Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
15-68484397-C-T c.*1956G>A splice_region CALML4 19 3108 0.00611326 1554 0 0.00576543
15-68486353-T-C p.Ter150Trpext*? stop_lost CALML4 41 83302 4.92185E-4 41651 1 0.00121027
15-68486356-A-G p.Tyr149Tyr synonymous CALML4 1 83308 1.20036E-5 41654 0 0.00125
15-68486360-TC-T p.Asp148fs frameshift CALML4 86 83314 0.00103224 41657 0 8.90947E-4
15-68486364-G-A p.Arg147Trp missense CALML4 4 83322 4.80065E-5 41661 0 0.00100705
15-68486381-T-C p.Lys141Arg missense CALML4 1 83336 1.19996E-5 41668 0 8.24226E-6
15-68486421-C-T p.Glu128Lys missense CALML4 4 83314 4.80111E-5 41657 0 6.36943E-5
15-68486423-A-G p.Ser54Pro missense CALML4 1 83324 1.20013E-5 41662 0 3.97681E-6
15-68486424-T-G p.Ile127Leu missense CALML4 1 83320 1.20019E-5 41660 0 8.24348E-6
15-68486426-T-C p.Ile53Val missense CALML4 3 83318 3.60066E-5 41659 0 3.1841E-5
15-68486429-G-A p.Gln52* stop_gained CALML4 2 83316 2.4005E-5 41658 0 NA
15-68486454-CAATA-C c.*280-8_*280-5delTATT splice_region CALML4 1 83264 1.201E-5 41632 0 2.48443E-5
15-68489776-A-AC c.*279+1_*279+2insG splice_donor CALML4 2 83336 2.39992E-5 41668 0 NA
15-68489781-C-G p.Glu88Gln missense CALML4 1 83348 1.19979E-5 41674 0 NA
15-68489794-C-G p.Lys83Asn missense CALML4 1 83366 1.19953E-5 41683 0 8.33056E-6
15-68489794-C-T p.Lys83Lys synonymous CALML4 1 83366 1.19953E-5 41683 0 3.18532E-5
15-68489803-C-T p.Leu80Leu synonymous CALML4 1 83380 1.19933E-5 41690 0 NA
15-68489808-T-A p.Ser79Cys missense CALML4 15 83376 1.79908E-4 41688 0 4.14118E-4
15-68489810-G-T p.Thr78Lys missense CALML4 577 83372 0.00692079 41686 2 0.00780537
15-68489810-G-A p.Thr78Met missense CALML4 1 83376 1.19939E-5 41688 0 8.01513E-6
15-68489822-C-T p.Arg74Gln missense CALML4 1 83386 1.19924E-5 41693 0 2.48628E-5
15-68489823-G-T p.Arg74Arg synonymous CALML4 1 83388 1.19921E-5 41694 0 3.18552E-5
15-68489823-G-A p.Arg74Trp missense CALML4 1 83388 1.19921E-5 41694 0 0.006875
15-68489830-G-A p.Ser71Ser synonymous CALML4 2 83386 2.39848E-5 41693 0 5.03525E-4
15-68489833-C-T p.Ala70Ala synonymous CALML4 4 83386 4.79697E-5 41693 0 6.37105E-5
15-68489834-G-A p.Ala70Val missense CALML4 3 83394 3.59738E-5 41697 0 3.18471E-5
15-68489841-C-T p.Val68Ile missense CALML4 6 83388 7.19528E-5 41694 0 0.00375
15-68489846-C-T p.Gly66Asp missense CALML4 5 83402 5.99506E-5 41701 0 1.96328E-4
15-68489853-TCTC-T p.Glu63del conservative_inframe_deletion CALML4 5 83408 5.99463E-5 41704 0 1.07648E-4
15-68489856-C-T p.Glu63Lys missense CALML4 2 83402 2.39802E-5 41701 0 NA
15-68489860-G-A p.Asp61Asp synonymous CALML4 1 83400 1.19904E-5 41700 0 3.18451E-5
15-68489863-C-T p.Val60Val synonymous CALML4 1 83402 1.19901E-5 41701 0 NA
15-68489871-A-G p.Leu58Leu synonymous CALML4 1 83406 1.19895E-5 41703 0 9.55536E-5
