Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
8-108264099-C-T p.Arg493Gln missense ANGPT1 11 83258 1.32119E-4 41629 0 6.25E-4
8-108264111-G-A p.Thr489Ile missense ANGPT1 2 83270 2.40183E-5 41635 0 5.03525E-4
8-108264114-G-T p.Thr488Lys missense ANGPT1 1 83276 1.20083E-5 41638 0 NA
8-108264120-C-T p.Arg486His missense ANGPT1 1 83280 1.20077E-5 41640 0 8.23968E-6
8-108264120-C-G p.Arg486Pro missense ANGPT1 1 83280 1.20077E-5 41640 0 1.64794E-5
8-108264125-G-A p.Ser484Ser synonymous ANGPT1 4 83294 4.80227E-5 41647 0 1.19358E-5
8-108264141-T-C p.Lys479Arg missense ANGPT1 2 83302 2.4009E-5 41651 0 NA
8-108264169-G-T p.Leu470Met missense ANGPT1 1 83306 1.20039E-5 41653 0 1.72988E-4
8-108264180-T-A p.Asn466Ile missense ANGPT1 3 83300 3.60144E-5 41650 0 3.97785E-6
8-108264189-G-A p.Ala463Val missense ANGPT1 1 83284 1.20071E-5 41642 0 1.19353E-5
8-108264192-G-T p.Thr462Asn missense ANGPT1 1 83282 1.20074E-5 41641 0 3.18573E-5
8-108264200-C-T p.Met459Ile missense ANGPT1 8 83260 9.60846E-5 41630 0 7.56002E-5
8-108276442-G-A c.1333+7C>T splice_region ANGPT1 1 82784 1.20796E-5 41392 0 NA
8-108276446-T-C c.1333+3A>G splice_region ANGPT1 2 82812 2.41511E-5 41406 0 4.0057E-6
8-108276471-T-A p.Lys437Asn missense ANGPT1 1 82930 1.20584E-5 41465 0 NA
8-108276503-T-C p.Lys427Glu missense ANGPT1 1 82996 1.20488E-5 41498 0 8.24362E-6
8-108276504-A-G p.Thr426Thr synonymous ANGPT1 1 82994 1.20491E-5 41497 0 8.24334E-6
8-108276516-A-G p.Ala422Ala synonymous ANGPT1 4 83012 4.81858E-5 41506 0 3.29679E-5
8-108276521-C-T p.Gly421Ser missense ANGPT1 1 82984 1.20505E-5 41492 0 1.64834E-5
8-108276522-G-A p.His420His synonymous ANGPT1 4 82992 4.81974E-5 41496 0 1.59378E-4
8-108276558-A-C p.Thr408Thr synonymous ANGPT1 1 82910 1.20613E-5 41455 0 NA
8-108276560-T-A p.Thr408Ser missense ANGPT1 1 82846 1.20706E-5 41423 0 NA
8-108276582-G-C c.1203-3C>G splice_region ANGPT1 1 82548 1.21142E-5 41274 0 NA
8-108276585-G-A c.1203-6C>T splice_region ANGPT1 1 82462 1.21268E-5 41231 0 NA
8-108296921-C-T p.Lys397Lys synonymous ANGPT1 5 81536 6.13226E-5 40768 0 4.46628E-4
8-108296934-A-G p.Ile393Thr missense ANGPT1 2 81214 2.46263E-5 40607 0 NA
8-108296963-T-C p.Arg383Arg synonymous ANGPT1 3 83006 3.6142E-5 41503 0 3.29995E-5
8-108296964-C-T p.Arg383Gln missense ANGPT1 293 82998 0.00353021 41499 3 0.0226586
8-108296965-G-C p.Arg383Gly missense ANGPT1 2 83034 2.40865E-5 41517 0 7.97773E-6
8-108296969-C-A p.Gly381Gly synonymous ANGPT1 30 83056 3.61202E-4 41528 0 3.95942E-4
8-108296970-C-T p.Gly381Glu missense ANGPT1 1 83060 1.20395E-5 41530 0 8.24837E-6
8-108297005-C-G p.Gln369His missense ANGPT1 51 83062 6.13999E-4 41531 0 0.00151057
8-108297015-C-T p.Ser366Asn missense ANGPT1 1 83028 1.20441E-5 41514 0 8.25491E-6
8-108297059-G-A p.Ser351Ser synonymous ANGPT1 4 82338 4.85802E-5 41169 0 6.83736E-5
8-108297060-G-A p.Ser351Phe missense ANGPT1 1 82350 1.21433E-5 41175 0 NA
