Table 2.
SVs on chromosome 1 in enrolled EMM and MM patients.
| ID | SV type | SV size (kbp) | Cytobands | Chromosome A | Chromosome B | VAF (%) | Number of affected genes | ||
|---|---|---|---|---|---|---|---|---|---|
| Nr | RefStart | Nr | RefEnd | ||||||
| EMM1 | Intra-chrom | 14,502 | 1p36.33-p36.13 | 1 | 1451742 | 1 | 16010418 | 8 | 230 |
| Deletion | 12.3 | 1p32.3 | 1 | 54437326 | 1 | 54468426 | 13 | 0 | |
| Deletion | 0.7 | 1p31.1 | 1 | 73986848 | 1 | 73989906 | 49 | 0 | |
| Deletion | 0.7 | 1q21.2 | 1 | 149255041 | 1 | 149297922 | 12 | 0 | |
| Deletion | 83.9 | 1q31.1 | 1 | 188862967 | 1 | 188948998 | 13 | 0 | |
| Deletion | 0.9 | 1q41 | 1 | 219227885 | 1 | 219230864 | 69 | 0 | |
| EMM2 | Intra-chrom | 46,876 | 1p35.1-p31.1 | 1 | 33649122 | 1 | 80528558 | 13 | 475 |
| Deletion | 1,611 | 1p32.3 | 1 | 52146402 | 1 | 53764220 | 6 | 22 | |
| Deletion | 20.0 | 1p32.2 | 1 | 56859220 | 1 | 56897293 | 5 | 1 | |
| Deletion | 311 | 1p32.2 | 1 | 57042204 | 1 | 57356850 | 6 | 1 | |
| Insertion | 0.6 | 1p32.2 | 1 | 57981404 | 1 | 57987615 | 27 | 1 | |
| Intra-chrom | 57,947 | 1p32.1-p12 | 1 | 60494258 | 1 | 118466419 | 9 | 443 | |
| Deletion | 14.5 | 1p31.1 | 1 | 70404062 | 1 | 70438713 | 20 | 1 | |
| Deletion | 5.5 | 1p31.1 | 1 | 70766057 | 1 | 70784216 | 25 | 0 | |
| Intra-chrom | 21,501 | 1p22.2-p13.3 | 1 | 89446367 | 1 | 110953619 | 6 | 175 | |
| Deletion | 7.3 | 1q25.3 | 1 | 182529994 | 1 | 182549190 | 61 | 1 | |
| EMM3 | Intra-chrom | 7,575 | 1p35.2-p34.3 | 1 | 30221701 | 1 | 37801246 | 15 | 120 |
| Intra-chrom | 7,465 | 1p35.2-p34.3 | 1 | 30860870 | 1 | 38353947 | 8 | 126 | |
| Intra-chrom | 12,639 | 1p22.1-p21.1 | 1 | 93051297 | 1 | 105699124 | 9 | 81 | |
| Deletion | 1.3 | 1p22.1 | 1 | 93329493 | 1 | 93335818 | 10 | 1 | |
| Intra-chrom | 12,839 | 1p21.1-p13.2 | 1 | 102272272 | 1 | 115119846 | 21 | 140 | |
| Deletion | 5.8 | 1q42.3 | 1 | 235342739 | 1 | 235355292 | 18 | 1 | |
| EMM4 | Deletion | 53.1 | 1p36.33 | 1 | 1679533 | 1 | 1743791 | 7 | 3 |
| Insertion | 2.5 | 1p36.12 | 1 | 21983384 | 1 | 22006562 | 13 | 2 | |
| Intra-chrom | 36,076 | 1p34.2-p31.1 | 1 | 39891936 | 1 | 75973164 | 7 | 363 | |
| Deletion | 3,687 | 1p34.2-p34.1 | 1 | 42633541 | 1 | 46350766 | 8 | 102 | |
| Intra-chrom | 119,844 | 1p34.1-1q23.3 | 1 | 44054030 | 1 | 163946030 | 8 | 1175 | |
| Insertion | 2.5 | 1p13.2 | 1 | 111794239 | 1 | 111807945 | 11 | 1 | |
| Insertion | 6.1 | 1p13.1 | 1 | 115530277 | 1 | 115543191 | 14 | 0 | |
| Deletion | 0.8 | 1q31.3 | 1 | 195460336 | 1 | 195473816 | 16 | 0 | |
| Insertion | 18.6 | 1q32.2 | 1 | 207515921 | 1 | 207534396 | 12 | 2 | |
| Insertion | 6.0 | 1q32.3 | 1 | 213171761 | 1 | 213205644 | 12 | 1 | |
| MM1 | Insertion | 5.9 | 1p36.33 | 1 | 1590522 | 1 | 1654114 | 17 | 7 |
| Insertion | 59.9 | 1q21.2 | 1 | 149365317 | 1 | 149390055 | 51 | 0 | |
