Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
19-10203282-G-A p.Arg466Trp missense ANGPTL6 2 80800 2.47525E-5 40400 0 2.55489E-5
19-10203286-G-A p.Leu464Leu synonymous ANGPTL6 1 80910 1.23594E-5 40455 0 NA
19-10203300-T-A p.Lys460* stop_gained ANGPTL6 2 81212 2.46269E-5 40606 0 8.3325E-6
19-10203306-G-A p.Leu458Phe missense ANGPTL6 1 81394 1.22859E-5 40697 0 8.30165E-6
19-10203315-C-T p.Ala455Thr missense ANGPTL6 1 81672 1.22441E-5 40836 0 2.48402E-5
19-10203324-G-A p.Arg452Cys missense ANGPTL6 5 81942 6.10188E-5 40971 0 8.43889E-5
19-10203328-C-G p.Glu450Asp missense ANGPTL6 2 82074 2.43683E-5 41037 0 NA
19-10203337-G-A p.Tyr447Tyr synonymous ANGPTL6 1 82202 1.21652E-5 41101 0 NA
19-10203341-ACACCATCCTGGTAGCGGCTTCGGTAGTGGCCGCCGTGGTGCCACACACCGTTGAGGTTGGAGTGGGCACAGGCATGGTAC-A p.Trp419fs frameshift ANGPTL6 2 82302 2.43007E-5 41151 0 NA
19-10203343-A-C p.Gly445Gly synonymous ANGPTL6 1 82326 1.21468E-5 41163 0 NA
19-10203356-C-T p.Arg441His missense ANGPTL6 5 82286 6.07637E-5 41143 0 0.00125
19-10203357-G-A p.Arg441Cys missense ANGPTL6 1 82352 1.2143E-5 41176 0 2.00753E-5
19-10203357-G-C p.Arg441Gly missense ANGPTL6 1 82352 1.2143E-5 41176 0 NA
19-10203363-G-A p.Arg439* stop_gained ANGPTL6 3 82330 3.64387E-5 41165 0 7.43359E-5
19-10203372-C-T p.Gly436Ser missense ANGPTL6 1 82388 1.21377E-5 41194 0 2.4095E-5
19-10203373-G-A p.Gly435Gly synonymous ANGPTL6 1 82372 1.214E-5 41186 0 4.0159E-5
19-10203373-GC-G p.Gly435fs frameshift ANGPTL6 4 82372 4.85602E-5 41186 0 NA
19-10203375-C-T p.Gly435Ser missense ANGPTL6 9 82414 1.09205E-4 41207 1 5.78551E-4
19-10203376-G-A p.His434His synonymous ANGPTL6 6 82388 7.28261E-5 41194 0 9.09181E-5
19-10203390-C-T p.Gly430Ser missense ANGPTL6 1 82754 1.2084E-5 41377 0 6.25E-4
19-10203391-G-A p.Asn429Asn synonymous ANGPTL6 4 82740 4.83442E-5 41370 0 5.04032E-4
19-10203392-T-C p.Asn429Ser missense ANGPTL6 2 82762 2.41657E-5 41381 0 NA
19-10203400-G-A p.Ser426Ser synonymous ANGPTL6 2 82820 2.41488E-5 41410 0 NA
19-10203416-T-C p.His421Arg missense ANGPTL6 2 82914 2.41214E-5 41457 0 6.25E-4
19-10203418-G-C p.Tyr420* stop_gained ANGPTL6 1 82918 1.20601E-5 41459 0 NA
19-10203421-C-A p.Trp419Cys missense ANGPTL6 4 82896 4.82532E-5 41448 0 8.38659E-6
19-10203422-C-T p.Trp419* stop_gained ANGPTL6 1 82894 1.20636E-5 41447 0 NA
19-10203432-C-G p.Gly416Arg missense ANGPTL6 20 82884 2.41301E-4 41442 0 4.46542E-4
19-10203434-C-T p.Arg415Gln missense ANGPTL6 10 82880 1.20656E-4 41440 0 5.04541E-4
19-10203435-G-A p.Arg415Trp missense ANGPTL6 4 82856 4.82765E-5 41428 0 6.38366E-5
