Annotation Categories of the Plasmid Cluster







Summary of the plasmid cluster

Basic Information about the Plasmid Cluster

  Cluster Information   Plasmid Cluster ID   C2135
  Reference Plasmid   1111525849743147_bin.10__k141_97192
  Reference Plasmid Size   26513
  Reference Plasmid GC Content   0.65
  Reference Plasmid Mobility Type   non-mobilizable





Mutation sites in the plasmid cluster


The table lists mutations identified in the plasmid cluster.
Note: Mutations identified in this plasmid cluster are listed below. Click on a mutation ID to view full details..

mutid gname pos count tissue frequnt biotype consequence impact nucchange aachange
M0025735 JAIGNABE_00003 2428 18 Skin 0.08 protein_coding upstream_gene_variant MODIFIER -73T>C None
M0025736 JAIGNABE_00003 2429 18 Skin 0.08 protein_coding upstream_gene_variant MODIFIER -72G>A None
M0025737 JAIGNABE_00003 2437 18 Skin 0.08 protein_coding upstream_gene_variant MODIFIER -64T>C None
M0025738 JAIGNABE_00003 2443 18 Skin 0.08 protein_coding upstream_gene_variant MODIFIER -58A>G None
M0025739 JAIGNABE_00003 2455 18 Skin 0.08 protein_coding upstream_gene_variant MODIFIER -46C>T None
M0025740 JAIGNABE_00003 2464 17 Skin 0.07 protein_coding upstream_gene_variant MODIFIER -37A>G None
M0025741 JAIGNABE_00003 2470 17 Skin 0.07 protein_coding upstream_gene_variant MODIFIER -31A>C None
M0025742 JAIGNABE_00003 2506 22 Skin 0.09 protein_coding synonymous_variant LOW 6C>T Cys2Cys
M0025743 JAIGNABE_00003 2615 20 Skin 0.08 protein_coding missense_variant MODERATE 115A>G Ile39Val
M0025744 JAIGNABE_00003 2626 15 Skin 0.06 protein_coding synonymous_variant LOW 126A>G Thr42Thr
M0025745 JAIGNABE_00003 2632 20 Skin 0.08 protein_coding synonymous_variant LOW 132A>G Ala44Ala
M0025746 JAIGNABE_00003 2662 24 Skin 0.10 protein_coding synonymous_variant LOW 162G>C Pro54Pro
M0025747 JAIGNABE_00003 2680 17 Skin 0.07 protein_coding synonymous_variant LOW 180T>A Arg60Arg
M0025748 JAIGNABE_00003 2685 117 Skin 0.49 protein_coding missense_variant MODERATE 185C>T Ala62Val
M0025749 JAIGNABE_00003 2689 19 Skin 0.08 protein_coding synonymous_variant LOW 189T>C Gly63Gly
M0025750 JAIGNABE_00003 2767 17 Skin 0.07 protein_coding synonymous_variant LOW 267G>A Gly89Gly
M0025751 JAIGNABE_00003 2773 20 Skin 0.08 protein_coding synonymous_variant LOW 273A>G Ser91Ser
M0025752 JAIGNABE_00003 2788 35 Skin 0.15 protein_coding synonymous_variant LOW 288T>C Thr96Thr
M0025753 JAIGNABE_00003 2791 28 Skin 0.12 protein_coding synonymous_variant LOW 291T>G Leu97Leu
M0025754 JAIGNABE_00003 2815 24 Skin 0.10 protein_coding synonymous_variant LOW 315A>G Glu105Glu
M0025755 JAIGNABE_00003 2824 24 Skin 0.10 protein_coding synonymous_variant LOW 324A>G Pro108Pro
M0025756 JAIGNABE_00003 2830 12 Skin 0.05 protein_coding synonymous_variant LOW 330A>G Gly110Gly
M0025757 JAIGNABE_00003 2872 12 Skin 0.05 protein_coding synonymous_variant LOW 372C>T Val124Val
M0025758 JAIGNABE_00003 2878 18 Skin 0.08 protein_coding synonymous_variant LOW 378T>C Asp126Asp
M0025759 JAIGNABE_00003 2880 19 Skin 0.08 protein_coding missense_variant MODERATE 380A>G His127Arg
M0025760 JAIGNABE_00003 2920 13 Skin 0.05 protein_coding synonymous_variant LOW 420A>G Arg140Arg
M0025761 JAIGNABE_00003 2984 13 Skin 0.05 protein_coding synonymous_variant LOW 484C>T Leu162Leu
M0025762 JAIGNABE_00003 2989 33 Skin 0.14 protein_coding synonymous_variant LOW 489G>A Ala163Ala
M0025763 JAIGNABE_00003 2992 26 Skin 0.11 protein_coding synonymous_variant LOW 492C>T Asp164Asp
M0025764 JAIGNABE_00004 3102 14 Skin 0.06 protein_coding synonymous_variant LOW 66T>C Leu22Leu
M0025765 JAIGNABE_00004 3160 11 Skin 0.05 protein_coding missense_variant MODERATE 124G>A Ala42Thr
M0025766 JAIGNABE_00004 3277 11 Skin 0.05 protein_coding missense_variant MODERATE 241G>C Ala81Pro
M0025767 JAIGNABE_00004 3291 11 Skin 0.05 protein_coding synonymous_variant LOW 255A>T Pro85Pro
M0025768 JAIGNABE_00004 3317 10 Skin 0.04 protein_coding missense_variant MODERATE 281A>G Asn94Ser
M0025769 JAIGNABE_00004 3351 18 Skin 0.08 protein_coding synonymous_variant LOW 315T>C Ala105Ala
M0025770 JAIGNABE_00004 3523 19 Skin 0.08 protein_coding synonymous_variant LOW 487T>C Leu163Leu
M0025771 JAIGNABE_00004 3712 23 Skin 0.10 protein_coding missense_variant MODERATE 676C>A Pro226Thr
M0025772 JAIGNABE_00005 4008 20 Skin 0.08 protein_coding missense_variant MODERATE 124A>G Met42Val
M0025773 JAIGNABE_00005 4094 80 Skin 0.34 protein_coding synonymous_variant LOW 210T>C Ala70Ala
M0025774 JAIGNABE_00005 4136 104 Skin 0.44 protein_coding missense_variant MODERATE 252T>G Asp84Glu
M0025775 JAIGNABE_00005 4200 55 Skin 0.23 protein_coding synonymous_variant LOW 316C>T Leu106Leu
M0025776 JAIGNABE_00005 4349 51 Skin 0.21 protein_coding synonymous_variant LOW 465A>G Pro155Pro
M0025777 JAIGNABE_00005 4367 28 Skin 0.12 protein_coding synonymous_variant LOW 483T>A Gly161Gly
M0025778 JAIGNABE_00005 4373 23 Skin 0.10 protein_coding synonymous_variant LOW 489G>A Gly163Gly
M0025779 JAIGNABE_00005 4383 25 Skin 0.11 protein_coding missense_variant MODERATE 499G>A Glu167Lys
M0025780 JAIGNABE_00005 4427 77 Skin 0.32 protein_coding synonymous_variant LOW 543A>G Ala181Ala
M0025781 JAIGNABE_00005 4250 59 Skin 0.25 protein_coding synonymous_variant LOW 366T>C His122His
M0025782 JAIGNABE_00005 4274 104 Skin 0.44 protein_coding synonymous_variant LOW 390T>A Ile130Ile
M0025783 JAIGNABE_00006 5828 43 Skin 0.18 protein_coding missense_variant MODERATE 490G>A Asp164Asn
M0025784 JAIGNABE_00009 7904 55 Skin 0.23 protein_coding missense_variant MODERATE 412G>A Asp138Asn
M0025785 JAIGNABE_00010 8181 11 Skin 0.05 protein_coding synonymous_variant LOW 198C>T Val66Val
M0025786 JAIGNABE_00010 8220 88 Skin 0.37 protein_coding synonymous_variant LOW 237C>T Ser79Ser
M0025787 JAIGNABE_00010 8256 13 Skin 0.05 protein_coding synonymous_variant LOW 273C>T Gly91Gly
M0025788 JAIGNABE_00010 8283 92 Skin 0.39 protein_coding synonymous_variant LOW 300T>C Ala100Ala
M0025789 JAIGNABE_00010 8292 76 Skin 0.32 protein_coding synonymous_variant LOW 309C>T Ala103Ala
M0025790 JAIGNABE_00010 8304 11 Skin 0.05 protein_coding synonymous_variant LOW 321A>G Gly107Gly
M0025791 JAIGNABE_00010 8313 17 Skin 0.07 protein_coding synonymous_variant LOW 330C>T Cys110Cys
M0025792 JAIGNABE_00010 8340 9 Skin 0.04 protein_coding synonymous_variant LOW 357A>C Ala119Ala
M0025793 JAIGNABE_00010 8367 105 Skin 0.44 protein_coding synonymous_variant LOW 384T>C Thr128Thr
M0025794 JAIGNABE_00010 8403 125 Skin 0.53 protein_coding synonymous_variant LOW 420A>G Val140Val
M0025795 JAIGNABE_00010 8412 64 Skin 0.27 protein_coding synonymous_variant LOW 429G>A Ser143Ser
M0025796 JAIGNABE_00010 8425 9 Skin 0.04 protein_coding missense_variant MODERATE 442C>A Pro148Thr
M0025797 JAIGNABE_00010 8462 10 Skin 0.04 protein_coding missense_variant MODERATE 479A>G Gln160Arg
M0025798 JAIGNABE_00010 8466 76 Skin 0.32 protein_coding synonymous_variant LOW 483C>A Ala161Ala
M0025799 JAIGNABE_00011 9850 23 Skin 0.10 protein_coding missense_variant MODERATE 1355T>A Val452Glu
M0025800 JAIGNABE_00011 9853 20 Skin 0.08 protein_coding missense_variant MODERATE 1358C>T Pro453Leu
M0025801 JAIGNABE_00011 9863 22 Skin 0.09 protein_coding missense_variant MODERATE 1368C>G His456Gln
M0025802 JAIGNABE_00011 9864 21 Skin 0.09 protein_coding missense_variant MODERATE 1369A>G Thr457Ala
M0025803 JAIGNABE_00011 9881 21 Skin 0.09 protein_coding synonymous_variant LOW 1386C>T Val462Val
M0025804 JAIGNABE_00011 9887 30 Skin 0.13 protein_coding synonymous_variant LOW 1392T>C Thr464Thr
M0025805 JAIGNABE_00011 9924 7 Skin 0.03 protein_coding missense_variant MODERATE 1429A>G Thr477Ala
M0025806 JAIGNABE_00011 9926 7 Skin 0.03 protein_coding synonymous_variant LOW 1431G>T Thr477Thr
M0025807 JAIGNABE_00011 9937 7 Skin 0.03 protein_coding missense_variant MODERATE 1442G>A Gly481Asp
M0025808 JAIGNABE_00011 10060 13 Skin 0.05 protein_coding missense_variant MODERATE 1565C>T Ala522Val
M0025809 JAIGNABE_00011 10066 14 Skin 0.06 protein_coding missense_variant MODERATE 1571A>G Glu524Gly
M0025810 JAIGNABE_00011 10067 14 Skin 0.06 protein_coding missense_variant MODERATE 1572A>C Glu524Asp
M0025811 JAIGNABE_00011 10076 14 Skin 0.06 protein_coding synonymous_variant LOW 1581T>C Pro527Pro
M0025812 JAIGNABE_00011 10080 16 Skin 0.07 protein_coding missense_variant MODERATE 1585G>A Ala529Thr
M0025813 JAIGNABE_00011 10310 37 Skin 0.16 protein_coding synonymous_variant LOW 1815A>G Gln605Gln
M0025814 JAIGNABE_00011 10319 37 Skin 0.16 protein_coding synonymous_variant LOW 1824T>C Asp608Asp
M0025815 JAIGNABE_00011 10328 37 Skin 0.16 protein_coding synonymous_variant LOW 1833T>A Gly611Gly
M0025816 JAIGNABE_00011 10406 31 Skin 0.13 protein_coding synonymous_variant LOW 1911G>A Pro637Pro
M0025817 JAIGNABE_00011 10420 21 Skin 0.09 protein_coding missense_variant MODERATE 1925A>G Glu642Gly
M0025818 JAIGNABE_00011 10520 36 Skin 0.15 protein_coding synonymous_variant LOW 2025G>C Arg675Arg
M0025819 JAIGNABE_00011 10541 19 Skin 0.08 protein_coding synonymous_variant LOW 2046G>A Glu682Glu
M0025820 JAIGNABE_00011 10546 16 Skin 0.07 protein_coding missense_variant MODERATE 2051T>C Leu684Pro
M0025821 JAIGNABE_00011 10554 5 Skin 0.02 protein_coding missense_variant MODERATE 2059G>A Ala687Thr
M0025822 JAIGNABE_00005 5258 51 Skin 0.21 protein_coding synonymous_variant LOW 1374A>T Gly458Gly
M0025823 JAIGNABE_00005 5263 51 Skin 0.21 protein_coding missense_variant MODERATE 1379A>G Asn460Ser
M0025824 JAIGNABE_00005 5291 50 Skin 0.21 protein_coding synonymous_variant LOW 1407G>A Glu469Glu
M0025825 JAIGNABE_00005 5303 50 Skin 0.21 protein_coding synonymous_variant LOW 1419G>A Glu473Glu
M0025826 JAIGNABE_00005 5308 50 Skin 0.21 protein_coding missense_variant MODERATE 1424T>C Val475Ala
M0025827 JAIGNABE_00006 5417 106 Skin 0.45 protein_coding missense_variant MODERATE 79A>G Ile27Val
M0025828 JAIGNABE_00006 5424 122 Skin 0.51 protein_coding missense_variant MODERATE 86T>C Ile29Thr
M0025829 JAIGNABE_00006 5582 28 Skin 0.12 protein_coding missense_variant MODERATE 244A>G Ile82Val
M0025830 JAIGNABE_00006 5759 125 Skin 0.53 protein_coding synonymous_variant LOW 421T>C Leu141Leu
M0025831 JAIGNABE_00006 5799 24 Skin 0.10 protein_coding missense_variant MODERATE 461C>T Ala154Val
M0025832 JAIGNABE_00006 5899 136 Skin 0.57 protein_coding synonymous_variant LOW 561A>G Gly187Gly
M0025833 JAIGNABE_00006 5959 83 Skin 0.35 protein_coding synonymous_variant LOW 621C>T Arg207Arg
M0025834 JAIGNABE_00007 6461 22 Skin 0.09 protein_coding synonymous_variant LOW 147C>T Ser49Ser
M0025835 JAIGNABE_00007 6484 22 Skin 0.09 protein_coding missense_variant MODERATE 170C>T Thr57Ile
M0025836 JAIGNABE_00008 7331 19 Skin 0.08 protein_coding synonymous_variant LOW 21G>A Leu7Leu
M0025837 JAIGNABE_00008 7352 21 Skin 0.09 protein_coding synonymous_variant LOW 42C>T Val14Val
M0025838 JAIGNABE_00008 7445 21 Skin 0.09 protein_coding synonymous_variant LOW 135C>T Thr45Thr
M0025839 JAIGNABE_00009 7544 34 Skin 0.14 protein_coding missense_variant MODERATE 52A>G Thr18Ala
M0025840 JAIGNABE_00009 7549 36 Skin 0.15 protein_coding synonymous_variant LOW 57C>T Ser19Ser
M0025841 JAIGNABE_00009 7554 42 Skin 0.18 protein_coding missense_variant MODERATE 62C>T Thr21Met
M0025842 JAIGNABE_00009 7561 14 Skin 0.06 protein_coding synonymous_variant LOW 69G>A Ser23Ser
M0025843 JAIGNABE_00009 7575 31 Skin 0.13 protein_coding missense_variant MODERATE 83T>C Leu28Pro
M0025844 JAIGNABE_00009 7576 23 Skin 0.10 protein_coding synonymous_variant LOW 84T>C Leu28Leu
M0025845 JAIGNABE_00009 7578 32 Skin 0.13 protein_coding missense_variant MODERATE 86C>T Ser29Phe
M0025846 JAIGNABE_00009 7615 47 Skin 0.20 protein_coding synonymous_variant LOW 123A>G Glu41Glu
M0025847 JAIGNABE_00009 7668 138 Skin 0.58 protein_coding missense_variant MODERATE 176T>C Val59Ala
M0025848 JAIGNABE_00009 7669 44 Skin 0.18 protein_coding synonymous_variant LOW 177C>T Val59Val
M0025849 JAIGNABE_00009 7704 40 Skin 0.17 protein_coding missense_variant MODERATE 212C>T Ala71Val
M0025850 JAIGNABE_00009 7705 31 Skin 0.13 protein_coding synonymous_variant LOW 213T>C Ala71Ala
M0025851 JAIGNABE_00009 7709 40 Skin 0.17 protein_coding missense_variant MODERATE 217A>G Ile73Val
M0025852 JAIGNABE_00009 7726 41 Skin 0.17 protein_coding synonymous_variant LOW 234C>T Val78Val
M0025853 JAIGNABE_00009 7760 55 Skin 0.23 protein_coding synonymous_variant LOW 268C>A Arg90Arg
M0025854 JAIGNABE_00009 7765 34 Skin 0.14 protein_coding synonymous_variant LOW 273C>T Ala91Ala
M0025855 JAIGNABE_00009 7768 34 Skin 0.14 protein_coding synonymous_variant LOW 276T>G Ala92Ala
M0025856 JAIGNABE_00009 7792 57 Skin 0.24 protein_coding synonymous_variant LOW 300C>T Gly100Gly
M0025857 JAIGNABE_00009 7801 34 Skin 0.14 protein_coding synonymous_variant LOW 309C>T Pro103Pro
M0025858 JAIGNABE_00009 7834 20 Skin 0.08 protein_coding synonymous_variant LOW 342C>T Cys114Cys
M0025859 JAIGNABE_00009 7846 27 Skin 0.11 protein_coding synonymous_variant LOW 354G>T Gly118Gly
M0025860 JAIGNABE_00009 7940 38 Skin 0.16 protein_coding missense_variant MODERATE 448T>C Phe150Leu
M0025861 JAIGNABE_00010 7993 35 Skin 0.15 protein_coding missense_variant MODERATE 10A>C Ile4Leu
M0025862 JAIGNABE_00010 8010 33 Skin 0.14 protein_coding synonymous_variant LOW 27A>G Gln9Gln
M0025863 JAIGNABE_00010 8163 53 Skin 0.22 protein_coding synonymous_variant LOW 180G>T Ala60Ala
M0025864 JAIGNABE_00010 8275 70 Skin 0.29 protein_coding missense_variant MODERATE 292A>G Thr98Ala
M0025865 JAIGNABE_00010 8330 105 Skin 0.44 protein_coding missense_variant MODERATE 347G>A Arg116His
M0025866 JAIGNABE_00010 8334 80 Skin 0.34 protein_coding synonymous_variant LOW 351T>C Ile117Ile
M0025867 JAIGNABE_00010 8337 80 Skin 0.34 protein_coding synonymous_variant LOW 354C>T Ala118Ala
M0025868 JAIGNABE_00010 8347 81 Skin 0.34 protein_coding missense_variant MODERATE 364T>C Phe122Leu
M0025869 JAIGNABE_00010 8364 101 Skin 0.42 protein_coding synonymous_variant LOW 381T>C Gly127Gly
M0025870 JAIGNABE_00010 8404 57 Skin 0.24 protein_coding missense_variant MODERATE 421T>G Ser141Ala
M0025871 JAIGNABE_00011 8529 96 Skin 0.40 protein_coding missense_variant MODERATE 34C>A Leu12Ile
M0025872 JAIGNABE_00011 8555 85 Skin 0.36 protein_coding synonymous_variant LOW 60A>G Gly20Gly
M0025873 JAIGNABE_00011 8591 108 Skin 0.45 protein_coding synonymous_variant LOW 96T>C Asp32Asp
M0025874 JAIGNABE_00011 8594 97 Skin 0.41 protein_coding synonymous_variant LOW 99G>A Gly33Gly
M0025875 JAIGNABE_00011 8612 83 Skin 0.35 protein_coding synonymous_variant LOW 117C>G Pro39Pro
M0025876 JAIGNABE_00011 8625 103 Skin 0.43 protein_coding missense_variant MODERATE 130G>A Gly44Ser
M0025877 JAIGNABE_00011 8664 85 Skin 0.36 protein_coding missense_variant MODERATE 169G>A Val57Ile
M0025878 JAIGNABE_00011 8723 67 Skin 0.28 protein_coding synonymous_variant LOW 228T>C Ala76Ala
M0025879 JAIGNABE_00011 9058 3 Skin 0.01 protein_coding missense_variant MODERATE 563C>T Pro188Leu
M0025880 JAIGNABE_00011 9242 70 Skin 0.29 protein_coding synonymous_variant LOW 747T>C His249His
M0025881 JAIGNABE_00011 9286 72 Skin 0.30 protein_coding missense_variant MODERATE 791T>C Ile264Thr
M0025882 JAIGNABE_00011 9424 22 Skin 0.09 protein_coding missense_variant MODERATE 929G>A Gly310Asp
M0025883 JAIGNABE_00003 2552 5 Skin 0.02 protein_coding missense_variant MODERATE 52A>T Thr18Ser
M0025884 JAIGNABE_00003 2596 5 Skin 0.02 protein_coding synonymous_variant LOW 96G>A Lys32Lys
M0025885 JAIGNABE_00003 2671 5 Skin 0.02 protein_coding synonymous_variant LOW 171C>T Ala57Ala
M0025886 JAIGNABE_00003 2677 5 Skin 0.02 protein_coding missense_variant MODERATE 177C>G Asp59Glu
M0025887 JAIGNABE_00003 2734 6 Skin 0.03 protein_coding synonymous_variant LOW 234G>A Ala78Ala
M0025888 JAIGNABE_00003 2800 7 Skin 0.03 protein_coding synonymous_variant LOW 300T>C Gly100Gly
M0025889 JAIGNABE_00004 3215 7 Skin 0.03 protein_coding missense_variant MODERATE 179G>A Arg60His
