Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
13-77522684-T-G c.-10T>G 5_prime_UTR_premature_start_codon_gain IRG1 73 77290 9.44495E-4 38645 2 0.00181633
13-77522710-T-A c.12+5T>A splice_region IRG1 14 77270 1.81183E-4 38635 0 6.1267E-5
13-77526645-A-G p.Thr12Ala missense IRG1 1 77472 1.29079E-5 38736 0 NA
13-77526647-A-C p.Thr12Thr synonymous IRG1 1 77480 1.29066E-5 38740 0 6.09607E-5
13-77526648-G-A p.Ala13Thr missense IRG1 3 77478 3.87207E-5 38739 0 6.03096E-5
13-77526655-A-G p.His15Arg missense IRG1 18 77504 2.32246E-4 38752 0 1.54063E-4
13-77526655-A-C p.His15Pro missense IRG1 1 77504 1.29026E-5 38752 0 NA
13-77526657-G-T p.Gly16Cys missense IRG1 6 77508 7.74114E-5 38754 0 2.67928E-5
13-77526673-A-C p.His21Pro missense IRG1 1 77548 1.28952E-5 38774 0 NA
13-77526679-C-T p.Thr23Ile missense IRG1 1 77548 1.28952E-5 38774 0 1.27502E-4
13-77526681-G-A p.Asp24Asn missense IRG1 1 77556 1.28939E-5 38778 0 NA
13-77526685-G-T p.Arg25Leu missense IRG1 1 77556 1.28939E-5 38778 0 3.18715E-5
13-77526685-G-A p.Arg25His missense IRG1 1 77556 1.28939E-5 38778 0 2.68068E-5
13-77526687-G-A p.Val26Ile missense IRG1 2 77564 2.57852E-5 38782 0 6.7016E-6
13-77526699-A-G p.Ser30Gly missense IRG1 1 77560 1.28932E-5 38780 0 NA
13-77526702-AAGAGGATGATTCT-A p.Arg32fs frameshift IRG1 1 77562 1.28929E-5 38781 0 1.27437E-4
13-77526704-G-A p.Lys31Lys synonymous IRG1 1 77566 1.28922E-5 38783 0 3.18674E-5
13-77526727-G-A p.Gly39Asp missense IRG1 3 77548 3.86857E-5 38774 0 6.06061E-5
13-77526734-G-A p.Gly41Gly synonymous IRG1 1 77554 1.28942E-5 38777 0 NA
13-77526734-G-C p.Gly41Gly synonymous IRG1 1 77554 1.28942E-5 38777 0 NA
13-77526748-C-A p.Thr46Asn missense IRG1 1 77544 1.28959E-5 38772 0 6.71159E-6
13-77526751-C-T p.Thr47Met missense IRG1 1 77524 1.28992E-5 38762 0 6.25E-4
13-77526752-G-A p.Thr47Thr synonymous IRG1 16 77516 2.06409E-4 38758 0 3.50519E-4
13-77526779-T-C p.Tyr56Tyr synonymous IRG1 2 77364 2.58518E-5 38682 0 6.37592E-5
13-77526786-G-A c.174+1G>A splice_donor IRG1 1 77290 1.29383E-5 38645 0 3.18492E-5
13-77527728-G-A c.175-7G>A splice_region IRG1 4 77722 5.14655E-5 38861 0 9.54988E-5
13-77527731-C-G c.175-4C>G splice_region IRG1 2 77740 2.57268E-5 38870 0 NA
13-77527743-T-G p.Ser61Arg missense IRG1 79 77792 0.00101553 38896 1 0.00378788
13-77527764-T-A p.Val68Val synonymous IRG1 8322 77648 0.107176 38824 512 0.126526
13-77527765-T-A p.Trp69Arg missense IRG1 1 77866 1.28426E-5 38933 0 NA
13-77527776-A-T p.Pro72Pro synonymous IRG1 1 77880 1.28403E-5 38940 0 6.61664E-6
13-77527791-G-T p.Pro77Pro synonymous IRG1 1615 77860 0.0207424 38930 100 0.0430337
13-77527791-G-A p.Pro77Pro synonymous IRG1 2 77876 2.56819E-5 38938 0 1.98668E-5
13-77527796-C-T p.Thr79Ile missense IRG1 1 77874 1.28413E-5 38937 0 NA
13-77527798-T-C p.Tyr80His missense IRG1 2 77866 2.56852E-5 38933 0 5.71037E-5
13-77527809-T-C p.Phe83Phe synonymous IRG1 1 77846 1.28459E-5 38923 0 NA
