386620 chr16:21689842:C>G OTOA NM_144672:p.Gln3Glu NM_144672:c.7C>G EXON1 Unknown significance rs769673166 This variant is a VUS because it does not have enough information. 0.932 N 0.025;0.029 D 0.571 P 0.177234 N 0.999999 N 3.72 C 0 10402 0 0 11546 0 0 8650 0 1 6610 0.000151286 0 66630 0 0 906 0 0 16450 0 1 121194 8.25123e-06 386621 chr16:21689848:C>T OTOA NM_144672:p.Pro5Ser NM_144672:c.13C>T EXON1 Likely benign rs774328343 Pathogenicity is based on prediction data only. 1 out of 6 predictions were pathogenic. -0.331 N 0.058;0.065 T 0.027 B 0.036466 N 0.999987 N 1.56 C 0 10402 0 0 11558 0 0 8650 0 0 6612 0 1 66682 1.49966e-05 0 906 0 0 16478 0 1 121288 8.24484e-06 386622 chr16:21689852:C>T OTOA NM_144672:p.Thr6Met NM_144672:c.17C>T EXON1 Likely benign rs144912852 Pathogenicity is based on prediction data only. 1 out of 6 predictions were pathogenic. -2.439 N 0.044;0.041 D 0.087 B 0.092515 N 1 N -1.03 N 0 8600 0 1 4398 0.000227376 1 12998 7.69349e-05 1 10402 9.61354e-05 0 11564 0 0 8652 0 0 6612 0 0 66694 0 0 906 0 0 16488 0 1 121318 8.2428e-06 386623 chr16:21689853:G>A OTOA NM_144672:p.Thr6Thr NM_144672:c.18G>A EXON1 Unknown significance rs776083450 This variant is a VUS because it does not have enough information. 0 10402 0 0 11566 0 0 8652 0 0 6612 0 1 66700 1.49925e-05 0 906 0 2 16492 0.000121271 3 121330 2.4726e-05 386624 chr16:21689858:->AC OTOA NM_144672:c.23_24insAC EXON1 Unknown significance rs751802266 This variant is a VUS because it does not have enough information. 0 10402 0 0 11570 0 0 8652 0 0 6612 0 1 66714 1.49894e-05 0 906 0 0 16500 0 1 121356 8.24022e-06 386625 chr16:21689859:C>T OTOA NM_144672:p.Tyr8Tyr NM_144672:c.24C>T EXON1 Unknown significance rs775840011 This variant is a VUS because it does not have enough information. 0 10402 0 0 11570 0 0 8652 0 0 6612 0 0 66716 0 0 906 0 3 16500 0.000181818 3 121358 2.47202e-05 386626 chr16:21689861:C>T OTOA NM_144672:p.Ser9Phe NM_144672:c.26C>T EXON1 Likely benign rs148606491 Pathogenicity is based on prediction data only. 0 out of 6 predictions were pathogenic. -0.374 N 0.409;0.524 T 0.0 B 0.771305 N 1 N -2.98 N 0 8600 0 4 4398 0.000909504 4 12998 0.00030774 16 10402 0.00153817 0 11570 0 0 8654 0 1 6612 0.00015124 0 66716 0 0 906 0 0 16500 0 17 121360 0.000140079 386627 chr16:21689863:C>T OTOA NM_144672:p.Leu10Phe NM_144672:c.28C>T EXON1 Likely benign rs546735877 Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic. 0.068 N 0.0 D 0.033 B 0.114661 N 1 N 0.973 C 0 1322 0 0 1006 0 0 694 0 0 1008 0 2 978 0.002 2 5008 0.000399361 0 10402 0 0 11572 0 0 8654 0 0 6612 0 0 66716 0 0 906 0 11 16502 0.000666586 11 121364 9.06364e-05 386628 chr16:21689870:T>G OTOA NM_144672:p.Leu12Arg NM_144672:c.35T>G EXON1 Unknown significance rs754205689 This variant is a VUS because it does not have enough information. 1.058 C 0.0 D 1.0 D 0.000782 D 0.946496 D 5.77 C 0 10402 0 0 11572 0 1 8654 0.000115554 0 6612 0 0 66722 0 0 908 0 0 16504 0 1 121374 8.239e-06 386629 chr16:21689879:T>A OTOA NM_144672:p.Phe15Tyr NM_144672:c.44T>A EXON1 Benign rs78970023 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 0.139 N 0.03;0.033 D 0.779 P 0.00948 N 0.999296 P 4.67 C 95 8600 0.0110465 343 4398 0.07799 438 12998 0.0336975 8 400 0.02 40 320 0.125 17 320 0.053125 260 400 0.65 3 360 0.00833333 16 200 0.08 344 2000 0.172 127 1322 0.0961 14 1006 0.0139 107 694 0.1542 227 1008 0.2252 41 978 0.0419 516 5008 0.103035 840 10402 0.0807537 2829 11570 0.244512 2231 8646 0.258038 80 6612 0.0120992 896 66722 0.0134289 48 908 0.0528634 645 16510 0.0390672 7569 121370 0.062363 386630 chr16:21689891:G>A OTOA NM_144672:p.Gly19Glu NM_144672:c.56G>A EXON1 Unknown significance rs765770190 This variant is a VUS because it does not have enough information. 1.045 C 0.049;0.059 D;T 0.493 P 0.750827 N 0.980632 N 3.83 C 0 10402 0 0 11572 0 1 8654 0.000115554 0 6612 0 0 66722 0 0 908 0 0 16510 0 1 121380 8.23859e-06 386631 chr16:21689892:A>C OTOA NM_144672:p.Gly19Gly NM_144672:c.57A>C EXON1 Unknown significance rs749912295 This variant is a VUS because it does not have enough information. 0 10402 0 0 11572 0 0 8654 0 0 6612 0 1 66722 1.49876e-05 0 908 0 0 16510 0 1 121380 8.23859e-06 386632 chr16:21689892:A>T OTOA NM_144672:p.Gly19Gly NM_144672:c.57A>T EXON1 Unknown significance rs749912295 This variant is a VUS because it does not have enough information. 0 10402 0 0 11572 0 2 8654 0.000231107 0 6612 0 0 66722 0 0 908 0 0 16510 0 2 121380 1.64772e-05 386633 chr16:21689893:G>A OTOA NM_144672:p.Val20Met NM_144672:c.58G>A EXON1 Unknown significance rs779422476 This variant is a VUS because it does not have enough information. 1.045 C 0.038;0.041 D 0.986 D 0.288215 N 0.999997 N 3.77 C 0 10402 0 0 11572 0 0 8654 0 0 6612 0 1 66722 1.49876e-05 0 908 0 0 16510 0 1 121380 8.23859e-06 386634 chr16:21689893:G>C OTOA NM_144672:p.Val20Leu NM_144672:c.58G>C EXON1 Unknown significance rs779422476 This variant is a VUS because it does not have enough information. 1.045 C 0.096;0.105 T 0.729 P 0.288215 N 0.999997 N 3.77 C 0 10402 0 0 11572 0 1 8654 0.000115554 0 6612 0 0 66722 0 0 908 0 0 16510 0 1 121380 8.23859e-06 386635 chr16:21689897:C>T OTOA NM_144672:p.Ser21Leu NM_144672:c.62C>T EXON1 Unknown significance rs754607351 This variant is a VUS because it does not have enough information. 0.932 N 0.008 D 0.531 P 0.18714 N 1 N 2.74 C 2 10402 0.000192271 0 11572 0 0 8654 0 0 6612 0 0 66720 0 0 908 0 0 16508 0 2 121376 1.64777e-05 386636 chr16:21689898:G>A OTOA NM_144672:p.Ser21Ser NM_144672:c.63G>A EXON1 Unknown significance rs780990149 This variant is a VUS because it does not have enough information. 0 10402 0 0 11568 0 0 8654 0 0 6612 0 1 66716 1.49889e-05 0 908 0 0 16508 0 1 121368 8.2394e-06 386637 chr16:21689905:A>G OTOA NM_144672:p.Thr24Ala NM_144672:c.70A>G EXON1 Likely benign rs747900321 Pathogenicity is based on prediction data only. 0 out of 6 predictions were pathogenic. 0.235 N 0.683;0.711 T 0.0 B 0.280795 N 1 N -0.851 N 0 10402 0 0 11566 0 0 8654 0 0 6612 0 0 66716 0 0 908 0 1 16506 6.0584e-05 1 121364 8.23968e-06 386638 chr16:21689928:T>G OTOA NM_144672:c.91+2T>G INTRON1 Unknown significance This variant is a VUS because it does not have enough information. 1.058 C 1 D 4.65 C 0 400 0 0 320 0 0 320 0 0 400 0 0 360 0 0 200 0 0 2000 0 386639 chr16:21689929:A>G OTOA NM_144672:c.91+3A>G INTRON1 Unknown significance rs769730051 This variant is a VUS because it does not have enough information. 0 10398 0 0 11556 0 0 8654 0 0 6612 0 2 66662 3.00021e-05 0 906 0 0 16480 0 2 121268 1.64924e-05 386640 chr16:21689940:G>A OTOA NM_144672:c.91+14G>A INTRON1 Unknown significance rs777710266 This variant is a VUS because it does not have enough information. 1 10394 9.62094e-05 0 11548 0 0 8654 0 0 6612 0 0 66634 0 0 906 0 0 16464 0 1 121212 8.25001e-06 386641 chr16:21689950:C>T OTOA NM_144672:c.91+24C>T INTRON1 Unknown significance rs185354413 This variant is a VUS because it does not have enough information. 1 8600 0.000116279 0 4398 0 1 12998 7.69349e-05 0 10392 0 0 11540 0 0 8652 0 0 6612 0 11 66590 0.00016519 0 904 0 0 16454 0 11 121144 9.0801e-05 386642 chr16:21689956:T>C OTOA NM_144672:c.91+30T>C INTRON1 Unknown significance rs772261529 This variant is a VUS because it does not have enough information. 0 10390 0 0 11530 0 0 8648 0 0 6612 0 1 66584 1.50186e-05 0 904 0 0 16446 0 1 121114 8.25668e-06 386643 chr16:21689958:G>A OTOA NM_144672:c.91+32G>A INTRON1 Unknown significance rs775409513 This variant is a VUS because it does not have enough information. 0 10384 0 0 11534 0 0 8648 0 0 6610 0 1 66562 1.50236e-05 0 904 0 0 16446 0 1 121088 8.25846e-06 386644 chr16:21689965:C>A OTOA NM_144672:c.91+39C>A INTRON1 Unknown significance rs761000445 This variant is a VUS because it does not have enough information. 0 10378 0 0 11516 0 0 8648 0 0 6608 0 1 66534 1.50299e-05 0 904 0 0 16426 0 1 121014 8.26351e-06 386645 chr16:21689970:->T OTOA NM_144672:c.91+44_91+45insT INTRON1 Unknown significance rs755401766 This variant is a VUS because it does not have enough information. 4 10370 0.000385728 0 11516 0 0 8642 0 0 6608 0 0 66510 0 0 904 0 0 16428 0 4 120978 3.30639e-05 386646 chr16:21689975:G>A OTOA NM_144672:c.91+49G>A INTRON1 Unknown significance rs535438314 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 0 10358 0 0 11498 0 1 8628 0.000115902 0 6602 0 0 66386 0 0 900 0 0 16402 0 1 120774 8.27993e-06 386647 chr16:21689976:G>A OTOA NM_144672:c.91+50G>A INTRON1 Unknown significance rs777138490 This variant is a VUS because it does not have enough information. 