8-108297080-G-A c.1036-4C>T splice_region ANGPT1 19 81776 2.32342E-4 40888 0 5.42196E-4
8-108306165-A-G p.Met345Thr missense+splice_region ANGPT1 1 82822 1.20741E-5 41411 0 NA
8-108306210-T-C p.Glu330Gly missense ANGPT1 1 83144 1.20273E-5 41572 0 NA
8-108306256-T-C p.Asn315Asp missense ANGPT1 1 82942 1.20566E-5 41471 0 NA
8-108315462-T-C c.933+6A>G splice_region ANGPT1 2442 82916 0.0294515 41458 98 0.0675
8-108315462-T-G c.933+6A>C splice_region ANGPT1 5 82950 6.02773E-5 41475 0 6.38733E-5
8-108315474-G-C p.Pro309Pro synonymous ANGPT1 2 82962 2.41074E-5 41481 0 NA
8-108315480-T-C p.Pro307Pro synonymous ANGPT1 1 82972 1.20523E-5 41486 0 3.18939E-5
8-108315508-A-G p.Ile298Thr missense ANGPT1 1 82968 1.20528E-5 41484 0 NA
8-108315511-C-T p.Gly297Glu missense ANGPT1 1 82956 1.20546E-5 41478 0 4.00067E-6
8-108315530-C-T p.Ala291Thr missense ANGPT1 1 82914 1.20607E-5 41457 0 NA
8-108315540-A-T p.Asp287Glu missense ANGPT1 1 82904 1.20621E-5 41452 0 NA
8-108315571-T-G p.Glu277Ala missense ANGPT1 1 82624 1.2103E-5 41312 0 NA
8-108315576-T-A p.Lys275Asn missense ANGPT1 1 82688 1.20937E-5 41344 0 8.27363E-6
8-108315583-C-T p.Gly273Glu missense ANGPT1 1 82562 1.21121E-5 41281 0 6.62153E-5
8-108315588-T-C p.Leu271Leu synonymous ANGPT1 2 82308 2.4299E-5 41154 0 1.65736E-5
8-108315589-AGT-A p.Leu270fs frameshift ANGPT1 2 82372 2.42801E-5 41186 0 4.63087E-6
8-108315595-ACTGC-A c.806-4_806-1delGCAG splice_acceptor ANGPT1 10 82096 1.21809E-4 41048 0 1.86331E-4
8-108315595-ACTG-A c.806-3_806-1delCAG splice_acceptor ANGPT1 1 82120 1.21773E-5 41060 0 NA
8-108315596-C-A c.806-1G>T splice_acceptor ANGPT1 1 81960 1.22011E-5 40980 0 1.5018E-5
8-108315597-TGC-T c.806-4_806-3delGC splice_region ANGPT1 1 81842 1.22187E-5 40921 0 3.08097E-5
8-108315598-G-GA c.806-4_806-3insT splice_region ANGPT1 19 81618 2.32792E-4 40809 0 8.9898E-4
8-108315598-GC-G c.806-4delG splice_region ANGPT1 1 81678 1.22432E-5 40839 0 8.6798E-5
8-108315599-C-CA c.806-5_806-4insT splice_region ANGPT1 19634 75518 0.259991 37759 521 0.407449
8-108315599-C-CAA c.806-5_806-4insTT splice_region ANGPT1 1751 81462 0.0214947 40731 36 0.0681597
8-108315599-CA-C c.806-5delT splice_region ANGPT1 1773 72604 0.0244201 36302 1 0.193863
8-108315599-C-CAAA c.806-5_806-4insTTT splice_region ANGPT1 214 81600 0.00262255 40800 5 0.0105648
8-108315599-C-A c.806-4G>T splice_region ANGPT1 47 81452 5.77027E-4 40726 0 0.0133648
8-108315599-C-CAAAA c.806-5_806-4insTTTT splice_region ANGPT1 23 81620 2.81794E-4 40810 1 3.24632E-4
8-108315599-CAA-C c.806-6_806-5delTT splice_region ANGPT1 48 81446 5.89348E-4 40723 0 0.00922588
8-108315599-C-CAAAAAAAAAA c.806-5_806-4insTTTTTTTTTT splice_region ANGPT1 1 81626 1.2251E-5 40813 0 NA
8-108315599-CAAA-C c.806-7_806-5delTTT splice_region ANGPT1 2 81616 2.4505E-5 40808 0 NA
8-108315599-C-CAAAAAA c.806-5_806-4insTTTTTT splice_region ANGPT1 4 81624 4.90052E-5 40812 0 NA
