Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
16-8768558-G-T c.-52G>T 5_prime_UTR_premature_start_codon_gain ABAT 1 396 0.00252525 198 0 0.00197691
16-8806903-T-C c.-861T>C 5_prime_UTR_premature_start_codon_gain ABAT 2 2944 6.79348E-4 1472 0 NA
16-8806922-A-G c.-289+3A>G splice_region ABAT 470 2900 0.162069 1450 37 0.151062
16-8807100-G-T c.-664G>T 5_prime_UTR_premature_start_codon_gain ABAT 1760 2468 0.713128 1234 609 0.712956
16-8807130-C-A c.-634C>A 5_prime_UTR_premature_start_codon_gain ABAT 1 2948 3.39213E-4 1474 0 NA
16-8807466-C-T c.-298C>T 5_prime_UTR_premature_start_codon_gain ABAT 1 8668 1.15367E-4 4334 0 6.37471E-5
16-8807525-C-G c.-239C>G 5_prime_UTR_premature_start_codon_gain ABAT 8 9794 8.16827E-4 4897 0 0.0015615
16-8807571-C-T c.-193C>T 5_prime_UTR_premature_start_codon_gain ABAT 454 10724 0.042335 5362 2 0.0485372
16-8807688-C-T c.-76C>T 5_prime_UTR_premature_start_codon_gain ABAT 1 11948 8.3696E-5 5974 0 9.28333E-5
16-8807698-C-T c.-66C>T 5_prime_UTR_premature_start_codon_gain ABAT 22 11950 0.001841 5975 0 0.00538148
16-8807708-C-T c.-56C>T 5_prime_UTR_premature_start_codon_gain ABAT 1 11952 8.3668E-5 5976 0 9.26269E-5
16-8807723-G-A c.-42+1G>A splice_donor ABAT 1 11952 8.3668E-5 5976 0 2.29716E-5
16-8807740-T-A c.4+4T>A splice_region ABAT 3 11956 2.5092E-4 5978 0 3.06232E-4
16-8814576-G-A c.-257G>A 5_prime_UTR_premature_start_codon_gain ABAT 1 2924 3.41997E-4 1462 0 NA
16-8814606-A-T c.-227A>T 5_prime_UTR_premature_start_codon_gain ABAT 1 2938 3.40368E-4 1469 0 3.1837E-5
16-8814671-C-T c.-162C>T 5_prime_UTR_premature_start_codon_gain ABAT 1 2944 3.39674E-4 1472 0 NA
16-8814764-A-T c.-69A>T 5_prime_UTR_premature_start_codon_gain ABAT 1 2938 3.40368E-4 1469 0 0.0019423
16-8816691-A-G p.Gln2Arg missense ABAT 1 33250 3.00752E-5 16625 0 9.55353E-5
16-8816697-G-A p.Arg4Gln missense+splice_region ABAT 25 33252 7.51834E-4 16626 0 9.23626E-4
16-8816704-G-A c.13+5G>A splice_region ABAT 1 33248 3.0077E-5 16624 0 NA
16-8816707-C-A c.13+8C>A splice_region ABAT 1 33250 3.00752E-5 16625 0 3.90424E-5
16-8829549-C-A c.-41-7C>A splice_region ABAT 1 81436 1.22796E-5 40718 0 3.18695E-5
16-8829553-C-T c.-41-3C>T splice_region ABAT 2 81522 2.45333E-5 40761 0 3.18532E-5
16-8829561-C-A p.Gln7Lys missense ABAT 3 81678 3.67296E-5 40839 0 NA
16-8829566-C-T c.-31C>T 5_prime_UTR_premature_start_codon_gain ABAT 1 81750 1.22324E-5 40875 0 1.91192E-4
16-8829567-G-A p.Ala9Thr missense ABAT 2 81752 2.44642E-5 40876 0 3.80604E-5
16-8829571-AG-A p.Gly11fs frameshift ABAT 1 81854 1.22169E-5 40927 0 NA
16-8829573-G-T p.Gly11Cys missense ABAT 2 81880 2.4426E-5 40940 0 NA
16-8829581-T-C p.Pro13Pro synonymous ABAT 1 81978 1.21984E-5 40989 0 1.37977E-5
16-8829582-G-A p.Val14Ile missense ABAT 2 81986 2.43944E-5 40993 0 NA
16-8829585-C-T p.Pro15Ser missense ABAT 2 82036 2.43795E-5 41018 0 4.49269E-6
16-8829586-C-T p.Pro15Leu missense ABAT 1 82050 1.21877E-5 41025 0 NA
16-8829586-C-G p.Pro15Arg missense ABAT 2 82050 2.43754E-5 41025 0 NA
16-8829614-C-T p.Leu6Leu synonymous ABAT 2 82106 2.43588E-5 41053 0 8.25927E-5
