CARMN fusions and PDGFRB mutations highlight key differences amongst cutaneous tumors with myopericytic differentiation - DERMATLAS: Myopericytoma_WES
Cutaneous tumors with myopericytic differentiation (PTs) are a family of soft tissue tumors arising from pericytes, encompassing myopericytoma (MPC), glomus tumor (GT) and angioleiomyoma (ALM). These tumors represent a morphological continuum, with some cases showing overlapping features. Molecular studies of PTs to date have focussed on either their mutational profile or gene fusions, however, it remains to be determined how these alterations overlap and if they can explain the subtle morphological differences between these subtypes. Thus, we collated an international cohort of formalin-fixed, paraffin-embedded PTs, comprised of MPC, GT and ALM cases. We performed tumor and normal DNA whole-exome sequencing and tumor RNA exome-capture transcriptome sequencing from cases for which both tumor and matched normal tissue were available (‘matched’ cohort) or which tumor-only tissue was available (‘unmatched’ cohort).
- 11/05/2026
- 70 samples
- DAC: EGAC00001000000
- Technology: Illumina NovaSeq 6000
- Archive: European Genome-phenome Archive (EGA)
DUO:0000019 version: 2021-02-23
publication required
This data use modifier indicates that requestor agrees to make results of studies using the data available to the larger scientific community.
DUO:0000026 version: 2021-02-23
user specific restriction
This data use modifier indicates that use is limited to use by approved users.
DUO:0000028 version: 2021-02-23
institution specific restriction
This data use modifier indicates that use is limited to use within an approved institution.
DUO:0000042 version: 2021-02-23
general research use
This data use permission indicates that use is allowed for general research use for any research purpose.
Wellcome Trust Sanger Institute Cancer Genome Group Data Sharing Policy
Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.
| Study ID | Study Title | Study Type |
|---|---|---|
| EGAS00001005712 | Cancer Genomics | |
| EGAS00001006676 | Cancer Genomics |
This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.
| ID | File Type | Size | Quality Report |
Located in
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|---|---|---|---|---|
| EGAF00008180391 | cram | 5.8 GB |
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| EGAF00008180392 | cram | 3.4 GB |
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| EGAF00008180394 | cram | 5.4 GB |
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| EGAF00008180395 | cram | 7.6 GB |
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| EGAF00008180396 | cram | 4.3 GB |
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| EGAF00008180397 | cram | 7.8 GB |
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| EGAF00008180398 | cram | 6.0 GB |
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| EGAF00008180399 | cram | 5.2 GB |
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| EGAF00008180400 | cram | 6.2 GB |
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| EGAF00008180401 | cram | 6.6 GB |
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| EGAF00008180402 | cram | 8.3 GB |
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| EGAF00008180403 | cram | 4.9 GB |
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| EGAF00008251848 | cram | 3.9 GB |
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| EGAF00008251912 | cram | 4.0 GB |
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| EGAF00008296305 | cram | 3.4 GB |
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| EGAF00008296306 | cram | 2.8 GB |
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| EGAF00008296307 | cram | 2.5 GB |
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| EGAF00008296308 | cram | 3.0 GB |
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| EGAF00008296309 | cram | 3.5 GB |
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| EGAF00008296310 | cram | 329.5 MB |
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| EGAF00008296311 | cram | 2.5 GB |
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| EGAF00008296312 | cram | 2.0 GB |
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| EGAF00008296313 | cram | 2.0 GB |
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| EGAF00008296314 | cram | 2.0 GB |
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| EGAF00008296315 | cram | 2.9 GB |
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| EGAF00008296316 | cram | 3.9 GB |
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| EGAF00008296317 | cram | 6.1 GB |
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| EGAF00008296318 | cram | 3.6 GB |
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| EGAF00008296319 | cram | 3.2 GB |
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| EGAF00008296320 | cram | 2.4 GB |
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| EGAF00008296321 | cram | 4.0 GB |
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| EGAF00008296322 | cram | 2.9 GB |
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| EGAF00008296323 | cram | 2.5 GB |
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| EGAF00008296324 | cram | 2.6 GB |
