Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
19-39575724-C-G c.-178-8C>G splice_region PAPL 1 35368 2.82741E-5 17684 0 3.1904E-5
19-39575884-C-T c.-26C>T 5_prime_UTR_premature_start_codon_gain PAPL 10 82352 1.2143E-4 41176 0 2.23342E-4
19-39575936-C-T p.Ser9Ser synonymous PAPL 1 83008 1.2047E-5 41504 0 8.27664E-6
19-39575938-G-GTTACT p.Cys12fs frameshift PAPL 1 83020 1.20453E-5 41510 0 NA
19-39575959-T-C p.Phe17Ser missense PAPL 1 83064 1.20389E-5 41532 0 8.26078E-6
19-39575966-G-A p.Leu19Leu synonymous PAPL 1 83074 1.20375E-5 41537 0 NA
19-39575967-G-T p.Gly20* stop_gained PAPL 1 83080 1.20366E-5 41540 0 NA
19-39575980-C-T p.Ser24Phe missense PAPL 3 83056 3.61202E-5 41528 0 1.35487E-4
19-39575982-C-G p.Leu25Val missense PAPL 1 83050 1.20409E-5 41525 0 NA
19-39575987-G-A p.Gly26Gly synonymous PAPL 4933 82848 0.0595428 41424 806 0.122447
19-39575987-G-T p.Gly26Gly synonymous PAPL 2 83016 2.40917E-5 41508 0 7.98193E-5
19-39575996-C-A p.Ser29Arg missense PAPL 31 83004 3.73476E-4 41502 0 0.00125
19-39575996-C-T p.Ser29Ser synonymous PAPL 1 83010 1.20467E-5 41505 0 9.98434E-5
19-39575997-G-A p.Ala30Thr missense PAPL 63 82986 7.59164E-4 41493 0 0.00117947
19-39576016-A-G p.His36Arg missense PAPL 1 83010 1.20467E-5 41505 0 NA
19-39576031-G-C c.121+1G>C splice_donor PAPL 1 82782 1.20799E-5 41391 0 4.09021E-6
19-39589094-C-T c.122-4C>T splice_region PAPL 1 80794 1.23772E-5 40397 0 9.2081E-6
19-39589105-A-T p.Pro43Pro synonymous PAPL 5 80996 6.17314E-5 40498 0 3.84025E-4
19-39589112-A-G p.Met46Val missense PAPL 1 81594 1.22558E-5 40797 0 1.81212E-5
19-39589120-A-C p.Val48Val synonymous PAPL 1 81942 1.22038E-5 40971 0 4.30367E-6
19-39589140-C-T p.Pro55Leu missense PAPL 2 82692 2.41861E-5 41346 0 NA
19-39589142-A-G p.Thr56Ala missense PAPL 1 82668 1.20966E-5 41334 0 4.0819E-6
19-39589143-C-T p.Thr56Ile missense PAPL 1 82672 1.2096E-5 41336 0 NA
19-39589144-C-T p.Thr56Thr synonymous PAPL 1 82726 1.20881E-5 41363 0 6.37633E-5
19-39589144-C-A p.Thr56Thr synonymous PAPL 1 82726 1.20881E-5 41363 0 NA
19-39589145-C-G p.Arg57Gly missense PAPL 1 82696 1.20925E-5 41348 0 NA
19-39589153-A-C p.Glu59Asp missense PAPL 1 82770 1.20817E-5 41385 0 4.04442E-6
19-39589171-G-C p.Gln65His missense PAPL 4 82744 4.83419E-5 41372 0 3.18756E-5
19-39589172-C-A p.Pro66Thr missense PAPL 1 82732 1.20872E-5 41366 0 NA
19-39589174-G-T p.Pro66Pro synonymous PAPL 2 82734 2.41739E-5 41367 0 NA
19-39589175-T-C p.Ser67Pro missense PAPL 2 82716 2.41791E-5 41358 0 NA
19-39589177-G-A p.Ser67Ser synonymous PAPL 712 82708 0.0086086 41354 14 0.0184288
