390458 chr16:75661649:T>A KARS NM_005548:c.*144A>T THREE_PRIME_EXON Unknown significance rs533064131 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 390459 chr16:75661702:G>A KARS NM_005548:c.*91C>T THREE_PRIME_EXON Benign rs527236481 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 12 978 0.0123 12 5008 0.00239617 390460 chr16:75661734:C>T KARS NM_005548:c.*59G>A THREE_PRIME_EXON Benign rs11505 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 67 1322 0.0507 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 69 5008 0.013778 390462 chr16:75661754:C>G KARS NM_005548:c.*39G>C THREE_PRIME_EXON Unknown significance rs751510371 This variant is a VUS because it does not have enough information. 0 10334 0 0 11532 0 0 8644 0 0 6596 0 1 66536 1.50295e-05 0 906 0 0 16510 0 1 121058 8.2605e-06 390461 chr16:75661754:CAAAGACGC>- KARS NM_005548:c.*39_*49delGCGTCTTTG THREE_PRIME_EXON Unknown significance rs759971006 This variant is a VUS because it does not have enough information. 0 10332 0 1 11534 8.67002e-05 0 8644 0 0 6596 0 0 66534 0 0 906 0 0 16510 0 1 121056 8.26064e-06 390463 chr16:75661755:A>G KARS NM_005548:c.*38T>C THREE_PRIME_EXON Unknown significance rs1802511 This variant is a VUS because it does not have enough information. 390464 chr16:75661757:A>C KARS NM_005548:c.*36T>G THREE_PRIME_EXON Unknown significance rs757209685 This variant is a VUS because it does not have enough information. 0 10340 0 0 11540 0 0 8646 0 0 6598 0 2 66572 3.00427e-05 0 906 0 0 16510 0 2 121112 1.65136e-05 390465 chr16:75661760:C>G KARS NM_005548:c.*33G>C THREE_PRIME_EXON Unknown significance rs111679674 This variant is a VUS because it does not have enough information. 390466 chr16:75661760:C>T KARS NM_005548:c.*33G>A THREE_PRIME_EXON Benign rs111679674 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 87 8600 0.0101163 6 4396 0.00136488 93 12996 0.00715605 1 1322 0.0008 21 1006 0.0209 3 694 0.0043 1 1008 0.001 1 978 0.001 27 5008 0.00539137 15 10346 0.00144984 37 11536 0.00320735 0 8648 0 231 6600 0.035 738 66584 0.0110837 17 906 0.0187638 34 16510 0.00205936 1072 121130 0.00885 390467 chr16:75661761:G>A KARS NM_005548:c.*32C>T THREE_PRIME_EXON Unknown significance rs750234986 This variant is a VUS because it does not have enough information. 0 10346 0 0 11542 0 0 8650 0 0 6600 0 1 66600 1.5015e-05 0 906 0 0 16510 0 1 121154 8.25396e-06 390468 chr16:75661763:CT>- KARS NM_005548:c.*30_*33delAG THREE_PRIME_EXON Unknown significance rs767901895 This variant is a VUS because it does not have enough information. 0 10346 0 0 11542 0 0 8650 0 0 6600 0 1 66598 1.50155e-05 0 906 0 0 16510 0 1 121152 8.25409e-06 390469 chr16:75661767:G>A KARS NM_005548:c.*26C>T THREE_PRIME_EXON Unknown significance rs78654839 This variant is a VUS because it does not have enough information. 0 10356 0 0 11544 0 0 8654 0 0 6602 0 0 66628 0 0 906 0 4 16510 0.000242277 4 121200 3.30033e-05 390470 chr16:75661767:G>C KARS NM_005548:c.*26C>G THREE_PRIME_EXON Benign rs78654839 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 80 8600 0.00930233 6 4396 0.00136488 86 12996 0.00661742 0 1322 0 21 1006 0.0209 3 694 0.0043 0 1008 0 0 978 0 24 5008 0.00479233 15 10356 0.00144844 37 11544 0.00320513 0 8654 0 231 6602 0.0349894 637 66628 0.00956055 14 906 0.0154525 30 16510 0.00181708 964 121200 0.0079538 390471 chr16:75661769:->TGTA KARS NM_005548:c.*24_*25insTACA THREE_PRIME_EXON Unknown significance rs753082472 This variant is a VUS because it does not have enough information. 0 10356 0 0 11548 0 0 8654 0 0 6602 0 1 66640 1.5006e-05 0 906 0 0 16510 0 1 121216 8.24974e-06 390472 chr16:75661769:T>C KARS NM_005548:c.*24A>G THREE_PRIME_EXON Unknown significance rs748316661 This variant is a VUS because it does not have enough information. 0 10360 0 0 11552 0 0 8654 0 0 6602 0 0 66642 0 0 906 0 1 16510 6.05694e-05 1 121226 8.24906e-06 390473 chr16:75661771:T>C KARS NM_005548:c.*22A>G THREE_PRIME_EXON Unknown significance rs376960548 This variant is a VUS because it does not have enough information. 2 8600 0.000232558 0 4396 0 2 12996 0.000153894 0 10358 0 1 11560 8.65052e-05 0 8654 0 0 6604 0 5 66646 7.50233e-05 0 906 0 0 16510 0 6 121238 4.94894e-05 390474 chr16:75661772:A>G KARS NM_005548:c.*21T>C THREE_PRIME_EXON Unknown significance rs778053495 This variant is a VUS because it does not have enough information. 1 10360 9.65251e-05 0 11560 0 7 8654 0.000808875 0 6604 0 0 66646 0 0 908 0 1 16510 6.05694e-05 9 121242 7.42317e-05 390475 chr16:75661776:C>T KARS NM_005548:c.*17G>A THREE_PRIME_EXON Unknown significance rs747105466 This variant is a VUS because it does not have enough information. 0 10368 0 6 11566 0.000518762 0 8654 0 0 6606 0 0 66660 0 0 908 0 0 16510 0 6 121272 4.94756e-05 390476 chr16:75661792:T>C KARS NM_005548:c.*1A>G THREE_PRIME_EXON Unknown significance rs771377883 This variant is a VUS because it does not have enough information. 0 10382 0 0 11574 0 0 8654 0 0 6610 0 0 66714 0 0 908 0 4 16510 0.000242277 4 121352 3.2962e-05 390477 chr16:75661793:C>T KARS NM_005548:p.Stop598Stop NM_005548:c.1794G>A EXON14 Unknown significance rs781705880 This variant is a VUS because it does not have enough information. 0 10382 0 0 11574 0 6 8654 0.000693321 0 6610 0 0 66710 0 0 908 0 0 16510 0 6 121348 4.94446e-05 390478 chr16:75661798:C>- KARS NM_005548:c.1789delG EXON14 Unknown significance rs755761756 This variant is a VUS because it does not have enough information. 1 10386 9.62835e-05 0 11576 0 0 8654 0 0 6612 0 0 66720 0 0 908 0 0 16510 0 1 121366 8.23954e-06 390479 chr16:75661803:G>C KARS NM_005548:p.Thr595Ser NM_005548:c.1784C>G EXON14 Benign rs6834 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 1.048 C 0.18;0.128 T 0.021;0.012 B 5e-06 D 0.999994 P;P;P 5.82 C 348 8600 0.0404651 1426 4396 0.324386 1774 12996 0.136504 472 1322 0.357 58 1006 0.0577 24 694 0.0346 8 1008 0.0079 63 978 0.0644 625 5008 0.1248 3424 10394 0.329421 302 11578 0.026084 48 8654 0.00554657 449 6614 0.0678863 2804 66728 0.0420213 61 908 0.0671806 890 16510 0.0539067 7978 121386 0.0657242 390480 chr16:75661805:G>A KARS NM_005548:p.Gly594Gly NM_005548:c.1782C>T EXON14 Benign rs191584337 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 5 1008 0.005 1 978 0.001 6 5008 0.00119808 0 10394 0 0 11578 0 59 8654 0.00681766 0 6614 0 1 66728 1.49862e-05 1 908 0.00110132 7 16510 0.000423985 68 121386 0.000560196 390481 chr16:75661810:C>A KARS NM_005548:p.Val593Phe NM_005548:c.1777G>T EXON14 Likely benign rs551766380 Pathogenicity is based on prediction data only. 1 out of 6 predictions were pathogenic. -0.322 N 0.023;0.031 D 0.314;0.108 B 0.571428 N 1 N;N;N -4.07 N 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 1 10396 9.61908e-05 0 11578 0 0 8654 0 0 6614 0 0 66730 0 0 908 0 0 16510 0 1 121390 8.23791e-06 390482 chr16:75661825:G>A KARS NM_005548:p.Leu588Leu NM_005548:c.1762C>T EXON14 Unknown significance rs762532843 This variant is a VUS because it does not have enough information. 0 10392 0 0 11578 0 1 8654 0.000115554 0 6614 0 0 66728 0 0 908 0 0 16510 0 1 121384 8.23832e-06 390483 chr16:75661827:G>- KARS NM_005548:c.1760delC EXON14 Unknown significance rs763797026 This variant is a VUS because it does not have enough information. 2 10398 0.000192345 0 11578 0 0 8654 0 0 6614 0 0 66728 0 0 908 0 0 16510 0 2 121390 1.64758e-05 390484 chr16:75661827:G>T KARS NM_005548:p.Thr587Lys NM_005548:c.1760C>A EXON14 Likely benign rs768294238 Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic. 1.048 C 0.593;0.753 T 0.009;0.126 B 0.898257 N 1 N;N;N 1.09 C 0 10394 0 0 11578 0 0 8654 0 0 6614 0 0 66728 0 0 908 0 2 16510 0.000121139 2 121386 1.64764e-05 390485 chr16:75661833:G>A KARS NM_005548:p.Thr585Ile NM_005548:c.1754C>T EXON14 Unknown significance rs549619745 This variant is a VUS because it does not have enough information. 1.048 C 0.053;0.047 T;D 0.012;0.007 B 0.854636 N 1 D;N;N 4.86 C 390486 chr16:75661835:G>C KARS NM_005548:p.Thr584Thr NM_005548:c.1752C>G EXON14 Unknown significance rs144390077 This variant is a VUS because it does not have enough information. 0.142 N 0.0 D 1 N;N;N -2.41 N 2 8600 0.000232558 0 4396 0 2 12996 0.000153894 0 10398 0 0 11578 0 0 8654 0 0 6614 0 2 66730 2.99715e-05 0 908 0 0 16510 0 2 121392 1.64756e-05 390487 chr16:75661838:T>C KARS NM_005548:p.Ala583Ala NM_005548:c.1749A>G EXON14 Unknown significance rs761365283 This variant is a VUS because it does not have enough information. -1.497 N 0.0 D 1 N;N;N -10.0 N 0 10398 0 0 11578 0 1 8654 0.000115554 0 6614 0 0 66730 0 0 908 0 0 16510 0 1 121392 8.23778e-06 390488 chr16:75661841:T>C KARS NM_005548:p.Val582Val NM_005548:c.1746A>G EXON14 Unknown significance rs767379297 This variant is a VUS because it does not have enough information. 