8-108315599-C-CAAAAAAA c.806-5_806-4insTTTTTTT splice_region ANGPT1 1 81626 1.2251E-5 40813 0 NA
8-108315599-C-CAAAAA c.806-5_806-4insTTTTT splice_region ANGPT1 2 81626 2.4502E-5 40813 0 NA
8-108334124-C-T p.Val270Ile missense+splice_region ANGPT1 1 82938 1.20572E-5 41469 0 NA
8-108334158-G-C p.Val258Val synonymous ANGPT1 1 83106 1.20328E-5 41553 0 NA
8-108334162-G-T p.Thr257Lys missense ANGPT1 1304 83110 0.01569 41555 23 0.0130916
8-108334169-T-C p.Met255Val missense ANGPT1 12 83144 1.44328E-4 41572 0 9.55353E-5
8-108334179-T-C p.Gln251Gln synonymous ANGPT1 11 83140 1.32307E-4 41570 0 8.2394E-5
8-108334184-GC-TT p.LysGln249LysLys missense ANGPT1 9 83134 1.08259E-4 41567 0 NA
8-108334185-C-T p.Lys249Lys synonymous ANGPT1 12 83132 1.44349E-4 41566 0 1.71105E-4
8-108334192-A-G p.Leu247Pro missense ANGPT1 5 83150 6.01323E-5 41575 0 1.59266E-4
8-108334193-G-A p.Leu247Phe missense ANGPT1 1 83158 1.20253E-5 41579 0 3.97902E-6
8-108334198-C-G p.Ser245Thr missense ANGPT1 1 83148 1.20267E-5 41574 0 8.23886E-6
8-108334198-CTGTT-C p.Asn244fs frameshift ANGPT1 1 83148 1.20267E-5 41574 0 NA
8-108334202-T-C p.Asn244Asp missense ANGPT1 4 83150 4.81058E-5 41575 0 1.19367E-5
8-108334202-T-TAACA p.Asn244fs frameshift ANGPT1 1 83150 1.20265E-5 41575 0 NA
8-108334212-A-G p.Ala240Ala synonymous ANGPT1 1 83140 1.20279E-5 41570 0 3.18573E-5
8-108334242-G-A p.Ile230Ile synonymous ANGPT1 1 83186 1.20213E-5 41593 0 NA
8-108334248-A-G p.Tyr228Tyr synonymous ANGPT1 2 83186 2.40425E-5 41593 0 2.38734E-5
8-108334251-T-C p.Thr227Thr synonymous ANGPT1 1 83194 1.20201E-5 41597 0 NA
8-108334258-C-T p.Arg225His missense ANGPT1 7 83184 8.41508E-5 41592 0 1.91314E-4
8-108334259-G-A p.Arg225Cys missense ANGPT1 2 83186 2.40425E-5 41593 0 4.94731E-5
8-108334261-G-A p.Thr224Ile missense ANGPT1 1 83180 1.20221E-5 41590 0 3.18735E-5
8-108334277-G-C p.Leu219Val missense ANGPT1 3 83176 3.60681E-5 41588 0 8.25341E-6
8-108334277-G-A p.Leu219Phe missense ANGPT1 2 83176 2.40454E-5 41588 0 NA
8-108334279-T-G p.Asn218Thr missense ANGPT1 1 83166 1.20241E-5 41583 0 3.97921E-6
8-108334285-T-C p.Lys216Arg missense ANGPT1 1 83166 1.20241E-5 41583 0 6.37064E-5
8-108334287-C-A p.Glu215Asp missense ANGPT1 2 83170 2.40471E-5 41585 0 3.18532E-5
8-108334289-C-T p.Glu215Lys missense ANGPT1 1 83158 1.20253E-5 41579 0 NA
8-108334296-T-A p.Leu212Phe missense ANGPT1 1 83158 1.20253E-5 41579 0 8.27431E-6
8-108334305-C-T p.Leu209Leu synonymous ANGPT1 1 83152 1.20262E-5 41576 0 8.30261E-6
8-108334313-C-T p.Glu207Lys missense ANGPT1 1 83114 1.20317E-5 41557 0 3.9834E-6
8-108334350-T-C c.-19A>G 5_prime_UTR_premature_start_codon_gain ANGPT1 2 82804 2.41534E-5 41402 0 NA
8-108334353-T-A p.Leu193Phe missense ANGPT1 1 82756 1.20837E-5 41378 0 1.96603E-5
8-108334360-C-A c.576-4G>T splice_region ANGPT1 4 82556 4.8452E-5 41278 0 3.19714E-5