19-39589180-G-A p.Gly68Gly synonymous PAPL 4 82704 4.83653E-5 41352 0 3.18817E-5
19-39589189-C-T p.Pro71Pro synonymous PAPL 19337 82234 0.235146 41117 2438 0.255481
19-39589193-C-G p.Arg73Gly missense PAPL 5 82790 6.03938E-5 41395 0 1.59327E-4
19-39589195-C-T p.Arg73Arg synonymous PAPL 2 82732 2.41744E-5 41366 0 2.79611E-5
19-39589203-G-A p.Gly76Asp missense PAPL 1 82694 1.20928E-5 41347 0 NA
19-39589204-C-T p.Gly76Gly synonymous PAPL 1 82680 1.20948E-5 41340 0 NA
19-39589207-C-T p.Thr77Thr synonymous PAPL 2 82722 2.41774E-5 41361 0 NA
19-39589211-G-A p.Val79Ile missense PAPL 5 82704 6.04566E-5 41352 0 1.59388E-4
19-39589213-C-T p.Val79Val synonymous PAPL 2 82730 2.4175E-5 41365 0 3.99176E-6
19-39589219-T-G p.Phe81Leu missense PAPL 1 82694 1.20928E-5 41347 0 NA
19-39589225-CG-C p.Gly85fs frameshift PAPL 1 82620 1.21036E-5 41310 0 3.33133E-5
19-39589226-G-C p.Gly84Arg missense PAPL 1 82648 1.20995E-5 41324 0 6.25E-4
19-39589226-GG-AA p.Gly84Lys missense PAPL 1 82648 1.20995E-5 41324 0 NA
19-39589231-C-T p.Gly85Gly synonymous PAPL 7 82522 8.48259E-5 41261 2 1.66581E-5
19-39589242-G-T p.Arg89Leu missense PAPL 7 82482 8.4867E-5 41241 0 1.27421E-4
19-39589254-T-A p.Ile93Lys missense PAPL 1 82342 1.21445E-5 41171 0 3.18776E-5
19-39589261-A-C p.Arg95Arg synonymous PAPL 2 82094 2.43623E-5 41047 0 NA
19-39589276-G-A p.Lys100Lys synonymous PAPL 2 82096 2.43617E-5 41048 0 8.47458E-6
19-39589289-G-T p.Val105Phe missense PAPL 1 81920 1.2207E-5 40960 0 4.05426E-6
19-39589297-T-C p.Tyr107Tyr splice_region+synonymous PAPL 5 81876 6.1068E-5 40938 0 3.82555E-4
19-39589304-A-T c.322+6A>T splice_region PAPL 1 81820 1.2222E-5 40910 0 NA
19-39589595-T-C c.323-5T>C splice_region PAPL 6 81940 7.32243E-5 40970 0 1.92443E-4
19-39589606-G-A p.Arg110His missense PAPL 1 82224 1.21619E-5 41112 0 3.19959E-5
19-39589613-C-T p.Gly112Gly synonymous PAPL 1 82400 1.21359E-5 41200 0 4.20006E-5
19-39589617-G-C p.Ala114Pro missense PAPL 5 82480 6.06208E-5 41240 0 5.04541E-4
19-39589619-G-T p.Ala114Ala synonymous PAPL 1 82502 1.21209E-5 41251 0 NA
19-39589619-GC-TT p.AlaGln114* stop_gained PAPL 1 82502 1.21209E-5 41251 0 NA
19-39589620-C-T p.Gln115* stop_gained PAPL 1 82528 1.21171E-5 41264 0 NA
19-39589622-G-C p.Gln115His missense PAPL 1 82566 1.21115E-5 41283 0 NA
19-39589629-A-G p.Ser118Gly missense PAPL 2 82634 2.42031E-5 41317 0 4.00256E-6
19-39589630-G-A p.Ser118Asn missense PAPL 2 82618 2.42078E-5 41309 0 NA
19-39589632-C-A p.Arg119Ser missense PAPL 2 82666 2.41937E-5 41333 0 3.2011E-5
19-39589643-C-A p.Arg122Arg synonymous PAPL 2 82712 2.41803E-5 41356 0 1.67216E-5
