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@@ -17,7 +17,7 @@
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  <div class="logo-badge">
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  <div class="pulse-dot"></div>
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  <span class="logo-title">MVA SYNDROME</span>
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- <span class="logo-sub">5D GENOMIC STUDIO</span>
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  </div>
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  <div class="patient-badge">
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  <span class="patient-label">PROBAND:</span>
@@ -67,6 +67,12 @@
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  <button class="nav-tab" data-tab="tab-syndromic-diff">
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  <span class="tab-icon">🩺</span> Phenotype Differential Matrix
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  </button>
 
 
 
 
 
 
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  <button class="nav-tab" data-tab="tab-mosaic-strat">
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  <span class="tab-icon">⚑</span> Mosaic Allelic Stratification
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  </button>
@@ -80,7 +86,7 @@
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  <span class="tab-icon">πŸ”¬</span> Mosaicism & VAF Spectrum
81
  </button>
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  <button class="nav-tab" data-tab="tab-wgs">
83
- <span class="tab-icon">πŸ“Š</span> WGS Sequencing & Flowcells
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  </button>
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  <button class="nav-tab" data-tab="tab-pathway">
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  <span class="tab-icon">βš™οΈ</span> Mitotic Checkpoint Pathway
@@ -246,129 +252,7 @@
246
  </div>
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  </section>
248
 
249
- <!-- Tab 3: Mosaicism & VAF Spectrum -->
250
- <section id="tab-mosaic" class="tab-content">
251
- <div class="mosaic-grid">
252
- <div class="card">
253
- <div class="card-header">
254
- <h3>πŸ”¬ Variant Allele Frequency (VAF) Spectrum & Mosaicism Analysis</h3>
255
- <span class="badge-cyan">Somatic vs Germline Resolution</span>
256
- </div>
257
- <div class="card-body">
258
- <p class="section-desc">
259
- In Mosaic Variegated Aneuploidy, post-zygotic somatic mutations and mitotic nondisjunction events exhibit non-Mendelian allele frequencies. Variants with <strong>VAF between 5% and 38% (0.05 – 0.38)</strong> represent high-confidence mosaic somatic candidates.
260
- </p>
261
-
262
- <div class="vaf-distribution-chart">
263
- <div class="vaf-bracket bracket-mosaic">
264
- <div class="bracket-header">
265
- <span>MOSAIC SOMATIC SPECTRUM</span>
266
- <strong>5% – 38% VAF</strong>
267
- </div>
268
- <div class="bracket-body" id="mosaicListSummary">
269
- <!-- JS generated -->
270
- </div>
271
- </div>
272
-
273
- <div class="vaf-bracket bracket-het">
274