19-10203440-T-C p.Tyr413Cys missense ANGPTL6 1 82884 1.20651E-5 41442 0 NA
19-10203453-T-C p.Asn409Asp missense+splice_region ANGPTL6 1 82766 1.20823E-5 41383 0 8.96925E-6
19-10203462-GGAGA-G c.1223-11_1223-8delTCTC splice_region ANGPTL6 2 82576 2.42201E-5 41288 0 6.82082E-5
19-10204025-C-T p.Gly408Ser missense+splice_region ANGPTL6 1 83134 1.20288E-5 41567 0 NA
19-10204032-G-A p.Ser405Ser synonymous ANGPTL6 1 83164 1.20244E-5 41582 0 2.49871E-5
19-10204034-A-C p.Ser405Ala missense ANGPTL6 1 83176 1.20227E-5 41588 0 1.59422E-5
19-10204039-C-T p.Arg403Gln missense ANGPTL6 1 83182 1.20218E-5 41591 0 7.96762E-6
19-10204045-C-T p.Arg401Lys missense ANGPTL6 1 83224 1.20158E-5 41612 0 NA
19-10204052-C-T p.Val399Met missense ANGPTL6 2 83230 2.40298E-5 41615 0 6.61244E-5
19-10204065-C-T p.Lys394Lys synonymous ANGPTL6 1 83258 1.20109E-5 41629 0 NA
19-10204068-G-C p.Asp393Glu missense ANGPTL6 1 83270 1.20091E-5 41635 0 1.98848E-5
19-10204068-GT-G p.Asp393fs frameshift ANGPTL6 1 83270 1.20091E-5 41635 0 4.12385E-5
19-10204081-G-GA p.Ser389fs frameshift ANGPTL6 9 83258 1.08098E-4 41629 0 7.95342E-6
19-10204087-G-A p.Ser387Phe missense ANGPTL6 2 83256 2.40223E-5 41628 0 3.97668E-6
19-10204099-T-C p.Asp383Gly missense ANGPTL6 2 83226 2.4031E-5 41613 0 3.18613E-5
19-10204104-A-C p.His381Gln missense ANGPTL6 1 83228 1.20152E-5 41614 0 3.97662E-6
19-10204110-C-T p.Gln379Gln synonymous ANGPTL6 1 83204 1.20187E-5 41602 0 NA
19-10204116-A-G p.Leu377Leu synonymous ANGPTL6 1 83218 1.20166E-5 41609 0 NA
19-10204120-C-T p.Arg376Gln missense ANGPTL6 1 83226 1.20155E-5 41613 0 NA
19-10204126-C-T p.Arg374His missense ANGPTL6 3 83214 3.60516E-5 41607 0 2.78377E-5
19-10204127-G-A p.Arg374Cys missense ANGPTL6 5 83226 6.00774E-5 41613 0 3.18512E-5
19-10204136-C-T p.Asp371Asn missense ANGPTL6 2 83202 2.40379E-5 41601 0 3.18134E-5
19-10204142-C-T p.Glu369Lys missense ANGPTL6 1 83190 1.20207E-5 41595 0 5.03525E-4
19-10204143-G-A p.Pro368Pro synonymous ANGPTL6 631 83160 0.00758778 41580 6 0.00723072
19-10204144-G-A p.Pro368Leu missense ANGPTL6 1 83180 1.20221E-5 41590 0 1.19309E-5
19-10204159-C-A p.Gly363Val missense ANGPTL6 1 83142 1.20276E-5 41571 0 1.19307E-5
19-10204169-G-A p.His360Tyr missense ANGPTL6 3 83116 3.60941E-5 41558 0 3.9776E-6
19-10204174-C-T p.Arg358His missense ANGPTL6 2 83076 2.40743E-5 41538 0 3.18264E-5
19-10204175-G-A p.Arg358Cys missense ANGPTL6 921 83062 0.0110881 41531 8 0.012482
19-10204183-C-T p.Arg355His missense ANGPTL6 2 83032 2.40871E-5 41516 0 4.13798E-5