M0025890 JAIGNABE_00004 3532 9 Skin 0.04 protein_coding synonymous_variant LOW 496C>T Leu166Leu
M0025891 JAIGNABE_00004 3579 8 Skin 0.03 protein_coding synonymous_variant LOW 543G>A Thr181Thr
M0025892 JAIGNABE_00004 3586 8 Skin 0.03 protein_coding missense_variant MODERATE 550C>A Arg184Ser
M0025893 JAIGNABE_00004 3606 8 Skin 0.03 protein_coding synonymous_variant LOW 570A>G Gly190Gly
M0025894 JAIGNABE_00004 3609 8 Skin 0.03 protein_coding synonymous_variant LOW 573G>A Pro191Pro
M0025895 JAIGNABE_00004 3624 8 Skin 0.03 protein_coding synonymous_variant LOW 588G>A Gly196Gly
M0025896 JAIGNABE_00004 3627 8 Skin 0.03 protein_coding synonymous_variant LOW 591A>G Pro197Pro
M0025897 JAIGNABE_00004 3642 9 Skin 0.04 protein_coding synonymous_variant LOW 606A>G Lys202Lys
M0025898 JAIGNABE_00004 3669 8 Skin 0.03 protein_coding synonymous_variant LOW 633C>T Thr211Thr
M0025899 JAIGNABE_00004 3678 8 Skin 0.03 protein_coding synonymous_variant LOW 642C>T Asp214Asp
M0025900 JAIGNABE_00005 4122 11 Skin 0.05 protein_coding missense_variant MODERATE 238C>T Leu80Phe
M0025901 JAIGNABE_00005 4259 27 Skin 0.11 protein_coding synonymous_variant LOW 375C>T Ala125Ala
M0025902 JAIGNABE_00005 4312 16 Skin 0.07 protein_coding missense_variant MODERATE 428C>T Ala143Val
M0025903 JAIGNABE_00005 4535 53 Skin 0.22 protein_coding synonymous_variant LOW 651T>C Phe217Phe
M0025904 JAIGNABE_00005 4538 61 Skin 0.26 protein_coding synonymous_variant LOW 654G>A Gly218Gly
M0025905 JAIGNABE_00005 5027 50 Skin 0.21 protein_coding synonymous_variant LOW 1143G>A Ser381Ser
M0025906 JAIGNABE_00005 5141 5 Skin 0.02 protein_coding synonymous_variant LOW 1257C>T Val419Val
M0025907 JAIGNABE_00005 5156 30 Skin 0.13 protein_coding synonymous_variant LOW 1272A>G Arg424Arg
M0025908 JAIGNABE_00005 5163 20 Skin 0.08 protein_coding missense_variant MODERATE 1279G>A Val427Met
M0025909 JAIGNABE_00005 5165 20 Skin 0.08 protein_coding synonymous_variant LOW 1281G>C Val427Val
M0025910 JAIGNABE_00005 5168 20 Skin 0.08 protein_coding synonymous_variant LOW 1284G>C Arg428Arg
M0025911 JAIGNABE_00005 5186 6 Skin 0.03 protein_coding synonymous_variant LOW 1302A>G Glu434Glu
M0025912 JAIGNABE_00005 5189 6 Skin 0.03 protein_coding synonymous_variant LOW 1305C>T Ile435Ile
M0025913 JAIGNABE_00005 5195 6 Skin 0.03 protein_coding synonymous_variant LOW 1311A>G Gln437Gln
M0025914 JAIGNABE_00006 5609 16 Skin 0.07 protein_coding synonymous_variant LOW 271C>T Leu91Leu
M0025915 JAIGNABE_00006 5814 21 Skin 0.09 protein_coding missense_variant MODERATE 476A>T Gln159Leu
M0025916 JAIGNABE_00006 5866 71 Skin 0.30 protein_coding synonymous_variant LOW 528A>C Ala176Ala
M0025917 JAIGNABE_00006 6253 18 Skin 0.08 protein_coding synonymous_variant LOW 915T>C Gly305Gly
M0025918 JAIGNABE_00007 6428 16 Skin 0.07 protein_coding synonymous_variant LOW 114C>T Asp38Asp
M0025919 JAIGNABE_00007 6468 40 Skin 0.17 protein_coding missense_variant MODERATE 154G>A Ala52Thr
M0025920 JAIGNABE_00007 6731 139 Skin 0.58 protein_coding synonymous_variant LOW 417T>C Val139Val
M0025921 JAIGNABE_00007 6761 19 Skin 0.08 protein_coding synonymous_variant LOW 447G>T Val149Val
M0025922 JAIGNABE_00007 7001 16 Skin 0.07 protein_coding synonymous_variant LOW 687C>T Thr229Thr
M0025923 JAIGNABE_00008 7243 14 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -68G>C None
M0025924 JAIGNABE_00008 7297 15 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -14C>T None
M0025925 JAIGNABE_00010 8217 37 Skin 0.16 protein_coding synonymous_variant LOW 234G>A Gln78Gln
M0025926 JAIGNABE_00011 8651 17 Skin 0.07 protein_coding synonymous_variant LOW 156G>A Leu52Leu
M0025927 JAIGNABE_00011 8681 75 Skin 0.32 protein_coding synonymous_variant LOW 186A>G Ala62Ala
M0025928 JAIGNABE_00011 8748 15 Skin 0.06 protein_coding missense_variant MODERATE 253G>A Val85Ile
M0025929 JAIGNABE_00011 8810 15 Skin 0.06 protein_coding synonymous_variant LOW 315C>G Leu105Leu
M0025930 JAIGNABE_00011 8814 15 Skin 0.06 protein_coding missense_variant MODERATE 319A>G Ile107Val
M0025931 JAIGNABE_00011 9061 26 Skin 0.11 protein_coding missense_variant MODERATE 566G>A Gly189Asp
M0025932 JAIGNABE_00011 9095 23 Skin 0.10 protein_coding synonymous_variant LOW 600C>T Asp200Asp
M0025933 JAIGNABE_00011 9104 34 Skin 0.14 protein_coding synonymous_variant LOW 609C>T Ser203Ser
M0025934 JAIGNABE_00011 9188 17 Skin 0.07 protein_coding synonymous_variant LOW 693A>G Pro231Pro
M0025935 JAIGNABE_00011 9212 16 Skin 0.07 protein_coding synonymous_variant LOW 717C>G Pro239Pro
M0025936 JAIGNABE_00011 9214 25 Skin 0.11 protein_coding missense_variant MODERATE 719A>G Gln240Arg
M0025937 JAIGNABE_00011 9215 16 Skin 0.07 protein_coding missense_variant MODERATE 720A>C Gln240His
M0025938 JAIGNABE_00011 9236 13 Skin 0.05 protein_coding synonymous_variant LOW 741C>T Gly247Gly
M0025939 JAIGNABE_00011 9239 13 Skin 0.05 protein_coding synonymous_variant LOW 744C>G Thr248Thr
M0025940 JAIGNABE_00011 9240 13 Skin 0.05 protein_coding missense_variant MODERATE 745C>T His249Tyr
M0025941 JAIGNABE_00011 9243 13 Skin 0.05 protein_coding missense_variant MODERATE 748A>G Asn250Asp
M0025942 JAIGNABE_00011 9252 13 Skin 0.05 protein_coding missense_variant MODERATE 757A>G Thr253Ala
M0025943 JAIGNABE_00011 9254 13 Skin 0.05 protein_coding synonymous_variant LOW 759G>A Thr253Thr
M0025944 JAIGNABE_00011 9269 13 Skin 0.05 protein_coding synonymous_variant LOW 774A>T Thr258Thr
M0025945 JAIGNABE_00011 9281 14 Skin 0.06 protein_coding synonymous_variant LOW 786T>C Gly262Gly
M0025946 JAIGNABE_00011 9457 16 Skin 0.07 protein_coding missense_variant MODERATE 962C>T Thr321Ile
M0025947 JAIGNABE_00011 9514 15 Skin 0.06 protein_coding missense_variant MODERATE 1019C>A Thr340Lys
M0025948 JAIGNABE_00011 9528 56 Skin 0.24 protein_coding synonymous_variant LOW 1033A>C Arg345Arg
M0025949 JAIGNABE_00011 9548 43 Skin 0.18 protein_coding synonymous_variant LOW 1053A>G Lys351Lys
M0025950 JAIGNABE_00011 9551 15 Skin 0.06 protein_coding synonymous_variant LOW 1056T>C Leu352Leu
M0025951 JAIGNABE_00011 10161 20 Skin 0.08 protein_coding synonymous_variant LOW 1666C>T Leu556Leu
M0025952 JAIGNABE_00011 10302 19 Skin 0.08 protein_coding missense_variant MODERATE 1807A>G Thr603Ala
M0025953 JAIGNABE_00011 10337 23 Skin 0.10 protein_coding synonymous_variant LOW 1842G>A Gly614Gly
M0025954 JAIGNABE_00011 10338 23 Skin 0.10 protein_coding missense_variant MODERATE 1843T>C Ser615Pro
M0025955 JAIGNABE_00011 10339 23 Skin 0.10 protein_coding missense_variant MODERATE 1844C>T Ser615Phe
M0025956 JAIGNABE_00011 10427 6 Skin 0.03 protein_coding synonymous_variant LOW 1932G>A Gln644Gln
M0025957 JAIGNABE_00011 10467 17 Skin 0.07 protein_coding missense_variant MODERATE 1972A>G Thr658Ala
M0025958 JAIGNABE_00011 10661 6 Skin 0.03 protein_coding synonymous_variant LOW 2166T>C Ser722Ser
M0025959 JAIGNABE_00011 10667 34 Skin 0.14 protein_coding synonymous_variant LOW 2172A>G Glu724Glu
M0025960 JAIGNABE_00011 10817 33 Skin 0.14 protein_coding synonymous_variant LOW 2322C>T Val774Val
M0025961 JAIGNABE_00011 10823 45 Skin 0.19 protein_coding synonymous_variant LOW 2328T>C Gly776Gly
M0025962 JAIGNABE_00011 10829 45 Skin 0.19 protein_coding synonymous_variant LOW 2334C>T Asp778Asp
M0025963 JAIGNABE_00011 10834 18 Skin 0.08 protein_coding missense_variant MODERATE 2339C>T Pro780Leu
M0025964 JAIGNABE_00011 10862 35 Skin 0.15 protein_coding synonymous_variant LOW 2367T>C Gly789Gly
M0025965 JAIGNABE_00011 10883 34 Skin 0.14 protein_coding synonymous_variant LOW 2388G>A Arg796Arg
M0025966 JAIGNABE_00011 10889 46 Skin 0.19 protein_coding synonymous_variant LOW 2394T>C Ser798Ser
M0025967 JAIGNABE_00011 10942 29 Skin 0.12 protein_coding missense_variant MODERATE 2447C>T Thr816Ile
M0025968 JAIGNABE_00011 10992 5 Skin 0.02 protein_coding synonymous_variant LOW 2497C>T Leu833Leu
M0025969 JAIGNABE_00011 11024 10 Skin 0.04 protein_coding synonymous_variant LOW 2529T>C His843His
M0025970 JAIGNABE_00011 11039 5 Skin 0.02 protein_coding synonymous_variant LOW 2544G>A Ala848Ala
M0025971 JAIGNABE_00011 11042 10 Skin 0.04 protein_coding synonymous_variant LOW 2547G>A Ala849Ala
M0025972 JAIGNABE_00011 11500 5 Skin 0.02 protein_coding missense_variant MODERATE 3005A>G Asp1002Gly
M0025973 JAIGNABE_00011 11504 5 Skin 0.02 protein_coding synonymous_variant LOW 3009A>G Arg1003Arg
M0025974 JAIGNABE_00011 11510 10 Skin 0.04 protein_coding synonymous_variant LOW 3015T>G Pro1005Pro
M0025975 JAIGNABE_00011 11591 12 Skin 0.05 protein_coding synonymous_variant LOW 3096A>C Ala1032Ala
M0025976 JAIGNABE_00011 11630 12 Skin 0.05 protein_coding synonymous_variant LOW 3135T>C Asp1045Asp
M0025977 JAIGNABE_00011 11634 5 Skin 0.02 protein_coding missense_variant MODERATE 3139G>A Val1047Ile
M0025978 JAIGNABE_00011 11652 12 Skin 0.05 protein_coding missense_variant MODERATE 3157A>G Ile1053Val
M0025979 JAIGNABE_00011 11653 12 Skin 0.05 protein_coding missense_variant MODERATE 3158T>C Ile1053Thr
M0025980 JAIGNABE_00011 11672 5 Skin 0.02 protein_coding synonymous_variant LOW 3177C>T Arg1059Arg
M0025981 JAIGNABE_00011 11708 12 Skin 0.05 protein_coding synonymous_variant LOW 3213C>T His1071His
M0025982 JAIGNABE_00011 11720 41 Skin 0.17 protein_coding synonymous_variant LOW 3225C>T Arg1075Arg
M0025983 JAIGNABE_00011 11783 9 Skin 0.04 protein_coding synonymous_variant LOW 3288G>A Arg1096Arg
M0025984 JAIGNABE_00011 11784 9 Skin 0.04 protein_coding synonymous_variant LOW 3289T>C Leu1097Leu
M0025985 JAIGNABE_00011 11813 10 Skin 0.04 protein_coding synonymous_variant LOW 3318T>C Ser1106Ser
M0025986 JAIGNABE_00011 11831 12 Skin 0.05 protein_coding synonymous_variant LOW 3336T>C Ala1112Ala
M0025987 JAIGNABE_00011 11861 12 Skin 0.05 protein_coding synonymous_variant LOW 3366T>C Cys1122Cys
M0025988 JAIGNABE_00011 11879 5 Skin 0.02 protein_coding synonymous_variant LOW 3384C>T Asp1128Asp
M0025989 JAIGNABE_00011 11888 12 Skin 0.05 protein_coding synonymous_variant LOW 3393T>C His1131His
M0025990 JAIGNABE_00011 11918 5 Skin 0.02 protein_coding synonymous_variant LOW 3423C>T Ala1141Ala
M0025991 JAIGNABE_00011 11930 5 Skin 0.02 protein_coding synonymous_variant LOW 3435T>C Asp1145Asp
M0025992 JAIGNABE_00011 11945 12 Skin 0.05 protein_coding synonymous_variant LOW 3450A>G Gly1150Gly
M0025993 JAIGNABE_00011 12000 13 Skin 0.05 protein_coding synonymous_variant LOW 3505T>C Leu1169Leu
M0025994 JAIGNABE_00011 12014 13 Skin 0.05 protein_coding synonymous_variant LOW 3519A>G Glu1173Glu
M0025995 JAIGNABE_00011 12140 5 Skin 0.02 protein_coding synonymous_variant LOW 3645G>A Gln1215Gln
M0025996 JAIGNABE_00011 12150 12 Skin 0.05 protein_coding synonymous_variant LOW 3655C>T Leu1219Leu
M0025997 JAIGNABE_00011 12176 11 Skin 0.05 protein_coding synonymous_variant LOW 3681T>A Ala1227Ala
M0025998 JAIGNABE_00011 12263 11 Skin 0.05 protein_coding synonymous_variant LOW 3768C>T Asp1256Asp
M0025999 JAIGNABE_00011 12270 45 Skin 0.19 protein_coding missense_variant MODERATE 3775A>G Ile1259Val
M0026000 JAIGNABE_00011 12281 8 Skin 0.03 protein_coding synonymous_variant LOW 3786T>C Leu1262Leu
M0026001 JAIGNABE_00002 1651 3 Skin 0.01 protein_coding synonymous_variant LOW 201C>G Gly67Gly
M0026002 JAIGNABE_00002 1663 3 Skin 0.01 protein_coding synonymous_variant LOW 213C>T Asp71Asp
M0026003 JAIGNABE_00002 1675 3 Skin 0.01 protein_coding synonymous_variant LOW 225G>A Arg75Arg
M0026004 JAIGNABE_00002 1693 4 Skin 0.02 protein_coding synonymous_variant LOW 243G>A Ala81Ala
M0026005 JAIGNABE_00002 1702 11 Skin 0.05 protein_coding synonymous_variant LOW 252A>G Ala84Ala
M0026006 JAIGNABE_00002 1738 28 Skin 0.12 protein_coding synonymous_variant LOW 288T>C Arg96Arg
M0026007 JAIGNABE_00002 2089 33 Skin 0.14 protein_coding synonymous_variant LOW 639C>T Gly213Gly
M0026008 JAIGNABE_00003 2515 4 Skin 0.02 protein_coding synonymous_variant LOW 15A>G Gly5Gly
M0026009 JAIGNABE_00003 2516 4 Skin 0.02 protein_coding synonymous_variant LOW 16C>T Leu6Leu
M0026010 JAIGNABE_00003 2605 3 Skin 0.01 protein_coding synonymous_variant LOW 105G>A Thr35Thr
M0026011 JAIGNABE_00003 2836 5 Skin 0.02 protein_coding synonymous_variant LOW 336G>A Lys112Lys
M0026012 JAIGNABE_00003 2971 65 Skin 0.27 protein_coding synonymous_variant LOW 471G>A Glu157Glu
M0026013 JAIGNABE_00004 3123 11 Skin 0.05 protein_coding synonymous_variant LOW 87A>G Glu29Glu
M0026014 JAIGNABE_00004 3537 6 Skin 0.03 protein_coding synonymous_variant LOW 501C>T Ala167Ala
M0026015 JAIGNABE_00004 3543 7 Skin 0.03 protein_coding synonymous_variant LOW 507C>T His169His
M0026016 JAIGNABE_00004 3594 6 Skin 0.03 protein_coding synonymous_variant LOW 558G>A Leu186Leu
M0026017 JAIGNABE_00004 3595 6 Skin 0.03 protein_coding synonymous_variant LOW 559C>T Leu187Leu
M0026018 JAIGNABE_00004 3648 6 Skin 0.03 protein_coding synonymous_variant LOW 612C>T Phe204Phe
M0026019 JAIGNABE_00005 3959 8 Skin 0.03 protein_coding synonymous_variant LOW 75G>A Pro25Pro
M0026020 JAIGNABE_00005 4598 4 Skin 0.02 protein_coding synonymous_variant LOW 714C>T Asp238Asp
M0026021 JAIGNABE_00005 4601 4 Skin 0.02 protein_coding synonymous_variant LOW 717G>A Glu239Glu
M0026022 JAIGNABE_00005 4607 4 Skin 0.02 protein_coding synonymous_variant LOW 723C>T Ala241Ala
M0026023 JAIGNABE_00005 4638 4 Skin 0.02 protein_coding synonymous_variant LOW 754C>A Arg252Arg
M0026024 JAIGNABE_00005 4649 57 Skin 0.24 protein_coding synonymous_variant LOW 765A>G Arg255Arg
M0026025 JAIGNABE_00005 4652 4 Skin 0.02 protein_coding synonymous_variant LOW 768T>C Ala256Ala
M0026026 JAIGNABE_00005 4670 4 Skin 0.02 protein_coding synonymous_variant LOW 786G>A Lys262Lys
M0026027 JAIGNABE_00005 4688 4 Skin 0.02 protein_coding synonymous_variant LOW 804T>G Gly268Gly
M0026028 JAIGNABE_00005 4703 39 Skin 0.16 protein_coding synonymous_variant LOW 819T>A Gly273Gly
M0026029 JAIGNABE_00005 4721 5 Skin 0.02 protein_coding synonymous_variant LOW 837C>T Arg279Arg
M0026030 JAIGNABE_00005 4733 5 Skin 0.02 protein_coding synonymous_variant LOW 849T>C Asp283Asp
M0026031 JAIGNABE_00005 4781 5 Skin 0.02 protein_coding synonymous_variant LOW 897A>G Glu299Glu
M0026032 JAIGNABE_00005 4805 21 Skin 0.09 protein_coding synonymous_variant LOW 921A>G Gly307Gly
M0026033 JAIGNABE_00005 4847 40 Skin 0.17 protein_coding synonymous_variant LOW 963A>G Glu321Glu
M0026034 JAIGNABE_00005 4862 6 Skin 0.03 protein_coding synonymous_variant LOW 978A>G Arg326Arg
M0026035 JAIGNABE_00005 4871 36 Skin 0.15 protein_coding synonymous_variant LOW 987T>C Gly329Gly
M0026036 JAIGNABE_00005 4880 5 Skin 0.02 protein_coding synonymous_variant LOW 996T>C Ser332Ser
M0026037 JAIGNABE_00005 4895 7 Skin 0.03 protein_coding synonymous_variant LOW 1011T>C Ile337Ile
M0026038 JAIGNABE_00005 4916 32 Skin 0.13 protein_coding synonymous_variant LOW 1032T>C Asn344Asn
M0026039 JAIGNABE_00005 4917 5 Skin 0.02 protein_coding synonymous_variant LOW 1033T>C Leu345Leu
M0026040 JAIGNABE_00005 4919 5 Skin 0.02 protein_coding missense_variant MODERATE 1035G>C Leu345Phe
M0026041 JAIGNABE_00005 4931 5 Skin 0.02 protein_coding synonymous_variant LOW 1047C>T Ile349Ile
M0026042 JAIGNABE_00005 4934 32 Skin 0.13 protein_coding synonymous_variant LOW 1050G>C Val350Val
M0026043 JAIGNABE_00005 4937 5 Skin 0.02 protein_coding synonymous_variant LOW 1053T>C Gly351Gly
M0026044 JAIGNABE_00005 4949 5 Skin 0.02 protein_coding synonymous_variant LOW 1065C>G Gly355Gly
M0026045 JAIGNABE_00005 4952 37 Skin 0.16 protein_coding synonymous_variant LOW 1068T>C Ser356Ser
M0026046 JAIGNABE_00005 4958 13 Skin 0.05 protein_coding synonymous_variant LOW 1074T>C Ala358Ala
M0026047 JAIGNABE_00005 4976 5 Skin 0.02 protein_coding synonymous_variant LOW 1092C>A Ala364Ala
M0026048 JAIGNABE_00005 4994 5 Skin 0.02 protein_coding synonymous_variant LOW 1110G>C Gly370Gly
M0026049 JAIGNABE_00005 5105 5 Skin 0.02 protein_coding synonymous_variant LOW 1221C>T Ala407Ala
M0026050 JAIGNABE_00005 5111 5 Skin 0.02 protein_coding synonymous_variant LOW 1227C>T Asn409Asn