16-8829615-G-A p.Ala7Thr missense ABAT 3 82102 3.65399E-5 41051 0 6.51699E-5
16-8829621-C-T p.Arg9Cys missense ABAT 10 82126 1.21764E-4 41063 0 1.88011E-4
16-8829622-G-A p.Arg9His missense ABAT 20 82120 2.43546E-4 41060 0 0.0030303
16-8829626-G-A p.Leu10Leu synonymous ABAT 249 82132 0.00303171 41066 0 0.00300437
16-8829629-C-T p.Ala11Ala synonymous ABAT 2 82148 2.43463E-5 41074 0 NA
16-8829640-A-T p.Gln15Leu missense ABAT 2 82140 2.43487E-5 41070 0 3.04025E-5
16-8829641-G-C p.Gln15His missense ABAT 10 82124 1.21767E-4 41062 0 9.56084E-5
16-8829642-C-T p.His16Tyr missense ABAT 2 82122 2.4354E-5 41061 0 1.53304E-5
16-8829651-C-T p.Arg19Cys missense ABAT 117 82046 0.00142603 41023 0 0.00286825
16-8829654-C-G p.Leu20Val missense ABAT 1 82032 1.21904E-5 41016 0 1.63239E-5
16-8829656-G-A p.Leu20Leu synonymous ABAT 6 81994 7.31761E-5 40997 0 1.14581E-4
16-8829662-G-A p.Val22Val synonymous ABAT 4 81968 4.87995E-5 40984 0 4.37809E-6
16-8829667-G-GATCCAGACACAT c.70+1_70+2insATCCAGACACAT splice_donor ABAT 1 81924 1.22064E-5 40962 0 NA
16-8829667-G-GATCCAGACACATTAGTCAAGCTGCAGCCAAAGTCGACGTTGAA c.70+1_70+2insATCCAGACACATTAGTCAAGCTGCAGCCAAAGTCGACGTTGAA splice_donor ABAT 2 81924 2.44129E-5 40962 1 NA
16-8829667-G-GATCCAGACACATTAGTCAAGCTGCAGCCAAAGTCGACGTTGAAT c.70+1_70+2insATCCAGACACATTAGTCAAGCTGCAGCCAAAGTCGACGTTGAAT splice_donor ABAT 2 81924 2.44129E-5 40962 1 NA
16-8839854-G-A c.71-4G>A splice_region ABAT 1 83006 1.20473E-5 41503 0 6.37024E-5
16-8839869-A-G p.Ile28Val missense ABAT 3 83080 3.61098E-5 41540 0 NA
16-8839879-C-A p.Ala31Asp missense ABAT 1 83146 1.2027E-5 41573 0 NA
16-8839881-G-C p.Ala32Pro missense ABAT 1 83164 1.20244E-5 41582 0 NA
16-8839889-A-T p.Lys34Asn missense ABAT 1 83190 1.20207E-5 41595 0 NA
16-8839891-T-C p.Val35Ala missense ABAT 1 83190 1.20207E-5 41595 0 3.97795E-6
16-8839893-G-A p.Asp36Asn missense ABAT 1 83188 1.2021E-5 41594 0 1.64842E-5
16-8839895-C-A p.Asp36Glu missense ABAT 1 83200 1.20192E-5 41600 0 1.64832E-5
16-8839896-G-A p.Val37Ile missense ABAT 13 83186 1.56276E-4 41593 0 6.25E-4
16-8839901-A-T p.Glu38Asp missense ABAT 2 83212 2.4035E-5 41606 0 NA
16-8839916-G-A p.Gly43Gly synonymous ABAT 1048 83164 0.0126016 41582 56 0.0297866
16-8839930-C-T p.Thr48Met missense ABAT 1 83164 1.20244E-5 41582 0 1.19348E-5
16-8839931-G-T p.Thr48Thr synonymous ABAT 1 83172 1.20233E-5 41586 0 3.97826E-6
16-8839943-G-A p.Gly52Gly synonymous ABAT 1 83138 1.20282E-5 41569 0 3.18532E-5
16-8839945-C-T p.Pro53Leu missense ABAT 2 83138 2.40564E-5 41569 0 7.9571E-6
16-8839954-A-G p.Gln56Arg missense+splice_region ABAT 45581 81952 0.556191 40976 13004 0.591178
16-8839956-G-GAGTTAATGAAACAGCTGAATATAATTCAGAATGCAGAGGCTGTGCATTTTTTCTGCAA c.168+1_168+2insAGTTAATGAAACAGCTGAATATAATTCAGAATGCAGAGGCTGTGCATTTTTTCTGCAA splice_donor ABAT 2 83072 2.40755E-5 41536 1 NA
16-8839960-G-T c.168+5G>T splice_region ABAT 1 83012 1.20465E-5 41506 0 3.18492E-5
16-8841959-C-T c.169-6C>T splice_region ABAT 2 83052 2.40813E-5 41526 0 8.23832E-6
16-8841960-T-C c.169-5T>C splice_region ABAT 44741 82572 0.541842 41286 12735 0.580489
16-8841960-T-A c.169-5T>A splice_region ABAT 1 83044 1.20418E-5 41522 0 NA