0.122 N 0.0 D 1 N;N;N 2.18 C 0 10398 0 2 11578 0.000172741 0 8654 0 0 6614 0 0 66730 0 0 908 0 0 16510 0 2 121392 1.64756e-05 390489 chr16:75661842:A>G KARS NM_005548:p.Val582Ala NM_005548:c.1745T>C EXON14 Likely benign rs750338644 Pathogenicity is based on prediction data only. 0 out of 6 predictions were pathogenic. -0.803 N 0.954;0.931 T 0.0 B 0.993919 N 1 N;N;N -0.949 N 1 10398 9.61723e-05 0 11578 0 0 8654 0 0 6614 0 0 66730 0 0 908 0 0 16510 0 1 121392 8.23778e-06 390490 chr16:75661842:A>T KARS NM_005548:p.Val582Glu NM_005548:c.1745T>A EXON14 Unknown significance rs750338644 This variant is a VUS because it does not have enough information. -0.803 N 0.999575 D;N;N -0.949 N 0 10398 0 2 11578 0.000172741 0 8654 0 0 6614 0 0 66730 0 0 908 0 0 16510 0 2 121392 1.64756e-05 390491 chr16:75661845:T>G KARS NM_005548:p.Asn581Thr NM_005548:c.1742A>C EXON14 Unknown significance rs117561624 This variant is a VUS because it does not have enough information. -0.822 N 0.0 D 1 N;N;N -1.26 N 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 0 10400 0 0 11578 0 0 8654 0 0 6614 0 3 66730 4.49573e-05 0 908 0 0 16510 0 3 121394 2.47129e-05 390492 chr16:75661847:C>T KARS NM_005548:p.Glu580Glu NM_005548:c.1740G>A EXON14 Unknown significance rs753675208 This variant is a VUS because it does not have enough information. -0.929 N 0.0 D 1 D;N -3.19 N 0 10398 0 0 11578 0 0 8654 0 0 6614 0 2 66730 2.99715e-05 0 908 0 1 16510 6.05694e-05 3 121392 2.47133e-05 390493 chr16:75661850:CTT>- KARS NM_005548:c.1737_1741delAAG EXON14 Unknown significance rs753346124 This variant is a VUS because it does not have enough information. 0 10398 0 0 11578 0 0 8654 0 0 6614 0 6 66730 8.99146e-05 0 908 0 0 16510 0 6 121392 4.94267e-05 390494 chr16:75661852:TCTTG>- KARS NM_005548:c.1735_1741delCAAGA EXON14 Unknown significance rs756837046 This variant is a VUS because it does not have enough information. 0 10398 0 0 11578 0 0 8654 0 0 6614 0 1 66728 1.49862e-05 0 908 0 0 16510 0 1 121390 8.23791e-06 390495 chr16:75661853:C>G KARS NM_005548:p.Lys578Asn NM_005548:c.1734G>C EXON14 Unknown significance rs372437633 This variant is a VUS because it does not have enough information. 0.935 N 0.0 D 0.995425 D;D;N 5.82 C 2 8600 0.000232558 0 4396 0 2 12996 0.000153894 0 10398 0 0 11578 0 0 8654 0 0 6614 0 4 66718 5.99538e-05 0 908 0 0 16510 0 4 121380 3.29544e-05 390496 chr16:75661862:G>A KARS NM_005548:p.Pro575Pro NM_005548:c.1725C>T EXON14 Unknown significance rs184022101 This variant is a VUS because it does not have enough information. -0.725 N 1 D;D;D -11.6 N 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 0 10400 0 0 11578 0 28 8654 0.0032355 0 6614 0 1 66730 1.49858e-05 0 908 0 0 16510 0 29 121394 0.000238892 390497 chr16:75661863:G>C KARS NM_005548:p.Pro575Arg NM_005548:c.1724C>G EXON14 Unknown significance rs148798578 This variant is a VUS because it does not have enough information. 1.048 C 0.0 D 0.945;0.994 P;D 0 D 1 D;D;D 5.82 C 2 8600 0.000232558 0 4396 0 2 12996 0.000153894 0 10398 0 1 11578 8.63707e-05 0 8654 0 0 6614 0 2 66730 2.99715e-05 0 908 0 0 16510 0 3 121392 2.47133e-05 390498 chr16:75661865:T>C KARS NM_005548:p.Lys574Lys NM_005548:c.1722A>G EXON14 Unknown significance rs757309903 This variant is a VUS because it does not have enough information. 0.144 N 0.0 D 1 D;N 2.32 C 1 10396 9.61908e-05 0 11578 0 0 8654 0 0 6614 0 0 66730 0 0 908 0 0 16510 0 1 121390 8.23791e-06 390499 chr16:75661871:G>A KARS NM_005548:p.Ala572Ala NM_005548:c.1716C>T EXON14 Unknown significance rs781580580 This variant is a VUS because it does not have enough information. -0.235 N 0.0 D 1 D;N 2.84 C 0 10396 0 0 11576 0 0 8654 0 0 6610 0 2 66728 2.99724e-05 0 908 0 0 16510 0 2 121382 1.64769e-05 390500 chr16:75661872:G>A KARS NM_005548:p.Ala572Val NM_005548:c.1715C>T EXON14 Unknown significance rs746320017 This variant is a VUS because it does not have enough information. 1.048 C 0.02;0.029 D 0.586;0.999 P;D 0 D 1 D;D;D 5.82 C 0 10396 0 0 11576 0 0 8654 0 0 6610 0 2 66728 2.99724e-05 0 908 0 0 16510 0 2 121382 1.64769e-05 390501 chr16:75661875:G>A KARS NM_005548:p.Pro571Leu NM_005548:c.1712C>T EXON14 Unknown significance rs1802510 This variant is a VUS because it does not have enough information. 1.048 C 0.001 D 1.0 D 0 D 1 D;D;D 6.03 C 390502 chr16:75661877:A>G KARS NM_005548:p.Phe570Phe NM_005548:c.1710T>C EXON14 Unknown significance rs770155332 This variant is a VUS because it does not have enough information. 1.199 C 0.0 D 1 D;N 4.95 C 0 10382 0 0 11576 0 0 8652 0 1 6568 0.000152253 5 66682 7.49828e-05 1 900 0.00111111 0 16510 0 7 121270 5.77224e-05 390503 chr16:75661880:C>G KARS NM_005548:p.Leu569Leu NM_005548:c.1707G>C EXON14 Unknown significance rs780454206 This variant is a VUS because it does not have enough information. 0.935 N 0.0 D 1 D;N 4.01 C 0 10390 0 1 11576 8.63856e-05 0 8654 0 0 6608 0 0 66732 0 0 908 0 0 16510 0 1 121378 8.23873e-06 390504 chr16:75661883:A>T KARS NM_005548:p.Leu568Leu NM_005548:c.1704T>A EXON14 Unknown significance rs549959474 This variant is a VUS because it does not have enough information. 1.199 C 0.0 D 1 D;N 2.53 C 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 0 10390 0 0 11576 0 0 8654 0 0 6608 0 0 66724 0 0 908 0 1 16510 6.05694e-05 1 121370 8.23927e-06 390505 chr16:75661885:G>A KARS NM_005548:p.Leu568Phe NM_005548:c.1702C>T EXON14 Unknown significance rs768349236 This variant is a VUS because it does not have enough information. 1.048 C 0.001 D 1.0 D 0 D 1 D;D;N 6.03 C 0 10388 0 0 11576 0 1 8654 0.000115554 0 6608 0 0 66720 0 0 908 0 0 16510 0 1 121364 8.23968e-06 390506 chr16:75661898:G>T KARS NM_005548:c.1696-7C>A INTRON13 Unknown significance rs375700761 This variant is a VUS because it does not have enough information. 0 8600 0 1 4396 0.00022748 1 12996 7.69468e-05 1 10380 9.63391e-05 0 11572 0 0 8654 0 0 6606 0 0 66698 0 0 908 0 0 16510 0 1 121328 8.24212e-06 390507 chr16:75661900:G>A KARS NM_005548:c.1696-9C>T INTRON13 Unknown significance rs761263838 This variant is a VUS because it does not have enough information. 0 10380 0 0 11572 0 0 8654 0 0 6604 0 1 66696 1.49934e-05 0 908 0 0 16510 0 1 121324 8.24239e-06 390508 chr16:75661903:A>G KARS NM_005548:c.1696-12T>C INTRON13 Unknown significance rs370325473 This variant is a VUS because it does not have enough information. 0 8600 0 1 4396 0.00022748 1 12996 7.69468e-05 1 10382 9.63206e-05 0 11572 0 0 8654 0 0 6602 0 0 66694 0 0 908 0 0 16510 0 1 121322 8.24253e-06 390509 chr16:75661905:G>T KARS NM_005548:c.1696-14C>A INTRON13 Unknown significance rs773042139 This variant is a VUS because it does not have enough information. 0 10380 0 0 11572 0 0 8654 0 0 6602 0 1 66690 1.49948e-05 0 908 0 0 16510 0 1 121316 8.24294e-06 390510 chr16:75661908:T>C KARS NM_005548:c.1696-17A>G INTRON13 Unknown significance rs760726913 This variant is a VUS because it does not have enough information. 0 10382 0 0 11568 0 0 8654 0 0 6600 0 1 66686 1.49957e-05 0 908 0 0 16510 0 1 121308 8.24348e-06 390511 chr16:75661910:T>C KARS NM_005548:c.1696-19A>G INTRON13 Unknown significance rs766411635 This variant is a VUS because it does not have enough information. 0 10380 0 0 11566 0 0 8654 0 1 6600 0.000151515 0 66682 0 0 908 0 0 16510 0 1 121300 8.24402e-06 390512 chr16:75661912:C>T KARS NM_005548:c.1696-21G>A INTRON13 Benign rs188921559 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 50 8600 0.00581395 11 4396 0.00250227 61 12996 0.00469375 0 1322 0 2 1006 0.002 6 694 0.0086 0 1008 0 0 978 0 8 5008 0.00159744 19 10380 0.00183044 18 11564 0.00155655 0 8652 0 3 6600 0.000454545 310 66676 0.00464935 2 908 0.00220264 4 16510 0.000242277 356 121290 0.00293511 390513 chr16:75661918:A>G KARS NM_005548:c.1696-27T>C INTRON13 Unknown significance rs371823244 This variant is a VUS because it does not have enough information. 1 8600 0.000116279 0 4396 0 1 12996 7.69468e-05 1 10374 9.63948e-05 0 11564 0 0 8652 0 0 6600 0 3 66670 4.49978e-05 0 908 0 0 16510 0 4 121278 3.29821e-05 390514 chr16:75661930:CT>- KARS NM_005548:c.1696-39_1696-36delAG INTRON13 Unknown significance rs778496609 This variant is a VUS because it does not have enough information. 0 10364 0 0 11560 0 0 8650 0 1 6596 0.000151607 0 66640 0 0 908 0 0 16510 0 1 121228 8.24892e-06 390515 chr16:75661939:->T KARS NM_005548:c.1696-48_1696-47insA INTRON13 Unknown significance rs767554762 This variant is a VUS because it does not have enough information. 390516 chr16:75661976:T>C KARS NM_005548:c.1696-85A>G INTRON13 Unknown significance rs753428124 This variant is a VUS because it does not have enough information. 390517 chr16:75661991:T>C KARS NM_005548:c.1696-100A>G INTRON13 Unknown significance rs535745141 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 390518 chr16:75662025:AT>- KARS NM_005548:c.1696-134_1696-131delAT INTRON13 Benign rs534800871 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 13 1322 0.0098 0 1006 0 0 694 0 0 1008 0 0 978 0 13 5008 0.00259585 390519 chr16:75662027:G>A KARS NM_005548:c.1696-136C>T INTRON13 Unknown significance rs555726202 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 390520 chr16:75662122:G>C KARS NM_005548:c.1696-231C>G INTRON13 Benign rs150605875 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 15 1322 0.0113 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 16 5008 0.00319489 390521 chr16:75662124:C>T KARS NM_005548:c.1696-233G>A INTRON13 Unknown significance rs761259904 This variant is a VUS because it does not have enough information. 