Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-96075218-T-G p.Thr498Pro missense NOC3L 1 8056 1.24131E-4 4028 0 NA
10-96093937-G-C p.His800Gln missense NOC3L 2 82524 2.42354E-5 41262 0 3.18431E-5
10-96093938-T-C p.His800Arg missense NOC3L 99 82536 0.00119948 41268 1 8.9172E-4
10-96093940-T-C p.Leu799Leu synonymous NOC3L 3 82594 3.63222E-5 41297 0 2.50572E-5
10-96093942-G-A p.Leu799Leu synonymous NOC3L 1 82660 1.20978E-5 41330 0 3.18492E-5
10-96093946-T-C p.Thr797Thr synonymous NOC3L 3 82762 3.62485E-5 41381 0 8.31698E-6
10-96093951-T-C p.Lys796Glu missense NOC3L 4 82842 4.82847E-5 41421 0 3.1835E-5
10-96093962-G-A p.Thr792Met missense NOC3L 2 82870 2.41342E-5 41435 0 6.62153E-5
10-96093965-A-G p.Phe791Ser missense NOC3L 429 82918 0.00517379 41459 4 0.00906344
10-96093976-C-T p.Ser787Ser synonymous NOC3L 2 82956 2.41092E-5 41478 0 4.95753E-5
10-96093976-CGA-C p.Ser787fs frameshift NOC3L 2 82956 2.41092E-5 41478 0 NA
10-96093979-TTCA-T p.Glu786del disruptive_inframe_deletion NOC3L 2 82990 2.40993E-5 41495 0 NA
10-96093979-T-C p.Glu786Glu synonymous NOC3L 3 82988 3.61498E-5 41494 0 1.59604E-5
10-96094014-G-C p.Leu775Val missense NOC3L 3 82954 3.61646E-5 41477 0 9.65266E-5
10-96094015-C-G p.Gln774His missense NOC3L 1 82952 1.20552E-5 41476 0 5.04541E-4
10-96094017-G-T p.Gln774Lys missense NOC3L 1 82930 1.20584E-5 41465 0 2.49207E-5
10-96094020-T-G p.Asn773His missense NOC3L 2 82914 2.41214E-5 41457 0 2.49476E-5
10-96094027-T-C p.Glu770Glu synonymous NOC3L 5 82838 6.03588E-5 41419 0 1.614E-5
10-96094043-T-C p.Asp765Gly missense NOC3L 1 82640 1.21007E-5 41320 0 NA
10-96094043-TC-T p.Asp765fs frameshift NOC3L 2 82640 2.42014E-5 41320 0 NA
10-96094049-T-C p.Gln763Arg missense NOC3L 1 82540 1.21153E-5 41270 0 NA
10-96094058-T-G p.Lys760Thr missense NOC3L 1 82334 1.21457E-5 41167 0 4.08844E-6
10-96094395-AT-A p.Ile757fs frameshift NOC3L 1 82298 1.2151E-5 41149 0 3.18878E-5
10-96094413-T-C p.Glu751Gly missense NOC3L 344 82554 0.00416697 41277 2 0.00876075
10-96094416-A-G p.Val750Ala missense NOC3L 2 82586 2.42172E-5 41293 0 NA
10-96094422-G-C p.Pro748Arg missense NOC3L 2 82644 2.42002E-5 41322 0 NA
10-96094425-T-C p.Asn747Ser missense NOC3L 530 82668 0.00641119 41334 16 0.0118813
10-96094440-G-C p.Ala742Gly missense NOC3L 2 82776 2.41616E-5 41388 0 NA
10-96094444-T-C p.Met741Val missense NOC3L 5 82794 6.03908E-5 41397 0 9.97656E-5
10-96094447-T-C p.Ser740Gly missense NOC3L 1 82814 1.20753E-5 41407 0 8.31269E-6
10-96094461-A-T p.Leu735His missense NOC3L 1 82830 1.20729E-5 41415 0 8.31103E-6
10-96094462-G-C p.Leu735Val missense NOC3L 1 82824 1.20738E-5 41412 0 NA
10-96094473-G-C p.Ser731Cys missense+splice_region NOC3L 1 82756 1.20837E-5 41378 0 6.25E-4
10-96094473-G-A p.Ser731Phe missense+splice_region NOC3L 2 82756 2.41674E-5 41378 0 9.55962E-5
10-96097537-C-T p.Arg729Gln missense NOC3L 6 83140 7.21674E-5 41570 0 6.37105E-5
10-96097540-C-T p.Ser728Asn missense NOC3L 1 83172 1.20233E-5 41586 0 NA
10-96097554-G-T p.Leu723Leu synonymous NOC3L 5 83222 6.00803E-5 41611 0 9.55475E-5
10-96097565-A-G p.Ser720Pro missense NOC3L 1 83248 1.20123E-5 41624 0 8.26392E-6
10-96097576-G-T p.Pro716His missense NOC3L 2 83242 2.40263E-5 41621 0 7.95836E-6
10-96097578-T-C p.Ala715Ala synonymous NOC3L 1 83234 1.20143E-5 41617 0 8.26542E-6
10-96097586-C-T p.Ala713Thr missense NOC3L 3 83226 3.60464E-5 41613 0 8.26761E-6
10-96097588-A-T p.Ile712Asn missense NOC3L 2 83230 2.40298E-5 41615 0 7.95855E-6
