Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-233271575-C-T c.-30C>T 5_prime_UTR_premature_start_codon_gain ALPPL2 171 82800 0.00206522 41400 1 0.00501882
2-233271580-C-T c.-25C>T 5_prime_UTR_premature_start_codon_gain ALPPL2 15 82836 1.81081E-4 41418 0 2.86971E-4
2-233271583-C-T c.-22C>T 5_prime_UTR_premature_start_codon_gain ALPPL2 3 82868 3.62022E-5 41434 0 3.18857E-5
2-233271587-C-G c.-18C>G 5_prime_UTR_premature_start_codon_gain ALPPL2 3 82888 3.61934E-5 41444 0 8.6405E-6
2-233271590-C-T c.-15C>T 5_prime_UTR_premature_start_codon_gain ALPPL2 3 82888 3.61934E-5 41444 0 1.62703E-5
2-233271593-C-T c.-12C>T 5_prime_UTR_premature_start_codon_gain ALPPL2 17 82938 2.04972E-4 41469 0 9.56084E-5
2-233271605-A-T p.Met1? initiator_codon ALPPL2 1 82992 1.20494E-5 41496 0 NA
2-233271609-A-T p.Gln2Leu missense ALPPL2 2 82966 2.41063E-5 41483 0 3.1902E-5
2-233271610-G-C p.Gln2His missense ALPPL2 1 82958 1.20543E-5 41479 0 2.52525E-5
2-233271617-T-C p.Trp5Arg missense ALPPL2 1 82956 1.20546E-5 41478 0 NA
2-233271619-G-C p.Trp5Cys missense ALPPL2 1 82958 1.20543E-5 41479 0 NA
2-233271623-C-A p.Leu7Met missense ALPPL2 1 82974 1.2052E-5 41487 0 NA
2-233271628-C-T p.Leu8Leu synonymous ALPPL2 525 82962 0.0063282 41481 12 0.0136085
2-233271628-C-G p.Leu8Leu synonymous ALPPL2 3 82970 3.61576E-5 41485 0 9.58344E-5
2-233271628-C-A p.Leu8Leu synonymous ALPPL2 1 82970 1.20525E-5 41485 0 8.33667E-6
2-233271632-C-T p.Leu10Leu synonymous ALPPL2 2 82986 2.41005E-5 41493 0 7.97544E-6
2-233271635-G-T p.Gly11Cys missense ALPPL2 2 82996 2.40975E-5 41498 0 3.1953E-5
2-233271642-GGCTACA-G p.Gln15_Leu16del disruptive_inframe_deletion ALPPL2 20 83016 2.40917E-4 41508 0 3.83313E-4
2-233271648-A-G p.Gln15Arg missense ALPPL2 5 83040 6.02119E-5 41520 0 1.27845E-4
2-233271667-C-G p.Ile21Met missense ALPPL2 1 83038 1.20427E-5 41519 0 NA
2-233271669-C-A p.Pro22Gln missense+splice_region ALPPL2 27 83050 3.25105E-4 41525 0 1.34067E-4
2-233271759-C-A c.68-8C>A splice_region ALPPL2 2 83118 2.40622E-5 41559 0 NA
2-233271763-C-A c.68-4C>A splice_region ALPPL2 6336 82732 0.0765846 41366 279 0.0838819
2-233271766-G-C c.68-1G>C splice_acceptor ALPPL2 18 83116 2.16565E-4 41558 0 6.25E-4
2-233271768-TGAG-T p.Glu26del conservative_inframe_deletion ALPPL2 5 83104 6.01656E-5 41552 0 3.97972E-6
2-233271780-C-T p.Asn27Asn synonymous ALPPL2 1 83102 1.20334E-5 41551 0 1.19368E-5
2-233271782-C-T p.Pro28Leu missense ALPPL2 1 83084 1.2036E-5 41542 0 8.24416E-6
2-233271783-G-A p.Pro28Pro synonymous ALPPL2 1 83090 1.20351E-5 41545 0 5.04541E-4
2-233271785-A-G p.Asp29Gly missense ALPPL2 1 83096 1.20343E-5 41548 0 8.24538E-6
2-233271792-G-A p.Trp31* stop_gained ALPPL2 4 83100 4.81348E-5 41550 0 8.24498E-6
2-233271796-C-T p.Arg33Cys missense ALPPL2 2 83100 2.40674E-5 41550 0 5.17294E-5
2-233271797-G-C p.Arg33Pro missense ALPPL2 2 83088 2.40709E-5 41544 0 8.24674E-6
2-233271797-G-A p.Arg33His missense ALPPL2 3 83088 3.61063E-5 41544 0 6.38407E-5
2-233271799-C-G p.Gln34Glu missense ALPPL2 94 83028 0.00113215 41514 0 0.0498489
2-233271807-C-T p.Ala36Ala synonymous ALPPL2 3 83096 3.61028E-5 41548 0 3.1904E-5
2-233271808-G-A p.Glu37Lys missense ALPPL2 1 83100 1.20337E-5 41550 0 1.59165E-5
2-233271810-G-A p.Glu37Glu synonymous ALPPL2 13 83124 1.56393E-4 41562 0 0.001875
2-233271822-C-T p.Ala41Ala synonymous ALPPL2 6 83126 7.21796E-5 41563 0 7.42366E-5