390522 chr16:75662125:G>A KARS NM_005548:c.1696-234C>T INTRON13 Benign rs139697087 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 20 1322 0.0151 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 21 5008 0.00419329 390523 chr16:75662129:T>G KARS NM_005548:c.1696-238A>C INTRON13 Benign rs190958687 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 7 694 0.0101 0 1008 0 0 978 0 7 5008 0.00139776 390524 chr16:75662141:T>C KARS NM_005548:c.1696-250A>G INTRON13 Unknown significance rs368278025 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 390525 chr16:75662143:G>C KARS NM_005548:c.1696-252C>G INTRON13 Benign rs182467493 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 7 694 0.0101 0 1008 0 0 978 0 7 5008 0.00139776 390526 chr16:75662168:A>C KARS NM_005548:c.1696-277T>G INTRON13 Unknown significance rs563533770 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 390527 chr16:75662182:C>T KARS NM_005548:c.1695+285G>A INTRON13 Unknown significance rs764746469 This variant is a VUS because it does not have enough information. 390528 chr16:75662187:C>G KARS NM_005548:c.1695+280G>C INTRON13 Unknown significance rs186710394 This variant is a VUS because it does not have enough information. 390529 chr16:75662187:C>T KARS NM_005548:c.1695+280G>A INTRON13 Unknown significance rs186710394 This variant is a VUS because it does not have enough information. 390530 chr16:75662188:A>C KARS NM_005548:c.1695+279T>G INTRON13 Unknown significance rs371271298 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 390531 chr16:75662210:A>- KARS NM_005548:c.1695+257delT INTRON13 Unknown significance rs780547621 This variant is a VUS because it does not have enough information. 390532 chr16:75662220:C>T KARS NM_005548:c.1695+247G>A INTRON13 Benign rs8051771 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 533 1322 0.4032 60 1006 0.0596 25 694 0.036 8 1008 0.0079 54 978 0.0552 680 5008 0.135783 390533 chr16:75662221:G>A KARS NM_005548:c.1695+246C>T INTRON13 Unknown significance rs780624716 This variant is a VUS because it does not have enough information. 390534 chr16:75662280:G>- KARS NM_005548:c.1695+187delC INTRON13 Benign rs5817957 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 117 1322 0.0885 17 1006 0.0169 16 694 0.0231 39 1008 0.0387 73 978 0.0746 262 5008 0.0523163 390535 chr16:75662282:->A KARS NM_005548:c.1695+185_1695+186insT INTRON13 Unknown significance rs752062672 This variant is a VUS because it does not have enough information. 390536 chr16:75662288:->C KARS NM_005548:c.1695+179_1695+180insG INTRON13 Unknown significance rs34920043 This variant is a VUS because it does not have enough information. 390537 chr16:75662304:T>C KARS NM_005548:c.1695+163A>G INTRON13 Unknown significance rs191517410 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 390538 chr16:75662317:C>T KARS NM_005548:c.1695+150G>A INTRON13 Unknown significance rs528801591 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 390539 chr16:75662342:C>G KARS NM_005548:c.1695+125G>C INTRON13 Unknown significance rs551437513 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 390540 chr16:75662360:C>G KARS NM_005548:c.1695+107G>C INTRON13 Unknown significance rs565287310 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 390541 chr16:75662362:A>G KARS NM_005548:c.1695+105T>C INTRON13 Unknown significance rs530896888 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 390542 chr16:75662416:A>G KARS NM_005548:c.1695+51T>C INTRON13 Unknown significance rs751953303 This variant is a VUS because it does not have enough information. 0 10192 0 0 11526 0 0 8652 0 0 6576 0 1 66666 1.50002e-05 0 902 0 0 16500 0 1 121014 8.26351e-06 390543 chr16:75662422:T>C KARS NM_005548:c.1695+45A>G INTRON13 Unknown significance rs751764695 This variant is a VUS because it does not have enough information. 0 10196 0 0 11532 0 0 8652 0 0 6588 0 0 66688 0 0 902 0 1 16502 6.05987e-05 1 121060 8.26037e-06 390544 chr16:75662427:C>G KARS NM_005548:c.1695+40G>C INTRON13 Unknown significance rs757287180 This variant is a VUS because it does not have enough information. 0 10196 0 1 11532 8.67152e-05 0 8650 0 0 6582 0 0 66684 0 0 902 0 0 16504 0 1 121050 8.26105e-06 390545 chr16:75662427:C>T KARS NM_005548:c.1695+40G>A INTRON13 Unknown significance rs757287180 This variant is a VUS because it does not have enough information. 2 10196 0.000196155 0 11532 0 0 8650 0 0 6582 0 0 66684 0 0 902 0 0 16504 0 2 121050 1.65221e-05 390546 chr16:75662430:C>T KARS NM_005548:c.1695+37G>A INTRON13 Unknown significance rs551141922 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 2 978 0.002 2 5008 0.000399361 0 10196 0 0 11538 0 0 8652 0 0 6588 0 0 66686 0 0 902 0 24 16502 0.00145437 24 121064 0.000198242 390547 chr16:75662434:AGGA>- KARS NM_005548:c.1695+33_1695+38delTCCT INTRON13 Unknown significance rs745828246 This variant is a VUS because it does not have enough information. 0 10198 0 1 11536 8.66852e-05 0 8652 0 0 6590 0 0 66682 0 0 902 0 0 16502 0 1 121062 8.26023e-06 390548 chr16:75662435:G>A KARS NM_005548:c.1695+32C>T INTRON13 Unknown significance rs756654729 This variant is a VUS because it does not have enough information. 0 10206 0 0 11540 0 0 8654 0 0 6590 0 0 66690 0 0 902 0 1 16504 6.05914e-05 1 121086 8.25859e-06 390549 chr16:75662436:G>A KARS NM_005548:c.1695+31C>T INTRON13 Unknown significance rs780517583 This variant is a VUS because it does not have enough information. 0 10202 0 0 11538 0 1 8654 0.000115554 1 6590 0.000151745 0 66694 0 0 902 0 2 16504 0.000121183 4 121084 3.30349e-05 390551 chr16:75662442:T>C KARS NM_005548:c.1695+25A>G INTRON13 Unknown significance This variant is a VUS because it does not have enough information. 0 10242 0 0 11548 0 0 8654 0 0 6588 0 1 66704 1.49916e-05 0 902 0 0 16504 0 1 121142 8.25478e-06 390550 chr16:75662443:GC>- KARS NM_005548:c.1695+24_1695+27delGC INTRON13 Unknown significance rs758359458 This variant is a VUS because it does not have enough information. 0 10242 0 0 11548 0 0 8654 0 0 6588 0 1 66704 1.49916e-05 0 902 0 0 16504 0 1 121142 8.25478e-06 390552 chr16:75662451:G>A KARS NM_005548:c.1695+16C>T INTRON13 Unknown significance rs749677486 This variant is a VUS because it does not have enough information. 1 10306 9.70309e-05 0 11554 0 0 8654 0 0 6592 0 0 66706 0 0 902 0 0 16506 0 1 121220 8.24946e-06 390553 chr16:75662459:C>T KARS NM_005548:c.1695+8G>A INTRON13 Unknown significance rs755297356 This variant is a VUS because it does not have enough information. 0 10368 0 0 11558 0 0 8654 0 5 6596 0.000758035 0 66704 0 0 906 0 0 16506 0 5 121292 4.12228e-05 390554 chr16:75662462:C>T KARS NM_005548:c.1695+5G>A INTRON13 Unknown significance rs778438390 This variant is a VUS because it does not have enough information. 0 10374 0 0 11560 0 0 8654 0 0 6594 0 0 66706 0 0 906 0 6 16506 0.000363504 6 121300 4.94641e-05 390555 chr16:75662463:G>A KARS NM_005548:c.1695+4C>T INTRON13 Unknown significance rs747781002 This variant is a VUS because it does not have enough information. 0 10382 0 0 11560 0 3 8654 0.000346661 0 6598 0 0 66704 0 0 906 0 0 16506 0 3 121310 2.473e-05 390556 chr16:75662466:C>A KARS NM_005548:c.1695+1G>T INTRON13 Unknown significance rs771615020 This variant is a VUS because it does not have enough information. 0.935 N 1 D 6.16 C 0 10380 0 0 11564 0 0 8654 0 0 6598 0 0 66702 0 0 906 0 1 16506 6.0584e-05 1 121310 8.24334e-06 390557 chr16:75662468:T>C KARS NM_005548:p.Lys565Arg NM_005548:c.1694A>G EXON13 Unknown significance rs772849634 This variant is a VUS because it does not have enough information. 1.061 C 0.26;0.232 T 0.206;1.0 B;D 0 D 1 D;D;D 6.16 C 0 10380 0 0 11562 0 0 8654 0 0 6598 0 1 66706 1.49912e-05 0 906 0 0 16506 0 1 121312 8.24321e-06 390558 chr16:75662474:T>A KARS NM_005548:p.Asn563Ile NM_005548:c.1688A>T EXON13 Unknown significance rs746483110 This variant is a VUS because it does not have enough information. 1.061 C 0.001 D 0.992;1.0 D 0 D 1 D;D;D 5.06 C 0 10390 0 0 11560 0 0 8654 0 0 6602 0 2 66698 2.99859e-05 0 906 0 0 16506 0 2 121316 1.64859e-05 390559 chr16:75662475:T>G KARS NM_005548:p.Asn563His NM_005548:c.1687A>C EXON13 Unknown significance rs141501602 This variant is a VUS because it does not have enough information. 1.061 C 0.034;0.0 D 0.853;1.0 P;D 0 D 1 D;D;D 6.16 C 1 8600 0.000116279 0 4396 0 1 12996 7.69468e-05 0 10390 0 1 11560 8.65052e-05 0 8654 0 0 6602 0 4 66708 5.99628e-05 0 906 0 0 16506 0 5 121326 4.12113e-05 390560 chr16:75662477:T>C KARS NM_005548:p.Asn562Ser NM_005548:c.1685A>G EXON13 Unknown significance rs776658394 This variant is a VUS because it does not have enough information. 1.061 C 0.146;0.134 T 0.0;0.056 B 0 D 1 D;D;D 6.16 C 0 10390 0 0 11560 0 1 8654 0.000115554 0 6602 0 0 66700 0 0 906 0 0 16508 0 1 121320 8.24266e-06 390561 chr16:75662480:G>C KARS NM_005548:p.Ser561Cys NM_005548:c.1682C>G EXON13 Unknown significance rs759432090 This variant is a VUS because it does not have enough information. 