19-39589652-C-T p.Ala125Ala synonymous PAPL 1 82774 1.20811E-5 41387 0 NA
19-39589668-C-A p.His131Asn missense PAPL 4 82824 4.82952E-5 41412 0 1.27405E-4
19-39589686-G-A p.Ala137Thr missense PAPL 3 82812 3.62266E-5 41406 0 2.81652E-5
19-39589696-G-A p.Gly140Glu missense PAPL 1 82838 1.20718E-5 41419 0 NA
19-39589699-A-G p.Asp141Gly missense PAPL 1 82760 1.20831E-5 41380 0 NA
19-39589701-C-G p.Leu142Val missense PAPL 2 82800 2.41546E-5 41400 0 NA
19-39589707-G-A p.Ala144Thr missense PAPL 10 82712 1.20901E-4 41356 0 2.54891E-4
19-39589715-C-A p.Asn146Lys missense PAPL 35 82674 4.2335E-4 41337 0 0.00143234
19-39589736-G-T p.Leu153Leu synonymous PAPL 2 82244 2.43179E-5 41122 0 8.84189E-6
19-39589737-C-T p.Arg154Cys missense PAPL 1 82198 1.21657E-5 41099 0 NA
19-39589738-G-A p.Arg154His missense PAPL 1 82218 1.21628E-5 41109 0 5.32151E-5
19-39589745-C-T p.Asp156Asp synonymous PAPL 2 82074 2.43683E-5 41037 0 8.93879E-6
19-39589753-A-T p.Gln159Leu missense PAPL 5 81756 6.11576E-5 40878 0 7.21852E-5
19-39589761-T-C p.Tyr162His missense PAPL 1 81398 1.22853E-5 40699 0 5.02831E-6
19-39589762-A-G p.Tyr162Cys missense PAPL 13 81332 1.59839E-4 40666 0 6.38488E-4
19-39589775-C-A p.Leu166Leu synonymous PAPL 72 80274 8.96928E-4 40137 1 5.05051E-4
19-39589778-T-C p.His167His synonymous PAPL 3 79954 3.75216E-5 39977 0 1.87287E-5
19-39589783-G-T c.505+1G>T splice_donor PAPL 1 79376 1.25983E-5 39688 0 NA
19-39589784-T-G c.505+2T>G splice_donor PAPL 1 79222 1.26228E-5 39611 0 NA
19-39589786-A-T c.505+4A>T splice_region PAPL 2 79012 2.53126E-5 39506 0 3.83678E-5
19-39590868-A-G p.Gly169Gly splice_region+synonymous PAPL 29 81012 3.57972E-4 40506 1 2.14973E-4
19-39590892-G-C p.Gln177His missense PAPL 1 82394 1.21368E-5 41197 0 NA
19-39590898-C-T p.Asn179Asn synonymous PAPL 2 82576 2.42201E-5 41288 0 7.41522E-5
19-39590899-G-A p.Ala180Thr missense PAPL 2 82590 2.4216E-5 41295 0 NA
19-39590901-C-A p.Ala180Ala synonymous PAPL 2 82684 2.41885E-5 41342 0 NA
19-39590902-C-T p.Arg181Cys missense PAPL 6 82720 7.25338E-5 41360 0 3.97728E-5
19-39590903-G-A p.Arg181His missense PAPL 1 82778 1.20805E-5 41389 0 6.3743E-5
19-39590920-A-G p.Met187Val missense PAPL 4 83056 4.81603E-5 41528 0 3.97684E-5
19-39590923-C-T p.Arg188Trp missense PAPL 2 83062 2.40784E-5 41531 0 3.97703E-6
19-39590936-C-T p.Pro192Leu missense PAPL 2 83162 2.40494E-5 41581 0 3.57918E-5
19-39590938-G-A p.Val193Met missense PAPL 4 83162 4.80989E-5 41581 0 8.23669E-6
19-39590949-C-T p.Ser196Ser synonymous PAPL 1 83236 1.2014E-5 41618 0 8.23696E-6
19-39590955-G-A p.Pro198Pro synonymous PAPL 51634 82710 0.624278 41355 16194 0.654582