2-233271823-G-A p.Ala42Thr missense ALPPL2 1 83112 1.2032E-5 41556 0 1.64965E-5
2-233271824-C-T p.Ala42Val missense ALPPL2 12 83128 1.44356E-4 41564 0 2.86843E-4
2-233271830-A-G p.Lys44Arg missense ALPPL2 1 83166 1.20241E-5 41583 0 6.37755E-5
2-233271837-G-A p.Gln46Gln synonymous ALPPL2 2 83170 2.40471E-5 41585 0 8.24933E-6
2-233271841-GCA-G p.Gln49fs frameshift ALPPL2 1 83172 1.20233E-5 41586 0 3.97924E-6
2-233271842-CACAG-C p.Thr50fs frameshift ALPPL2 1 83168 1.20239E-5 41584 0 NA
2-233271852-C-T p.Ala51Ala synonymous ALPPL2 313 83158 0.00376392 41579 0 0.00950498
2-233271853-G-A p.Ala52Thr missense ALPPL2 8 83166 9.61932E-5 41583 0 0.00151057
2-233271876-G-A p.Leu59Leu synonymous ALPPL2 1 83158 1.20253E-5 41579 0 3.97899E-5
2-233271879-T-A p.Gly60Gly synonymous ALPPL2 1 83148 1.20267E-5 41574 0 3.98527E-6
2-233271879-T-C p.Gly60Gly synonymous ALPPL2 27 83092 3.24941E-4 41546 0 0.00253263
2-233271882-C-T p.Asp61Asp splice_region+synonymous ALPPL2 33 83092 3.9715E-4 41546 0 0.00257371
2-233271883-G-C p.Gly62Arg missense+splice_region ALPPL2 1 83138 1.20282E-5 41569 0 NA
2-233271996-G-T p.Gly62Val missense+splice_region ALPPL2 3 83004 3.61428E-5 41502 0 7.56038E-5
2-233272001-G-C p.Gly64Arg missense ALPPL2 1 82996 1.20488E-5 41498 0 6.37308E-5
2-233272011-C-T p.Thr67Met missense ALPPL2 3 82938 3.61716E-5 41469 0 4.12385E-5
2-233272012-G-A p.Thr67Thr synonymous ALPPL2 18 82934 2.1704E-4 41467 0 3.13412E-4
2-233272013-G-A p.Val68Met missense ALPPL2 1 82942 1.20566E-5 41471 0 3.97931E-6
2-233272029-T-C p.Ile73Thr missense ALPPL2 101 82944 0.00121769 41472 0 0.00328591
2-233272029-T-A p.Ile73Asn missense ALPPL2 1 82946 1.2056E-5 41473 0 NA
2-233272045-G-C p.Lys78Asn missense ALPPL2 1 82944 1.20563E-5 41472 0 NA
2-233272050-A-G p.Asp80Gly missense ALPPL2 1 82948 1.20557E-5 41474 0 1.65046E-5
2-233272058-G-C p.Gly83Arg missense ALPPL2 1 82956 1.20546E-5 41478 0 NA
2-233272066-G-A p.Glu85Glu synonymous ALPPL2 3 82994 3.61472E-5 41497 0 6.37389E-5
2-233272067-A-T p.Thr86Ser missense ALPPL2 4 82994 4.81963E-5 41497 0 3.18433E-4
2-233272071-T-C p.Phe87Ser missense ALPPL2 1 83004 1.20476E-5 41502 0 NA
2-233272077-C-T p.Ala89Val missense ALPPL2 2 83024 2.40894E-5 41512 0 4.13976E-5
2-233272083-A-T p.Asp91Val missense ALPPL2 1 83050 1.20409E-5 41525 0 NA
2-233272085-C-T p.Arg92Cys missense ALPPL2 2 83028 2.40883E-5 41514 0 1.19421E-5
2-233272086-G-A p.Arg92His missense ALPPL2 3 83032 3.61306E-5 41516 0 3.18796E-5
2-233272091-C-T p.Pro94Ser missense ALPPL2 616 83032 0.00741883 41516 4 0.00722118
2-233272093-G-A p.Pro94Pro synonymous ALPPL2 8 83052 9.63252E-5 41526 0 7.96495E-5
2-233272093-G-T p.Pro94Pro synonymous ALPPL2 2 83054 2.40807E-5 41527 0 1.67406E-5
2-233272095-A-T p.Tyr95Phe missense ALPPL2 292 83066 0.00351528 41533 2 0.00682007
2-233272096-C-T p.Tyr95Tyr synonymous ALPPL2 35 83056 4.21402E-4 41528 3 0.00134391
2-233272097-G-T p.Val96Leu missense ALPPL2 1 83052 1.20406E-5 41526 0 6.3743E-5
2-233272097-G-A p.Val96Met missense ALPPL2 5 83052 6.02032E-5 41526 0 6.25E-4
2-233272108-C-A p.Ser99Ser synonymous ALPPL2 2 83088 2.40709E-5 41544 1 NA
2-233272115-A-C c.300+4A>C splice_region ALPPL2 1 83064 1.20389E-5 41532 0 NA
2-233272116-G-A c.300+5G>A splice_region ALPPL2 3 83056 3.61202E-5 41528 0 9.56267E-5
2-233272299-C-G c.301-5C>G splice_region ALPPL2 1 83070 1.2038E-5 41535 0 4.17098E-5