13-77527815-C-T p.Asn85Asn synonymous IRG1 2 77830 2.5697E-5 38915 0 1.32668E-5
13-77527816-G-A p.Gly86Ser missense IRG1 33 77826 4.24023E-4 38913 0 8.27762E-4
13-77527816-G-T p.Gly86Cys missense IRG1 1 77828 1.28488E-5 38914 0 6.63693E-6
13-77527822-G-T p.Ala88Ser missense+splice_region IRG1 1 77822 1.28498E-5 38911 0 NA
13-77527825-G-T c.264+1G>T splice_donor IRG1 1 77818 1.28505E-5 38909 0 NA
13-77527827-AAGG-A c.264+4_264+6delAGG splice_region IRG1 1 77796 1.28541E-5 38898 0 NA
13-77529451-C-T c.265-3C>T splice_region IRG1 182 77062 0.00236173 38531 2 0.00538491
13-77529466-G-A p.Asp93Asn missense IRG1 1 77328 1.29319E-5 38664 0 NA
13-77529474-T-C p.Asp95Asp synonymous IRG1 5 77392 6.46062E-5 38696 0 2.23029E-4
13-77529479-C-T p.Thr97Met missense IRG1 1 77416 1.29172E-5 38708 0 6.05914E-5
13-77529497-A-T p.His103Leu missense IRG1 1 77446 1.29122E-5 38723 0 NA
13-77529504-T-C p.Ser105Ser synonymous IRG1 1 77446 1.29122E-5 38723 0 1.34124E-5
13-77529507-G-T p.Gly106Gly synonymous IRG1 1 77440 1.29132E-5 38720 0 NA
13-77529507-G-A p.Gly106Gly synonymous IRG1 1 77440 1.29132E-5 38720 0 NA
13-77529554-G-A p.Ser122Asn missense IRG1 3 77506 3.87067E-5 38753 0 1.81532E-4
13-77529576-C-T p.Asp129Asp synonymous IRG1 1 77480 1.29066E-5 38740 0 NA
13-77529578-T-C p.Leu130Pro missense IRG1 9 77484 1.16153E-4 38742 0 0.00125
13-77529602-T-C p.Ile138Thr missense IRG1 4 77450 5.16462E-5 38725 0 7.3614E-5
13-77529616-C-T p.Arg143* stop_gained IRG1 3 77384 3.87677E-5 38692 0 6.37024E-5
13-77529617-G-A p.Arg143Gln missense IRG1 1 77392 1.29212E-5 38696 0 6.06575E-5
13-77529617-G-T p.Arg143Leu missense IRG1 1 77392 1.29212E-5 38696 0 4.68365E-5
13-77529630-C-T p.Phe147Phe synonymous IRG1 37 77306 4.78617E-4 38653 1 0.001875
13-77529631-G-A p.Ala148Thr missense IRG1 5 77286 6.46948E-5 38643 0 1.91058E-4
13-77529631-G-T p.Ala148Ser missense IRG1 2 77286 2.58779E-5 38643 0 NA
13-77529633-C-T p.Ala148Ala synonymous IRG1 1 77282 1.29396E-5 38641 0 3.18431E-5
13-77529637-G-A p.Glu150Lys missense IRG1 1 77268 1.2942E-5 38634 0 6.69389E-6
13-77529643-A-G p.Asn152Asp missense IRG1 1 77226 1.2949E-5 38613 0 NA
13-77529644-A-G p.Asn152Ser missense IRG1 1597 77166 0.0206956 38583 93 0.0431529
13-77531149-C-A p.His159Asn missense IRG1 1 77660 1.28766E-5 38830 0 NA
13-77531160-C-T p.Ser162Ser synonymous IRG1 1 77658 1.2877E-5 38829 0 1.35966E-5
13-77531161-G-A p.Val163Met missense IRG1 5 77660 6.43832E-5 38830 0 2.5481E-4
13-77531172-G-A p.Thr166Thr synonymous IRG1 6 77662 7.72579E-5 38831 1 6.72676E-5
13-77531179-A-G p.Ser169Gly missense IRG1 655 77654 0.00843485 38827 3 0.019375
13-77531188-G-A p.Ala172Thr missense IRG1 2 77664 2.5752E-5 38832 0 6.71141E-6
13-77531195-C-T p.Ser174Phe missense IRG1 1 77658 1.2877E-5 38829 0 NA
13-77531200-T-A p.Phe176Ile missense IRG1 3 77662 3.86289E-5 38831 0 NA
13-77531216-C-T p.Ser181Leu missense IRG1 4 77632 5.15251E-5 38816 0 6.70574E-6