19-10204184-G-A p.Arg355Cys missense ANGPTL6 4 83000 4.81928E-5 41500 0 5.03525E-4
19-10204185-G-GC p.Arg355fs frameshift ANGPTL6 2 82976 2.41034E-5 41488 0 1.99352E-4
19-10204185-GC-G p.Gly354fs frameshift ANGPTL6 1 82996 1.20488E-5 41498 0 NA
19-10204185-G-C p.Gly354Gly synonymous ANGPTL6 1 82996 1.20488E-5 41498 0 NA
19-10204187-C-A p.Gly354Cys missense ANGPTL6 1 83008 1.2047E-5 41504 0 NA
19-10204192-C-A p.Trp352Leu missense ANGPTL6 1 83004 1.20476E-5 41502 0 1.19406E-5
19-10204192-C-T p.Trp352* stop_gained ANGPTL6 3 83004 3.61428E-5 41502 0 NA
19-10204196-C-T p.Asp351Asn missense ANGPTL6 4 82962 4.82148E-5 41481 0 NA
19-10204203-G-A p.Leu348Leu synonymous ANGPTL6 3 82932 3.61742E-5 41466 0 NA
19-10204215-C-G p.Glu344Asp missense ANGPTL6 2 82866 2.41354E-5 41433 0 1.66817E-5
19-10204228-C-T p.Arg340His missense ANGPTL6 10 82808 1.20761E-4 41404 0 6.39683E-5
19-10204229-G-A p.Arg340Cys missense ANGPTL6 11 82792 1.32863E-4 41396 0 9.55414E-5
19-10204230-G-A p.Ser339Ser synonymous ANGPTL6 512 82758 0.00618671 41379 17 0.0144757
19-10204232-T-C p.Ser339Gly missense ANGPTL6 1 82790 1.20788E-5 41395 0 NA
19-10204233-G-C p.Thr338Thr synonymous ANGPTL6 1 82790 1.20788E-5 41395 0 NA
19-10204239-C-G p.Gln336His missense ANGPTL6 1 82706 1.2091E-5 41353 0 3.18471E-5
19-10204243-T-C p.Tyr335Cys missense ANGPTL6 3 82706 3.62731E-5 41353 0 5.92879E-5
19-10204243-T-TA p.Tyr335fs frameshift ANGPTL6 1 82706 1.2091E-5 41353 0 4.23485E-5
19-10204247-C-T p.Val334Met missense ANGPTL6 2 82660 2.41955E-5 41330 0 0.00151057
19-10204275-G-A p.Asp324Asp synonymous ANGPTL6 6 82862 7.24096E-5 41431 0 5.04541E-4
19-10204275-G-T p.Asp324Glu missense ANGPTL6 1 82862 1.20683E-5 41431 0 NA
19-10204282-C-T p.Arg322Gln missense ANGPTL6 4 82860 4.82742E-5 41430 0 4.21429E-5
19-10204294-G-C p.Ala318Gly missense+splice_region ANGPTL6 1 82888 1.20645E-5 41444 0 NA
19-10204294-G-T p.Ala318Glu missense+splice_region ANGPTL6 1 82888 1.20645E-5 41444 0 NA
19-10204298-G-A c.952-3C>T splice_region ANGPTL6 1 82874 1.20665E-5 41437 0 1.68725E-5
19-10204301-A-G c.952-6T>C splice_region ANGPTL6 1 82868 1.20674E-5 41434 0 NA
19-10204361-G-A c.951+8C>T splice_region ANGPTL6 1 83190 1.20207E-5 41595 0 3.98067E-6
19-10204363-G-A c.951+6C>T splice_region ANGPTL6 1 83192 1.20204E-5 41596 0 NA
19-10204391-AAG-A p.Phe310fs frameshift ANGPTL6 1 83246 1.20126E-5 41623 0 NA
19-10204394-A-T p.Phe309Tyr missense ANGPTL6 2 83250 2.4024E-5 41625 0 NA
19-10204397-T-C p.Asn308Ser missense ANGPTL6 6 83254 7.20686E-5 41627 0 5.03525E-4