M0026051 JAIGNABE_00005 5120 5 Skin 0.02 protein_coding synonymous_variant LOW 1236C>T Phe412Phe
M0026052 JAIGNABE_00006 5485 8 Skin 0.03 protein_coding synonymous_variant LOW 147C>T Ile49Ile
M0026053 JAIGNABE_00006 5535 20 Skin 0.08 protein_coding missense_variant MODERATE 197C>T Ala66Val
M0026054 JAIGNABE_00006 5543 16 Skin 0.07 protein_coding synonymous_variant LOW 205C>T Leu69Leu
M0026055 JAIGNABE_00006 5590 16 Skin 0.07 protein_coding synonymous_variant LOW 252C>T Val84Val
M0026056 JAIGNABE_00006 5784 8 Skin 0.03 protein_coding missense_variant MODERATE 446A>G Asp149Gly
M0026057 JAIGNABE_00006 6172 56 Skin 0.24 protein_coding missense_variant MODERATE 834A>C Glu278Asp
M0026058 JAIGNABE_00006 6216 10 Skin 0.04 protein_coding missense_variant MODERATE 878C>T Thr293Met
M0026059 JAIGNABE_00006 6219 10 Skin 0.04 protein_coding missense_variant MODERATE 881C>T Ala294Val
M0026060 JAIGNABE_00006 6236 8 Skin 0.03 protein_coding missense_variant MODERATE 898C>A Pro300Thr
M0026061 JAIGNABE_00007 6548 10 Skin 0.04 protein_coding synonymous_variant LOW 234T>C Asn78Asn
M0026062 JAIGNABE_00008 7437 8 Skin 0.03 protein_coding missense_variant MODERATE 127A>G Ile43Val
M0026063 JAIGNABE_00008 7439 8 Skin 0.03 protein_coding missense_variant MODERATE 129C>G Ile43Met
M0026064 JAIGNABE_00009 7509 6 Skin 0.03 protein_coding missense_variant MODERATE 17T>C Val6Ala
M0026065 JAIGNABE_00009 7645 18 Skin 0.08 protein_coding synonymous_variant LOW 153T>C Gly51Gly
M0026066 JAIGNABE_00009 7717 9 Skin 0.04 protein_coding synonymous_variant LOW 225A>C Thr75Thr
M0026067 JAIGNABE_00009 7815 13 Skin 0.05 protein_coding missense_variant MODERATE 323G>A Arg108Gln
M0026068 JAIGNABE_00009 7948 24 Skin 0.10 protein_coding synonymous_variant LOW 456C>T Thr152Thr
M0026069 JAIGNABE_00009 7954 36 Skin 0.15 protein_coding synonymous_variant LOW 462T>A Arg154Arg
M0026070 JAIGNABE_00009 7957 10 Skin 0.04 protein_coding synonymous_variant LOW 465C>A Ala155Ala
M0026071 JAIGNABE_00010 8002 19 Skin 0.08 protein_coding missense_variant MODERATE 19T>C Ser7Pro
M0026072 JAIGNABE_00010 8044 10 Skin 0.04 protein_coding missense_variant MODERATE 61G>A Gly21Ser
M0026073 JAIGNABE_00010 8046 12 Skin 0.05 protein_coding synonymous_variant LOW 63C>T Gly21Gly
M0026074 JAIGNABE_00010 8047 12 Skin 0.05 protein_coding missense_variant MODERATE 64T>C Ser22Pro
M0026075 JAIGNABE_00010 8066 12 Skin 0.05 protein_coding missense_variant MODERATE 83T>C Val28Ala
M0026076 JAIGNABE_00010 8069 12 Skin 0.05 protein_coding missense_variant MODERATE 86C>G Pro29Arg
M0026077 JAIGNABE_00010 8083 13 Skin 0.05 protein_coding missense_variant MODERATE 100C>T Pro34Ser
M0026078 JAIGNABE_00010 8113 10 Skin 0.04 protein_coding missense_variant MODERATE 130G>A Val44Met
M0026079 JAIGNABE_00005 4951 24 Skin 0.10 protein_coding missense_variant MODERATE 1067C>G Ser356Cys
M0026080 JAIGNABE_00005 4988 28 Skin 0.12 protein_coding synonymous_variant LOW 1104T>C Gly368Gly
M0026081 JAIGNABE_00005 5043 26 Skin 0.11 protein_coding synonymous_variant LOW 1159T>C Leu387Leu
M0026082 JAIGNABE_00005 5051 25 Skin 0.11 protein_coding synonymous_variant LOW 1167T>C Ala389Ala
M0026083 JAIGNABE_00005 5063 27 Skin 0.11 protein_coding synonymous_variant LOW 1179A>G Gln393Gln
M0026084 JAIGNABE_00005 5096 23 Skin 0.10 protein_coding synonymous_variant LOW 1212C>T Arg404Arg
M0026085 JAIGNABE_00005 5333 14 Skin 0.06 protein_coding synonymous_variant LOW 1449G>A Gly483Gly
M0026086 JAIGNABE_00005 5334 14 Skin 0.06 protein_coding missense_variant MODERATE 1450G>A Val484Met
M0026087 JAIGNABE_00006 5348 14 Skin 0.06 protein_coding missense_variant MODERATE 10A>G Ile4Val
M0026088 JAIGNABE_00006 5393 16 Skin 0.07 protein_coding synonymous_variant LOW 55C>T Leu19Leu
M0026089 JAIGNABE_00006 5407 22 Skin 0.09 protein_coding synonymous_variant LOW 69G>A Gly23Gly
M0026090 JAIGNABE_00006 5410 22 Skin 0.09 protein_coding synonymous_variant LOW 72A>G Leu24Leu
M0026091 JAIGNABE_00006 5470 24 Skin 0.10 protein_coding synonymous_variant LOW 132G>A Lys44Lys
M0026092 JAIGNABE_00006 5639 28 Skin 0.12 protein_coding synonymous_variant LOW 301T>C Leu101Leu
M0026093 JAIGNABE_00006 5719 35 Skin 0.15 protein_coding synonymous_variant LOW 381T>C Arg127Arg
M0026094 JAIGNABE_00006 5725 35 Skin 0.15 protein_coding synonymous_variant LOW 387T>C Thr129Thr
M0026095 JAIGNABE_00006 5767 38 Skin 0.16 protein_coding synonymous_variant LOW 429T>C Ala143Ala
M0026096 JAIGNABE_00006 5768 19 Skin 0.08 protein_coding synonymous_variant LOW 430C>T Leu144Leu
M0026097 JAIGNABE_00006 5797 33 Skin 0.14 protein_coding synonymous_variant LOW 459T>C Ser153Ser
M0026098 JAIGNABE_00006 5807 22 Skin 0.09 protein_coding missense_variant MODERATE 469G>A Ala157Thr
M0026099 JAIGNABE_00006 5845 22 Skin 0.09 protein_coding synonymous_variant LOW 507C>T Asp169Asp
M0026100 JAIGNABE_00006 5860 21 Skin 0.09 protein_coding synonymous_variant LOW 522C>G Val174Val
M0026101 JAIGNABE_00006 5890 29 Skin 0.12 protein_coding synonymous_variant LOW 552T>C Gly184Gly
M0026102 JAIGNABE_00006 5942 26 Skin 0.11 protein_coding synonymous_variant LOW 604C>A Arg202Arg
M0026103 JAIGNABE_00006 6259 24 Skin 0.10 protein_coding synonymous_variant LOW 921C>T His307His
M0026104 JAIGNABE_00006 6260 27 Skin 0.11 protein_coding synonymous_variant LOW 922T>C Leu308Leu
M0026105 JAIGNABE_00006 6261 29 Skin 0.12 protein_coding missense_variant MODERATE 923T>C Leu308Ser
M0026106 JAIGNABE_00007 6337 11 Skin 0.05 protein_coding missense_variant MODERATE 23T>C Leu8Ser
M0026107 JAIGNABE_00007 6457 26 Skin 0.11 protein_coding missense_variant MODERATE 143T>C Val48Ala
M0026108 JAIGNABE_00007 6465 33 Skin 0.14 protein_coding missense_variant MODERATE 151T>C Ser51Pro
M0026109 JAIGNABE_00007 6471 20 Skin 0.08 protein_coding missense_variant MODERATE 157A>G Thr53Ala
M0026110 JAIGNABE_00007 6474 24 Skin 0.10 protein_coding missense_variant MODERATE 160G>C Ala54Pro
M0026111 JAIGNABE_00007 6534 40 Skin 0.17 protein_coding missense_variant MODERATE 220A>G Thr74Ala
M0026112 JAIGNABE_00007 6536 40 Skin 0.17 protein_coding synonymous_variant LOW 222A>G Thr74Thr
M0026113 JAIGNABE_00007 6656 12 Skin 0.05 protein_coding synonymous_variant LOW 342G>C Leu114Leu
M0026114 JAIGNABE_00007 6713 35 Skin 0.15 protein_coding synonymous_variant LOW 399T>C Gly133Gly
M0026115 JAIGNABE_00007 6776 37 Skin 0.16 protein_coding synonymous_variant LOW 462T>C Asp154Asp
M0026116 JAIGNABE_00007 6875 47 Skin 0.20 protein_coding synonymous_variant LOW 561T>C Ser187Ser
M0026117 JAIGNABE_00009 7932 5 Skin 0.02 protein_coding missense_variant MODERATE 440C>T Ala147Val
M0026118 JAIGNABE_00010 8149 4 Skin 0.02 protein_coding missense_variant MODERATE 166A>G Ile56Val
M0026119 JAIGNABE_00010 8349 3 Skin 0.01 protein_coding synonymous_variant LOW 366C>T Phe122Phe
M0026120 JAIGNABE_00003 2910 11 Skin 0.05 protein_coding missense_variant MODERATE 410T>C Val137Ala
M0026121 JAIGNABE_00005 4241 57 Skin 0.24 protein_coding synonymous_variant LOW 357A>G Glu119Glu
M0026122 JAIGNABE_00005 4517 64 Skin 0.27 protein_coding synonymous_variant LOW 633G>A Arg211Arg
M0026123 JAIGNABE_00005 4523 39 Skin 0.16 protein_coding synonymous_variant LOW 639C>T His213His
M0026124 JAIGNABE_00005 4547 34 Skin 0.14 protein_coding synonymous_variant LOW 663T>C His221His
M0026125 JAIGNABE_00005 4550 30 Skin 0.13 protein_coding synonymous_variant LOW 666T>A Arg222Arg
M0026126 JAIGNABE_00005 4568 34 Skin 0.14 protein_coding synonymous_variant LOW 684A>G Arg228Arg
M0026127 JAIGNABE_00006 5593 5 Skin 0.02 protein_coding synonymous_variant LOW 255C>T Val85Val
M0026128 JAIGNABE_00007 6833 13 Skin 0.05 protein_coding synonymous_variant LOW 519C>T Asn173Asn
M0026129 JAIGNABE_00009 7502 32 Skin 0.13 protein_coding missense_variant MODERATE 10C>T Leu4Phe
M0026130 JAIGNABE_00009 7506 33 Skin 0.14 protein_coding missense_variant MODERATE 14T>C Leu5Pro
M0026131 JAIGNABE_00009 7518 26 Skin 0.11 protein_coding missense_variant MODERATE 26C>T Ala9Val
M0026132 JAIGNABE_00009 7625 10 Skin 0.04 protein_coding missense_variant MODERATE 133A>G Thr45Ala
M0026133 JAIGNABE_00009 7701 6 Skin 0.03 protein_coding missense_variant MODERATE 209C>T Ala70Val
M0026134 JAIGNABE_00005 5245 4 Skin 0.02 protein_coding missense_variant MODERATE 1361G>T Arg454Leu
M0026135 JAIGNABE_00005 5251 3 Skin 0.01 protein_coding missense_variant MODERATE 1367C>A Ala456Asp
M0026136 JAIGNABE_00010 8422 7 Skin 0.03 protein_coding synonymous_variant LOW 439C>T Leu147Leu
M0026137 JAIGNABE_00011 8826 14 Skin 0.06 protein_coding missense_variant MODERATE 331G>A Ala111Thr
M0026138 JAIGNABE_00011 8839 14 Skin 0.06 protein_coding missense_variant MODERATE 344G>A Ser115Asn
M0026139 JAIGNABE_00011 8840 16 Skin 0.07 protein_coding synonymous_variant LOW 345T>C Ser115Ser
M0026140 JAIGNABE_00011 8841 16 Skin 0.07 protein_coding missense_variant MODERATE 346A>T Ser116Cys
M0026141 JAIGNABE_00011 8843 16 Skin 0.07 protein_coding synonymous_variant LOW 348T>C Ser116Ser
M0026142 JAIGNABE_00011 8857 8 Skin 0.03 protein_coding missense_variant MODERATE 362A>C Asn121Thr
M0026143 JAIGNABE_00011 8870 8 Skin 0.03 protein_coding synonymous_variant LOW 375A>G Ala125Ala
M0026144 JAIGNABE_00011 8883 8 Skin 0.03 protein_coding missense_variant MODERATE 388G>A Ala130Thr
M0026145 JAIGNABE_00011 8885 9 Skin 0.04 protein_coding synonymous_variant LOW 390T>C Ala130Ala
M0026146 JAIGNABE_00011 8896 8 Skin 0.03 protein_coding missense_variant MODERATE 401G>A Arg134Gln
M0026147 JAIGNABE_00011 8899 9 Skin 0.04 protein_coding missense_variant MODERATE 404G>A Gly135Asp
M0026148 JAIGNABE_00011 8918 8 Skin 0.03 protein_coding synonymous_variant LOW 423A>G Glu141Glu
M0026149 JAIGNABE_00011 8920 8 Skin 0.03 protein_coding missense_variant MODERATE 425A>G Asp142Gly
M0026150 JAIGNABE_00011 8921 8 Skin 0.03 protein_coding synonymous_variant LOW 426C>T Asp142Asp
M0026151 JAIGNABE_00011 8930 8 Skin 0.03 protein_coding synonymous_variant LOW 435G>A Gly145Gly
M0026152 JAIGNABE_00011 9059 25 Skin 0.11 protein_coding synonymous_variant LOW 564T>C Pro188Pro
M0026153 JAIGNABE_00011 9302 9 Skin 0.04 protein_coding synonymous_variant LOW 807G>T Thr269Thr
M0026154 JAIGNABE_00011 9303 9 Skin 0.04 protein_coding missense_variant MODERATE 808C>T Pro270Ser
M0026155 JAIGNABE_00011 9518 11 Skin 0.05 protein_coding synonymous_variant LOW 1023G>A Val341Val
M0026156 JAIGNABE_00011 9519 11 Skin 0.05 protein_coding missense_variant MODERATE 1024G>T Val342Leu
M0026157 JAIGNABE_00011 9651 14 Skin 0.06 protein_coding missense_variant MODERATE 1156A>C Ile386Leu
M0026158 JAIGNABE_00011 9776 44 Skin 0.18 protein_coding synonymous_variant LOW 1281G>A Gly427Gly
M0026159 JAIGNABE_00011 10511 6 Skin 0.03 protein_coding synonymous_variant LOW 2016A>G Glu672Glu
M0026160 JAIGNABE_00011 11891 3 Skin 0.01 protein_coding synonymous_variant LOW 3396C>T Leu1132Leu
M0026161 JAIGNABE_00012 12809 27 Skin 0.11 protein_coding synonymous_variant LOW 1173T>A Ala391Ala
M0026162 JAIGNABE_00012 12872 35 Skin 0.15 protein_coding synonymous_variant LOW 1110G>A Gly370Gly
M0026163 JAIGNABE_00012 12890 3 Skin 0.01 protein_coding synonymous_variant LOW 1092C>T Val364Val
M0026164 JAIGNABE_00012 12992 44 Skin 0.18 protein_coding synonymous_variant LOW 990A>G Gly330Gly
M0026165 JAIGNABE_00012 13023 3 Skin 0.01 protein_coding missense_variant MODERATE 959T>C Val320Ala
M0026166 JAIGNABE_00012 13046 37 Skin 0.16 protein_coding synonymous_variant LOW 936G>A Arg312Arg
M0026167 JAIGNABE_00012 13052 10 Skin 0.04 protein_coding synonymous_variant LOW 930T>C Gly310Gly
M0026168 JAIGNABE_00012 13061 9 Skin 0.04 protein_coding synonymous_variant LOW 921C>T His307His
M0026169 JAIGNABE_00012 13085 28 Skin 0.12 protein_coding synonymous_variant LOW 897G>A Ala299Ala
M0026170 JAIGNABE_00012 13118 44 Skin 0.18 protein_coding synonymous_variant LOW 864C>T Gly288Gly
M0026171 JAIGNABE_00012 13226 5 Skin 0.02 protein_coding synonymous_variant LOW 756G>A Gln252Gln
M0026172 JAIGNABE_00012 13268 9 Skin 0.04 protein_coding missense_variant MODERATE 714G>T Lys238Asn
M0026173 JAIGNABE_00012 13270 9 Skin 0.04 protein_coding missense_variant MODERATE 712A>C Lys238Gln
M0026174 JAIGNABE_00012 13286 10 Skin 0.04 protein_coding synonymous_variant LOW 696G>A Gly232Gly
M0026175 JAIGNABE_00012 13298 4 Skin 0.02 protein_coding synonymous_variant LOW 684G>C Ser228Ser
M0026176 JAIGNABE_00012 13319 8 Skin 0.03 protein_coding synonymous_variant LOW 663T>C Arg221Arg
M0026177 JAIGNABE_00012 13321 8 Skin 0.03 protein_coding missense_variant MODERATE 661C>A Arg221Ser
M0026178 JAIGNABE_00012 13336 12 Skin 0.05 protein_coding missense_variant MODERATE 646A>G Ile216Val
M0026179 JAIGNABE_00012 13338 12 Skin 0.05 protein_coding missense_variant MODERATE 644G>A Arg215His
M0026180 JAIGNABE_00012 13352 6 Skin 0.03 protein_coding synonymous_variant LOW 630G>A Glu210Glu
M0026181 JAIGNABE_00012 13379 10 Skin 0.04 protein_coding synonymous_variant LOW 603T>C Gly201Gly
M0026182 JAIGNABE_00012 13400 10 Skin 0.04 protein_coding synonymous_variant LOW 582G>A Thr194Thr
M0026183 JAIGNABE_00012 13433 8 Skin 0.03 protein_coding synonymous_variant LOW 549T>C His183His
M0026184 JAIGNABE_00012 13451 5 Skin 0.02 protein_coding synonymous_variant LOW 531A>C Arg177Arg
M0026185 JAIGNABE_00012 13457 5 Skin 0.02 protein_coding synonymous_variant LOW 525C>A Ala175Ala
M0026186 JAIGNABE_00012 13465 5 Skin 0.02 protein_coding missense_variant MODERATE 517C>A Leu173Met
M0026187 JAIGNABE_00012 13490 3 Skin 0.01 protein_coding synonymous_variant LOW 492T>G Gly164Gly
M0026188 JAIGNABE_00012 13495 35 Skin 0.15 protein_coding synonymous_variant LOW 487T>C Leu163Leu
M0026189 JAIGNABE_00012 13535 17 Skin 0.07 protein_coding synonymous_variant LOW 447C>A Ala149Ala
M0026190 JAIGNABE_00012 13544 3 Skin 0.01 protein_coding synonymous_variant LOW 438T>C Tyr146Tyr
M0026191 JAIGNABE_00012 13559 3 Skin 0.01 protein_coding synonymous_variant LOW 423T>C Ile141Ile
M0026192 JAIGNABE_00012 13580 21 Skin 0.09 protein_coding synonymous_variant LOW 402T>C Thr134Thr
M0026193 JAIGNABE_00012 13715 4 Skin 0.02 protein_coding synonymous_variant LOW 267T>C Gly89Gly
M0026194 JAIGNABE_00012 13721 16 Skin 0.07 protein_coding synonymous_variant LOW 261G>C Thr87Thr
M0026195 JAIGNABE_00012 13724 16 Skin 0.07 protein_coding synonymous_variant LOW 258A>T Gly86Gly
M0026196 JAIGNABE_00012 13742 3 Skin 0.01 protein_coding synonymous_variant LOW 240G>T Arg80Arg
M0026197 JAIGNABE_00012 13765 25 Skin 0.11 protein_coding synonymous_variant LOW 217T>C Leu73Leu
M0026198 JAIGNABE_00012 13889 41 Skin 0.17 protein_coding synonymous_variant LOW 93T>C Thr31Thr
M0026199 JAIGNABE_00012 14049 32 Skin 0.13 protein_coding upstream_gene_variant MODIFIER -68A>G None
M0026200 JAIGNABE_00012 14063 10 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -82A>G None
M0026201 JAIGNABE_00012 14082 11 Skin 0.05 protein_coding upstream_gene_variant MODIFIER -101G>A None
M0026202 JAIGNABE_00012 14140 5 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -159T>C None
M0026203 JAIGNABE_00012 14142 5 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -161G>A None
M0026204 JAIGNABE_00013 14157 8 Skin 0.03 protein_coding missense_variant MODERATE 10C>T Arg4Cys
M0026205 JAIGNABE_00013 14159 4 Skin 0.02 protein_coding synonymous_variant LOW 12C>T Arg4Arg
M0026206 JAIGNABE_00013 14167 11 Skin 0.05 protein_coding missense_variant MODERATE 20G>A Ser7Asn
M0026207 JAIGNABE_00013 14173 5 Skin 0.02 protein_coding missense_variant MODERATE 26C>A Pro9Gln
M0026208 JAIGNABE_00013 14180 14 Skin 0.06 protein_coding synonymous_variant LOW 33A>G Arg11Arg
M0026209 JAIGNABE_00013 14186 10 Skin 0.04 protein_coding synonymous_variant LOW 39C>A Ser13Ser
M0026210 JAIGNABE_00013 14188 5 Skin 0.02 protein_coding missense_variant MODERATE 41A>G Asp14Gly
M0026211 JAIGNABE_00013 14290 3 Skin 0.01 protein_coding missense_variant MODERATE 143G>T Gly48Val
M0026212 JAIGNABE_00012 14400 22 Skin 0.09 protein_coding upstream_gene_variant MODIFIER -419C>T None