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| EGAF00008296325 | cram | 2.5 GB |
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| EGAF00008296326 | cram | 2.0 GB |
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| EGAF00008296327 | cram | 3.7 GB |
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| EGAF00008296328 | cram | 2.4 GB |
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| EGAF00008296329 | cram | 1.9 GB |
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| EGAF00008296330 | cram | 2.1 GB |
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| EGAF00008296331 | cram | 1.8 GB |
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| EGAF00008296332 | cram | 1.6 GB |
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| EGAF00008296333 | cram | 1.8 GB |
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| EGAF00008296334 | cram | 2.5 GB |
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| EGAF00008296335 | cram | 2.1 GB |
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| EGAF00008296336 | cram | 2.1 GB |
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| EGAF00008296337 | cram | 3.1 GB |
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| EGAF00008296338 | cram | 4.3 GB |
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| EGAF00008296339 | cram | 4.5 GB |
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| EGAF00008296340 | cram | 243.7 MB |
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| EGAF00008296341 | cram | 2.9 GB |
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| EGAF00008296342 | cram | 2.8 GB |
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| EGAF00008296343 | cram | 4.1 GB |
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| EGAF00008296344 | cram | 3.0 GB |
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| EGAF00008296345 | cram | 1.9 GB |
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| EGAF00008296346 | cram | 3.1 GB |
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| EGAF00008296347 | cram | 2.2 GB |
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| EGAF00008296348 | cram | 2.3 GB |
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| EGAF00008296349 | cram | 2.9 GB |
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| EGAF00008296350 | cram | 1.9 GB |
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| EGAF00008296351 | cram | 2.2 GB |
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| EGAF00008296352 | cram | 2.6 GB |
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| EGAF00008296353 | cram | 2.6 GB |
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| EGAF00008296354 | cram | 2.7 GB |
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| EGAF00008296355 | cram | 2.1 GB |
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| EGAF00008296356 | cram | 3.4 GB |
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| EGAF00008296357 | cram | 2.8 GB |
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| EGAF00008296358 | cram | 2.5 GB |
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| EGAF00008296359 | cram | 3.0 GB |
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| EGAF00008296360 | cram | 3.5 GB |
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| EGAF00008296361 | cram | 328.2 MB |
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| EGAF00008296362 | cram | 2.5 GB |
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| EGAF00008296363 | cram | 2.0 GB |
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| EGAF00008296364 | cram | 2.0 GB |
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| EGAF00008296365 | cram | 2.0 GB |
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| EGAF00008296366 | cram | 2.8 GB |
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| EGAF00008296367 | cram | 3.9 GB |
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| EGAF00008296368 | cram | 6.1 GB |
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| EGAF00008296369 | cram | 3.6 GB |
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| EGAF00008296370 | cram | 3.2 GB |
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| EGAF00008296371 | cram | 2.4 GB |
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| EGAF00008296372 | cram | 4.0 GB |
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| EGAF00008296373 | cram | 2.9 GB |
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| EGAF00008296374 | cram | 2.5 GB |
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| EGAF00008296375 | cram | 2.6 GB |
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| EGAF00008296376 | cram | 2.5 GB |
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| EGAF00008296377 | cram | 2.0 GB |
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| EGAF00008296378 | cram | 3.7 GB |
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| EGAF00008296379 | cram | 2.4 GB |
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| EGAF00008296380 | cram | 1.9 GB |
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| EGAF00008296381 | cram | 2.1 GB |
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| EGAF00008296382 | cram | 1.8 GB |
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| EGAF00008296383 | cram | 1.6 GB |