19-39590958-C-T p.Tyr199Tyr synonymous PAPL 15 83276 1.80124E-4 41638 0 0.00100705
19-39590962-A-G p.Thr201Ala missense PAPL 1 83288 1.20065E-5 41644 0 NA
19-39590986-C-T p.Arg209Cys missense PAPL 6 83300 7.20288E-5 41650 0 1.59133E-5
19-39591228-C-G p.Ser213Cys missense PAPL 3 83024 3.61341E-5 41512 0 6.37714E-5
19-39591233-T-C p.Tyr215His missense PAPL 1 83022 1.2045E-5 41511 0 NA
19-39591243-G-A p.Arg218His missense PAPL 1 83038 1.20427E-5 41519 0 1.19293E-5
19-39591255-C-A p.Pro222Gln missense PAPL 1 83068 1.20383E-5 41534 0 NA
19-39591256-G-A p.Arg181Gln missense PAPL 2 83078 2.40738E-5 41539 0 5.16997E-5
19-39591266-G-A p.Glu226Lys missense PAPL 8 83094 9.62765E-5 41547 0 6.37796E-5
19-39591268-G-A p.Arg185Lys missense PAPL 70 83102 8.42338E-4 41551 0 0.006875
19-39591271-C-T p.Ala186Val missense PAPL 2 83102 2.40668E-5 41551 0 NA
19-39591277-G-A p.Trp229* stop_gained PAPL 45 83092 5.41568E-4 41546 0 6.05829E-4
19-39591290-G-T c.692+8G>T splice_region PAPL 1 83094 1.20346E-5 41547 0 NA
19-39591293-G-A p.Gly193Gly synonymous PAPL 1 83076 1.20372E-5 41538 0 8.23859E-6
19-39591294-G-T p.Val194Leu missense PAPL 2 83070 2.40761E-5 41535 0 1.19331E-5
19-39591297-C-T p.Leu195Leu synonymous PAPL 1 83056 1.20401E-5 41528 0 NA
19-39591303-G-A p.Asp197Asn missense PAPL 3 83062 3.61176E-5 41531 0 5.76749E-5
19-39591309-C-T p.Pro199Ser missense PAPL 4 83052 4.81626E-5 41526 1 NA
19-39591309-C-A p.Pro199Thr missense PAPL 1 83052 1.20406E-5 41526 0 1.59139E-5
19-39591311-C-T p.Pro199Pro synonymous PAPL 2 83058 2.40796E-5 41529 0 6.37755E-5
19-39591316-C-T p.Pro201Leu missense PAPL 1 83054 1.20404E-5 41527 0 8.23995E-6
19-39591319-T-G p.Leu202Arg missense PAPL 1 83070 1.2038E-5 41535 0 8.24022E-6
19-39591333-T-C p.Cys207Arg missense PAPL 2 83068 2.40767E-5 41534 0 6.38121E-5
19-39591338-G-A p.Arg208Arg synonymous PAPL 1 83078 1.20369E-5 41539 0 NA
19-39591343-C-A p.Ala210Asp missense PAPL 1 83066 1.20386E-5 41533 0 NA
19-39591343-C-T p.Ala210Val missense PAPL 1 83066 1.20386E-5 41533 0 NA
19-39591357-C-T p.Pro215Ser missense PAPL 1 83136 1.20285E-5 41568 0 3.18979E-5
19-39591371-T-G c.693-8T>G splice_region PAPL 2 83180 2.40442E-5 41590 0 NA
19-39591372-C-T p.Pro220Ser missense PAPL 1 83184 1.20215E-5 41592 0 3.97848E-6
19-39591394-C-T p.Pro195Leu missense PAPL 1 83184 1.20215E-5 41592 0 1.64883E-5
19-39591396-C-A p.Ala237Asp missense PAPL 1 83180 1.20221E-5 41590 0 7.95665E-6
19-39591398-C-T p.His238Tyr missense PAPL 1 83182 1.20218E-5 41591 0 NA
19-39591399-A-G p.His238Arg missense PAPL 1 83184 1.20215E-5 41592 0 3.9781E-6