M0026213 JAIGNABE_00012 14411 26 Skin 0.11 protein_coding upstream_gene_variant MODIFIER -430T>C None
M0026214 JAIGNABE_00012 14427 26 Skin 0.11 protein_coding upstream_gene_variant MODIFIER -446G>C None
M0026215 JAIGNABE_00012 14430 26 Skin 0.11 protein_coding upstream_gene_variant MODIFIER -449G>C None
M0026216 JAIGNABE_00012 14445 26 Skin 0.11 protein_coding upstream_gene_variant MODIFIER -464A>G None
M0026217 JAIGNABE_00012 14450 26 Skin 0.11 protein_coding upstream_gene_variant MODIFIER -469A>G None
M0026218 JAIGNABE_00012 14453 26 Skin 0.11 protein_coding upstream_gene_variant MODIFIER -472A>G None
M0026219 JAIGNABE_00012 14474 9 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -493C>T None
M0026220 JAIGNABE_00014 14536 37 Skin 0.16 protein_coding missense_variant MODERATE 62C>A Thr21Asn
M0026221 JAIGNABE_00014 14570 30 Skin 0.13 protein_coding synonymous_variant LOW 96C>T His32His
M0026222 JAIGNABE_00014 14606 37 Skin 0.16 protein_coding synonymous_variant LOW 132T>C Ile44Ile
M0026223 JAIGNABE_00014 14657 31 Skin 0.13 protein_coding synonymous_variant LOW 183A>C Ala61Ala
M0026224 JAIGNABE_00014 14733 32 Skin 0.13 protein_coding synonymous_variant LOW 259A>C Arg87Arg
M0026225 JAIGNABE_00014 14771 22 Skin 0.09 protein_coding synonymous_variant LOW 297G>A Gly99Gly
M0026226 JAIGNABE_00014 14810 24 Skin 0.10 protein_coding synonymous_variant LOW 336G>A Gly112Gly
M0026227 JAIGNABE_00014 14825 24 Skin 0.10 protein_coding synonymous_variant LOW 351T>C Leu117Leu
M0026228 JAIGNABE_00014 14855 25 Skin 0.11 protein_coding synonymous_variant LOW 381T>A Thr127Thr
M0026229 JAIGNABE_00014 14861 36 Skin 0.15 protein_coding synonymous_variant LOW 387T>C Asp129Asp
M0026230 JAIGNABE_00014 14879 31 Skin 0.13 protein_coding synonymous_variant LOW 405T>C Ala135Ala
M0026231 JAIGNABE_00014 15047 27 Skin 0.11 protein_coding synonymous_variant LOW 573A>G Gln191Gln
M0026232 JAIGNABE_00014 15168 36 Skin 0.15 protein_coding missense_variant MODERATE 694T>C Ser232Pro
M0026233 JAIGNABE_00014 15331 23 Skin 0.10 protein_coding missense_variant MODERATE 857G>A Arg286Gln
M0026234 JAIGNABE_00014 15392 21 Skin 0.09 protein_coding synonymous_variant LOW 918G>A Gly306Gly
M0026235 JAIGNABE_00014 15398 21 Skin 0.09 protein_coding synonymous_variant LOW 924G>A Glu308Glu
M0026236 JAIGNABE_00014 15431 12 Skin 0.05 protein_coding synonymous_variant LOW 957T>C Gly319Gly
M0026237 JAIGNABE_00003 2207 17 Skin 0.07 protein_coding upstream_gene_variant MODIFIER -294T>C None
M0026238 JAIGNABE_00003 2381 18 Skin 0.08 protein_coding upstream_gene_variant MODIFIER -120A>G None
M0026239 JAIGNABE_00004 3211 17 Skin 0.07 protein_coding missense_variant MODERATE 175T>C Ser59Pro
M0026240 JAIGNABE_00005 5174 15 Skin 0.06 protein_coding synonymous_variant LOW 1290G>A Arg430Arg
M0026241 JAIGNABE_00010 8407 11 Skin 0.05 protein_coding synonymous_variant LOW 424C>T Leu142Leu
M0026242 JAIGNABE_00010 8449 16 Skin 0.07 protein_coding missense_variant MODERATE 466A>G Asn156Asp
M0026243 JAIGNABE_00006 6272 37 Skin 0.16 protein_coding missense_variant MODERATE 934G>A Val312Ile
M0026244 JAIGNABE_00007 6617 19 Skin 0.08 protein_coding synonymous_variant LOW 303C>T Ala101Ala
M0026245 JAIGNABE_00007 6806 36 Skin 0.15 protein_coding synonymous_variant LOW 492T>C Asp164Asp
M0026246 JAIGNABE_00007 6815 25 Skin 0.11 protein_coding synonymous_variant LOW 501T>C Thr167Thr
M0026247 JAIGNABE_00007 6848 7 Skin 0.03 protein_coding synonymous_variant LOW 534G>A Lys178Lys
M0026248 JAIGNABE_00007 6878 7 Skin 0.03 protein_coding synonymous_variant LOW 564C>T Asp188Asp
M0026249 JAIGNABE_00007 6950 5 Skin 0.02 protein_coding synonymous_variant LOW 636G>A Gly212Gly
M0026250 JAIGNABE_00007 6968 32 Skin 0.13 protein_coding synonymous_variant LOW 654G>A Gly218Gly
M0026251 JAIGNABE_00007 7008 14 Skin 0.06 protein_coding synonymous_variant LOW 694T>C Leu232Leu
M0026252 JAIGNABE_00011 8762 15 Skin 0.06 protein_coding synonymous_variant LOW 267A>G Gly89Gly
M0026253 JAIGNABE_00011 8780 19 Skin 0.08 protein_coding synonymous_variant LOW 285A>G Gly95Gly
M0026254 JAIGNABE_00006 5632 37 Skin 0.16 protein_coding synonymous_variant LOW 294C>T Asp98Asp
M0026255 JAIGNABE_00007 6710 23 Skin 0.10 protein_coding synonymous_variant LOW 396C>T Ala132Ala
M0026256 JAIGNABE_00001 219 22 Skin 0.09 protein_coding upstream_gene_variant MODIFIER -444A>G None
M0026257 JAIGNABE_00001 227 22 Skin 0.09 protein_coding upstream_gene_variant MODIFIER -436A>G None
M0026258 JAIGNABE_00001 287 20 Skin 0.08 protein_coding upstream_gene_variant MODIFIER -376C>T None
M0026259 JAIGNABE_00001 560 40 Skin 0.17 protein_coding upstream_gene_variant MODIFIER -103A>G None
M0026260 JAIGNABE_00001 575 39 Skin 0.16 protein_coding upstream_gene_variant MODIFIER -88A>G None
M0026261 JAIGNABE_00001 646 23 Skin 0.10 protein_coding upstream_gene_variant MODIFIER -17C>T None
M0026262 JAIGNABE_00001 647 23 Skin 0.10 protein_coding upstream_gene_variant MODIFIER -16A>G None
M0026263 JAIGNABE_00001 668 23 Skin 0.10 protein_coding synonymous_variant LOW 6T>C Pro2Pro
M0026264 JAIGNABE_00001 929 25 Skin 0.11 protein_coding synonymous_variant LOW 267A>G Leu89Leu
M0026265 JAIGNABE_00002 1113 24 Skin 0.10 protein_coding upstream_gene_variant MODIFIER -338G>A None
M0026266 JAIGNABE_00002 1259 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -192T>C None
M0026267 JAIGNABE_00002 1284 25 Skin 0.11 protein_coding upstream_gene_variant MODIFIER -167A>T None
M0026268 JAIGNABE_00002 1295 6 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -156G>A None
M0026269 JAIGNABE_00002 1341 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -110C>G None
M0026270 JAIGNABE_00002 1342 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -109G>A None
M0026271 JAIGNABE_00002 1344 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -107A>G None
M0026272 JAIGNABE_00002 1497 5 Skin 0.02 protein_coding missense_variant MODERATE 47C>T Ala16Val
M0026273 JAIGNABE_00002 1553 29 Skin 0.12 protein_coding missense_variant MODERATE 103C>T Pro35Ser
M0026274 JAIGNABE_00002 1657 5 Skin 0.02 protein_coding synonymous_variant LOW 207C>T Phe69Phe
M0026275 JAIGNABE_00003 2175 25 Skin 0.11 protein_coding upstream_gene_variant MODIFIER -326T>C None
M0026276 JAIGNABE_00003 2261 26 Skin 0.11 protein_coding upstream_gene_variant MODIFIER -240G>A None
M0026277 JAIGNABE_00003 2263 26 Skin 0.11 protein_coding upstream_gene_variant MODIFIER -238A>C None
M0026278 JAIGNABE_00003 2307 25 Skin 0.11 protein_coding upstream_gene_variant MODIFIER -194A>G None
M0026279 JAIGNABE_00003 2334 30 Skin 0.13 protein_coding upstream_gene_variant MODIFIER -167T>C None
M0026280 JAIGNABE_00003 2405 20 Skin 0.08 protein_coding upstream_gene_variant MODIFIER -96G>A None
M0026281 JAIGNABE_00003 2408 20 Skin 0.08 protein_coding upstream_gene_variant MODIFIER -93A>G None
M0026282 JAIGNABE_00003 2411 25 Skin 0.11 protein_coding upstream_gene_variant MODIFIER -90C>T None
M0026283 JAIGNABE_00003 2420 20 Skin 0.08 protein_coding upstream_gene_variant MODIFIER -81A>G None
M0026284 JAIGNABE_00003 2430 19 Skin 0.08 protein_coding upstream_gene_variant MODIFIER -71C>A None
M0026285 JAIGNABE_00003 2567 6 Skin 0.03 protein_coding missense_variant MODERATE 67G>A Val23Ile
M0026286 JAIGNABE_00004 3345 7 Skin 0.03 protein_coding synonymous_variant LOW 309G>A Gly103Gly
M0026287 JAIGNABE_00004 3438 11 Skin 0.05 protein_coding synonymous_variant LOW 402G>A Gly134Gly
M0026288 JAIGNABE_00004 3451 11 Skin 0.05 protein_coding missense_variant MODERATE 415G>A Ala139Thr
M0026289 JAIGNABE_00004 3453 11 Skin 0.05 protein_coding synonymous_variant LOW 417C>T Ala139Ala
M0026290 JAIGNABE_00004 3502 9 Skin 0.04 protein_coding missense_variant MODERATE 466A>G Thr156Ala
M0026291 JAIGNABE_00007 6351 6 Skin 0.03 protein_coding missense_variant MODERATE 37T>G Ser13Ala
M0026292 JAIGNABE_00007 6371 6 Skin 0.03 protein_coding synonymous_variant LOW 57A>G Pro19Pro
M0026293 JAIGNABE_00007 6392 5 Skin 0.02 protein_coding synonymous_variant LOW 78A>G Thr26Thr
M0026294 JAIGNABE_00007 6395 5 Skin 0.02 protein_coding synonymous_variant LOW 81C>T Arg27Arg
M0026295 JAIGNABE_00007 6401 9 Skin 0.04 protein_coding synonymous_variant LOW 87C>T Val29Val
M0026296 JAIGNABE_00007 6422 5 Skin 0.02 protein_coding synonymous_variant LOW 108C>A Ala36Ala
M0026297 JAIGNABE_00007 6559 3 Skin 0.01 protein_coding missense_variant MODERATE 245C>T Thr82Ile
M0026298 JAIGNABE_00007 6608 4 Skin 0.02 protein_coding synonymous_variant LOW 294C>T Cys98Cys
M0026299 JAIGNABE_00007 6735 3 Skin 0.01 protein_coding synonymous_variant LOW 421C>T Leu141Leu
M0026300 JAIGNABE_00007 6752 4 Skin 0.02 protein_coding synonymous_variant LOW 438G>T Ser146Ser
M0026301 JAIGNABE_00007 6779 4 Skin 0.02 protein_coding synonymous_variant LOW 465C>A Ala155Ala
M0026302 JAIGNABE_00007 6816 4 Skin 0.02 protein_coding synonymous_variant LOW 502C>T Leu168Leu
M0026303 JAIGNABE_00007 6868 12 Skin 0.05 protein_coding missense_variant MODERATE 554G>A Gly185Asp
M0026304 JAIGNABE_00007 7031 21 Skin 0.09 protein_coding synonymous_variant LOW 717T>C Ala239Ala
M0026305 JAIGNABE_00007 7086 3 Skin 0.01 protein_coding missense_variant MODERATE 772A>G Thr258Ala
M0026306 JAIGNABE_00008 7221 35 Skin 0.15 protein_coding upstream_gene_variant MODIFIER -90C>T None
M0026307 JAIGNABE_00009 7583 10 Skin 0.04 protein_coding missense_variant MODERATE 91G>A Ala31Thr
M0026308 JAIGNABE_00010 8282 4 Skin 0.02 protein_coding missense_variant MODERATE 299C>T Ala100Val
M0026309 JAIGNABE_00006 6196 13 Skin 0.05 protein_coding synonymous_variant LOW 858C>T Ala286Ala
M0026310 JAIGNABE_00011 9775 6 Skin 0.03 protein_coding missense_variant MODERATE 1280G>A Gly427Glu
M0026311 JAIGNABE_00002 1523 6 Skin 0.03 protein_coding missense_variant MODERATE 73G>A Gly25Ser
M0026312 JAIGNABE_00005 5231 33 Skin 0.14 protein_coding synonymous_variant LOW 1347G>A Thr449Thr
M0026313 JAIGNABE_00006 5379 6 Skin 0.03 protein_coding missense_variant MODERATE 41C>T Thr14Ile
M0026314 JAIGNABE_00009 7558 9 Skin 0.04 protein_coding synonymous_variant LOW 66C>T Asn22Asn
M0026315 JAIGNABE_00007 6443 10 Skin 0.04 protein_coding synonymous_variant LOW 129C>T Pro43Pro
M0026316 JAIGNABE_00007 6444 10 Skin 0.04 protein_coding missense_variant MODERATE 130G>C Gly44Arg
M0026317 JAIGNABE_00007 6445 10 Skin 0.04 protein_coding missense_variant MODERATE 131G>C Gly44Ala
M0026318 JAIGNABE_00007 6449 13 Skin 0.05 protein_coding synonymous_variant LOW 135A>G Ala45Ala
M0026319 JAIGNABE_00007 6452 4 Skin 0.02 protein_coding synonymous_variant LOW 138A>G Ala46Ala
M0026320 JAIGNABE_00007 6473 4 Skin 0.02 protein_coding synonymous_variant LOW 159T>C Thr53Thr
M0026321 JAIGNABE_00007 6504 4 Skin 0.02 protein_coding missense_variant MODERATE 190A>G Met64Val
M0026322 JAIGNABE_00007 6582 4 Skin 0.02 protein_coding synonymous_variant LOW 268C>T Leu90Leu
M0026323 JAIGNABE_00007 6611 4 Skin 0.02 protein_coding synonymous_variant LOW 297G>C Val99Val
M0026324 JAIGNABE_00010 8088 3 Skin 0.01 protein_coding synonymous_variant LOW 105T>G Arg35Arg
M0026325 JAIGNABE_00010 8089 3 Skin 0.01 protein_coding missense_variant MODERATE 106C>A His36Asn
M0026326 JAIGNABE_00011 10736 12 Skin 0.05 protein_coding synonymous_variant LOW 2241G>A Ala747Ala
M0026327 JAIGNABE_00011 10805 25 Skin 0.11 protein_coding synonymous_variant LOW 2310T>C Gly770Gly
M0026328 JAIGNABE_00001 350 9 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -313T>G None
M0026329 JAIGNABE_00001 355 9 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -308C>T None
M0026330 JAIGNABE_00001 365 5 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -298G>A None
M0026331 JAIGNABE_00001 367 9 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -296A>C None
M0026332 JAIGNABE_00001 369 9 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -294T>C None
M0026333 JAIGNABE_00001 430 15 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -233C>T None
M0026334 JAIGNABE_00002 1317 16 Skin 0.07 protein_coding upstream_gene_variant MODIFIER -134G>T None
M0026335 JAIGNABE_00004 3738 4 Skin 0.02 protein_coding synonymous_variant LOW 702C>T Ser234Ser
M0026336 JAIGNABE_00005 4030 5 Skin 0.02 protein_coding missense_variant MODERATE 146C>G Pro49Arg
M0026337 JAIGNABE_00005 4209 7 Skin 0.03 protein_coding missense_variant MODERATE 325G>A Asp109Asn
M0026338 JAIGNABE_00011 8980 4 Skin 0.02 protein_coding missense_variant MODERATE 485A>G Asn162Ser
M0026339 JAIGNABE_00011 10763 3 Skin 0.01 protein_coding synonymous_variant LOW 2268C>T Leu756Leu
M0026340 JAIGNABE_00011 11067 3 Skin 0.01 protein_coding missense_variant MODERATE 2572G>A Ala858Thr
M0026341 JAIGNABE_00011 11132 23 Skin 0.10 protein_coding missense_variant MODERATE 2637C>A His879Gln
M0026342 JAIGNABE_00011 11135 23 Skin 0.10 protein_coding synonymous_variant LOW 2640C>T Leu880Leu
M0026343 JAIGNABE_00011 11138 23 Skin 0.10 protein_coding synonymous_variant LOW 2643A>T Gly881Gly
M0026344 JAIGNABE_00011 11177 10 Skin 0.04 protein_coding synonymous_variant LOW 2682A>T Arg894Arg
M0026345 JAIGNABE_00011 11180 10 Skin 0.04 protein_coding synonymous_variant LOW 2685T>A Ala895Ala
M0026346 JAIGNABE_00011 11183 10 Skin 0.04 protein_coding synonymous_variant LOW 2688A>G Gly896Gly
M0026347 JAIGNABE_00011 11190 21 Skin 0.09 protein_coding missense_variant MODERATE 2695A>C Ser899Arg
M0026348 JAIGNABE_00011 11200 8 Skin 0.03 protein_coding missense_variant MODERATE 2705C>T Ala902Val
M0026349 JAIGNABE_00011 11204 21 Skin 0.09 protein_coding synonymous_variant LOW 2709A>G Ala903Ala
M0026350 JAIGNABE_00011 11209 4 Skin 0.02 protein_coding missense_variant MODERATE 2714G>A Arg905Gln
M0026351 JAIGNABE_00011 11213 12 Skin 0.05 protein_coding synonymous_variant LOW 2718T>C Ala906Ala
M0026352 JAIGNABE_00011 11220 8 Skin 0.03 protein_coding missense_variant MODERATE 2725A>G Ser909Gly
M0026353 JAIGNABE_00011 11226 7 Skin 0.03 protein_coding missense_variant MODERATE 2731A>G Ser911Gly
M0026354 JAIGNABE_00011 11232 7 Skin 0.03 protein_coding missense_variant MODERATE 2737C>A Leu913Ile
M0026355 JAIGNABE_00011 11234 11 Skin 0.05 protein_coding synonymous_variant LOW 2739T>C Leu913Leu
M0026356 JAIGNABE_00011 11312 34 Skin 0.14 protein_coding synonymous_variant LOW 2817C>G Val939Val
M0026357 JAIGNABE_00011 11380 40 Skin 0.17 protein_coding missense_variant MODERATE 2885T>C Leu962Pro
M0026358 JAIGNABE_00011 11636 17 Skin 0.07 protein_coding synonymous_variant LOW 3141C>A Val1047Val
M0026359 JAIGNABE_00011 11906 9 Skin 0.04 protein_coding synonymous_variant LOW 3411C>T Thr1137Thr
M0026360 JAIGNABE_00004 3853 5 Skin 0.02 protein_coding missense_variant MODERATE 817G>A Val273Ile
M0026361 JAIGNABE_00005 4022 5 Skin 0.02 protein_coding synonymous_variant LOW 138C>T Phe46Phe
M0026362 JAIGNABE_00005 4142 3 Skin 0.01 protein_coding synonymous_variant LOW 258C>T Asp86Asp
M0026363 JAIGNABE_00005 4593 16 Skin 0.07 protein_coding synonymous_variant LOW 709C>T Leu237Leu
M0026364 JAIGNABE_00005 4634 23 Skin 0.10 protein_coding synonymous_variant LOW 750T>C Val250Val
M0026365 JAIGNABE_00005 4644 19 Skin 0.08 protein_coding synonymous_variant LOW 760C>T Leu254Leu
M0026366 JAIGNABE_00005 4658 32 Skin 0.13 protein_coding synonymous_variant LOW 774G>A Val258Val
M0026367 JAIGNABE_00005 4694 11 Skin 0.05 protein_coding synonymous_variant LOW 810G>A Gln270Gln
M0026368 JAIGNABE_00005 4697 19 Skin 0.08 protein_coding synonymous_variant LOW 813A>G Gly271Gly
M0026369 JAIGNABE_00005 4700 19 Skin 0.08 protein_coding synonymous_variant LOW 816C>T Ala272Ala
M0026370 JAIGNABE_00006 5680 3 Skin 0.01 protein_coding synonymous_variant LOW 342C>T Gly114Gly
M0026371 JAIGNABE_00006 5755 3 Skin 0.01 protein_coding synonymous_variant LOW 417T>C Asp139Asp
M0026372 JAIGNABE_00006 6058 3 Skin 0.01 protein_coding synonymous_variant LOW 720G>A Arg240Arg
M0026373 JAIGNABE_00007 7121 11 Skin 0.05 protein_coding synonymous_variant LOW 807G>A Glu269Glu
