5243578005bdbce3a3679508e0eaf2db8b23ab73
MAP3K6.md
| ... | ... | @@ -46,5 +46,12 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/M |
| 46 | 46 | <!-- ORIGIN: loveGeneticLandscapeMutations2012 --> |
| 47 | 47 | <!-- BL: loveGeneticLandscapeMutations2012 --> |
| 48 | 48 | |
| 49 | +## Representative Mutations |
|
| 50 | + |
|
| 51 | + |
|
| 52 | +**Rating** |
|
| 53 | +★ ☆ ☆ ☆ ☆ |
|
| 54 | + |
|
| 55 | + |
|
| 49 | 56 | ## References |
| 50 | 57 | 1. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561 |
papers/loveGeneticLandscapeMutations2012.md
| ... | ... | @@ -74,7 +74,7 @@ All other BL studies, BL Tier 2, 101 |
| 74 | 74 | |[ICK](../ICK)|2 |★ ☆ ☆ ☆ ☆| |
| 75 | 75 | |[ITPR3](../ITPR3)|2 |★ ☆ ☆ ☆ ☆| |
| 76 | 76 | |[KIFC3](../KIFC3)|2 |★ ☆ ☆ ☆ ☆| |
| 77 | -|[MAP3K6](../MAP3K6)|2 || |
|
| 77 | +|[MAP3K6](../MAP3K6)|2 |★ ☆ ☆ ☆ ☆| |
|
| 78 | 78 | |[MYH10](../MYH10)|2 || |
| 79 | 79 | |[NBEAL1](../NBEAL1)|2 || |
| 80 | 80 | |[NOTCH1](../NOTCH1)|2 |★ ☆ ☆ ☆ ☆| |
papers/loveGeneticLandscapeMutations2012.pdf
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| 368 | -<h1 id="lovegeneticlandscapemutations2012">@loveGeneticLandscapeMutations2012</h1> |
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| 369 | -<h2 id="summary-of-novel-genes">Summary of novel genes</h2> |
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| 370 | -<table> |
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| 371 | -<thead> |
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| 372 | -<tr> |
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| 373 | -<th style="text-align:center">Entity</th> |
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| 374 | -<th style="text-align:center">Tier 1 genes</th> |
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| 375 | -<th style="text-align:center">Tier 2 genes</th> |
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| 376 | -</tr> |
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| 377 | -</thead> |
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| 378 | -<tbody> |
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| 379 | -<tr> |
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| 380 | -<td style="text-align:center">BL</td> |
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| 381 | -<td style="text-align:center">3</td> |
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| 382 | -<td style="text-align:center">56</td> |
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| 383 | -</tr> |
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| 386 | -<pre><code class="language-mermaid"><div class="mermaid">--- |
|
| 387 | -config: |
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| 388 | - sankey: |
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| 389 | - showValues: true |
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| 396 | ---- |
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| 397 | -sankey-beta |
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| 398 | -This study, New Tier 1, 3 |
|
| 399 | -New Tier 1, BL Tier 1, 3 |
|
| 400 | -This study, New Tier 2, 56 |
|
| 401 | -New Tier 2, BL Tier 2, 56 |
|
| 402 | -All other BL studies, BL Tier 1, 26 |
|
| 403 | -All other BL studies, BL Tier 2, 101 |
|
| 404 | -</div></code></pre> |
|
| 405 | -<h2 id="novel-genes-reported-in-this-study">Novel genes reported in this study</h2> |
|
| 406 | -<h3 id="tier-1">Tier 1</h3> |
|
| 407 | -<table> |
|
| 408 | -<thead> |
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| 409 | -<tr> |