- <div class="bracket-header">
275
- <span>GERMLINE HETEROZYGOUS</span>
276
- <strong>40% – 60% VAF</strong>
277
- </div>
278
- <div class="bracket-body" id="hetListSummary">
279
- <!-- JS generated -->
280
- </div>
281
- </div>
282
-
283
- <div class="vaf-bracket bracket-hom">
284
- <div class="bracket-header">
285
- <span>GERMLINE HOMOZYGOUS</span>
286
- <strong>85% – 100% VAF</strong>
287
- </div>
288
- <div class="bracket-body" id="homListSummary">
289
- <!-- JS generated -->
290
- </div>
291
- </div>
292
- </div>
293
- </div>
294
- </div>
295
-
296
- <div class="card">
297
- <div class="card-header">
298
- <h3>⭐ Top Mosaic Somatic Candidate Loci</h3>
299
- <span class="badge-gold">Prioritized SAC & Centrosome Mutants</span>
300
- </div>
301
- <div class="card-body">
302
- <div id="topMosaicTable" class="top-mosaic-container">
303
- <!-- Rendered via JS -->
304
- </div>
305
- </div>
306
- </div>
307
- </div>
308
- </section>
309
-
310
- <!-- Tab 4: WGS Sequencing & Flowcells -->
311
- <section id="tab-wgs" class="tab-content">
312
- <div class="wgs-grid">
313
- <div class="card">
314
- <div class="card-header">
315
- <h3>πŸ“Š Illumina NovaSeq 6000 Flowcell Metrics</h3>
316
- <span class="badge-cyan">Flowcell ID: HGWCNDSX7</span>
317
- </div>
318
- <div class="card-body">
319
- <div class="stats-overview-row">
320
- <div class="overview-box">
321
- <span class="box-label">Total Sequencing Data</span>
322
- <span class="box-val font-cyan">78.86 GB</span>
323
- </div>
324
- <div class="overview-box">
325
- <span class="box-label">Total Paired Reads</span>
326
- <span class="box-val">805.8 Million</span>
327
- </div>
328
- <div class="overview-box">
329
- <span class="box-label">Mean Genome Coverage</span>
330
- <span class="box-val font-green">36.2Γ—</span>
331
- </div>
332
- <div class="overview-box">
333
- <span class="box-label">Bases β‰₯ Q30</span>
334
- <span class="box-val font-gold">93.45%</span>
335
- </div>
336
- <div class="overview-box">
337
- <span class="box-label">Mean Insert Size</span>
338
- <span class="box-val">380 bp</span>
339
- </div>
340
- <div class="overview-box">
341
- <span class="box-label">Duplication Rate</span>
342
- <span class="box-val">8.4%</span>
343
- </div>
344
- </div>
345
-
346
- <h4 class="subhead">Lane-by-Lane Sequencing Breakdown (4 Flowcell Lanes)</h4>
347
- <div class="lanes-table-wrapper">
348
- <table class="lane-table">
349
- <thead>
350
- <tr>
351
- <th>Lane</th>
352
- <th>Read 1 (R1) FASTQ</th>
353
- <th>R1 Size</th>
354
- <th>Read 2 (R2) FASTQ</th>
355
- <th>R2 Size</th>
356
- <th>Total Reads</th>
357
- <th>Q30 %</th>
358
- <th>Est. Coverage</th>
359
- </tr>
360
- </thead>
361
- <tbody id="laneTableBody">
362
- <!-- Rendered via JS -->
363
- </tbody>
364
- </table>
365
- </div>
366
- </div>
367
- </div>
368
- </div>
369
- </section>
370
-
371
- <!-- Tab 6: Candidate Gene Burden & ACMG Matrix -->
372
  <section id="tab-gene-burden" class="tab-content">
373
  <div class="infotable-card">
374
  <div class="infotable-header">
@@ -404,7 +288,7 @@
404
  </div>
405
  </section>
406
 