M0026374 JAIGNABE_00007 7157 24 Skin 0.10 protein_coding synonymous_variant LOW 843C>T Val281Val
M0026375 JAIGNABE_00008 7469 23 Skin 0.10 protein_coding synonymous_variant LOW 159T>G Gly53Gly
M0026376 JAIGNABE_00008 7484 20 Skin 0.08 protein_coding synonymous_variant LOW 174C>T His58His
M0026377 JAIGNABE_00009 7505 17 Skin 0.07 protein_coding synonymous_variant LOW 13C>T Leu5Leu
M0026378 JAIGNABE_00009 7807 21 Skin 0.09 protein_coding synonymous_variant LOW 315C>T Asp105Asp
M0026379 JAIGNABE_00001 145 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -518C>T None
M0026380 JAIGNABE_00001 419 19 Skin 0.08 protein_coding upstream_gene_variant MODIFIER -244A>G None
M0026381 JAIGNABE_00002 1127 20 Skin 0.08 protein_coding upstream_gene_variant MODIFIER -324A>G None
M0026382 JAIGNABE_00002 1975 3 Skin 0.01 protein_coding synonymous_variant LOW 525C>T Leu175Leu
M0026383 JAIGNABE_00003 2294 18 Skin 0.08 protein_coding upstream_gene_variant MODIFIER -207C>T None
M0026384 JAIGNABE_00005 4085 3 Skin 0.01 protein_coding synonymous_variant LOW 201C>T Ile67Ile
M0026385 JAIGNABE_00007 6935 3 Skin 0.01 protein_coding synonymous_variant LOW 621A>G Lys207Lys
M0026386 JAIGNABE_00007 7166 3 Skin 0.01 protein_coding synonymous_variant LOW 852G>A Leu284Leu
M0026387 JAIGNABE_00003 2656 7 Skin 0.03 protein_coding synonymous_variant LOW 156G>A Arg52Arg
M0026388 JAIGNABE_00003 2659 7 Skin 0.03 protein_coding synonymous_variant LOW 159T>C Leu53Leu
M0026389 JAIGNABE_00007 6740 5 Skin 0.02 protein_coding synonymous_variant LOW 426G>A Leu142Leu
M0026390 JAIGNABE_00003 2477 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -24C>T None
M0026391 JAIGNABE_00004 3330 5 Skin 0.02 protein_coding synonymous_variant LOW 294C>A Gly98Gly
M0026392 JAIGNABE_00003 2728 7 Skin 0.03 protein_coding synonymous_variant LOW 228C>T Val76Val
M0026393 JAIGNABE_00004 3168 9 Skin 0.04 protein_coding synonymous_variant LOW 132G>A Glu44Glu
M0026394 JAIGNABE_00005 4802 9 Skin 0.04 protein_coding synonymous_variant LOW 918C>A Pro306Pro
M0026395 JAIGNABE_00005 5018 14 Skin 0.06 protein_coding synonymous_variant LOW 1134C>T His378His
M0026396 JAIGNABE_00006 5388 7 Skin 0.03 protein_coding missense_variant MODERATE 50G>T Gly17Val
M0026397 JAIGNABE_00002 1382 5 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -69A>G None
M0026398 JAIGNABE_00002 1559 4 Skin 0.02 protein_coding missense_variant MODERATE 109C>T Pro37Ser
M0026399 JAIGNABE_00004 3654 4 Skin 0.02 protein_coding synonymous_variant LOW 618G>C Leu206Leu
M0026400 JAIGNABE_00006 6085 3 Skin 0.01 protein_coding synonymous_variant LOW 747C>T Leu249Leu
M0026401 JAIGNABE_00001 95 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -568G>T None
M0026402 JAIGNABE_00001 102 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -561A>T None
M0026403 JAIGNABE_00001 381 8 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -282T>C None
M0026404 JAIGNABE_00001 618 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -45G>A None
M0026405 JAIGNABE_00011 8960 3 Skin 0.01 protein_coding synonymous_variant LOW 465G>A Gln155Gln
M0026406 JAIGNABE_00011 9137 43 Skin 0.18 protein_coding synonymous_variant LOW 642T>C Ala214Ala
M0026407 JAIGNABE_00006 5878 3 Skin 0.01 protein_coding synonymous_variant LOW 540A>T Ala180Ala
M0026408 JAIGNABE_00006 6109 26 Skin 0.11 protein_coding synonymous_variant LOW 771C>T Tyr257Tyr
M0026409 JAIGNABE_00009 7759 9 Skin 0.04 protein_coding synonymous_variant LOW 267C>T Ala89Ala
M0026410 JAIGNABE_00011 9035 10 Skin 0.04 protein_coding synonymous_variant LOW 540A>G Arg180Arg
M0026411 JAIGNABE_00011 9062 16 Skin 0.07 protein_coding synonymous_variant LOW 567C>T Gly189Gly
M0026412 JAIGNABE_00011 9131 14 Skin 0.06 protein_coding synonymous_variant LOW 636A>G Gly212Gly
M0026413 JAIGNABE_00011 9328 3 Skin 0.01 protein_coding missense_variant MODERATE 833C>T Pro278Leu
M0026414 JAIGNABE_00011 9564 8 Skin 0.03 protein_coding synonymous_variant LOW 1069C>T Leu357Leu
M0026415 JAIGNABE_00011 10035 5 Skin 0.02 protein_coding missense_variant MODERATE 1540G>T Ala514Ser
M0026416 JAIGNABE_00011 10097 6 Skin 0.03 protein_coding synonymous_variant LOW 1602C>T Ala534Ala
M0026417 JAIGNABE_00011 10109 8 Skin 0.03 protein_coding synonymous_variant LOW 1614T>C Asp538Asp
M0026418 JAIGNABE_00011 10244 23 Skin 0.10 protein_coding synonymous_variant LOW 1749A>G Gln583Gln
M0026419 JAIGNABE_00011 10353 28 Skin 0.12 protein_coding missense_variant MODERATE 1858G>A Ala620Thr
M0026420 JAIGNABE_00011 10360 28 Skin 0.12 protein_coding missense_variant MODERATE 1865A>G Asp622Gly
M0026421 JAIGNABE_00011 10382 24 Skin 0.10 protein_coding missense_variant MODERATE 1887C>G Cys629Trp
M0026422 JAIGNABE_00011 10410 28 Skin 0.12 protein_coding missense_variant MODERATE 1915G>A Val639Ile
M0026423 JAIGNABE_00011 10429 25 Skin 0.11 protein_coding missense_variant MODERATE 1934C>T Thr645Ile
M0026424 JAIGNABE_00011 10623 9 Skin 0.04 protein_coding missense_variant MODERATE 2128C>T Leu710Phe
M0026425 JAIGNABE_00011 10625 5 Skin 0.02 protein_coding synonymous_variant LOW 2130C>A Leu710Leu
M0026426 JAIGNABE_00011 10628 9 Skin 0.04 protein_coding missense_variant MODERATE 2133T>G His711Gln
M0026427 JAIGNABE_00011 10629 9 Skin 0.04 protein_coding missense_variant MODERATE 2134G>C Asp712His
M0026428 JAIGNABE_00011 10647 13 Skin 0.05 protein_coding missense_variant MODERATE 2152T>C Tyr718His
M0026429 JAIGNABE_00011 10653 9 Skin 0.04 protein_coding missense_variant MODERATE 2158G>A Val720Ile
M0026430 JAIGNABE_00011 10655 9 Skin 0.04 protein_coding synonymous_variant LOW 2160C>T Val720Val
M0026431 JAIGNABE_00011 10659 9 Skin 0.04 protein_coding missense_variant MODERATE 2164A>G Ser722Gly
M0026432 JAIGNABE_00011 10660 9 Skin 0.04 protein_coding missense_variant MODERATE 2165G>A Ser722Asn
M0026433 JAIGNABE_00011 10669 12 Skin 0.05 protein_coding missense_variant MODERATE 2174C>T Ala725Val
M0026434 JAIGNABE_00011 10676 10 Skin 0.04 protein_coding synonymous_variant LOW 2181T>C Cys727Cys
M0026435 JAIGNABE_00011 10698 23 Skin 0.10 protein_coding missense_variant MODERATE 2203G>C Gly735Arg
M0026436 JAIGNABE_00011 11482 8 Skin 0.03 protein_coding missense_variant MODERATE 2987G>A Ser996Asn
M0026437 JAIGNABE_00011 11514 5 Skin 0.02 protein_coding synonymous_variant LOW 3019A>C Arg1007Arg
M0026438 JAIGNABE_00011 11518 5 Skin 0.02 protein_coding missense_variant MODERATE 3023T>C Ile1008Thr
M0026439 JAIGNABE_00011 11741 37 Skin 0.16 protein_coding synonymous_variant LOW 3246C>T Ser1082Ser
M0026440 JAIGNABE_00013 12357 28 Skin 0.12 protein_coding upstream_gene_variant MODIFIER -1791T>C None
M0026441 JAIGNABE_00013 12375 28 Skin 0.12 protein_coding upstream_gene_variant MODIFIER -1773A>G None
M0026442 JAIGNABE_00013 12578 14 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -1570C>T None
M0026443 JAIGNABE_00012 12698 25 Skin 0.11 protein_coding synonymous_variant LOW 1284T>C Asp428Asp
M0026444 JAIGNABE_00012 12815 18 Skin 0.08 protein_coding synonymous_variant LOW 1167G>A Ala389Ala
M0026445 JAIGNABE_00012 12825 22 Skin 0.09 protein_coding missense_variant MODERATE 1157C>G Ala386Gly
M0026446 JAIGNABE_00012 12902 18 Skin 0.08 protein_coding synonymous_variant LOW 1080T>C Cys360Cys
M0026447 JAIGNABE_00012 12932 20 Skin 0.08 protein_coding synonymous_variant LOW 1050G>A Gln350Gln
M0026448 JAIGNABE_00012 12943 21 Skin 0.09 protein_coding missense_variant MODERATE 1039G>C Val347Leu
M0026449 JAIGNABE_00012 12944 20 Skin 0.08 protein_coding synonymous_variant LOW 1038T>C Gly346Gly
M0026450 JAIGNABE_00012 12962 31 Skin 0.13 protein_coding synonymous_variant LOW 1020C>T Ile340Ile
M0026451 JAIGNABE_00012 12991 28 Skin 0.12 protein_coding missense_variant MODERATE 991G>T Ala331Ser
M0026452 JAIGNABE_00012 13043 16 Skin 0.07 protein_coding synonymous_variant LOW 939G>T Arg313Arg
M0026453 JAIGNABE_00012 13898 13 Skin 0.05 protein_coding synonymous_variant LOW 84G>T Ala28Ala
M0026454 JAIGNABE_00014 14528 7 Skin 0.03 protein_coding synonymous_variant LOW 54C>T His18His
M0026455 JAIGNABE_00014 15436 24 Skin 0.10 protein_coding missense_variant MODERATE 962A>G His321Arg
M0026456 JAIGNABE_00014 15480 27 Skin 0.11 protein_coding missense_variant MODERATE 1006A>G Thr336Ala
M0026457 JAIGNABE_00014 15491 35 Skin 0.15 protein_coding synonymous_variant LOW 1017G>A Gly339Gly
M0026458 JAIGNABE_00014 15494 17 Skin 0.07 protein_coding synonymous_variant LOW 1020C>T Arg340Arg
M0026459 JAIGNABE_00014 15536 33 Skin 0.14 protein_coding synonymous_variant LOW 1062C>T Leu354Leu
M0026460 JAIGNABE_00014 15544 29 Skin 0.12 protein_coding missense_variant MODERATE 1070A>G Asn357Ser
M0026461 JAIGNABE_00014 15578 30 Skin 0.13 protein_coding synonymous_variant LOW 1104A>G Leu368Leu
M0026462 JAIGNABE_00014 15668 19 Skin 0.08 protein_coding missense_variant MODERATE 1194A>T Glu398Asp
M0026463 JAIGNABE_00014 15677 20 Skin 0.08 protein_coding synonymous_variant LOW 1203T>C Arg401Arg
M0026464 JAIGNABE_00003 2209 17 Skin 0.07 protein_coding upstream_gene_variant MODIFIER -292A>G None
M0026465 JAIGNABE_00007 7102 10 Skin 0.04 protein_coding missense_variant MODERATE 788C>T Ala263Val
M0026466 JAIGNABE_00007 7175 8 Skin 0.03 protein_coding synonymous_variant LOW 861C>T Leu287Leu
M0026467 JAIGNABE_00011 9022 17 Skin 0.07 protein_coding missense_variant MODERATE 527C>T Ser176Leu
M0026468 JAIGNABE_00011 10128 12 Skin 0.05 protein_coding synonymous_variant LOW 1633C>A Arg545Arg
M0026469 JAIGNABE_00011 10129 12 Skin 0.05 protein_coding missense_variant MODERATE 1634G>A Arg545Gln
M0026470 JAIGNABE_00011 10151 15 Skin 0.06 protein_coding synonymous_variant LOW 1656G>A Ala552Ala
M0026471 JAIGNABE_00011 10271 11 Skin 0.05 protein_coding synonymous_variant LOW 1776G>A Arg592Arg
M0026472 JAIGNABE_00011 10493 13 Skin 0.05 protein_coding synonymous_variant LOW 1998T>C Arg666Arg
M0026473 JAIGNABE_00011 10714 17 Skin 0.07 protein_coding missense_variant MODERATE 2219A>C Gln740Pro
M0026474 JAIGNABE_00011 10830 24 Skin 0.10 protein_coding synonymous_variant LOW 2335C>A Arg779Arg
M0026475 JAIGNABE_00011 12122 8 Skin 0.03 protein_coding synonymous_variant LOW 3627G>A Ala1209Ala
M0026476 JAIGNABE_00011 12239 29 Skin 0.12 protein_coding synonymous_variant LOW 3744T>C Arg1248Arg
M0026477 JAIGNABE_00013 12594 17 Skin 0.07 protein_coding upstream_gene_variant MODIFIER -1554G>A None
M0026478 JAIGNABE_00012 12707 15 Skin 0.06 protein_coding synonymous_variant LOW 1275G>C Arg425Arg
M0026479 JAIGNABE_00012 12728 28 Skin 0.12 protein_coding synonymous_variant LOW 1254C>T Gly418Gly
M0026480 JAIGNABE_00012 12799 14 Skin 0.06 protein_coding missense_variant MODERATE 1183A>G Ile395Val
M0026481 JAIGNABE_00012 13178 28 Skin 0.12 protein_coding synonymous_variant LOW 804T>C Arg268Arg
M0026482 JAIGNABE_00012 13574 17 Skin 0.07 protein_coding synonymous_variant LOW 408G>A Gly136Gly
M0026483 JAIGNABE_00012 13960 14 Skin 0.06 protein_coding missense_variant MODERATE 22C>T Arg8Cys
M0026484 JAIGNABE_00012 14098 6 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -117G>A None
M0026485 JAIGNABE_00012 14099 6 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -118G>A None
M0026486 JAIGNABE_00014 14497 5 Skin 0.02 protein_coding missense_variant MODERATE 23C>T Ala8Val
M0026487 JAIGNABE_00014 15329 3 Skin 0.01 protein_coding synonymous_variant LOW 855C>T Asp285Asp
M0026488 JAIGNABE_00014 15557 12 Skin 0.05 protein_coding synonymous_variant LOW 1083A>G Val361Val
M0026489 JAIGNABE_00014 15731 25 Skin 0.11 protein_coding synonymous_variant LOW 1257C>T Asp419Asp
M0026490 JAIGNABE_00014 15758 11 Skin 0.05 protein_coding synonymous_variant LOW 1284C>T Ala428Ala
M0026491 JAIGNABE_00014 15786 8 Skin 0.03 protein_coding missense_variant MODERATE 1312C>T Pro438Ser
M0026492 JAIGNABE_00014 15800 28 Skin 0.12 protein_coding synonymous_variant LOW 1326T>G Arg442Arg
M0026493 JAIGNABE_00014 15812 29 Skin 0.12 protein_coding synonymous_variant LOW 1338T>C Asp446Asp
M0026494 JAIGNABE_00014 15848 4 Skin 0.02 protein_coding synonymous_variant LOW 1374T>C Ile458Ile
M0026495 JAIGNABE_00014 15935 24 Skin 0.10 protein_coding synonymous_variant LOW 1461C>T Gly487Gly
M0026496 JAIGNABE_00014 15941 18 Skin 0.08 protein_coding synonymous_variant LOW 1467G>T Leu489Leu
M0026497 JAIGNABE_00014 15998 23 Skin 0.10 protein_coding synonymous_variant LOW 1524C>T Gly508Gly
M0026498 JAIGNABE_00014 16001 32 Skin 0.13 protein_coding synonymous_variant LOW 1527C>T Arg509Arg
M0026499 JAIGNABE_00014 16055 25 Skin 0.11 protein_coding synonymous_variant LOW 1581A>G Gly527Gly
M0026500 JAIGNABE_00014 16097 17 Skin 0.07 protein_coding synonymous_variant LOW 1623A>G Gly541Gly
M0026501 JAIGNABE_00014 16133 29 Skin 0.12 protein_coding synonymous_variant LOW 1659T>C Ile553Ile
M0026502 JAIGNABE_00015 16168 19 Skin 0.08 protein_coding missense_variant MODERATE 484G>T Ala162Ser
M0026503 JAIGNABE_00015 16169 19 Skin 0.08 protein_coding synonymous_variant LOW 483T>C Gly161Gly
M0026504 JAIGNABE_00015 16171 19 Skin 0.08 protein_coding missense_variant MODERATE 481G>C Gly161Arg
M0026505 JAIGNABE_00015 16175 19 Skin 0.08 protein_coding synonymous_variant LOW 477T>C Gly159Gly
M0026506 JAIGNABE_00015 16280 14 Skin 0.06 protein_coding synonymous_variant LOW 372C>T His124His
M0026507 JAIGNABE_00015 16394 4 Skin 0.02 protein_coding synonymous_variant LOW 258T>G Ala86Ala
M0026508 JAIGNABE_00015 16412 4 Skin 0.02 protein_coding synonymous_variant LOW 240G>A Arg80Arg
M0026509 JAIGNABE_00015 16538 9 Skin 0.04 protein_coding synonymous_variant LOW 114T>G Gly38Gly
M0026510 JAIGNABE_00012 16940 20 Skin 0.08 protein_coding upstream_gene_variant MODIFIER -2959T>C None
M0026511 JAIGNABE_00012 17035 7 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -3054G>A None
M0026512 JAIGNABE_00012 17036 7 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -3055T>A None
M0026513 JAIGNABE_00016 17058 4 Skin 0.02 protein_coding synonymous_variant LOW 2565G>A Ala855Ala
M0026514 JAIGNABE_00016 17099 13 Skin 0.05 protein_coding synonymous_variant LOW 2524T>C Leu842Leu
M0026515 JAIGNABE_00016 17106 6 Skin 0.03 protein_coding synonymous_variant LOW 2517A>G Ala839Ala
M0026516 JAIGNABE_00016 17111 15 Skin 0.06 protein_coding synonymous_variant LOW 2512T>C Leu838Leu
M0026517 JAIGNABE_00016 17150 6 Skin 0.03 protein_coding missense_variant MODERATE 2473A>G Thr825Ala
M0026518 JAIGNABE_00016 17172 6 Skin 0.03 protein_coding missense_variant MODERATE 2451C>G His817Gln
M0026519 JAIGNABE_00016 17175 6 Skin 0.03 protein_coding missense_variant MODERATE 2448A>G Ile816Met
M0026520 JAIGNABE_00016 17177 6 Skin 0.03 protein_coding missense_variant MODERATE 2446A>G Ile816Val
M0026521 JAIGNABE_00016 17191 12 Skin 0.05 protein_coding missense_variant MODERATE 2432A>G Asp811Gly
M0026522 JAIGNABE_00016 17193 12 Skin 0.05 protein_coding synonymous_variant LOW 2430C>G Ala810Ala
M0026523 JAIGNABE_00016 17198 12 Skin 0.05 protein_coding missense_variant MODERATE 2425A>G Thr809Ala
M0026524 JAIGNABE_00016 17459 9 Skin 0.04 protein_coding synonymous_variant LOW 2164C>T Leu722Leu
M0026525 JAIGNABE_00016 17490 17 Skin 0.07 protein_coding synonymous_variant LOW 2133T>C Gly711Gly
M0026526 JAIGNABE_00016 17538 15 Skin 0.06 protein_coding synonymous_variant LOW 2085G>A Glu695Glu
M0026527 JAIGNABE_00016 17540 15 Skin 0.06 protein_coding missense_variant MODERATE 2083G>C Glu695Gln
M0026528 JAIGNABE_00016 17565 5 Skin 0.02 protein_coding synonymous_variant LOW 2058C>T Asp686Asp
M0026529 JAIGNABE_00003 2414 5 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -87C>T None
M0026530 JAIGNABE_00004 3231 8 Skin 0.03 protein_coding missense_variant MODERATE 195G>C Gln65His
M0026531 JAIGNABE_00004 3420 9 Skin 0.04 protein_coding synonymous_variant LOW 384T>C Asp128Asp
M0026532 JAIGNABE_00005 4451 11 Skin 0.05 protein_coding synonymous_variant LOW 567T>G Ala189Ala
M0026533 JAIGNABE_00005 4505 14 Skin 0.06 protein_coding synonymous_variant LOW 621T>C Gly207Gly
M0026534 JAIGNABE_00005 4544 14 Skin 0.06 protein_coding synonymous_variant LOW 660T>C Ala220Ala