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| 410 | -<th style="text-align:left">New gene</th> |
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| 411 | -<th style="text-align:center">BL tier</th> |
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| 412 | -</tr> |
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| 413 | -</thead> |
|
| 414 | -<tbody> |
|
| 415 | -<tr> |
|
| 416 | -<td style="text-align:left"><a href="../ARID1A">ARID1A</a></td> |
|
| 417 | -<td style="text-align:center">1</td> |
|
| 418 | -</tr> |
|
| 419 | -<tr> |
|
| 420 | -<td style="text-align:left"><a href="../GNA13">GNA13</a></td> |
|
| 421 | -<td style="text-align:center">1</td> |
|
| 422 | -</tr> |
|
| 423 | -<tr> |
|
| 424 | -<td style="text-align:left"><a href="../PTEN">PTEN</a></td> |
|
| 425 | -<td style="text-align:center">1</td> |
|
| 426 | -</tr> |
|
| 427 | -</tbody> |
|
| 428 | -</table> |
|
| 429 | -<h3 id="tier-2">Tier 2</h3> |
|
| 430 | -<table> |
|
| 431 | -<thead> |
|
| 432 | -<tr> |
|
| 433 | -<th style="text-align:left">New gene</th> |
|
| 434 | -<th style="text-align:center">BL tier</th> |
|
| 435 | -<th style="text-align:center">Rating of reviewed variants</th> |
|
| 436 | -</tr> |
|
| 437 | -</thead> |
|
| 438 | -<tbody> |
|
| 439 | -<tr> |
|
| 440 | -<td style="text-align:left"><a href="../ACAD9">ACAD9</a></td> |
|
| 441 | -<td style="text-align:center">2</td> |
|
| 442 | -<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 443 | -</tr> |
|
| 444 | -<tr> |
|
| 445 | -<td style="text-align:left"><a href="../ACE">ACE</a></td> |
|
| 446 | -<td style="text-align:center">2</td> |
|
| 447 | -<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 448 | -</tr> |
|
| 449 | -<tr> |
|
| 450 | -<td style="text-align:left"><a href="../ATP2C2">ATP2C2</a></td> |
|
| 451 | -<td style="text-align:center">2</td> |
|
| 452 | -<td style="text-align:center">★ ★ ☆ ☆ ☆</td> |
|
| 453 | -</tr> |
|
| 454 | -<tr> |
|
| 455 | -<td style="text-align:left"><a href="../BCL6">BCL6</a></td> |
|
| 456 | -<td style="text-align:center">2</td> |
|
| 457 | -<td style="text-align:center">★ ★ ★ ★ ☆</td> |
|
| 458 | -</tr> |
|
| 459 | -<tr> |
|
| 460 | -<td style="text-align:left"><a href="../BRAF">BRAF</a></td> |
|
| 461 | -<td style="text-align:center">2</td> |
|
| 462 | -<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 463 | -</tr> |
|
| 464 | -<tr> |
|
| 465 | -<td style="text-align:left"><a href="../BRD4">BRD4</a></td> |
|
| 466 | -<td style="text-align:center">2</td> |
|
| 467 | -<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 468 | -</tr> |
|
| 469 | -<tr> |
|
| 470 | -<td style="text-align:left"><a href="../BTG2">BTG2</a></td> |
|
| 471 | -<td style="text-align:center">2</td> |
|
| 472 | -<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 473 | -</tr> |
|
| 474 | -<tr> |
|
| 475 | -<td style="text-align:left"><a href="../C6orf27">C6orf27</a></td> |
|
| 476 | -<td style="text-align:center">2</td> |
|
| 477 | -<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 478 | -</tr> |
|
| 479 | -<tr> |
|
| 480 | -<td style="text-align:left"><a href="../CAD">CAD</a></td> |
|
| 481 | -<td style="text-align:center">2</td> |
|
| 482 | -<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 483 | -</tr> |
|
| 484 | -<tr> |
|
| 485 | -<td style="text-align:left"><a href="../CARD4">CARD4</a></td> |
|
| 486 | -<td style="text-align:center">2</td> |
|
| 487 | -<td style="text-align:center">★ ★ ★ ★ ☆</td> |
|
| 488 | -</tr> |
|
| 489 | -<tr> |
|
| 490 | -<td style="text-align:left"><a href="../CCT6B">CCT6B</a></td> |