10-96097594-T-C p.His710Arg missense NOC3L 1 83230 1.20149E-5 41615 0 3.1837E-5
10-96097610-G-A p.Gln705* stop_gained NOC3L 1 83198 1.20195E-5 41599 0 3.1839E-5
10-96097622-G-C p.His701Asp missense NOC3L 1 83162 1.20247E-5 41581 0 NA
10-96097630-C-CTCCGCAGAGCATGCAGTTCCCACAGAGCAGTGT p.Asn687_Arg697dup conservative_inframe_insertion NOC3L 2 83098 2.4068E-5 41549 1 NA
10-96098358-C-G c.2091+7G>C splice_region NOC3L 1 81032 1.23408E-5 40516 0 1.65752E-5
10-96098363-A-ACCCGCAGAGCATGCAGTT c.2091+1_2091+2insAACTGCATGCTCTGCGGG splice_donor NOC3L 1 81336 1.22947E-5 40668 0 NA
10-96098366-C-A p.Arg697Leu missense+splice_region NOC3L 1 81486 1.2272E-5 40743 0 NA
10-96098367-G-A p.Arg697Trp missense+splice_region NOC3L 2 81406 2.45682E-5 40703 0 3.18492E-5
10-96098373-C-T p.Ala695Thr missense NOC3L 12923 81146 0.159256 40573 1111 0.213494
10-96098388-G-T p.Leu690Met missense NOC3L 1 82766 1.20823E-5 41383 0 0.00100705
10-96098400-G-C p.Gln686Glu missense NOC3L 1 83238 1.20137E-5 41619 0 NA
10-96098413-C-G p.Glu681Asp missense NOC3L 1 83310 1.20034E-5 41655 0 8.23818E-6
10-96098417-G-C p.Pro680Arg missense NOC3L 1 83318 1.20022E-5 41659 0 NA
10-96098420-T-A p.Glu679Val missense NOC3L 1 83310 1.20034E-5 41655 0 NA
10-96098442-C-T p.Val672Ile missense NOC3L 1 83296 1.20054E-5 41648 0 NA
10-96098444-C-T p.Gly671Glu missense NOC3L 5 83296 6.00269E-5 41648 0 3.18512E-5
10-96098483-T-G p.Lys658Thr missense NOC3L 32 83230 3.84477E-4 41615 0 6.36983E-4
10-96098493-T-A p.Thr655Ser missense+splice_region NOC3L 1216 83118 0.0146298 41559 46 0.0332661
10-96098497-C-A c.1963-4G>T splice_region NOC3L 1 83106 1.20328E-5 41553 0 NA
10-96099489-T-A c.1962+7A>T splice_region NOC3L 4 83312 4.80123E-5 41656 1 NA
10-96099500-A-G p.Met653Thr missense NOC3L 1 83344 1.19985E-5 41672 0 NA
10-96099511-G-A p.Thr649Thr synonymous NOC3L 22 83362 2.63909E-4 41681 0 NA
10-96099526-G-A p.Gly644Gly synonymous NOC3L 1 83386 1.19924E-5 41693 0 1.23801E-4
10-96099556-A-G p.Ala634Ala synonymous NOC3L 1 83406 1.19895E-5 41703 0 NA
10-96099564-T-A p.Thr632Ser missense NOC3L 1 83400 1.19904E-5 41700 0 NA
10-96099572-C-T p.Arg629His missense NOC3L 3 83404 3.59695E-5 41702 0 4.11997E-5
10-96099579-T-C p.Ile627Val missense NOC3L 1 83402 1.19901E-5 41701 0 3.97668E-6
10-96099584-G-T p.Ala625Asp missense NOC3L 1 83404 1.19898E-5 41702 0 3.97674E-6
10-96099584-G-GC p.Ala625fs frameshift NOC3L 1 83404 1.19898E-5 41702 0 NA
10-96099591-C-T p.Ala623Thr missense NOC3L 1 83408 1.19893E-5 41704 0 NA
10-96099593-CGCT-C p.Gln621del disruptive_inframe_deletion NOC3L 1 83412 1.19887E-5 41706 0 NA
10-96099593-C-T p.Arg622Gln missense NOC3L 2 83408 2.39785E-5 41704 0 8.24008E-6
10-96099594-G-C p.Arg622Gly missense NOC3L 1 83408 1.19893E-5 41704 0 3.97678E-6
10-96099600-G-A p.Gln620* stop_gained NOC3L 1 83408 1.19893E-5 41704 0 NA
10-96099618-G-A p.Arg614Cys missense NOC3L 6 83396 7.19459E-5 41698 0 6.25E-4
10-96099625-T-G p.Leu611Leu synonymous NOC3L 2 83400 2.39808E-5 41700 0 NA
10-96099636-C-G p.Asp608His missense NOC3L 1 83406 1.19895E-5 41703 0 NA
10-96099651-C-A p.Val603Leu missense NOC3L 4 83382 4.7972E-5 41691 0 1.95118E-4
10-96099655-C-T p.Glu601Glu synonymous NOC3L 1 83380 1.19933E-5 41690 0 1.19576E-5
10-96099657-C-T p.Glu601Lys missense NOC3L 1 83380 1.19933E-5 41690 0 NA
10-96099659-A-G p.Val600Ala missense NOC3L 1 83380 1.19933E-5 41690 0 3.58783E-5
10-96099668-T-C p.Asn597Ser missense NOC3L 2 83362 2.39917E-5 41681 0 6.36821E-5