19-39591402-T-C p.Ile239Thr missense PAPL 1 83182 1.20218E-5 41591 0 NA
19-39591405-T-A p.Ile240Asn missense PAPL 1 83188 1.2021E-5 41594 0 3.58038E-5
19-39591408-CCTT-C p.Phe242del disruptive_inframe_deletion PAPL 1 83176 1.20227E-5 41588 0 3.97845E-6
19-39591418-C-T p.Pro203Leu missense PAPL 2 83162 2.40494E-5 41581 0 9.57488E-5
19-39591426-A-G p.Tyr247Cys missense PAPL 2 83164 2.40489E-5 41582 0 6.39059E-5
19-39591441-A-G p.Tyr252Cys missense PAPL 4 83148 4.8107E-5 41574 0 3.98283E-6
19-39591442-T-A p.Tyr252* stop_gained PAPL 1 83154 1.20259E-5 41577 0 NA
19-39591444-GC-G p.Arg254fs frameshift PAPL 2 83138 2.40564E-5 41569 0 NA
19-39591446-C-T p.Arg254Cys missense PAPL 1 83162 1.20247E-5 41581 0 1.1944E-5
19-39591447-G-T p.Arg254Leu missense PAPL 1 83152 1.20262E-5 41576 0 NA
19-39591447-G-A p.Arg254His missense PAPL 2 83152 2.40523E-5 41576 0 2.48028E-5
19-39591451-C-T p.Thr214Ile missense PAPL 31 83170 3.72731E-4 41585 0 1.55287E-4
19-39591453-T-C p.Leu256Ser missense PAPL 33 83166 3.96797E-4 41583 0 5.10269E-4
19-39591454-G-C p.Leu256Phe missense PAPL 1 83166 1.20241E-5 41583 0 NA
19-39591462-G-A p.Arg259Lys missense PAPL 1 83144 1.20273E-5 41572 0 1.19552E-5
19-39591470-C-T p.Arg262Cys missense PAPL 1 83092 1.20349E-5 41546 0 8.28748E-6
19-39591471-G-A p.Arg262His missense PAPL 1 83070 1.2038E-5 41535 0 1.65796E-5
19-39591471-G-T p.Arg262Leu missense PAPL 1 83070 1.2038E-5 41535 0 1.65796E-5
19-39591479-G-C p.Glu265Gln missense PAPL 2 83008 2.40941E-5 41504 0 NA
19-39591481-G-A p.Arg224Lys missense PAPL 1 82994 1.20491E-5 41497 0 NA
19-39591485-G-A p.Asp267Asn missense PAPL 3 82930 3.61751E-5 41465 0 3.19122E-5
19-39591499-C-T c.807+6C>T splice_region PAPL 1 82874 1.20665E-5 41437 0 NA
19-39591581-C-T c.808-8C>T splice_region PAPL 1 82688 1.20937E-5 41344 0 1.2062E-5
19-39591582-T-C c.808-7T>C splice_region PAPL 2 82692 2.41861E-5 41346 0 3.27075E-5
19-39591583-C-A c.808-6C>A splice_region PAPL 1 82724 1.20884E-5 41362 0 8.03607E-6
19-39591599-A-G p.Lys273Arg missense PAPL 1 82880 1.20656E-5 41440 0 NA
19-39591604-C-T p.Arg275Trp missense PAPL 2 82894 2.41272E-5 41447 0 6.391E-5
19-39591605-G-A p.Arg275Gln missense PAPL 1 82900 1.20627E-5 41450 0 6.44995E-5
19-39591611-C-T p.Ala277Val missense PAPL 1 82944 1.20563E-5 41472 0 1.99655E-5
19-39591613-C-T p.Arg278Trp missense PAPL 3 82962 3.61611E-5 41481 0 2.87395E-4
19-39591614-G-T p.Arg278Leu missense PAPL 2 82956 2.41092E-5 41478 0 3.99112E-6
19-39591617-C-T p.Pro279Leu missense PAPL 5 83000 6.0241E-5 41500 0 4.99667E-5
19-39591631-A-G p.Met284Val missense PAPL 2 83090 2.40703E-5 41545 0 2.39013E-5