19-10204397-T-A p.Asn308Ile missense ANGPTL6 1 83254 1.20114E-5 41627 0 NA
19-10204410-C-G p.Asp304His missense ANGPTL6 1 83264 1.201E-5 41632 0 NA
19-10204412-T-G p.Gln303Pro missense ANGPTL6 4 83260 4.80423E-5 41630 0 NA
19-10204413-G-A p.Gln303* stop_gained ANGPTL6 2 83260 2.40211E-5 41630 0 NA
19-10204415-C-T p.Arg302Lys missense ANGPTL6 1 83266 1.20097E-5 41633 0 3.1841E-5
19-10204418-C-T p.Arg301Gln missense ANGPTL6 1 83270 1.20091E-5 41635 0 1.64742E-5
19-10204419-G-A p.Arg301Trp missense ANGPTL6 1 83266 1.20097E-5 41633 0 9.55536E-5
19-10204429-A-G p.Thr297Thr synonymous ANGPTL6 2 83256 2.40223E-5 41628 0 NA
19-10204440-C-T p.Gly294Arg missense ANGPTL6 2 83258 2.40217E-5 41629 0 3.18451E-5
19-10204463-C-T p.Trp286* stop_gained ANGPTL6 1 83284 1.20071E-5 41642 0 NA
19-10204469-G-C p.Ser284* stop_gained ANGPTL6 51 83288 6.12333E-4 41644 0 8.59927E-4
19-10204472-A-G p.Val283Ala missense ANGPTL6 1 83284 1.20071E-5 41642 0 NA
19-10204476-C-T p.Val282Ile missense ANGPTL6 24 83274 2.88205E-4 41637 0 6.25E-4
19-10204477-G-A p.His281His synonymous ANGPTL6 1 83270 1.20091E-5 41635 0 9.55718E-5
19-10204481-C-T p.Arg280His missense ANGPTL6 3 83254 3.60343E-5 41627 0 1.64794E-5
19-10204482-G-A p.Arg280Cys missense ANGPTL6 6 83242 7.2079E-5 41621 0 5.76777E-5
19-10204490-C-T p.Arg277Gln missense+splice_region ANGPTL6 3 83242 3.60395E-5 41621 0 6.25E-4
19-10204491-G-A p.Arg277* stop_gained ANGPTL6 6 83242 7.2079E-5 41621 0 5.03525E-4
19-10204491-G-T p.Arg277Arg splice_region+synonymous ANGPTL6 1 83242 1.20132E-5 41621 0 7.97435E-6
19-10204494-G-A p.Leu276Leu synonymous ANGPTL6 14 83238 1.68192E-4 41619 0 2.5481E-4
19-10204500-A-ACACT p.Tyr274fs frameshift ANGPTL6 1 83220 1.20163E-5 41610 0 NA
19-10204501-C-A p.Val273Val synonymous ANGPTL6 1 83222 1.20161E-5 41611 0 3.99116E-6
19-10204529-C-A p.Arg264Leu missense ANGPTL6 34 83070 4.09293E-4 41535 0 3.26702E-4
19-10204529-C-T p.Arg264His missense ANGPTL6 1 83074 1.20375E-5 41537 0 4.03336E-6
19-10204530-G-A p.Arg264Cys missense ANGPTL6 9 83086 1.08321E-4 41543 0 2.86679E-4
19-10204531-G-C p.Ala263Ala synonymous ANGPTL6 1 83092 1.20349E-5 41546 0 3.18532E-5
19-10204553-G-A p.Pro256Leu missense ANGPTL6 6 82940 7.23414E-5 41470 0 2.8529E-5
19-10204557-CTGTGGG-C c.764-7_764-2delCCCACA splice_acceptor ANGPTL6 1 82898 1.2063E-5 41449 0 NA
19-10205427-G-A c.763+7C>T splice_region ANGPTL6 3 74638 4.0194E-5 37319 0 1.59337E-5
19-10205430-T-C c.763+4A>G splice_region ANGPTL6 1 75414 1.32601E-5 37707 0 6.36902E-5
