Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
14-77255302-A-T c.*269T>A splice_region ANGEL1 1 16520 6.05327E-5 8260 0 9.5706E-5
14-77255578-G-T p.Ala669Asp missense ANGEL1 1 82984 1.20505E-5 41492 0 NA
14-77255580-G-A p.Thr668Thr synonymous ANGEL1 23 82976 2.77189E-4 41488 0 1.59239E-4
14-77255588-C-T p.Glu666Lys missense ANGEL1 1 83004 1.20476E-5 41502 0 3.18471E-5
14-77255594-C-T p.Gly664Arg missense ANGEL1 1 83022 1.2045E-5 41511 0 4.94682E-5
14-77255595-G-A p.Phe663Phe synonymous ANGEL1 25 83008 3.01176E-4 41504 2 0.0040282
14-77255607-C-T p.Leu659Leu synonymous ANGEL1 1 83034 1.20433E-5 41517 0 NA
14-77255612-A-C p.Cys658Gly missense ANGEL1 2 83020 2.40906E-5 41510 0 1.64783E-5
14-77255618-G-T p.His656Asn missense ANGEL1 4 83046 4.81661E-5 41523 0 1.27421E-4
14-77255631-G-C p.Phe651Leu missense ANGEL1 1 83102 1.20334E-5 41551 0 NA
14-77255650-T-C p.Asn645Ser missense ANGEL1 1 83168 1.20239E-5 41584 0 5.76654E-5
14-77255665-A-G p.Ile640Thr missense ANGEL1 10 83150 1.20265E-4 41575 0 5.03525E-4
14-77255673-A-G p.Ser637Ser synonymous ANGEL1 1 83138 1.20282E-5 41569 0 NA
14-77255689-C-T p.Arg632His missense ANGEL1 6 83086 7.22143E-5 41543 0 6.25E-4
14-77255703-G-C p.Leu627Leu synonymous ANGEL1 1 83046 1.20415E-5 41523 0 NA
14-77255707-G-T p.Thr626Asn missense ANGEL1 1 83000 1.20482E-5 41500 0 NA
14-77255708-T-A p.Thr626Ser missense ANGEL1 1 82984 1.20505E-5 41492 0 NA
14-77255714-C-T p.Asp624Asn missense ANGEL1 1 82946 1.2056E-5 41473 0 1.65046E-5
14-77255717-G-A p.Arg623* stop_gained ANGEL1 1 82932 1.20581E-5 41466 0 8.25437E-6
14-77255719-T-C p.Tyr622Cys missense ANGEL1 1 82922 1.20595E-5 41461 0 3.97978E-6
14-77255730-A-ATCAGT p.Asp618fs frameshift ANGEL1 1 82856 1.20691E-5 41428 0 NA
14-77255734-G-A c.1853-3C>T splice_region ANGEL1 1 82824 1.20738E-5 41412 0 3.18512E-5
14-77256948-G-A c.1852+6C>T splice_region ANGEL1 17 83180 2.04376E-4 41590 0 1.43622E-4
14-77256964-C-G p.Gly614Gly synonymous ANGEL1 1 83208 1.20181E-5 41604 0 1.19668E-5
14-77256973-A-T p.Cys611* stop_gained ANGEL1 4 83206 4.80735E-5 41603 0 NA
14-77256976-G-A p.Ser610Ser synonymous ANGEL1 1 83210 1.20178E-5 41605 0 3.18634E-5
14-77256981-C-G p.Glu609Gln missense ANGEL1 1 83220 1.20163E-5 41610 0 NA
14-77257019-C-G p.Gly596Ala missense ANGEL1 1 83220 1.20163E-5 41610 0 NA
14-77257021-C-T p.Leu595Leu synonymous ANGEL1 1 83218 1.20166E-5 41609 0 NA
14-77257023-A-G p.Leu595Leu synonymous ANGEL1 1 83228 1.20152E-5 41614 0 3.18634E-5
14-77257023-A-C p.Leu595Val missense ANGEL1 1 83228 1.20152E-5 41614 0 NA
14-77257029-T-C p.Met593Val missense ANGEL1 2 83246 2.40252E-5 41623 0 6.37064E-5
14-77257030-TGTA-T p.Thr592del disruptive_inframe_deletion ANGEL1 1 83248 1.20123E-5 41624 0 NA
14-77257046-C-T p.Arg587His missense ANGEL1 99 83258 0.00118907 41629 0 0.00274077
14-77257047-G-A p.Arg587Cys missense ANGEL1 5 83268 6.00471E-5 41634 1 8.35488E-5
14-77257052-C-T p.Arg585His missense ANGEL1 1 83272 1.20088E-5 41636 0 4.95131E-5
14-77257053-G-A p.Arg585Cys missense ANGEL1 7 83280 8.40538E-5 41640 0 3.18654E-5
14-77257081-C-T p.Thr575Thr synonymous ANGEL1 217 83294 0.00260523 41647 0 0.00640576
14-77257081-C-A p.Thr575Thr synonymous ANGEL1 6 83296 7.20323E-5 41648 0 3.18695E-5
14-77257082-G-A p.Thr575Met missense ANGEL1 1 83288 1.20065E-5 41644 0 6.25E-4