1.048 C 0.054;0.032 T;D 0.953;0.97 P;D 0 D 1 D;D;D 6.16 C 0 10394 0 0 11560 0 1 8654 0.000115554 0 6602 0 0 66698 0 0 906 0 0 16508 0 1 121322 8.24253e-06 390562 chr16:75662485:C>A KARS NM_005548:p.Thr559Thr NM_005548:c.1677G>T EXON13 Unknown significance rs765014185 This variant is a VUS because it does not have enough information. 0 10396 0 0 11562 0 0 8654 0 0 6602 0 1 66702 1.49921e-05 0 906 0 0 16510 0 1 121332 8.24185e-06 390563 chr16:75662486:G>A KARS NM_005548:p.Thr559Met NM_005548:c.1676C>T EXON13 Pathogenic Development delay, hypotonia 23596069 rs774447299 Pathogenicity is based on the literature provided in PubMed. 1.048 C 0.0 D 1.0 D 0 D 1 D;D;D 6.16 C 0 10398 0 3 11564 0.000259426 0 8654 0 0 6602 0 3 66710 4.49708e-05 0 906 0 0 16510 0 6 121344 4.94462e-05 390564 chr16:75662488:G>A KARS NM_005548:p.Leu558Leu NM_005548:c.1674C>T EXON13 Benign rs143267922 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 6 8600 0.000697674 27 4396 0.00614195 33 12996 0.00253924 7 1322 0.0053 1 1006 0.001 3 694 0.0043 0 1008 0 0 978 0 11 5008 0.00219649 79 10396 0.00759908 18 11568 0.00155602 0 8654 0 0 6602 0 55 66708 0.000824489 1 906 0.00110375 0 16510 0 153 121344 0.00126088 390565 chr16:75662490:G>A KARS NM_005548:p.Leu558Phe NM_005548:c.1672C>T EXON13 Unknown significance rs201176171 This variant is a VUS because it does not have enough information. 1.048 C 0.014;0.019 D 0.807;0.96 P;D 0 D 1 D;D;D 5.21 C 390566 chr16:75662497:G>- KARS NM_005548:c.1665delC EXON13 Unknown significance rs780045874 This variant is a VUS because it does not have enough information. 0 10398 0 0 11570 0 0 8654 0 0 6604 0 1 66714 1.49894e-05 0 906 0 0 16512 0 1 121358 8.24008e-06 390567 chr16:75662499:C>T KARS NM_005548:p.Ala555Thr NM_005548:c.1663G>A EXON13 Likely benign rs571409000 Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic. 0.125 N 1.0 T 0.0 B 0.00038 N 0.55189 D;D;D 3.95 C 0 10400 0 0 11570 0 0 8654 0 0 6604 0 4 66712 5.99592e-05 0 906 0 0 16510 0 4 121356 3.29609e-05 390568 chr16:75662500:G>A KARS NM_005548:p.Val554Val NM_005548:c.1662C>T EXON13 Unknown significance rs750566432 This variant is a VUS because it does not have enough information. 0 10400 0 0 11568 0 0 8652 0 0 6604 0 2 66714 2.99787e-05 0 906 0 1 16510 6.05694e-05 3 121354 2.47211e-05 390569 chr16:75662514:C>A KARS NM_005548:p.Gly550Cys NM_005548:c.1648G>T EXON13 Unknown significance rs374972641 This variant is a VUS because it does not have enough information. 0.935 N 0.0 D 1.0 D 0 D 1 D;D;D 6.16 C 0 8600 0 1 4396 0.00022748 1 12996 7.69468e-05 1 10400 9.61538e-05 0 11566 0 0 8652 0 0 6608 0 0 66718 0 0 906 0 0 16508 0 1 121358 8.24008e-06 390570 chr16:75662515:C>A KARS NM_005548:p.Met549Ile NM_005548:c.1647G>T EXON13 Unknown significance rs368988143 This variant is a VUS because it does not have enough information. 0.935 N 0.183;0.13 T 0.005;0.183 B 0 D 1 D;D;D 6.16 C 0 8600 0 1 4396 0.00022748 1 12996 7.69468e-05 1 10400 9.61538e-05 0 11566 0 0 8652 0 0 6608 0 0 66716 0 0 906 0 0 16512 0 1 121360 8.23995e-06 390571 chr16:75662527:A>C KARS NM_005548:p.Ala545Ala NM_005548:c.1635T>G EXON13 Unknown significance rs754279970 This variant is a VUS because it does not have enough information. 0 10398 0 1 11568 8.64454e-05 0 8654 0 0 6612 0 0 66716 0 0 904 0 0 16510 0 1 121362 8.23981e-06 390572 chr16:75662529:C>T KARS NM_005548:p.Ala545Thr NM_005548:c.1633G>A EXON13 Unknown significance rs755352453 This variant is a VUS because it does not have enough information. 0.852 N 0.001 D 0.24;1.0 B;D 0 D 1 D;D;D 5.98 C 0 10400 0 0 11570 0 0 8652 0 0 6612 0 0 66720 0 0 906 0 1 16510 6.05694e-05 1 121370 8.23927e-06 390573 chr16:75662533:G>T KARS NM_005548:p.Pro543Pro NM_005548:c.1629C>A EXON13 Unknown significance rs139719193 This variant is a VUS because it does not have enough information. 1 8600 0.000116279 0 4396 0 1 12996 7.69468e-05 0 10392 0 0 11568 0 0 8650 0 0 6610 0 1 66668 1.49997e-05 0 906 0 0 16506 0 1 121300 8.24402e-06 390574 chr16:75662538:G>A KARS NM_005548:p.Pro542Ser NM_005548:c.1624C>T EXON13 Unknown significance rs748461134 This variant is a VUS because it does not have enough information. 0.953 C 0.001 D 1.0 D 0 D 1 D;D;D 5.98 C 0 10400 0 0 11566 0 0 8650 0 0 6612 0 1 66722 1.49876e-05 0 906 0 0 16510 0 1 121366 8.23954e-06 390575 chr16:75662540:A>G KARS NM_005548:p.Leu541Pro NM_005548:c.1622T>C EXON13 Unknown significance rs758106723 This variant is a VUS because it does not have enough information. 1.088 C 0.014;0.016 D 0.966;0.983 D 0 D 1 D;D;D 5.98 C 0 10400 0 0 11570 0 0 8650 0 0 6612 0 0 66726 0 0 906 0 1 16510 6.05694e-05 1 121374 8.239e-06 390576 chr16:75662551:C>G KARS NM_005548:p.Leu537Leu NM_005548:c.1611G>C EXON13 Unknown significance rs777264865 This variant is a VUS because it does not have enough information. 0 10400 0 1 11572 8.64155e-05 0 8652 0 0 6610 0 0 66732 0 0 906 0 0 16510 0 1 121382 8.23845e-06 390577 chr16:75662566:G>A KARS NM_005548:p.Asn532Asn NM_005548:c.1596C>T EXON13 Unknown significance rs746538193 This variant is a VUS because it does not have enough information. 0 10400 0 0 11572 0 1 8654 0.000115554 0 6614 0 0 66726 0 0 906 0 0 16510 0 1 121382 8.23845e-06 390578 chr16:75662588:TCA>- KARS NM_005548:c.1574_1578delTGA EXON13 Unknown significance rs746792084 This variant is a VUS because it does not have enough information. 0 10396 0 0 11572 0 0 8654 0 0 6614 0 1 66716 1.49889e-05 0 906 0 0 16508 0 1 121366 8.23954e-06 390579 chr16:75662589:C>T KARS NM_005548:p.Glu525Lys NM_005548:c.1573G>A EXON13 Pathogenic Visual loss, progressive microcephaly, developmental delay, seizures, and abnormal subcortical white matter 25330800 rs770522582 Pathogenicity is based on the literature provided in PubMed. 0.852 N 0.0 D 1.0 D 0 D 1 D;D;D 5.76 C 0 10394 0 0 11572 0 0 8654 0 0 6614 0 1 66714 1.49894e-05 0 906 0 0 16510 0 1 121364 8.23968e-06 390580 chr16:75662602:A>G KARS NM_005548:p.Ala520Ala NM_005548:c.1560T>C EXON13 Unknown significance rs201512705 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 10380 0 0 11572 0 5 8654 0.000577768 0 6614 0 0 66660 0 0 908 0 0 16506 0 5 121294 4.12222e-05 390581 chr16:75662615:A>C KARS NM_005548:c.1552-5T>G INTRON12 Unknown significance rs745740229 This variant is a VUS because it does not have enough information. 0 10356 0 0 11570 0 0 8654 0 0 6614 0 2 66618 3.00219e-05 0 908 0 0 16506 0 2 121226 1.64981e-05 390582 chr16:75662616:A>C KARS NM_005548:c.1552-6T>G INTRON12 Unknown significance rs147548667 This variant is a VUS because it does not have enough information. 6 8600 0.000697674 0 4396 0 6 12996 0.000461681 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 0 10356 0 0 11572 0 0 8654 0 0 6614 0 24 66610 0.000360306 0 908 0 8 16506 0.000484672 32 121220 0.000263983 390583 chr16:75662620:G>T KARS NM_005548:c.1552-10C>A INTRON12 Unknown significance rs370881308 This variant is a VUS because it does not have enough information. 1 8600 0.000116279 0 4396 0 1 12996 7.69468e-05 0 10350 0 0 11572 0 0 8654 0 0 6614 0 1 66578 1.502e-05 0 908 0 0 16504 0 1 121180 8.25219e-06 390584 chr16:75662626:G>C KARS NM_005548:c.1552-16C>G INTRON12 Unknown significance rs762634834 This variant is a VUS because it does not have enough information. 1 10340 9.67118e-05 0 11570 0 0 8654 0 0 6614 0 0 66558 0 0 908 0 0 16504 0 1 121148 8.25437e-06 390585 chr16:75662636:G>A KARS NM_005548:c.1552-26C>T INTRON12 Unknown significance rs767803941 This variant is a VUS because it does not have enough information. 0 10324 0 0 11568 0 0 8652 0 0 6612 0 0 66528 0 0 908 0 1 16502 6.05987e-05 1 121094 8.25805e-06 390586 chr16:75662638:G>A KARS NM_005548:c.1552-28C>T INTRON12 Unknown significance rs368550141 This variant is a VUS because it does not have enough information. 1 8600 0.000116279 0 4396 0 1 12996 7.69468e-05 0 10320 0 0 11564 0 0 8654 0 0 6612 0 1 66518 1.50335e-05 0 908 0 0 16502 0 1 121078 8.25914e-06 390587 chr16:75662639:A>G KARS NM_005548:c.1552-29T>C INTRON12 Unknown significance rs372866185 This variant is a VUS because it does not have enough information. 1 8600 0.000116279 0 4396 0 1 12996 7.69468e-05 390588 chr16:75662644:C>T KARS NM_005548:c.1552-34G>A INTRON12 Unknown significance rs760749777 This variant is a VUS because it does not have enough information. 0 10316 0 1 11560 8.65052e-05 0 8652 0 0 6612 0 0 66488 0 0 904 0 0 16500 0 1 121032 8.26228e-06 390589 chr16:75662649:A>G KARS NM_005548:c.1552-39T>C INTRON12 Unknown significance rs766392079 This variant is a VUS because it does not have enough information. 0 10292 0 0 11558 0 0 8648 0 0 6612 0 0 66472 0 0 904 0 1 16498 6.06134e-05 1 120984 8.26556e-06 390590 chr16:75662652:A>G KARS NM_005548:c.1552-42T>C INTRON12 Unknown significance rs748357802 This variant is a VUS because it does not have enough information. 390591 chr16:75662653:T>C KARS NM_005548:c.1552-43A>G INTRON12 Unknown significance rs753904809 This variant is a VUS because it does not have enough information. 