|
| 491 | -<td style="text-align:center">2</td> |
|
| 492 | -<td style="text-align:center"><em>Germline</em></td> |
|
| 493 | -</tr> |
|
| 494 | -<tr> |
|
| 495 | -<td style="text-align:left"><a href="../CDC73">CDC73</a></td> |
|
| 496 | -<td style="text-align:center">2</td> |
|
| 497 | -<td style="text-align:center">★ ★ ★ ☆ ☆</td> |
|
| 498 | -</tr> |
|
| 499 | -<tr> |
|
| 500 | -<td style="text-align:left"><a href="../CDH17">CDH17</a></td> |
|
| 501 | -<td style="text-align:center">2</td> |
|
| 502 | -<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 503 | -</tr> |
|
| 504 | -<tr> |
|
| 505 | -<td style="text-align:left"><a href="../COL4A2">COL4A2</a></td> |
|
| 506 | -<td style="text-align:center">2</td> |
|
| 507 | -<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 508 | -</tr> |
|
| 509 | -<tr> |
|
| 510 | -<td style="text-align:left"><a href="../CREBBP">CREBBP</a></td> |
|
| 511 | -<td style="text-align:center">2</td> |
|
| 512 | -<td style="text-align:center">★ ★ ★ ★ ☆</td> |
|
| 513 | -</tr> |
|
| 514 | -<tr> |
|
| 515 | -<td style="text-align:left"><a href="../CYB5D1">CYB5D1</a></td> |
|
| 516 | -<td style="text-align:center">2</td> |
|
| 517 | -<td style="text-align:center">★ ★ ☆ ☆ ☆</td> |
|
| 518 | -</tr> |
|
| 519 | -<tr> |
|
| 520 | -<td style="text-align:left"><a href="../CYP4F22">CYP4F22</a></td> |
|
| 521 | -<td style="text-align:center">2</td> |
|
| 522 | -<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 523 | -</tr> |
|
| 524 | -<tr> |
|
| 525 | -<td style="text-align:left"><a href="../DLGAP1">DLGAP1</a></td> |
|
| 526 | -<td style="text-align:center">2</td> |
|
| 527 | -<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 528 | -</tr> |
|
| 529 | -<tr> |
|
| 530 | -<td style="text-align:left"><a href="../DTX1">DTX1</a></td> |
|
| 531 | -<td style="text-align:center">2</td> |
|
| 532 | -<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 533 | -</tr> |
|
| 534 | -<tr> |
|
| 535 | -<td style="text-align:left"><a href="../EIF2C4">EIF2C4</a></td> |
|
| 536 | -<td style="text-align:center">2</td> |
|
| 537 | -<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 538 | -</tr> |
|
| 539 | -<tr> |
|
| 540 | -<td style="text-align:left"><a href="../EML2">EML2</a></td> |
|
| 541 | -<td style="text-align:center">2</td> |
|
| 542 | -<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 543 | -</tr> |
|
| 544 | -<tr> |
|
| 545 | -<td style="text-align:left"><a href="../ENTPD3">ENTPD3</a></td> |
|
| 546 | -<td style="text-align:center">2</td> |
|
| 547 | -<td style="text-align:center">★ ★ ☆ ☆ ☆</td> |
|
| 548 | -</tr> |
|
| 549 | -<tr> |
|
| 550 | -<td style="text-align:left"><a href="../EPHB2">EPHB2</a></td> |
|
| 551 | -<td style="text-align:center">2</td> |
|
| 552 | -<td style="text-align:center">★ ★ ☆ ☆ ☆</td> |
|
| 553 | -</tr> |
|
| 554 | -<tr> |
|
| 555 | -<td style="text-align:left"><a href="../EZH2">EZH2</a></td> |
|
| 556 | -<td style="text-align:center">2</td> |
|
| 557 | -<td style="text-align:center">★ ★ ★ ★ ★</td> |
|
| 558 | -</tr> |
|
| 559 | -<tr> |
|
| 560 | -<td style="text-align:left"><a href="../FAM129B">FAM129B</a></td> |
|
| 561 | -<td style="text-align:center">2</td> |
|
| 562 | -<td style="text-align:center">★ ★ ☆ ☆ ☆</td> |
|
| 563 | -</tr> |
|
| 564 | -<tr> |
|
| 565 | -<td style="text-align:left"><a href="../FGFR3">FGFR3</a></td> |
|
| 566 | -<td style="text-align:center">2</td> |
|
| 567 | -<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 568 | -</tr> |
|
| 569 | -<tr> |
|
