File Info

Filename
work/3579467451_sv1_multicov_output.tsv
Full Path
s3://natera-rnd-pltf-dev-miniwdl-scratch-01/work/91/91bbe9ccaaa494af871e039e6ae1065e/work/3579467451_sv1_multicov_output.tsv
Size
3.3 KB
Attempt
chr5 70951896 70951897 SMN1:c.835-44G>A 451
chr5 70951945 70951946 SMN1:c.840C>T 403
chr5 70952093 70952094 SMN1:c.*3+100A>G 451
chr5 70952208 70952209 SMN1:c.*3+215A>G 450
chr5 70076476 70076477 SMN2:c.835-44G>A 434
chr5 70076525 70076526 SMN2:c.840C>T 423
chr5 70076673 70076674 SMN2:c.*3+100A>G 471
chr5 70076788 70076789 SMN2:c.*3+215A>G 466
chr1 155214265 155214266 pGBA:c.*102T>C 531
chr1 155214275 155214276 pGBA:c.*92G>C 539
chr1 155214575 155214576 pGBA:p.V499 316
chr1 155214589 155214590 pGBA:p.A495P 318
chr1 155214624 155214625 pGBA:p.L483P 321
chr1 155215099 155215100 pGBA:p.D448H 304
chr1 155215683 155215684 pGBA:p.R368H 358
chr1 155215696 155215697 pGBA:p.G364R 362
chr1 155216454 155216455 pGBA:p.S310G 299
chr1 155216461 155216462 pGBA:p.L307 294
chr1 155216570 155216571 pGBA:p.A271G 352
chr1 155216863 155216864 pGBA:p.F252I 274
chr1 155216896 155216897 pGBA:p.G241A 297
chr1 155216914 155216915 pGBA:p.S235P 326
chr1 155216928 155216929 pGBA:p.V230G 323
chr1 155216936 155216937 pGBA:p.N227L 318
chr1 155216950 155216951 pGBA:p.W223R 313
chr1 155217352 155217353 pGBA:p.R159W 359
chr1 155217833 155217834 pGBA:p.T107I 506
chr1 155218145 155218147 pGBA:p.A40Gfs*51 296
chr1 155218390 155218391 pGBA:p.G39Efs*8) 173
chr1 155218460 155218461 pGBA:p.S16G 180
chr1 155218462 155218463 pGBA:p.L15S 179
chr1 155218887 155218888 pGBA:c.-14A>G 36
chr1 155218903 155218904 pGBA:c.-30G>C 31
chr1 155234892 155234893 GBA:c.*102T>C 621
chr1 155234902 155234903 GBA:c.*92G>C 620
chr1 155235202 155235203 GBA:p.V499 306
chr1 155235216 155235217 GBA:p.A495P 293
chr1 155235251 155235252 GBA:p.L483P 315
chr1 155235726 155235727 GBA:p.D448H 371
chr1 155236365 155236366 GBA:p.R368H 384
chr1 155236378 155236379 GBA:p.G364R 382
chr1 155237411 155237412 GBA:p.S310G 311
chr1 155237418 155237419 GBA:p.L307 302
chr1 155237527 155237528 GBA:p.A271G 311
chr1 155238140 155238141 GBA:p.F252I 273
chr1 155238173 155238174 GBA:p.G241A 339
chr1 155238191 155238192 GBA:p.S235P 341
chr1 155238205 155238206 GBA:p.V230G 344
chr1 155238213 155238214 GBA:p.N227L 353
chr1 155238227 155238228 GBA:p.W223R 365
chr1 155238629 155238630 GBA:p.R159W 355
chr1 155239749 155239750 GBA:p.T107I 430
chr1 155240071 155240074 GBA:p.A40Gfs*51 323
chr1 155240628 155240629 GBA:p.G39Efs*8) 143
chr1 155240698 155240699 GBA:p.S16G 196
chr1 155240700 155240701 GBA:p.L15S 196
chr1 155241125 155241126 GBA:c.-14A>G 294
chr1 155241141 155241142 GBA:c.-30G>C 304
chr6 32038514 32038515 CYP21A2:p.P31L 471
chr6 32005780 32005781 CYP21A1P:p.P31L 444
chr6 32039081 32039082 CYP21A2:c.293-13C>G 554
chr6 32006353 32006354 CYP21A1P:c.293-13C>G 219
chr6 32039132 32039140 CYP21A2:p.G111Vfs*21 607
chr6 32006404 32006412 CYP21A1P:p.G111Vfs*21 301
chr6 32039426 32039427 CYP21A2:p.I173N 543
chr6 32006690 32006691 CYP21A1P:p.I173N 542
chr6 32039807 32039808 CYP21A2:p.I237N 631
chr6 32007071 32007072 CYP21A1P:p.I237N 460
chr6 32039810 32039811 CYP21A2:p.V238E 628
chr6 32007074 32007075 CYP21A1P:p.V238E 459
chr6 32039816 32039817 CYP21A2:p.M240K 621
chr6 32007080 32007081 CYP21A1P:p.M240K 454
chr6 32040110 32040111 CYP21A2:p.V282L 558
chr6 32007374 32007375 CYP21A1P:p.V282L 591
chr6 32040182 32040184 CYP21A2:p.L308Ffs*6 639
chr6 32007446 32007448 CYP21A1P:p.L308Ffs*6 595
chr6 32040421 32040422 CYP21A2:p.Q319* 997
chr6 32007686 32007687 CYP21A1P:p.Q319* 184
chr6 32040535 32040536 CYP21A2:p.R357W 874
chr6 32007800 32007801 CYP21A1P:p.R357W 260
80 rows