| Insertion | 10.9 | 1q21.3 | 1 | 152289954 | 1 | 152296885 | 13 | 0 | |
| Deletion | 231.9 | 1q25.1 | 1 | 175947709 | 1 | 176185749 | 28 | 2 | |
| Deletion | 3176 | 1q32.3-q41 | 1 | 214386812 | 1 | 217572960 | 21 | 8 | |
| Insertion | 19.9 | 1q42.12 | 1 | 226337005 | 1 | 226338164 | 32 | 0 | |
| Deletion | 315.8 | 1q43 | 1 | 238186340 | 1 | 238513554 | 23 | 1 | |
| Deletion | 31.4 | 1q43 | 1 | 239651938 | 1 | 239694630 | 23 | 1 | |
| MM2 | Insertion | 5.4 | 1p36.12 | 1 | 20372589 | 1 | 20396493 | 12 | 1 |
| Deletion | 14.6 | 1p31.1 | 1 | 83171695 | 1 | 83186312 | 19 | 0 | |
| Duplication | 95.5 | 1q21.2 | 1 | 148669395 | 1 | 148764931 | 46 | 1 | |
| Insertion | 2.4 | 1q23.2 | 1 | 161184787 | 1 | 161193876 | 13 | 1 | |
| Deletion | 4.4 | 1q25.2 | 1 | 179360227 | 1 | 179368480 | 28 | 1 | |
| MM3 | t(1;19) | 1p34.3-19p13.11 | 1 | 38291095 | 19 | 16838518 | 15 | ||
| t(1;19) | 1p34.3-19p13.12 | 1 | 39900616 | 19 | 15299192 | 18 | |||
| Deletion | 0.6 | 1q32.1 | 1 | 200212204 | 1 | 200225458 | 24 | 0 | |
| MM4 | Insertion | 14.6 | 1p36.31 | 1 | 5999446 | 1 | 6006996 | 20 | 0 |
| Insertion | 1.8 | 1p12 | 1 | 119153160 | 1 | 119157652 | 27 | 0 | |
| Duplication | 95.5 | 1q21.2 | 1 | 148669395 | 1 | 148764931 | 49 | 1 | |
| Insertion | 2.4 | 1q23.3 | 1 | 161184787 | 1 | 161193876 | 28 | 1 | |
| MM5 | Insertion | 23.0 | 1p36.13 | 1 | 16040685 | 1 | 16054506 | 9 | 0 |
| Deletion | 1.8 | 1p34.2 | 1 | 39074813 | 1 | 39085202 | 18 | 1 | |
| Deletion | 5.4 | 1p31.3 | 1 | 62279900 | 1 | 62311886 | 20 | 1 | |
| Deletion | 0.6 | 1p31.1 | 1 | 72996895 | 1 | 73015474 | 24 | 0 | |
| Duplication | 79.6 | 1q24.2 | 1 | 168300624 | 1 | 168380191 | 60 | 2 | |
| Insertion | 199.5 | 1q24.2 | 1 | 168300624 | 1 | 168380191 | 34 | 2 | |
| t(1;20) | 1q24.3-20q13.2 | 1 | 170346977 | 20 | 53385582 | 12 | |||
| Duplication | 57.9 | 1q42.13 | 1 | 227147621 | 1 | 227205509 | 19 | 1 | |
| MM6 | Insertion | 3.2 | 1p34.3 | 1 | 37899628 | 1 | 37903954 | 15 | 1 |
| Deletion | 14.6 | 1p31.1 | 1 | 83171695 | 1 | 83190595 | 17 | 0 | |
| MM7 | Insertion | 5.7 | 1p36.33 | 1 | 1590522 | 1 | 1654114 | 5 | 0 |
| Insertion | 3.8 | 1p36.32 | 1 | 4070359 | 1 | 4096038 | 5 | 0 | |
| Deletion | 23.2 | 1p36.12 | 1 | 21983384 | 1 | 22006562 | 17 | 2 | |
| Insertion | 3.4 | 1p34.1 | 1 | 44413885 | 1 | 44419138 | 7 | 1 | |
| Duplication | 47.2 | 1p21.3 | 1 | 99166139 | 1 | 99213371 | 7 | 0 | |
| Insertion | 55.4 | 1p21.3 | 1 | 99180335 | 1 | 99199495 | 6 | 0 | |
| Deletion | 721.6 | 1q21.1 | 1 | 143310164 | 1 | 144170341 | 25 | 9 | |
| Duplication | 633.7 | 1q22-q23.1 | 1 | 156251622 | 1 | 156885360 | 5 | 28 | |
| Deletion | 3.0 | 1q24.1 | 1 | 166768561 | 1 | 166777221 | 16 | 0 | |
| Deletion | 0.7 | 1q32.1 | 1 | 200212204 | 1 | 200225458 | 15 | 0 | |
intra-chrom intrachromosomal rearrangements, VAF variant allele frequency, SVs structural variants.