Data Browser v2

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


Gene: SQSTM1 Variant Count: 42   RVIS Percentile: 34.8844%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
5-179248034-C-T SQSTM1 ENST00000389805 A33V missense 1 807 6.196E-4 12.07
5-179250884-C-T SQSTM1 ENST00000389805 R110C missense 1 2634 1.898E-4 35.0
5-179250906-C-T SQSTM1 ENST00000389805 A117V missense 9 2636 0.0017 11.88
5-179250987-T-A SQSTM1 ENST00000389805 V144D missense 1 2636 1.897E-4 26.3
5-179251013-G-A SQSTM1 ENST00000389805 V153I missense 3 2634 5.695E-4 13.18
5-179251029-G-A SQSTM1 ENST00000389805 G158D missense 1 2633 1.899E-4 24.5
5-179251037-C-T SQSTM1 ENST00000389805 R161W missense 1 2633 1.899E-4 23.0
5-179251069-C-G SQSTM1 ENST00000389805 171P synonymous 1 2627 1.903E-4 6.793
5-179251259-A-G SQSTM1 ENST00000389805 203P synonymous 1 2611 1.915E-4 8.285
5-179251281-C-T SQSTM1 ENST00000389805 P211S missense 1 2607 1.918E-4 12.83
5-179251313-G-A SQSTM1 ENST00000389805 221T synonymous 3 2611 5.745E-4 5.941
5-179251317-G-A SQSTM1 ENST00000389805 E223K missense 1 2606 1.919E-4 10.63
5-179252184-A-G SQSTM1 ENST00000389805 K238E missense 31 2620 0.0059 24.4
5-179260099-G-C SQSTM1 ENST00000389805 E274D missense 119 2637 0.0226 0.118
5-179260101-G-A SQSTM1 ENST00000389805 S275N missense 1 2638 1.895E-4 6.433
5-179260111-AGAG-A SQSTM1 ENST00000389805 E279- inframe deletion 1 2638 1.895E-4 6.441
5-179260153-C-T SQSTM1 ENST00000389805 292D synonymous 1491 1987 0.3752 11.2
5-179260164-C-T SQSTM1 ENST00000389805 P296L missense 1 2626 1.904E-4 13.02
5-179260165-G-A SQSTM1 ENST00000389805 296P synonymous 2 2624 3.811E-4 9.408
5-179260176-T-C SQSTM1 ENST00000389805 V300A missense 1 2615 1.912E-4 0.003
5-179260213-G-A SQSTM1 ENST00000389805 312R synonymous 1299 1830 0.3549 6.194
5-179260231-C-T SQSTM1 ENST00000510187 - splice region 101 2230 0.0226 12.74
5-179260232-G-A SQSTM1 ENST00000389805 E319K missense 2 2206 4.533E-4 6.148
5-179260238-C-T SQSTM1 ENST00000389805 R321C missense 3 2128 7.049E-4 22.8
5-179260239-G-A SQSTM1 ENST00000389805 R321H missense 1 2100 2.381E-4 7.109
5-179260601-G-A SQSTM1 ENST00000389805 328S synonymous 29 2625 0.0055 13.68
5-179260655-G-A SQSTM1 ENST00000389805 346V synonymous 1 2627 1.903E-4 13.22
5-179260661-G-A SQSTM1 ENST00000389805 348P synonymous 1 2630 1.901E-4 11.0
5-179260700-C-T SQSTM1 ENST00000389805 361S synonymous 1 2625 1.905E-4 16.28
5-179260739-C-T SQSTM1 ENST00000389805 374P synonymous 1 2626 1.904E-4 15.01
5-179263445-C-T SQSTM1 ENST00000389805 P392L missense 7 2637 0.0013 34.0
5-179263453-A-AT SQSTM1 ENST00000389805 395 frameshift 1 2638 1.895E-4 35.0
5-179263454-T-C SQSTM1 ENST00000389805 I395T missense 1 2638 1.895E-4 24.6
5-179263480-A-G SQSTM1 ENST00000389805 M404V missense 1 2638 1.895E-4 25.4
5-179263501-G-A SQSTM1 ENST00000389805 G411S missense 1 2637 1.896E-4 34.0
5-179263542-C-T SQSTM1 ENST00000510187 S341L missense 2 2638 3.791E-4 13.62
5-179263547-C-T SQSTM1 ENST00000389805 A426V missense 1 2638 1.895E-4 28.8
5-179263548-G-A SQSTM1 ENST00000510187 R343Q missense 1 2638 1.895E-4 10.39
5-179263583-C-T SQSTM1 ENST00000389805 P438L missense 2 2638 3.791E-4 22.2
5-179264436-T-C C5orf45 ENST00000292586 329L synonymous 2 2637 3.792E-4 0.106
5-179264550-G-A C5orf45 ENST00000292586 291P synonymous 1 2627 1.903E-4 9.66
5-179264584-G-T C5orf45 ENST00000292586 T280N missense 1 2611 1.915E-4 11.06