14-77257115-G-A p.Thr564Ile missense+splice_region ANGEL1 3 83180 3.60664E-5 41590 0 1.82093E-5
14-77257117-C-G p.Arg563Ser missense+splice_region ANGEL1 2 83168 2.40477E-5 41584 0 3.18674E-5
14-77257119-T-TA c.1689-3_1689-2insT splice_region ANGEL1 1 83144 1.20273E-5 41572 0 9.35104E-6
14-77257119-T-TGGAGAAGGCAGGCTCAAGCTCCGATGCATCTTCCTCAAGG c.1689-3_1689-2insCCTTGAGGAAGATGCATCGGAGCTTGAGCCTGCCTTCTCC splice_region ANGEL1 6 83144 7.2164E-5 41572 3 NA
14-77257119-T-TGGAGAAGGCAGGCTCAAGCTCCGATGCATCTTCCTCAAGGACAG c.1689-3_1689-2insCTGTCCTTGAGGAAGATGCATCGGAGCTTGAGCCTGCCTTCTCC splice_region ANGEL1 1 83144 1.20273E-5 41572 0 NA
14-77257119-T-A c.1689-2A>T splice_acceptor ANGEL1 1 83144 1.20273E-5 41572 0 NA
14-77257636-T-C c.1688+4A>G splice_region ANGEL1 4 83088 4.81417E-5 41544 0 9.55475E-5
14-77257646-A-T p.Phe561Tyr missense ANGEL1 2 83160 2.405E-5 41580 0 NA
14-77257647-A-G p.Phe561Leu missense ANGEL1 1 83166 1.20241E-5 41583 0 NA
14-77257654-C-T p.Glu558Glu synonymous ANGEL1 1 83174 1.2023E-5 41587 0 NA
14-77257661-T-A p.Glu556Val missense ANGEL1 3 83172 3.60698E-5 41586 0 3.18573E-5
14-77257663-C-T p.Ser555Ser synonymous ANGEL1 1 83164 1.20244E-5 41582 0 NA
14-77257664-G-A p.Ser555Leu missense ANGEL1 1 83164 1.20244E-5 41582 0 8.23778E-6
14-77257669-A-G p.Asp553Asp synonymous ANGEL1 1 83172 1.20233E-5 41586 0 3.1841E-5
14-77257670-T-A p.Asp553Val missense ANGEL1 1 83168 1.20239E-5 41584 0 3.97782E-6
14-77257699-C-T p.Ala543Ala synonymous ANGEL1 1 83052 1.20406E-5 41526 0 3.18593E-5
14-77257702-A-G p.Pro542Pro synonymous ANGEL1 26 83022 3.1317E-4 41511 1 0.001875
14-77257707-G-A p.Arg541* stop_gained ANGEL1 3 82960 3.6162E-5 41480 0 7.96159E-6
14-77257711-T-C c.1619-2A>G splice_acceptor ANGEL1 1 82916 1.20604E-5 41458 0 NA
14-77269722-G-T p.Thr537Asn missense ANGEL1 1 83320 1.20019E-5 41660 0 3.97981E-6
14-77269725-T-G p.Asp536Ala missense ANGEL1 1 83316 1.20025E-5 41658 0 1.1937E-5
14-77269727-T-C p.Thr535Thr synonymous ANGEL1 37 83316 4.44092E-4 41658 0 0.00151057
14-77269737-T-G p.Glu532Ala missense ANGEL1 1 83336 1.19996E-5 41668 0 NA
14-77269744-G-A p.Leu530Phe missense ANGEL1 1 83348 1.19979E-5 41674 0 NA
14-77269745-G-A p.Val529Val synonymous ANGEL1 9 83342 1.07989E-4 41671 0 1.91058E-4
14-77269754-T-C p.Val526Val synonymous ANGEL1 2 83352 2.39946E-5 41676 0 3.97665E-6
14-77269756-C-T p.Val526Ile missense ANGEL1 2 83354 2.3994E-5 41677 0 9.14637E-5
14-77269761-C-T p.Arg524Gln missense ANGEL1 3 83350 3.59928E-5 41675 0 3.97678E-6
14-77269771-C-T p.Ala521Thr missense ANGEL1 1 83358 1.19964E-5 41679 0 3.29489E-5
14-77269772-G-A c.-31C>T 5_prime_UTR_premature_start_codon_gain ANGEL1 1 83360 1.19962E-5 41680 0 1.59071E-5
14-77269772-G-C p.Ile520Met missense ANGEL1 1 83360 1.19962E-5 41680 0 NA
14-77269785-C-T p.Arg516His missense ANGEL1 2 83362 2.39917E-5 41681 0 1.6475E-5
14-77269786-G-A p.Arg516Cys missense ANGEL1 1 83368 1.1995E-5 41684 0 2.47129E-5
14-77269788-A-C p.Phe515Cys missense ANGEL1 7901 83224 0.0949366 41612 418 0.117851
14-77269791-C-T p.Arg514His missense ANGEL1 3 83370 3.59842E-5 41685 0 4.11923E-5
14-77269792-G-A p.Arg514Cys missense ANGEL1 5 83370 5.99736E-5 41685 0 4.94307E-5
14-77269796-C-T p.Leu512Leu synonymous ANGEL1 1 83364 1.19956E-5 41682 0 NA
14-77269801-A-T p.Phe511Ile missense ANGEL1 4 83352 4.79893E-5 41676 0 3.18471E-5
14-77269803-T-C p.Asp510Gly missense ANGEL1 205 83338 0.00245986 41669 0 0.00592432