407
- <!-- Tab 7: Phenotype Differential Matrix -->
408
  <section id="tab-syndromic-diff" class="tab-content">
409
  <div class="infotable-card">
410
  <div class="infotable-header">
@@ -436,7 +320,76 @@
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  </div>
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  </section>
438
 
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- <!-- Tab 8: Mosaic Allelic Stratification -->
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
440
  <section id="tab-mosaic-strat" class="tab-content">
441
  <div class="infotable-card">
442
  <div class="infotable-header">
@@ -466,7 +419,7 @@
466
  </div>
467
  </section>
468
 
469
- <!-- Tab 9: Mitotic Machinery & Interactome Functional Table -->
470
  <section id="tab-mitotic-machinery" class="tab-content">
471
  <div class="infotable-card">
472
  <div class="infotable-header">
@@ -499,7 +452,7 @@
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  </div>
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  </section>
501
 
502
- <!-- Tab 10: 24-Chromosome Karyotype & Instability Matrix -->
503
  <section id="tab-karyotype-matrix" class="tab-content">
504
  <div class="infotable-card">
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  <div class="infotable-header">
@@ -534,6 +487,147 @@
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  </div>
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  </section>
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  <!-- Variant Detail Modal -->
538
  <div id="modalVariant" class="modal-overlay hidden">
539
  <div class="modal-card">
@@ -551,7 +645,7 @@
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  <div id="modalHelp" class="modal-overlay hidden">
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  <div class="modal-card">
553
  <div class="modal-header">
554
- <h2>⌨ 5D Studio Keyboard Shortcuts</h2>
555
  <button id="btnCloseHelpModal" class="modal-close">βœ•</button>
556
  </div>
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  <div class="modal-body">
@@ -560,12 +654,14 @@
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  <div class="shortcut-item"><kbd>2</kbd><span>Chromosome & Variant Navigator (5.01M WGS)</span></div>
561
  <div class="shortcut-item"><kbd>3</kbd><span>Candidate Gene Burden & ACMG Matrix</span></div>
562
  <div class="shortcut-item"><kbd>4</kbd><span>Phenotype Differential Matrix</span></div>
563
- <div class="shortcut-item"><kbd>5</kbd><span>Mosaic Allelic Stratification Table</span></div>
564
- <div class="shortcut-item"><kbd>6</kbd><span>Mitotic Machinery Interactome</span></div>
565
- <div class="shortcut-item"><kbd>7</kbd><span>24-Chromosome Karyotype Matrix</span></div>
566
- <div class="shortcut-item"><kbd>8</kbd><span>Mosaicism & VAF Spectrum</span></div>
567
- <div class="shortcut-item"><kbd>9</kbd><span>WGS Sequencing & Flowcells</span></div>
568
- <div class="shortcut-item"><kbd>0</kbd><span>Mitotic Checkpoint Pathway Network</span></div>
 
 
569
  <div class="shortcut-item"><kbd>/</kbd><span>Focus Variant Search bar</span></div>
570
  <div class="shortcut-item"><kbd>Esc</kbd><span>Close modals</span></div>
571
  </div>
 
17
  <div class="logo-badge">
18
  <div class="pulse-dot"></div>
19
  <span class="logo-title">MVA SYNDROME</span>
20
+ <span class="logo-sub">MULTI-DIMENSIONAL GENOMIC STUDIO</span>
21
  </div>
22
  <div class="patient-badge">
23
  <span class="patient-label">PROBAND:</span>
 
67
  <button class="nav-tab" data-tab="tab-syndromic-diff">
68
  <span class="tab-icon">🩺</span> Phenotype Differential Matrix
69
  </button>
70
+ <button class="nav-tab" data-tab="tab-acmg-matrix">
71
+ <span class="tab-icon">πŸ§ͺ</span> ACMG Variant Classification
72
+ </button>
73
+ <button class="nav-tab" data-tab="tab-therapeutic-targets">
74
+ <span class="tab-icon">πŸ’Š</span> Precision Oncology Targets
75
+ </button>
76
  <button class="nav-tab" data-tab="tab-mosaic-strat">
77
  <span class="tab-icon">⚑</span> Mosaic Allelic Stratification
78
  </button>
 
86
  <span class="tab-icon">πŸ”¬</span> Mosaicism & VAF Spectrum
87
  </button>
88
  <button class="nav-tab" data-tab="tab-wgs">
89
+ <span class="tab-icon">πŸ“Š</span> 4-Lane Sequencing QC Audit
90
  </button>
91
  <button class="nav-tab" data-tab="tab-pathway">
92
  <span class="tab-icon">βš™οΈ</span> Mitotic Checkpoint Pathway
 
252
  </div>
253
  </section>
254
 
255
+ <!-- Tab 3: Candidate Gene Burden & ACMG Matrix -->
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
256
  <section id="tab-gene-burden" class="tab-content">
257
  <div class="infotable-card">
258
  <div class="infotable-header">
 
288
  </div>
289
  </section>
290
 
291
+ <!-- Tab 4: Phenotype Differential Matrix -->
292
  <section id="tab-syndromic-diff" class="tab-content">
293
  <div class="infotable-card">
294
  <div class="infotable-header">
 