10-96099671-G-T p.Thr596Asn missense NOC3L 1 83350 1.19976E-5 41675 0 NA
10-96099674-G-A p.Ala595Val missense NOC3L 48 83338 5.75968E-4 41669 0 0.00503525
10-96099678-C-CTAAAACA c.1781-2_1781-1insTGTTTTA splice_acceptor NOC3L 1 83342 1.19988E-5 41671 0 NA
10-96099684-C-G c.1781-7G>C splice_region NOC3L 1 83312 1.20031E-5 41656 0 3.1837E-5
10-96100025-A-G c.1780+8T>C splice_region NOC3L 5 82820 6.03719E-5 41410 0 6.36983E-5
10-96100036-C-A p.Ala593Ser missense NOC3L 1 83038 1.20427E-5 41519 0 NA
10-96100038-T-G p.His592Pro missense NOC3L 1 83052 1.20406E-5 41526 0 3.991E-6
10-96100051-G-C p.Leu588Val missense NOC3L 1 83160 1.2025E-5 41580 0 3.18593E-5
10-96100053-G-A p.Thr587Ile missense NOC3L 1 83168 1.20239E-5 41584 0 8.26856E-6
10-96100054-T-G p.Thr587Pro missense NOC3L 1 83174 1.2023E-5 41587 0 8.26651E-6
10-96100064-A-G p.His583His synonymous NOC3L 1 83202 1.20189E-5 41601 0 7.96584E-4
10-96100067-T-C p.Thr582Thr synonymous NOC3L 1 83208 1.20181E-5 41604 0 8.25805E-6
10-96100071-T-G p.Tyr581Ser missense NOC3L 1 83224 1.20158E-5 41612 0 NA
10-96100082-T-C p.Pro577Pro synonymous NOC3L 2 83236 2.40281E-5 41618 0 NA
10-96100094-C-A p.Leu573Leu synonymous NOC3L 2119 83198 0.0254694 41599 37 0.0229833
10-96100102-CACCTTTGAAATGACAACAAACACCAATTAGGTATGTTATAGCATTCAAAGGTAAGGCAAACAAAACTTGATTAAGAAAATATCAT-C p.Asp571fs frameshift NOC3L 8 83244 9.6103E-5 41622 2 NA
10-96100104-C-T p.Gly570Asp missense+splice_region NOC3L 1 83240 1.20135E-5 41620 0 NA
10-96100105-C-T c.1709-1G>A splice_acceptor NOC3L 1 83244 1.20129E-5 41622 0 NA
10-96100184-T-C c.1708+6A>G splice_region NOC3L 1 83134 1.20288E-5 41567 0 NA
10-96100209-A-G p.Phe563Phe synonymous NOC3L 1 82958 1.20543E-5 41479 0 NA
10-96100246-C-A p.Ser551Ile missense NOC3L 1 82122 1.2177E-5 41061 0 3.50508E-5
10-96100254-C-CT c.1645-2_1645-1insA splice_acceptor NOC3L 2 81472 2.45483E-5 40736 0 NA
10-96100257-TA-T c.1645-5delT splice_region NOC3L 10389 77712 0.133686 38856 848 0.227559
10-96100257-T-TA c.1645-5_1645-4insT splice_region NOC3L 247 79936 0.00308997 39968 2 0.0120959
10-96100257-T-A c.1645-4A>T splice_region NOC3L 6 80486 7.45471E-5 40243 0 0.0011242
10-96101427-T-TA c.1644+2_1644+3insT splice_donor NOC3L 1 78874 1.26784E-5 39437 0 1.19849E-5
10-96101442-G-A p.Leu544Leu synonymous NOC3L 1 80408 1.24366E-5 40204 0 NA
10-96101448-A-T p.His542Gln missense NOC3L 1 80754 1.23833E-5 40377 0 NA
10-96101450-G-A p.His542Tyr missense NOC3L 2 80804 2.47513E-5 40402 0 8.98747E-6
10-96101471-C-CA p.Asp535fs frameshift NOC3L 2 81096 2.46621E-5 40548 0 8.61045E-6
10-96101471-C-T p.Asp535Asn missense NOC3L 1 81096 1.23311E-5 40548 0 3.19366E-5
10-96101480-C-G p.Glu532Gln missense NOC3L 1 81060 1.23365E-5 40530 0 NA
10-96101492-G-A p.Leu528Phe missense NOC3L 4 80910 4.94376E-5 40455 0 NA
10-96101502-C-T p.Lys524Lys splice_region+synonymous NOC3L 1 80342 1.24468E-5 40171 0 6.37714E-5
10-96104167-C-T c.1571+5G>A splice_region NOC3L 1 83178 1.20224E-5 41589 0 NA
10-96104173-T-C p.Lys524Glu missense+splice_region NOC3L 1 83198 1.20195E-5 41599 0 3.18512E-5
10-96104206-G-A p.Pro513Ser missense NOC3L 3 83262 3.60308E-5 41631 0 1.99037E-5
10-96104211-C-T p.Arg511Lys missense NOC3L 3 83242 3.60395E-5 41621 0 1.64981E-5
10-96104220-T-G p.Lys508Thr missense NOC3L 2 83262 2.40206E-5 41631 0 8.25178E-6
10-96104241-G-A p.Thr501Ile missense NOC3L 2 83238 2.40275E-5 41619 0 NA
10-96104270-G-A p.His491His splice_region+synonymous NOC3L 2 83116 2.40628E-5 41558 0 NA