8-108334363-G-A c.576-7C>T splice_region ANGPT1 1 82470 1.21256E-5 41235 0 NA
8-108348389-A-G p.His188His synonymous ANGPT1 1 82944 1.20563E-5 41472 0 8.43277E-6
8-108348397-T-G p.Lys186Gln missense ANGPT1 1 83044 1.20418E-5 41522 0 NA
8-108348400-A-G c.-48T>C 5_prime_UTR_premature_start_codon_gain ANGPT1 1 83056 1.20401E-5 41528 0 NA
8-108348412-T-C p.Thr181Ala missense ANGPT1 5 83136 6.01424E-5 41568 0 3.18593E-5
8-108348413-C-A p.Gln180His missense ANGPT1 1 83138 1.20282E-5 41569 0 6.37552E-5
8-108348416-T-C p.Gln179Gln synonymous ANGPT1 2 83152 2.40523E-5 41576 0 2.51762E-5
8-108348438-T-A p.Lys172Met missense ANGPT1 1 83164 1.20244E-5 41582 0 NA
8-108348458-C-T p.Glu165Glu synonymous ANGPT1 2 83130 2.40587E-5 41565 0 8.51441E-6
8-108348458-C-A p.Glu165Asp missense ANGPT1 1 83130 1.20294E-5 41565 0 NA
8-108348464-C-T p.Leu163Leu synonymous ANGPT1 1 83110 1.20322E-5 41555 0 4.09283E-6
8-108348466-G-C p.Leu163Val missense ANGPT1 2 83118 2.40622E-5 41559 0 NA
8-108348489-T-A p.Gln155Leu missense ANGPT1 1 82944 1.20563E-5 41472 0 8.79987E-6
8-108348501-TTAAGA-T c.454-7_454-3delTCTTA splice_region ANGPT1 8 82750 9.66767E-5 41375 0 3.50363E-4
8-108348607-T-G c.-148+5A>C splice_region ANGPT1 1 76516 1.30692E-5 38258 0 NA
8-108348607-T-C c.-148+5A>G splice_region ANGPT1 2 76516 2.61383E-5 38258 0 3.19142E-5
8-108348675-C-T c.-211G>A 5_prime_UTR_premature_start_codon_gain ANGPT1 1 67536 1.48069E-5 33768 0 NA
8-108348690-G-A c.-226C>T 5_prime_UTR_premature_start_codon_gain ANGPT1 6 63284 9.48107E-5 31642 0 2.24244E-4
8-108348690-G-C c.-226C>G 5_prime_UTR_premature_start_codon_gain ANGPT1 2 63284 3.16036E-5 31642 0 3.20349E-5
8-108348714-A-C c.-250T>G 5_prime_UTR_premature_start_codon_gain ANGPT1 5 54652 9.1488E-5 27326 0 1.92098E-4
8-108348721-G-A c.-257C>T 5_prime_UTR_premature_start_codon_gain ANGPT1 1 51798 1.93058E-5 25899 0 NA
8-108359176-C-T p.Glu149Glu synonymous ANGPT1 1 82888 1.20645E-5 41444 0 NA
8-108359191-CTT-C p.Lys144fs frameshift ANGPT1 5 83046 6.02076E-5 41523 0 NA
8-108359194-T-G p.Arg143Ser missense ANGPT1 5 83062 6.0196E-5 41531 0 NA
8-108359205-C-T p.Glu140Lys missense ANGPT1 1 83144 1.20273E-5 41572 0 NA
8-108359228-G-T p.Thr132Asn missense ANGPT1 2 83194 2.40402E-5 41597 0 8.24389E-6
8-108359237-T-C p.Glu129Gly missense ANGPT1 1 83208 1.20181E-5 41604 0 3.97985E-6
8-108359254-G-A p.His123His synonymous ANGPT1 1 83212 1.20175E-5 41606 0 7.95944E-6
8-108359254-G-T p.His123Gln missense ANGPT1 1 83212 1.20175E-5 41606 0 3.97972E-6
8-108359266-T-A p.Ala119Ala synonymous ANGPT1 1 83244 1.20129E-5 41622 0 3.98206E-6
8-108359266-T-C p.Ala119Ala synonymous ANGPT1 2 83244 2.40258E-5 41622 0 8.24362E-6
8-108359268-C-A p.Ala119Ser missense ANGPT1 4 83240 4.80538E-5 41620 0 6.36821E-5
8-108359274-G-T p.Gln117Lys missense ANGPT1 1 83234 1.20143E-5 41617 0 3.98023E-6
8-108359274-G-C p.Gln117Glu missense ANGPT1 1 83234 1.20143E-5 41617 0 NA