19-10205437-C-G p.Val254Leu missense ANGPTL6 1 76064 1.31468E-5 38032 0 NA
19-10205438-A-C p.Pro253Pro synonymous ANGPTL6 2 76088 2.62854E-5 38044 0 3.98121E-6
19-10205453-C-T p.Ala248Ala synonymous ANGPTL6 4 77060 5.19076E-5 38530 0 6.25E-4
19-10205457-G-A p.Pro247Leu missense ANGPTL6 1 77974 1.28248E-5 38987 0 3.18431E-5
19-10205469-G-A p.Pro243Leu missense ANGPTL6 4 78906 5.06932E-5 39453 0 1.27364E-4
19-10205480-A-G p.Ala239Ala synonymous ANGPTL6 4 79626 5.02348E-5 39813 0 3.18532E-5
19-10205491-C-T p.Glu236Lys missense ANGPTL6 1 80186 1.2471E-5 40093 0 3.18512E-5
19-10205494-G-C p.Gln235Glu missense ANGPTL6 2 80292 2.49091E-5 40146 0 8.24063E-6
19-10205498-T-C p.Arg233Arg synonymous ANGPTL6 1 80466 1.24276E-5 40233 0 NA
19-10205505-G-A p.Thr231Ile missense ANGPTL6 1 80600 1.24069E-5 40300 0 NA
19-10205549-G-A p.Thr216Thr synonymous ANGPTL6 4 81310 4.91944E-5 40655 0 7.96172E-6
19-10205553-T-C p.Asp215Gly missense ANGPTL6 3 81322 3.68904E-5 40661 0 6.36983E-5
19-10205565-C-G p.Gly211Ala missense ANGPTL6 1 81440 1.2279E-5 40720 0 2.51311E-5
19-10205574-C-T p.Arg208His missense ANGPTL6 1 81540 1.22639E-5 40770 0 4.0032E-6
19-10205575-G-A p.Arg208Cys missense ANGPTL6 1 81516 1.22675E-5 40758 0 6.36943E-5
19-10205576-G-A p.Val207Val synonymous ANGPTL6 2 81594 2.45116E-5 40797 0 2.00266E-5
19-10205579-C-T p.Pro206Pro synonymous ANGPTL6 4 81568 4.90388E-5 40784 0 6.81698E-5
19-10205580-G-A p.Pro206Leu missense ANGPTL6 1 81612 1.22531E-5 40806 0 6.25E-4
19-10205584-CCA-C p.Val204fs frameshift ANGPTL6 3 81618 3.67566E-5 40809 0 NA
19-10205598-G-T p.Pro200Gln missense ANGPTL6 1 81720 1.22369E-5 40860 0 4.05617E-6
19-10205604-G-A p.Pro198Leu missense ANGPTL6 2 81802 2.44493E-5 40901 0 NA
19-10205606-C-A p.Pro197Pro synonymous ANGPTL6 4 81824 4.88854E-5 40912 0 NA
19-10205606-C-T p.Pro197Pro synonymous ANGPTL6 1 81824 1.22214E-5 40912 0 5.56112E-5
19-10205607-G-A p.Pro197Leu missense ANGPTL6 7 81878 8.5493E-5 40939 0 6.59581E-5
19-10205610-A-C p.Leu196Arg missense ANGPTL6 1 81910 1.22085E-5 40955 0 9.49866E-6
19-10205618-G-A c.583-4C>T splice_region ANGPTL6 500 81978 0.0060992 40989 16 0.0146478
19-10206654-T-C c.582+4A>G splice_region ANGPTL6 1 35084 2.8503E-5 17542 0 3.19693E-5
19-10206662-T-C p.Gln193Arg missense ANGPTL6 15 35378 4.23992E-4 17689 0 9.15065E-4
19-10206670-G-T p.Gly190Gly synonymous ANGPTL6 1 35676 2.803E-5 17838 0 NA
19-10206679-TC-T p.Gly187fs frameshift ANGPTL6 1 36386 2.74831E-5 18193 0 3.25521E-5
19-10206724-G-C p.Thr172Thr synonymous ANGPTL6 6 40332 1.48765E-4 20166 1 5.05561E-4