10-96104271-T-C p.His491Arg missense+splice_region NOC3L 4 83106 4.81313E-5 41553 0 NA
10-96104272-G-GCAGTTTAAGTTTTTTCTCAGTACTCT c.1471-1_1471insAGAGTACTGAGAAAAAACTTAAACTG splice_acceptor NOC3L 1 83090 1.20351E-5 41545 0 NA
10-96104273-C-CAGTTTAAGTTTTTTCTCAGTACTCTCTGAAGCT c.1471-2_1471-1insAGCTTCAGAGAGTACTGAGAAAAAACTTAAACT splice_acceptor NOC3L 1 83086 1.20357E-5 41543 0 NA
10-96104277-C-T c.1471-5G>A splice_region NOC3L 2 83042 2.40842E-5 41521 0 4.46229E-4
10-96104620-T-A p.Lys487Ile missense NOC3L 2 82796 2.41558E-5 41398 0 4.18113E-6
10-96104624-T-C p.Lys486Glu missense NOC3L 2 82836 2.41441E-5 41418 0 9.55292E-5
10-96104630-T-C p.Thr484Ala missense NOC3L 2 82882 2.41307E-5 41441 0 3.1839E-5
10-96104638-G-A p.Ser481Leu missense NOC3L 1 82900 1.20627E-5 41450 0 4.04361E-6
10-96104654-G-A p.Arg476* stop_gained NOC3L 2 82884 2.41301E-5 41442 0 8.26419E-6
10-96104662-C-T p.Arg473Gln missense NOC3L 1 82846 1.20706E-5 41423 0 9.09286E-5
10-96104663-G-A p.Arg473* stop_gained NOC3L 15 82844 1.81063E-4 41422 0 7.24492E-5
10-96104664-CT-TG p.Glu472Ala missense NOC3L 1 82848 1.20703E-5 41424 0 NA
10-96104665-T-G p.Glu472Ala missense NOC3L 10818 82538 0.131067 41269 816 0.161032
10-96106175-G-A c.1389+7C>T splice_region NOC3L 2 81654 2.44936E-5 40827 0 1.67258E-5
10-96106185-T-C p.Arg462Arg synonymous NOC3L 1 81716 1.22375E-5 40858 0 NA
10-96106210-CTCTTT-C p.Arg454fs frameshift NOC3L 1 82026 1.21913E-5 41013 0 8.39447E-6
10-96106221-G-C p.Phe450Leu missense NOC3L 2 81936 2.44093E-5 40968 0 2.52815E-5
10-96106223-A-C p.Phe450Val missense NOC3L 2 81960 2.44021E-5 40980 0 1.9916E-5
10-96106229-T-G p.Met448Leu missense NOC3L 1 81850 1.22175E-5 40925 0 NA
10-96106240-G-C p.Pro444Arg missense NOC3L 7450 81374 0.0915526 40687 458 0.119818
10-96106244-T-C p.Lys443Glu missense NOC3L 2 81716 2.4475E-5 40858 0 3.18735E-5
10-96106251-GTCTTCTGTA-G p.Thr438_Asp440del disruptive_inframe_deletion NOC3L 1 81654 1.22468E-5 40827 0 NA
10-96106277-C-A p.Val432Leu missense NOC3L 2 80720 2.4777E-5 40360 0 1.27885E-4
10-96106287-T-A p.Arg428Ser missense NOC3L 1 80298 1.24536E-5 40149 0 NA
10-96106292-G-A p.Leu427Leu synonymous NOC3L 1 79946 1.25084E-5 39973 0 NA
10-96106315-T-TCTGGCCTAACTTCGTAATTTCTGCCCTTCACAAAACC c.1258-3_1258-2insGGTTTTGTGAAGGGCAGAAATTACGAAGTTAGGCCAG splice_region NOC3L 4 79142 5.05421E-5 39571 2 NA
10-96109006-C-A c.1257+1G>T splice_donor NOC3L 3 82338 3.64352E-5 41169 0 3.20657E-5
10-96109013-C-T p.Arg417Arg synonymous NOC3L 1 82540 1.21153E-5 41270 0 NA
10-96109021-C-T p.Glu415Lys missense NOC3L 93 82648 0.00112525 41324 0 0.00257086
10-96109021-C-G p.Glu415Gln missense NOC3L 1 82650 1.20992E-5 41325 0 3.21357E-5
10-96109022-G-A p.Tyr414Tyr synonymous NOC3L 5 82612 6.05239E-5 41306 0 4.14188E-5
10-96109027-T-A p.Asn413Tyr missense NOC3L 1 82738 1.20863E-5 41369 0 NA
10-96109039-CA-C p.Phe408fs frameshift NOC3L 3 82896 3.61899E-5 41448 0 4.53272E-6
10-96109076-T-C p.Gln396Gln synonymous NOC3L 4 82938 4.82288E-5 41469 0 6.60437E-5
10-96109087-T-C p.Lys393Glu missense NOC3L 1 83008 1.2047E-5 41504 0 NA
10-96109114-CT-C p.Ala384fs frameshift NOC3L 3 82886 3.61943E-5 41443 0 4.601E-6
10-96109136-C-CAATTTTGACATGTCATTCA c.1129-2_1129-1insTGAATGACATGTCAAAATT splice_acceptor NOC3L 2 82696 2.4185E-5 41348 0 NA
10-96109136-C-CAATTTTGACATGTCATTCATGAGAGGGACAATCAATACGA c.1129-2_1129-1insTCGTATTGATTGTCCCTCTCATGAATGACATGTCAAAATT splice_acceptor NOC3L 2 82694 2.41856E-5 41347 1 NA
10-96109865-C-T c.1128+5G>A splice_region NOC3L 1 83338 1.19993E-5 41669 0 NA