14-77269807-G-A p.Arg509* stop_gained ANGEL1 2 83342 2.39975E-5 41671 0 6.25E-4
14-77269817-G-C p.Arg505Arg synonymous ANGEL1 1 83310 1.20034E-5 41655 0 4.37515E-5
14-77269819-G-A p.Arg505Cys missense ANGEL1 4 83302 4.80181E-5 41651 0 1.98877E-5
14-77270139-G-C p.Pro499Pro synonymous ANGEL1 1 82988 1.20499E-5 41494 0 NA
14-77270141-G-A p.Pro499Ser missense ANGEL1 1 83008 1.2047E-5 41504 0 6.36983E-5
14-77270149-G-A p.Ser496Phe missense ANGEL1 1 83142 1.20276E-5 41571 0 4.77814E-5
14-77270151-G-A p.Thr495Thr synonymous ANGEL1 2 83182 2.40437E-5 41591 0 1.19437E-5
14-77270177-T-C p.Ile487Val missense ANGEL1 5 83256 6.00557E-5 41628 0 6.25782E-4
14-77270181-C-G p.Leu485Leu synonymous ANGEL1 3 83260 3.60317E-5 41630 0 NA
14-77270184-G-C p.Ser484Ser synonymous ANGEL1 1 83264 1.201E-5 41632 0 NA
14-77270185-GA-AT p.Ser484Ile missense ANGEL1 1 83260 1.20106E-5 41630 0 NA
14-77270198-G-T p.Leu480Met missense ANGEL1 1 83292 1.2006E-5 41646 0 NA
14-77270203-G-T p.Ala478Asp missense ANGEL1 1 83292 1.2006E-5 41646 0 NA
14-77270214-C-A p.Arg474Ser missense ANGEL1 1 83296 1.20054E-5 41648 0 NA
14-77270219-G-C p.Gln473Glu missense ANGEL1 1 83290 1.20062E-5 41645 0 NA
14-77270231-G-A p.His469Tyr missense ANGEL1 1 83288 1.20065E-5 41644 0 7.95406E-6
14-77270232-G-C p.Ser468Ser synonymous ANGEL1 11 83288 1.32072E-4 41644 0 5.03525E-4
14-77270255-C-T p.Val461Ile missense+splice_region ANGEL1 1 83252 1.20117E-5 41626 0 1.5953E-4
14-77270259-G-C c.1381-4C>G splice_region ANGEL1 6 83238 7.20825E-5 41619 0 2.87155E-4
14-77270260-G-T p.Thr24Asn missense ANGEL1 1 83238 1.20137E-5 41619 0 1.59148E-5
14-77270281-T-C p.Tyr17Cys missense ANGEL1 1 83092 1.20349E-5 41546 0 8.31103E-6
14-77270295-T-C p.Leu12Leu synonymous ANGEL1 1 82880 1.20656E-5 41440 0 8.33444E-6
14-77270303-G-T p.Leu10Ile missense ANGEL1 1 82720 1.2089E-5 41360 0 7.99392E-6
14-77270311-C-T p.Cys7Tyr missense ANGEL1 1 82506 1.21203E-5 41253 0 6.36862E-5
14-77270358-C-T c.-28G>A 5_prime_UTR_premature_start_codon_gain ANGEL1 1 78660 1.27129E-5 39330 0 NA
14-77270362-C-G c.-32G>C 5_prime_UTR_premature_start_codon_gain ANGEL1 1 77962 1.28268E-5 38981 0 2.93123E-5
14-77270362-C-A c.-32G>T 5_prime_UTR_premature_start_codon_gain ANGEL1 2 77962 2.56535E-5 38981 0 NA
14-77270412-T-C c.-82A>G 5_prime_UTR_premature_start_codon_gain ANGEL1 1 60260 1.65948E-5 30130 0 NA
14-77270707-A-G c.-377T>C 5_prime_UTR_premature_start_codon_gain ANGEL1 405 25064 0.0161586 12532 5 0.014646
14-77270715-T-C c.-211+3A>G splice_region ANGEL1 1 24792 4.03356E-5 12396 0 2.86569E-4
14-77270719-G-A c.-212C>T 5_prime_UTR_premature_start_codon_gain ANGEL1 1 24748 4.04073E-5 12374 0 NA
14-77270720-T-C c.-213A>G 5_prime_UTR_premature_start_codon_gain ANGEL1 1 24698 4.04891E-5 12349 0 NA
14-77270766-C-T c.-251-8G>A splice_region ANGEL1 3 24518 1.22359E-4 12259 0 1.2738E-4
14-77270767-G-A c.-437C>T 5_prime_UTR_premature_start_codon_gain ANGEL1 1 24466 4.0873E-5 12233 0 3.1839E-5
14-77272806-A-G p.Phe445Leu missense ANGEL1 1 83260 1.20106E-5 41630 0 6.37267E-5
14-77272825-A-G p.Pro438Pro synonymous ANGEL1 1 83266 1.20097E-5 41633 0 1.64799E-5
14-77272847-C-A p.Cys431Phe missense ANGEL1 8 83274 9.60684E-5 41637 0 3.82141E-4
14-77272854-T-C p.Ile429Val missense ANGEL1 1 83296 1.20054E-5 41648 0 NA