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| EGAF00008296384 | cram | 1.8 GB |
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| EGAF00008296385 | cram | 2.5 GB |
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| EGAF00008296386 | cram | 2.1 GB |
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| EGAF00008296387 | cram | 2.1 GB |
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| EGAF00008296388 | cram | 3.1 GB |
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| EGAF00008296389 | cram | 4.3 GB |
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| EGAF00008296390 | cram | 4.5 GB |
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| EGAF00008296391 | cram | 241.9 MB |
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| EGAF00008296392 | cram | 2.9 GB |
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| EGAF00008296393 | cram | 2.8 GB |
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| EGAF00008296394 | cram | 4.1 GB |
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| EGAF00008296395 | cram | 3.0 GB |
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| EGAF00008296396 | cram | 1.9 GB |
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| EGAF00008296397 | cram | 3.1 GB |
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| EGAF00008296398 | cram | 2.1 GB |
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| EGAF00008296399 | cram | 2.3 GB |
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| EGAF00008296400 | cram | 2.9 GB |
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| EGAF00008296401 | cram | 1.8 GB |
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| EGAF00008296402 | cram | 2.2 GB |
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| EGAF00008296403 | cram | 2.5 GB |
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| EGAF00008296404 | cram | 2.6 GB |
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| EGAF00008296405 | cram | 2.6 GB |
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| EGAF00008296406 | cram | 2.1 GB |
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| EGAF00008498339 | cram | 3.9 GB |
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| EGAF00008498340 | cram | 4.2 GB |
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| EGAF00008498341 | cram | 4.1 GB |
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| EGAF00008498342 | cram | 9.3 GB |
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| EGAF00008498343 | cram | 3.7 GB |
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| EGAF00008498344 | cram | 3.4 GB |
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| EGAF00009047907 | vcf.gz | 27.8 MB |
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| EGAF00009047908 | vcf.gz | 87.1 MB |
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| EGAF00009047943 | vcf.gz | 13.8 MB |
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| EGAF00009047944 | vcf.gz | 61.2 MB |
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| EGAF00009047945 | vcf.gz | 15.6 MB |
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| EGAF00009047946 | vcf.gz | 66.1 MB |
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| EGAF00009047947 | vcf.gz | 15.8 MB |
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| EGAF00009047948 | vcf.gz | 63.0 MB |
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| EGAF00009047949 | vcf.gz | 20.9 MB |
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| EGAF00009047950 | vcf.gz | 82.7 MB |
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| EGAF00009047951 | vcf.gz | 16.0 MB |
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| EGAF00009047952 | vcf.gz | 63.9 MB |
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| EGAF00009047953 | vcf.gz | 25.6 MB |
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| EGAF00009047954 | vcf.gz | 79.6 MB |
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| EGAF00009047955 | vcf.gz | 20.3 MB |
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| EGAF00009047956 | vcf.gz | 68.5 MB |
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| EGAF00009047957 | vcf.gz | 33.7 MB |
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| EGAF00009047958 | vcf.gz | 1.4 MB |
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| EGAF00009047959 | vcf.gz | 12.9 MB |
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| EGAF00009047960 | vcf.gz | 53.5 MB |
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| EGAF00009047961 | vcf.gz | 16.4 MB |
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| EGAF00009047962 | vcf.gz | 70.5 MB |
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| EGAF00009047963 | vcf.gz | 18.6 MB |
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| EGAF00009047964 | vcf.gz | 75.8 MB |
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| EGAF00009047965 | vcf.gz | 19.3 MB |
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| EGAF00009047966 | vcf.gz | 76.5 MB |
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| EGAF00009047967 | vcf.gz | 19.1 MB |
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| EGAF00009047968 | vcf.gz | 77.4 MB |
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| EGAF00009047969 | vcf.gz | 22.0 MB |