10-96109877-G-A p.Ser374Leu missense NOC3L 1 83378 1.19936E-5 41689 0 NA
10-96109881-T-A p.Met373Leu missense NOC3L 1 83388 1.19921E-5 41694 0 3.97747E-6
10-96109888-C-T p.Met370Ile missense NOC3L 194 83386 0.00232653 41693 0 0.004375
10-96109897-G-A p.Val367Val synonymous NOC3L 1 83398 1.19907E-5 41699 0 8.23859E-6
10-96109901-A-G p.Ile366Thr missense NOC3L 2 83402 2.39802E-5 41701 0 NA
10-96109908-C-T p.Val364Ile missense NOC3L 2 83406 2.39791E-5 41703 0 3.29495E-5
10-96109909-G-A p.Ile363Ile synonymous NOC3L 3 83412 3.5966E-5 41706 0 5.96516E-5
10-96109912-G-A p.Ile362Ile synonymous NOC3L 1 83414 1.19884E-5 41707 0 3.97681E-6
10-96109914-T-C p.Ile362Val missense NOC3L 1 83412 1.19887E-5 41706 0 NA
10-96109916-T-A p.Asn361Ile missense NOC3L 3 83412 3.5966E-5 41706 0 1.64737E-5
10-96109926-A-C p.Phe358Val missense NOC3L 1 83416 1.19881E-5 41708 0 NA
10-96109939-T-C p.Leu353Leu synonymous NOC3L 6 83422 7.19235E-5 41711 0 1.40021E-4
10-96109941-G-A p.Leu353Leu synonymous NOC3L 1 83422 1.19872E-5 41711 0 8.23655E-6
10-96109972-A-G p.Ala342Ala synonymous NOC3L 1 83424 1.1987E-5 41712 0 1.64728E-5
10-96109974-C-T p.Ala342Thr missense NOC3L 6 83420 7.19252E-5 41710 0 9.55292E-5
10-96109975-G-A p.Val341Val synonymous NOC3L 83 83422 9.94941E-4 41711 0 0.00127429
10-96109977-C-T p.Val341Ile missense NOC3L 1 83422 1.19872E-5 41711 0 1.64728E-5
10-96110014-A-G p.Asn328Asn synonymous NOC3L 88 83388 0.00105531 41694 0 6.25E-4
10-96110026-CA-C p.Leu324fs frameshift NOC3L 123 83354 0.00147563 41677 0 0.00100705
10-96112062-T-C c.952+5A>G splice_region NOC3L 1 82956 1.20546E-5 41478 0 4.02966E-6
10-96112076-T-C p.Met315Val missense NOC3L 1 83132 1.20291E-5 41566 0 NA
10-96112078-T-C p.Gln314Arg missense NOC3L 1 83146 1.2027E-5 41573 0 4.00676E-6
10-96112083-C-T p.Leu312Leu synonymous NOC3L 42 83172 5.04978E-4 41586 0 1.76125E-4
10-96112085-G-T p.Leu312Met missense NOC3L 1 83194 1.20201E-5 41597 0 3.99511E-6
10-96112092-C-G p.Leu309Phe missense NOC3L 1 83214 1.20172E-5 41607 0 NA
10-96112119-G-A p.Gly300Gly synonymous NOC3L 1 83244 1.20129E-5 41622 0 NA
10-96112133-C-T p.Glu296Lys missense NOC3L 6 83196 7.21189E-5 41598 0 5.04032E-4
10-96112135-C-G p.Arg295Thr missense NOC3L 3 83176 3.60681E-5 41588 0 3.98769E-6
10-96112151-C-A p.Glu290* stop_gained NOC3L 1 83028 1.20441E-5 41514 0 NA
10-96112157-G-C p.Arg288Gly missense NOC3L 15 82910 1.80919E-4 41455 0 1.05711E-4
10-96112157-G-A p.Arg288* stop_gained NOC3L 3 82910 3.61838E-5 41455 0 3.18532E-5
10-96112160-T-A p.Thr287Ser missense+splice_region NOC3L 2 82832 2.41453E-5 41416 0 6.36943E-5
10-96112646-GC-AA c.858+6_858+7delGCinsTT splice_region NOC3L 3 82974 3.61559E-5 41487 0 NA
10-96112649-T-C c.858+4A>G splice_region NOC3L 1 83060 1.20395E-5 41530 0 8.29531E-6
10-96112650-T-TATG c.858+2_858+3insCAT splice_donor NOC3L 2 83074 2.40749E-5 41537 0 8.02015E-6
10-96112676-T-C p.Thr279Ala missense NOC3L 2 83246 2.40252E-5 41623 0 7.98065E-6
10-96112680-G-A p.Pro277Pro synonymous NOC3L 1 83254 1.20114E-5 41627 0 8.25764E-6
10-96112682-G-A p.Pro277Ser missense NOC3L 1 83270 1.20091E-5 41635 0 NA
10-96112706-T-C p.Ile269Val missense NOC3L 2 83296 2.40108E-5 41648 0 3.1841E-5
10-96112725-C-G p.Leu262Leu synonymous NOC3L 3 83300 3.60144E-5 41650 0 3.1839E-5
10-96112729-GA-G p.Ser261fs frameshift NOC3L 1 83298 1.20051E-5 41649 0 NA
10-96112737-T-C p.Val258Val synonymous NOC3L 1 83290 1.20062E-5 41645 0 8.25082E-6