0 10362 0 0 11504 0 0 8624 0 0 6604 0 2 66376 3.01314e-05 0 900 0 0 16398 0 2 120768 1.65607e-05 386648 chr16:21689978:A>G OTOA NM_144672:c.91+52A>G INTRON1 Unknown significance rs762208638 This variant is a VUS because it does not have enough information. 0 10362 0 0 11504 0 0 8626 0 0 6600 0 1 66366 1.5068e-05 0 900 0 0 16400 0 1 120758 8.28102e-06 386649 chr16:21690046:T>C OTOA NM_144672:c.91+120T>C INTRON1 Unknown significance rs556681772 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 4 978 0.0041 4 5008 0.000798722 386650 chr16:21690087:C>T OTOA NM_144672:c.92-149C>T INTRON1 Unknown significance rs576715493 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 386651 chr16:21690096:CA>- OTOA NM_144672:c.92-140_92-139delCA INTRON1 Unknown significance rs542559376 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 4 1008 0.004 0 978 0 4 5008 0.000798722 386652 chr16:21690100:G>A OTOA NM_144672:c.92-136G>A INTRON1 Unknown significance rs764278603 This variant is a VUS because it does not have enough information. 386653 chr16:21690174:A>T OTOA NM_144672:c.92-62A>T INTRON1 Benign rs534194706 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 0 1322 0 0 1006 0 0 694 0 0 1008 0 5 978 0.0051 5 5008 0.000998403 386654 chr16:21690178:G>A OTOA NM_144672:c.92-58G>A INTRON1 Unknown significance rs558754565 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386655 chr16:21690185:T>C OTOA NM_144672:c.92-51T>C INTRON1 Unknown significance rs765503180 This variant is a VUS because it does not have enough information. 0 10148 0 0 11564 0 0 8624 0 0 6608 0 1 66560 1.5024e-05 0 904 0 0 16506 0 1 120914 8.27034e-06 386656 chr16:21690190:G>A OTOA NM_144672:c.92-46G>A INTRON1 Unknown significance rs751002817 This variant is a VUS because it does not have enough information. 0 10158 0 0 11566 0 0 8624 0 5 6608 0.000756659 0 66564 0 0 904 0 0 16506 0 5 120930 4.13462e-05 386657 chr16:21690191:T>A OTOA NM_144672:c.92-45T>A INTRON1 Unknown significance rs369994436 This variant is a VUS because it does not have enough information. 1 8600 0.000116279 0 4398 0 1 12998 7.69349e-05 0 10162 0 0 11566 0 0 8622 0 0 6608 0 1 66564 1.50231e-05 0 904 0 0 16504 0 1 120930 8.26925e-06 386658 chr16:21690192:C>G OTOA NM_144672:c.92-44C>G INTRON1 Unknown significance rs765965770 This variant is a VUS because it does not have enough information. 1 10170 9.83284e-05 0 11566 0 0 8624 0 0 6606 0 0 66562 0 0 904 0 0 16506 0 1 120938 8.2687e-06 386659 chr16:21690214:A>G OTOA NM_144672:c.92-22A>G INTRON1 Unknown significance rs750987667 This variant is a VUS because it does not have enough information. 0 10268 0 0 11568 0 0 8636 0 0 6612 0 0 66604 0 0 908 0 9 16510 0.000545124 9 121106 7.43151e-05 386660 chr16:21690215:C>G OTOA NM_144672:c.92-21C>G INTRON1 Unknown significance rs754658744 This variant is a VUS because it does not have enough information. 0 10272 0 0 11568 0 0 8638 0 0 6612 0 3 66612 4.50369e-05 0 908 0 0 16510 0 3 121120 2.47688e-05 386661 chr16:21690216:A>C OTOA NM_144672:c.92-20A>C INTRON1 Unknown significance rs767091787 This variant is a VUS because it does not have enough information. 0 10290 0 0 11570 0 0 8640 0 0 6612 0 1 66620 1.50105e-05 0 908 0 0 16510 0 1 121150 8.25423e-06 386662 chr16:21690219:C>G OTOA NM_144672:c.92-17C>G INTRON1 Unknown significance rs180736579 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 2 5008 0.000399361 0 10300 0 1 11570 8.64304e-05 0 8640 0 0 6612 0 0 66642 0 0 908 0 0 16510 0 1 121182 8.25205e-06 386663 chr16:21690225:C>A OTOA NM_144672:c.92-11C>A INTRON1 Benign rs117553471 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 5 8600 0.000581395 0 4398 0 5 12998 0.000384675 0 400 0 0 320 0 1 320 0.003125 24 400 0.06 0 360 0 3 200 0.015 28 2000 0.014 0 1322 0 8 1006 0.008 1 694 0.0014 96 1008 0.0952 7 978 0.0072 112 5008 0.0223642 3 10340 0.000290135 3 11574 0.000259202 705 8648 0.0815217 384 6612 0.0580762 230 66680 0.00344931 17 908 0.0187225 110 16510 0.00666263 1452 121272 0.0119731 386664 chr16:21690225:C>T OTOA NM_144672:c.92-11C>T INTRON1 Unknown significance rs117553471 This variant is a VUS because it does not have enough information. 0 10340 0 0 11574 0 0 8648 0 0 6612 0 0 66680 0 0 908 0 5 16510 0.000302847 5 121272 4.12296e-05 386665 chr16:21690235:G>T OTOA NM_144672:c.92-1G>T INTRON1 Unknown significance rs376382794 This variant is a VUS because it does not have enough information. 1.045 C 1 D 6.02 C 1 8600 0.000116279 0 4398 0 1 12998 7.69349e-05 0 10366 0 0 11574 0 0 8654 0 0 6614 0 2 66714 2.99787e-05 0 908 0 0 16510 0 2 121340 1.64826e-05 386666 chr16:21690236:A>T OTOA NM_144672:p.Asp31Val NM_144672:c.92A>T EXON2 Unknown significance rs766274586 This variant is a VUS because it does not have enough information. 1.194 C 0.002 D 0.997 D 0.000119 D 1 D 6.02 C 0 10368 0 0 11574 0 0 8654 0 0 6614 0 1 66720 1.4988e-05 0 908 0 0 16510 0 1 121348 8.24076e-06 386667 chr16:21690240:G>T OTOA NM_144672:p.Leu32Phe NM_144672:c.96G>T EXON2 Unknown significance rs372826296 This variant is a VUS because it does not have enough information. -0.22 N 0.076;0.079 T 1.0 D 1.1e-05 D 0.993749 D 4.07 C 0 10380 0 0 11576 0 3 8654 0.000346661 0 6614 0 0 66726 0 0 908 0 0 16510 0 3 121368 2.47182e-05 386668 chr16:21690245:C>T OTOA NM_144672:p.Pro34Leu NM_144672:c.101C>T EXON2 Unknown significance rs747016683 This variant is a VUS because it does not have enough information. 0.932 N 0.0 D 0.999 D 0.00018 D 1 D 6.02 C 0 10382 0 0 11576 0 0 8654 0 0 6614 0 1 66730 1.49858e-05 0 908 0 0 16510 0 1 121374 8.239e-06 386669 chr16:21690247:T>C OTOA NM_144672:p.Leu35Leu NM_144672:c.103T>C EXON2 Unknown significance rs769011374 This variant is a VUS because it does not have enough information. 0 10384 0 1 11576 8.63856e-05 0 8654 0 0 6614 0 2 66734 2.99697e-05 0 908 0 0 16510 0 3 121380 2.47158e-05 386670 chr16:21690248:T>C OTOA NM_144672:p.Leu35Ser NM_144672:c.104T>C EXON2 Unknown significance rs777048518 This variant is a VUS because it does not have enough information. 1.058 C 0.004;0.005 D 0.992 D 0.023865 N 0.576162 D 6.02 C 0 10384 0 0 11576 0 0 8654 0 0 6614 0 1 66734 1.49849e-05 0 908 0 0 16510 0 1 121380 8.23859e-06 386671 chr16:21690252:G>A OTOA NM_144672:p.Leu36Leu NM_144672:c.108G>A EXON2 Unknown significance rs748373663 This variant is a VUS because it does not have enough information. 0 10388 0 0 11576 0 0 8654 0 0 6614 0 1 66736 1.49844e-05 0 908 0 0 16510 0 1 121386 8.23818e-06 386672 chr16:21690258:C>T OTOA NM_144672:p.Asn38Asn NM_144672:c.114C>T EXON2 Unknown significance rs770229981 This variant is a VUS because it does not have enough information. 0 10392 0 0 11576 0 0 8654 0 0 6614 0 1 66736 1.49844e-05 0 908 0 0 16510 0 1 121390 8.23791e-06 386673 chr16:21690263:C>T OTOA NM_144672:p.Ala40Val NM_144672:c.119C>T EXON2 Likely benign rs201061211 Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic. 0.065 N 0.136;0.16 T 0.597 P 0.002761 N 0.545585 N 6.02 C 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 0 10392 0 0 11576 0 0 8654 0 0 6614 0 0 66734 0 0 908 0 2 16510 0.000121139 2 121388 1.64761e-05 386674 chr16:21690264:G>A OTOA NM_144672:p.Ala40Ala NM_144672:c.120G>A EXON2 Unknown significance rs763543175 This variant is a VUS because it does not have enough information. 0 10392 0 0 11576 0 1 8654 0.000115554 0 6614 0 0 66734 0 0 908 0 1 16510 6.05694e-05 2 121388 1.64761e-05 386675 chr16:21690264:G>T OTOA NM_144672:p.Ala40Ala NM_144672:c.120G>T EXON2 Unknown significance rs763543175 This variant is a VUS because it does not have enough information. 0 10392 0 0 11576 0 0 8654 0 0 6614 0 1 66734 1.49849e-05 0 908 0 0 16510 0 1 121388 8.23805e-06 386676 chr16:21690266:T>G OTOA NM_144672:c.120+2T>G INTRON2 Unknown significance rs79223811 This variant is a VUS because it does not have enough information. 1.058 C 1 D 6.02 C 386677 chr16:21690268:A>G OTOA NM_144672:c.120+4A>G INTRON2 Unknown significance rs74554742 This variant is a VUS because it does not have enough information. 386678 chr16:21690274:C>- OTOA NM_144672:c.120+10delC INTRON2 Unknown significance rs780808160 This variant is a VUS because it does not have enough information. 