2-233272305-C-T p.Thr101Ile missense+splice_region ALPPL2 6 83090 7.22109E-5 41545 0 6.68875E-4
2-233272306-A-AT p.Tyr102fs frameshift ALPPL2 1 83096 1.20343E-5 41548 0 NA
2-233272307-TAC-T p.Tyr102fs frameshift ALPPL2 1 83098 1.2034E-5 41549 0 3.99042E-6
2-233272308-A-T p.Tyr102Phe missense ALPPL2 1 83100 1.20337E-5 41550 0 NA
2-233272309-C-G p.Tyr102* stop_gained ALPPL2 2 83104 2.40662E-5 41552 0 4.38971E-5
2-233272310-A-G p.Ser103Gly missense ALPPL2 1 83104 1.20331E-5 41552 0 NA
2-233272311-G-A p.Ser103Asn missense ALPPL2 9 83066 1.08348E-4 41533 0 0.00100806
2-233272313-G-A p.Val104Ile missense ALPPL2 1 83096 1.20343E-5 41548 0 8.30965E-6
2-233272321-G-A p.Lys106Lys synonymous ALPPL2 2 83082 2.40726E-5 41541 0 6.14587E-4
2-233272328-C-T p.Pro109Ser missense ALPPL2 1 83102 1.20334E-5 41551 0 2.39139E-5
2-233272328-C-A p.Pro109Thr missense ALPPL2 2 83102 2.40668E-5 41551 0 NA
2-233272331-G-C p.Asp110His missense ALPPL2 1 83120 1.20308E-5 41560 0 4.15048E-5
2-233272333-C-G p.Asp110Glu missense ALPPL2 1 83116 1.20314E-5 41558 0 NA
2-233272343-A-G p.Thr114Ala missense ALPPL2 1 83134 1.20288E-5 41567 0 3.9841E-6
2-233272351-G-A p.Thr116Thr synonymous ALPPL2 4 83138 4.81128E-5 41569 0 5.04032E-4
2-233272360-G-C p.Leu119Leu synonymous ALPPL2 2 83108 2.40651E-5 41554 0 3.98264E-6
2-233272361-T-A p.Cys120Ser missense ALPPL2 3 83106 3.60985E-5 41553 0 0.00125
2-233272363-C-T p.Cys120Cys synonymous ALPPL2 9 83094 1.08311E-4 41547 0 3.98333E-5
2-233272364-G-A p.Gly121Arg missense ALPPL2 4 83108 4.81301E-5 41554 0 6.64408E-5
2-233272365-G-A p.Gly121Glu missense ALPPL2 1 83106 1.20328E-5 41553 0 3.18552E-5
2-233272366-G-T p.Gly121Gly synonymous ALPPL2 3 83102 3.61002E-5 41551 0 NA
2-233272367-G-A p.Val122Ile missense ALPPL2 1 83102 1.20334E-5 41551 0 NA
2-233272370-A-C p.Lys123Gln missense ALPPL2 1 83094 1.20346E-5 41547 0 3.98251E-6
2-233272373-G-A p.Gly124Ser missense ALPPL2 5 83070 6.01902E-5 41535 0 2.38989E-5
2-233272390-T-C p.Ile129Ile synonymous ALPPL2 1 83016 1.20459E-5 41508 0 8.32653E-6
2-233272391-G-A p.Gly130Ser missense ALPPL2 1 83016 1.20459E-5 41508 0 NA
2-233272406-G-A p.Ala135Thr missense ALPPL2 9 82918 1.08541E-4 41459 0 6.3935E-5
2-233272409-C-T p.Arg136Cys missense ALPPL2 1 82962 1.20537E-5 41481 0 4.39416E-5
2-233272410-G-T p.Arg136Leu missense ALPPL2 9 82952 1.08496E-4 41476 0 0.00201816
2-233272410-G-A p.Arg136His missense ALPPL2 1 82952 1.20552E-5 41476 0 3.18654E-5
2-233272411-CT-C p.Phe137fs frameshift ALPPL2 1 82954 1.20549E-5 41477 0 NA
2-233272422-G-A p.Cys140Tyr missense ALPPL2 2 82960 2.4108E-5 41480 0 4.79172E-5
2-233272428-C-T p.Thr142Met missense ALPPL2 3 82952 3.61655E-5 41476 0 0.00100806
2-233272433-C-T p.Arg144Cys missense ALPPL2 1 82958 1.20543E-5 41479 0 8.35199E-6
2-233272434-G-A p.Arg144His missense ALPPL2 3 82962 3.61611E-5 41481 0 3.18613E-5
2-233272435-C-T p.Arg144Arg synonymous ALPPL2 1 82966 1.20531E-5 41483 0 4.17704E-5
2-233272436-G-A p.Gly145Ser missense ALPPL2 1 82986 1.20502E-5 41493 0 3.34213E-5
2-233272442-G-C p.Glu147Gln missense ALPPL2 1 83012 1.20465E-5 41506 0 NA
2-233272442-G-A p.Glu147Lys missense ALPPL2 1 83012 1.20465E-5 41506 0 2.50589E-5
2-233272446-T-C p.Val148Ala missense ALPPL2 1 82998 1.20485E-5 41499 0 8.34711E-6
2-233272447-C-T p.Val148Val synonymous ALPPL2 1 83008 1.2047E-5 41504 0 8.34697E-6