14-77272861-G-A p.Cys426Cys synonymous ANGEL1 4 83284 4.80284E-5 41642 0 3.18654E-5
14-77272879-C-T p.Leu420Leu synonymous ANGEL1 1 83264 1.201E-5 41632 0 NA
14-77272881-G-C p.Leu420Val missense ANGEL1 1 83266 1.20097E-5 41633 0 8.239E-6
14-77272881-G-A p.Leu420Leu synonymous ANGEL1 1 83266 1.20097E-5 41633 0 8.239E-6
14-77272884-T-G p.Arg419Arg synonymous ANGEL1 1 83274 1.20085E-5 41637 0 8.23873E-6
14-77272903-C-T p.Ala412Ala synonymous ANGEL1 2 83272 2.40177E-5 41636 0 3.97684E-6
14-77272906-CAGG-C p.Leu411del disruptive_inframe_deletion ANGEL1 1 83270 1.20091E-5 41635 0 5.03525E-4
14-77272909-G-A p.Leu410Leu synonymous ANGEL1 2 83270 2.40183E-5 41635 0 3.18552E-5
14-77272911-G-A p.Leu410Phe missense ANGEL1 1 83264 1.201E-5 41632 0 8.2394E-6
14-77272926-C-T p.Ala405Thr missense ANGEL1 1 83258 1.20109E-5 41629 0 NA
14-77272940-C-T p.Gly400Asp missense ANGEL1 1 83254 1.20114E-5 41627 0 NA
14-77272943-C-T p.Arg399Gln missense ANGEL1 2 83260 2.40211E-5 41630 0 3.97842E-5
14-77272946-C-T p.Arg398His missense ANGEL1 2 83232 2.40292E-5 41616 0 8.2409E-6
14-77272946-C-A p.Arg398Leu missense ANGEL1 1 83232 1.20146E-5 41616 0 NA
14-77272947-G-A p.Arg398Cys missense ANGEL1 13 83242 1.56171E-4 41621 0 6.25E-4
14-77272954-GTAAAGGATA-G p.Ile393_Tyr395del disruptive_inframe_deletion ANGEL1 1 83244 1.20129E-5 41622 0 NA
14-77272965-G-T p.His392Asn missense ANGEL1 1 83254 1.20114E-5 41627 0 NA
14-77272966-G-C p.Thr391Thr synonymous ANGEL1 25 83252 3.00293E-4 41626 0 1.9129E-4
14-77272974-C-T p.Ala389Thr missense ANGEL1 1 83226 1.20155E-5 41613 0 NA
14-77272979-C-T p.Cys387Tyr missense ANGEL1 1 83222 1.20161E-5 41611 0 3.23018E-5
14-77272981-C-T p.Leu386Leu synonymous ANGEL1 1 83220 1.20163E-5 41610 0 7.96001E-6
14-77272984-C-T p.Pro385Pro synonymous ANGEL1 1 83188 1.2021E-5 41594 0 1.28493E-4
14-77272984-C-A p.Pro385Pro synonymous ANGEL1 1 83188 1.2021E-5 41594 0 NA
14-77272985-G-T p.Pro385Gln missense ANGEL1 1 83196 1.20198E-5 41598 0 NA
14-77272985-G-A p.Pro385Leu missense ANGEL1 1 83196 1.20198E-5 41598 0 1.1944E-5
14-77272992-C-G p.Val383Leu missense ANGEL1 3605 83144 0.0433585 41572 92 0.0485239
14-77272994-G-A p.Ser382Leu missense ANGEL1 1 83182 1.20218E-5 41591 0 3.18613E-5
14-77272996-G-T p.Val381Val synonymous ANGEL1 2 83190 2.40414E-5 41595 0 8.24661E-6
14-77272996-G-A p.Val381Val synonymous ANGEL1 4 83190 4.80827E-5 41595 0 3.98108E-6
14-77273003-C-T p.Gly379Glu missense ANGEL1 6 83188 7.21258E-5 41594 0 6.25E-4
14-77273015-G-A p.Pro375Leu missense ANGEL1 2 83204 2.40373E-5 41602 0 8.24946E-6
14-77273019-C-T p.Val374Ile missense ANGEL1 4 83176 4.80908E-5 41588 0 1.65016E-5
14-77273020-G-A p.Leu373Leu synonymous ANGEL1 6 83166 7.21449E-5 41583 0 0.00100705
14-77273025-G-C p.Pro372Ala missense ANGEL1 13 83154 1.56336E-4 41577 0 1.5949E-4
14-77273035-C-T p.Leu368Leu synonymous ANGEL1 3 83154 3.60776E-5 41577 0 9.56511E-5
14-77273044-G-A p.Gly365Gly synonymous ANGEL1 1 83158 1.20253E-5 41579 0 NA
14-77273057-C-T p.Arg361Gln missense ANGEL1 1 83186 1.20213E-5 41593 0 5.03525E-4
14-77273058-G-T p.Arg361Arg synonymous ANGEL1 3 83196 3.60594E-5 41598 0 2.7053E-4
14-77273058-G-A p.Arg361Trp missense ANGEL1 8 83196 9.61585E-5 41598 0 6.37511E-5
14-77273068-C-T p.Glu357Glu synonymous ANGEL1 4 83210 4.80711E-5 41605 0 1.27453E-4
14-77273073-A-G p.Leu356Leu synonymous ANGEL1 2 83202 2.40379E-5 41601 0 8.7519E-5