0 10396 0 0 11576 0 1 8654 0.000115554 0 6614 0 0 66736 0 0 908 0 0 16510 0 1 121394 8.23764e-06 386679 chr16:21690274:C>G OTOA NM_144672:c.120+10C>G INTRON2 Likely benign 24033266 rs200215069 Pathogenicity is based on ClinVar submissions. All submitters agree with this pathogenicity. 6 8600 0.000697674 0 4398 0 6 12998 0.000461609 0 10396 0 2 11576 0.000172771 0 8652 0 0 6614 0 51 66738 0.000764182 0 908 0 0 16510 0 53 121394 0.000436595 386680 chr16:21690293:G>A OTOA NM_144672:c.120+29G>A INTRON2 Unknown significance rs758989932 This variant is a VUS because it does not have enough information. 0 10398 0 1 11578 8.63707e-05 0 8654 0 0 6614 0 0 66736 0 0 908 0 0 16510 0 1 121398 8.23737e-06 386681 chr16:21690296:C>A OTOA NM_144672:c.120+32C>A INTRON2 Unknown significance rs551512393 This variant is a VUS because it does not have enough information. 0 10400 0 0 11578 0 0 8654 0 0 6614 0 0 66736 0 0 908 0 1 16510 6.05694e-05 1 121400 8.23723e-06 386682 chr16:21690296:C>G OTOA NM_144672:c.120+32C>G INTRON2 Unknown significance rs551512393 This variant is a VUS because it does not have enough information. 386683 chr16:21690297:C>T OTOA NM_144672:c.120+33C>T INTRON2 Unknown significance rs574312459 This variant is a VUS because it does not have enough information. 0 10400 0 0 11578 0 0 8654 0 0 6614 0 3 66736 4.49532e-05 0 908 0 1 16510 6.05694e-05 4 121400 3.29489e-05 386684 chr16:21690302:A>G OTOA NM_144672:c.120+38A>G INTRON2 Unknown significance rs755692387 This variant is a VUS because it does not have enough information. 2 10402 0.000192271 0 11578 0 0 8654 0 0 6614 0 0 66736 0 0 908 0 0 16510 0 2 121402 1.64742e-05 386685 chr16:21690304:T>C OTOA NM_144672:c.120+40T>C INTRON2 Unknown significance rs185776371 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 386686 chr16:21690305:G>A OTOA NM_144672:c.120+41G>A INTRON2 Unknown significance rs765036142 This variant is a VUS because it does not have enough information. 0 10402 0 0 11578 0 0 8654 0 0 6614 0 1 66736 1.49844e-05 0 908 0 0 16510 0 1 121402 8.2371e-06 386687 chr16:21690307:A>G OTOA NM_144672:c.120+43A>G INTRON2 Unknown significance rs753536066 This variant is a VUS because it does not have enough information. 0 10402 0 0 11578 0 0 8654 0 0 6614 0 0 66736 0 0 908 0 2 16510 0.000121139 2 121402 1.64742e-05 386688 chr16:21690312:C>A OTOA NM_144672:c.121-45C>A INTRON2 Unknown significance rs757221313 This variant is a VUS because it does not have enough information. 0 10402 0 0 11578 0 0 8654 0 2 6614 0.000302389 0 66740 0 0 908 0 0 16510 0 2 121406 1.64737e-05 386689 chr16:21690314:A>G OTOA NM_144672:c.121-43A>G INTRON2 Unknown significance rs778657034 This variant is a VUS because it does not have enough information. 0 10402 0 0 11578 0 0 8654 0 0 6614 0 0 66740 0 0 908 0 1 16510 6.05694e-05 1 121406 8.23683e-06 386690 chr16:21690322:G>A OTOA NM_144672:c.121-35G>A INTRON2 Unknown significance rs372912040 This variant is a VUS because it does not have enough information. 0 10402 0 0 11578 0 0 8654 0 0 6614 0 0 66740 0 0 908 0 1 16510 6.05694e-05 1 121406 8.23683e-06 386691 chr16:21690322:G>C OTOA NM_144672:c.121-35G>C INTRON2 Unknown significance rs372912040 This variant is a VUS because it does not have enough information. 0 8600 0 1 4398 0.000227376 1 12998 7.69349e-05 386692 chr16:21690329:T>C OTOA NM_144672:c.121-28T>C INTRON2 Unknown significance rs367724540 This variant is a VUS because it does not have enough information. 0 8600 0 3 4398 0.000682128 3 12998 0.000230805 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 7 10402 0.000672948 2 11578 0.000172741 0 8654 0 0 6614 0 0 66740 0 0 908 0 0 16510 0 9 121406 7.41314e-05 386693 chr16:21690335:A>G OTOA NM_144672:c.121-22A>G INTRON2 Unknown significance rs781385117 This variant is a VUS because it does not have enough information. 0 10406 0 0 11578 0 0 8654 0 0 6614 0 0 66740 0 0 908 0 3 16510 0.000181708 3 121410 2.47097e-05 386694 chr16:21690337:G>A OTOA NM_144672:c.121-20G>A INTRON2 Benign rs7187792 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 4 8600 0.000465116 63 4398 0.0143247 67 12998 0.00515464 0 400 0 1 320 0.003125 0 320 0 0 400 0 0 360 0 0 200 0 1 2000 0.0005 23 1322 0.0174 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 24 5008 0.00479233 185 10406 0.0177782 16 11578 0.00138193 0 8654 0 0 6614 0 7 66740 0.000104885 0 908 0 1 16510 6.05694e-05 209 121410 0.00172144 386695 chr16:21690338:T>C OTOA NM_144672:c.121-19T>C INTRON2 Unknown significance rs369373625 This variant is a VUS because it does not have enough information. 0 8600 0 1 4398 0.000227376 1 12998 7.69349e-05 1 10406 9.60984e-05 0 11578 0 0 8654 0 0 6614 0 0 66740 0 0 908 0 0 16510 0 1 121410 8.23655e-06 386696 chr16:21690350:C>T OTOA NM_144672:c.121-7C>T INTRON2 Unknown significance rs773660453 This variant is a VUS because it does not have enough information. 0 10406 0 0 11578 0 0 8654 0 0 6614 0 3 66740 4.49506e-05 0 908 0 0 16510 0 3 121410 2.47097e-05 386697 chr16:21690353:T>G OTOA NM_144672:c.121-4T>G INTRON2 Unknown significance rs749551809 This variant is a VUS because it does not have enough information. 0 10406 0 0 11578 0 1 8654 0.000115554 0 6614 0 0 66738 0 0 908 0 0 16510 0 1 121408 8.23669e-06 386698 chr16:21690367:T>C OTOA NM_144672:p.Ile44Thr NM_144672:c.131T>C EXON3 Unknown significance 24033266 rs730882117 Pathogenicity is based on ClinVar submissions. All submitters agree with this pathogenicity. 1.058 C 0.004 D 0.996 D 4e-06 D 0.994299 D 6.02 C 0 10406 0 0 11578 0 0 8654 0 0 6614 0 6 66740 8.99011e-05 0 908 0 0 16510 0 6 121410 4.94193e-05 386699 chr16:21690374:A>G OTOA NM_144672:p.Gly46Gly NM_144672:c.138A>G EXON3 Unknown significance rs530866594 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 1 10406 9.60984e-05 0 11578 0 0 8654 0 0 6614 0 0 66740 0 0 908 0 0 16510 0 1 121410 8.23655e-06 386700 chr16:21690375:A>G OTOA NM_144672:p.Ser47Gly NM_144672:c.139A>G EXON3 Unknown significance rs757845701 This variant is a VUS because it does not have enough information. 1.194 C 0.072;0.085 T 0.571 P 0.015236 N 0.988392 N 2.44 C 386701 chr16:21690388:G>A OTOA NM_144672:c.151+1G>A INTRON3 Pathogenic Hearing loss, non-syndromic, autosomal recessive 04/10/2015 -- Manually curated by the MORL. 1.045 C 1 D 6.02 C 386702 chr16:21690391:A>G OTOA NM_144672:c.151+4A>G INTRON3 Unknown significance rs760032419 This variant is a VUS because it does not have enough information. 0 10406 0 0 11578 0 1 8654 0.000115554 0 6614 0 0 66740 0 0 908 0 0 16510 0 1 121410 8.23655e-06 386703 chr16:21690395:G>A OTOA NM_144672:c.151+8G>A INTRON3 Unknown significance rs552163112 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 0 10406 0 0 11578 0 0 8654 0 0 6614 0 0 66736 0 0 908 0 3 16510 0.000181708 3 121406 2.47105e-05 386704 chr16:21690396:->C OTOA NM_144672:c.151+9_151+10insC INTRON3 Unknown significance rs752396507 This variant is a VUS because it does not have enough information. 0 10406 0 1 11578 8.63707e-05 0 8654 0 0 6614 0 1 66736 1.49844e-05 0 908 0 7 16510 0.000423985 9 121406 7.41314e-05 386705 chr16:21690396:C>T OTOA NM_144672:c.151+9C>T INTRON3 Unknown significance rs774931605 This variant is a VUS because it does not have enough information. 0 10406 0 0 11576 0 0 8654 0 0 6614 0 0 66736 0 0 908 0 7 16496 0.000424345 7 121390 5.76654e-05 386706 chr16:21690403:G>A OTOA NM_144672:c.151+16G>A INTRON3 Unknown significance rs372055857 This variant is a VUS because it does not have enough information. 3 8600 0.000348837 0 4398 0 3 12998 0.000230805 0 10406 0 0 11578 0 0 8654 0 0 6614 0 7 66738 0.000104888 0 908 0 0 16510 0 7 121408 5.76568e-05 386707 chr16:21690405:T>A OTOA NM_144672:c.151+18T>A INTRON3 Unknown significance rs375683455 This variant is a VUS because it does not have enough information. 0 8600 0 1 4398 0.000227376 1 12998 7.69349e-05 1 10406 9.60984e-05 0 11578 0 0 8654 0 0 6614 0 0 66738 0 0 908 0 0 16510 0 1 121408 8.23669e-06 386708 chr16:21690430:T>G OTOA NM_144672:c.151+43T>G INTRON3 Unknown significance rs753679538 This variant is a VUS because it does not have enough information. 0 10406 0 0 11578 0 0 8654 0 0 6614 0 1 66738 1.4984e-05 0 908 0 0 16512 0 1 121410 8.23655e-06 386709 chr16:21690434:A>G OTOA NM_144672:c.151+47A>G INTRON3 Unknown significance rs761568367 This variant is a VUS because it does not have enough information. 