| 570 | -<td style="text-align:left"><a href="../FTCD">FTCD</a></td> |
|
| 571 | -<td style="text-align:center">2</td> |
|
| 572 | -<td style="text-align:center"><em>Germline</em></td> |
|
| 573 | -</tr> |
|
| 574 | -<tr> |
|
| 575 | -<td style="text-align:left"><a href="../GGTLA4">GGTLA4</a></td> |
|
| 576 | -<td style="text-align:center">2</td> |
|
| 577 | -<td style="text-align:center">★ ★ ★ ★ ☆</td> |
|
| 578 | -</tr> |
|
| 579 | -<tr> |
|
| 580 | -<td style="text-align:left"><a href="../GRIK5">GRIK5</a></td> |
|
| 581 | -<td style="text-align:center">2</td> |
|
| 582 | -<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 583 | -</tr> |
|
| 584 | -<tr> |
|
| 585 | -<td style="text-align:left"><a href="../ICK">ICK</a></td> |
|
| 586 | -<td style="text-align:center">2</td> |
|
| 587 | -<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 588 | -</tr> |
|
| 589 | -<tr> |
|
| 590 | -<td style="text-align:left"><a href="../ITPR3">ITPR3</a></td> |
|
| 591 | -<td style="text-align:center">2</td> |
|
| 592 | -<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 593 | -</tr> |
|
| 594 | -<tr> |
|
| 595 | -<td style="text-align:left"><a href="../KIFC3">KIFC3</a></td> |
|
| 596 | -<td style="text-align:center">2</td> |
|
| 597 | -<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 598 | -</tr> |
|
| 599 | -<tr> |
|
| 600 | -<td style="text-align:left"><a href="../MAP3K6">MAP3K6</a></td> |
|
| 601 | -<td style="text-align:center">2</td> |
|
| 602 | -<td style="text-align:center"></td> |
|
| 603 | -</tr> |
|
| 604 | -<tr> |
|
| 605 | -<td style="text-align:left"><a href="../MYH10">MYH10</a></td> |
|
| 606 | -<td style="text-align:center">2</td> |
|
| 607 | -<td style="text-align:center"></td> |
|
| 608 | -</tr> |
|
| 609 | -<tr> |
|
| 610 | -<td style="text-align:left"><a href="../NBEAL1">NBEAL1</a></td> |
|
| 611 | -<td style="text-align:center">2</td> |
|
| 612 | -<td style="text-align:center"></td> |
|
| 613 | -</tr> |
|
| 614 | -<tr> |
|
| 615 | -<td style="text-align:left"><a href="../NOTCH1">NOTCH1</a></td> |
|
| 616 | -<td style="text-align:center">2</td> |
|
| 617 | -<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 618 | -</tr> |
|
| 619 | -<tr> |
|
| 620 | -<td style="text-align:left"><a href="../NRXN2">NRXN2</a></td> |
|
| 621 | -<td style="text-align:center">2</td> |
|
| 622 | -<td style="text-align:center"></td> |
|
| 623 | -</tr> |
|
| 624 | -<tr> |
|
| 625 | -<td style="text-align:left"><a href="../P2RY2">P2RY2</a></td> |
|
| 626 | -<td style="text-align:center">2</td> |
|
| 627 | -<td style="text-align:center"></td> |
|
| 628 | -</tr> |
|
| 629 | -<tr> |
|
| 630 | -<td style="text-align:left"><a href="../PC">PC</a></td> |
|
| 631 | -<td style="text-align:center">2</td> |
|
| 632 | -<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 633 | -</tr> |
|
| 634 | -<tr> |
|
| 635 | -<td style="text-align:left"><a href="../POLRMT">POLRMT</a></td> |
|
| 636 | -<td style="text-align:center">2</td> |
|
| 637 | -<td style="text-align:center"></td> |
|
| 638 | -</tr> |
|
| 639 | -<tr> |
|
| 640 | -<td style="text-align:left"><a href="../POR">POR</a></td> |
|
| 641 | -<td style="text-align:center">2</td> |
|
| 642 | -<td style="text-align:center"></td> |
|
| 643 | -</tr> |
|
| 644 | -<tr> |
|
| 645 | -<td style="text-align:left"><a href="../PRSS22">PRSS22</a></td> |
|
| 646 | -<td style="text-align:center">2</td> |
|
| 647 | -<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 648 | -</tr> |
|
| 649 | -<tr> |
|
| 650 | -<td style="text-align:left"><a href="../PTPRN">PTPRN</a></td> |
|