14-77273078-G-A p.Pro354Leu missense ANGEL1 1 83192 1.20204E-5 41596 0 NA
14-77273087-T-C p.Tyr351Cys missense ANGEL1 2 83172 2.40466E-5 41586 0 NA
14-77273088-A-G p.Tyr351His missense ANGEL1 2 83174 2.4046E-5 41587 0 8.27089E-6
14-77273097-G-C p.Pro348Ala missense ANGEL1 2 83154 2.40518E-5 41577 0 6.61978E-5
14-77273101-A-G p.Ala346Ala synonymous ANGEL1 1 83134 1.20288E-5 41567 0 3.97975E-6
14-77273105-C-T p.Cys345Tyr missense ANGEL1 2 83120 2.40616E-5 41560 0 NA
14-77273109-G-C p.Leu344Val missense ANGEL1 1 83084 1.2036E-5 41542 0 3.31307E-5
14-77273115-G-A p.Arg342Cys missense ANGEL1 9 83018 1.0841E-4 41509 0 4.38128E-5
14-77273124-T-A p.Thr339Ser missense ANGEL1 1 82962 1.20537E-5 41481 0 NA
14-77273134-GCAGA-G p.Val334fs frameshift ANGEL1 1 82816 1.2075E-5 41408 0 NA
14-77273141-G-C p.Ala333Gly missense ANGEL1 6 82656 7.259E-5 41328 0 0.00375
14-77273162-C-T p.Gly326Glu missense ANGEL1 1 81620 1.22519E-5 40810 0 2.50238E-5
14-77273167-C-T p.Arg324Arg synonymous ANGEL1 1 81276 1.23038E-5 40638 0 NA
14-77273171-C-T p.Arg323Lys missense ANGEL1 1 80988 1.23475E-5 40494 0 4.02713E-5
14-77273193-C-CCATCATTCGCAGAGAGGGTTCCAGCTGCTCCCAGTAA c.947-2_947-1insTTACTGGGAGCAGCTGGAACCCTCTCTGCGAATGATG splice_acceptor ANGEL1 2 77594 2.57752E-5 38797 1 NA
14-77273200-G-C c.947-8C>G splice_region ANGEL1 1 76104 1.31399E-5 38052 0 NA
14-77273782-T-C p.Met314Val missense ANGEL1 1 82974 1.2052E-5 41487 0 NA
14-77273784-C-T p.Arg313Gln missense ANGEL1 3 82984 3.61515E-5 41492 0 3.18471E-5
14-77273785-G-A p.Arg313* stop_gained ANGEL1 2 82980 2.41022E-5 41490 0 3.0673E-5
14-77273801-C-G p.Gln307His missense ANGEL1 12 83034 1.44519E-4 41517 0 4.77829E-4
14-77273823-T-C p.Gln300Arg missense ANGEL1 2 82986 2.41005E-5 41493 0 1.80744E-5
14-77273828-T-C p.Glu298Glu synonymous ANGEL1 1 82926 1.20589E-5 41463 0 1.79956E-5
14-77273845-T-C p.Ile293Val missense+splice_region ANGEL1 1 82702 1.20916E-5 41351 0 NA
14-77273847-T-G c.877-2A>C splice_acceptor ANGEL1 2 82668 2.41932E-5 41334 0 4.80885E-5
14-77274260-C-T c.876+5G>A splice_region ANGEL1 1 83198 1.20195E-5 41599 0 NA
14-77274283-G-C p.Phe286Leu missense ANGEL1 1 83296 1.20054E-5 41648 0 NA
14-77274292-C-T p.Met283Ile missense ANGEL1 8 83310 9.60269E-5 41655 0 1.9882E-4
14-77274294-T-C p.Met283Val missense ANGEL1 1 83308 1.20036E-5 41654 0 3.18451E-5
14-77274297-G-A p.Leu282Phe missense ANGEL1 1 83324 1.20013E-5 41662 0 3.97636E-6
14-77274308-C-T p.Arg278His missense ANGEL1 2 83342 2.39975E-5 41671 0 5.9645E-5
14-77274309-G-A p.Arg278Cys missense ANGEL1 1 83342 1.19988E-5 41671 0 3.29533E-5
14-77274311-T-C p.Tyr277Cys missense ANGEL1 2 83340 2.39981E-5 41670 0 8.23845E-6
14-77274315-T-C p.Asn276Asp missense ANGEL1 3 83342 3.59963E-5 41671 0 1.64761E-5
14-77274320-T-C p.Asn274Ser missense ANGEL1 16 83340 1.91985E-4 41670 0 0.00151057
14-77274321-T-C p.Asn274Asp missense ANGEL1 1 83344 1.19985E-5 41672 0 NA
14-77274345-G-A p.Leu266Leu synonymous ANGEL1 2 83328 2.40015E-5 41664 0 NA
14-77274351-G-T p.Leu264Ile missense ANGEL1 2 83332 2.40004E-5 41666 0 NA
14-77274359-C-T p.Ser261Asn missense ANGEL1 1 83334 1.19999E-5 41667 0 NA
14-77274372-G-C p.Leu257Val missense ANGEL1 1 83350 1.19976E-5 41675 0 7.95267E-6
14-77274382-C-T p.Leu253Leu synonymous ANGEL1 1 83352 1.19973E-5 41676 0 NA
14-77274394-A-G p.Ser249Ser synonymous ANGEL1 1 83340 1.1999E-5 41670 0 3.97646E-6