2 10406 0.000192197 1 11578 8.63707e-05 0 8654 0 0 6614 0 3 66738 4.49519e-05 0 908 0 0 16512 0 6 121410 4.94193e-05 386710 chr16:21690476:G>A OTOA NM_144672:c.152-29G>A INTRON3 Unknown significance rs765116960 This variant is a VUS because it does not have enough information. 0 10370 0 0 11574 0 0 8654 0 0 6614 0 2 66734 2.99697e-05 0 908 0 0 16512 0 2 121366 1.64791e-05 386711 chr16:21690481:C>A OTOA NM_144672:c.152-24C>A INTRON3 Unknown significance rs750421991 This variant is a VUS because it does not have enough information. 0 10360 0 0 11574 0 0 8654 0 0 6614 0 1 66728 1.49862e-05 0 908 0 0 16512 0 1 121350 8.24063e-06 386712 chr16:21690487:A>G OTOA NM_144672:c.152-18A>G INTRON3 Unknown significance rs758384344 This variant is a VUS because it does not have enough information. 0 10344 0 6 11574 0.000518403 0 8654 0 0 6614 0 0 66732 0 1 908 0.00110132 0 16512 0 7 121338 5.76901e-05 386713 chr16:21690497:C>T OTOA NM_144672:c.152-8C>T INTRON3 Unknown significance rs781448216 This variant is a VUS because it does not have enough information. 0 10294 0 0 11574 0 0 8654 0 0 6614 0 0 66730 0 0 908 0 2 16512 0.000121124 2 121286 1.64899e-05 386714 chr16:21690511:T>C OTOA NM_144672:p.Leu53Pro NM_144672:c.158T>C EXON4 Unknown significance rs752789222 This variant is a VUS because it does not have enough information. 1.058 C 0.001 D 1.0 D 0.002543 N 0.999999 D 5.99 C 0 10232 0 0 11574 0 0 8654 0 0 6614 0 1 66726 1.49867e-05 0 908 0 0 16512 0 1 121220 8.24946e-06 386715 chr16:21690522:C>T OTOA NM_144672:p.Gln57Stop NM_144672:c.169C>T EXON4 Unknown significance rs756365553 This variant is a VUS because it does not have enough information. 0.932 N 0.050608 N 1 A 5.99 C 0 10172 0 0 11574 0 0 8654 0 0 6614 0 1 66712 1.49898e-05 0 908 0 0 16512 0 1 121146 8.2545e-06 386716 chr16:21690524:G>C OTOA NM_144672:p.Gln57His NM_144672:c.171G>C EXON4 Likely benign Pathogenicity is based on prediction data only. 1 out of 6 predictions were pathogenic. -0.204 N 0.321;0.366 T 0.01 B 0.050608 N 0.997407 N 2.96 C 0 400 0 1 320 0.003125 0 320 0 0 400 0 0 360 0 0 200 0 1 2000 0.0005 386717 chr16:21690526:T>C OTOA NM_144672:p.Phe58Ser NM_144672:c.173T>C EXON4 Unknown significance rs777803753 This variant is a VUS because it does not have enough information. 1.058 C 0.001 D 0.999 D 1e-06 D 0.999062 D 5.99 C 0 10156 0 0 11574 0 0 8654 0 0 6614 0 1 66704 1.49916e-05 0 908 0 0 16512 0 1 121122 8.25614e-06 386718 chr16:21690541:C>G OTOA NM_144672:c.179+9C>G INTRON4 Unknown significance rs749514289 This variant is a VUS because it does not have enough information. 0 10092 0 2 11574 0.000172801 0 8654 0 0 6614 0 0 66674 0 0 906 0 0 16508 0 2 121022 1.65259e-05 386719 chr16:21690542:C>G OTOA NM_144672:c.179+10C>G INTRON4 Unknown significance rs746658126 This variant is a VUS because it does not have enough information. 386720 chr16:21690559:G>A OTOA NM_144672:c.179+27G>A INTRON4 Benign rs12445216 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 761 8596 0.0885295 1632 4392 0.371585 2393 12988 0.184247 47 400 0.1175 73 320 0.228125 54 320 0.16875 299 400 0.7475 31 360 0.0861111 34 200 0.17 538 2000 0.269 582 1322 0.4402 90 1006 0.0895 157 694 0.2262 293 1008 0.2907 102 978 0.1043 1224 5008 0.244409 3904 9962 0.391889 3263 11554 0.282413 2781 8624 0.322472 465 6604 0.0704119 6180 66504 0.0929267 109 906 0.120309 1720 16504 0.104217 18422 120658 0.152679 386721 chr16:21690572:T>A OTOA NM_144672:c.179+40T>A INTRON4 Unknown significance rs528307113 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 0 9712 0 0 11504 0 1 8562 0.000116795 0 6594 0 0 66136 0 0 898 0 0 16482 0 1 119888 8.34112e-06 386722 chr16:21690578:A>G OTOA NM_144672:c.179+46A>G INTRON4 Unknown significance rs746424685 This variant is a VUS because it does not have enough information. 2 9676 0.000206697 0 11484 0 0 8534 0 0 6582 0 0 66012 0 0 894 0 0 16468 0 2 119650 1.67154e-05 386723 chr16:21690579:T>G OTOA NM_144672:c.179+47T>G INTRON4 Unknown significance rs772527280 This variant is a VUS because it does not have enough information. 0 9664 0 0 11468 0 0 8508 0 0 6580 0 1 65902 1.5174e-05 0 892 0 0 16452 0 1 119466 8.37058e-06 386724 chr16:21690602:T>C OTOA NM_144672:c.179+70T>C INTRON4 Unknown significance rs546772662 This variant is a VUS because it does not have enough information. 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361 386725 chr16:21690649:T>C OTOA NM_144672:c.179+117T>C INTRON4 Unknown significance rs568210413 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 386726 chr16:21690678:C>T OTOA NM_144672:c.179+146C>T INTRON4 Unknown significance rs781595937 This variant is a VUS because it does not have enough information. 386727 chr16:21690688:C>A OTOA NM_144672:c.179+156C>A INTRON4 Unknown significance rs535192299 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 386728 chr16:21690689:G>A OTOA NM_144672:c.179+157G>A INTRON4 Unknown significance rs746166266 This variant is a VUS because it does not have enough information. 386729 chr16:21690725:->T OTOA NM_144672:c.179+193_179+194insT INTRON4 Unknown significance rs551238916 This variant is a VUS because it does not have enough information. 3 1322 0.0023 0 1006 0 0 694 0 0 1008 0 0 978 0 3 5008 0.000599042 386730 chr16:21690746:G>A OTOA NM_144672:c.179+214G>A INTRON4 Unknown significance rs550586914 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 386731 chr16:21690753:G>A OTOA NM_144672:c.179+221G>A INTRON4 Unknown significance rs568737967 This variant is a VUS because it does not have enough information. 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361 386732 chr16:21690754:C>T OTOA NM_144672:c.179+222C>T INTRON4 Unknown significance rs539391946 This variant is a VUS because it does not have enough information. 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386733 chr16:21690785:C>T OTOA NM_144672:c.179+253C>T INTRON4 Benign rs12445825 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 582 1322 0.4402 90 1006 0.0895 157 694 0.2262 292 1008 0.2897 102 978 0.1043 1223 5008 0.244209 386734 chr16:21690786:T>C OTOA NM_144672:c.179+254T>C INTRON4 Unknown significance rs749831109 This variant is a VUS because it does not have enough information. 386735 chr16:21690818:G>A OTOA NM_144672:c.179+286G>A INTRON4 Unknown significance rs577081113 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386736 chr16:21690846:C>T OTOA NM_144672:c.179+314C>T INTRON4 Unknown significance rs545958408 This variant is a VUS because it does not have enough information. 386737 chr16:21690892:A>G OTOA NM_144672:c.179+360A>G INTRON4 Unknown significance rs190147269 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386738 chr16:21690917:G>A OTOA NM_144672:c.179+385G>A INTRON4 Unknown significance rs546404275 This variant is a VUS because it does not have enough information. 386739 chr16:21690917:G>T OTOA NM_144672:c.179+385G>T INTRON4 Unknown significance rs546404275 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386740 chr16:21690930:T>G OTOA NM_144672:c.179+398T>G INTRON4 Unknown significance rs564243363 This variant is a VUS because it does not have enough information. 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386741 chr16:21690972:G>A OTOA NM_144672:c.179+440G>A INTRON4 Unknown significance rs541940587 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386742 chr16:21690991:G>A OTOA NM_144672:c.179+459G>A INTRON4 Unknown significance rs528319303 This variant is a VUS because it does not have enough information. 386743 chr16:21691001:C>G OTOA NM_144672:c.179+469C>G INTRON4 Unknown significance rs148701084 This variant is a VUS because it does not have enough information. 386744 chr16:21691001:C>T OTOA NM_144672:c.179+469C>T INTRON4 Benign rs148701084 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 2 1322 0.0015 10 1006 0.0099 9 694 0.013 0 1008 0 0 978 0 21 5008 0.00419329 386745 chr16:21691016:G>A OTOA NM_144672:c.179+484G>A INTRON4 Unknown significance rs199526273 This variant is a VUS because it does not have enough information. 