Data Browser v2

Examples - Gene: TBK1, Region: 21:33032075-33040899, Variant: 14-21162090-G-A


Gene: TAF15 Variant Count: 53   RVIS Percentile: 12.9748%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
17-34147073-A-C TAF15 ENST00000588240 31A synonymous 1 2616 1.911E-4 3.354
17-34147214-A-G TAF15 ENST00000588240 N49S missense 1 2627 1.903E-4 10.96
17-34147219-A-G TAF15 ENST00000588240 S51G missense 1 2625 1.905E-4 12.82
17-34147222-G-A TAF15 ENST00000588240 G52S missense 2 2626 3.808E-4 21.4
17-34147363-A-G TAF15 ENST00000588240 E71G missense 1 2603 1.921E-4 22.9
17-34147425-A-G TAF15 ENST00000588441 M1V initiator codon 1 2595 1.927E-4 0.262
17-34149674-G-A TAF15 ENST00000587272 S79N missense 1 2630 1.901E-4 10.24
17-34149718-A-G TAF15 ENST00000588240 Y122C missense 2 2626 3.808E-4 26.6
17-34149723-C-A TAF15 ENST00000588240 Q124K missense 1 2625 1.905E-4 22.7
17-34149742-A-C TAF15 ENST00000588240 D130A missense 1 2623 1.906E-4 25.0
17-34149820-A-G TAF15 ENST00000588240 Y156C missense 1 2624 1.905E-4 27.0
17-34151127-A-G TAF15 ENST00000588240 Y177C missense 2 2638 3.791E-4 26.8
17-34161574-C-G TAF15 ENST00000588240 H215Q missense 3 2618 5.73E-4 13.8
17-34161582-A-C TAF15 ENST00000588240 Y218S missense 1 2621 1.908E-4 22.2
17-34163188-G-A TAF15 ENST00000588240 242G synonymous 10 2598 0.0019 10.51
17-34171123-G-A TAF15 ENST00000588240 G350D missense 2 2638 3.791E-4 27.0
17-34171308-T-C TAF15 ENST00000588240 371A synonymous 1 2622 1.907E-4 4.659
17-34171358-G-A TAF15 ENST00000588240 R388H missense 6 2624 0.0011 34.0
17-34171525-C-T TAF15 ENST00000588240 R408C missense 2 2636 3.794E-4 27.3
17-34171578-T-C TAF15 ENST00000592237 - splice region 1 2636 1.897E-4 8.159
17-34171590-A-G TAF15 ENST00000588240 429G synonymous 514 2593 0.0991 9.266
17-34171597-A-G TAF15 ENST00000588240 S432G missense 1 2624 1.905E-4 14.91
17-34171600-A-G TAF15 ENST00000588240 S433G missense 1 2624 1.905E-4 10.64
17-34171623-T-C TAF15 ENST00000588240 440D synonymous 2 2616 3.823E-4 3.856
17-34171653-AAGT-A TAF15 ENST00000588240 S451- inframe deletion 3 2592 5.787E-4 14.72
17-34171659-G-C TAF15 ENST00000588240 452G synonymous 2 2586 3.867E-4 10.15
17-34171662-T-C TAF15 ENST00000588240 453G synonymous 4 2582 7.746E-4 9.806
17-34171674-G-A TAF15 ENST00000588240 457G synonymous 6 2583 0.0012 10.82
17-34171683-C-A TAF15 ENST00000588240 460G synonymous 1 2579 1.939E-4 15.27
17-34171686-C-T TAF15 ENST00000588240 461G synonymous 1 2582 1.936E-4 14.23
17-34171695-T-A TAF15 ENST00000588240 464G synonymous 1 2577 1.94E-4 11.71
17-34171707-A-C TAF15 ENST00000588240 468G synonymous 2 2569 3.893E-4 3.355
17-34171722-A-G TAF15 ENST00000588240 473G synonymous 1 2562 1.952E-4 9.658
17-34171726-C-A TAF15 ENST00000588240 475R synonymous 1 2565 1.949E-4 21.0
17-34171727-G-A TAF15 ENST00000588240 R475Q missense 1 2587 1.933E-4 22.9
17-34171729-GGAGGTGGCTATGGAGGAGATC-G TAF15 ENST00000585577 141-? splice donor 3 2588 5.796E-4 -
17-34171734-T-C TAF15 ENST00000585577 - splice donor 4 2571 7.779E-4 6.444
17-34171736-G-A TAF15 ENST00000588240 G478D missense 1 2588 1.932E-4 19.94
17-34171827-C-T TAF15 ENST00000588240 508Y synonymous 608 2582 0.1177 12.01
17-34171828-G-A TAF15 ENST00000588240 G509R missense 1 2610 1.916E-4 22.8
17-34171848-T-C TAF15 ENST00000588240 515Y synonymous 2 2614 3.826E-4 4.056
17-34171927-G-A TAF15 ENST00000588240 G542S missense 2 2633 3.798E-4 22.4
17-34171965-TGGTGGCGGCTATGGAGGAGACCGA-T TAF15 ENST00000588240 GGGYGGDR555-562- inframe deletion 1 2635 1.898E-4 18.18
17-34171971-C-T TAF15 ENST00000592237 A361V missense 1 2634 1.898E-4 17.54
17-34171971-CGGCTATGGAGGAGACCGAGGTGGG-C TAF15 ENST00000588240 GYGGDRGG557-564- inframe deletion 1 2634 1.898E-4 -
17-34171974-C-T TAF15 ENST00000592237 A362V missense 1 2634 1.898E-4 14.06
17-34171977-T-C TAF15 ENST00000592237 M363T missense 1 2634 1.898E-4 1.289
17-34171977-TGGAGGAGACCGAGGTGGGGGCTAC-T TAF15 ENST00000588240 GGDRGGGY559-566- inframe deletion 2 2634 3.797E-4 18.1
17-34182393-A-G C17orf66 ENST00000311880 C463R missense 1 2625 1.905E-4 1.739
17-34183765-C-T C17orf66 ENST00000311880 399L synonymous 1 2528 1.978E-4 7.407
17-34185239-G-A C17orf66 ENST00000311880 373L synonymous 1 2638 1.895E-4 4.766
17-34185254-C-T C17orf66 ENST00000311880 E368K missense 1 2638 1.895E-4 9.938
17-34191249-C-T C17orf66 ENST00000311880 - splice donor 1 2624 1.905E-4 26.3