14-77274406-G-A p.Phe245Phe synonymous ANGEL1 11 83330 1.32005E-4 41665 0 5.03525E-4
14-77274411-G-A p.Gln244* stop_gained ANGEL1 2 83316 2.4005E-5 41658 0 6.25E-4
14-77274421-G-A p.Gly240Gly synonymous ANGEL1 3 83318 3.60066E-5 41659 0 1.19297E-5
14-77274424-A-G p.Asp239Asp synonymous ANGEL1 3 83314 3.60084E-5 41657 0 6.25E-4
14-77274438-G-C p.Leu235Val missense ANGEL1 1 83296 1.20054E-5 41648 0 NA
14-77274453-G-T p.Pro230Thr missense ANGEL1 1 83272 1.20088E-5 41636 0 3.33272E-5
14-77274454-C-G p.Gln229His missense ANGEL1 58 83266 6.96563E-4 41633 0 0.00165647
14-77274456-G-A p.Gln229* stop_gained ANGEL1 2 83260 2.40211E-5 41630 0 NA
14-77274480-G-A p.Arg221* stop_gained ANGEL1 2 83200 2.40385E-5 41600 0 2.65821E-5
14-77274484-CA-C p.Leu219fs frameshift ANGEL1 1 83186 1.20213E-5 41593 0 NA
14-77274486-A-G p.Leu219Leu synonymous ANGEL1 1 83174 1.2023E-5 41587 0 4.60058E-5
14-77274491-T-TCATGATATGGTATTTCCACTGCGGGAGG c.650-1_650insCCTCCCGCAGTGGAAATACCATATCATG splice_acceptor ANGEL1 2 83160 2.405E-5 41580 1 NA
14-77274498-A-G c.650-7T>C splice_region ANGEL1 2 83104 2.40662E-5 41552 0 3.1841E-5
14-77274499-G-A c.650-8C>T splice_region ANGEL1 1 83090 1.20351E-5 41545 0 NA
14-77275418-C-T p.Val211Val synonymous ANGEL1 931 82424 0.0112953 41212 7 0.0125
14-77275423-C-T p.Ala210Thr missense ANGEL1 79 82546 9.57042E-4 41273 0 0.00151976
14-77275424-G-A p.Pro209Pro synonymous ANGEL1 6 82634 7.26093E-5 41317 0 5.05561E-4
14-77275424-G-T p.Pro209Pro synonymous ANGEL1 1 82634 1.21016E-5 41317 0 NA
14-77275447-C-A p.Gly202Cys missense ANGEL1 4 82942 4.82265E-5 41471 0 1.66373E-5
14-77275454-G-C p.Pro199Pro synonymous ANGEL1 1 83014 1.20462E-5 41507 0 3.98804E-6
14-77275455-G-T p.Pro199His missense ANGEL1 1 83010 1.20467E-5 41505 0 3.32276E-5
14-77275456-G-T p.Pro199Thr missense ANGEL1 1 82992 1.20494E-5 41496 0 NA
14-77275462-T-A p.Ile197Phe missense ANGEL1 1 83006 1.20473E-5 41503 0 NA
14-77275484-A-G p.Pro189Pro synonymous ANGEL1 1 82934 1.20578E-5 41467 0 1.27413E-4
14-77275486-G-A p.Pro189Ser missense ANGEL1 8 82914 9.64855E-5 41457 1 0.0040282
14-77275487-C-T p.Glu188Glu synonymous ANGEL1 5 82880 6.03282E-5 41440 0 5.03525E-4
14-77275498-T-C p.Ile185Val missense ANGEL1 1 82804 1.20767E-5 41402 0 3.18573E-5
14-77275513-C-T p.Val180Met missense ANGEL1 8 82656 9.67867E-5 41328 0 2.53893E-5
14-77275515-G-A p.Ala179Val missense ANGEL1 1 82640 1.21007E-5 41320 0 1.69658E-5
14-77275525-C-G p.Glu176Gln missense ANGEL1 3 82660 3.62932E-5 41330 0 6.36983E-5
14-77275542-G-C p.Ala170Gly missense ANGEL1 1 82626 1.21027E-5 41313 0 4.02097E-6
14-77275551-C-T p.Gly167Asp missense ANGEL1 3 82600 3.63196E-5 41300 0 NA
14-77275553-C-T p.Val166Val synonymous ANGEL1 1 82612 1.21048E-5 41306 0 NA
14-77275574-T-G p.Ala159Ala synonymous ANGEL1 2 82516 2.42377E-5 41258 0 NA
14-77275588-C-A p.Glu155* stop_gained ANGEL1 1 82404 1.21353E-5 41202 0 1.75082E-5
14-77275590-G-A p.Ser154Leu missense ANGEL1 1 82412 1.21342E-5 41206 0 3.18573E-5
14-77275617-G-T p.Ser145Tyr missense ANGEL1 1 82370 1.21403E-5 41185 0 NA
14-77275617-G-A p.Ser145Phe missense ANGEL1 1 82370 1.21403E-5 41185 0 NA
14-77275619-G-GCCCTCCACC p.Gly144_Ser145insValGluGly disruptive_inframe_insertion ANGEL1 1 82350 1.21433E-5 41175 0 NA
14-77275623-T-C p.Glu143Gly missense ANGEL1 1 82378 1.21392E-5 41189 0 NA