8-108359279-A-G p.Ile115Thr missense ANGPT1 2 83232 2.40292E-5 41616 0 NA
8-108359293-C-T p.Ser110Ser synonymous ANGPT1 1 83220 1.20163E-5 41610 0 1.64948E-5
8-108359294-G-A p.Ser110Leu missense ANGPT1 2 83222 2.40321E-5 41611 0 5.97562E-5
8-108359313-T-C p.Ile104Val missense ANGPT1 1 83178 1.20224E-5 41589 0 6.37024E-5
8-108359329-C-T c.298-4G>A splice_region ANGPT1 2 83072 2.40755E-5 41536 0 NA
8-108359332-G-A c.298-7C>T splice_region ANGPT1 1 83076 1.20372E-5 41538 0 6.3678E-5
8-108509502-C-G p.Gln95His missense ANGPT1 12 82478 1.45493E-4 41239 0 5.03525E-4
8-108509502-C-T p.Gln95Gln synonymous ANGPT1 1 82478 1.21244E-5 41239 0 3.99543E-6
8-108509517-C-A p.Met90Ile missense ANGPT1 1 82786 1.20793E-5 41393 0 1.65177E-5
8-108509544-C-G p.Gln81His missense ANGPT1 1 83084 1.2036E-5 41542 0 NA
8-108509545-T-C p.Gln81Arg missense ANGPT1 4 83088 4.81417E-5 41544 0 3.18405E-5
8-108509554-A-G p.Phe78Ser missense ANGPT1 1 83154 1.20259E-5 41577 0 7.95906E-6
8-108509559-C-T p.Pro76Pro synonymous ANGPT1 276 83168 0.00331858 41584 0 0.00678387
8-108509559-C-A p.Pro76Pro synonymous ANGPT1 5 83178 6.0112E-5 41589 0 3.29571E-5
8-108509565-C-T p.Val74Val synonymous ANGPT1 1 83202 1.20189E-5 41601 0 3.97905E-6
8-108509576-C-A p.Ala71Ser missense ANGPT1 1 83258 1.20109E-5 41629 0 3.9782E-6
8-108509588-G-A p.Leu67Leu synonymous ANGPT1 1 83294 1.20057E-5 41647 0 2.4715E-5
8-108509592-G-A p.Asn65Asn synonymous ANGPT1 1 83290 1.20062E-5 41645 0 2.47145E-5
8-108509603-A-G p.Tyr62His missense ANGPT1 1 83304 1.20042E-5 41652 0 NA
8-108509613-C-T p.Thr58Thr synonymous ANGPT1 3 83316 3.60075E-5 41658 0 3.1841E-5
8-108509631-G-T p.Gly52Gly synonymous ANGPT1 372 83320 0.00446471 41660 2 0.00767369
8-108509633-C-T p.Gly52Ser missense ANGPT1 5 83332 6.0001E-5 41666 0 1.64761E-5
8-108509644-G-C p.Pro48Arg missense ANGPT1 1 83340 1.1999E-5 41670 0 1.64766E-5
8-108509655-A-G p.Thr44Thr synonymous ANGPT1 1 83340 1.1999E-5 41670 0 3.97709E-6
8-108509660-A-G p.Tyr43His missense ANGPT1 1 83320 1.20019E-5 41660 0 NA
8-108509682-C-T p.Arg35Arg synonymous ANGPT1 1 83330 1.20005E-5 41665 0 NA
8-108509685-G-A p.Asn34Asn synonymous ANGPT1 12 83324 1.44016E-4 41662 0 5.03525E-4
8-108509687-T-C p.Asn34Asp missense ANGPT1 7 83328 8.40054E-5 41664 0 3.97712E-5
8-108509719-C-T p.Arg23His missense ANGPT1 3 83316 3.60075E-5 41658 0 1.65071E-5
8-108509729-T-C p.Ser20Gly missense ANGPT1 2 83316 2.4005E-5 41658 0 NA
8-108509746-A-T p.Leu14Gln missense ANGPT1 1 83300 1.20048E-5 41650 0 NA
8-108509747-G-C p.Leu14Val missense ANGPT1 1 83298 1.20051E-5 41649 0 NA
8-108509759-G-A p.Leu10Phe missense ANGPT1 7 83272 8.40619E-5 41636 0 8.58708E-6
8-108509770-G-A p.Ser6Phe missense ANGPT1 1 83234 1.20143E-5 41617 0 8.69308E-6
8-108510004-G-A c.-218C>T 5_prime_UTR_premature_start_codon_gain ANGPT1 6 37490 1.60043E-4 18745 0 3.18817E-5