M0026535 JAIGNABE_00005 4676 7 Skin 0.03 protein_coding synonymous_variant LOW 792C>T Ile264Ile
M0026536 JAIGNABE_00006 5944 11 Skin 0.05 protein_coding synonymous_variant LOW 606G>A Arg202Arg
M0026537 JAIGNABE_00006 6079 8 Skin 0.03 protein_coding synonymous_variant LOW 741T>C Ser247Ser
M0026538 JAIGNABE_00006 6103 6 Skin 0.03 protein_coding synonymous_variant LOW 765G>A Gly255Gly
M0026539 JAIGNABE_00006 6131 6 Skin 0.03 protein_coding synonymous_variant LOW 793T>C Leu265Leu
M0026540 JAIGNABE_00006 6184 8 Skin 0.03 protein_coding synonymous_variant LOW 846C>G Val282Val
M0026541 JAIGNABE_00007 6770 24 Skin 0.10 protein_coding synonymous_variant LOW 456G>A Gln152Gln
M0026542 JAIGNABE_00008 7261 29 Skin 0.12 protein_coding upstream_gene_variant MODIFIER -50C>G None
M0026543 JAIGNABE_00009 7599 3 Skin 0.01 protein_coding missense_variant MODERATE 107C>T Ala36Val
M0026544 JAIGNABE_00009 7632 10 Skin 0.04 protein_coding missense_variant MODERATE 140G>A Arg47His
M0026545 JAIGNABE_00009 7858 3 Skin 0.01 protein_coding synonymous_variant LOW 366G>A Leu122Leu
M0026546 JAIGNABE_00011 8617 10 Skin 0.04 protein_coding missense_variant MODERATE 122C>T Ala41Val
M0026547 JAIGNABE_00011 8639 10 Skin 0.04 protein_coding synonymous_variant LOW 144C>A Gly48Gly
M0026548 JAIGNABE_00011 8703 7 Skin 0.03 protein_coding missense_variant MODERATE 208G>T Val70Phe
M0026549 JAIGNABE_00011 8729 7 Skin 0.03 protein_coding synonymous_variant LOW 234G>A Ala78Ala
M0026550 JAIGNABE_00011 8774 6 Skin 0.03 protein_coding synonymous_variant LOW 279C>T Val93Val
M0026551 JAIGNABE_00011 8807 6 Skin 0.03 protein_coding synonymous_variant LOW 312T>C Ser104Ser
M0026552 JAIGNABE_00011 8860 9 Skin 0.04 protein_coding missense_variant MODERATE 365C>T Thr122Ile
M0026553 JAIGNABE_00011 8871 6 Skin 0.03 protein_coding missense_variant MODERATE 376G>A Ala126Thr
M0026554 JAIGNABE_00008 7241 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -70C>T None
M0026555 JAIGNABE_00011 9017 9 Skin 0.04 protein_coding synonymous_variant LOW 522A>G Arg174Arg
M0026556 JAIGNABE_00011 9149 9 Skin 0.04 protein_coding synonymous_variant LOW 654T>C Ile218Ile
M0026557 JAIGNABE_00011 9155 11 Skin 0.05 protein_coding synonymous_variant LOW 660A>G Arg220Arg
M0026558 JAIGNABE_00011 9164 19 Skin 0.08 protein_coding synonymous_variant LOW 669A>G Pro223Pro
M0026559 JAIGNABE_00011 9940 11 Skin 0.05 protein_coding missense_variant MODERATE 1445C>T Ala482Val
M0026560 JAIGNABE_00011 10492 4 Skin 0.02 protein_coding missense_variant MODERATE 1997G>A Arg666His
M0026561 JAIGNABE_00011 11654 7 Skin 0.03 protein_coding synonymous_variant LOW 3159T>C Ile1053Ile
M0026562 JAIGNABE_00011 11666 7 Skin 0.03 protein_coding synonymous_variant LOW 3171T>C Ala1057Ala
M0026563 JAIGNABE_00011 11667 7 Skin 0.03 protein_coding synonymous_variant LOW 3172C>A Arg1058Arg
M0026564 JAIGNABE_00011 11792 3 Skin 0.01 protein_coding synonymous_variant LOW 3297G>A Arg1099Arg
M0026565 JAIGNABE_00011 11897 6 Skin 0.03 protein_coding synonymous_variant LOW 3402C>T Val1134Val
M0026566 JAIGNABE_00011 11903 5 Skin 0.02 protein_coding synonymous_variant LOW 3408C>T Ile1136Ile
M0026567 JAIGNABE_00011 11904 5 Skin 0.02 protein_coding missense_variant MODERATE 3409A>G Thr1137Ala
M0026568 JAIGNABE_00011 11966 3 Skin 0.01 protein_coding synonymous_variant LOW 3471T>C Gly1157Gly
M0026569 JAIGNABE_00011 12008 8 Skin 0.03 protein_coding synonymous_variant LOW 3513T>C Ala1171Ala
M0026570 JAIGNABE_00011 12085 4 Skin 0.02 protein_coding missense_variant MODERATE 3590G>A Gly1197Asp
M0026571 JAIGNABE_00011 12161 6 Skin 0.03 protein_coding synonymous_variant LOW 3666A>G Thr1222Thr
M0026572 JAIGNABE_00011 12167 4 Skin 0.02 protein_coding synonymous_variant LOW 3672C>T Ile1224Ile
M0026573 JAIGNABE_00011 12191 6 Skin 0.03 protein_coding synonymous_variant LOW 3696T>C Asp1232Asp
M0026574 JAIGNABE_00011 12194 6 Skin 0.03 protein_coding synonymous_variant LOW 3699T>C Arg1233Arg
M0026575 JAIGNABE_00011 12218 4 Skin 0.02 protein_coding synonymous_variant LOW 3723C>T Tyr1241Tyr
M0026576 JAIGNABE_00012 12742 7 Skin 0.03 protein_coding missense_variant MODERATE 1240C>G Leu414Val
M0026577 JAIGNABE_00012 13093 7 Skin 0.03 protein_coding synonymous_variant LOW 889C>T Leu297Leu
M0026578 JAIGNABE_00012 13181 8 Skin 0.03 protein_coding synonymous_variant LOW 801C>T Tyr267Tyr
M0026579 JAIGNABE_00006 5563 21 Skin 0.09 protein_coding synonymous_variant LOW 225G>C Val75Val
M0026580 JAIGNABE_00011 11021 12 Skin 0.05 protein_coding synonymous_variant LOW 2526C>T Pro842Pro
M0026581 JAIGNABE_00005 4157 3 Skin 0.01 protein_coding synonymous_variant LOW 273C>T Gly91Gly
M0026582 JAIGNABE_00006 6213 4 Skin 0.02 protein_coding missense_variant MODERATE 875C>T Thr292Met
M0026583 JAIGNABE_00006 6235 4 Skin 0.02 protein_coding synonymous_variant LOW 897T>C Leu299Leu
M0026584 JAIGNABE_00011 9444 14 Skin 0.06 protein_coding missense_variant MODERATE 949T>G Ser317Ala
M0026585 JAIGNABE_00011 9793 13 Skin 0.05 protein_coding missense_variant MODERATE 1298C>T Pro433Leu
M0026586 JAIGNABE_00011 9493 3 Skin 0.01 protein_coding missense_variant MODERATE 998T>C Leu333Pro
M0026587 JAIGNABE_00007 6914 8 Skin 0.03 protein_coding synonymous_variant LOW 600G>A Glu200Glu
M0026588 JAIGNABE_00008 7260 7 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -51C>T None
M0026589 JAIGNABE_00008 7466 8 Skin 0.03 protein_coding synonymous_variant LOW 156T>C Thr52Thr
M0026590 JAIGNABE_00011 10357 14 Skin 0.06 protein_coding missense_variant MODERATE 1862C>T Thr621Met
M0026591 JAIGNABE_00011 10388 14 Skin 0.06 protein_coding synonymous_variant LOW 1893G>A Ser631Ser
M0026592 JAIGNABE_00011 10621 4 Skin 0.02 protein_coding missense_variant MODERATE 2126C>T Ala709Val
M0026593 JAIGNABE_00012 12668 6 Skin 0.03 protein_coding synonymous_variant LOW 1314C>A Gly438Gly
M0026594 JAIGNABE_00012 13631 7 Skin 0.03 protein_coding synonymous_variant LOW 351C>T Ile117Ile
M0026595 JAIGNABE_00012 13802 11 Skin 0.05 protein_coding synonymous_variant LOW 180G>A Thr60Thr
M0026596 JAIGNABE_00012 13844 10 Skin 0.04 protein_coding synonymous_variant LOW 138G>A Gln46Gln
M0026597 JAIGNABE_00012 13847 10 Skin 0.04 protein_coding synonymous_variant LOW 135G>A Glu45Glu
M0026598 JAIGNABE_00013 14319 4 Skin 0.02 protein_coding missense_variant MODERATE 172G>A Gly58Ser
M0026599 JAIGNABE_00013 14328 5 Skin 0.02 protein_coding stop_lost&splice_region_variant HIGH 181T>G Ter61Glyext*?
M0026600 JAIGNABE_00014 14978 4 Skin 0.02 protein_coding synonymous_variant LOW 504C>T Asp168Asp
M0026601 JAIGNABE_00014 15243 7 Skin 0.03 protein_coding synonymous_variant LOW 769C>T Leu257Leu
M0026602 JAIGNABE_00014 15284 4 Skin 0.02 protein_coding synonymous_variant LOW 810A>C Gly270Gly
M0026603 JAIGNABE_00014 15780 5 Skin 0.02 protein_coding missense_variant MODERATE 1306G>C Asp436His
M0026604 JAIGNABE_00015 16247 16 Skin 0.07 protein_coding synonymous_variant LOW 405A>G Lys135Lys
M0026605 JAIGNABE_00015 16391 4 Skin 0.02 protein_coding synonymous_variant LOW 261C>T Ala87Ala
M0026606 JAIGNABE_00016 17497 13 Skin 0.05 protein_coding missense_variant MODERATE 2126G>A Ser709Asn
M0026607 JAIGNABE_00016 18069 12 Skin 0.05 protein_coding synonymous_variant LOW 1554G>A Glu518Glu
M0026608 JAIGNABE_00016 18072 12 Skin 0.05 protein_coding missense_variant MODERATE 1551T>G Asp517Glu
M0026609 JAIGNABE_00016 18080 15 Skin 0.06 protein_coding missense_variant MODERATE 1543A>C Met515Leu
M0026610 JAIGNABE_00016 18111 17 Skin 0.07 protein_coding synonymous_variant LOW 1512C>G Pro504Pro
M0026611 JAIGNABE_00016 18120 15 Skin 0.06 protein_coding synonymous_variant LOW 1503G>A Glu501Glu
M0026612 JAIGNABE_00016 18173 17 Skin 0.07 protein_coding synonymous_variant LOW 1450T>C Leu484Leu
M0026613 JAIGNABE_00016 18186 17 Skin 0.07 protein_coding synonymous_variant LOW 1437T>C Gly479Gly
M0026614 JAIGNABE_00016 18189 17 Skin 0.07 protein_coding synonymous_variant LOW 1434T>C Val478Val
M0026615 JAIGNABE_00016 18192 15 Skin 0.06 protein_coding synonymous_variant LOW 1431G>A Ala477Ala
M0026616 JAIGNABE_00016 18204 17 Skin 0.07 protein_coding synonymous_variant LOW 1419T>C Ala473Ala
M0026617 JAIGNABE_00016 18225 17 Skin 0.07 protein_coding synonymous_variant LOW 1398T>C Arg466Arg
M0026618 JAIGNABE_00016 18243 17 Skin 0.07 protein_coding synonymous_variant LOW 1380G>A Ala460Ala
M0026619 JAIGNABE_00016 18246 17 Skin 0.07 protein_coding synonymous_variant LOW 1377T>C Asn459Asn
M0026620 JAIGNABE_00016 18261 17 Skin 0.07 protein_coding synonymous_variant LOW 1362A>G Arg454Arg
M0026621 JAIGNABE_00016 18264 17 Skin 0.07 protein_coding synonymous_variant LOW 1359G>A Ala453Ala
M0026622 JAIGNABE_00016 18273 17 Skin 0.07 protein_coding synonymous_variant LOW 1350A>T Gly450Gly
M0026623 JAIGNABE_00016 18282 17 Skin 0.07 protein_coding synonymous_variant LOW 1341C>T Arg447Arg
M0026624 JAIGNABE_00016 18285 15 Skin 0.06 protein_coding synonymous_variant LOW 1338C>T Ile446Ile
M0026625 JAIGNABE_00016 18432 15 Skin 0.06 protein_coding synonymous_variant LOW 1191C>T Gly397Gly
M0026626 JAIGNABE_00016 18438 23 Skin 0.10 protein_coding synonymous_variant LOW 1185G>C Leu395Leu
M0026627 JAIGNABE_00016 18477 23 Skin 0.10 protein_coding synonymous_variant LOW 1146C>G Ala382Ala
M0026628 JAIGNABE_00016 18516 21 Skin 0.09 protein_coding synonymous_variant LOW 1107A>G Ala369Ala
M0026629 JAIGNABE_00016 18519 10 Skin 0.04 protein_coding synonymous_variant LOW 1104G>A Glu368Glu
M0026630 JAIGNABE_00016 18545 21 Skin 0.09 protein_coding synonymous_variant LOW 1078C>A Arg360Arg
M0026631 JAIGNABE_00016 18572 23 Skin 0.10 protein_coding missense_variant MODERATE 1051A>G Ile351Val
M0026632 JAIGNABE_00016 18606 23 Skin 0.10 protein_coding synonymous_variant LOW 1017C>G Leu339Leu
M0026633 JAIGNABE_00016 18642 23 Skin 0.10 protein_coding synonymous_variant LOW 981T>C Ala327Ala
M0026634 JAIGNABE_00016 18661 23 Skin 0.10 protein_coding missense_variant MODERATE 962C>G Ala321Gly
M0026635 JAIGNABE_00016 18674 23 Skin 0.10 protein_coding missense_variant MODERATE 949T>C Phe317Leu
M0026636 JAIGNABE_00016 18681 23 Skin 0.10 protein_coding synonymous_variant LOW 942T>C Gly314Gly
M0026637 JAIGNABE_00016 18687 23 Skin 0.10 protein_coding synonymous_variant LOW 936G>C Val312Val
M0026638 JAIGNABE_00016 18696 21 Skin 0.09 protein_coding synonymous_variant LOW 927G>C Leu309Leu
M0026639 JAIGNABE_00016 18698 21 Skin 0.09 protein_coding synonymous_variant LOW 925C>T Leu309Leu
M0026640 JAIGNABE_00016 18714 17 Skin 0.07 protein_coding synonymous_variant LOW 909C>T Gly303Gly
M0026641 JAIGNABE_00016 18765 23 Skin 0.10 protein_coding synonymous_variant LOW 858C>T Ala286Ala
M0026642 JAIGNABE_00016 18768 23 Skin 0.10 protein_coding synonymous_variant LOW 855C>T Gly285Gly
M0026643 JAIGNABE_00016 18777 23 Skin 0.10 protein_coding synonymous_variant LOW 846C>T Arg282Arg
M0026644 JAIGNABE_00016 18784 27 Skin 0.11 protein_coding missense_variant MODERATE 839C>T Pro280Leu
M0026645 JAIGNABE_00016 18801 23 Skin 0.10 protein_coding synonymous_variant LOW 822C>T Arg274Arg
M0026646 JAIGNABE_00016 18828 21 Skin 0.09 protein_coding synonymous_variant LOW 795C>G Thr265Thr
M0026647 JAIGNABE_00016 18854 21 Skin 0.09 protein_coding synonymous_variant LOW 769T>C Leu257Leu
M0026648 JAIGNABE_00016 18858 14 Skin 0.06 protein_coding synonymous_variant LOW 765A>G Ala255Ala
M0026649 JAIGNABE_00016 18954 17 Skin 0.07 protein_coding synonymous_variant LOW 669G>A Ala223Ala
M0026650 JAIGNABE_00016 18966 20 Skin 0.08 protein_coding missense_variant MODERATE 657G>C Glu219Asp
M0026651 JAIGNABE_00016 18971 19 Skin 0.08 protein_coding missense_variant MODERATE 652G>A Asp218Asn
M0026652 JAIGNABE_00016 18981 21 Skin 0.09 protein_coding synonymous_variant LOW 642A>G Lys214Lys
M0026653 JAIGNABE_00016 18995 20 Skin 0.08 protein_coding missense_variant MODERATE 628A>G Thr210Ala
M0026654 JAIGNABE_00016 19011 21 Skin 0.09 protein_coding synonymous_variant LOW 612A>G Ala204Ala
M0026655 JAIGNABE_00016 19031 20 Skin 0.08 protein_coding missense_variant MODERATE 592A>G Thr198Ala
M0026656 JAIGNABE_00016 19044 18 Skin 0.08 protein_coding synonymous_variant LOW 579A>G Lys193Lys
M0026657 JAIGNABE_00016 19058 21 Skin 0.09 protein_coding synonymous_variant LOW 565C>T Leu189Leu
M0026658 JAIGNABE_00016 19072 18 Skin 0.08 protein_coding missense_variant MODERATE 551G>A Gly184Asp
M0026659 JAIGNABE_00016 19075 18 Skin 0.08 protein_coding missense_variant MODERATE 548A>G Asp183Gly
M0026660 JAIGNABE_00016 19081 18 Skin 0.08 protein_coding missense_variant MODERATE 542G>A Gly181Asp
M0026661 JAIGNABE_00016 19088 18 Skin 0.08 protein_coding missense_variant MODERATE 535A>G Lys179Glu
M0026662 JAIGNABE_00016 19092 18 Skin 0.08 protein_coding synonymous_variant LOW 531A>G Pro177Pro
M0026663 JAIGNABE_00016 19098 21 Skin 0.09 protein_coding synonymous_variant LOW 525T>C Gly175Gly
M0026664 JAIGNABE_00016 19099 18 Skin 0.08 protein_coding missense_variant MODERATE 524G>A Gly175Asp
M0026665 JAIGNABE_00016 19393 14 Skin 0.06 protein_coding missense_variant MODERATE 230A>G Asp77Gly
M0026666 JAIGNABE_00016 19530 20 Skin 0.08 protein_coding synonymous_variant LOW 93A>G Ser31Ser
M0026667 JAIGNABE_00017 19692 15 Skin 0.06 protein_coding missense_variant MODERATE 719G>A Arg240His
M0026668 JAIGNABE_00017 19913 5 Skin 0.02 protein_coding synonymous_variant LOW 498T>C Gly166Gly
M0026669 JAIGNABE_00017 20017 21 Skin 0.09 protein_coding synonymous_variant LOW 394T>C Leu132Leu
M0026670 JAIGNABE_00017 20204 20 Skin 0.08 protein_coding synonymous_variant LOW 207C>A Ser69Ser
M0026671 JAIGNABE_00017 20226 25 Skin 0.11 protein_coding missense_variant MODERATE 185T>G Val62Gly
M0026672 JAIGNABE_00017 20252 4 Skin 0.02 protein_coding synonymous_variant LOW 159C>T Ala53Ala
M0026673 JAIGNABE_00017 20261 10 Skin 0.04 protein_coding synonymous_variant LOW 150G>A Val50Val
M0026674 JAIGNABE_00015 20470 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -3819A>T None
M0026675 JAIGNABE_00015 20471 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -3820A>C None
M0026676 JAIGNABE_00015 20482 10 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -3831T>C None
M0026677 JAIGNABE_00015 20514 16 Skin 0.07 protein_coding upstream_gene_variant MODIFIER -3863C>T None
M0026678 JAIGNABE_00015 20560 18 Skin 0.08 protein_coding upstream_gene_variant MODIFIER -3909C>T None
M0026679 JAIGNABE_00015 20562 7 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -3911G>A None
M0026680 JAIGNABE_00015 20563 7 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -3912T>C None
M0026681 JAIGNABE_00015 20809 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -4158G>T None
M0026682 JAIGNABE_00018 20850 13 Skin 0.05 protein_coding synonymous_variant LOW 633C>G Leu211Leu
M0026683 JAIGNABE_00018 20874 12 Skin 0.05 protein_coding synonymous_variant LOW 609C>T Arg203Arg
M0026684 JAIGNABE_00018 20886 13 Skin 0.05 protein_coding synonymous_variant LOW 597A>G Lys199Lys
M0026685 JAIGNABE_00018 20967 11 Skin 0.05 protein_coding synonymous_variant LOW 516T>C Gly172Gly
M0026686 JAIGNABE_00018 21003 13 Skin 0.05 protein_coding synonymous_variant LOW 480T>C Asp160Asp
M0026687 JAIGNABE_00018 21012 13 Skin 0.05 protein_coding synonymous_variant LOW 471A>G Ser157Ser
M0026688 JAIGNABE_00018 21021 13 Skin 0.05 protein_coding synonymous_variant LOW 462A>G Arg154Arg
M0026689 JAIGNABE_00018 21024 13 Skin 0.05 protein_coding synonymous_variant LOW 459A>G Glu153Glu
M0026690 JAIGNABE_00018 21090 10 Skin 0.04 protein_coding synonymous_variant LOW 393C>T Ser131Ser
M0026691 JAIGNABE_00018 21093 13 Skin 0.05 protein_coding synonymous_variant LOW 390A>G Pro130Pro
M0026692 JAIGNABE_00018 21421 13 Skin 0.05 protein_coding missense_variant MODERATE 62A>G His21Arg
M0026693 JAIGNABE_00015 21601 10 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -4950C>T None
M0026694 JAIGNABE_00019 21709 10 Skin 0.04 protein_coding missense_variant MODERATE 602C>T Pro201Leu