| 651 | -<td style="text-align:center">2</td> |
|
| 652 | -<td style="text-align:center"></td> |
|
| 653 | -</tr> |
|
| 654 | -<tr> |
|
| 655 | -<td style="text-align:left"><a href="../RANBP6">RANBP6</a></td> |
|
| 656 | -<td style="text-align:center">2</td> |
|
| 657 | -<td style="text-align:center"></td> |
|
| 658 | -</tr> |
|
| 659 | -<tr> |
|
| 660 | -<td style="text-align:left"><a href="../RBP3">RBP3</a></td> |
|
| 661 | -<td style="text-align:center">2</td> |
|
| 662 | -<td style="text-align:center"></td> |
|
| 663 | -</tr> |
|
| 664 | -<tr> |
|
| 665 | -<td style="text-align:left"><a href="../RET">RET</a></td> |
|
| 666 | -<td style="text-align:center">2</td> |
|
| 667 | -<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 668 | -</tr> |
|
| 669 | -<tr> |
|
| 670 | -<td style="text-align:left"><a href="../SALL3">SALL3</a></td> |
|
| 671 | -<td style="text-align:center">2</td> |
|
| 672 | -<td style="text-align:center"></td> |
|
| 673 | -</tr> |
|
| 674 | -<tr> |
|
| 675 | -<td style="text-align:left"><a href="../SAPS2">SAPS2</a></td> |
|
| 676 | -<td style="text-align:center">2</td> |
|
| 677 | -<td style="text-align:center"></td> |
|
| 678 | -</tr> |
|
| 679 | -<tr> |
|
| 680 | -<td style="text-align:left"><a href="../SBF1">SBF1</a></td> |
|
| 681 | -<td style="text-align:center">2</td> |
|
| 682 | -<td style="text-align:center"></td> |
|
| 683 | -</tr> |
|
| 684 | -<tr> |
|
| 685 | -<td style="text-align:left"><a href="../SF3B1">SF3B1</a></td> |
|
| 686 | -<td style="text-align:center">2</td> |
|
| 687 | -<td style="text-align:center"></td> |
|
| 688 | -</tr> |
|
| 689 | -<tr> |
|
| 690 | -<td style="text-align:left"><a href="../SHANK1">SHANK1</a></td> |
|
| 691 | -<td style="text-align:center">2</td> |
|
| 692 | -<td style="text-align:center"></td> |
|
| 693 | -</tr> |
|
| 694 | -<tr> |
|
| 695 | -<td style="text-align:left"><a href="../SLC29A2">SLC29A2</a></td> |
|
| 696 | -<td style="text-align:center">2</td> |
|
| 697 | -<td style="text-align:center"></td> |
|
| 698 | -</tr> |
|
| 699 | -<tr> |
|
| 700 | -<td style="text-align:left"><a href="../SYNGAP1">SYNGAP1</a></td> |
|
| 701 | -<td style="text-align:center">2</td> |
|
| 702 | -<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 703 | -</tr> |
|
| 704 | -<tr> |
|
| 705 | -<td style="text-align:left"><a href="../TBC1D9B">TBC1D9B</a></td> |
|
| 706 | -<td style="text-align:center">2</td> |
|
| 707 | -<td style="text-align:center"></td> |
|
| 708 | -</tr> |
|
| 709 | -<tr> |
|
| 710 | -<td style="text-align:left"><a href="../TIGD6">TIGD6</a></td> |
|
| 711 | -<td style="text-align:center">2</td> |
|
| 712 | -<td style="text-align:center"></td> |
|
| 713 | -</tr> |
|
| 714 | -<tr> |
|
| 715 | -<td style="text-align:left"><a href="../TPST2">TPST2</a></td> |
|
| 716 | -<td style="text-align:center">2</td> |
|
| 717 | -<td style="text-align:center"></td> |
|
| 718 | -</tr> |
|
| 719 | -<tr> |
|
| 720 | -<td style="text-align:left"><a href="../ZNF229">ZNF229</a></td> |
|
| 721 | -<td style="text-align:center">2</td> |
|
| 722 | -<td style="text-align:center"><em>Germline</em></td> |
|
| 723 | -</tr> |
|
| 724 | -</tbody> |
|
| 725 | -</table> |
|
| 726 | -<h2 id="see-also">See Also</h2> |
|
| 727 | -<p>The primary data supporting each of the mutations reported in this study can be viewed in <a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Love/">IGV reports</a></p> |
|
| 728 | -<h1 id="details">Details</h1> |
|
| 729 | -
|
|
| 730 | -</body>
|
|
| 731 | -</html>
|
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