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CARMN fusions and PDGFRB mutations highlight key differences amongst cutaneous tumors with myopericytic differentiation - DERMATLAS: Angioleiomyoma_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).

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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
EGAS00001005710 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
EGAF00008060807 cram 2.5 GB
EGAF00008060808 cram 1.6 GB
EGAF00008060809 cram 1.6 GB
EGAF00008060810 cram 1.7 GB
EGAF00008060811 cram 1.9 GB
EGAF00008060812 cram 1.8 GB
EGAF00008060813 cram 1.7 GB
EGAF00008060814 cram 1.5 GB
EGAF00008060815 cram 1.1 GB
EGAF00008060816 cram 1.3 GB
EGAF00008060817 cram 2.0 GB
EGAF00008060819 cram 2.1 GB
EGAF00008060820 cram 1.6 GB
EGAF00008060821 cram 1.5 GB
EGAF00008060822 cram 2.1 GB
EGAF00008060823 cram 1.7 GB
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EGAF00008060825 cram 1.1 GB
EGAF00008060826 cram 1.4 GB
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EGAF00008060828 cram 1.2 GB
EGAF00008060830 cram 1.4 GB
EGAF00008060831 cram 1.3 GB
EGAF00008060832 cram 1.6 GB
EGAF00008060833 cram 1.1 GB
EGAF00008060834 cram 1.4 GB
EGAF00008060835 cram 1.2 GB
EGAF00008060836 cram 1.4 GB
EGAF00008060837 cram 1.6 GB
EGAF00008060838 cram 1.8 GB
EGAF00008060839 cram 1.9 GB
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EGAF00008060911 cram 1.5 GB
EGAF00008060912 cram 2.2 GB
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EGAF00008060935 cram 2.0 GB
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EGAF00008061005 cram 1.2 GB
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EGAF00008061026 cram 442.8 MB
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EGAF00008638190 cram 2.4 GB
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EGAF00008638203 cram 2.4 GB
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EGAF00008638244 cram 1.9 GB
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EGAF00008638261 cram 1.8 GB
EGAF00009044039 cram 2.2 GB
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EGAF00009044266 cram 6.0 GB
EGAF00009044267 cram 6.8 GB
EGAF00009044268 cram 6.6 GB
EGAF00009044269 cram 9.7 GB
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EGAF00009044271 cram 7.5 GB
EGAF00009044272 cram 5.0 GB
EGAF00009044273 cram 5.2 GB
EGAF00009044274 cram 5.7 GB
EGAF00009044275 cram 6.9 GB
EGAF00009044276 cram 1.1 GB
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EGAF00009047334 cram 5.5 GB
EGAF00009047335 cram 8.0 GB
EGAF00009047336 cram 5.6 GB
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EGAF00009047758 vcf.gz 1.2 MB
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EGAF00009047760 vcf.gz 1.5 MB
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EGAF00009048082 vcf.gz 86.5 MB
EGAF00009048083 vcf.gz 25.6 MB
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EGAF00009048085 vcf.gz 24.2 MB
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EGAF00009048096 vcf.gz 832.3 kB
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EGAF00009048103 vcf.gz 22.9 MB
EGAF00009048104 vcf.gz 82.3 MB
EGAF00009048105 vcf.gz 44.2 MB
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EGAF00009048107 vcf.gz 20.2 MB
EGAF00009048108 vcf.gz 77.8 MB
EGAF00009048109 vcf.gz 45.2 MB
EGAF00009048110 vcf.gz 1.2 MB
EGAF00009048111 vcf.gz 26.8 MB
EGAF00009048112 vcf.gz 86.9 MB
EGAF00009048113 vcf.gz 45.4 MB
EGAF00009048114 vcf.gz 1.0 MB
EGAF00009048115 vcf.gz 21.9 MB
EGAF00009048116 vcf.gz 86.8 MB
EGAF00009048117 vcf.gz 18.2 MB
EGAF00009048118 vcf.gz 80.0 MB
EGAF00009048119 vcf.gz 46.1 MB
EGAF00009048120 vcf.gz 1.2 MB
EGAF00009048121 vcf.gz 47.0 MB
EGAF00009048122 vcf.gz 1.1 MB
EGAF00009048123 vcf.gz 26.8 MB
EGAF00009048124 vcf.gz 83.3 MB
EGAF00009048125 vcf.gz 17.2 MB
EGAF00009048126 vcf.gz 63.6 MB
EGAF00009048127 vcf.gz 48.0 MB
EGAF00009048128 vcf.gz 1.2 MB
EGAF00009048129 vcf.gz 17.0 MB
EGAF00009048130 vcf.gz 70.3 MB
EGAF00009048131 vcf.gz 21.9 MB
EGAF00009048132 vcf.gz 72.6 MB
EGAF00009048133 vcf.gz 23.2 MB
EGAF00009048134 vcf.gz 75.5 MB
EGAF00009048135 vcf.gz 42.1 MB
EGAF00009048136 vcf.gz 1.4 MB
EGAF00009048137 vcf.gz 35.2 MB
EGAF00009048138 vcf.gz 892.1 kB
513 Files (791.4 GB)