386746 chr16:21691021:C>T OTOA NM_144672:c.179+489C>T INTRON4 Unknown significance rs575568112 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386747 chr16:21691042:T>C OTOA NM_144672:c.179+510T>C INTRON4 Benign rs28449428 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 154 1322 0.1165 0 1006 0 5 694 0.0072 0 1008 0 1 978 0.001 160 5008 0.0319489 386748 chr16:21691077:C>T OTOA NM_144672:c.179+545C>T INTRON4 Benign rs28711934 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 582 1322 0.4402 98 1006 0.0974 156 694 0.2248 389 1008 0.3859 109 978 0.1115 1334 5008 0.266374 386749 chr16:21691078:G>T OTOA NM_144672:c.179+546G>T INTRON4 Unknown significance rs528394782 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 2 5008 0.000399361 386750 chr16:21691081:T>C OTOA NM_144672:c.179+549T>C INTRON4 Unknown significance rs546858568 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386751 chr16:21691127:C>A OTOA NM_144672:c.179+595C>A INTRON4 Unknown significance rs561719603 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 386752 chr16:21691148:A>T OTOA NM_144672:c.179+616A>T INTRON4 Benign rs117866053 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 1 1322 0.0008 11 1006 0.0109 2 694 0.0029 0 1008 0 9 978 0.0092 23 5008 0.00459265 386753 chr16:21691151:A>G OTOA NM_144672:c.179+619A>G INTRON4 Unknown significance rs201764275 This variant is a VUS because it does not have enough information. 386754 chr16:21691208:C>A OTOA NM_144672:c.179+676C>A INTRON4 Unknown significance rs371402861 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 386755 chr16:21691231:T>C OTOA NM_144672:c.179+699T>C INTRON4 Unknown significance rs568899522 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386756 chr16:21691290:G>A OTOA NM_144672:c.179+758G>A INTRON4 Unknown significance rs766908866 This variant is a VUS because it does not have enough information. 386757 chr16:21691293:C>G OTOA NM_144672:c.179+761C>G INTRON4 Unknown significance rs532799486 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 386758 chr16:21691295:A>G OTOA NM_144672:c.179+763A>G INTRON4 Unknown significance rs550914740 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386759 chr16:21691309:C>T OTOA NM_144672:c.179+777C>T INTRON4 Unknown significance rs570854613 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 386760 chr16:21691337:G>C OTOA NM_144672:c.179+805G>C INTRON4 Unknown significance rs534975950 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386761 chr16:21691352:C>T OTOA NM_144672:c.179+820C>T INTRON4 Unknown significance rs372679215 This variant is a VUS because it does not have enough information. 386762 chr16:21691353:G>A OTOA NM_144672:c.179+821G>A INTRON4 Benign rs116615159 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 30 1322 0.0227 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 32 5008 0.00638978 386763 chr16:21691387:G>C OTOA NM_144672:c.179+855G>C INTRON4 Unknown significance rs565474685 This variant is a VUS because it does not have enough information. 386764 chr16:21691429:C>- OTOA NM_144672:c.179+897delC INTRON4 Benign rs551074628 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 0 1322 0 0 1006 0 5 694 0.0072 0 1008 0 0 978 0 5 5008 0.000998403 386765 chr16:21691461:T>G OTOA NM_144672:c.179+929T>G INTRON4 Benign rs142271874 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 11 1322 0.0083 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 12 5008 0.00239617 386766 chr16:21691471:C>A OTOA NM_144672:c.179+939C>A INTRON4 Benign rs7194128 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 582 1322 0.4402 90 1006 0.0895 155 694 0.2233 292 1008 0.2897 102 978 0.1043 1221 5008 0.24381 386767 chr16:21691504:T>C OTOA NM_144672:c.179+972T>C INTRON4 Unknown significance rs138864625 This variant is a VUS because it does not have enough information. 386768 chr16:21691505:T>C OTOA NM_144672:c.179+973T>C INTRON4 Unknown significance rs148311668 This variant is a VUS because it does not have enough information. 386769 chr16:21691506:->ATCC OTOA NM_144672:c.179+974_179+975insATCC INTRON4 Unknown significance rs143747290 This variant is a VUS because it does not have enough information. 386770 chr16:21691506:->ATCCATCC OTOA NM_144672:c.179+974_179+975insATCCATCC INTRON4 Unknown significance rs143747290 This variant is a VUS because it does not have enough information. 386771 chr16:21691506:->ATCCATCCATCC OTOA NM_144672:c.179+974_179+975insATCCATCCATCC INTRON4 Unknown significance rs143747290 This variant is a VUS because it does not have enough information. 386772 chr16:21691506:->ATCCATCCATCCATCC OTOA NM_144672:c.179+974_179+975insATCCATCCATCCATCC INTRON4 Unknown significance rs143747290 This variant is a VUS because it does not have enough information. 386773 chr16:21691506:->ATCCATCCATCCATCCATCC OTOA NM_144672:c.179+974_179+975insATCCATCCATCCATCCATCC INTRON4 Unknown significance rs143747290 This variant is a VUS because it does not have enough information. 386774 chr16:21691510:A>G OTOA NM_144672:c.179+978A>G INTRON4 Unknown significance rs181702985 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 386775 chr16:21691530:A>C OTOA NM_144672:c.179+998A>C INTRON4 Unknown significance rs575650557 This variant is a VUS because it does not have enough information. 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386776 chr16:21691555:C>A OTOA NM_144672:c.179+1023C>A INTRON4 Unknown significance rs546269947 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 386777 chr16:21691561:G>A OTOA NM_144672:c.179+1029G>A INTRON4 Unknown significance rs558176481 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 1 978 0.001 2 5008 0.000399361 386778 chr16:21691570:C>T OTOA NM_144672:c.179+1038C>T INTRON4 Unknown significance rs573210344 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 386779 chr16:21691577:A>G OTOA NM_144672:c.179+1045A>G INTRON4 Benign rs74643689 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 4 1322 0.003 195 1006 0.1938 64 694 0.0922 0 1008 0 19 978 0.0194 282 5008 0.0563099 386780 chr16:21691587:G>C OTOA NM_144672:c.179+1055G>C INTRON4 Benign rs58398187 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 604 1322 0.4569 98 1006 0.0974 157 694 0.2262 390 1008 0.3869 110 978 0.1125 1359 5008 0.271366 386781 chr16:21691589:C>T OTOA NM_144672:c.179+1057C>T INTRON4 Unknown significance rs529093451 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 386782 chr16:21691631:G>A OTOA NM_144672:c.179+1099G>A INTRON4 Unknown significance rs368201997 This variant is a VUS because it does not have enough information. 386783 chr16:21691665:C>T OTOA NM_144672:c.179+1133C>T INTRON4 Unknown significance rs544354001 This variant is a VUS because it does not have enough information. 5 1322 0.0038 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 6 5008 0.00119808 386784 chr16:21691676:T>C OTOA NM_144672:c.179+1144T>C INTRON4 Unknown significance rs562445126 This variant is a VUS because it does not have enough information. 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386785 chr16:21691701:G>C OTOA NM_144672:c.179+1169G>C INTRON4 Unknown significance rs780664179 This variant is a VUS because it does not have enough information. 386786 chr16:21691705:C>T OTOA NM_144672:c.179+1173C>T INTRON4 Unknown significance rs532859161 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 2 1008 0.002 0 978 0 2 5008 0.000399361 386787 chr16:21691738:G>A OTOA NM_144672:c.179+1206G>A INTRON4 Unknown significance rs551000752 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 386788 chr16:21691757:C>T OTOA NM_144672:c.179+1225C>T INTRON4 Unknown significance rs566114666 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 386789 chr16:21691759:C>T OTOA NM_144672:c.179+1227C>T INTRON4 Unknown significance rs528785034 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 4 978 0.0041 5 5008 0.000998403 386790 chr16:21691760:G>A OTOA NM_144672:c.179+1228G>A INTRON4 Unknown significance rs756380137 This variant is a VUS because it does not have enough information. 386791 chr16:21691764:G>C OTOA NM_144672:c.179+1232G>C INTRON4 Unknown significance rs551475589 This variant is a VUS because it does not have enough information. 386792 chr16:21691771:G>A OTOA NM_144672:c.179+1239G>A INTRON4 Unknown significance rs186049233 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386793 chr16:21691798:G>A OTOA NM_144672:c.180-1261G>A INTRON4 Benign rs192510438 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 19 1322 0.0144 0 1006 0 0 694 0 0 1008 0 0 978 0 19 5008 0.00379393 386794 chr16:21691813:C>T OTOA NM_144672:c.180-1246C>T INTRON4 Unknown significance rs753941609 This variant is a VUS because it does not have enough information. 