15-68489873-A-G p.Met57Thr missense CALML4 1 83406 1.19895E-5 41703 0 9.55536E-5
15-68489878-T-A p.Leu55Leu synonymous CALML4 2 83400 2.39808E-5 41700 0 4.0067E-6
15-68489880-G-C p.Leu55Val missense CALML4 1 83400 1.19904E-5 41700 0 5.03525E-4
15-68489885-A-ATTTC p.Ile53fs frameshift CALML4 3 83406 3.59686E-5 41703 0 1.65612E-5
15-68489885-ATTTC-A p.Glu52fs frameshift CALML4 1 83406 1.19895E-5 41703 0 NA
15-68489887-TTC-T p.Glu52fs frameshift CALML4 1 83404 1.19898E-5 41702 0 NA
15-68489899-GTCT-G p.Glu47del disruptive_inframe_deletion CALML4 9 83392 1.07924E-4 41696 0 3.31252E-5
15-68489902-T-G p.Glu47Asp missense CALML4 1 83392 1.19916E-5 41696 0 6.3678E-5
15-68489906-T-C p.Gln46Arg missense CALML4 1 83394 1.19913E-5 41697 0 8.28157E-6
15-68489907-G-C p.Gln46Glu missense CALML4 4 83392 4.79662E-5 41696 0 4.96903E-5
15-68489912-ATTTG-A p.Gln43fs frameshift CALML4 1 83392 1.19916E-5 41696 0 1.20208E-5
15-68489931-T-G p.Ter30Cysext*? stop_lost CALML4 1 83378 1.19936E-5 41689 0 4.00811E-6
15-68489934-G-GA p.Leu37fs frameshift CALML4 3 83380 3.59799E-5 41690 0 3.18532E-5
15-68489939-G-A p.Thr35Ile missense CALML4 13 83366 1.55939E-4 41683 1 NA
15-68489943-A-C p.Ser34Ala missense CALML4 2 83368 2.399E-5 41684 0 3.31912E-5
15-68489964-C-T p.Gly27Arg missense+splice_region CALML4 17 83276 2.0414E-4 41638 0 3.50475E-4
15-68489965-G-A p.Thr19Met missense+splice_region CALML4 1 83270 1.20091E-5 41635 0 4.01432E-5
15-68489968-T-TA c.77-3dupT splice_region CALML4 1 83262 1.20103E-5 41631 0 NA
15-68489969-A-G c.77-3T>C splice_region CALML4 1 83264 1.201E-5 41632 0 NA
15-68489971-G-A c.77-5C>T splice_region CALML4 2 83242 2.40263E-5 41621 0 NA
15-68491873-A-G c.76+6T>C splice_region CALML4 1 81952 1.22023E-5 40976 0 6.4704E-5
15-68491876-C-T c.76+3G>A splice_region CALML4 1 82030 1.21907E-5 41015 0 3.23329E-5
15-68491885-C-T p.Gly24Arg missense CALML4 1 82214 1.21634E-5 41107 0 3.19652E-5
15-68491885-C-G p.Gly24Arg missense CALML4 1 82214 1.21634E-5 41107 0 4.0305E-6
15-68491886-G-A p.His23His synonymous CALML4 127 82210 0.00154482 41105 0 0.00163179
15-68491890-G-A p.Thr22Ile missense CALML4 1 82288 1.21524E-5 41144 0 1.68677E-5
15-68491902-C-T p.Arg18Gln missense CALML4 4 82348 4.85743E-5 41174 0 8.42929E-5
15-68491905-T-C p.Gln17Arg missense CALML4 2 82378 2.42783E-5 41189 0 3.19734E-5
15-68491907-C-G p.Val16Val synonymous CALML4 5 82372 6.07002E-5 41186 0 1.27804E-4
15-68491914-C-T p.Gly14Glu missense CALML4 1 82460 1.21271E-5 41230 0 4.02042E-6
15-68491915-C-T p.Gly14Arg missense CALML4 1 82456 1.21277E-5 41228 0 3.19632E-5
15-68491916-T-G p.Pro13Pro synonymous CALML4 1 82454 1.2128E-5 41227 0 4.02039E-6
15-68491919-C-G p.Thr12Thr synonymous CALML4 5 82434 6.06546E-5 41217 0 3.21613E-5
15-68491919-C-T p.Thr12Thr synonymous CALML4 8 82434 9.70473E-5 41217 0 6.25E-4