16-8841986-A-G p.Ile64Val missense ABAT 3 83080 3.61098E-5 41540 0 3.18512E-5
16-8844278-G-A c.199-1G>A splice_acceptor ABAT 1 83268 1.20094E-5 41634 0 NA
16-8844288-G-T p.Ala70Ser missense ABAT 2 83278 2.40159E-5 41639 0 8.2375E-6
16-8844291-G-T p.Val71Leu missense ABAT 2 83298 2.40102E-5 41649 0 3.97747E-6
16-8844294-C-A p.His72Asn missense ABAT 1 83294 1.20057E-5 41647 0 8.23737E-6
16-8844312-G-A p.Glu78Lys missense ABAT 2 83316 2.4005E-5 41658 0 8.23669E-6
16-8844322-G-A p.Arg81Gln missense ABAT 1 83312 1.20031E-5 41656 0 7.95418E-6
16-8844347-C-T p.Asp89Asp synonymous ABAT 67 83302 8.04302E-4 41651 0 9.50502E-4
16-8844365-T-C p.Asp95Asp synonymous ABAT 4 83294 4.80227E-5 41647 0 NA
16-8844389-C-T p.Val103Val synonymous ABAT 8676 83070 0.104442 41535 524 0.120964
16-8844393-A-G p.Ile105Val missense ABAT 2 83260 2.40211E-5 41630 0 3.18451E-5
16-8844394-T-C p.Ile105Thr missense+splice_region ABAT 6 83258 7.20651E-5 41629 0 NA
16-8844398-T-TTACAGCCACCCCGCCCTGCTGAAACTCATCC c.316+2_316+3insTACAGCCACCCCGCCCTGCTGAAACTCATCC splice_region ABAT 3 83228 3.60456E-5 41614 1 NA
16-8844398-T-TTACAGCCACCCCGCCCTGCTG c.316+2_316+3insTACAGCCACCCCGCCCTGCTG splice_region ABAT 4 83228 4.80607E-5 41614 2 NA
16-8844399-A-G c.316+3A>G splice_region ABAT 2 83216 2.40338E-5 41608 0 3.57938E-5
16-8844404-C-G c.316+8C>G splice_region ABAT 2 83198 2.4039E-5 41599 0 3.97706E-6
16-8851086-G-A p.Ala117Ala synonymous ABAT 2 7102 2.81611E-4 3551 0 1.1685E-4
16-8851606-G-C c.317-8G>C splice_region ABAT 2 83380 2.39866E-5 41690 0 3.18634E-5
16-8851606-G-A c.317-8G>A splice_region ABAT 1 83380 1.19933E-5 41690 0 3.97671E-6
16-8851609-C-T c.317-5C>T splice_region ABAT 2 83380 2.39866E-5 41690 0 7.95311E-6
16-8851620-G-A p.Ser108Asn missense ABAT 1 83402 1.19901E-5 41701 0 NA
16-8851627-C-T p.Pro110Pro synonymous ABAT 8 83398 9.59256E-5 41699 0 7.41473E-5
16-8851628-G-A p.Ala111Thr missense ABAT 4 83398 4.79628E-5 41699 0 5.7672E-5
16-8851655-C-CA p.Asn121fs frameshift ABAT 1 83398 1.19907E-5 41699 0 NA
16-8851662-C-T p.Ala122Val missense+splice_region ABAT 3 83402 3.59704E-5 41701 0 1.64875E-5
16-8851663-G-GAGCAT c.366_366+1insAGCAT splice_donor ABAT 4 83398 4.79628E-5 41699 0 NA
16-8851663-G-A p.Ala122Ala splice_region+synonymous ABAT 2 83400 2.39808E-5 41700 0 3.9769E-6
16-8853987-T-C n.297T>C splice_region ABAT 1 2 0.5 1 0 0.769142
16-8857923-C-T c.367-3C>T splice_region ABAT 2 83238 2.40275E-5 41619 0 3.18654E-5
16-8857937-C-T p.Val126Val synonymous ABAT 1 83324 1.20013E-5 41662 0 3.97735E-6
16-8857940-C-T p.Asn127Asn synonymous ABAT 2 83326 2.40021E-5 41663 0 4.11889E-5
16-8857952-C-T p.Leu131Leu synonymous ABAT 12 83326 1.44013E-4 41663 0 1.9129E-4
16-8857964-T-G p.Pro135Pro synonymous ABAT 1 83322 1.20016E-5 41661 0 3.97817E-6
16-8857967-G-A p.Pro136Pro synonymous ABAT 12 83326 1.44013E-4 41663 0 6.37592E-5
16-8857978-T-C p.Val140Ala missense ABAT 3 83304 3.60127E-5 41652 0 7.95735E-6
16-8857981-A-G p.Glu141Gly missense ABAT 1 83296 1.20054E-5 41648 0 NA
16-8857989-C-T p.Arg144Trp missense ABAT 1 83290 1.20062E-5 41645 0 3.98019E-6