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| EGAF00009047970 | vcf.gz | 83.8 MB |
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| EGAF00009047971 | vcf.gz | 19.5 MB |
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| EGAF00009047972 | vcf.gz | 79.4 MB |
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| EGAF00009047973 | vcf.gz | 17.9 MB |
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| EGAF00009047974 | vcf.gz | 75.3 MB |
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| EGAF00009047975 | vcf.gz | 33.9 MB |
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| EGAF00009047976 | vcf.gz | 1.2 MB |
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| EGAF00009047977 | vcf.gz | 17.3 MB |
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| EGAF00009047978 | vcf.gz | 73.6 MB |
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| EGAF00009047979 | vcf.gz | 17.1 MB |
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| EGAF00009047980 | vcf.gz | 82.3 MB |
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| EGAF00009047981 | vcf.gz | 14.5 MB |
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| EGAF00009047982 | vcf.gz | 66.8 MB |
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| EGAF00009047983 | vcf.gz | 14.0 MB |
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| EGAF00009047984 | vcf.gz | 62.5 MB |
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| EGAF00009047985 | vcf.gz | 36.0 MB |
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| EGAF00009047986 | vcf.gz | 2.1 MB |
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| EGAF00009047987 | vcf.gz | 33.3 MB |
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| EGAF00009047988 | vcf.gz | 771.4 kB |
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| EGAF00009047989 | vcf.gz | 46.0 MB |
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| EGAF00009047990 | vcf.gz | 1.3 MB |
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| EGAF00009047991 | vcf.gz | 49.5 MB |
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| EGAF00009047992 | vcf.gz | 1.2 MB |
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| EGAF00009047993 | vcf.gz | 50.6 MB |
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| EGAF00009047994 | vcf.gz | 1.4 MB |
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| EGAF00009047995 | vcf.gz | 16.2 MB |
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| EGAF00009047996 | vcf.gz | 62.1 MB |
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| EGAF00009047997 | vcf.gz | 11.8 MB |
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| EGAF00009047998 | vcf.gz | 60.2 MB |
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| EGAF00009047999 | vcf.gz | 36.9 MB |
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| EGAF00009048000 | vcf.gz | 1.6 MB |
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| EGAF00009048001 | vcf.gz | 14.7 MB |
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| EGAF00009048002 | vcf.gz | 64.7 MB |
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| EGAF00009048003 | vcf.gz | 48.1 MB |
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| EGAF00009048004 | vcf.gz | 1.7 MB |
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| EGAF00009048005 | vcf.gz | 27.0 MB |
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| EGAF00009048006 | vcf.gz | 92.0 MB |
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| EGAF00009048007 | vcf.gz | 17.3 MB |
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| EGAF00009048008 | vcf.gz | 72.5 MB |
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| EGAF00009048009 | vcf.gz | 35.4 MB |
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| EGAF00009048010 | vcf.gz | 1.5 MB |
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| EGAF00009048011 | vcf.gz | 19.8 MB |
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| EGAF00009048012 | vcf.gz | 77.6 MB |
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| EGAF00009048013 | vcf.gz | 19.8 MB |
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| EGAF00009048014 | vcf.gz | 75.8 MB |
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| EGAF00009048015 | vcf.gz | 17.4 MB |
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| EGAF00009048016 | vcf.gz | 71.9 MB |
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| EGAF00009048017 | vcf.gz | 20.3 MB |
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| EGAF00009048018 | vcf.gz | 74.3 MB |
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| EGAF00009048019 | vcf.gz | 24.1 MB |
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| EGAF00009048020 | vcf.gz | 88.4 MB |
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| EGAF00009048053 | vcf.gz | 40.5 MB |
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| EGAF00009048054 | vcf.gz | 863.4 kB |
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| EGAF00009048059 | vcf.gz | 21.1 MB |
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| EGAF00009048060 | vcf.gz | 80.5 MB |
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| EGAF00009048069 | vcf.gz | 45.5 MB |
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| EGAF00009048070 | vcf.gz | 1.5 MB |
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| 208 Files (382.8 GB) | ||||