M0026695 JAIGNABE_00019 21744 10 Skin 0.04 protein_coding synonymous_variant LOW 567T>C Ile189Ile
M0026696 JAIGNABE_00019 21840 10 Skin 0.04 protein_coding synonymous_variant LOW 471A>G Ala157Ala
M0026697 JAIGNABE_00019 21841 10 Skin 0.04 protein_coding missense_variant MODERATE 470C>T Ala157Val
M0026698 JAIGNABE_00019 21867 6 Skin 0.03 protein_coding synonymous_variant LOW 444C>T Val148Val
M0026699 JAIGNABE_00019 21905 10 Skin 0.04 protein_coding missense_variant MODERATE 406A>G Ile136Val
M0026700 JAIGNABE_00019 22031 10 Skin 0.04 protein_coding synonymous_variant LOW 280T>C Leu94Leu
M0026701 JAIGNABE_00019 22035 9 Skin 0.04 protein_coding synonymous_variant LOW 276T>C Leu92Leu
M0026702 JAIGNABE_00019 22163 5 Skin 0.02 protein_coding missense_variant MODERATE 148G>A Val50Ile
M0026703 JAIGNABE_00019 22170 5 Skin 0.02 protein_coding synonymous_variant LOW 141T>C Asp47Asp
M0026704 JAIGNABE_00019 22176 4 Skin 0.02 protein_coding synonymous_variant LOW 135C>T Tyr45Tyr
M0026705 JAIGNABE_00019 22237 9 Skin 0.04 protein_coding missense_variant MODERATE 74T>A Phe25Tyr
M0026706 JAIGNABE_00019 22300 7 Skin 0.03 protein_coding missense_variant MODERATE 11G>A Gly4Asp
M0026707 JAIGNABE_00019 22305 7 Skin 0.03 protein_coding synonymous_variant LOW 6G>A Arg2Arg
M0026708 JAIGNABE_00020 22339 7 Skin 0.03 protein_coding synonymous_variant LOW 1483T>C Leu495Leu
M0026709 JAIGNABE_00020 22341 7 Skin 0.03 protein_coding missense_variant MODERATE 1481G>C Ser494Thr
M0026710 JAIGNABE_00020 22343 7 Skin 0.03 protein_coding synonymous_variant LOW 1479G>A Val493Val
M0026711 JAIGNABE_00020 22344 7 Skin 0.03 protein_coding missense_variant MODERATE 1478T>C Val493Ala
M0026712 JAIGNABE_00020 22364 9 Skin 0.04 protein_coding synonymous_variant LOW 1458A>G Glu486Glu
M0026713 JAIGNABE_00020 22391 14 Skin 0.06 protein_coding synonymous_variant LOW 1431C>T Gly477Gly
M0026714 JAIGNABE_00020 22403 8 Skin 0.03 protein_coding synonymous_variant LOW 1419A>C Ser473Ser
M0026715 JAIGNABE_00020 22457 7 Skin 0.03 protein_coding synonymous_variant LOW 1365G>A Ala455Ala
M0026716 JAIGNABE_00020 22466 3 Skin 0.01 protein_coding synonymous_variant LOW 1356T>C Tyr452Tyr
M0026717 JAIGNABE_00020 22571 13 Skin 0.05 protein_coding synonymous_variant LOW 1251A>G Glu417Glu
M0026718 JAIGNABE_00020 22577 13 Skin 0.05 protein_coding synonymous_variant LOW 1245A>G Val415Val
M0026719 JAIGNABE_00020 22625 14 Skin 0.06 protein_coding synonymous_variant LOW 1197G>A Gln399Gln
M0026720 JAIGNABE_00020 22628 14 Skin 0.06 protein_coding synonymous_variant LOW 1194A>G Gly398Gly
M0026721 JAIGNABE_00020 22631 14 Skin 0.06 protein_coding synonymous_variant LOW 1191T>C His397His
M0026722 JAIGNABE_00020 22642 6 Skin 0.03 protein_coding synonymous_variant LOW 1180C>T Leu394Leu
M0026723 JAIGNABE_00020 22646 14 Skin 0.06 protein_coding synonymous_variant LOW 1176A>G Val392Val
M0026724 JAIGNABE_00020 22655 14 Skin 0.06 protein_coding synonymous_variant LOW 1167C>A Gly389Gly
M0026725 JAIGNABE_00020 22658 14 Skin 0.06 protein_coding synonymous_variant LOW 1164T>C Ser388Ser
M0026726 JAIGNABE_00020 22662 14 Skin 0.06 protein_coding missense_variant MODERATE 1160G>A Arg387Lys
M0026727 JAIGNABE_00020 22676 14 Skin 0.06 protein_coding synonymous_variant LOW 1146A>G Pro382Pro
M0026728 JAIGNABE_00020 23138 12 Skin 0.05 protein_coding synonymous_variant LOW 684C>T Thr228Thr
M0026729 JAIGNABE_00020 23516 16 Skin 0.07 protein_coding synonymous_variant LOW 306T>C Asp102Asp
M0026730 JAIGNABE_00020 23537 16 Skin 0.07 protein_coding synonymous_variant LOW 285C>G Val95Val
M0026731 JAIGNABE_00020 23563 16 Skin 0.07 protein_coding synonymous_variant LOW 259C>T Leu87Leu
M0026732 JAIGNABE_00020 23564 16 Skin 0.07 protein_coding synonymous_variant LOW 258A>G Gln86Gln
M0026733 JAIGNABE_00020 23567 16 Skin 0.07 protein_coding synonymous_variant LOW 255A>G Glu85Glu
M0026734 JAIGNABE_00020 23724 3 Skin 0.01 protein_coding missense_variant MODERATE 98A>G Gln33Arg
M0026735 JAIGNABE_00020 23728 3 Skin 0.01 protein_coding missense_variant MODERATE 94C>T Pro32Ser
M0026736 JAIGNABE_00021 24442 8 Skin 0.03 protein_coding synonymous_variant LOW 246T>C Val82Val
M0026737 JAIGNABE_00021 24520 5 Skin 0.02 protein_coding synonymous_variant LOW 324G>C Val108Val
M0026738 JAIGNABE_00021 24521 5 Skin 0.02 protein_coding missense_variant MODERATE 325C>A His109Asn
M0026739 JAIGNABE_00021 24523 4 Skin 0.02 protein_coding synonymous_variant LOW 327C>T His109His
M0026740 JAIGNABE_00021 24526 8 Skin 0.03 protein_coding synonymous_variant LOW 330T>G Arg110Arg
M0026741 JAIGNABE_00021 24550 4 Skin 0.02 protein_coding synonymous_variant LOW 354G>C Ser118Ser
M0026742 JAIGNABE_00021 24553 4 Skin 0.02 protein_coding synonymous_variant LOW 357C>T Ile119Ile
M0026743 JAIGNABE_00021 24607 5 Skin 0.02 protein_coding synonymous_variant LOW 411C>T Gly137Gly
M0026744 JAIGNABE_00021 24727 5 Skin 0.02 protein_coding synonymous_variant LOW 531A>G Leu177Leu
M0026745 JAIGNABE_00021 24865 6 Skin 0.03 protein_coding synonymous_variant LOW 669T>C His223His
M0026746 JAIGNABE_00021 24898 9 Skin 0.04 protein_coding synonymous_variant LOW 702T>C Ala234Ala
M0026747 JAIGNABE_00021 24899 9 Skin 0.04 protein_coding synonymous_variant LOW 703C>T Leu235Leu
M0026748 JAIGNABE_00021 24910 10 Skin 0.04 protein_coding synonymous_variant LOW 714C>T Leu238Leu
M0026749 JAIGNABE_00021 24924 8 Skin 0.03 protein_coding missense_variant MODERATE 728C>T Ala243Val
M0026750 JAIGNABE_00006 5611 11 Skin 0.05 protein_coding synonymous_variant LOW 273G>A Leu91Leu
M0026751 JAIGNABE_00014 14669 18 Skin 0.08 protein_coding synonymous_variant LOW 195C>T Thr65Thr
M0026752 JAIGNABE_00016 17778 4 Skin 0.02 protein_coding synonymous_variant LOW 1845A>G Glu615Glu
M0026753 JAIGNABE_00017 20348 19 Skin 0.08 protein_coding synonymous_variant LOW 63T>C Ile21Ile
M0026754 JAIGNABE_00020 22907 4 Skin 0.02 protein_coding synonymous_variant LOW 915C>T Ala305Ala
M0026755 JAIGNABE_00007 6788 19 Skin 0.08 protein_coding synonymous_variant LOW 474A>G Ala158Ala
M0026756 JAIGNABE_00007 7109 9 Skin 0.04 protein_coding synonymous_variant LOW 795G>A Gln265Gln
M0026757 JAIGNABE_00007 7163 11 Skin 0.05 protein_coding synonymous_variant LOW 849G>A Gly283Gly
M0026758 JAIGNABE_00007 7181 5 Skin 0.02 protein_coding synonymous_variant LOW 867C>T Pro289Pro
M0026759 JAIGNABE_00008 7228 6 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -83C>A None
M0026760 JAIGNABE_00008 7229 7 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -82C>T None
M0026761 JAIGNABE_00008 7232 6 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -79C>T None
M0026762 JAIGNABE_00008 7238 6 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -73A>G None
M0026763 JAIGNABE_00008 7269 11 Skin 0.05 protein_coding upstream_gene_variant MODIFIER -42T>C None
M0026764 JAIGNABE_00009 7533 4 Skin 0.02 protein_coding missense_variant MODERATE 41C>T Ala14Val
M0026765 JAIGNABE_00009 7572 11 Skin 0.05 protein_coding missense_variant MODERATE 80G>A Gly27Asp
M0026766 JAIGNABE_00009 7771 5 Skin 0.02 protein_coding synonymous_variant LOW 279A>G Val93Val
M0026767 JAIGNABE_00009 7805 3 Skin 0.01 protein_coding missense_variant MODERATE 313G>A Asp105Asn
M0026768 JAIGNABE_00009 7811 4 Skin 0.02 protein_coding missense_variant MODERATE 319C>A Pro107Thr
M0026769 JAIGNABE_00009 7894 4 Skin 0.02 protein_coding synonymous_variant LOW 402A>T Arg134Arg
M0026770 JAIGNABE_00009 7897 4 Skin 0.02 protein_coding synonymous_variant LOW 405C>T Val135Val
M0026771 JAIGNABE_00010 8190 5 Skin 0.02 protein_coding synonymous_variant LOW 207T>A Ala69Ala
M0026772 JAIGNABE_00010 8279 5 Skin 0.02 protein_coding missense_variant MODERATE 296A>C Glu99Ala
M0026773 JAIGNABE_00012 14079 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -98T>C None
M0026774 JAIGNABE_00014 15501 20 Skin 0.08 protein_coding missense_variant MODERATE 1027A>G Ile343Val
M0026775 JAIGNABE_00014 15521 20 Skin 0.08 protein_coding synonymous_variant LOW 1047A>G Leu349Leu
M0026776 JAIGNABE_00014 15554 4 Skin 0.02 protein_coding synonymous_variant LOW 1080C>T Asp360Asp
M0026777 JAIGNABE_00014 15608 3 Skin 0.01 protein_coding synonymous_variant LOW 1134C>T Phe378Phe
M0026778 JAIGNABE_00015 16505 10 Skin 0.04 protein_coding synonymous_variant LOW 147A>G Thr49Thr
M0026779 JAIGNABE_00012 16974 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -2993C>T None
M0026780 JAIGNABE_00016 17342 6 Skin 0.03 protein_coding synonymous_variant LOW 2281T>C Leu761Leu
M0026781 JAIGNABE_00016 17361 6 Skin 0.03 protein_coding synonymous_variant LOW 2262G>A Glu754Glu
M0026782 JAIGNABE_00016 17376 6 Skin 0.03 protein_coding synonymous_variant LOW 2247C>A Gly749Gly
M0026783 JAIGNABE_00016 17394 5 Skin 0.02 protein_coding synonymous_variant LOW 2229T>C Gly743Gly
M0026784 JAIGNABE_00016 17586 6 Skin 0.03 protein_coding synonymous_variant LOW 2037G>A Ala679Ala
M0026785 JAIGNABE_00016 17598 4 Skin 0.02 protein_coding missense_variant MODERATE 2025T>A His675Gln
M0026786 JAIGNABE_00016 17599 4 Skin 0.02 protein_coding missense_variant MODERATE 2024A>G His675Arg
M0026787 JAIGNABE_00016 17601 4 Skin 0.02 protein_coding synonymous_variant LOW 2022C>T Asn674Asn
M0026788 JAIGNABE_00016 17613 4 Skin 0.02 protein_coding synonymous_variant LOW 2010A>G Arg670Arg
M0026789 JAIGNABE_00016 17622 4 Skin 0.02 protein_coding synonymous_variant LOW 2001C>T Ala667Ala
M0026790 JAIGNABE_00016 17624 4 Skin 0.02 protein_coding missense_variant MODERATE 1999G>A Ala667Thr
M0026791 JAIGNABE_00016 17627 4 Skin 0.02 protein_coding missense_variant MODERATE 1996G>T Ala666Ser
M0026792 JAIGNABE_00016 17628 4 Skin 0.02 protein_coding synonymous_variant LOW 1995G>A Thr665Thr
M0026793 JAIGNABE_00016 17652 6 Skin 0.03 protein_coding synonymous_variant LOW 1971T>C Asp657Asp
M0026794 JAIGNABE_00016 17664 4 Skin 0.02 protein_coding synonymous_variant LOW 1959T>C Ser653Ser
M0026795 JAIGNABE_00016 17669 4 Skin 0.02 protein_coding missense_variant MODERATE 1954G>A Val652Ile
M0026796 JAIGNABE_00016 17679 4 Skin 0.02 protein_coding synonymous_variant LOW 1944C>T Ser648Ser
M0026797 JAIGNABE_00016 17685 4 Skin 0.02 protein_coding synonymous_variant LOW 1938A>G Glu646Glu
M0026798 JAIGNABE_00016 17690 4 Skin 0.02 protein_coding missense_variant MODERATE 1933G>A Val645Ile
M0026799 JAIGNABE_00016 17708 4 Skin 0.02 protein_coding missense_variant MODERATE 1915A>G Thr639Ala
M0026800 JAIGNABE_00016 18406 12 Skin 0.05 protein_coding missense_variant MODERATE 1217A>G His406Arg
M0026801 JAIGNABE_00016 18759 9 Skin 0.04 protein_coding synonymous_variant LOW 864G>A Gly288Gly
M0026802 JAIGNABE_00016 18762 9 Skin 0.04 protein_coding synonymous_variant LOW 861C>T Ser287Ser
M0026803 JAIGNABE_00016 18846 7 Skin 0.03 protein_coding synonymous_variant LOW 777G>T Gly259Gly
M0026804 JAIGNABE_00016 19366 10 Skin 0.04 protein_coding missense_variant MODERATE 257T>C Leu86Pro
M0026805 JAIGNABE_00016 23824 12 Skin 0.05 protein_coding upstream_gene_variant MODIFIER -4202T>G None
M0026806 JAIGNABE_00016 23869 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -4247C>T None
M0026807 JAIGNABE_00016 23920 7 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4298T>G None
M0026808 JAIGNABE_00016 23935 5 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -4313A>G None
M0026809 JAIGNABE_00016 23966 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -4344T>C None
M0026810 JAIGNABE_00016 23969 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -4347A>G None
M0026811 JAIGNABE_00016 23971 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -4349T>C None
M0026812 JAIGNABE_00016 23992 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -4370G>A None
M0026813 JAIGNABE_00016 24050 6 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4428A>G None
M0026814 JAIGNABE_00021 24488 3 Skin 0.01 protein_coding missense_variant MODERATE 292A>G Lys98Glu
M0026815 JAIGNABE_00021 24489 3 Skin 0.01 protein_coding missense_variant MODERATE 293A>C Lys98Thr
M0026816 JAIGNABE_00021 24490 3 Skin 0.01 protein_coding missense_variant MODERATE 294G>C Lys98Asn
M0026817 JAIGNABE_00021 24496 3 Skin 0.01 protein_coding synonymous_variant LOW 300G>C Leu100Leu
M0026818 JAIGNABE_00021 24497 3 Skin 0.01 protein_coding missense_variant MODERATE 301C>A Gln101Lys
M0026819 JAIGNABE_00021 24502 7 Skin 0.03 protein_coding synonymous_variant LOW 306T>C Gly102Gly
M0026820 JAIGNABE_00021 24506 3 Skin 0.01 protein_coding missense_variant MODERATE 310C>G Gln104Glu
M0026821 JAIGNABE_00021 24517 3 Skin 0.01 protein_coding synonymous_variant LOW 321C>T Gly107Gly
M0026822 JAIGNABE_00021 24527 3 Skin 0.01 protein_coding missense_variant MODERATE 331A>G Ile111Val
M0026823 JAIGNABE_00017 25189 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -4779A>G None
M0026824 JAIGNABE_00017 25295 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -4885G>A None
M0026825 JAIGNABE_00018 25414 7 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -3932C>T None
M0026826 JAIGNABE_00018 25466 7 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -3984A>G None
M0026827 JAIGNABE_00018 25499 8 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4017C>T None
M0026828 JAIGNABE_00018 25787 8 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4305A>G None
M0026829 JAIGNABE_00018 25933 7 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4451G>A None
M0026830 JAIGNABE_00022 26020 8 Skin 0.03 protein_coding missense_variant MODERATE 242A>C Asp81Ala
M0026831 JAIGNABE_00022 26049 8 Skin 0.03 protein_coding synonymous_variant LOW 213T>C Ala71Ala
M0026832 JAIGNABE_00022 26090 10 Skin 0.04 protein_coding missense_variant MODERATE 172C>A Pro58Thr
M0026833 JAIGNABE_00022 26103 10 Skin 0.04 protein_coding synonymous_variant LOW 159G>C Thr53Thr
M0026834 JAIGNABE_00022 26117 10 Skin 0.04 protein_coding missense_variant MODERATE 145C>A Pro49Thr
M0026835 JAIGNABE_00022 26131 6 Skin 0.03 protein_coding missense_variant MODERATE 131A>G Lys44Arg
M0026836 JAIGNABE_00004 3306 4 Skin 0.02 protein_coding synonymous_variant LOW 270C>T Gly90Gly
M0026837 JAIGNABE_00004 3387 5 Skin 0.02 protein_coding synonymous_variant LOW 351T>C Asp117Asp
M0026838 JAIGNABE_00004 3468 4 Skin 0.02 protein_coding synonymous_variant LOW 432T>C Ser144Ser
M0026839 JAIGNABE_00004 3477 5 Skin 0.02 protein_coding synonymous_variant LOW 441G>A Ala147Ala
M0026840 JAIGNABE_00005 4145 3 Skin 0.01 protein_coding synonymous_variant LOW 261C>T Ser87Ser
M0026841 JAIGNABE_00005 4406 4 Skin 0.02 protein_coding synonymous_variant LOW 522C>T Ser174Ser
M0026842 JAIGNABE_00007 6360 3 Skin 0.01 protein_coding synonymous_variant LOW 46C>T Leu16Leu
M0026843 JAIGNABE_00007 6494 3 Skin 0.01 protein_coding synonymous_variant LOW 180C>T Leu60Leu
M0026844 JAIGNABE_00007 6566 3 Skin 0.01 protein_coding synonymous_variant LOW 252T>C Ala84Ala
M0026845 JAIGNABE_00007 6674 8 Skin 0.03 protein_coding synonymous_variant LOW 360G>A Gly120Gly
M0026846 JAIGNABE_00007 7106 4 Skin 0.02 protein_coding synonymous_variant LOW 792C>T Ala264Ala
M0026847 JAIGNABE_00009 7532 4 Skin 0.02 protein_coding missense_variant MODERATE 40G>A Ala14Thr
M0026848 JAIGNABE_00009 7631 4 Skin 0.02 protein_coding missense_variant MODERATE 139C>T Arg47Cys
M0026849 JAIGNABE_00009 7787 4 Skin 0.02 protein_coding synonymous_variant LOW 295T>C Leu99Leu
M0026850 JAIGNABE_00007 6693 4 Skin 0.02 protein_coding missense_variant MODERATE 379C>T Leu127Phe
M0026851 JAIGNABE_00011 8678 4 Skin 0.02 protein_coding synonymous_variant LOW 183G>A Ala61Ala
M0026852 JAIGNABE_00011 9809 12 Skin 0.05 protein_coding synonymous_variant LOW 1314T>C Ala438Ala
M0026853 JAIGNABE_00011 9814 12 Skin 0.05 protein_coding missense_variant MODERATE 1319A>C His440Pro
M0026854 JAIGNABE_00011 9819 3 Skin 0.01 protein_coding missense_variant MODERATE 1324C>G Pro442Ala
M0026855 JAIGNABE_00011 9845 3 Skin 0.01 protein_coding synonymous_variant LOW 1350C>T Thr450Thr