13-77531217-G-T p.Ser181Ser synonymous IRG1 1 77632 1.28813E-5 38816 0 NA
13-77531219-C-A p.Thr182Lys missense IRG1 1 77630 1.28816E-5 38815 0 NA
13-77531225-G-C p.Cys184Ser missense IRG1 2 77614 2.57685E-5 38807 0 2.42483E-4
13-77531232-A-C p.Glu186Asp missense IRG1 1 77620 1.28833E-5 38810 0 3.1841E-5
13-77531237-T-C p.Leu188Pro missense IRG1 2 77610 2.57699E-5 38805 0 NA
13-77531242-A-T p.Ile190Phe missense IRG1 1 77610 1.28849E-5 38805 0 NA
13-77531244-TG-T p.Ala191fs frameshift IRG1 2 77606 2.57712E-5 38803 0 NA
13-77531244-T-A p.Ile190Ile synonymous IRG1 1 77606 1.28856E-5 38803 0 NA
13-77531248-G-A p.Val192Ile missense IRG1 2 77600 2.57732E-5 38800 0 NA
13-77531256-T-C p.His194His synonymous IRG1 14 77584 1.8045E-4 38792 0 1.91046E-4
13-77531277-T-C p.Asn201Asn synonymous IRG1 1 77562 1.28929E-5 38781 0 NA
13-77531305-A-C p.Ile211Leu missense IRG1 1 77526 1.28989E-5 38763 0 NA
13-77531315-C-T p.Ala214Val missense IRG1 1 77526 1.28989E-5 38763 0 6.36821E-5
13-77531316-T-G p.Ala214Ala synonymous IRG1 1 77532 1.28979E-5 38766 0 3.18431E-5
13-77531323-C-T p.His217Tyr missense IRG1 1 77524 1.28992E-5 38762 0 NA
13-77531330-T-C p.Ile219Thr missense IRG1 1 77498 1.29036E-5 38749 0 6.7061E-6
13-77531344-T-C p.Leu224Leu synonymous IRG1 1 77458 1.29102E-5 38729 0 6.70835E-6
13-77531358-T-C p.Gly228Gly synonymous IRG1 6 77426 7.74934E-5 38713 0 2.22916E-4
13-77531361-C-T p.Leu229Leu synonymous IRG1 4168 77350 0.0538849 38675 122 0.0468412
13-77531363-A-C p.Gln230Pro missense IRG1 8 77424 1.03327E-4 38712 0 3.35467E-5
13-77531377-G-A p.Val235Ile missense IRG1 2 77378 2.58471E-5 38689 0 6.71033E-6
13-77531382-G-A p.Leu236Leu synonymous IRG1 1 77378 1.29236E-5 38689 0 NA
13-77531386-T-G p.Leu238Val missense IRG1 3 77358 3.87807E-5 38679 0 6.36699E-5
13-77531390-A-C p.Glu239Ala missense IRG1 3 77366 3.87767E-5 38683 0 9.55475E-5
13-77531393-C-A p.Ala240Glu missense IRG1 1 77352 1.29279E-5 38676 0 6.70988E-6
13-77531396-G-A p.Gly241Glu missense IRG1 1 77352 1.29279E-5 38676 0 NA
13-77531417-A-C p.Asn248Thr missense IRG1 1 77380 1.29232E-5 38690 0 NA
13-77531433-C-T p.Val253Val synonymous IRG1 1 77380 1.29232E-5 38690 0 6.70916E-6
13-77531434-C-T p.Leu254Phe missense IRG1 7 77382 9.04603E-5 38691 0 9.55292E-5
13-77531451-C-T p.Ser259Ser synonymous IRG1 7 77398 9.04416E-5 38699 0 NA
13-77531474-A-G p.Gln267Arg missense IRG1 2 77378 2.58471E-5 38689 0 2.68399E-5
13-77531478-C-T p.Asp268Asp synonymous IRG1 4 77372 5.16983E-5 38686 0 9.55414E-5
13-77531479-G-A p.Val269Met missense IRG1 1 77346 1.29289E-5 38673 0 6.3678E-5
13-77531483-C-T p.Ala270Val missense IRG1 1 77324 1.29326E-5 38662 0 NA
13-77531491-C-T p.Arg273Cys missense IRG1 3 77304 3.88078E-5 38652 0 4.02717E-5
13-77531492-G-A p.Arg273His missense IRG1 271 77304 0.00350564 38652 0 0.00789658
13-77531499-T-C p.Pro275Pro synonymous IRG1 4 77278 5.17612E-5 38639 0 4.02739E-5
13-77531529-C-T p.Asp285Asp synonymous IRG1 14 77146 1.81474E-4 38573 0 3.63372E-4