2-233272453-C-T p.Ser150Ser synonymous ALPPL2 530 82998 0.0063857 41499 2 0.008285
2-233272454-G-A p.Val151Met missense ALPPL2 2 83048 2.40825E-5 41524 0 2.39483E-5
2-233272463-C-T p.Arg154Trp missense ALPPL2 3 83078 3.61106E-5 41539 0 6.6759E-5
2-233272486-G-A c.475+8G>A splice_region ALPPL2 6 83080 7.22195E-5 41540 0 1.1964E-5
2-233272552-C-T c.476-3C>T splice_region ALPPL2 1 82966 1.20531E-5 41483 0 1.19508E-5
2-233272556-A-G p.Gly159Gly splice_region+synonymous ALPPL2 1 82994 1.20491E-5 41497 0 3.98337E-6
2-233272556-A-T p.Gly159Gly splice_region+synonymous ALPPL2 2 82994 2.40981E-5 41497 0 NA
2-233272560-T-A p.Ser161Thr missense ALPPL2 3 82958 3.61629E-5 41479 0 0.0026138
2-233272584-C-T p.Arg169Trp missense ALPPL2 4 82954 4.82195E-5 41477 0 3.18512E-5
2-233272589-G-A p.Val170Val synonymous ALPPL2 4 82952 4.82207E-5 41476 0 5.80595E-5
2-233272592-G-T p.Gln171His missense ALPPL2 1 82964 1.20534E-5 41482 0 3.9841E-6
2-233272595-T-C p.His172His synonymous ALPPL2 450 82946 0.00542522 41473 7 0.00654582
2-233272600-C-T p.Ser174Leu missense ALPPL2 1 82966 1.20531E-5 41483 0 3.18715E-5
2-233272601-G-A p.Ser174Ser synonymous ALPPL2 2 82960 2.4108E-5 41480 0 1.99252E-5
2-233272607-C-T p.Ala176Ala synonymous ALPPL2 8 82988 9.63995E-5 41494 0 0.00125
2-233272608-G-A p.Gly177Ser missense ALPPL2 1 82984 1.20505E-5 41492 0 4.14718E-5
2-233272610-C-T p.Gly177Gly synonymous ALPPL2 1 82970 1.20525E-5 41485 0 3.98429E-6
2-233272611-G-A p.Ala178Thr missense ALPPL2 8 82956 9.64367E-5 41478 0 1.07843E-4
2-233272616-C-T p.Tyr179Tyr synonymous ALPPL2 558 82960 0.00672613 41480 4 0.00971957
2-233272617-G-A p.Ala180Thr missense ALPPL2 10 82964 1.20534E-4 41482 0 1.91168E-4
2-233272620-C-T p.His181Tyr missense ALPPL2 1 82966 1.20531E-5 41483 0 3.18573E-5
2-233272621-A-G p.His181Arg missense ALPPL2 2 82954 2.41097E-5 41477 0 6.37146E-5
2-233272624-C-T p.Thr182Met missense ALPPL2 2 82952 2.41103E-5 41476 0 3.31895E-5
2-233272624-C-G p.Thr182Arg missense ALPPL2 1 82952 1.20552E-5 41476 0 NA
2-233272631-C-T p.Asn184Asn synonymous ALPPL2 3 82944 3.6169E-5 41472 0 4.78221E-5
2-233272631-C-A p.Asn184Lys missense ALPPL2 2 82944 2.41127E-5 41472 0 3.98518E-6
2-233272632-C-T p.Arg185Cys missense ALPPL2 1 82940 1.20569E-5 41470 0 3.9853E-6
2-233272633-G-A p.Arg185His missense ALPPL2 1 82936 1.20575E-5 41468 0 2.49E-5
2-233272642-A-G p.Tyr188Cys missense ALPPL2 2 82916 2.41208E-5 41458 0 7.97372E-6
2-233272646-G-A p.Ser189Ser synonymous ALPPL2 1 82912 1.2061E-5 41456 0 8.30786E-6
2-233272648-A-C p.Asp190Ala missense ALPPL2 1 82910 1.20613E-5 41455 0 NA
2-233272649-T-C p.Asp190Asp synonymous ALPPL2 163 82860 0.00196717 41430 0 0.00625782
2-233272652-C-T p.Ala191Ala synonymous ALPPL2 1 82874 1.20665E-5 41437 0 5.03525E-4
2-233272652-C-G p.Ala191Ala synonymous ALPPL2 1 82874 1.20665E-5 41437 0 NA
2-233272653-G-A p.Asp192Asn missense ALPPL2 2 82886 2.41295E-5 41443 0 5.8155E-5
2-233272655-C-A p.Asp192Glu missense ALPPL2 1 82880 1.20656E-5 41440 0 NA
2-233272656-G-A p.Val193Met missense ALPPL2 1 82884 1.20651E-5 41442 0 5.03525E-4
2-233272663-C-A p.Ala195Asp missense ALPPL2 1 82902 1.20624E-5 41451 0 NA
2-233272666-C-T p.Ser196Leu missense ALPPL2 6 82886 7.23886E-5 41443 0 2.49401E-5
2-233272667-G-A p.Ser196Ser synonymous ALPPL2 9 82868 1.08606E-4 41434 0 9.56084E-5
2-233272671-C-T p.Arg198Cys missense ALPPL2 3 82880 3.61969E-5 41440 0 1.66351E-5