16-8857990-G-A p.Arg144Gln missense ABAT 4 83296 4.80215E-5 41648 0 5.97096E-5
16-8858005-C-T p.Ser149Leu missense+splice_region ABAT 4 83252 4.80469E-5 41626 0 3.18674E-5
16-8858006-G-T p.Ser149Ser splice_region+synonymous ABAT 2 83250 2.4024E-5 41625 0 0.00125
16-8858006-G-A p.Ser149Ser splice_region+synonymous ABAT 1 83250 1.2012E-5 41625 0 1.59415E-5
16-8858009-G-GGCTCCCAA c.447+3_447+4insGCTCCCAA splice_region ABAT 1 83228 1.20152E-5 41614 0 NA
16-8858599-C-T p.Ala151Val missense ABAT 1 83252 1.20117E-5 41626 0 3.97725E-6
16-8858625-A-T p.Thr160Ser missense ABAT 1 83328 1.20008E-5 41664 0 NA
16-8858629-T-G p.Met161Arg missense ABAT 1 83330 1.20005E-5 41665 0 NA
16-8858636-C-T p.Cys163Cys synonymous ABAT 4 83334 4.79996E-5 41667 0 2.30653E-4
16-8858644-G-C p.Cys166Ser missense ABAT 1 83338 1.19993E-5 41669 0 8.23737E-6
16-8858657-C-T p.Asn170Asn synonymous ABAT 2 83340 2.39981E-5 41670 0 5.05051E-4
16-8858658-G-C p.Ala171Pro missense ABAT 1 83334 1.19999E-5 41667 0 NA
16-8858666-G-A p.Lys173Lys synonymous ABAT 2 83324 2.40027E-5 41662 0 3.18817E-5
16-8858676-A-C p.Met177Leu missense ABAT 1 83280 1.20077E-5 41640 0 1.64772E-5
16-8858687-G-GAGCAAGGAAAGAGGGCAGAGGGGCTTCTCCCAGGAGGAGCTGGAGACGTGCAT c.540_540+1insAGCAAGGAAAGAGGGCAGAGGGGCTTCTCCCAGGAGGAGCTGGAGACGTGCAT splice_donor ABAT 1 83220 1.20163E-5 41610 0 NA
16-8858687-G-GA c.540_540+1insA splice_donor ABAT 2 83220 2.40327E-5 41610 1 NA
16-8858695-T-C c.540+8T>C splice_region ABAT 2 83128 2.40593E-5 41564 0 8.25001E-6
16-8860057-T-C c.541-8T>C splice_region ABAT 1 82994 1.20491E-5 41497 0 3.1841E-5
16-8860066-G-A p.Ser181Asn missense+splice_region ABAT 1 83054 1.20404E-5 41527 0 NA
16-8860070-G-T p.Lys182Asn missense ABAT 1 83084 1.2036E-5 41542 0 NA
16-8860079-G-A p.Gly185Gly synonymous ABAT 3 83092 3.61046E-5 41546 0 1.66094E-5
16-8860085-G-C p.Arg187Ser missense ABAT 7 83086 8.42501E-5 41543 0 5.81811E-5
16-8860086-G-A p.Gly188Ser missense ABAT 1 83074 1.20375E-5 41537 0 NA
16-8860130-G-A c.603+3G>A splice_region ABAT 910 82592 0.011018 41296 6 0.00877193
16-8862044-T-A c.604-6T>A splice_region ABAT 2 83274 2.40171E-5 41637 0 6.25E-4
16-8862049-G-A c.604-1G>A splice_acceptor ABAT 1 83298 1.20051E-5 41649 0 NA
16-8862051-C-A p.Ala202Asp missense+splice_region ABAT 1 83296 1.20054E-5 41648 0 NA
16-8862052-C-T p.Ala202Ala splice_region+synonymous ABAT 2 83294 2.40113E-5 41647 0 NA
16-8862064-C-T p.Pro206Pro synonymous ABAT 2 83320 2.40038E-5 41660 0 8.748E-5
16-8862065-G-A p.Asp207Asn missense ABAT 1 83324 1.20013E-5 41662 0 4.11916E-5
16-8862067-C-T p.Asp207Asp synonymous ABAT 1 83330 1.20005E-5 41665 0 NA
16-8862071-A-G p.Ser209Gly missense ABAT 1 83326 1.20011E-5 41663 0 NA
16-8862072-G-A p.Ser209Asn missense ABAT 1 83326 1.20011E-5 41663 0 NA
16-8862087-T-C p.Met214Thr missense ABAT 220 83326 0.00264023 41663 2 0.0034709
16-8862089-G-A p.Gly215Ser missense ABAT 1 83324 1.20013E-5 41662 0 5.76663E-5
16-8862091-C-A p.Gly215Gly synonymous ABAT 19 83324 2.28026E-4 41662 0 0.00125
16-8862091-C-T p.Gly215Gly synonymous ABAT 2 83324 2.40027E-5 41662 0 0.00100705
16-8862092-G-A p.Ala216Thr missense ABAT 2 83322 2.40033E-5 41661 0 3.9763E-6