13-77531530-G-A p.Ala286Thr missense IRG1 4 77114 5.18713E-5 38557 0 6.25E-4
13-77531537-C-T p.Ala288Val missense IRG1 2 77128 2.59309E-5 38564 0 NA
13-77531551-C-T p.His293Tyr missense IRG1 1 77098 1.29705E-5 38549 0 6.3678E-5
13-77531584-G-A p.Asp304Asn missense IRG1 1 77232 1.2948E-5 38616 0 NA
13-77531597-G-T p.Arg308Ile missense IRG1 1 77314 1.29343E-5 38657 0 9.55231E-5
13-77531600-T-C p.Ile309Thr missense IRG1 3 77320 3.87998E-5 38660 0 NA
13-77531611-A-C p.Ile313Leu missense IRG1 1 77372 1.29246E-5 38686 0 3.18329E-5
13-77531628-T-C p.Tyr318Tyr synonymous IRG1 2 77434 2.58284E-5 38717 0 NA
13-77531636-G-A p.Arg321Lys missense IRG1 1 77446 1.29122E-5 38723 0 6.70673E-6
13-77531651-C-T p.Ser326Leu missense IRG1 4 77470 5.16329E-5 38735 0 0.00125
13-77531651-C-A p.Ser326* stop_gained IRG1 2 77474 2.58151E-5 38737 0 NA
13-77531652-G-A p.Ser326Ser synonymous IRG1 1549 77458 0.0199979 38729 26 0.0226115
13-77531653-G-A p.Glu327Lys missense IRG1 3 77476 3.87217E-5 38738 0 NA
13-77531655-G-A p.Glu327Glu synonymous IRG1 10 77480 1.29066E-4 38740 0 1.59195E-4
13-77531665-C-T p.Arg331Cys missense IRG1 1 77494 1.29042E-5 38747 0 6.70574E-6
13-77531678-A-G p.Gln335Arg missense IRG1 1 77494 1.29042E-5 38747 0 2.42072E-4
13-77531708-G-A p.Gly345Asp missense IRG1 1 77466 1.29089E-5 38733 0 NA
13-77531711-G-A p.Gly346Asp missense IRG1 1 77464 1.29092E-5 38732 0 6.69945E-6
13-77531717-C-T p.Thr348Ile missense IRG1 3 77448 3.87357E-5 38724 0 6.04157E-5
13-77531724-C-T p.Pro350Pro synonymous IRG1 1 77426 1.29156E-5 38713 0 NA
13-77531727-A-C p.Ser351Ser synonymous IRG1 14 77408 1.8086E-4 38704 0 0.00440928
13-77531757-G-A p.Gln361Gln synonymous IRG1 96 77406 0.00124021 38703 2 0.00308937
13-77531758-G-A p.Val362Met missense IRG1 1 77414 1.29176E-5 38707 0 6.6947E-6
13-77531762-G-A p.Arg363Lys missense IRG1 1 77398 1.29202E-5 38699 0 NA
13-77531765-A-G p.Glu364Gly missense IRG1 1 77394 1.29209E-5 38697 0 NA
13-77531774-G-A p.Ser367Asn missense IRG1 7 77364 9.04814E-5 38682 0 4.68974E-5
13-77531779-G-T p.Val369Leu missense IRG1 1 77358 1.29269E-5 38679 0 NA
13-77531781-G-A p.Val369Val synonymous IRG1 1 77334 1.29309E-5 38667 0 6.70187E-6
13-77531788-G-A p.Glu372Lys missense IRG1 2 77332 2.58625E-5 38666 0 3.1839E-5
13-77531790-G-A p.Glu372Glu synonymous IRG1 1 77320 1.29333E-5 38660 0 NA
13-77531794-C-T p.Pro374Ser missense IRG1 2 77320 2.58665E-5 38660 0 6.03792E-5
13-77531795-C-T p.Pro374Leu missense IRG1 8 77328 1.03455E-4 38664 0 2.23001E-4
13-77531798-C-T p.Pro375Leu missense IRG1 1 77322 1.29329E-5 38661 0 6.03865E-5
13-77531799-G-A p.Pro375Pro synonymous IRG1 22 77306 2.84583E-4 38653 0 1.81269E-4
13-77531805-C-T p.Asn377Asn synonymous IRG1 1 77322 1.29329E-5 38661 0 NA
13-77531819-A-G p.Asn382Ser missense IRG1 2 77366 2.58511E-5 38683 0 2.01167E-5
13-77531824-CT-C p.Leu384fs frameshift IRG1 1 77402 1.29196E-5 38701 0 3.18573E-5