19-39591632-T-C p.Met284Thr missense PAPL 1 83082 1.20363E-5 41541 0 NA
19-39591640-C-T p.Arg287Trp missense PAPL 4 83120 4.81232E-5 41560 0 1.65815E-5
19-39591641-G-A p.Arg287Gln missense PAPL 5 83130 6.01468E-5 41565 0 6.38162E-5
19-39591647-T-C p.Met289Thr missense PAPL 1 83164 1.20244E-5 41582 0 NA
19-39591653-G-A p.Cys291Tyr missense PAPL 58 83150 6.97535E-4 41575 0 0.00110946
19-39591660-C-A p.Asn293Lys missense PAPL 1 83168 1.20239E-5 41584 0 1.19435E-5
19-39591664-G-A p.Asp295Asn missense PAPL 1 83170 1.20236E-5 41585 0 8.27527E-6
19-39591670-G-A p.Trp255* stop_gained PAPL 2 83192 2.40408E-5 41596 0 1.1943E-5
19-39591672-C-T p.Thr256Met missense PAPL 3 83174 3.6069E-5 41587 0 0.00100705
19-39591674-A-T p.Asp298Val missense PAPL 1 83196 1.20198E-5 41598 0 NA
19-39591680-C-G p.Thr300Arg missense PAPL 1 83218 1.20166E-5 41609 0 8.27157E-6
19-39591686-A-G p.His302Arg missense PAPL 6 83222 7.20963E-5 41611 0 3.98178E-6
19-39591687-T-C p.Met261Thr missense PAPL 2 83230 2.40298E-5 41615 0 3.18593E-5
19-39591693-C-A p.Ser304Arg missense PAPL 2 83198 2.4039E-5 41599 0 7.96654E-6
19-39591793-C-T p.Arg307Cys missense PAPL 2 83120 2.40616E-5 41560 0 6.25E-4
19-39591795-C-A p.Ala266Glu missense PAPL 5 83116 6.01569E-5 41558 0 3.18649E-5
19-39591796-A-C p.Lys308Gln missense PAPL 33 83122 3.97007E-4 41561 0 6.25E-4
19-39591807-A-C p.Gln311His missense PAPL 1 83132 1.20291E-5 41566 0 NA
19-39591808-G-C p.Gly312Arg missense PAPL 1 83124 1.20302E-5 41562 0 7.96299E-6
19-39591808-G-T p.Gly312Cys missense PAPL 2 83124 2.40604E-5 41562 0 NA
19-39591809-G-A p.Gly312Asp missense PAPL 1 83114 1.20317E-5 41557 0 3.1855E-5
19-39591816-G-A p.Cys273Tyr missense PAPL 7 83156 8.41791E-5 41578 0 6.36902E-5
19-39591819-C-T p.Thr274Met missense PAPL 1 83150 1.20265E-5 41575 0 4.14106E-5
19-39591820-G-A p.Gly316Arg missense PAPL 3 83144 3.6082E-5 41572 0 1.65651E-5
19-39591829-G-T p.Asp319Tyr missense PAPL 1243 83118 0.0149546 41559 10 0.017848
19-39591838-T-A p.Tyr322Asn missense PAPL 1 83142 1.20276E-5 41571 0 NA
19-39591853-C-T c.973+6C>T splice_region PAPL 1 83090 1.20351E-5 41545 0 8.29931E-6
19-39591931-T-C p.Val326Ala missense PAPL 1 82980 1.20511E-5 41490 0 7.96502E-6
19-39591951-C-T p.His333Tyr missense PAPL 1 83002 1.20479E-5 41501 0 8.27075E-6
19-39591954-G-T p.Glu334* stop_gained PAPL 5 83010 6.02337E-5 41505 0 NA
19-39591960-T-G p.Ser336Ala missense PAPL 1 83010 1.20467E-5 41505 0 3.98013E-6
19-39591964-A-C p.Tyr337Ser missense PAPL 1 83030 1.20438E-5 41515 0 3.97988E-6
19-39591969-C-T p.Arg339* stop_gained PAPL 9 83046 1.08374E-4 41523 0 0.001875