320
  </div>
321
  </section>
322
 
323
+ <!-- Tab 5: ACMG Variant Classification Table -->
324
+ <section id="tab-acmg-matrix" class="tab-content">
325
+ <div class="infotable-card">
326
+ <div class="infotable-header">
327
+ <div class="infotable-title-box">
328
+ <h3>πŸ§ͺ ACMG / AMP Diagnostic Variant Pathogenicity Classification Table</h3>
329
+ <p class="infotable-desc">Formal ACMG/AMP clinical evidence tiering of prioritized candidate mutations across Spindle Assembly Checkpoint and sarcoma driver loci.</p>
330
+ </div>
331
+ <div class="table-search-box">
332
+ <input type="text" id="searchAcmgMatrix" placeholder="Filter by gene or classification..." class="search-input">
333
+ </div>
334
+ </div>
335
+ <div class="table-scroll-lg">
336
+ <table class="infotable">
337
+ <thead>
338
+ <tr>
339
+ <th>Gene</th>
340
+ <th>HGVSc / Protein Change</th>
341
+ <th>Genomic Coordinate (GRCh38)</th>
342
+ <th>Ref β†’ Alt</th>
343
+ <th>Variant Type</th>
344
+ <th>VAF</th>
345
+ <th>ACMG Evidence Criteria</th>
346
+ <th>gnomAD v4.1 AF</th>
347
+ <th>REVEL / CADD</th>
348
+ <th>Final ACMG Tier</th>
349
+ </tr>
350
+ </thead>
351
+ <tbody id="acmgMatrixTableBody">
352
+ <!-- Rendered via JS -->
353
+ </tbody>
354
+ </table>
355
+ </div>
356
+ </div>
357
+ </section>
358
+
359
+ <!-- Tab 6: Precision Oncology Targets -->
360
+ <section id="tab-therapeutic-targets" class="tab-content">
361
+ <div class="infotable-card">
362
+ <div class="infotable-header">
363
+ <div class="infotable-title-box">
364
+ <h3>πŸ’Š Precision Oncology & Therapeutic Target Matrix</h3>
365
+ <p class="infotable-desc">Targeted therapies, synthetic lethality vulnerabilities, and investigational small molecules exploiting chromosomal instability (CIN) and mitotic spindle defects.</p>
366
+ </div>
367
+ <div class="table-search-box">
368
+ <input type="text" id="searchTherapeuticTargets" placeholder="Filter by drug, target, or mechanism..." class="search-input">
369
+ </div>
370
+ </div>
371
+ <div class="table-scroll-lg">
372
+ <table class="infotable">
373
+ <thead>
374
+ <tr>
375
+ <th>Drug / Small Molecule</th>
376
+ <th>Target Gene</th>
377
+ <th>Pharmacological Class</th>
378
+ <th>Mechanism of Action</th>
379
+ <th>Synergy with MVA Phenotype</th>
380
+ <th>Clinical Trial Status</th>
381
+ <th>Evidence Tier</th>
382
+ </tr>
383
+ </thead>
384
+ <tbody id="therapeuticTargetsTableBody">
385
+ <!-- Rendered via JS -->
386
+ </tbody>
387
+ </table>
388
+ </div>
389
+ </div>
390
+ </section>
391
+
392
+ <!-- Tab 7: Mosaic Allelic Stratification -->
393
  <section id="tab-mosaic-strat" class="tab-content">
394
  <div class="infotable-card">
395
  <div class="infotable-header">
 
419
  </div>
420
  </section>
421
 
422
+ <!-- Tab 8: Mitotic Machinery & Interactome Functional Table -->
423
  <section id="tab-mitotic-machinery" class="tab-content">
424
  <div class="infotable-card">
425
  <div class="infotable-header">
 
452
  </div>
453
  </section>
454
 
455
+ <!-- Tab 9: 24-Chromosome Karyotype & Instability Matrix -->
456
  <section id="tab-karyotype-matrix" class="tab-content">
457
  <div class="infotable-card">
458
  <div class="infotable-header">
 