0 10278 0 0 11550 0 0 8644 0 0 6610 0 0 66430 0 0 904 0 1 16490 6.06428e-05 1 120906 8.27089e-06 390592 chr16:75662660:G>A KARS NM_005548:c.1552-50C>T INTRON12 Unknown significance rs755550385 This variant is a VUS because it does not have enough information. 0 10256 0 0 11542 0 0 8638 0 0 6608 0 0 66324 0 0 902 0 1 16488 6.06502e-05 1 120758 8.28102e-06 390593 chr16:75662660:G>C KARS NM_005548:c.1552-50C>G INTRON12 Unknown significance rs755550385 This variant is a VUS because it does not have enough information. 0 10256 0 0 11542 0 0 8638 0 0 6608 0 1 66324 1.50775e-05 0 902 0 0 16488 0 1 120758 8.28102e-06 390594 chr16:75662689:G>A KARS NM_005548:c.1552-79C>T INTRON12 Unknown significance rs565810216 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 390595 chr16:75662695:G>A KARS NM_005548:c.1552-85C>T INTRON12 Unknown significance rs367743453 This variant is a VUS because it does not have enough information. 390596 chr16:75662720:C>G KARS NM_005548:c.1552-110G>C INTRON12 Unknown significance rs534920111 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 390597 chr16:75662731:G>C KARS NM_005548:c.1552-121C>G INTRON12 Unknown significance rs183997185 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 390598 chr16:75662775:G>A KARS NM_005548:c.1552-165C>T INTRON12 Unknown significance rs577610722 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 390599 chr16:75662813:C>T KARS NM_005548:c.1552-203G>A INTRON12 Unknown significance rs536748840 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 390600 chr16:75662814:G>A KARS NM_005548:c.1552-204C>T INTRON12 Benign rs187360311 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 14 1322 0.0106 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 15 5008 0.00299521 390601 chr16:75662817:C>T KARS NM_005548:c.1552-207G>A INTRON12 Unknown significance rs573883389 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 390602 chr16:75662830:C>- KARS NM_005548:c.1552-220delG INTRON12 Benign rs372548951 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 24 1322 0.0182 0 1006 0 0 694 0 0 1008 0 0 978 0 24 5008 0.00479233 390603 chr16:75662844:A>G KARS NM_005548:c.1552-234T>C INTRON12 Unknown significance rs533853984 This variant is a VUS because it does not have enough information. 390604 chr16:75662867:G>A KARS NM_005548:c.1552-257C>T INTRON12 Benign rs79248873 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 42 1322 0.0318 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 43 5008 0.00858626 390605 chr16:75662873:G>C KARS NM_005548:c.1552-263C>G INTRON12 Benign rs9938305 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 21 1322 0.0159 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 22 5008 0.00439297 390606 chr16:75662875:A>C KARS NM_005548:c.1552-265T>G INTRON12 Unknown significance rs145594236 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 390607 chr16:75662883:C>T KARS NM_005548:c.1552-273G>A INTRON12 Benign rs41505349 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 766 1322 0.5794 121 1006 0.1203 283 694 0.4078 757 1008 0.751 478 978 0.4888 2405 5008 0.480232 390608 chr16:75662886:G>T KARS NM_005548:c.1552-276C>A INTRON12 Unknown significance rs573851246 This variant is a VUS because it does not have enough information. 390609 chr16:75662925:T>G KARS NM_005548:c.1552-315A>C INTRON12 Benign rs61588474 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 533 1322 0.4032 60 1006 0.0596 26 694 0.0375 8 1008 0.0079 62 978 0.0634 689 5008 0.13758 390610 chr16:75662928:C>T KARS NM_005548:c.1552-318G>A INTRON12 Unknown significance rs530962337 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 390611 chr16:75662929:A>G KARS NM_005548:c.1552-319T>C INTRON12 Unknown significance rs372069313 This variant is a VUS because it does not have enough information. 390612 chr16:75662962:C>G KARS NM_005548:c.1551+351G>C INTRON12 Unknown significance rs760430798 This variant is a VUS because it does not have enough information. 390613 chr16:75662972:G>A KARS NM_005548:c.1551+341C>T INTRON12 Unknown significance rs551078553 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 390614 chr16:75663011:C>A KARS NM_005548:c.1551+302G>T INTRON12 Benign rs76197636 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 69 1322 0.0522 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 71 5008 0.0141773 390615 chr16:75663050:A>C KARS NM_005548:c.1551+263T>G INTRON12 Unknown significance rs377202444 This variant is a VUS because it does not have enough information. 390616 chr16:75663052:T>C KARS NM_005548:c.1551+261A>G INTRON12 Unknown significance rs556382276 This variant is a VUS because it does not have enough information. 390617 chr16:75663094:C>T KARS NM_005548:c.1551+219G>A INTRON12 Unknown significance rs192980764 This variant is a VUS because it does not have enough information. 390618 chr16:75663095:G>A KARS NM_005548:c.1551+218C>T INTRON12 Unknown significance rs530241006 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 1 1008 0.001 0 978 0 2 5008 0.000399361 390619 chr16:75663102:A>G KARS NM_005548:c.1551+211T>C INTRON12 Benign rs75584151 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 69 1322 0.0522 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 71 5008 0.0141773 390620 chr16:75663106:G>A KARS NM_005548:c.1551+207C>T INTRON12 Benign rs58508930 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 9 1322 0.0068 43 1006 0.0427 238 694 0.3429 710 1008 0.7044 342 978 0.3497 1342 5008 0.267971 390621 chr16:75663132:T>C KARS NM_005548:c.1551+181A>G INTRON12 Unknown significance rs528366722 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 390622 chr16:75663137:G>C KARS NM_005548:c.1551+176C>G INTRON12 Unknown significance rs551702862 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 390623 chr16:75663175:G>T KARS NM_005548:c.1551+138C>A INTRON12 Benign rs145502323 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 11 1008 0.0109 0 978 0 11 5008 0.00219649 390624 chr16:75663181:C>A KARS NM_005548:c.1551+132G>T INTRON12 Unknown significance rs763809602 This variant is a VUS because it does not have enough information. 390625 chr16:75663189:->A KARS NM_005548:c.1551+124_1551+125insT INTRON12 Benign rs56951212 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 824 1322 0.6233 120 1006 0.1193 285 694 0.4107 757 1008 0.751 477 978 0.4877 2463 5008 0.491813 390626 chr16:75663190:->C KARS NM_005548:c.1551+123_1551+124insG INTRON12 Unknown significance rs753552862 This variant is a VUS because it does not have enough information. 390627 chr16:75663223:C>T KARS NM_005548:c.1551+90G>A INTRON12 Unknown significance rs536684052 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 390628 chr16:75663231:G>A KARS NM_005548:c.1551+82C>T INTRON12 Unknown significance rs556556718 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 390629 chr16:75663244:C>A KARS NM_005548:c.1551+69G>T INTRON12 Unknown significance rs568253158 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 390630 chr16:75663246:G>C KARS NM_005548:c.1551+67C>G INTRON12 Unknown significance rs772767874 This variant is a VUS because it does not have enough information. 390631 chr16:75663271:T>A KARS NM_005548:c.1551+42A>T INTRON12 Unknown significance rs763605905 This variant is a VUS because it does not have enough information. 390632 chr16:75663293:C>T KARS NM_005548:c.1551+20G>A INTRON12 Unknown significance rs753151962 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 66736 1.49844e-05 0 908 0 0 16512 0 1 121408 8.23669e-06 390633 chr16:75663295:CA>- KARS NM_005548:c.1551+18_1551+21delTG INTRON12 Unknown significance rs769981436 This variant is a VUS because it does not have enough information. 0 10404 0 0 11578 0 0 8654 0 0 6614 0 1 66736 1.49844e-05 0 908 0 0 16512 0 1 121406 8.23683e-06 390634 chr16:75663300:T>A KARS NM_005548:c.1551+13A>T INTRON12 Unknown significance rs376381891 This variant is a VUS because it does not have enough information. 0 8600 0 3 4396 0.000682439 3 12996 0.00023084 7 10404 0.000672818 0 11578 0 0 8652 0 0 6614 0 0 66736 0 0 908 0 0 16512 0 7 121404 5.76587e-05 390635 chr16:75663301:C>T KARS NM_005548:c.1551+12G>A INTRON12 Unknown significance rs777510165 This variant is a VUS because it does not have enough information. 0 10404 0 0 11578 0 0 8652 0 0 6614 0 0 66734 0 0 908 0 1 16512 6.0562e-05 1 121402 8.2371e-06 390636 chr16:75663303:C>T KARS NM_005548:c.1551+10G>A INTRON12 Unknown significance rs367722503 This variant is a VUS because it does not have enough information. 2 8600 0.000232558 0 4396 0 2 12996 0.000153894 0 10404 0 0 11578 0 0 8652 0 1 6614 0.000151194 11 66734 0.000164834 0 908 0 0 16512 0 12 121402 9.88452e-05 390637 chr16:75663309:T>A KARS NM_005548:c.1551+4A>T INTRON12 Unknown significance rs535950337 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 8652 0 0 6614 0 0 66736 0 0 908 0 1 16512 6.0562e-05 1 121406 8.23683e-06 390638 chr16:75663324:C>A KARS NM_005548:p.Glu514Stop NM_005548:c.1540G>T EXON12 Unknown significance rs372025031 This variant is a VUS because it does not have enough information. 