16-8862094-G-A p.Ala216Ala synonymous ABAT 2 83318 2.40044E-5 41659 0 3.29522E-5
16-8862118-G-GGA c.667+5_667+6insGA splice_region ABAT 3 83276 3.60248E-5 41638 0 5.16948E-5
16-8862679-C-T c.668-3C>T splice_region ABAT 9 83322 1.08015E-4 41661 0 6.3674E-5
16-8862691-C-T p.Ala226Val missense ABAT 2 83358 2.39929E-5 41679 0 3.29658E-5
16-8862694-C-G p.Thr227Ser missense ABAT 1 83352 1.19973E-5 41676 0 3.18451E-5
16-8862697-C-G p.Thr228Arg missense ABAT 1 83366 1.19953E-5 41683 0 NA
16-8862698-G-A p.Thr228Thr synonymous ABAT 87 83362 0.00104364 41681 3 0.00306521
16-8862712-T-C p.Ile233Thr missense ABAT 1 83380 1.19933E-5 41690 0 NA
16-8862722-C-T p.Ile236Ile synonymous ABAT 2 83380 2.39866E-5 41690 0 6.59055E-5
16-8862728-C-T p.Ile238Ile synonymous ABAT 1 83392 1.19916E-5 41696 0 3.9763E-6
16-8862747-A-G p.Ile245Val missense ABAT 2 83396 2.3982E-5 41698 0 1.64742E-5
16-8862749-C-T p.Ile245Ile synonymous ABAT 8 83394 9.59302E-5 41697 0 9.55353E-5
16-8862750-G-A p.Ala246Thr missense ABAT 3 83398 3.59721E-5 41699 0 3.18451E-5
16-8862755-G-A p.Pro247Pro synonymous ABAT 10 83398 1.19907E-4 41699 0 2.54761E-4
16-8862762-C-T p.Arg250Trp missense ABAT 12 83386 1.43909E-4 41693 0 2.2268E-4
16-8862763-G-T p.Arg250Leu missense ABAT 6 83386 7.19545E-5 41693 0 8.23737E-6
16-8862763-G-A p.Arg250Gln missense ABAT 2 83386 2.39848E-5 41693 0 1.07086E-4
16-8862773-C-A p.Tyr253* stop_gained ABAT 1 83390 1.19918E-5 41695 0 NA
16-8862785-G-C p.Glu257Asp missense ABAT 4 83390 4.79674E-5 41695 0 3.1841E-5
16-8862795-G-A p.Glu261Lys missense ABAT 1 83386 1.19924E-5 41693 0 NA
16-8862815-C-T p.Ala267Ala synonymous ABAT 2 83348 2.39958E-5 41674 0 1.64794E-5
16-8862837-C-A c.816+7C>A splice_region ABAT 112 83296 0.0013446 41648 1 0.00318613
16-8866631-A-G c.817-6A>G splice_region ABAT 103 83290 0.00123664 41645 1 0.00286843
16-8866632-T-A c.817-5T>A splice_region ABAT 6 83300 7.20288E-5 41650 0 1.19322E-5
16-8866650-T-C p.Ile277Thr missense ABAT 1 83336 1.19996E-5 41668 0 4.94234E-5
16-8866651-T-C p.Ile277Ile synonymous ABAT 1 83340 1.1999E-5 41670 0 NA
16-8866662-G-A p.Arg281Gln missense ABAT 3 83332 3.60006E-5 41666 0 3.29511E-5
16-8866666-AAAG-A p.Lys285del disruptive_inframe_deletion ABAT 1 83350 1.19976E-5 41675 0 8.2375E-6
16-8866678-G-A p.Thr286Thr synonymous ABAT 6 83354 7.19821E-5 41677 0 1.59266E-4
16-8866684-C-T p.Ala288Ala synonymous ABAT 8 83354 9.59762E-5 41677 0 1.5652E-4
16-8866694-G-A p.Val292Met missense ABAT 1 83356 1.19967E-5 41678 0 3.18532E-5
16-8866696-G-T p.Val292Val synonymous ABAT 1 83364 1.19956E-5 41682 0 NA
16-8866700-C-G p.Pro294Ala missense ABAT 2 83362 2.39917E-5 41681 0 NA
16-8866705-C-G p.Ile295Met missense ABAT 1 83356 1.19967E-5 41678 0 NA
16-8866711-C-G p.Ser297Ser synonymous ABAT 2 83350 2.39952E-5 41675 0 6.37267E-5
16-8866711-C-T p.Ser297Ser synonymous ABAT 2 83350 2.39952E-5 41675 0 5.96493E-5
16-8866719-G-C p.Gly300Ala missense ABAT 1 83344 1.19985E-5 41672 0 NA
16-8866735-C-T p.Ser305Ser synonymous ABAT 1 83348 1.19979E-5 41674 0 NA
16-8866736-G-A p.Asp306Asn missense ABAT 1 83352 1.19973E-5 41676 0 8.23764E-5