19-39591970-G-A p.Arg339Gln missense PAPL 3 83046 3.61246E-5 41523 0 5.17396E-5
19-39591981-A-G p.Ile343Val missense PAPL 2 83102 2.40668E-5 41551 0 5.03525E-4
19-39591984-T-G p.Tyr344Asp missense PAPL 1 83096 1.20343E-5 41548 0 1.35277E-4
19-39591987-A-C p.Asn345His missense PAPL 1 83088 1.20354E-5 41544 0 3.97858E-6
19-39591992-C-A p.Tyr346* stop_gained PAPL 11 83104 1.32364E-4 41552 0 NA
19-39591996-G-A c.1041+1G>A splice_donor PAPL 2 83104 2.40662E-5 41552 0 NA
19-39591996-G-C c.1041+1G>C splice_donor PAPL 1 83104 1.20331E-5 41552 0 NA
19-39591998-G-A c.1041+3G>A splice_region PAPL 6 83098 7.22039E-5 41549 0 1.59256E-4
19-39592002-C-T c.1041+7C>T splice_region PAPL 1 83092 1.20349E-5 41546 0 8.25328E-6
19-39592099-T-C c.1042-7T>C splice_region PAPL 56 83060 6.74211E-4 41530 0 0.00270281
19-39592111-T-C p.Leu308Ser missense PAPL 13 83082 1.56472E-4 41541 1 6.25E-4
19-39592120-C-G p.Ser352Arg missense PAPL 2 83034 2.40865E-5 41517 0 0.00100705
19-39592121-C-T p.Arg353* stop_gained PAPL 1 83024 1.20447E-5 41512 0 3.18573E-5
19-39592122-G-A p.Arg353Gln missense PAPL 1 83012 1.20465E-5 41506 0 3.98251E-6
19-39592138-C-T p.Pro317Leu missense PAPL 17503 81764 0.214067 40882 1923 0.248116
19-39592143-C-T p.Pro360Leu missense PAPL 6 82958 7.23258E-5 41479 0 1.27462E-4
19-39592144-G-T p.Arg319Leu missense PAPL 2 82930 2.41167E-5 41465 0 6.25E-4
19-39592146-G-A p.Arg361Gln missense PAPL 1 82942 1.20566E-5 41471 0 3.18613E-5
19-39592150-G-T p.Gly321Val missense PAPL 108 82900 0.00130277 41450 0 0.00251762
19-39592163-A-C p.Ile367Leu missense PAPL 1 82828 1.20732E-5 41414 0 NA
19-39592167-C-T p.Gln327* stop_gained PAPL 1 82768 1.2082E-5 41384 0 3.9903E-6
19-39592168-A-G p.Gln327Arg missense PAPL 2 82748 2.41698E-5 41374 0 9.47345E-5
19-39592173-C-G p.Ser370Cys missense PAPL 1 82670 1.20963E-5 41335 0 NA
19-39592174-T-C p.Leu329Pro missense PAPL 1 82660 1.20978E-5 41330 0 8.76086E-6
19-39592183-C-G c.1113+6C>G splice_region PAPL 1 82452 1.21283E-5 41226 0 NA
19-39592185-G-C c.1113+8G>C splice_region PAPL 2 82372 2.42801E-5 41186 0 4.01871E-6
19-39597581-C-G c.1114-6C>G splice_region PAPL 1 79886 1.25178E-5 39943 0 NA
19-39597598-G-A p.Ser366Asn missense PAPL 1 80398 1.24381E-5 40199 0 8.37816E-6
19-39597600-G-A p.Arg376Gln missense PAPL 1 80466 1.24276E-5 40233 0 9.65298E-5
19-39597602-C-A p.Leu377Met missense PAPL 2 80508 2.48423E-5 40254 0 4.02088E-6
19-39597609-C-T p.Pro379Leu missense PAPL 1 80720 1.23885E-5 40360 0 4.01655E-6
19-39597616-TGT-GGC p.AlaVal381AlaAla missense PAPL 2 80904 2.47207E-5 40452 0 NA