13-77531843-T-C p.Val390Ala missense IRG1 2 77380 2.58465E-5 38690 0 3.18573E-5
13-77531850-C-G p.Leu392Leu synonymous IRG1 1 77450 1.29116E-5 38725 0 NA
13-77531861-C-T p.Ala396Val missense IRG1 1 77504 1.29026E-5 38752 0 NA
13-77531866-T-G p.Phe398Val missense IRG1 1 77538 1.28969E-5 38769 0 2.67623E-5
13-77531872-G-T p.Asp400Tyr missense IRG1 1 77574 1.28909E-5 38787 0 3.18471E-5
13-77531875-C-T p.Arg401Cys missense IRG1 3 77570 3.86747E-5 38785 0 6.01902E-5
13-77531876-G-A p.Arg401His missense IRG1 5 77574 6.44546E-5 38787 0 6.25E-4
13-77531877-C-T p.Arg401Arg synonymous IRG1 1 77582 1.28896E-5 38791 0 3.18431E-5
13-77531878-T-A p.Ser402Thr missense IRG1 1 77590 1.28883E-5 38795 0 NA
13-77531879-C-T p.Ser402Phe missense IRG1 1 77604 1.28859E-5 38802 0 2.00478E-5
13-77531886-C-T p.Thr404Thr synonymous IRG1 1 77656 1.28773E-5 38828 0 6.67878E-6
13-77531898-C-T p.His408His synonymous IRG1 1 77708 1.28687E-5 38854 0 3.1841E-5
13-77531917-C-T p.Gln415* stop_gained IRG1 2 77740 2.57268E-5 38870 0 NA
13-77531922-G-A p.Glu416Glu synonymous IRG1 2 77734 2.57288E-5 38867 0 NA
13-77531938-T-C p.Phe422Leu missense IRG1 1 77726 1.28657E-5 38863 0 6.63561E-6
13-77531948-A-G p.Asn425Ser missense IRG1 1 77706 1.2869E-5 38853 0 NA
13-77531955-C-T p.Ser427Ser synonymous IRG1 1 77704 1.28694E-5 38852 0 1.98786E-5
13-77531958-G-T p.Lys428Asn missense IRG1 1 77694 1.2871E-5 38847 0 6.36983E-5
13-77531959-A-G p.Met429Val missense IRG1 6 77686 7.7234E-5 38843 0 5.75838E-5
13-77531960-T-C p.Met429Thr missense IRG1 1 77690 1.28717E-5 38845 0 1.12593E-4
13-77531961-G-T p.Met429Ile missense IRG1 1 77690 1.28717E-5 38845 0 6.62357E-6
13-77531968-T-C p.Trp432Arg missense IRG1 1 77674 1.28743E-5 38837 0 6.25E-4
13-77531992-A-C p.Lys440Gln missense IRG1 2 77594 2.57752E-5 38797 0 NA
13-77531993-A-C p.Lys440Thr missense IRG1 121 77582 0.00155964 38791 0 0.00187874
13-77531996-T-C p.Ile441Thr missense IRG1 223 77572 0.00287475 38786 0 0.008125
13-77532008-T-C p.Leu445Pro missense IRG1 2 77584 2.57785E-5 38792 0 NA
13-77532018-A-G p.Leu448Leu synonymous IRG1 1 77618 1.28836E-5 38809 0 NA
13-77532026-G-T p.Cys451Phe missense IRG1 1 77618 1.28836E-5 38809 0 NA
13-77532056-C-G p.Pro461Arg missense IRG1 1 77642 1.28796E-5 38821 0 1.34329E-5
13-77532064-CCAGAGGTAG-C p.Glu465_Ala467del disruptive_inframe_deletion IRG1 25 77652 3.21949E-4 38826 0 2.64131E-4
13-77532071-T-C p.Val466Ala missense IRG1 3 77658 3.86309E-5 38829 0 3.18471E-5
13-77532089-C-T p.Ala472Val missense IRG1 9 77628 1.15938E-4 38814 0 NA
13-77532094-A-T p.Asn474Tyr missense IRG1 175 77588 0.0022555 38794 0 0.00359781
13-77532104-T-C p.Ile477Thr missense IRG1 2 77556 2.57878E-5 38778 0 3.18451E-5
13-77532109-A-G p.Asn479Asp missense IRG1 1 77526 1.28989E-5 38763 0 1.6203E-5
13-77532112-C-A p.Leu480Ile missense IRG1 1 77514 1.29009E-5 38757 0 5.72429E-5
13-77532117-C-G p.Ser481Ser synonymous IRG1 1 77494 1.29042E-5 38747 0 NA