16-8866749-G-A p.Arg310Gln missense ABAT 5 83324 6.00067E-5 41662 0 3.18532E-5
16-8866765-C-T p.Ile315Ile synonymous ABAT 1 83250 1.2012E-5 41625 0 5.76768E-5
16-8866765-C-A p.Ile315Ile synonymous ABAT 2 83250 2.4024E-5 41625 0 1.19306E-5
16-8866766-G-T p.Ala316Ser missense ABAT 1 83232 1.20146E-5 41616 0 3.18695E-5
16-8866767-C-T p.Ala316Val missense ABAT 2 83230 2.40298E-5 41615 0 2.4719E-5
16-8868739-C-A c.955-8C>A splice_region ABAT 3 82884 3.61952E-5 41442 0 NA
16-8868740-C-T c.955-7C>T splice_region ABAT 1 82930 1.20584E-5 41465 0 8.4134E-5
16-8868749-T-G p.His319Gln missense+splice_region ABAT 1 83108 1.20325E-5 41554 0 3.9808E-6
16-8868753-T-C p.Cys321Arg missense ABAT 1 83158 1.20253E-5 41579 0 NA
16-8868755-C-T p.Cys321Cys synonymous ABAT 1 83164 1.20244E-5 41582 0 1.27437E-4
16-8868756-G-A p.Ala322Thr missense ABAT 2 83178 2.40448E-5 41589 0 NA
16-8868758-C-A p.Ala322Ala synonymous ABAT 1 83210 1.20178E-5 41605 0 NA
16-8868770-C-T p.Asp326Asp synonymous ABAT 1 83212 1.20175E-5 41606 0 5.03525E-4
16-8868776-C-A p.Val328Val synonymous ABAT 29839 82388 0.362177 41194 5659 0.388342
16-8868782-C-T p.Thr330Thr synonymous ABAT 4 83258 4.80434E-5 41629 0 4.37473E-5
16-8868782-C-A p.Thr330Thr synonymous ABAT 2 83258 2.40217E-5 41629 0 NA
16-8868794-C-T p.Cys334Cys synonymous ABAT 1 83274 1.20085E-5 41637 0 8.24008E-6
16-8868797-G-A p.Thr335Thr synonymous ABAT 2 83286 2.40136E-5 41643 0 3.29592E-5
16-8868845-C-T p.Asp351Asp synonymous ABAT 1 83344 1.19985E-5 41672 0 4.9425E-5
16-8868846-G-A p.Val352Met missense ABAT 5 83340 5.99952E-5 41670 0 6.36862E-5
16-8868860-C-T p.Ser356Ser synonymous ABAT 1 83354 1.1997E-5 41677 0 NA
16-8868874-C-G p.Thr361Ser missense ABAT 1 83360 1.19962E-5 41680 0 5.16931E-5
16-8868875-T-TG p.Phe364fs frameshift ABAT 1 83362 1.19959E-5 41681 0 NA
16-8868902-C-G p.Phe370Leu missense ABAT 1 83356 1.19967E-5 41678 0 3.18573E-5
16-8868905-G-A p.Arg371Arg synonymous ABAT 4 83348 4.79916E-5 41674 0 3.97662E-6
16-8868911-T-C p.Asn373Asn synonymous ABAT 1 83330 1.20005E-5 41665 0 NA
16-8870200-G-A c.1123-1G>A splice_acceptor ABAT 1 83332 1.20002E-5 41666 0 NA
16-8870203-C-G p.Pro375Pro splice_region+synonymous ABAT 3 83356 3.59902E-5 41678 0 6.37105E-5
16-8870212-C-T p.Ile378Ile synonymous ABAT 1 83366 1.19953E-5 41683 0 NA
16-8870217-A-G p.Asn380Ser missense ABAT 1 83362 1.19959E-5 41681 0 NA
16-8870225-C-T p.Leu383Leu synonymous ABAT 991 83344 0.0118905 41672 39 0.0270382
16-8870230-G-T p.Gly384Gly synonymous ABAT 2 83354 2.3994E-5 41677 0 0.00100705
16-8870235-C-T p.Pro386Leu missense ABAT 10 83344 1.19985E-4 41672 0 3.57916E-5
16-8870236-G-A p.Pro386Pro synonymous ABAT 1 83350 1.19976E-5 41675 0 6.37064E-5
16-8870236-G-T p.Pro386Pro synonymous ABAT 1 83350 1.19976E-5 41675 0 NA
16-8870246-C-G p.Leu390Val missense ABAT 1 83358 1.19964E-5 41679 0 NA
16-8870260-G-A p.Glu394Glu synonymous ABAT 1 83350 1.19976E-5 41675 0 NA
16-8870264-A-G p.Ile396Val missense ABAT 40 83342 4.7995E-4 41671 0 0.00133835
16-8870278-G-C p.Lys400Asn missense ABAT 1 83314 1.20028E-5 41657 0 NA