10-96112739-C-A p.Val258Leu missense NOC3L 1 83298 1.20051E-5 41649 0 3.58118E-5
10-96112753-G-C p.Thr253Ser missense NOC3L 1 83280 1.20077E-5 41640 0 NA
10-96112763-C-T p.Val250Met missense NOC3L 1 83286 1.20068E-5 41643 0 1.65049E-5
10-96112771-T-C p.Asp247Gly missense NOC3L 5 83272 6.00442E-5 41636 0 4.12848E-5
10-96112774-T-C p.Gln246Arg missense NOC3L 2 83274 2.40171E-5 41637 0 1.995E-5
10-96112783-A-G p.Leu243Ser missense NOC3L 1 83244 1.20129E-5 41622 0 1.65388E-5
10-96112787-T-C p.Met242Val missense NOC3L 4 83228 4.80607E-5 41614 0 3.18674E-5
10-96112789-G-C p.Ser241Cys missense NOC3L 4 83214 4.80688E-5 41607 0 1.59408E-4
10-96112792-C-A p.Arg240Leu missense NOC3L 11 83208 1.32199E-4 41604 0 6.3743E-5
10-96112793-G-A p.Arg240Cys missense NOC3L 5 83204 6.00933E-5 41602 0 3.18735E-5
10-96112793-G-GT p.Arg240fs frameshift NOC3L 1 83204 1.20187E-5 41602 0 NA
10-96112797-T-C p.Glu238Glu synonymous NOC3L 2 83192 2.40408E-5 41596 0 8.34453E-6
10-96112799-C-G p.Glu238Gln missense NOC3L 2 83162 2.40494E-5 41581 0 6.37633E-5
10-96112805-AT-A p.Lys235fs frameshift NOC3L 2 83072 2.40755E-5 41536 0 NA
10-96112816-T-C c.697-2A>G splice_acceptor NOC3L 1 82910 1.20613E-5 41455 0 3.18492E-5
10-96114731-G-T p.Pro229Thr missense NOC3L 1 83094 1.20346E-5 41547 0 6.36943E-5
10-96114759-T-C p.Ala219Ala synonymous NOC3L 13 83132 1.56378E-4 41566 0 3.1835E-4
10-96114780-C-G p.Gln212His missense NOC3L 3 83168 3.60716E-5 41584 0 NA
10-96114785-A-G p.Leu211Leu synonymous NOC3L 1 83152 1.20262E-5 41576 0 6.25782E-4
10-96114793-T-C p.Lys208Arg missense NOC3L 5 83150 6.01323E-5 41575 0 2.47227E-5
10-96114804-C-T p.Leu204Leu synonymous NOC3L 17 83132 2.04494E-4 41566 0 1.48331E-4
10-96114809-G-T p.His203Asn missense NOC3L 1 83138 1.20282E-5 41569 0 NA
10-96114825-C-T p.Glu197Glu synonymous NOC3L 1 83128 1.20296E-5 41564 0 3.1841E-5
10-96114835-G-A p.Pro194Leu missense NOC3L 10732 82748 0.129695 41374 775 0.160065
10-96114845-T-C p.Ile191Val missense NOC3L 1 83054 1.20404E-5 41527 0 1.39758E-4
10-96114857-C-T c.566-7G>A splice_region NOC3L 2 82978 2.41028E-5 41489 1 NA
10-96116302-T-C p.Glu185Glu synonymous NOC3L 1 81392 1.22862E-5 40696 0 NA
10-96116308-CTCT-C p.Glu183del disruptive_inframe_deletion NOC3L 3 81508 3.68062E-5 40754 0 5.03525E-4
10-96116310-C-T p.Glu183Lys missense NOC3L 1 81506 1.2269E-5 40753 0 8.29174E-6
10-96116310-CTT-C p.Glu182fs frameshift NOC3L 1 81506 1.2269E-5 40753 0 8.29174E-5
10-96116310-CTTCTT-C p.Glu181fs frameshift NOC3L 1 81506 1.2269E-5 40753 0 NA
10-96116330-T-C p.Asp176Gly missense NOC3L 5 81342 6.14689E-5 40671 0 6.80534E-5
10-96116335-GT-G p.Asn174fs frameshift NOC3L 1 81256 1.23068E-5 40628 0 NA
10-96116340-T-TA p.Ser173fs frameshift NOC3L 2 81092 2.46633E-5 40546 0 NA
10-96116345-G-A p.Thr171Ile missense NOC3L 2 80976 2.46987E-5 40488 0 3.18552E-5
10-96116937-T-C p.Lys168Glu missense NOC3L 3 81572 3.67773E-5 40786 0 9.09306E-6
10-96116949-G-T p.Gln164Lys missense NOC3L 1 82390 1.21374E-5 41195 0 NA
10-96116953-G-A p.Ile162Ile synonymous NOC3L 3 82474 3.63751E-5 41237 0 3.34085E-5
10-96116958-T-C p.Ile161Val missense NOC3L 528 82486 0.00640109 41243 16 0.0120041
10-96116960-C-A p.Gly160Val missense NOC3L 2 82502 2.42418E-5 41251 0 4.1589E-5
10-96116960-C-T p.Gly160Asp missense NOC3L 1 82502 1.21209E-5 41251 0 NA
10-96116962-A-G p.Ser159Ser synonymous NOC3L 2 82554 2.42266E-5 41277 0 4.54651E-5
10-96116993-A-C p.Leu149Arg missense NOC3L 1 82928 1.20587E-5 41464 0 NA
10-96117003-C-T p.Glu146Lys missense NOC3L 2 83018 2.40912E-5 41509 0 NA