0.935 N 1.5e-05 D 1 A;A;D 5.81 C 0 8600 0 1 4396 0.00022748 1 12996 7.69468e-05 390639 chr16:75663327:C>A KARS NM_005548:p.Glu513Stop NM_005548:c.1537G>T EXON12 Unknown significance rs75096057 This variant is a VUS because it does not have enough information. 0.935 N 0 D 1 A;A;D 5.81 C 390640 chr16:75663327:C>T KARS NM_005548:p.Glu513Lys NM_005548:c.1537G>A EXON12 Unknown significance rs75096057 This variant is a VUS because it does not have enough information. 0.935 N 0.077;0.071 T 0.02;0.22 B 0 D 1 D;D;D 5.81 C 0 10406 0 0 11578 0 1 8652 0.00011558 0 6614 0 0 66736 0 0 908 0 0 16512 0 1 121406 8.23683e-06 390641 chr16:75663333:G>C KARS NM_005548:p.Leu511Val NM_005548:c.1531C>G EXON12 Unknown significance rs745366731 This variant is a VUS because it does not have enough information. 1.048 C 0.071;0.07 T 0.013;0.372 B 0 D 1 D;D;D 5.81 C 1 10196 9.80777e-05 0 11578 0 0 8652 0 0 6572 0 1 66402 1.50598e-05 0 902 0 0 16512 0 2 120814 1.65544e-05 390642 chr16:75663338:C>T KARS NM_005548:p.Arg509Gln NM_005548:c.1526G>A EXON12 Unknown significance rs769808930 This variant is a VUS because it does not have enough information. 0.935 N 0.025;0.022 D 0.818;0.957 P;D 0 D 1 D;D;D 5.81 C 0 10406 0 0 11578 0 0 8652 0 0 6614 0 1 66738 1.4984e-05 0 908 0 0 16512 0 1 121408 8.23669e-06 390643 chr16:75663339:G>A KARS NM_005548:p.Arg509Trp NM_005548:c.1525C>T EXON12 Likely pathogenic NSHL/ autosomal recessive DFNB89 10/22/2015 -- Manually curated by the MORL. 0.079 N 0.0 D 1.0 D 0 D 1 D;D;D 4.84 C 390644 chr16:75663344:C>T KARS NM_005548:p.Arg507Gln NM_005548:c.1520G>A EXON12 Unknown significance rs752076127 This variant is a VUS because it does not have enough information. 0.069 N 0.565;0.57 T 0.0;0.005 B 2e-06 D 0.999999 D;D;D 4.87 C 0 10406 0 1 11576 8.63856e-05 0 8652 0 0 6614 0 2 66736 2.99688e-05 0 908 0 0 16510 0 3 121402 2.47113e-05 390645 chr16:75663345:G>A KARS NM_005548:p.Arg507Trp NM_005548:c.1519C>T EXON12 Unknown significance rs749139832 This variant is a VUS because it does not have enough information. 1.048 C 0.018 D 0.909;0.949 P 2e-06 D 0.999999 D;D;D 2.75 C 0 10406 0 2 11578 0.000172741 1 8652 0.00011558 0 6614 0 1 66736 1.49844e-05 0 906 0 1 16510 6.05694e-05 5 121402 4.11855e-05 390646 chr16:75663354:C>T KARS NM_005548:p.Asp504Asn NM_005548:c.1510G>A EXON12 Unknown significance rs768271183 This variant is a VUS because it does not have enough information. 0.935 N 0.19;0.204 T 0.54;0.999 P;D 0 D 1 D;D;D 5.81 C 0 10406 0 0 11578 0 0 8652 0 0 6614 0 0 66736 0 0 908 0 1 16510 6.05694e-05 1 121404 8.23696e-06 390647 chr16:75663370:C>T KARS NM_005548:p.Ala498Ala NM_005548:c.1494G>A EXON12 Unknown significance rs374568114 This variant is a VUS because it does not have enough information. 1 8600 0.000116279 0 4396 0 1 12996 7.69468e-05 3 10406 0.000288295 0 11578 0 1 8652 0.00011558 0 6614 0 3 66738 4.49519e-05 0 908 0 0 16510 0 7 121406 5.76578e-05 390648 chr16:75663374:T>A KARS NM_005548:p.Asn497Ile NM_005548:c.1490A>T EXON12 Unknown significance rs760948024 This variant is a VUS because it does not have enough information. 1.061 C 0.0 D 1.0 D 0 D 1 D;D;D 5.81 C 0 10406 0 1 11576 8.63856e-05 0 8652 0 0 6614 0 0 66736 0 0 908 0 0 16510 0 1 121402 8.2371e-06 390649 chr16:75663374:T>C KARS NM_005548:p.Asn497Ser NM_005548:c.1490A>G EXON12 Unknown significance rs760948024 This variant is a VUS because it does not have enough information. 1.061 C 0.001 D 1.0 D 0 D 1 D;D;D 5.81 C 0 10406 0 0 11576 0 0 8652 0 0 6614 0 1 66736 1.49844e-05 0 908 0 0 16510 0 1 121402 8.2371e-06 390650 chr16:75663378:A>G KARS NM_005548:p.Cys496Arg NM_005548:c.1486T>C EXON12 Unknown significance rs776736207 This variant is a VUS because it does not have enough information. 1.199 C 0.0 D 0.998;1.0 D 0 D 1 D;D;D 5.81 C 0 10406 0 0 11576 0 0 8652 0 0 6614 0 1 66738 1.4984e-05 0 908 0 0 16510 0 1 121404 8.23696e-06 390651 chr16:75663379:T>C KARS NM_005548:p.Ile495Met NM_005548:c.1485A>G EXON12 Unknown significance rs144274136 This variant is a VUS because it does not have enough information. 0.113 N 0.001 D 0.002;0.796 B;P 0.000644 D 0.999997 D;D;D -3.29 N 4 8600 0.000465116 1 4396 0.00022748 5 12996 0.000384734 2 10406 0.000192197 0 11576 0 0 8652 0 3 6614 0.000453583 79 66738 0.00118373 0 908 0 0 16510 0 84 121404 0.000691905 390652 chr16:75663382:C>G KARS NM_005548:p.Glu494Asp NM_005548:c.1482G>C EXON12 Unknown significance rs527539107 This variant is a VUS because it does not have enough information. -0.491 N 0.0 D 1.0;0.999 D 0 D 1 D;D;D -0.749 N 390653 chr16:75663388:C>A KARS NM_005548:p.Lys492Asn NM_005548:c.1476G>T EXON12 Unknown significance rs376962917 This variant is a VUS because it does not have enough information. 0.935 N 0.03;0.025 D 0.005;0.984 B;D 0 D 1 D;D;D 2.84 C 1 10406 9.60984e-05 0 11576 0 0 8652 0 0 6614 0 0 66738 0 0 908 0 0 16510 0 1 121404 8.23696e-06 390654 chr16:75663388:C>T KARS NM_005548:p.Lys492Lys NM_005548:c.1476G>A EXON12 Unknown significance rs376962917 This variant is a VUS because it does not have enough information. 2 8600 0.000232558 0 4396 0 2 12996 0.000153894 0 10406 0 0 11576 0 0 8652 0 0 6614 0 7 66738 0.000104888 0 908 0 0 16510 0 7 121404 5.76587e-05 390656 chr16:75663392:A>G KARS NM_005548:p.Met491Thr NM_005548:c.1472T>C EXON12 Unknown significance rs763377687 This variant is a VUS because it does not have enough information. 1.199 C 0.202;0.23 T 0.012;0.787 B;P 0 D 1 D;D;D 5.81 C 0 10406 0 0 11576 0 0 8652 0 0 6614 0 1 66738 1.4984e-05 0 908 0 0 16510 0 1 121404 8.23696e-06 390655 chr16:75663393:->T KARS NM_005548:c.1471_1472insA EXON12 Unknown significance rs773474699 This variant is a VUS because it does not have enough information. 0 10406 0 0 11576 0 0 8652 0 0 6614 0 1 66738 1.4984e-05 0 908 0 0 16510 0 1 121404 8.23696e-06 390657 chr16:75663396:C>A KARS NM_005548:p.Val490Phe NM_005548:c.1468G>T EXON12 Unknown significance rs764493463 This variant is a VUS because it does not have enough information. 0.935 N 0.0 D 0.726;0.925 P 0 D 1 D;D;D 5.81 C 0 10406 0 0 11576 0 0 8652 0 0 6614 0 0 66732 0 0 908 0 1 16510 6.05694e-05 1 121398 8.23737e-06 390658 chr16:75663397:A>C KARS NM_005548:p.Phe489Leu NM_005548:c.1467T>G EXON12 Unknown significance rs751957482 This variant is a VUS because it does not have enough information. 1.199 C 0.001 D 0.968;0.995 D 0 D 1 D;D;D -0.0169 N 0 10406 0 0 11576 0 0 8652 0 0 6614 0 0 66734 0 0 908 0 1 16510 6.05694e-05 1 121400 8.23723e-06 390659 chr16:75663400:C>A KARS NM_005548:p.Leu488Leu NM_005548:c.1464G>T EXON12 Unknown significance rs200649943 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 390660 chr16:75663400:C>G KARS NM_005548:p.Leu488Leu NM_005548:c.1464G>C EXON12 Unknown significance rs200649943 This variant is a VUS because it does not have enough information. 0 10406 0 0 11576 0 0 8652 0 0 6614 0 0 66734 0 0 908 0 1 16510 6.05694e-05 1 121400 8.23723e-06 390661 chr16:75663400:C>T KARS NM_005548:p.Leu488Leu NM_005548:c.1464G>A EXON12 Unknown significance rs200649943 This variant is a VUS because it does not have enough information. 0 10406 0 0 11576 0 0 8652 0 0 6614 0 1 66734 1.49849e-05 0 908 0 0 16510 0 1 121400 8.23723e-06 390662 chr16:75663416:G>C KARS NM_005548:p.Thr483Ser NM_005548:c.1448C>G EXON12 Unknown significance rs200645820 This variant is a VUS because it does not have enough information. 1.048 C 0.1;0.112 T 0.046;0.879 B;P 0 D 1 D;D;D 5.81 C 1 8600 0.000116279 0 4396 0 1 12996 7.69468e-05 1 10392 9.62279e-05 0 11576 0 0 8650 0 0 6614 0 10 66720 0.00014988 1 908 0.00110132 0 16510 0 12 121370 9.88712e-05 390663 chr16:75663422:C>- KARS NM_005548:c.1442delG EXON12 Unknown significance rs749416890 This variant is a VUS because it does not have enough information. 1 10388 9.62649e-05 0 11574 0 0 8650 0 0 6614 0 0 66712 0 0 908 0 0 16510 0 1 121356 8.24022e-06 390664 chr16:75663426:C>G KARS NM_005548:p.Glu480Gln NM_005548:c.1438G>C EXON12 Unknown significance rs376538590 This variant is a VUS because it does not have enough information. 0.059 N 0.046;0.037 D 0.001 B 0.016306 N 0.956569 D;N;N 1.07 C 0 8600 0 2 4396 0.000454959 2 12996 0.000153894 6 10390 0.000577478 0 11570 0 0 8648 0 0 6614 0 0 66698 0 0 908 0 0 16510 0 6 121338 4.94486e-05 390665 chr16:75663429:T>C KARS NM_005548:p.Lys479Glu NM_005548:c.1435A>G EXON12 Unknown significance rs780046389 This variant is a VUS because it does not have enough information. 1.061 C 0.424;0.501 T 0.0 B 0.000405 D 0.761809 D;N;N 5.81 C 0 10384 0 0 11570 0 1 8646 0.00011566 0 6614 0 0 66694 0 0 908 0 0 16508 0 1 121324 8.24239e-06 390666 chr16:75663430:->AG KARS NM_005548:c.1434_1435insCT EXON12 Unknown significance rs771005768 This variant is a VUS because it does not have enough information. 0 10384 0 0 11570 0 0 8646 0 0 6614 0 1 66694 1.49939e-05 0 908 0 0 16508 0 1 121324 8.24239e-06 390667 chr16:75663430:A>G KARS NM_005548:p.Ser478Ser NM_005548:c.1434T>C EXON12 Unknown significance rs148422506 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 0 10384 0 0 11570 0 0 8646 0 0 6614 0 1 66690 1.49948e-05 0 908 0 0 16508 0 1 121320 8.24266e-06 390668 chr16:75663431:G>A KARS NM_005548:p.Ser478Phe NM_005548:c.1433C>T EXON12 Unknown significance rs768628296 This variant is a VUS because it does not have enough information. 