386795 chr16:21691833:G>A OTOA NM_144672:c.180-1226G>A INTRON4 Unknown significance rs757181064 This variant is a VUS because it does not have enough information. 386796 chr16:21691836:->AAAC OTOA NM_144672:c.180-1223_180-1222insAAAC INTRON4 Unknown significance rs566695464 This variant is a VUS because it does not have enough information. 386797 chr16:21691836:AAAC>- OTOA NM_144672:c.180-1223_180-1220delAAAC INTRON4 Unknown significance rs146969285 This variant is a VUS because it does not have enough information. 386798 chr16:21691836:AAACAAAC>- OTOA NM_144672:c.180-1223_180-1216delAAACAAAC INTRON4 Unknown significance rs777337006 This variant is a VUS because it does not have enough information. 386799 chr16:21691867:C>G OTOA NM_144672:c.180-1192C>G INTRON4 Unknown significance rs151255712 This variant is a VUS because it does not have enough information. 386800 chr16:21691945:A>G OTOA NM_144672:c.180-1114A>G INTRON4 Benign rs28657714 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 605 1322 0.4576 90 1006 0.0895 156 694 0.2248 291 1008 0.2887 103 978 0.1053 1245 5008 0.248602 386801 chr16:21691953:C>T OTOA NM_144672:c.180-1106C>T INTRON4 Unknown significance rs749810961 This variant is a VUS because it does not have enough information. 386802 chr16:21691954:G>A OTOA NM_144672:c.180-1105G>A INTRON4 Benign rs145464941 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 1 1322 0.0008 6 1006 0.006 1 694 0.0014 0 1008 0 0 978 0 8 5008 0.00159744 386803 chr16:21691975:C>T OTOA NM_144672:c.180-1084C>T INTRON4 Unknown significance rs569295724 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 0 978 0 0 5008 0 386804 chr16:21691982:C>T OTOA NM_144672:c.180-1077C>T INTRON4 Unknown significance rs774552776 This variant is a VUS because it does not have enough information. 386805 chr16:21691983:G>A OTOA NM_144672:c.180-1076G>A INTRON4 Unknown significance rs367859705 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 4 1008 0.004 0 978 0 4 5008 0.000798722 386806 chr16:21692031:G>T OTOA NM_144672:c.180-1028G>T INTRON4 Unknown significance rs558213164 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 386807 chr16:21692032:G>T OTOA NM_144672:c.180-1027G>T INTRON4 Unknown significance rs573297799 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 386808 chr16:21692047:G>A OTOA NM_144672:c.180-1012G>A INTRON4 Unknown significance rs540598583 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681 386809 chr16:21692089:G>A OTOA NM_144672:c.180-970G>A INTRON4 Unknown significance rs555384304 This variant is a VUS because it does not have enough information. 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386810 chr16:21692091:T>C OTOA NM_144672:c.180-968T>C INTRON4 Unknown significance rs772226582 This variant is a VUS because it does not have enough information. 386811 chr16:21692098:T>C OTOA NM_144672:c.180-961T>C INTRON4 Unknown significance rs573833328 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386812 chr16:21692105:C>T OTOA NM_144672:c.180-954C>T INTRON4 Unknown significance rs544124151 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681 386813 chr16:21692106:G>A OTOA NM_144672:c.180-953G>A INTRON4 Benign rs147712987 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 0 1322 0 8 1006 0.008 1 694 0.0014 52 1008 0.0516 3 978 0.0031 64 5008 0.0127796 386814 chr16:21692116:G>A OTOA NM_144672:c.180-943G>A INTRON4 Unknown significance rs758297983 This variant is a VUS because it does not have enough information. 386815 chr16:21692130:C>A OTOA NM_144672:c.180-929C>A INTRON4 Unknown significance rs779925018 This variant is a VUS because it does not have enough information. 386816 chr16:21692131:A>G OTOA NM_144672:c.180-928A>G INTRON4 Unknown significance rs746670957 This variant is a VUS because it does not have enough information. 386817 chr16:21692168:T>A OTOA NM_144672:c.180-891T>A INTRON4 Unknown significance rs532896008 This variant is a VUS because it does not have enough information. 386818 chr16:21692168:T>C OTOA NM_144672:c.180-891T>C INTRON4 Unknown significance rs532896008 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 386819 chr16:21692174:C>A OTOA NM_144672:c.180-885C>A INTRON4 Unknown significance rs75996092 This variant is a VUS because it does not have enough information. 386820 chr16:21692175:A>C OTOA NM_144672:c.180-884A>C INTRON4 Unknown significance rs75257066 This variant is a VUS because it does not have enough information. 386821 chr16:21692191:A>G OTOA NM_144672:c.180-868A>G INTRON4 Benign rs532667148 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 0 1322 0 0 1006 0 0 694 0 0 1008 0 8 978 0.0082 8 5008 0.00159744 386822 chr16:21692208:A>G OTOA NM_144672:c.180-851A>G INTRON4 Unknown significance rs780629413 This variant is a VUS because it does not have enough information. 386823 chr16:21692241:C>T OTOA NM_144672:c.180-818C>T INTRON4 Unknown significance rs559786532 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681 386824 chr16:21692247:T>A OTOA NM_144672:c.180-812T>A INTRON4 Unknown significance rs567937888 This variant is a VUS because it does not have enough information. 386825 chr16:21692256:T>G OTOA NM_144672:c.180-803T>G INTRON4 Unknown significance rs527302624 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 1 978 0.001 2 5008 0.000399361 386826 chr16:21692311:G>A OTOA NM_144672:c.180-748G>A INTRON4 Benign rs115473521 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 58 1322 0.0439 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 59 5008 0.0117812 386827 chr16:21692315:C>A OTOA NM_144672:c.180-744C>A INTRON4 Unknown significance rs375060757 This variant is a VUS because it does not have enough information. 386828 chr16:21692338:C>T OTOA NM_144672:c.180-721C>T INTRON4 Unknown significance rs562294810 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 386829 chr16:21692393:C>T OTOA NM_144672:c.180-666C>T INTRON4 Unknown significance rs529584595 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386830 chr16:21692399:A>C OTOA NM_144672:c.180-660A>C INTRON4 Unknown significance rs769470747 This variant is a VUS because it does not have enough information. 386831 chr16:21692401:TA>- OTOA NM_144672:c.180-658_180-657delTA INTRON4 Unknown significance rs538200986 This variant is a VUS because it does not have enough information. 1 1322 0.0008 2 1006 0.002 0 694 0 0 1008 0 0 978 0 3 5008 0.000599042 386832 chr16:21692415:C>A OTOA NM_144672:c.180-644C>A INTRON4 Unknown significance rs775394412 This variant is a VUS because it does not have enough information. 386833 chr16:21692417:C>T OTOA NM_144672:c.180-642C>T INTRON4 Unknown significance rs762852456 This variant is a VUS because it does not have enough information. 386834 chr16:21692440:T>G OTOA NM_144672:c.180-619T>G INTRON4 Unknown significance rs550930431 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 386835 chr16:21692477:T>C OTOA NM_144672:c.180-582T>C INTRON4 Unknown significance rs75422939 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 2 1008 0.002 0 978 0 2 5008 0.000399361 386836 chr16:21692504:G>A OTOA NM_144672:c.180-555G>A INTRON4 Unknown significance rs796384535 This variant is a VUS because it does not have enough information. 386837 chr16:21692591:A>G OTOA NM_144672:c.180-468A>G INTRON4 Unknown significance rs142543205 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386838 chr16:21692654:G>A OTOA NM_144672:c.180-405G>A INTRON4 Unknown significance rs556891468 This variant is a VUS because it does not have enough information. 386839 chr16:21692664:T>C OTOA NM_144672:c.180-395T>C INTRON4 Benign rs215893 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 1311 1322 0.9917 882 1006 0.8767 533 694 0.768 676 1008 0.6706 702 978 0.7178 4104 5008 0.819489 386840 chr16:21692701:C>A OTOA NM_144672:c.180-358C>A INTRON4 Unknown significance rs566930128 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 4 978 0.0041 4 5008 0.000798722 386841 chr16:21692714:C>G OTOA NM_144672:c.180-345C>G INTRON4 Unknown significance rs539514843 This variant is a VUS because it does not have enough information. 