10-96117032-T-A p.Lys136Ile missense NOC3L 2 82964 2.41068E-5 41482 0 NA
10-96117034-T-C p.Glu135Glu synonymous NOC3L 647 82898 0.00780477 41449 21 0.0167856
10-96117037-A-G p.Tyr134Tyr synonymous NOC3L 10 82882 1.20653E-4 41441 0 1.6603E-5
10-96117038-T-C p.Tyr134Cys missense NOC3L 136 82870 0.00164112 41435 1 0.00350274
10-96117044-T-A p.Asp132Val missense NOC3L 1 82812 1.20755E-5 41406 0 3.18471E-5
10-96117047-A-G p.Ile131Thr missense NOC3L 3 82784 3.62389E-5 41392 0 3.18512E-5
10-96117054-G-A p.Arg129Cys missense NOC3L 1 82722 1.20887E-5 41361 0 6.25E-4
10-96117059-T-C p.His127Arg missense NOC3L 4 82728 4.83512E-5 41364 0 NA
10-96117059-T-G p.His127Pro missense NOC3L 1 82728 1.20878E-5 41364 0 NA
10-96117060-G-A p.His127Tyr missense NOC3L 1 82700 1.20919E-5 41350 0 8.44523E-6
10-96117066-G-A p.Arg125Trp missense NOC3L 15 82506 1.81805E-4 41253 0 7.40589E-4
10-96117066-G-T p.Arg125Arg synonymous NOC3L 1 82508 1.212E-5 41254 0 NA
10-96117067-T-C p.Lys124Lys synonymous NOC3L 1 82546 1.21145E-5 41273 0 NA
10-96117072-T-C p.Lys123Glu missense NOC3L 1 82494 1.21221E-5 41247 0 NA
10-96117074-G-C p.Ala122Gly missense NOC3L 1 82392 1.21371E-5 41196 0 1.72945E-5
10-96117074-G-A p.Ala122Val missense NOC3L 42 82390 5.09771E-4 41195 0 0.00187735
10-96117084-G-C p.Pro119Ala missense NOC3L 169 82202 0.00205591 41101 0 0.00500626
10-96117092-CA-C c.351-5delT splice_region NOC3L 1 81722 1.22366E-5 40861 0 NA
10-96117839-C-G c.350+1G>C splice_donor NOC3L 1 82666 1.20969E-5 41333 0 NA
10-96117853-CTCT-C p.Arg112del conservative_inframe_deletion NOC3L 10 82950 1.20555E-4 41475 0 6.37389E-5
10-96117855-CTT-C p.Asp113fs frameshift NOC3L 2 82968 2.41057E-5 41484 0 3.18512E-5
10-96117856-T-G p.Arg112Arg synonymous NOC3L 165 82972 0.00198862 41486 3 0.0039493
10-96117870-A-G p.Val107Ala missense NOC3L 1 83046 1.20415E-5 41523 0 NA
10-96117871-C-T p.Val107Ile missense NOC3L 2 83068 2.40767E-5 41534 0 6.37186E-5
10-96117876-T-C p.Gln105Arg missense NOC3L 1 83084 1.2036E-5 41542 0 1.27364E-4
10-96117889-T-C p.Lys101Glu missense NOC3L 1 83074 1.20375E-5 41537 0 3.18492E-5
10-96117934-C-T p.Ala86Thr missense NOC3L 1 82790 1.20788E-5 41395 0 NA
10-96117936-T-G p.Glu85Ala missense NOC3L 2 82746 2.41704E-5 41373 0 NA
10-96117938-T-G p.Glu84Asp missense NOC3L 4 82740 4.83442E-5 41370 0 1.66218E-4
10-96117944-T-C p.Glu82Glu synonymous NOC3L 1 82606 1.21057E-5 41303 0 4.04269E-6
10-96117944-TTCC-T p.Glu82del disruptive_inframe_deletion NOC3L 1 82606 1.21057E-5 41303 0 NA
10-96117947-CTCTTCT-C p.Glu80_Glu81del disruptive_inframe_deletion NOC3L 3 82530 3.63504E-5 41265 0 3.18532E-5
10-96117956-CCT-C p.Arg78fs frameshift NOC3L 2 82168 2.43404E-5 41084 0 NA
10-96117964-T-G p.Ile76Leu missense NOC3L 48 81786 5.86897E-4 40893 0 0.00625
10-96117972-C-A p.Gly73Val missense+splice_region NOC3L 2 81348 2.45857E-5 40674 0 1.27437E-4
10-96117973-C-T c.218-1G>A splice_acceptor NOC3L 4 81302 4.91993E-5 40651 0 9.55475E-5
10-96117975-G-GGTCGCTTTTCCTTTGGGTTC c.218-4_218-3insGAACCCAAAGGAAAAGCGAC splice_region NOC3L 1 81146 1.23235E-5 40573 0 NA
10-96117975-G-GGTCGCTT c.218-4_218-3insAAGCGAC splice_region NOC3L 1 81146 1.23235E-5 40573 0 NA
10-96117975-G-GGTCGCTTTTCCTTTGGGTTCTCCAATGGAATGGGT c.218-4_218-3insACCCATTCCATTGGAGAACCCAAAGGAAAAGCGAC splice_region NOC3L 1 81146 1.23235E-5 40573 0 NA
10-96117977-A-T c.218-5T>A splice_region NOC3L 1 80920 1.23579E-5 40460 0 NA