2-233272672-G-A p.Arg198His missense ALPPL2 2 82854 2.41388E-5 41427 0 5.03525E-4
2-233272694-C-T p.Ile205Ile synonymous ALPPL2 5 82756 6.04186E-5 41378 0 9.56267E-5
2-233272695-G-A p.Ala206Thr missense ALPPL2 1 82706 1.2091E-5 41353 0 5.03525E-4
2-233272697-C-T p.Ala206Ala synonymous ALPPL2 9 82694 1.08835E-4 41347 0 0.003125
2-233272699-C-T p.Thr207Met missense ALPPL2 2 82664 2.41943E-5 41332 0 9.56267E-5
2-233272700-G-T p.Thr207Thr synonymous ALPPL2 265 82628 0.00320715 41314 2 0.00669472
2-233272700-G-A p.Thr207Thr synonymous ALPPL2 5 82640 6.05034E-5 41320 0 4.20727E-5
2-233272700-G-C p.Thr207Thr synonymous ALPPL2 20 82642 2.42008E-4 41321 0 8.51584E-4
2-233272701-C-A p.Gln208Lys missense ALPPL2 1 82620 1.21036E-5 41310 0 1.20001E-5
2-233272707-A-G p.Ile210Val missense ALPPL2 2 82578 2.42195E-5 41289 0 3.18857E-5
2-233272717-T-C p.Met213Thr missense ALPPL2 1 82384 1.21383E-5 41192 0 4.26745E-5
2-233272719-G-A p.Asp214Asn missense ALPPL2 2 82330 2.42925E-5 41165 0 1.59378E-4
2-233272720-A-C p.Asp214Ala missense ALPPL2 2 82282 2.43067E-5 41141 0 3.18898E-5
2-233272722-A-G p.Ile215Val missense ALPPL2 2 82252 2.43155E-5 41126 0 NA
2-233272727-T-G p.Asp216Glu missense+splice_region ALPPL2 1 82074 1.21841E-5 41037 0 4.05874E-6
2-233272727-T-C p.Asp216Asp splice_region+synonymous ALPPL2 3 82062 3.65577E-5 41031 0 5.03525E-4
2-233272730-G-A c.648+3G>A splice_region ALPPL2 1 81896 1.22106E-5 40948 0 1.22858E-5
2-233272731-C-G c.648+4C>G splice_region ALPPL2 6 81782 7.33658E-5 40891 0 1.59368E-4
2-233272731-C-T c.648+4C>T splice_region ALPPL2 2 81782 2.44553E-5 40891 0 8.20957E-6
2-233272735-C-T c.648+8C>T splice_region ALPPL2 1 81660 1.22459E-5 40830 0 4.12933E-6
2-233272976-G-T c.649-1G>T splice_acceptor ALPPL2 1 83228 1.20152E-5 41614 0 NA
2-233272996-G-A p.Arg223Gln missense ALPPL2 10 83248 1.20123E-4 41624 0 3.19652E-5
2-233273011-C-G p.Pro228Arg missense ALPPL2 2906 73684 0.0394387 36842 340 0.108125
2-233273018-G-A p.Gly230Gly synonymous ALPPL2 4369 76526 0.0570917 38263 376 0.1075
2-233273022-C-T p.Pro232Ser missense ALPPL2 3 83198 3.60586E-5 41599 0 6.61967E-5
2-233273065-G-A p.Arg246Lys missense ALPPL2 1 82986 1.20502E-5 41493 0 NA
2-233273072-C-T p.Asp248Asp synonymous ALPPL2 3 82872 3.62004E-5 41436 0 1.98121E-4
2-233273073-G-A p.Gly249Arg missense ALPPL2 2 82844 2.41418E-5 41422 0 6.62778E-5
2-233273087-G-T p.Val253Val synonymous ALPPL2 1 82424 1.21324E-5 41212 0 NA
2-233273091-G-C p.Glu255Gln missense ALPPL2 1 82258 1.21569E-5 41129 0 6.85025E-5
2-233273095-G-A p.Trp256* stop_gained ALPPL2 1 82026 1.21913E-5 41013 0 3.47198E-5
2-233273096-G-C p.Trp256Cys missense ALPPL2 1 81918 1.22073E-5 40959 0 8.31172E-6
2-233273101-C-T p.Ala258Val missense ALPPL2 3 80866 3.70984E-5 40433 1 7.15512E-5
2-233273102-G-A p.Ala258Ala synonymous ALPPL2 1 80774 1.23802E-5 40387 0 3.54183E-5
2-233273107-A-G p.His260Arg missense ALPPL2 453 65414 0.00692512 32707 159 0.182002
2-233273112-G-A c.783+1G>A splice_donor ALPPL2 3 78926 3.80103E-5 39463 0 NA
2-233273113-T-A c.783+2T>A splice_donor ALPPL2 1 78646 1.27152E-5 39323 0 8.96636E-6
2-233273115-A-G c.783+4A>G splice_region ALPPL2 2 78374 2.55187E-5 39187 0 8.91758E-6
2-233273119-G-T c.783+8G>T splice_region ALPPL2 2 77888 2.56779E-5 38944 1 NA
2-233273207-G-A c.784-4G>A splice_region ALPPL2 513 62212 0.008246 31106 60 0.316923