0.138 N 0.001 D 0.087;0.359 B 0.000634 D 1 D;D;D 4.85 C 0 10384 0 0 11570 0 0 8646 0 0 6614 0 1 66680 1.4997e-05 0 908 0 0 16508 0 1 121310 8.24334e-06 390669 chr16:75663434:C>T KARS NM_005548:p.Arg477His NM_005548:c.1430G>A EXON12 Unknown significance rs778748895 This variant is a VUS because it does not have enough information. 0.935 N 0.0 D 0.997;1.0 D 0 D 1 D;D;D 5.81 C 0 10374 0 0 11570 0 0 8646 0 0 6612 0 1 66678 1.49975e-05 0 908 0 0 16506 0 1 121294 8.24443e-06 390670 chr16:75663435:G>A KARS NM_005548:p.Arg477Cys NM_005548:c.1429C>T EXON12 Unknown significance rs747912168 This variant is a VUS because it does not have enough information. 1.048 C 0.0 D 0.565;0.904 P 0 D 1 D;D;D 5.81 C 0 10370 0 1 11570 8.64304e-05 0 8646 0 0 6612 0 0 66676 0 0 908 0 0 16508 0 1 121290 8.2447e-06 390671 chr16:75663439:C>A KARS NM_005548:p.Arg475Ser NM_005548:c.1425G>T EXON12 Unknown significance rs771195611 This variant is a VUS because it does not have enough information. 0.935 N 0.02;0.018 D 0.996;1.0 D 0 D 1 D;D;D 5.81 C 0 10364 0 0 11568 0 0 8638 0 0 6612 0 1 66666 1.50002e-05 0 908 0 0 16508 0 1 121264 8.24647e-06 390672 chr16:75663442:A>G KARS NM_005548:c.1425-3T>C INTRON11 Unknown significance rs776781414 This variant is a VUS because it does not have enough information. 0 10354 0 0 11564 0 0 8632 0 0 6612 0 0 66654 0 1 908 0.00110132 0 16504 0 1 121228 8.24892e-06 390673 chr16:75663443:G>C KARS NM_005548:c.1425-4C>G INTRON11 Unknown significance rs369753718 This variant is a VUS because it does not have enough information. 0 8600 0 2 4396 0.000454959 2 12996 0.000153894 2 10354 0.000193162 0 11564 0 0 8634 0 0 6612 0 0 66650 0 0 908 0 0 16504 0 2 121226 1.64981e-05 390674 chr16:75663444:G>A KARS NM_005548:c.1425-5C>T INTRON11 Unknown significance rs769694206 This variant is a VUS because it does not have enough information. 0 10354 0 0 11564 0 0 8634 0 0 6612 0 0 66648 0 1 908 0.00110132 0 16504 0 1 121224 8.24919e-06 390675 chr16:75663449:G>A KARS NM_005548:c.1425-10C>T INTRON11 Unknown significance rs767861629 This variant is a VUS because it does not have enough information. 0 10336 0 0 11562 0 0 8626 0 0 6610 0 3 66622 4.50302e-05 0 906 0 0 16500 0 3 121162 2.47602e-05 390676 chr16:75663452:G>A KARS NM_005548:c.1425-13C>T INTRON11 Unknown significance rs202115505 This variant is a VUS because it does not have enough information. 1 8600 0.000116279 0 4396 0 1 12996 7.69468e-05 0 10336 0 0 11562 0 0 8616 0 1 6610 0.000151286 4 66608 6.00528e-05 0 904 0 0 16500 0 5 121136 4.12759e-05 390677 chr16:75663460:A>T KARS NM_005548:c.1425-21T>A INTRON11 Unknown significance rs376806083 This variant is a VUS because it does not have enough information. 1 8600 0.000116279 0 4396 0 1 12996 7.69468e-05 390678 chr16:75663461:G>A KARS NM_005548:c.1425-22C>T INTRON11 Unknown significance rs764691719 This variant is a VUS because it does not have enough information. 0 10294 0 0 11562 0 1 8610 0.000116144 0 6608 0 0 66576 0 0 904 0 0 16500 0 1 121054 8.26078e-06 390679 chr16:75663462:G>A KARS NM_005548:c.1425-23C>T INTRON11 Unknown significance rs752011614 This variant is a VUS because it does not have enough information. 0 10278 0 0 11562 0 0 8610 0 0 6608 0 0 66570 0 0 904 0 1 16500 6.06061e-05 1 121032 8.26228e-06 390680 chr16:75663463:A>C KARS NM_005548:c.1425-24T>G INTRON11 Unknown significance rs762245486 This variant is a VUS because it does not have enough information. 1 10272 9.7352e-05 0 11562 0 0 8608 0 0 6608 0 0 66566 0 0 904 0 0 16500 0 1 121020 8.2631e-06 390681 chr16:75663464:G>A KARS NM_005548:c.1425-25C>T INTRON11 Unknown significance rs767310925 This variant is a VUS because it does not have enough information. 0 10258 0 0 11562 0 0 8610 0 0 6608 0 0 66566 0 0 904 0 2 16500 0.000121212 2 121008 1.65278e-05 390682 chr16:75663465:G>A KARS NM_005548:c.1425-26C>T INTRON11 Unknown significance rs749977799 This variant is a VUS because it does not have enough information. 0 10248 0 0 11562 0 0 8608 0 0 6608 0 0 66556 0 0 904 0 1 16500 6.06061e-05 1 120986 8.26542e-06 390683 chr16:75663465:G>T KARS NM_005548:c.1425-26C>A INTRON11 Unknown significance rs749977799 This variant is a VUS because it does not have enough information. 0 10248 0 0 11562 0 0 8608 0 0 6608 0 0 66556 0 0 904 0 2 16500 0.000121212 2 120986 1.65308e-05 390684 chr16:75663466:C>G KARS NM_005548:c.1425-27G>C INTRON11 Unknown significance rs765865252 This variant is a VUS because it does not have enough information. 0 10248 0 0 11562 0 0 8608 0 0 6608 0 1 66558 1.50245e-05 0 904 0 0 16500 0 1 120988 8.26528e-06 390685 chr16:75663468:G>A KARS NM_005548:c.1425-29C>T INTRON11 Unknown significance rs376606066 This variant is a VUS because it does not have enough information. 0 10236 0 0 11558 0 2 8606 0.000232396 0 6606 0 0 66540 0 1 904 0.00110619 0 16500 0 3 120950 2.48036e-05 390686 chr16:75663470:A>G KARS NM_005548:c.1425-31T>C INTRON11 Unknown significance rs185621048 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 0 10230 0 25 11558 0.002163 0 8602 0 0 6606 0 0 66550 0 0 904 0 0 16500 0 25 120950 0.000206697 390687 chr16:75663472:A>G KARS NM_005548:c.1425-33T>C INTRON11 Unknown significance rs535440639 This variant is a VUS because it does not have enough information. 390688 chr16:75663477:G>A KARS NM_005548:c.1425-38C>T INTRON11 Unknown significance rs200364315 This variant is a VUS because it does not have enough information. 0 10098 0 1 11548 8.65951e-05 0 8590 0 0 6602 0 0 66464 0 0 904 0 0 16484 0 1 120690 8.28569e-06 390689 chr16:75663479:C>A KARS NM_005548:c.1425-40G>T INTRON11 Unknown significance rs747955760 This variant is a VUS because it does not have enough information. 0 10098 0 0 11548 0 0 8584 0 0 6602 0 1 66452 1.50485e-05 0 904 0 0 16484 0 1 120672 8.28693e-06 390690 chr16:75663479:C>T KARS NM_005548:c.1425-40G>A INTRON11 Unknown significance rs747955760 This variant is a VUS because it does not have enough information. 0 10098 0 0 11548 0 0 8584 0 0 6602 0 1 66452 1.50485e-05 0 904 0 6 16484 0.000363989 7 120672 5.80085e-05 390691 chr16:75663484:->A KARS NM_005548:c.1425-45_1425-44insT INTRON11 Unknown significance rs756898275 This variant is a VUS because it does not have enough information. 0 9936 0 6 11540 0.000519931 0 8570 0 0 6596 0 19 66344 0.000286386 0 902 0 0 16478 0 25 120366 0.0002077 390692 chr16:75663484:A>G KARS NM_005548:c.1425-45T>C INTRON11 Unknown significance rs781394222 This variant is a VUS because it does not have enough information. 0 9890 0 0 11520 0 0 8562 0 0 6592 0 1 66244 1.50957e-05 0 902 0 0 16472 0 1 120182 8.32071e-06 390693 chr16:75663485:A>G KARS NM_005548:c.1425-46T>C INTRON11 Unknown significance rs746016731 This variant is a VUS because it does not have enough information. 0 9892 0 0 11532 0 0 8562 0 0 6592 0 1 66290 1.50852e-05 0 902 0 0 16472 0 1 120242 8.31656e-06 390694 chr16:75663491:T>C KARS NM_005548:c.1425-52A>G INTRON11 Unknown significance rs770041980 This variant is a VUS because it does not have enough information. 0 9844 0 0 11520 0 0 8544 0 0 6590 0 0 66182 0 0 902 0 1 16472 6.07091e-05 1 120054 8.32959e-06 390695 chr16:75663507:->T KARS NM_005548:c.1425-68_1425-67insA INTRON11 Unknown significance rs528716918 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 1 694 0.0014 1 1008 0.001 0 978 0 3 5008 0.000599042 390696 chr16:75663514:T>C KARS NM_005548:c.1425-75A>G INTRON11 Unknown significance rs756351295 This variant is a VUS because it does not have enough information. 390697 chr16:75663520:C>T KARS NM_005548:c.1425-81G>A INTRON11 Benign rs559236017 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 6 978 0.0061 6 5008 0.00119808 390698 chr16:75663521:G>A KARS NM_005548:c.1425-82C>T INTRON11 Unknown significance rs79612807 This variant is a VUS because it does not have enough information. 4 1322 0.003 0 1006 0 0 694 0 0 1008 0 0 978 0 4 5008 0.000798722 390699 chr16:75663522:G>C KARS NM_005548:c.1425-83C>G INTRON11 Unknown significance rs190496099 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 390700 chr16:75663524:G>C KARS NM_005548:c.1425-85C>G INTRON11 Benign rs193272354 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 9 1322 0.0068 0 1006 0 0 694 0 0 1008 0 0 978 0 9 5008 0.00179712 390701 chr16:75663528:C>T KARS NM_005548:c.1425-89G>A INTRON11 Unknown significance rs11639581 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 390702 chr16:75663530:C>A KARS NM_005548:c.1425-91G>T INTRON11 Unknown significance rs11639582 This variant is a VUS because it does not have enough information. 390703 chr16:75663538:C>A KARS NM_005548:c.1425-99G>T INTRON11 Unknown significance rs777771119 This variant is a VUS because it does not have enough information. 390704 chr16:75663539:G>C KARS NM_005548:c.1425-100C>G INTRON11 Unknown significance rs11649491 This variant is a VUS because it does not have enough information. 