10-96117978-CCA-C c.218-8_218-7delTG splice_region NOC3L 154 73790 0.002087 36895 0 0.119061
10-96117978-C-CCA c.218-7_218-6insTG splice_region NOC3L 119 80814 0.00147252 40407 0 0.00210715
10-96117978-C-CCACA c.218-7_218-6insTGTG splice_region NOC3L 4 80838 4.94817E-5 40419 0 2.55049E-4
10-96117979-C-CTTTGGGTTCTCCA c.218-8_218-7insTGGAGAACCCAAA splice_region NOC3L 1 80336 1.24477E-5 40168 0 NA
10-96117980-A-C c.218-8T>G splice_region NOC3L 94 80200 0.00117207 40100 0 0.00202933
10-96121423-T-C p.Pro72Pro splice_region+synonymous NOC3L 4 83030 4.81754E-5 41515 0 NA
10-96121427-C-T p.Arg71Gln missense NOC3L 2 83060 2.4079E-5 41530 0 2.79236E-5
10-96121428-G-A p.Arg71* stop_gained NOC3L 3 83062 3.61176E-5 41531 0 3.98889E-6
10-96121435-C-T p.Lys68Lys synonymous NOC3L 1 83124 1.20302E-5 41562 0 NA
10-96121436-T-C p.Lys68Arg missense NOC3L 1 83126 1.20299E-5 41563 0 NA
10-96121440-G-A p.Pro67Ser missense NOC3L 23 83154 2.76595E-4 41577 0 5.73175E-4
10-96121453-A-G p.Ile62Ile synonymous NOC3L 2 83206 2.40367E-5 41603 0 NA
10-96121459-T-C p.Lys60Lys synonymous NOC3L 1 83240 1.20135E-5 41620 0 1.64747E-5
10-96121463-T-C p.Lys59Arg missense NOC3L 2 83248 2.40246E-5 41624 0 3.97785E-6
10-96121484-G-A p.Ala52Val missense NOC3L 3 83284 3.60213E-5 41642 0 8.23737E-5
10-96121491-T-G p.Arg50Arg synonymous NOC3L 1 83286 1.20068E-5 41643 0 6.36902E-5
10-96121492-T-C p.Leu49Leu synonymous NOC3L 1 83294 1.20057E-5 41647 0 1.6475E-5
10-96121496-T-C p.Lys48Arg missense NOC3L 1 83294 1.20057E-5 41647 0 NA
10-96121503-G-T p.Gln46Lys missense NOC3L 14 83306 1.68055E-4 41653 1 5.48895E-4
10-96121505-T-C p.Glu45Gly missense NOC3L 758 83292 0.00910051 41646 6 0.00910654
10-96121511-C-T p.Arg43Gln missense NOC3L 91 83302 0.00109241 41651 0 0.00283674
10-96121514-T-A p.Tyr42Phe missense NOC3L 1 83304 1.20042E-5 41652 0 2.47125E-5
10-96121525-A-G p.Thr38Thr synonymous NOC3L 5 83304 6.00211E-5 41652 0 4.11916E-5
10-96121534-T-C p.Gln35Gln synonymous NOC3L 2 83304 2.40085E-5 41652 0 6.3678E-5
10-96121536-GTTTAAACTGCTTA-G p.Lys31fs frameshift NOC3L 1 83306 1.20039E-5 41653 0 1.64853E-5
10-96121537-T-C p.Lys34Lys synonymous NOC3L 1 83304 1.20042E-5 41652 0 7.95748E-6
10-96121549-A-G p.Asn30Asn synonymous NOC3L 1 83294 1.20057E-5 41647 0 NA
10-96121561-G-C p.Asn26Lys missense NOC3L 1 83306 1.20039E-5 41653 0 NA
10-96121572-T-A p.Lys23* stop_gained NOC3L 1 83280 1.20077E-5 41640 0 NA
10-96121574-A-T p.Val22Asp missense NOC3L 1 83274 1.20085E-5 41637 0 NA
10-96121580-C-T p.Ser20Asn missense NOC3L 3 83272 3.60265E-5 41636 0 1.66792E-5
10-96121587-T-G p.Lys18Gln missense NOC3L 4 83264 4.804E-5 41632 0 3.1839E-5
10-96121597-G-A p.Arg14Arg synonymous NOC3L 2 83224 2.40315E-5 41612 0 NA
10-96121606-T-G p.Pro11Pro synonymous NOC3L 2 83170 2.40471E-5 41585 0 6.28141E-4
10-96121609-G-A p.Ile10Ile synonymous NOC3L 143 83126 0.00172028 41563 1 0.00604839
10-96121706-T-C p.Lys2Lys synonymous NOC3L 1 76296 1.31068E-5 38148 0 NA
10-96121709-C-T p.Met1? start_lost NOC3L 2 75728 2.64103E-5 37864 0 NA
10-96121710-A-T p.Met1? start_lost NOC3L 1 75588 1.32296E-5 37794 0 1.31454E-5
10-96122588-G-A p.Ala3Val missense+splice_region NOC3L 7 82866 8.44737E-5 41433 0 1.59236E-4
10-96122642-G-A c.-47C>T 5_prime_UTR_premature_start_codon_gain NOC3L 1 82340 1.21448E-5 41170 0 3.99974E-6
10-96122653-G-A c.-58C>T 5_prime_UTR_premature_start_codon_gain NOC3L 1 82110 1.21788E-5 41055 0 NA
10-96122661-G-A c.-66C>T 5_prime_UTR_premature_start_codon_gain NOC3L 2 81902 2.44194E-5 40951 0 NA