19-39597617-G-C p.Val382Leu missense PAPL 2 80912 2.47182E-5 40456 0 2.50125E-5
19-39597618-T-C p.Val382Ala missense PAPL 2 80918 2.47164E-5 40459 0 4.01133E-6
19-39597619-C-T p.Val382Val synonymous PAPL 1 80950 1.23533E-5 40475 0 NA
19-39597621-T-C p.Phe383Ser missense PAPL 2 80944 2.47084E-5 40472 0 4.01049E-6
19-39597624-C-T p.Pro384Leu missense PAPL 3 80970 3.70508E-5 40485 0 9.16774E-5
19-39597624-C-G p.Pro384Arg missense PAPL 1 80972 1.23499E-5 40486 0 6.25E-4
19-39597625-G-A p.Pro384Pro synonymous PAPL 2 80924 2.47145E-5 40462 0 3.18654E-5
19-39597629-C-G p.Pro386Ala missense PAPL 1 81018 1.23429E-5 40509 0 NA
19-39597632-T-C p.Trp387Arg missense PAPL 1 81114 1.23283E-5 40557 0 NA
19-39597634-G-A p.Trp387* stop_gained PAPL 2 81176 2.46378E-5 40588 0 1.04193E-4
19-39597640-C-T p.Ala389Ala synonymous PAPL 2 81232 2.46208E-5 40616 0 3.32165E-5
19-39597641-G-A p.Val390Met missense PAPL 3 81242 3.69267E-5 40621 0 4.00647E-5
19-39597645-G-A p.Arg391His missense PAPL 2 81342 2.45875E-5 40671 0 4.15007E-5
19-39597649-G-A p.Val392Val synonymous PAPL 1 81392 1.22862E-5 40696 0 4.00615E-6
19-39597658-C-T p.Tyr395Tyr synonymous PAPL 2 81408 2.45676E-5 40704 0 3.20721E-5
19-39597659-G-T p.Gly396Trp missense PAPL 1 81410 1.22835E-5 40705 0 3.18634E-5
19-39597659-G-A p.Gly396Arg missense PAPL 2 81410 2.4567E-5 40705 0 1.20258E-5
19-39597669-G-A p.Arg399Gln missense PAPL 1 81342 1.22938E-5 40671 0 6.37105E-5
19-39597685-C-T p.Asn404Asn synonymous PAPL 4 81250 4.92308E-5 40625 0 1.60493E-4
19-39597686-G-A p.Gly405Arg missense PAPL 2 81228 2.46221E-5 40614 0 1.20365E-5
19-39597703-C-T p.Ile410Ile synonymous PAPL 1 81104 1.23298E-5 40552 0 NA
19-39597710-G-C p.Val413Leu missense PAPL 1 81006 1.23448E-5 40503 0 NA
19-39597714-C-T p.Ser414Leu missense PAPL 2 80906 2.472E-5 40453 0 4.42083E-5
19-39597715-G-A p.Ser414Ser synonymous PAPL 16 80892 1.97795E-4 40446 0 3.50542E-4
19-39597715-G-C p.Ser414Ser synonymous PAPL 2 80892 2.47243E-5 40446 0 6.37349E-5
19-39597718-C-T p.Asp415Asp synonymous PAPL 2 80850 2.47372E-5 40425 0 8.30055E-6
19-39600687-T-G c.1252-6T>G splice_region PAPL 1 76962 1.29934E-5 38481 0 8.26146E-6
19-39600705-G-A p.Val422Ile missense PAPL 6 77340 7.75795E-5 38670 0 1.27389E-4
19-39600740-C-T p.Gly433Gly synonymous PAPL 5 77486 6.45278E-5 38743 0 5.96787E-5
19-39600741-C-T p.Arg434Trp missense PAPL 3 77418 3.87507E-5 38709 0 2.22618E-4
19-39600742-G-A p.Arg434Gln missense PAPL 10 77428 1.29152E-4 38714 0 1.07194E-4
19-39600753-C-T p.Leu438Phe missense PAPL 2 77340 2.58598E-5 38670 0 NA
19-39600817-G-C c.*109G>C splice_region PAPL 7 75112 9.31942E-5 37556 0 9.5584E-5