Asp | 5GO | 1 MM and 1 WM |
| Intron 3 | 56911526 | g>A | 6GO | 2 WM | |
| Intron 4 | 56910856 | t>C | 7GO | 1 MM and 1 WM | |
| Intron 4 | 56910811 | a>G | 8GO | 2 WM | |
| Intron 4 | 56910410 | a>G | 9GO | 2 MM | |
| Intron 4 | 56910219 | a>G | 10GO | 2 MM | |
| Intron 4 | 56909762 | ins(Ts) | 11GO | 6 MM and 7 WM | |
| Intron 4 | 56909764 | ins (Ts) | 12GO | 3 MM and 2 WM | |
| Intron 4 | 56909589 | del or ins (T)s | 13GO | 7 MM and 7 WM | |
| Intron 4 | 56909447 | del or ins (TTTA)s | 14GO | 6 MM and 5 WM | |
| Intron 4 | 56909315 | c>T | 15GO | 4 MM | |
| Intron 4 | 56909217 | c>T | 16GO | 4 MM and 1 WM | |
| Hematopoietic/germline origin | |||||
| Exon 3 | 56912197 | a>G | Asp>Gly | 1H/G | 1 MM and 1 WM |
| Intron 3 | 56911983 | a>G | 2H/G | 2 MM | |
| Intron 3 | 56911977 | a>G | 3H/G | 1 MM and 1 WM | |
| Intron 4 | 56910790 | a>C | 4H/G | 2 WM | |
| Intron 4 | 56909253 | g>A | 5H/G | 2 WM | |
| NCBI-SNPs | |||||
| Exon 3 | 56912163 | c>T | Asp>Asp | rs 11084111 | 7 MM and 2 WM |
| Intron 3 | 56911889 | g>A | rs 11084110 | 8 MM and 2 WM | |
| Intron 3 | 56911831 | g>A | rs 11084109 | 8 MM and 7 WM | |
| Intron 3 | 56911750 | t>A | rs 11669079 | 8 MM and 7 WM | |
| Intron 4 | 56910770 | g>C | rs 11667974 | 3 MM and 1 WM | |
| Intron 4 | 56910738 | t>G | rs 11667949 | 8 MM and 7 WM | |
| Intron 4 | 56910711 | g>A | rs 7254072 | 8 MM and 7 WM | |
| Intron 4 | 56910493 | g>C | rs 4802850 | 4 MM and 3 WM | |
| Intron 4 | 56910155 | c>A | rs 4802849 | 5 MM and 4 WM | |
| Intron 4 | 56910154 | c>G | rs 4802848 | 5 MM and 4 WM | |
| Intron 4 | 56909763 | c>T | rs 8104157 | 8 MM and 7 WM | |
| Intron 4 | 56909604 | ins T | rs 11438660 | 8 MM and 7 WM | |
Details are included of recurrent GVs that were detected in MM and WM, in exons and introns. TS indicates tumor specific GVs; HO, hematopoietic origin GVs; GO, germline origin GVs; H/G, hematopoietic/germline GVs; AA, amino acid; ins, insertion; del, deletion. GVs are numbered according to their position on exons and introns.
The numbers represent the number of patients with MM or WM or both in whom the GV was recurrent. A total of 49 chromosomal positions in HAS1 harbored GVs.
Two different mutated alleles were detected, yielding an aggregate of 50 recurrent GVs.