386842 chr16:21692723:G>A OTOA NM_144672:c.180-336G>A INTRON4 Unknown significance rs534186760 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 386843 chr16:21692759:C>G OTOA NM_144672:c.180-300C>G INTRON4 Unknown significance rs558759408 This variant is a VUS because it does not have enough information. 386844 chr16:21692816:A>T OTOA NM_144672:c.180-243A>T INTRON4 Unknown significance rs557891893 This variant is a VUS because it does not have enough information. 386845 chr16:21692852:C>T OTOA NM_144672:c.180-207C>T INTRON4 Unknown significance rs372707474 This variant is a VUS because it does not have enough information. 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386846 chr16:21692853:G>A OTOA NM_144672:c.180-206G>A INTRON4 Unknown significance rs751524829 This variant is a VUS because it does not have enough information. 386847 chr16:21692865:C>T OTOA NM_144672:c.180-194C>T INTRON4 Unknown significance rs573892147 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 386848 chr16:21692900:A>G OTOA NM_144672:c.180-159A>G INTRON4 Unknown significance rs538126577 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681 386849 chr16:21692907:->AAAGA OTOA NM_144672:c.180-152_180-151insAAAGA INTRON4 Unknown significance rs558851068 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 2 978 0.002 3 5008 0.000599042 386850 chr16:21692954:C>A OTOA NM_144672:c.180-105C>A INTRON4 Unknown significance rs556111128 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 386851 chr16:21692993:C>G OTOA NM_144672:c.180-66C>G INTRON4 Unknown significance rs117245113 This variant is a VUS because it does not have enough information. 0 1322 0 2 1006 0.002 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361 386852 chr16:21693012:A>T OTOA NM_144672:c.180-47A>T INTRON4 Unknown significance rs544767087 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 0 10132 0 0 11124 0 0 8444 0 0 6402 0 0 65336 0 0 876 0 2 15812 0.000126486 2 118126 1.69311e-05 386853 chr16:21693016:G>C OTOA NM_144672:c.180-43G>C INTRON4 Unknown significance rs760043999 This variant is a VUS because it does not have enough information. 0 10150 0 0 11142 0 2 8446 0.000236798 0 6398 0 0 65366 0 0 882 0 0 15850 0 2 118234 1.69156e-05 386854 chr16:21693033:C>A OTOA NM_144672:c.180-26C>A INTRON4 Unknown significance rs200586771 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 386855 chr16:21693044:T>C OTOA NM_144672:c.180-15T>C INTRON4 Unknown significance rs750035094 This variant is a VUS because it does not have enough information. 0 10334 0 0 11412 0 1 8634 0.000115821 0 6522 0 1 66374 1.50661e-05 0 896 0 0 16220 0 2 120392 1.66124e-05 386856 chr16:21693047:C>T OTOA NM_144672:c.180-12C>T INTRON4 Unknown significance rs776210902 This variant is a VUS because it does not have enough information. 0 10350 0 3 11448 0.000262055 0 8638 0 0 6534 0 4 66460 6.01866e-05 0 898 0 0 16282 0 7 120610 5.80383e-05 386857 chr16:21693053:C>T OTOA NM_144672:c.180-6C>T INTRON4 Unknown significance rs761492464 This variant is a VUS because it does not have enough information. 0 10376 0 0 11486 0 0 8652 0 0 6552 0 0 66560 0 0 898 0 1 16366 6.11023e-05 1 120890 8.27198e-06 386858 chr16:21693060:T>G OTOA NM_144672:p.Ser61Ala NM_144672:c.181T>G EXON5 Unknown significance rs369772866 This variant is a VUS because it does not have enough information. 1.061 C 0.13;0.138 T 0.016 B 0.006618 N 0.669736 D 0.695 C 1 8600 0.000116279 0 4398 0 1 12998 7.69349e-05 386859 chr16:21693066:G>A OTOA NM_144672:p.Val63Met NM_144672:c.187G>A EXON5 Likely benign rs755864812 Pathogenicity is based on prediction data only. 1 out of 6 predictions were pathogenic. -1.55 N 0.208;0.214 T 0.018 B 0.174906 N 1 N 0.582 C 0 10396 0 0 11542 0 0 8654 0 0 6592 0 3 66670 4.49978e-05 0 908 0 2 16454 0.000121551 5 121216 4.12487e-05 386860 chr16:21693066:G>T OTOA NM_144672:p.Val63Leu NM_144672:c.187G>T EXON5 Likely benign rs755864812 Pathogenicity is based on prediction data only. 1 out of 6 predictions were pathogenic. -1.55 N 0.265;0.308 T 0.019 B 0.174906 N 1 N 0.582 C 0 10396 0 0 11542 0 0 8654 0 0 6592 0 2 66670 2.99985e-05 0 908 0 0 16454 0 2 121216 1.64995e-05 386861 chr16:21693073:C>A OTOA NM_144672:p.Thr65Lys NM_144672:c.194C>A EXON5 Unknown significance rs140152105 This variant is a VUS because it does not have enough information. 0.068 N 0.0 D 1.0 D 1e-06 D 0.995987 D 4.98 C 3 10400 0.000288462 0 11554 0 0 8654 0 0 6596 0 0 66698 0 0 908 0 0 16466 0 3 121276 2.4737e-05 386862 chr16:21693073:C>T OTOA NM_144672:p.Thr65Met NM_144672:c.194C>T EXON5 Unknown significance rs140152105 This variant is a VUS because it does not have enough information. 0.068 N 0.0 D 1.0 D 1e-06 D 0.992776 D 4.98 C 1 8600 0.000116279 1 4398 0.000227376 2 12998 0.00015387 0 1322 0 0 1006 0 0 694 0 0 1008 0 2 978 0.002 2 5008 0.000399361 0 10400 0 1 11554 8.65501e-05 3 8654 0.000346661 0 6596 0 10 66698 0.00014993 0 908 0 9 16466 0.000546581 23 121276 0.00018965 386863 chr16:21693093:G>A OTOA NM_144672:p.Val72Ile NM_144672:c.214G>A EXON5 Likely benign rs373454098 Pathogenicity is based on prediction data only. 1 out of 6 predictions were pathogenic. -0.67 N 0.235;0.246 T 0.011 B 0.033588 N 0.956944 N 0.166 C 1 8600 0.000116279 0 4398 0 1 12998 7.69349e-05 0 10406 0 0 11564 0 0 8654 0 0 6606 0 1 66720 1.4988e-05 0 908 0 0 16490 0 1 121348 8.24076e-06 386864 chr16:21693105:C>G OTOA NM_144672:p.Leu76Val NM_144672:c.226C>G EXON5 Unknown significance rs756208278 This variant is a VUS because it does not have enough information. 0.935 N 0.023;0.026 D 0.925 P 0.034187 N 0.833667 N 3.81 C 0 10406 0 0 11560 0 0 8654 0 0 6606 0 2 66720 2.9976e-05 0 908 0 0 16500 0 2 121354 1.64807e-05 386865 chr16:21693106:T>C OTOA NM_144672:p.Leu76Pro NM_144672:c.227T>C EXON5 Unknown significance rs777905759 This variant is a VUS because it does not have enough information. 1.061 C 0.004 D 0.996 D 0.034187 N 0.999996 D 4.81 C 0 10406 0 0 11560 0 0 8654 0 0 6606 0 1 66718 1.49885e-05 0 908 0 0 16500 0 1 121352 8.24049e-06 386866 chr16:21693114:C>T OTOA NM_144672:p.Arg79Trp NM_144672:c.235C>T EXON5 Likely benign rs754047945 Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic. 0.02 N 0.048;0.051 D;T 0.116 B 0.397645 N 1 N 1.41 C 0 10406 0 0 11560 0 0 8654 0 0 6604 0 0 66712 0 0 908 0 1 16500 6.06061e-05 1 121344 8.24103e-06 386867 chr16:21693115:G>A OTOA NM_144672:p.Arg79Gln NM_144672:c.236G>A EXON5 Likely benign rs147088274 Pathogenicity is based on prediction data only. 0 out of 6 predictions were pathogenic. -0.668 N 0.442;0.459 T 0.093 B 0.397645 N 1 N -0.664 N 1 8600 0.000116279 15 4398 0.00341064 16 12998 0.00123096 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 38 10404 0.00365244 1 11558 8.65202e-05 0 8654 0 0 6606 0 1 66712 1.49898e-05 1 908 0.00110132 0 16500 0 41 121342 0.000337888 386868 chr16:21693116:G>C OTOA NM_144672:p.Arg79Arg NM_144672:c.237G>C EXON5 Unknown significance rs779280512 This variant is a VUS because it does not have enough information. 1 10406 9.60984e-05 0 11558 0 0 8654 0 0 6604 0 0 66714 0 0 908 0 0 16500 0 1 121344 8.24103e-06 386869 chr16:21693123:G>A OTOA NM_144672:p.Ala82Thr NM_144672:c.244G>A EXON5 Likely benign rs200249536 Pathogenicity is based on prediction data only. 0 out of 6 predictions were pathogenic. -1.096 N 0.345;0.381 T 0.003 B 0.131565 N 0.999995 N -4.64 N 0 10404 0 0 11556 0 0 8654 0 0 6604 0 4 66700 5.997e-05 0 908 0 0 16494 0 4 121320 3.29707e-05 386870 chr16:21693124:C>A OTOA NM_144672:p.Ala82Asp NM_144672:c.245C>A EXON5 Likely benign rs772578617 Pathogenicity is based on prediction data only. 1 out of 6 predictions were pathogenic. 0.935 N 0.356;0.396 T 0.003 B 0.131565 N 0.578805 N 4.98 C 0 10404 0 0 11556 0 0 8654 0 0 6600 0 1 66698 1.4993e-05 0 908 0 0 16490 0 1 121310 8.24334e-06 386871 chr16:21693125:C>G OTOA NM_144672:p.Ala82Ala NM_144672:c.246C>G EXON5 Unknown significance rs780595280 This variant is a VUS because it does not have enough information. 0 10404 0 0 11556 0 1 8654 0.000115554 0 6600 0 0 66698 0 0 908 0 0 16490 0 1 121310 8.24334e-06 386872 chr16:21693129:A>C OTOA NM_144672:p.Thr84Pro NM_144672:c.250A>C EXON5 Unknown significance This variant is a VUS because it does not have enough information. 1.199 C 0.004;0.005 D 1.0 D 0.000181 D 0.992364 D 5.93 C 0 400 0 0 320 0 0 320 0 0 400 0 0 360 0 0 200 0 0 2000 0 386873 chr16:21693134:C>T OTOA NM_144672:p.Ile85Ile NM_144672:c.255C>T EXON5 Unknown significance rs371085958 This variant is a VUS because it does not have enough information. 