2-233273208-C-G c.784-3C>G splice_region ALPPL2 1 79816 1.25288E-5 39908 0 NA
2-233273216-C-G p.Ala263Ala synonymous ALPPL2 1 79852 1.25232E-5 39926 0 NA
2-233273218-G-A p.Arg264Gln missense ALPPL2 4 79864 5.00851E-5 39932 1 5.04032E-4
2-233273219-G-A p.Arg264Arg synonymous ALPPL2 477 79762 0.00598029 39881 32 0.0147356
2-233273222-C-T p.Tyr265Tyr synonymous ALPPL2 1 79874 1.25197E-5 39937 0 1.09051E-4
2-233273224-T-C p.Val266Ala missense ALPPL2 1 79846 1.25241E-5 39923 0 4.01178E-6
2-233273231-C-A p.Asn268Lys missense ALPPL2 3 79528 3.77226E-5 39764 0 1.75463E-4
2-233273232-C-T p.Arg269Cys missense ALPPL2 5 79448 6.29342E-5 39724 0 0.00125313
2-233273233-G-A p.Arg269His missense ALPPL2 21 79330 2.64717E-4 39665 0 0.00201613
2-233273240-G-A p.Glu271Glu synonymous ALPPL2 1 78946 1.26669E-5 39473 0 2.6101E-5
2-233273244-C-A p.Leu273Met missense ALPPL2 12720 61144 0.208034 30572 3701 0.355614
2-233273253-T-A p.Ser276Thr missense ALPPL2 1 78178 1.27913E-5 39089 0 8.79569E-6
2-233273259-G-A p.Asp278Asn missense ALPPL2 6 77736 7.71843E-5 38868 0 4.4011E-5
2-233273263-C-T p.Pro279Leu missense ALPPL2 6 77484 7.74353E-5 38742 1 2.15723E-4
2-233273284-G-T c.856+1G>T splice_donor ALPPL2 1 76412 1.30869E-5 38206 0 NA
2-233273288-T-G c.856+5T>G splice_region ALPPL2 19 75840 2.50527E-4 37920 0 0.00381736
2-233273291-C-T c.856+8C>T splice_region ALPPL2 143 70026 0.0020421 35013 1 0.0781038
2-233273291-C-A c.856+8C>A splice_region ALPPL2 1 75916 1.31725E-5 37958 0 1.88519E-5
2-233273418-CTT-C p.Phe288fs frameshift ALPPL2 3 65544 4.57708E-5 32772 0 4.77646E-5
2-233273427-TGGAGAC-T p.Gly291_Asp292del conservative_inframe_deletion ALPPL2 1 63648 1.57114E-5 31824 0 NA
2-233273428-G-GTTTTTT p.Gly291delinsValPheTer stop_gained ALPPL2 1 63436 1.57639E-5 31718 0 NA
2-233273429-G-GTTTTTT p.Gly291_Asp292insPheLeu disruptive_inframe_insertion ALPPL2 54 63056 8.56382E-4 31528 0 1.20948E-4
2-233273430-AGAC-A p.Asp292del conservative_inframe_deletion ALPPL2 49 62870 7.79386E-4 31435 0 1.66113E-4
2-233273433-C-CTTTTTTTTA p.Asp292_Met293insPhePheLeu conservative_inframe_insertion ALPPL2 1 62400 1.60256E-5 31200 0 NA
2-233273436-GAA-G p.Lys294fs frameshift ALPPL2 66 61510 0.001073 30755 0 1.55763E-4
2-233273442-C-CG p.Glu296fs frameshift ALPPL2 75 59286 0.00126505 29643 0 1.68919E-4
2-233273444-A-C p.Glu296Ala missense ALPPL2 39 58302 6.68931E-4 29151 0 2.34962E-4
2-233273446-AT-A p.Ile297fs frameshift ALPPL2 79 57684 0.00136953 28842 0 1.86254E-4
2-233273456-AC-A p.Ser301fs frameshift ALPPL2 81 52154 0.00155309 26077 0 2.83849E-4
2-233273460-C-T p.Ser301Ser synonymous ALPPL2 30 50854 5.89924E-4 25427 0 2.10438E-4
2-233273478-G-C p.Leu307Leu synonymous ALPPL2 3 42906 6.99203E-5 21453 0 8.86054E-5
2-233273504-T-G p.Leu316Arg missense ALPPL2 368 13984 0.0263158 6992 56 0.562774
2-233273642-G-C p.Asp335His missense ALPPL2 1 13524 7.39426E-5 6762 0 NA
2-233273668-T-C p.Ala343Ala synonymous ALPPL2 1 11582 8.63409E-5 5791 0 2.8335E-5
2-233273709-T-C p.Ile357Thr missense ALPPL2 1 9694 1.03157E-4 4847 0 1.43732E-5
2-233273756-G-C p.Val373Leu missense ALPPL2 1 9448 1.05843E-4 4724 0 NA
2-233273756-G-A p.Val373Ile missense ALPPL2 1 9448 1.05843E-4 4724 0 4.94267E-5
2-233273804-C-T p.Arg389* stop_gained ALPPL2 2 11206 1.78476E-4 5603 0 2.06761E-4
2-233274034-C-G c.1184-8C>G splice_region ALPPL2 1 73040 1.36911E-5 36520 0 NA