19-10206726-T-A p.Thr172Ser missense ANGPTL6 1 40320 2.48016E-5 20160 0 NA
19-10206747-G-T p.Arg165Ser missense ANGPTL6 2 40436 4.94609E-5 20218 0 0.00101523
19-10206763-C-A p.Gln159His missense ANGPTL6 2 40362 4.95516E-5 20181 0 2.3919E-4
19-10206768-G-A p.His158Tyr missense ANGPTL6 1 40318 2.48028E-5 20159 0 4.15962E-5
19-10206772-C-T p.Arg156Arg synonymous ANGPTL6 1 40236 2.48534E-5 20118 0 NA
19-10206774-G-A p.Arg156Trp missense ANGPTL6 3 40080 7.48503E-5 20040 0 5.79559E-5
19-10206774-G-C p.Arg156Gly missense ANGPTL6 1 40080 2.49501E-5 20040 0 2.89779E-5
19-10206779-G-A p.Ala154Val missense ANGPTL6 1 39850 2.50941E-5 19925 0 NA
19-10206780-C-T p.Ala154Thr missense ANGPTL6 16 39838 4.01627E-4 19919 0 0.00101317
19-10206782-G-GCGCGCTGAGCCTCGGCGGA p.Ala153fs frameshift ANGPTL6 13 39760 3.26962E-4 19880 0 1.9976E-4
19-10206794-T-G p.Glu149Ala missense ANGPTL6 1 38978 2.56555E-5 19489 0 6.48256E-5
19-10206799-G-C p.Ser147Ser synonymous ANGPTL6 1 38538 2.59484E-5 19269 0 NA
19-10206813-C-A p.Val143Leu missense ANGPTL6 4 37672 1.0618E-4 18836 0 0.00188206
19-10206821-C-G p.Gly140Ala missense ANGPTL6 1 37178 2.68976E-5 18589 0 NA
19-10206822-C-A p.Gly140Trp missense ANGPTL6 9 37020 2.43112E-4 18510 0 6.55124E-4
19-10206824-A-T p.Leu139His missense ANGPTL6 1 36928 2.70797E-5 18464 0 3.30469E-5
19-10206824-A-G p.Leu139Pro missense ANGPTL6 2 36928 5.41594E-5 18464 0 1.26871E-4
19-10206826-C-T p.Leu138Leu synonymous ANGPTL6 1 36882 2.71135E-5 18441 0 NA
19-10206830-G-T p.Ala137Glu missense ANGPTL6 1 36482 2.74108E-5 18241 0 0.0394737
19-10206835-C-A p.Ala135Ala synonymous ANGPTL6 5 36094 1.38527E-4 18047 0 0.00317125
19-10206836-G-T p.Ala135Glu missense ANGPTL6 2 36098 5.54047E-5 18049 0 NA
19-10206836-G-A p.Ala135Val missense ANGPTL6 1 36098 2.77024E-5 18049 0 NA
19-10206840-C-A p.Ala134Ser missense ANGPTL6 1 35398 2.82502E-5 17699 0 NA
19-10206848-T-A p.Glu131Val missense ANGPTL6 48 35126 0.00136651 17563 0 0.00165451
19-10206851-G-A p.Ala130Val missense ANGPTL6 2 34888 5.73263E-5 17444 0 NA
19-10206858-G-C p.Leu128Val missense ANGPTL6 6 34088 1.76015E-4 17044 0 3.73413E-4
19-10206860-TCCGCCCCCGGGC-T p.Gly123_Ala126del disruptive_inframe_deletion ANGPTL6 1 33946 2.94586E-5 16973 0 3.42349E-5
19-10206864-CCCCCGGGCCCG-C p.Ala122fs frameshift ANGPTL6 1 32870 3.04229E-5 16435 0 NA
19-10206871-G-C p.Gly123Gly synonymous ANGPTL6 1 32200 3.10559E-5 16100 0 3.48651E-5
19-10206875-G-C p.Ala122Gly missense ANGPTL6 1 31636 3.16096E-5 15818 0 NA
19-10206883-C-A p.Gly119Gly synonymous ANGPTL6 1 31260 3.19898E-5 15630 0 NA