14-77275625-C-T p.Val142Val synonymous ANGEL1 1 82406 1.2135E-5 41203 0 NA
14-77275630-C-A p.Gly141Trp missense ANGEL1 4748 82294 0.0576956 41147 152 0.06875
14-77275630-C-T p.Gly141Arg missense ANGEL1 1 82448 1.21289E-5 41224 0 4.79643E-5
14-77275630-C-G p.Gly141Arg missense ANGEL1 1 82448 1.21289E-5 41224 0 8.43925E-6
14-77275631-C-T p.Glu140Glu synonymous ANGEL1 1 82458 1.21274E-5 41229 0 NA
14-77275636-C-G p.Val139Leu missense ANGEL1 1 82482 1.21239E-5 41241 0 NA
14-77275636-C-T p.Val139Met missense ANGEL1 1 82482 1.21239E-5 41241 0 NA
14-77275647-G-A p.Pro135Leu missense ANGEL1 1 82558 1.21127E-5 41279 0 1.66542E-5
14-77275649-C-T p.Glu134Glu synonymous ANGEL1 1 82568 1.21112E-5 41284 0 NA
14-77275660-G-A p.Leu131Leu synonymous ANGEL1 1 82630 1.21021E-5 41315 0 3.1839E-5
14-77275693-C-T p.Ala120Thr missense ANGEL1 2 82526 2.42348E-5 41263 0 1.27392E-4
14-77275698-C-T p.Arg118Gln missense ANGEL1 2 82476 2.42495E-5 41238 0 1.59232E-5
14-77275699-G-A p.Arg118Trp missense ANGEL1 4 82466 4.85048E-5 41233 0 2.47639E-5
14-77275703-G-A p.Asp116Asp synonymous ANGEL1 2 82454 2.42559E-5 41227 0 8.25314E-6
14-77275704-T-C p.Asp116Gly missense ANGEL1 1 82436 1.21306E-5 41218 0 8.25287E-6
14-77275722-G-A p.Ser110Phe missense ANGEL1 2 82256 2.43143E-5 41128 0 1.19407E-5
14-77275766-C-T p.Met95Ile missense ANGEL1 1 82056 1.21868E-5 41028 0 8.25491E-6
14-77275788-T-TG p.Gln88fs frameshift ANGEL1 2 82096 2.43617E-5 41048 0 8.25928E-6
14-77275790-G-C p.Ala87Ala synonymous ANGEL1 2 82062 2.43718E-5 41031 0 3.18756E-5
14-77275792-C-T p.Ala87Thr missense ANGEL1 2 82038 2.43789E-5 41019 0 8.2616E-6
14-77275793-T-C p.Leu86Leu synonymous ANGEL1 1 82070 1.21847E-5 41035 0 NA
14-77275802-A-C p.Asp83Glu missense ANGEL1 1 82130 1.21758E-5 41065 0 NA
14-77275805-T-C p.Ile82Met missense ANGEL1 1 82100 1.21803E-5 41050 0 NA
14-77275810-G-C p.Leu81Val missense ANGEL1 20 82102 2.43599E-4 41051 0 7.00949E-4
14-77275813-G-A p.Pro80Ser missense ANGEL1 1 82064 1.21856E-5 41032 0 NA
14-77275814-C-G p.Gly79Gly synonymous ANGEL1 2 82050 2.43754E-5 41025 0 NA
14-77275816-C-A p.Gly79Trp missense ANGEL1 1 82080 1.21832E-5 41040 0 4.9613E-5
14-77275817-C-T p.Glu78Glu synonymous ANGEL1 3 82112 3.65355E-5 41056 0 NA
14-77275847-C-G p.Gly68Gly synonymous ANGEL1 1 82044 1.21886E-5 41022 0 8.27979E-6
14-77275848-C-A p.Gly68Val missense ANGEL1 2 82058 2.4373E-5 41029 0 NA
14-77275849-C-A p.Gly68Trp missense ANGEL1 2 82078 2.43671E-5 41039 0 0.00100705
14-77275857-C-T p.Arg65Gln missense ANGEL1 36 81986 4.39099E-4 40993 0 3.31422E-4
14-77275858-G-A p.Arg65* stop_gained ANGEL1 1 81918 1.22073E-5 40959 0 2.48665E-5
14-77275866-T-C p.Gln62Arg missense ANGEL1 1 81978 1.21984E-5 40989 0 5.80364E-5
14-77275868-C-A p.Leu61Leu synonymous ANGEL1 2 81938 2.44087E-5 40969 0 3.98467E-6
14-77275874-G-A p.Gly59Gly synonymous ANGEL1 1 81798 1.22252E-5 40899 0 1.65956E-5
14-77275882-A-G p.Cys57Arg missense ANGEL1 1 81790 1.22264E-5 40895 0 3.98861E-6
14-77275897-G-C p.Pro52Ala missense ANGEL1 1 81426 1.22811E-5 40713 0 3.18492E-5
14-77275898-G-GC p.Glu53fs frameshift ANGEL1 1 81410 1.22835E-5 40705 0 NA
14-77275899-C-T p.Gly51Asp missense ANGEL1 1 81362 1.22908E-5 40681 0 NA
14-77275902-C-T p.Arg50Gln missense ANGEL1 4 81254 4.92283E-5 40627 0 6.36983E-5
14-77275908-G-A p.Ala48Val missense ANGEL1 1 81120 1.23274E-5 40560 0 NA