15-68491920-G-A p.Thr12Met missense CALML4 4 82426 4.85284E-5 41213 1 6.40123E-5
15-68491923-G-A p.Pro11Leu missense CALML4 6 82444 7.27767E-5 41222 0 6.40574E-5
15-68491937-GCA-G p.Cys6fs frameshift CALML4 2 82280 2.43072E-5 41140 0 4.02033E-6
15-68491938-C-T p.Cys6Tyr missense CALML4 5 82290 6.07607E-5 41145 0 6.39713E-5
15-68491948-C-G p.Ala3Pro missense CALML4 1 82244 1.21589E-5 41122 0 8.43284E-6
15-68491949-C-T p.Val2Val synonymous CALML4 5 82256 6.07858E-5 41128 0 4.21727E-5
15-68491955-G-A p.Leu76Leu synonymous CALML4 1 82214 1.21634E-5 41107 0 NA
15-68491956-AGGTCGGT-A p.Thr74fs frameshift CALML4 1 82172 1.21696E-5 41086 0 8.44566E-6
15-68491966-C-T p.Ala73Thr missense CALML4 1 81922 1.22067E-5 40961 0 NA
15-68491971-A-ATCT p.Arg60dup conservative_inframe_insertion CALML4 1 81856 1.22166E-5 40928 0 NA
15-68491972-T-G p.Arg60Ser missense CALML4 1 81830 1.22205E-5 40915 0 8.47702E-6
15-68491987-G-A p.Gln66* stop_gained CALML4 4 81486 4.90882E-5 40743 0 1.21113E-5
15-68491991-G-C p.Thr54Arg missense CALML4 1 81438 1.22793E-5 40719 0 NA
15-68492006-G-A p.Ala49Val missense CALML4 4 81162 4.92841E-5 40581 0 9.60676E-5
15-68492008-A-G p.Cys59Arg missense CALML4 61 81166 7.51546E-4 40583 0 0.00118651
15-68492024-A-G c.133-5T>C splice_region CALML4 1 80848 1.23689E-5 40424 0 NA
15-68492027-C-T c.-73G>A 5_prime_UTR_premature_start_codon_gain CALML4 41 80718 5.07941E-4 40359 1 0.00121631
15-68492028-G-A c.-74C>T 5_prime_UTR_premature_start_codon_gain CALML4 40185 78728 0.510428 39364 10560 0.492862
15-68492051-G-A c.-97C>T 5_prime_UTR_premature_start_codon_gain CALML4 8 79196 1.01015E-4 39598 0 8.63677E-5
15-68492252-T-C c.-298A>G 5_prime_UTR_premature_start_codon_gain CALML4 1 18760 5.33049E-5 9380 0 NA
15-68497463-A-G p.Ile53Ile synonymous CALML4 1 83354 1.1997E-5 41677 0 8.27431E-6
15-68497471-C-G p.Asp51His missense CALML4 1 83354 1.1997E-5 41677 0 NA
15-68497480-G-T p.Leu48Ile missense CALML4 1 83352 1.19973E-5 41676 0 NA
15-68497488-GCCTGCAGCAGAGAAAGGAAAACAGTCAGGGGAGGGCTCCACCTGAGGTTCACGCCCCCAGCCCTGGCCAGGCCGACACAGACCCTCACACTCA-G p.Ala45fs frameshift CALML4 1 83346 1.19982E-5 41673 0 NA
15-68497576-C-T c.132+7G>A splice_region CALML4 1 83284 1.20071E-5 41642 0 NA
15-68497582-C-T c.132+1G>A splice_donor CALML4 8 83302 9.60361E-5 41651 0 1.59256E-4
15-68497582-C-G c.132+1G>C splice_donor CALML4 1 83302 1.20045E-5 41651 0 1.19327E-5
15-68497596-C-T p.Arg40Gln missense CALML4 1 83286 1.20068E-5 41643 0 9.55962E-5
15-68497597-G-A p.Arg40* stop_gained CALML4 3270 83276 0.039267 41638 252 0.0721935
15-68497597-GGCTGCTACCCGTGGGCTT-G p.Lys34_Ser39del conservative_inframe_deletion CALML4 1 83294 1.20057E-5 41647 0 NA
15-68497606-C-T p.Gly37Ser missense CALML4 1 83282 1.20074E-5 41641 0 8.24797E-6
15-68497607-C-T p.Thr36Thr synonymous CALML4 52 83286 6.24355E-4 41643 1 0.00162514