487
  </div>
488
  </section>
489
 
490
+ <!-- Tab 10: Mosaicism Spectrum -->
491
+ <section id="tab-mosaic" class="tab-content">
492
+ <div class="mosaic-grid">
493
+ <div class="card">
494
+ <div class="card-header">
495
+ <h3>πŸ”¬ Variant Allele Frequency (VAF) Spectrum & Mosaicism Analysis</h3>
496
+ <span class="badge-cyan">Somatic vs Germline Resolution</span>
497
+ </div>
498
+ <div class="card-body">
499
+ <p class="section-desc">
500
+ In Mosaic Variegated Aneuploidy, post-zygotic somatic mutations and mitotic nondisjunction events exhibit non-Mendelian allele frequencies. Variants with <strong>VAF between 5% and 38% (0.05 – 0.38)</strong> represent high-confidence mosaic somatic candidates.
501
+ </p>
502
+
503
+ <div class="vaf-distribution-chart">
504
+ <div class="vaf-bracket bracket-mosaic">
505
+ <div class="bracket-header">
506
+ <span>MOSAIC SOMATIC SPECTRUM</span>
507
+ <strong>5% – 38% VAF</strong>
508
+ </div>
509
+ <div class="bracket-body" id="mosaicListSummary">
510
+ <!-- JS generated -->
511
+ </div>
512
+ </div>
513
+
514
+ <div class="vaf-bracket bracket-het">
515
+ <div class="bracket-header">
516
+ <span>GERMLINE HETEROZYGOUS</span>
517
+ <strong>40% – 60% VAF</strong>
518
+ </div>
519
+ <div class="bracket-body" id="hetListSummary">
520
+ <!-- JS generated -->
521
+ </div>
522
+ </div>
523
+
524
+ <div class="vaf-bracket bracket-hom">
525
+ <div class="bracket-header">
526
+ <span>GERMLINE HOMOZYGOUS</span>
527
+ <strong>85% – 100% VAF</strong>
528
+ </div>
529
+ <div class="bracket-body" id="homListSummary">
530
+ <!-- JS generated -->
531
+ </div>
532
+ </div>
533
+ </div>
534
+ </div>
535
+ </div>
536
+
537
+ <div class="card">
538
+ <div class="card-header">
539
+ <h3>⭐ Top Mosaic Somatic Candidate Loci</h3>
540
+ <span class="badge-gold">Prioritized SAC & Centrosome Mutants</span>
541
+ </div>
542
+ <div class="card-body">
543
+ <div id="topMosaicTable" class="top-mosaic-container">
544
+ <!-- Rendered via JS -->
545
+ </div>
546
+ </div>
547
+ </div>
548
+ </div>
549
+ </section>
550
+
551
+ <!-- Tab 11: 4-Lane Sequencing QC Audit -->
552
+ <section id="tab-wgs" class="tab-content">
553
+ <div class="wgs-grid">
554
+ <div class="card">
555
+ <div class="card-header">
556
+ <h3>πŸ“Š Illumina NovaSeq 6000 Flowcell Quality Audit (4 Lanes)</h3>
557
+ <span class="badge-cyan">Flowcell ID: HGWCNDSX7</span>
558
+ </div>
559
+ <div class="card-body">
560
+ <div class="stats-overview-row">
561
+ <div class="overview-box">
562
+ <span class="box-label">Total Sequencing Data</span>
563
+ <span class="box-val font-cyan">78.86 GB</span>
564
+ </div>
565
+ <div class="overview-box">
566
+ <span class="box-label">Total Paired Reads</span>
567
+ <span class="box-val">805.8 Million</span>
568
+ </div>
569
+ <div class="overview-box">
570
+ <span class="box-label">Mean Genome Coverage</span>
571
+ <span class="box-val font-green">36.2Γ—</span>
572
+ </div>
573
+ <div class="overview-box">
574
+ <span class="box-label">Bases β‰₯ Q30</span>
575
+ <span class="box-val font-gold">93.45%</span>
576
+ </div>
577
+ <div class="overview-box">
578
+ <span class="box-label">Mean Insert Size</span>
579
+ <span class="box-val">380 bp</span>
580
+ </div>
581
+ <div class="overview-box">
582
+ <span class="box-label">Duplication Rate</span>
583
+ <span class="box-val">8.4%</span>
584
+ </div>
585
+ </div>
586
+
587
+ <h4 class="subhead">Comprehensive Lane-by-Lane Telemetry Audit</h4>
588
+ <div class="lanes-table-wrapper">
589
+ <table class="lane-table">
590
+ <thead>
591
+ <tr>
592
+ <th>Lane ID</th>
593
+ <th>Read Pairs FASTQ Files</th>
594
+ <th>Total Size</th>
595
+ <th>Paired Reads</th>
596
+ <th>Q30 %</th>
597
+ <th>GC %</th>
598
+ <th>Est. Coverage</th>
599
+ <th>Dup Rate</th>
600
+ <th>Mapping Rate</th>
601
+ <th>Flowcell Status</th>
602
+ </tr>
603
+ </thead>
604
+ <tbody id="flowcellQcTableBody">
605
+ <!-- Rendered via JS -->
606
+ </tbody>
607
+ </table>
608
+ </div>
609
+ </div>
610
+ </div>
611
+ </div>
612
+ </section>
613
+
614
+ <!-- Tab 12: Mitotic Checkpoint Pathway Network -->
615
+ <section id="tab-pathway" class="tab-content">
616
+ <div class="pathway-grid">
617
+ <div class="card">
618
+ <div class="card-header">
619
+ <h3>βš™οΈ Spindle Assembly Checkpoint (SAC) & Centrosomal Protein Network</h3>
620
+ <span class="badge-rare">Mitotic Machinery</span>
621
+ </div>
622
+ <div class="card-body">
623
+ <div class="pathway-diagram" id="pathwayComplexes">
624
+ <!-- Rendered via JS -->
625
+ </div>
626
+ </div>
627
+ </div>
628
+ </div>
629
+ </section>
630
+
631
  <!-- Variant Detail Modal -->
632
  <div id="modalVariant" class="modal-overlay hidden">
633
  <div class="modal-card">
 