16-8870280-G-A p.Arg401Gln missense ABAT 5 83288 6.00327E-5 41644 0 0.00100705
16-8870285-G-A p.Asp403Asn missense ABAT 1 83262 1.20103E-5 41631 0 NA
16-8870299-T-A p.Asn407Lys missense ABAT 1 83112 1.2032E-5 41556 0 NA
16-8870302-A-C p.Ala408Ala synonymous ABAT 1 83046 1.20415E-5 41523 0 NA
16-8870311-C-A p.Ala411Ala synonymous ABAT 2 82704 2.41826E-5 41352 0 1.27462E-4
16-8870311-C-G p.Ala411Ala synonymous ABAT 4 82704 4.83653E-5 41352 0 2.19263E-4
16-8870311-C-T p.Ala411Ala synonymous ABAT 1 82704 1.20913E-5 41352 0 1.9933E-5
16-8870312-G-A p.Gly412Arg missense ABAT 1 82694 1.20928E-5 41347 0 NA
16-8870319-C-T p.Ala414Val missense ABAT 2 82504 2.42412E-5 41252 0 3.37878E-5
16-8870326-C-T p.Leu416Leu synonymous ABAT 1 82296 1.21513E-5 41148 0 8.57148E-6
16-8870328-C-G p.Thr417Arg missense ABAT 1 82238 1.21598E-5 41119 0 8.59845E-6
16-8870332-A-G p.Gly418Gly synonymous ABAT 1 82058 1.21865E-5 41029 0 NA
16-8870332-A-T p.Gly418Gly synonymous ABAT 6 82058 7.3119E-5 41029 0 2.00565E-5
16-8870335-G-A p.Leu419Leu synonymous ABAT 1 81800 1.22249E-5 40900 0 1.20681E-5
16-8870351-A-C c.1269+4A>C splice_region ABAT 656 80486 0.00815049 40243 4 0.00880431
16-8870353-A-G c.1269+6A>G splice_region ABAT 4 79764 5.01479E-5 39882 0 6.57419E-5
16-8870353-A-AC c.1269+6_1269+7insC splice_region ABAT 1 79764 1.2537E-5 39882 0 NA
16-8870354-C-T c.1269+7C>T splice_region ABAT 14 80432 1.7406E-4 40216 0 1.27992E-4
16-8870354-C-A c.1269+7C>A splice_region ABAT 1 80432 1.24329E-5 40216 0 1.07968E-5
16-8873328-C-T c.1270-8C>T splice_region ABAT 1 83216 1.20169E-5 41608 0 3.98007E-6
16-8873331-T-TTATACAGTGAGAGGG c.1270-5_1270-4insTATACAGTGAGAGGG splice_region ABAT 1 83234 1.20143E-5 41617 0 NA
16-8873332-A-G c.1270-4A>G splice_region ABAT 5599 83128 0.067354 41564 206 0.0675736
16-8873339-C-T p.Arg425Trp missense ABAT 1 83278 1.2008E-5 41639 0 8.28816E-6
16-8873340-G-A p.Arg425Gln missense ABAT 1 83292 1.2006E-5 41646 0 7.45527E-5
16-8873348-C-G p.Gln428Glu missense ABAT 1 83316 1.20025E-5 41658 0 7.43826E-5
16-8873353-C-A p.Phe429Leu missense ABAT 1 83328 1.20008E-5 41664 0 8.25846E-6
16-8873365-G-A p.Val433Val synonymous ABAT 1 83362 1.19959E-5 41681 0 3.57918E-5
16-8873373-G-A p.Arg436Gln missense ABAT 1 83368 1.1995E-5 41684 0 5.77224E-5
16-8873387-TC-T p.Phe442fs frameshift ABAT 1 83382 1.1993E-5 41691 0 NA
16-8873392-C-T p.Phe442Phe synonymous ABAT 17 83386 2.03871E-4 41693 0 1.27405E-4
16-8873392-C-A p.Phe442Leu missense ABAT 1 83386 1.19924E-5 41693 0 3.18512E-5
16-8873393-G-A p.Asp443Asn missense ABAT 2 83388 2.39843E-5 41694 0 2.38608E-5
16-8873399-C-G p.Pro445Ala missense ABAT 1 83386 1.19924E-5 41693 0 NA
16-8873402-G-A p.Asp446Asn missense ABAT 4 83388 4.79685E-5 41694 0 2.47386E-5
16-8873411-A-G p.Ile449Val missense ABAT 2 83378 2.39871E-5 41689 0 3.18471E-5
16-8873412-T-C p.Ile449Thr missense ABAT 1 83376 1.19939E-5 41688 0 3.97681E-6
16-8873414-C-T p.Arg450Trp missense ABAT 1 83382 1.1993E-5 41691 0 3.3E-5
16-8873415-G-A p.Arg450Gln missense ABAT 1 83374 1.19941E-5 41687 0 3.57958E-5
16-8873419-T-A p.Asn451Lys missense ABAT 3 83372 3.59833E-5 41686 0 2.47611E-5