15-68497608-G-C p.Thr36Arg missense CALML4 1 83286 1.20068E-5 41643 0 9.56023E-5
15-68497608-G-A p.Thr36Met missense CALML4 1 83286 1.20068E-5 41643 0 3.2994E-5
15-68497631-G-A p.Arg28Arg synonymous CALML4 2 83282 2.40148E-5 41641 0 3.18613E-5
15-68497632-C-T p.Arg28His missense CALML4 12 83278 1.44096E-4 41639 1 4.14092E-4
15-68497633-G-A p.Arg28Cys missense CALML4 29 83286 3.48198E-4 41643 0 3.18208E-4
15-68497643-C-T p.Lys24Lys synonymous CALML4 2 83286 2.40136E-5 41643 0 6.36862E-5
15-68497649-T-C p.Gly22Gly synonymous CALML4 1 83278 1.2008E-5 41639 0 1.19374E-5
15-68497666-A-C p.Phe17Val missense CALML4 4 83274 4.80342E-5 41637 0 9.15452E-5
15-68497669-C-G p.Asp16His missense CALML4 1 83272 1.20088E-5 41636 0 NA
15-68497677-C-T p.Ser13Asn missense CALML4 1 83252 1.20117E-5 41626 0 7.96419E-6
15-68497678-T-C p.Ser13Gly missense CALML4 1 83244 1.20129E-5 41622 0 NA
15-68497687-G-A p.Pro10Ser missense CALML4 1 83202 1.20189E-5 41601 0 8.30786E-6
15-68497688-C-T p.Gly9Gly synonymous CALML4 1 83210 1.20178E-5 41605 0 NA
15-68497690-C-T p.Gly9Arg missense CALML4 1 83200 1.20192E-5 41600 0 3.18593E-5
15-68497690-C-G p.Gly9Arg missense CALML4 1 83200 1.20192E-5 41600 0 3.32458E-5
15-68497691-G-A c.-174C>T 5_prime_UTR_premature_start_codon_gain CALML4 1 83204 1.20187E-5 41602 0 6.25782E-4
15-68497694-T-C c.-177A>G 5_prime_UTR_premature_start_codon_gain CALML4 1 83188 1.2021E-5 41594 0 NA
15-68497703-C-G p.Glu4Asp missense CALML4 1 83132 1.20291E-5 41566 0 1.66708E-5
15-68497705-C-T p.Glu4Lys missense CALML4 4 83108 4.81301E-5 41554 0 5.00626E-5
15-68497714-T-C p.Met1? start_lost CALML4 2 83030 2.40877E-5 41515 0 3.99198E-6
15-68497727-C-A c.-13G>T 5_prime_UTR_premature_start_codon_gain CALML4 18 82866 2.17218E-4 41433 0 2.54842E-4
15-68497728-G-A c.-14C>T 5_prime_UTR_premature_start_codon_gain CALML4 4 82844 4.82835E-5 41422 0 3.36383E-5
15-68497782-T-A c.-68A>T 5_prime_UTR_premature_start_codon_gain CALML4 1 80274 1.24573E-5 40137 0 3.18593E-5
15-68497858-G-A c.-144C>T 5_prime_UTR_premature_start_codon_gain CALML4 11 64990 1.69257E-4 32495 0 4.14118E-4
15-68497891-G-A c.-177C>T 5_prime_UTR_premature_start_codon_gain CALML4 3 49012 6.12095E-5 24506 0 9.55657E-5
15-68497940-G-A c.-226C>T 5_prime_UTR_premature_start_codon_gain CALML4 11 30344 3.6251E-4 15172 0 0.00124315
15-68497943-G-A c.-229C>T 5_prime_UTR_premature_start_codon_gain CALML4 2 29140 6.86342E-5 14570 0 NA
15-68497993-G-A c.-279C>T 5_prime_UTR_premature_start_codon_gain CALML4 1 18664 5.35791E-5 9332 0 3.18776E-5
15-68498052-T-C c.-338A>G 5_prime_UTR_premature_start_codon_gain CALML4 2448 5978 0.409501 2989 308 0.568512
15-68498268-T-G c.-554A>C 5_prime_UTR_premature_start_codon_gain CALML4 180 180 1.0 90 90 0.999968
15-68498271-T-A c.-557A>T 5_prime_UTR_premature_start_codon_gain CALML4 1 1490 6.71141E-4 745 0 NA