645
  <div id="modalHelp" class="modal-overlay hidden">
646
  <div class="modal-card">
647
  <div class="modal-header">
648
+ <h2>⌨ Studio Keyboard Shortcuts</h2>
649
  <button id="btnCloseHelpModal" class="modal-close">βœ•</button>
650
  </div>
651
  <div class="modal-body">
 
654
  <div class="shortcut-item"><kbd>2</kbd><span>Chromosome & Variant Navigator (5.01M WGS)</span></div>
655
  <div class="shortcut-item"><kbd>3</kbd><span>Candidate Gene Burden & ACMG Matrix</span></div>
656
  <div class="shortcut-item"><kbd>4</kbd><span>Phenotype Differential Matrix</span></div>
657
+ <div class="shortcut-item"><kbd>5</kbd><span>ACMG Diagnostic Variant Classification</span></div>
658
+ <div class="shortcut-item"><kbd>6</kbd><span>Precision Oncology Targets</span></div>
659
+ <div class="shortcut-item"><kbd>7</kbd><span>Mosaic Allelic Stratification Table</span></div>
660
+ <div class="shortcut-item"><kbd>8</kbd><span>Mitotic Machinery Interactome</span></div>
661
+ <div class="shortcut-item"><kbd>9</kbd><span>24-Chromosome Karyotype Matrix</span></div>
662
+ <div class="shortcut-item"><kbd>0</kbd><span>Mosaicism & VAF Spectrum</span></div>
663
+ <div class="shortcut-item"><kbd>Q</kbd><span>4-Lane Sequencing QC Audit</span></div>
664
+ <div class="shortcut-item"><kbd>W</kbd><span>Mitotic Checkpoint Pathway Network</span></div>
665
  <div class="shortcut-item"><kbd>/</kbd><span>Focus Variant Search bar</span></div>
666
  <div class="shortcut-item"><kbd>Esc</kbd><span>Close modals</span></div>
667
  </div>