19-10206888-C-T p.Ala118Thr missense ANGPTL6 1 31068 3.21875E-5 15534 0 NA
19-10206898-C-A p.Leu114Leu synonymous ANGPTL6 1 30802 3.24654E-5 15401 0 NA
19-10206908-C-T p.Arg111His missense ANGPTL6 4 30502 1.31139E-4 15251 0 NA
19-10206933-G-T p.Leu103Met missense ANGPTL6 1 30854 3.24107E-5 15427 0 3.60101E-5
19-10206937-G-T p.Arg101Arg synonymous ANGPTL6 1 30798 3.24696E-5 15399 0 NA
19-10206939-G-C p.Arg101Gly missense ANGPTL6 1 30882 3.23813E-5 15441 0 NA
19-10206943-C-T p.Glu99Glu synonymous ANGPTL6 1 31084 3.21709E-5 15542 0 NA
19-10206953-A-G p.Leu96Pro missense ANGPTL6 447 31086 0.0143795 15543 6 0.015848
19-10206959-C-T p.Arg94His missense ANGPTL6 1 31330 3.19183E-5 15665 0 0.002
19-10206970-G-C p.Ala90Ala synonymous ANGPTL6 4 31624 1.26486E-4 15812 0 1.05962E-4
19-10206974-A-G p.Val89Ala missense ANGPTL6 1 31656 3.15896E-5 15828 0 NA
19-10206975-C-A p.Val89Leu missense ANGPTL6 1 31692 3.15537E-5 15846 0 3.51519E-5
19-10206985-GGCC-G p.Ala85del disruptive_inframe_deletion ANGPTL6 4 31754 1.25968E-4 15877 0 3.47198E-5
19-10206997-C-G p.Arg81Ser missense ANGPTL6 3 32896 9.11965E-5 16448 0 1.35336E-4
19-10207003-C-A p.Leu79Leu synonymous ANGPTL6 1 33140 3.0175E-5 16570 0 NA
19-10207005-G-C p.Leu79Val missense ANGPTL6 1 33186 3.01332E-5 16593 0 NA
19-10207012-T-G p.Leu76Phe missense ANGPTL6 1 33482 2.98668E-5 16741 0 NA
19-10207016-A-G p.Leu75Pro missense ANGPTL6 1 33496 2.98543E-5 16748 0 NA
19-10207016-A-C p.Leu75Arg missense ANGPTL6 1 33496 2.98543E-5 16748 0 NA
19-10207018-C-T p.Glu74Glu synonymous ANGPTL6 1 33586 2.97743E-5 16793 0 NA
19-10207019-T-G p.Glu74Ala missense ANGPTL6 1 33478 2.98704E-5 16739 0 3.32314E-5
19-10207020-C-G p.Glu74Gln missense ANGPTL6 5 33500 1.49254E-4 16750 0 3.31279E-5
19-10207024-G-C p.His72Gln missense ANGPTL6 6 33256 1.80419E-4 16628 0 1.99641E-4
19-10207030-G-A p.Gly70Gly synonymous ANGPTL6 1 33036 3.027E-5 16518 0 3.31873E-5
19-10207035-C-T p.Val69Ile missense ANGPTL6 16 32986 4.85054E-4 16493 0 1.32301E-4
19-10207039-C-T p.Met67Ile missense ANGPTL6 1 33378 2.99599E-5 16689 0 NA
19-10207048-C-T p.Ala64Ala synonymous ANGPTL6 246 33548 0.00733278 16774 6 0.235294
19-10207049-G-A p.Ala64Val missense ANGPTL6 1 33530 2.9824E-5 16765 0 NA
19-10207054-C-T p.Leu62Leu synonymous ANGPTL6 1 33726 2.96507E-5 16863 0 NA
19-10207071-C-T p.Ala57Thr missense ANGPTL6 1 34090 2.93341E-5 17045 0 NA
19-10207072-G-T p.Ala56Ala synonymous ANGPTL6 6 34102 1.75943E-4 17051 0 0.00317662