0 8600 0 1 4398 0.000227376 1 12998 7.69349e-05 4 10402 0.000384541 0 11542 0 0 8654 0 0 6592 0 0 66682 0 0 908 0 0 16486 0 4 121266 3.29853e-05 386874 chr16:21693140:C>A OTOA NM_144672:p.Ser87Arg NM_144672:c.261C>A EXON5 Unknown significance rs376927793 This variant is a VUS because it does not have enough information. 0.935 N 0.004 D 0.999 D 0 D 0.99233 D 4.8 C 1 8600 0.000116279 0 4398 0 1 12998 7.69349e-05 0 10398 0 0 11524 0 0 8654 0 1 6588 0.000151791 8 66672 0.00011999 0 908 0 0 16472 0 9 121216 7.42476e-05 386875 chr16:21693141:C>T OTOA NM_144672:p.Leu88Leu NM_144672:c.262C>T EXON5 Unknown significance rs776180718 This variant is a VUS because it does not have enough information. 1 10396 9.61908e-05 0 11524 0 0 8654 0 0 6586 0 0 66666 0 0 908 0 0 16470 0 1 121204 8.25055e-06 386876 chr16:21693158:A>G OTOA NM_144672:c.267+12A>G INTRON5 Unknown significance rs747774114 This variant is a VUS because it does not have enough information. 0 10364 0 0 11458 0 1 8652 0.00011558 0 6564 0 0 66558 0 0 906 0 0 16412 0 1 120914 8.27034e-06 386877 chr16:21693163:C>T OTOA NM_144672:c.267+17C>T INTRON5 Unknown significance rs769534844 This variant is a VUS because it does not have enough information. 0 10358 0 0 11438 0 0 8642 0 0 6562 0 0 66510 0 0 904 0 2 16398 0.000121966 2 120812 1.65546e-05 386878 chr16:21693164:A>T OTOA NM_144672:c.267+18A>T INTRON5 Unknown significance rs773149989 This variant is a VUS because it does not have enough information. 0 10356 0 0 11434 0 0 8646 0 0 6562 0 1 66506 1.50362e-05 0 904 0 0 16400 0 1 120808 8.2776e-06 386879 chr16:21693165:T>A OTOA NM_144672:c.267+19T>A INTRON5 Unknown significance rs762780701 This variant is a VUS because it does not have enough information. 0 10354 0 0 11426 0 0 8644 0 0 6558 0 1 66490 1.50399e-05 0 904 0 0 16398 0 1 120774 8.27993e-06 386880 chr16:21693173:->T OTOA NM_144672:c.267+27_267+28insT INTRON5 Unknown significance rs34356730 This variant is a VUS because it does not have enough information. 386881 chr16:21693191:G>A OTOA NM_144672:c.267+45G>A INTRON5 Unknown significance rs766266628 This variant is a VUS because it does not have enough information. 0 10300 0 0 11310 0 1 8582 0.000116523 0 6500 0 0 66174 0 0 900 0 0 16274 0 1 120040 8.33056e-06 386882 chr16:21693197:G>A OTOA NM_144672:c.267+51G>A INTRON5 Unknown significance rs774223142 This variant is a VUS because it does not have enough information. 0 10236 0 0 11228 0 1 8526 0.000117288 0 6478 0 0 65884 0 0 896 0 0 16188 0 1 119436 8.37268e-06 386883 chr16:21693217:A>G OTOA NM_144672:c.267+71A>G INTRON5 Unknown significance rs560924868 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 386884 chr16:21693264:G>A OTOA NM_144672:c.267+118G>A INTRON5 Unknown significance rs12447559 This variant is a VUS because it does not have enough information. 386885 chr16:21693271:G>C OTOA NM_144672:c.267+125G>C INTRON5 Unknown significance rs780253312 This variant is a VUS because it does not have enough information. 386886 chr16:21693277:T>C OTOA NM_144672:c.267+131T>C INTRON5 Unknown significance rs529590101 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 0 978 0 0 5008 0 386887 chr16:21693298:A>G OTOA NM_144672:c.267+152A>G INTRON5 Unknown significance rs149013870 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386888 chr16:21693314:C>T OTOA NM_144672:c.267+168C>T INTRON5 Unknown significance rs563142507 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 386889 chr16:21693322:C>T OTOA NM_144672:c.267+176C>T INTRON5 Unknown significance rs754305836 This variant is a VUS because it does not have enough information. 386890 chr16:21693327:T>C OTOA NM_144672:c.267+181T>C INTRON5 Unknown significance rs570566627 This variant is a VUS because it does not have enough information. 386891 chr16:21693343:G>C OTOA NM_144672:c.267+197G>C INTRON5 Unknown significance rs533575162 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386892 chr16:21693388:C>A OTOA NM_144672:c.267+242C>A INTRON5 Unknown significance rs573035458 This variant is a VUS because it does not have enough information. 386893 chr16:21693417:A>G OTOA NM_144672:c.267+271A>G INTRON5 Unknown significance rs551958194 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386894 chr16:21693433:G>A OTOA NM_144672:c.267+287G>A INTRON5 Unknown significance rs567017627 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 386895 chr16:21693437:A>C OTOA NM_144672:c.267+291A>C INTRON5 Unknown significance rs755418871 This variant is a VUS because it does not have enough information. 386896 chr16:21693536:T>C OTOA NM_144672:c.267+390T>C INTRON5 Benign rs143017378 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 19 1322 0.0144 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 21 5008 0.00419329 386897 chr16:21693558:T>C OTOA NM_144672:c.267+412T>C INTRON5 Unknown significance rs540420834 This variant is a VUS because it does not have enough information. 0 1322 0 3 1006 0.003 2 694 0.0029 0 1008 0 0 978 0 5 5008 0.000998403 386898 chr16:21693565:G>A OTOA NM_144672:c.267+419G>A INTRON5 Unknown significance rs567628489 This variant is a VUS because it does not have enough information. 5 1322 0.0038 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 6 5008 0.00119808 386899 chr16:21693585:C>T OTOA NM_144672:c.267+439C>T INTRON5 Unknown significance rs537820457 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386900 chr16:21693589:C>T OTOA NM_144672:c.267+443C>T INTRON5 Unknown significance rs183906848 This variant is a VUS because it does not have enough information. 386901 chr16:21693592:G>A OTOA NM_144672:c.267+446G>A INTRON5 Benign rs115156928 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 17 1322 0.0129 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 18 5008 0.00359425 386902 chr16:21693623:G>A OTOA NM_144672:c.267+477G>A INTRON5 Unknown significance rs577471865 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 386903 chr16:21693632:C>T OTOA NM_144672:c.267+486C>T INTRON5 Unknown significance rs538094046 This variant is a VUS because it does not have enough information. 386904 chr16:21693647:C>A OTOA NM_144672:c.267+501C>A INTRON5 Unknown significance rs538447233 This variant is a VUS because it does not have enough information. 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386905 chr16:21693648:G>A OTOA NM_144672:c.267+502G>A INTRON5 Unknown significance rs553544171 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386906 chr16:21693653:T>C OTOA NM_144672:c.267+507T>C INTRON5 Unknown significance rs571846621 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 386907 chr16:21693680:A>G OTOA NM_144672:c.267+534A>G INTRON5 Unknown significance rs542687122 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386908 chr16:21693695:A>G OTOA NM_144672:c.267+549A>G INTRON5 Benign rs117610946 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 0 1322 0 0 1006 0 0 694 0 32 1008 0.0317 1 978 0.001 33 5008 0.00658946 386909 chr16:21693709:C>T OTOA NM_144672:c.267+563C>T INTRON5 Unknown significance rs188905872 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386910 chr16:21693717:G>A OTOA NM_144672:c.267+571G>A INTRON5 Unknown significance rs148197104 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386911 chr16:21693723:T>C OTOA NM_144672:c.267+577T>C INTRON5 Unknown significance rs190852481 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 386912 chr16:21693728:C>T OTOA NM_144672:c.267+582C>T INTRON5 Unknown significance rs533664203 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386913 chr16:21693762:G>A OTOA NM_144672:c.267+616G>A INTRON5 Unknown significance rs772031924 This variant is a VUS because it does not have enough information. 386914 chr16:21693821:A>G OTOA NM_144672:c.267+675A>G INTRON5 Unknown significance rs545658378 This variant is a VUS because it does not have enough information. 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386915 chr16:21693824:T>C OTOA NM_144672:c.267+678T>C INTRON5 Unknown significance rs371188477 This variant is a VUS because it does not have enough information. 386916 chr16:21693838:A>G OTOA NM_144672:c.267+692A>G INTRON5 Unknown significance rs560652283 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 386917 chr16:21693874:A>G OTOA NM_144672:c.267+728A>G INTR