390705 chr16:75663544:C>T KARS NM_005548:c.1425-105G>A INTRON11 Unknown significance rs111883921 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 390706 chr16:75663553:A>C KARS NM_005548:c.1425-114T>G INTRON11 Unknown significance rs749346189 This variant is a VUS because it does not have enough information. 390707 chr16:75663557:G>C KARS NM_005548:c.1425-118C>G INTRON11 Unknown significance rs11649494 This variant is a VUS because it does not have enough information. 390708 chr16:75663599:G>A KARS NM_005548:c.1425-160C>T INTRON11 Unknown significance rs559283116 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 390709 chr16:75663629:G>A KARS NM_005548:c.1425-190C>T INTRON11 Unknown significance rs528318978 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 390710 chr16:75663642:C>A KARS NM_005548:c.1425-203G>T INTRON11 Unknown significance rs551372141 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 390711 chr16:75663672:T>A KARS NM_005548:c.1425-233A>T INTRON11 Unknown significance rs571486574 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 390712 chr16:75663675:T>C KARS NM_005548:c.1425-236A>G INTRON11 Unknown significance rs758371017 This variant is a VUS because it does not have enough information. 390713 chr16:75663684:C>A KARS NM_005548:c.1425-245G>T INTRON11 Unknown significance rs779997900 This variant is a VUS because it does not have enough information. 390714 chr16:75663692:C>T KARS NM_005548:c.1425-253G>A INTRON11 Unknown significance rs530715390 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 390715 chr16:75663696:A>G KARS NM_005548:c.1425-257T>C INTRON11 Unknown significance rs550118904 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 1 694 0.0014 2 1008 0.002 0 978 0 3 5008 0.000599042 390716 chr16:75663699:T>C KARS NM_005548:c.1425-260A>G INTRON11 Unknown significance rs566961893 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 390717 chr16:75663710:G>A KARS NM_005548:c.1425-271C>T INTRON11 Unknown significance rs202242920 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 390718 chr16:75663715:A>C KARS NM_005548:c.1425-276T>G INTRON11 Unknown significance rs369148654 This variant is a VUS because it does not have enough information. 390719 chr16:75663811:A>G KARS NM_005548:c.1425-372T>C INTRON11 Unknown significance rs746899280 This variant is a VUS because it does not have enough information. 390720 chr16:75663815:G>A KARS NM_005548:c.1425-376C>T INTRON11 Unknown significance rs553059480 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 390721 chr16:75663818:A>G KARS NM_005548:c.1425-379T>C INTRON11 Unknown significance rs566936407 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 390722 chr16:75663820:A>G KARS NM_005548:c.1425-381T>C INTRON11 Unknown significance rs142572866 This variant is a VUS because it does not have enough information. 0 1322 0 2 1006 0.002 1 694 0.0014 0 1008 0 0 978 0 3 5008 0.000599042 390723 chr16:75663823:G>A KARS NM_005548:c.1425-384C>T INTRON11 Unknown significance rs150918335 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 1 1008 0.001 0 978 0 2 5008 0.000399361 390724 chr16:75663831:G>T KARS NM_005548:c.1425-392C>A INTRON11 Unknown significance rs75260215 This variant is a VUS because it does not have enough information. 390725 chr16:75663835:G>A KARS NM_005548:c.1425-396C>T INTRON11 Unknown significance rs373381941 This variant is a VUS because it does not have enough information. 390726 chr16:75663858:G>T KARS NM_005548:c.1425-419C>A INTRON11 Unknown significance rs575962939 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 390727 chr16:75663864:C>T KARS NM_005548:c.1425-425G>A INTRON11 Unknown significance rs544931568 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 390728 chr16:75663877:C>T KARS NM_005548:c.1425-438G>A INTRON11 Unknown significance rs776481568 This variant is a VUS because it does not have enough information. 390729 chr16:75663910:C>A KARS NM_005548:c.1424+411G>T INTRON11 Unknown significance rs188314760 This variant is a VUS because it does not have enough information. 390730 chr16:75663950:G>A KARS NM_005548:c.1424+371C>T INTRON11 Benign rs78798046 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 117 1322 0.0885 17 1006 0.0169 16 694 0.0231 39 1008 0.0387 73 978 0.0746 262 5008 0.0523163 390731 chr16:75663967:G>C KARS NM_005548:c.1424+354C>G INTRON11 Unknown significance rs140846147 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 390732 chr16:75663978:G>T KARS NM_005548:c.1424+343C>A INTRON11 Unknown significance rs577743345 This variant is a VUS because it does not have enough information. 390733 chr16:75664023:T>C KARS NM_005548:c.1424+298A>G INTRON11 Unknown significance rs540352227 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 390734 chr16:75664028:T>C KARS NM_005548:c.1424+293A>G INTRON11 Unknown significance rs560673558 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 390735 chr16:75664068:G>C KARS NM_005548:c.1424+253C>G INTRON11 Benign rs35903075 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 5 1322 0.0038 65 1006 0.0646 37 694 0.0533 0 1008 0 13 978 0.0133 120 5008 0.0239617 390736 chr16:75664075:A>G KARS NM_005548:c.1424+246T>C INTRON11 Benign rs144870709 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 31 1322 0.0234 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 32 5008 0.00638978 390737 chr16:75664115:G>A KARS NM_005548:c.1424+206C>T INTRON11 Unknown significance rs181082151 This variant is a VUS because it does not have enough information. 390738 chr16:75664117:A>G KARS NM_005548:c.1424+204T>C INTRON11 Unknown significance rs772886092 This variant is a VUS because it does not have enough information. 390739 chr16:75664128:T>C KARS NM_005548:c.1424+193A>G INTRON11 Unknown significance rs564939188 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 390740 chr16:75664141:C>T KARS NM_005548:c.1424+180G>A INTRON11 Unknown significance rs530704230 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 390741 chr16:75664161:C>T KARS NM_005548:c.1424+160G>A INTRON11 Unknown significance rs550505818 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 390742 chr16:75664167:C>A KARS NM_005548:c.1424+154G>T INTRON11 Unknown significance rs560523542 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 390743 chr16:75664178:G>A KARS NM_005548:c.1424+143C>T INTRON11 Unknown significance rs372609656 This variant is a VUS because it does not have enough information. 390744 chr16:75664189:G>T KARS NM_005548:c.1424+132C>A INTRON11 Benign rs529675239 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 5 1008 0.005 0 978 0 5 5008 0.000998403 390745 chr16:75664198:G>A KARS NM_005548:c.1424+123C>T INTRON11 Unknown significance rs546293088 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 390746 chr16:75664211:A>C KARS NM_005548:c.1424+110T>G INTRON11 Unknown significance rs762580138 This variant is a VUS because it does not have enough information. 390747 chr16:75664217:C>T KARS NM_005548:c.1424+104G>A INTRON11 Unknown significance rs765935263 This variant is a VUS because it does not have enough information. 390748 chr16:75664230:C>T KARS NM_005548:c.1424+91G>A INTRON11 Unknown significance rs560330541 This variant is a VUS because it does not have enough information. 390749 chr16:75664272:C>T KARS NM_005548:c.1424+49G>A INTRON11 Benign rs115912670 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 0 8600 0 54 4396 0.0122839 54 12996 0.00415512 23 1322 0.0174 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 24 5008 0.00479233 114 9346 0.0121977 2 10470 0.000191022 0 7196 0 0 6106 0 10 58678 0.000170422 2 842 0.0023753 0 14766 0 128 107404 0.00119176 390750 chr16:75664273:C>T KARS NM_005548:c.1424+48G>A INTRON11 Unknown significance rs146765953 This variant is a VUS because it does not have enough information. 390751 chr16:75664274:A>C KARS NM_005548:c.1424+47T>G INTRON11 Unknown significance rs749356793 This variant is a VUS because it does not have enough information. 0 9380 0 0 10508 0 0 7256 0 0 6154 0 1 58952 1.6963e-05 0 840 0 0 14808 0 1 107898 9.26801e-06 390752 chr16:75664287:G>A KARS NM_005548:c.1424+34C>T INTRON11 Unknown significance rs199644963 This variant is a VUS because it does not have enough information. 0 8600 0 11 4396 0.00250227 11 12996 0.000846414 5 1322 0.0038 0 1006 0 0 694 0 0 1008 0 0 978 0 5 5008 0.000998403 25 9466 0.00264103 2 10598 0.000188715 0 7360 0 0 6188 0 0 59536 0 0 846 0 0 14924 0 27 108918 0.000247893 390753 chr16:75664291:T>C KARS NM_005548:c.1424+30A>G INTRON11 Unknown significance rs371492804 This variant is a VUS because it does not have enough information. 0 9516 0 0 10708 0 0 7486 0 0 6230 0 1 60092 1.66412e-05 0 846 0 0 15006 0 1 109884 9.10051e-06 390754 chr16:75664291:T>G KARS NM_005548:c.1424+30A>C INTRON11 Unknown significance rs371492804 This variant is a VUS because it does not have enough information. 390755 chr16:75664293:A>T KARS NM_005548:c.1424+28T>A INTRON11 Unknown significance rs762274079 This variant is a VUS because it does not have enough information.