19-10207075-C-T p.Glu55Glu synonymous ANGPTL6 1 34346 2.91155E-5 17173 0 NA
19-10207081-C-T p.Thr53Thr synonymous ANGPTL6 2 34874 5.73493E-5 17437 0 NA
19-10207082-G-T p.Thr53Lys missense ANGPTL6 1 34886 2.86648E-5 17443 0 NA
19-10207083-T-C p.Thr53Ala missense ANGPTL6 2 34982 5.71723E-5 17491 0 0.00126263
19-10207084-C-T p.Ala52Ala synonymous ANGPTL6 14 35046 3.99475E-4 17523 0 7.44674E-4
19-10207091-G-T p.Thr50Lys missense ANGPTL6 1 35122 2.84722E-5 17561 0 NA
19-10207103-C-T p.Gly46Asp missense ANGPTL6 7 36576 1.91382E-4 18288 0 7.24428E-5
19-10207111-G-C p.Cys43Trp missense ANGPTL6 3 38986 7.69507E-5 19493 0 2.35949E-5
19-10207119-C-T p.Ala41Thr missense ANGPTL6 1 39062 2.56003E-5 19531 0 NA
19-10207122-C-T p.Gly40Ser missense ANGPTL6 1 39218 2.54985E-5 19609 0 NA
19-10207124-G-A p.Thr39Met missense ANGPTL6 5 39226 1.27466E-4 19613 0 NA
19-10207129-C-T p.Lys37Lys synonymous ANGPTL6 1 39340 2.54194E-5 19670 0 1.51906E-5
19-10207132-C-A p.Gln36His missense ANGPTL6 1 39332 2.54246E-5 19666 0 NA
19-10207137-G-A p.Pro35Ser missense ANGPTL6 1 39350 2.5413E-5 19675 0 2.12495E-4
19-10207163-C-T p.Arg26His missense ANGPTL6 2 39568 5.05459E-5 19784 0 NA
19-10207174-C-T p.Ala22Ala synonymous ANGPTL6 1 39756 2.51534E-5 19878 0 9.4402E-6
19-10207193-C-G p.Gly16Ala missense ANGPTL6 1 40052 2.49675E-5 20026 0 9.34719E-6
19-10207220-C-A p.Arg7Leu missense ANGPTL6 1 40350 2.47831E-5 20175 0 NA
19-10207225-C-T p.Trp5* stop_gained ANGPTL6 12 40384 2.97147E-4 20192 0 8.04783E-4
19-10207231-C-T p.Lys3Lys synonymous ANGPTL6 2 40352 4.95638E-5 20176 0 6.38692E-5
19-10207243-G-A c.-4C>T 5_prime_UTR_premature_start_codon_gain ANGPTL6 3 40322 7.44011E-5 20161 0 1.91534E-4
19-10207257-C-T c.-10-8G>A splice_region ANGPTL6 1 40086 2.49464E-5 20043 0 NA
19-10207271-A-C c.-32T>G 5_prime_UTR_premature_start_codon_gain ANGPTL6 1 39732 2.51686E-5 19866 0 NA
19-10213223-C-G c.-11+5G>C splice_region ANGPTL6 6 28028 2.14072E-4 14014 0 7.05309E-4
19-10213227-C-T c.-11+1G>A splice_donor ANGPTL6 1 28062 3.56354E-5 14031 0 9.62587E-5
19-10213289-C-G c.-56G>C 5_prime_UTR_premature_start_codon_gain ANGPTL6 1 28144 3.55316E-5 14072 0 NA
19-10213310-G-A c.-77C>T 5_prime_UTR_premature_start_codon_gain ANGPTL6 1 28168 3.55013E-5 14084 0 NA
19-10213341-G-A c.-108C>T 5_prime_UTR_premature_start_codon_gain ANGPTL6 1 28184 3.54811E-5 14092 0 NA
19-10213372-G-C c.-139C>G 5_prime_UTR_premature_start_codon_gain ANGPTL6 1 28170 3.54988E-5 14085 0 NA
19-10213466-G-A c.-233C>T 5_prime_UTR_premature_start_codon_gain ANGPTL6 4 27916 1.43287E-4 13958 0 2.88554E-4