14-77275921-C-T p.Asp44Asn missense ANGEL1 3 80692 3.71784E-5 40346 0 3.40512E-4
14-77275922-G-A p.Gly43Gly synonymous ANGEL1 1 80512 1.24205E-5 40256 0 1.20185E-5
14-77275932-T-TG p.Gln40fs frameshift ANGEL1 1 80240 1.24626E-5 40120 0 NA
14-77275933-G-A p.Gln40* stop_gained ANGEL1 3 80188 3.74121E-5 40094 0 6.37024E-5
14-77275938-G-A p.Ser38Phe missense ANGEL1 1 79944 1.25088E-5 39972 0 8.03181E-6
14-77275949-C-T p.Ala34Ala synonymous ANGEL1 2 78998 2.53171E-5 39499 0 5.87455E-5
14-77275968-C-T p.Arg28Gln missense ANGEL1 1 76330 1.3101E-5 38165 0 4.04934E-6
14-77275969-G-A p.Arg28* stop_gained ANGEL1 68 76238 8.91944E-4 38119 0 0.00143751
14-77275973-T-C p.Thr26Thr synonymous ANGEL1 1 75642 1.32202E-5 37821 0 NA
14-77275976-G-C p.Phe25Leu missense ANGEL1 2 75168 2.66071E-5 37584 0 2.02958E-5
14-77275980-A-G p.Phe24Ser missense ANGEL1 200 74438 0.0026868 37219 1 0.005
14-77275982-A-G p.Ala23Ala synonymous ANGEL1 1 74078 1.34993E-5 37039 0 3.42349E-5
14-77275983-G-A p.Ala23Val missense ANGEL1 6 73656 8.14598E-5 36828 0 3.42955E-4
14-77275988-T-TG c.65-3_65-2insC splice_region ANGEL1 2 72594 2.75505E-5 36297 0 NA
14-77275994-G-A c.65-8C>T splice_region ANGEL1 1 71014 1.40817E-5 35507 0 6.37064E-5
14-77278649-T-C n.263A>G splice_region ANGEL1 1 24252 4.12337E-5 12126 0 3.18532E-5
14-77279101-C-A c.64+6G>T splice_region ANGEL1 1 53662 1.86352E-5 26831 0 NA
14-77279116-C-A p.Ala19Ser missense ANGEL1 1 53978 1.85261E-5 26989 0 1.72064E-5
14-77279118-C-T p.Arg18His missense ANGEL1 7 54054 1.295E-4 27027 0 3.18817E-5
14-77279119-G-A p.Arg18Cys missense ANGEL1 1 54378 1.83898E-5 27189 0 8.5831E-6
14-77279127-C-T p.Arg15His missense ANGEL1 2 53784 3.71858E-5 26892 0 4.78316E-4
14-77279128-G-A p.Arg15Cys missense ANGEL1 1 53884 1.85584E-5 26942 0 NA
14-77279129-C-T p.Thr14Thr synonymous ANGEL1 4 53818 7.43246E-5 26909 0 1.27592E-4
14-77279130-G-T p.Thr14Lys missense ANGEL1 5 53978 9.26303E-5 26989 0 2.66873E-4
14-77279135-C-A p.Pro12Pro synonymous ANGEL1 2 53844 3.71443E-5 26922 0 NA
14-77279138-C-T p.Leu11Leu synonymous ANGEL1 2 53650 3.72787E-5 26825 0 NA
14-77279144-C-T p.Leu9Leu synonymous ANGEL1 1 53264 1.87744E-5 26632 0 NA
14-77279153-C-G p.Leu6Phe missense ANGEL1 1 52282 1.9127E-5 26141 0 NA
14-77279157-C-A p.Cys5Phe missense ANGEL1 1 51480 1.9425E-5 25740 0 1.75997E-5
14-77279160-G-T p.Ser4* stop_gained ANGEL1 1 50718 1.97169E-5 25359 0 3.19081E-5
14-77279160-G-C p.Ser4Trp missense ANGEL1 2 50718 3.94337E-5 25359 0 NA
14-77279162-C-G p.Ala3Ala synonymous ANGEL1 75 50342 0.00148981 25171 3 0.00363729
14-77279164-C-T p.Ala3Thr missense ANGEL1 1 49684 2.01272E-5 24842 0 3.19183E-5
14-77279165-G-T p.Ile2Ile synonymous ANGEL1 1 49738 2.01054E-5 24869 0 NA
14-77279170-T-C p.Met1? start_lost ANGEL1 3 48698 6.16042E-5 24349 0 8.15439E-5
14-77279175-G-A c.-5C>T 5_prime_UTR_premature_start_codon_gain ANGEL1 2 47142 4.2425E-5 23571 0 5.66551E-5
14-77279182-C-A c.-12G>T 5_prime_UTR_premature_start_codon_gain ANGEL1 1 45566 2.19462E-5 22783 0 4.70385E-5
14-77279212-G-A c.-42C>T 5_prime_UTR_premature_start_codon_gain ANGEL1 2 42756 4.67771E-5 21378 0 1.1313E-5
14-77279215-G-A c.-45C>T 5_prime_UTR_premature_start_codon_gain ANGEL1 1 42538 2.35084E-5 21269 0 NA
14-77279243-G-A c.-73C>T 5_prime_UTR_premature_start_codon_gain ANGEL1 9 39682 2.26803E-4 19841 0 3.18959E-5