2-233274039-C-A c.1184-3C>A splice_region ALPPL2 4 73232 5.46209E-5 36616 0 0.00131234
2-233274043-G-A p.Gly395Gly splice_region+synonymous ALPPL2 1 73512 1.36032E-5 36756 0 NA
2-233274046-G-A p.Leu396Leu synonymous ALPPL2 1 73918 1.35285E-5 36959 0 4.94986E-6
2-233274049-C-T p.Ala397Ala synonymous ALPPL2 1 74054 1.35037E-5 37027 0 NA
2-233274074-G-A p.Ala406Thr missense ALPPL2 8 75620 1.05792E-4 37810 0 0.00160944
2-233274076-C-T p.Ala406Ala synonymous ALPPL2 1 75738 1.32034E-5 37869 0 NA
2-233274085-C-T p.Val409Val synonymous ALPPL2 1 76164 1.31296E-5 38082 0 6.44634E-5
2-233274119-A-G p.Lys421Glu missense ALPPL2 3 77440 3.87397E-5 38720 0 1.78979E-4
2-233274124-C-T p.Asp422Asp synonymous ALPPL2 1 77392 1.29212E-5 38696 0 5.59961E-6
2-233274125-G-C p.Gly423Arg missense ALPPL2 55 77302 7.11495E-4 38651 1 0.00261854
2-233274125-G-A p.Gly423Ser missense ALPPL2 1 77390 1.29216E-5 38695 0 6.70436E-5
2-233274128-G-A p.Ala424Thr missense ALPPL2 136 77276 0.00175993 38638 0 0.00677918
2-233274132-G-C p.Arg425Pro missense ALPPL2 2 77428 2.58304E-5 38714 0 1.39558E-4
2-233274136-G-A p.Pro426Pro synonymous ALPPL2 5 77636 6.44031E-5 38818 0 4.24927E-5
2-233274145-G-C p.Thr429Thr synonymous ALPPL2 21238 27506 0.772122 13753 8926 0.836469
2-233274145-G-T p.Thr429Thr synonymous ALPPL2 3 77694 3.8613E-5 38847 0 1.07244E-4
2-233274145-G-A p.Thr429Thr synonymous ALPPL2 3 77710 3.86051E-5 38855 0 9.63534E-5
2-233274146-G-A p.Glu430Lys missense ALPPL2 5 77774 6.42888E-5 38887 1 6.28141E-4
2-233274157-C-G p.Ser433Arg missense+splice_region ALPPL2 1 78388 1.27571E-5 39194 0 NA
2-233274162-A-G c.1300+4A>G splice_region ALPPL2 2 78946 2.53338E-5 39473 0 NA
2-233274163-G-A c.1300+5G>A splice_region ALPPL2 1 79030 1.26534E-5 39515 0 3.29489E-5
2-233274164-T-G c.1300+6T>G splice_region ALPPL2 5 79030 6.32671E-5 39515 0 1.76187E-4
2-233274279-A-C c.1301-5A>C splice_region ALPPL2 1 82350 1.21433E-5 41175 0 8.81057E-6
2-233274281-C-T c.1301-3C>T splice_region ALPPL2 1 82330 1.21462E-5 41165 0 NA
2-233274288-C-T p.Ser435Ser synonymous ALPPL2 1 82222 1.21622E-5 41111 0 NA
2-233274289-C-T p.Pro436Ser missense ALPPL2 1 82224 1.21619E-5 41112 0 3.19203E-5
2-233274291-C-T p.Pro436Pro synonymous ALPPL2 2 82174 2.43386E-5 41087 0 1.21151E-5
2-233274300-G-A p.Arg439Arg synonymous ALPPL2 2 81908 2.44176E-5 40954 0 4.04413E-6
2-233274306-G-A p.Gln441Gln synonymous ALPPL2 3 81658 3.67386E-5 40829 0 8.77332E-6
2-233274306-G-T p.Gln441His missense ALPPL2 1 81658 1.22462E-5 40829 0 NA
2-233274314-T-C p.Val444Ala missense ALPPL2 1 81402 1.22847E-5 40701 0 1.75713E-5
2-233274316-C-T p.Pro445Ser missense ALPPL2 21 81300 2.58303E-4 40650 0 3.19305E-5
2-233274319-C-T p.Leu446Leu synonymous ALPPL2 3 81250 3.69231E-5 40625 0 8.8039E-6
2-233274324-C-T p.Asp447Asp synonymous ALPPL2 2 80804 2.47513E-5 40402 0 3.19326E-5
2-233274324-C-G p.Asp447Glu missense ALPPL2 1 80804 1.23756E-5 40402 0 3.19326E-5
2-233274326-G-A p.Gly448Glu missense ALPPL2 26 80634 3.22445E-4 40317 1 7.05928E-4
2-233274327-A-G p.Gly448Gly synonymous ALPPL2 6 80646 7.43992E-5 40323 0 7.06152E-5
2-233274330-G-A p.Glu449Glu synonymous ALPPL2 1 80534 1.24171E-5 40267 0 NA
2-233274336-C-T p.His451His synonymous ALPPL2 2 80212 2.49339E-5 40106 0 8.90837E-6
2-233274349-G-A p.Val456Met missense ALPPL2 1 79298 1.26107E-5 39649 0 1.81683E-5
2-233274353-C-T p.Ala457Val missense ALPPL2 1 79092 1.26435E-5 39546 0 1.83972E-5