16-8873423-C-A p.Leu453Ile missense ABAT 1 83374 1.19941E-5 41687 0 NA
16-8873434-T-C p.Ile456Ile synonymous ABAT 2 83354 2.3994E-5 41677 0 NA
16-8873440-A-G p.Arg458Arg synonymous ABAT 1 83338 1.19993E-5 41669 0 3.98108E-6
16-8873452-G-C c.1381+5G>C splice_region ABAT 3 83242 3.60395E-5 41621 0 6.25E-4
16-8873453-G-A c.1381+6G>A splice_region ABAT 3 83220 3.6049E-5 41610 0 3.18593E-5
16-8873454-G-A c.1381+7G>A splice_region ABAT 1 83214 1.20172E-5 41607 0 NA
16-8875098-T-TC c.1382-9_1382-8insC splice_region ABAT 1 81074 1.23344E-5 40537 0 NA
16-8875103-C-T c.1382-4C>T splice_region ABAT 1 81140 1.23244E-5 40570 0 6.37308E-5
16-8875107-C-T p.Ala461Val missense+splice_region ABAT 1 81230 1.23107E-5 40615 0 2.80235E-5
16-8875127-G-A p.Glu468Lys missense ABAT 4 81804 4.88974E-5 40902 0 7.97804E-6
16-8875129-G-C p.Glu468Asp missense ABAT 1 81868 1.22148E-5 40934 0 NA
16-8875134-C-T p.Pro470Leu missense ABAT 1 81934 1.22049E-5 40967 0 3.18552E-5
16-8875136-C-T p.Arg471Cys missense ABAT 1 81960 1.22011E-5 40980 0 7.41302E-5
16-8875137-G-T p.Arg471Leu missense ABAT 1 82014 1.2193E-5 41007 0 NA
16-8875139-T-C p.Ser472Pro missense ABAT 8 82084 9.74611E-5 41042 0 8.3644E-5
16-8875140-C-T p.Ser472Phe missense ABAT 3 82118 3.65328E-5 41059 0 NA
16-8875171-G-A p.Trp482* stop_gained ABAT 2 82622 2.42066E-5 41311 0 6.25E-4
16-8875171-G-C p.Val463Leu missense ABAT 1 82622 1.21033E-5 41311 0 NA
16-8875176-G-A p.Trp484* stop_gained ABAT 1 82690 1.20934E-5 41345 0 6.37349E-5
16-8875193-A-C p.Lys470Thr missense ABAT 1 82972 1.20523E-5 41486 0 NA
16-8875208-G-C p.Arg475Pro missense ABAT 1 83186 1.20213E-5 41593 0 NA
16-8875214-C-T p.Thr477Met missense ABAT 3 83292 3.60179E-5 41646 0 1.27453E-4
16-8875215-G-A p.Arg497His missense ABAT 8 83302 9.60361E-5 41651 0 2.06774E-4
16-8875216-C-A p.Leu478Met missense ABAT 1 83314 1.20028E-5 41657 0 NA
16-8875236-C-T p.Thr504Met missense ABAT 615 83370 0.00737675 41685 12 0.0139234
16-8875238-C-T p.Ala485Val missense ABAT 1 83372 1.19944E-5 41686 0 NA
16-8875241-A-T p.His486Leu missense ABAT 2 83378 2.39871E-5 41689 0 1.19291E-5
16-8875245-G-C p.Cys507Ser missense ABAT 2 83384 2.39854E-5 41692 0 3.18593E-5
16-8875253-A-G p.Asn490Ser missense ABAT 1 83406 1.19895E-5 41703 0 NA
16-8875272-A-G p.Ter516Trpext*? stop_lost ABAT 2 83402 2.39802E-5 41701 0 9.06036E-5
16-8875275-A-G p.Ala497Ala synonymous ABAT 1 83392 1.19916E-5 41696 0 6.36983E-5
16-8875276-G-A p.Asp498Asn missense ABAT 1 83388 1.19921E-5 41694 0 NA
16-8875283-A-T p.Lys500Met missense ABAT 1 83384 1.19927E-5 41692 0 NA
16-8875287-A-G p.Ter501Ter stop_retained ABAT 1 83376 1.19939E-5 41688 0 NA
16-8875386-G-C c.*1342G>C splice_region ABAT 509 80940 0.00628861 40470 2 0.0121477
16-8875434-CTT-TTG c.*147_*149delCTTinsTTG splice_region ABAT 1 72632 1.3768E-5 36316 0 NA
16-8875436-T-G c.*149T>G splice_region ABAT 4 69270 5.77451E-5 34635 0 NA
16-8875445-G-A c.*158G>A splice_region ABAT 1 70590 1.41663E-5 35295 0 NA
16-8875447-A-G c.*160A>G splice_region ABAT 22 61696 3.56587E-4 30848 0 0.0149051
16-8875447-A-T c.*160A>T splice_region ABAT 16 61788 2.5895E-4 30894 0 NA