2-233274366-CG-C p.Gly462fs frameshift ALPPL2 44 78482 5.60638E-4 39241 0 0.00100806
2-233274367-G-T p.Gly462Cys missense ALPPL2 1 78484 1.27415E-5 39242 0 4.15949E-6
2-233274372-G-A p.Pro463Pro synonymous ALPPL2 3 78560 3.81874E-5 39280 0 4.17373E-6
2-233274384-G-A p.Leu467Leu synonymous ALPPL2 64 78722 8.12987E-4 39361 0 0.00259101
2-233274390-C-A p.His469Gln missense ALPPL2 2 78698 2.54136E-5 39349 0 NA
2-233274391-G-A p.Gly470Ser missense ALPPL2 1 78708 1.27052E-5 39354 0 3.20184E-5
2-233274395-T-A p.Val471Glu missense ALPPL2 6 78628 7.63087E-5 39314 0 6.92864E-5
2-233274402-G-A p.Glu473Glu synonymous ALPPL2 3 78624 3.81563E-5 39312 0 NA
2-233274403-C-G p.Gln474Glu missense ALPPL2 1 78648 1.27149E-5 39324 0 NA
2-233274419-A-G p.His479Arg missense ALPPL2 1 78206 1.27867E-5 39103 0 NA
2-233274432-C-T p.Phe483Phe synonymous ALPPL2 4 77470 5.16329E-5 38735 0 2.55554E-5
2-233274435-C-T p.Ala484Ala synonymous ALPPL2 1 77224 1.29493E-5 38612 0 3.20164E-5
2-233274444-G-A p.Leu487Leu synonymous ALPPL2 2 77084 2.59457E-5 38542 0 3.19918E-5
2-233274447-G-C p.Glu488Asp missense ALPPL2 55 76904 7.15177E-4 38452 0 7.35388E-4
2-233274454-AC-A p.Ala492fs frameshift ALPPL2 1 76504 1.30712E-5 38252 0 3.20205E-5
2-233274456-C-G p.Thr491Thr synonymous ALPPL2 1 76526 1.30675E-5 38263 0 1.28884E-5
2-233274458-C-T p.Ala492Val missense ALPPL2 20 76406 2.6176E-4 38203 0 1.80941E-4
2-233274466-C-G p.Leu495Val missense ALPPL2 2 76302 2.62116E-5 38151 0 3.19489E-5
2-233274470-C-T p.Ala496Val missense ALPPL2 2 76000 2.63158E-5 38000 0 3.19693E-5
2-233274474-C-G p.Pro497Pro synonymous ALPPL2 1 76082 1.31437E-5 38041 0 NA
2-233274475-C-A p.Arg498Ser missense ALPPL2 5906 75348 0.078383 37674 291 0.102124
2-233274476-G-C p.Arg498Pro missense ALPPL2 4033 71538 0.0563756 35769 236 0.100806
2-233274480-C-T p.Ala499Ala synonymous ALPPL2 3 75884 3.9534E-5 37942 0 1.31265E-5
2-233274481-G-C p.Gly500Arg missense ALPPL2 3 75762 3.95977E-5 37881 0 6.39223E-5
2-233274482-G-A p.Gly500Asp missense ALPPL2 47 75778 6.20233E-4 37889 0 0.00706357
2-233274482-G-GC p.Thr501fs frameshift ALPPL2 1 75778 1.31964E-5 37889 0 NA
2-233274489-C-T p.Thr502Thr synonymous ALPPL2 5 75850 6.59196E-5 37925 0 6.38774E-5
2-233274489-C-A p.Thr502Thr synonymous ALPPL2 2 75850 2.63678E-5 37925 1 5.04541E-4
2-233274492-C-T p.Asp503Asp synonymous ALPPL2 1 75758 1.31999E-5 37879 0 NA
2-233274498-G-A p.Ala505Ala synonymous ALPPL2 1 75446 1.32545E-5 37723 0 2.45924E-5
2-233274500-AC-A p.Pro507fs frameshift ALPPL2 2 75502 2.64894E-5 37751 0 4.54533E-6
2-233274503-C-T p.Pro507Leu missense ALPPL2 6 75662 7.93E-5 37831 0 5.04541E-4
2-233274509-C-G p.Pro509Arg missense ALPPL2 5926 73304 0.0808414 36652 382 0.133838
2-233274512-C-T p.Ser510Phe missense ALPPL2 1 76142 1.31334E-5 38071 0 NA
2-233274522-C-T p.Pro513Pro synonymous ALPPL2 1 76866 1.30097E-5 38433 0 3.19142E-5
2-233274543-A-C p.Ala520Ala synonymous ALPPL2 2 78100 2.56082E-5 39050 0 2.23642E-4
2-233274546-G-T p.Gly521Gly synonymous ALPPL2 3 78180 3.8373E-5 39090 0 1.79398E-5
2-233274550-T-C p.Leu523Leu synonymous ALPPL2 1 78310 1.27698E-5 39155 0 1.59561E-4
2-233274560-T-C p.Leu526Pro missense ALPPL2 1 78294 1.27724E-5 39147 0 NA
2-233274560-T-G p.Leu526Arg missense ALPPL2 1 78292 1.27727E-5 39146 0 3.19346E-5
2-233274563-G-A p.Gly527Glu missense ALPPL2 7 78196 8.95186E-5 39098 0 1.11762E-4