M0026856 JAIGNABE_00011 9930 3 Skin 0.01 protein_coding missense_variant MODERATE 1435T>C Ser479Pro
M0026857 JAIGNABE_00011 10486 14 Skin 0.06 protein_coding missense_variant MODERATE 1991G>A Arg664His
M0026858 JAIGNABE_00011 10607 8 Skin 0.03 protein_coding missense_variant MODERATE 2112A>T Glu704Asp
M0026859 JAIGNABE_00011 10674 4 Skin 0.02 protein_coding missense_variant MODERATE 2179T>C Cys727Arg
M0026860 JAIGNABE_00011 10687 7 Skin 0.03 protein_coding missense_variant MODERATE 2192A>G Glu731Gly
M0026861 JAIGNABE_00011 10761 4 Skin 0.02 protein_coding missense_variant MODERATE 2266C>T Leu756Phe
M0026862 JAIGNABE_00011 10826 15 Skin 0.06 protein_coding synonymous_variant LOW 2331T>C Pro777Pro
M0026863 JAIGNABE_00011 10996 8 Skin 0.03 protein_coding missense_variant MODERATE 2501A>C Gln834Pro
M0026864 JAIGNABE_00011 11012 9 Skin 0.04 protein_coding synonymous_variant LOW 2517A>C Arg839Arg
M0026865 JAIGNABE_00011 11052 9 Skin 0.04 protein_coding missense_variant MODERATE 2557G>A Val853Met
M0026866 JAIGNABE_00011 11114 10 Skin 0.04 protein_coding synonymous_variant LOW 2619C>T Ala873Ala
M0026867 JAIGNABE_00011 11168 10 Skin 0.04 protein_coding synonymous_variant LOW 2673T>C Val891Val
M0026868 JAIGNABE_00011 11257 6 Skin 0.03 protein_coding missense_variant MODERATE 2762C>T Thr921Ile
M0026869 JAIGNABE_00011 11276 6 Skin 0.03 protein_coding synonymous_variant LOW 2781C>T Val927Val
M0026870 JAIGNABE_00011 11307 10 Skin 0.04 protein_coding synonymous_variant LOW 2812T>C Leu938Leu
M0026871 JAIGNABE_00012 12701 3 Skin 0.01 protein_coding synonymous_variant LOW 1281C>T Gly427Gly
M0026872 JAIGNABE_00012 13240 7 Skin 0.03 protein_coding missense_variant MODERATE 742T>C Phe248Leu
M0026873 JAIGNABE_00012 13265 7 Skin 0.03 protein_coding synonymous_variant LOW 717G>T Leu239Leu
M0026874 JAIGNABE_00012 13651 6 Skin 0.03 protein_coding missense_variant MODERATE 331T>C Ser111Pro
M0026875 JAIGNABE_00012 13682 6 Skin 0.03 protein_coding synonymous_variant LOW 300A>G Val100Val
M0026876 JAIGNABE_00014 14576 8 Skin 0.03 protein_coding synonymous_variant LOW 102C>T Gly34Gly
M0026877 JAIGNABE_00014 14598 8 Skin 0.03 protein_coding synonymous_variant LOW 124C>T Leu42Leu
M0026878 JAIGNABE_00014 14762 3 Skin 0.01 protein_coding synonymous_variant LOW 288C>T Pro96Pro
M0026879 JAIGNABE_00014 14792 13 Skin 0.05 protein_coding synonymous_variant LOW 318C>A Gly106Gly
M0026880 JAIGNABE_00014 14948 15 Skin 0.06 protein_coding synonymous_variant LOW 474A>G Pro158Pro
M0026881 JAIGNABE_00014 14988 9 Skin 0.04 protein_coding synonymous_variant LOW 514C>A Arg172Arg
M0026882 JAIGNABE_00014 15020 6 Skin 0.03 protein_coding synonymous_variant LOW 546A>G Gly182Gly
M0026883 JAIGNABE_00014 15308 8 Skin 0.03 protein_coding synonymous_variant LOW 834A>G Gly278Gly
M0026884 JAIGNABE_00014 15704 17 Skin 0.07 protein_coding synonymous_variant LOW 1230C>T His410His
M0026885 JAIGNABE_00014 15740 15 Skin 0.06 protein_coding synonymous_variant LOW 1266C>T Asn422Asn
M0026886 JAIGNABE_00014 15773 7 Skin 0.03 protein_coding synonymous_variant LOW 1299C>T Asp433Asp
M0026887 JAIGNABE_00015 16278 3 Skin 0.01 protein_coding missense_variant MODERATE 374A>G Asp125Gly
M0026888 JAIGNABE_00015 16303 7 Skin 0.03 protein_coding synonymous_variant LOW 349C>T Leu117Leu
M0026889 JAIGNABE_00016 18303 5 Skin 0.02 protein_coding synonymous_variant LOW 1320G>A Lys440Lys
M0026890 JAIGNABE_00016 18390 3 Skin 0.01 protein_coding synonymous_variant LOW 1233A>G Ala411Ala
M0026891 JAIGNABE_00016 18417 4 Skin 0.02 protein_coding synonymous_variant LOW 1206G>A Val402Val
M0026892 JAIGNABE_00003 2606 4 Skin 0.02 protein_coding missense_variant MODERATE 106G>A Ala36Thr
M0026893 JAIGNABE_00003 2854 3 Skin 0.01 protein_coding synonymous_variant LOW 354C>G Val118Val
M0026894 JAIGNABE_00003 2885 3 Skin 0.01 protein_coding missense_variant MODERATE 385A>G Thr129Ala
M0026895 JAIGNABE_00003 2974 3 Skin 0.01 protein_coding synonymous_variant LOW 474C>T Ser158Ser
M0026896 JAIGNABE_00004 3060 4 Skin 0.02 protein_coding synonymous_variant LOW 24T>C Ser8Ser
M0026897 JAIGNABE_00004 3078 3 Skin 0.01 protein_coding synonymous_variant LOW 42C>T Gly14Gly
M0026898 JAIGNABE_00004 3147 4 Skin 0.02 protein_coding synonymous_variant LOW 111A>G Pro37Pro
M0026899 JAIGNABE_00004 3156 4 Skin 0.02 protein_coding synonymous_variant LOW 120T>C Cys40Cys
M0026900 JAIGNABE_00004 3375 5 Skin 0.02 protein_coding synonymous_variant LOW 339C>T Pro113Pro
M0026901 JAIGNABE_00004 3516 4 Skin 0.02 protein_coding synonymous_variant LOW 480G>A Leu160Leu
M0026902 JAIGNABE_00004 3588 5 Skin 0.02 protein_coding synonymous_variant LOW 552C>T Arg184Arg
M0026903 JAIGNABE_00011 9963 6 Skin 0.03 protein_coding missense_variant MODERATE 1468C>T Pro490Ser
M0026904 JAIGNABE_00011 12056 3 Skin 0.01 protein_coding synonymous_variant LOW 3561C>T Ala1187Ala
M0026905 JAIGNABE_00014 15281 5 Skin 0.02 protein_coding synonymous_variant LOW 807C>T Ala269Ala
M0026906 JAIGNABE_00014 15905 4 Skin 0.02 protein_coding synonymous_variant LOW 1431C>T Asp477Asp
M0026907 JAIGNABE_00014 15980 5 Skin 0.02 protein_coding synonymous_variant LOW 1506C>T His502His
M0026908 JAIGNABE_00015 16615 5 Skin 0.02 protein_coding missense_variant MODERATE 37T>C Ser13Pro
M0026909 JAIGNABE_00016 17352 3 Skin 0.01 protein_coding synonymous_variant LOW 2271C>T Arg757Arg
M0026910 JAIGNABE_00018 21198 4 Skin 0.02 protein_coding synonymous_variant LOW 285T>C Ala95Ala
M0026911 JAIGNABE_00019 21727 3 Skin 0.01 protein_coding missense_variant MODERATE 584A>G Asp195Gly
M0026912 JAIGNABE_00020 22412 5 Skin 0.02 protein_coding synonymous_variant LOW 1410G>A Glu470Glu
M0026913 JAIGNABE_00016 24061 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -4439G>A None
M0026914 JAIGNABE_00016 24074 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -4452T>C None
M0026915 JAIGNABE_00021 24262 3 Skin 0.01 protein_coding synonymous_variant LOW 66G>A Glu22Glu
M0026916 JAIGNABE_00021 24268 3 Skin 0.01 protein_coding synonymous_variant LOW 72C>A Gly24Gly
M0026917 JAIGNABE_00021 24301 3 Skin 0.01 protein_coding synonymous_variant LOW 105G>C Ala35Ala
M0026918 JAIGNABE_00021 24313 3 Skin 0.01 protein_coding synonymous_variant LOW 117G>A Glu39Glu
M0026919 JAIGNABE_00021 24516 4 Skin 0.02 protein_coding missense_variant MODERATE 320G>A Gly107Asp
M0026920 JAIGNABE_00021 24535 4 Skin 0.02 protein_coding synonymous_variant LOW 339C>T Phe113Phe
M0026921 JAIGNABE_00021 25018 7 Skin 0.03 protein_coding synonymous_variant LOW 822T>C Ala274Ala
M0026922 JAIGNABE_00018 25863 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -4381G>C None
M0026923 JAIGNABE_00018 25866 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -4384C>T None
M0026924 JAIGNABE_00018 25869 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -4387G>C None
M0026925 JAIGNABE_00018 25874 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -4392T>C None
M0026926 JAIGNABE_00018 25879 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -4397G>A None
M0026927 JAIGNABE_00018 25894 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -4412T>C None
M0026928 JAIGNABE_00003 3016 21 Skin 0.09 protein_coding synonymous_variant LOW 516T>C Ala172Ala
M0026929 JAIGNABE_00007 6642 5 Skin 0.02 protein_coding synonymous_variant LOW 328C>T Leu110Leu
M0026930 JAIGNABE_00011 9331 5 Skin 0.02 protein_coding missense_variant MODERATE 836C>T Ala279Val
M0026931 JAIGNABE_00011 9458 6 Skin 0.03 protein_coding synonymous_variant LOW 963T>C Thr321Thr
M0026932 JAIGNABE_00011 9888 7 Skin 0.03 protein_coding missense_variant MODERATE 1393C>T Pro465Ser
M0026933 JAIGNABE_00003 2902 20 Skin 0.08 protein_coding synonymous_variant LOW 402C>T Val134Val
M0026934 JAIGNABE_00003 2941 20 Skin 0.08 protein_coding synonymous_variant LOW 441C>T Asp147Asp
M0026935 JAIGNABE_00003 2953 20 Skin 0.08 protein_coding synonymous_variant LOW 453C>T Asp151Asp
M0026936 JAIGNABE_00003 2969 20 Skin 0.08 protein_coding missense_variant MODERATE 469G>C Glu157Gln
M0026937 JAIGNABE_00003 2980 21 Skin 0.09 protein_coding synonymous_variant LOW 480C>T Ala160Ala
M0026938 JAIGNABE_00003 2995 20 Skin 0.08 protein_coding synonymous_variant LOW 495T>G Leu165Leu
M0026939 JAIGNABE_00003 2998 20 Skin 0.08 protein_coding synonymous_variant LOW 498C>T Ser166Ser
M0026940 JAIGNABE_00003 3003 20 Skin 0.08 protein_coding missense_variant MODERATE 503G>A Arg168Gln
M0026941 JAIGNABE_00001 743 3 Skin 0.01 protein_coding synonymous_variant LOW 81A>G Ala27Ala
M0026942 JAIGNABE_00002 1124 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -327G>T None
M0026943 JAIGNABE_00002 1149 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -302T>C None
M0026944 JAIGNABE_00002 1162 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -289T>A None
M0026945 JAIGNABE_00011 11379 7 Skin 0.03 protein_coding missense_variant MODERATE 2884C>T Leu962Phe
M0026946 JAIGNABE_00013 12496 5 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -1652T>C None
M0026947 JAIGNABE_00013 12621 5 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -1527C>T None
M0026948 JAIGNABE_00012 12646 5 Skin 0.02 protein_coding missense_variant MODERATE 1336A>G Lys446Glu
M0026949 JAIGNABE_00012 13184 6 Skin 0.03 protein_coding synonymous_variant LOW 798C>T Gly266Gly
M0026950 JAIGNABE_00014 14678 10 Skin 0.04 protein_coding synonymous_variant LOW 204C>G Gly68Gly
M0026951 JAIGNABE_00014 15080 5 Skin 0.02 protein_coding synonymous_variant LOW 606C>T Val202Val
M0026952 JAIGNABE_00014 15551 7 Skin 0.03 protein_coding synonymous_variant LOW 1077G>A Glu359Glu
M0026953 JAIGNABE_00014 15785 8 Skin 0.03 protein_coding synonymous_variant LOW 1311G>A Gln437Gln
M0026954 JAIGNABE_00015 16313 10 Skin 0.04 protein_coding synonymous_variant LOW 339C>T Asp113Asp
M0026955 JAIGNABE_00015 16371 5 Skin 0.02 protein_coding missense_variant MODERATE 281G>A Gly94Glu
M0026956 JAIGNABE_00015 16561 7 Skin 0.03 protein_coding missense_variant MODERATE 91G>C Val31Leu
M0026957 JAIGNABE_00015 16575 6 Skin 0.03 protein_coding missense_variant MODERATE 77C>T Thr26Ile
M0026958 JAIGNABE_00015 16622 12 Skin 0.05 protein_coding synonymous_variant LOW 30A>G Gly10Gly
M0026959 JAIGNABE_00015 16628 5 Skin 0.02 protein_coding synonymous_variant LOW 24T>C Gly8Gly
M0026960 JAIGNABE_00015 16632 5 Skin 0.02 protein_coding missense_variant MODERATE 20C>T Pro7Leu
M0026961 JAIGNABE_00016 18339 6 Skin 0.03 protein_coding synonymous_variant LOW 1284C>T Leu428Leu
M0026962 JAIGNABE_00016 18345 6 Skin 0.03 protein_coding synonymous_variant LOW 1278G>A Ala426Ala
M0026963 JAIGNABE_00016 18359 10 Skin 0.04 protein_coding missense_variant MODERATE 1264C>T Leu422Phe
M0026964 JAIGNABE_00016 18360 10 Skin 0.04 protein_coding synonymous_variant LOW 1263C>A Ile421Ile
M0026965 JAIGNABE_00016 18394 7 Skin 0.03 protein_coding missense_variant MODERATE 1229T>A Leu410Gln
M0026966 JAIGNABE_00016 18399 8 Skin 0.03 protein_coding missense_variant MODERATE 1224C>G Asp408Glu
M0026967 JAIGNABE_00016 18486 9 Skin 0.04 protein_coding synonymous_variant LOW 1137T>C Arg379Arg
M0026968 JAIGNABE_00016 18747 7 Skin 0.03 protein_coding synonymous_variant LOW 876C>T Arg292Arg
M0026969 JAIGNABE_00017 19898 6 Skin 0.03 protein_coding synonymous_variant LOW 513C>A Arg171Arg
M0026970 JAIGNABE_00017 19901 6 Skin 0.03 protein_coding synonymous_variant LOW 510A>G Gln170Gln
M0026971 JAIGNABE_00018 21219 3 Skin 0.01 protein_coding synonymous_variant LOW 264C>T Asp88Asp
M0026972 JAIGNABE_00018 21453 5 Skin 0.02 protein_coding synonymous_variant LOW 30C>T Val10Val
M0026973 JAIGNABE_00019 21768 5 Skin 0.02 protein_coding missense_variant MODERATE 543G>T Gln181His
M0026974 JAIGNABE_00019 21804 5 Skin 0.02 protein_coding synonymous_variant LOW 507G>T Arg169Arg
M0026975 JAIGNABE_00019 21851 5 Skin 0.02 protein_coding missense_variant MODERATE 460G>T Ala154Ser
M0026976 JAIGNABE_00019 22092 5 Skin 0.02 protein_coding synonymous_variant LOW 219G>T Ala73Ala
M0026977 JAIGNABE_00019 22221 5 Skin 0.02 protein_coding synonymous_variant LOW 90C>T Gly30Gly
M0026978 JAIGNABE_00019 22236 5 Skin 0.02 protein_coding synonymous_variant LOW 75C>T Phe25Phe
M0026979 JAIGNABE_00021 24444 3 Skin 0.01 protein_coding missense_variant MODERATE 248C>A Ala83Asp
M0026980 JAIGNABE_00021 24445 3 Skin 0.01 protein_coding synonymous_variant LOW 249C>T Ala83Ala
M0026981 JAIGNABE_00021 24448 3 Skin 0.01 protein_coding missense_variant MODERATE 252C>G Asp84Glu
M0026982 JAIGNABE_00021 24455 3 Skin 0.01 protein_coding missense_variant MODERATE 259G>A Gly87Ser
M0026983 JAIGNABE_00021 24456 3 Skin 0.01 protein_coding missense_variant MODERATE 260G>C Gly87Ala
M0026984 JAIGNABE_00018 25428 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -3946C>T None
M0026985 JAIGNABE_00018 25632 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -4150T>C None
M0026986 JAIGNABE_00005 5207 4 Skin 0.02 protein_coding synonymous_variant LOW 1323G>T Ala441Ala
M0026987 JAIGNABE_00001 708 3 Skin 0.01 protein_coding missense_variant MODERATE 46C>T Leu16Phe
M0026988 JAIGNABE_00002 1971 7 Skin 0.03 protein_coding missense_variant MODERATE 521T>C Val174Ala
M0026989 JAIGNABE_00003 2265 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -236G>A None
M0026990 JAIGNABE_00003 2899 3 Skin 0.01 protein_coding synonymous_variant LOW 399A>G Gly133Gly
M0026991 JAIGNABE_00014 15701 6 Skin 0.03 protein_coding synonymous_variant LOW 1227T>C Ala409Ala
M0026992 JAIGNABE_00012 16681 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -2700C>T None
M0026993 JAIGNABE_00012 16701 6 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -2720C>G None
M0026994 JAIGNABE_00012 16703 6 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -2722A>G None
M0026995 JAIGNABE_00015 20597 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -3946G>A None
M0026996 JAIGNABE_00020 22541 5 Skin 0.02 protein_coding synonymous_variant LOW 1281C>T Gly427Gly
M0026997 JAIGNABE_00020 22556 5 Skin 0.02 protein_coding synonymous_variant LOW 1266T>G Val422Val
M0026998 JAIGNABE_00020 22568 4 Skin 0.02 protein_coding synonymous_variant LOW 1254C>T Ala418Ala
M0026999 JAIGNABE_00007 6493 4 Skin 0.02 protein_coding missense_variant MODERATE 179T>C Leu60Pro
M0027000 JAIGNABE_00007 7170 3 Skin 0.01 protein_coding synonymous_variant LOW 856C>T Leu286Leu
M0027001 JAIGNABE_00011 9311 3 Skin 0.01 protein_coding synonymous_variant LOW 816G>C Thr272Thr
M0027002 JAIGNABE_00011 11437 8 Skin 0.03 protein_coding missense_variant MODERATE 2942G>A Ser981Asn
M0027003 JAIGNABE_00013 12377 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -1771A>C None
M0027004 JAIGNABE_00013 12570 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -1578G>A None
M0027005 JAIGNABE_00012 12828 3 Skin 0.01 protein_coding missense_variant MODERATE 1154T>C Val385Ala
M0027006 JAIGNABE_00012 13040 3 Skin 0.01 protein_coding synonymous_variant LOW 942C>T Ala314Ala
M0027007 JAIGNABE_00012 13297 8 Skin 0.03 protein_coding missense_variant MODERATE 685G>A Ala229Thr
M0027008 JAIGNABE_00013 14226 3 Skin 0.01 protein_coding missense_variant MODERATE 79C>G Leu27Val
M0027009 JAIGNABE_00015 16618 6 Skin 0.03 protein_coding missense_variant MODERATE 34A>G Thr12Ala
M0027010 JAIGNABE_00015 16620 6 Skin 0.03 protein_coding missense_variant MODERATE 32C>T Ala11Val
M0027011 JAIGNABE_00012 16762 6 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -2781G>A None
M0027012 JAIGNABE_00012 16777 6 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -2796C>G None
M0027013 JAIGNABE_00012 16787 6 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -2806T>C None
M0027014 JAIGNABE_00016 19462 6 Skin 0.03 protein_coding missense_variant MODERATE 161G>A Arg54Lys
M0027015 JAIGNABE_00002 1402 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -49G>A None
M0027016 JAIGNABE_00002 1403 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -48G>A None
M0027017 JAIGNABE_00002 2068 4 Skin 0.02 protein_coding synonymous_variant LOW 618G>A Glu206Glu
M0027018 JAIGNABE_00002 2077 4 Skin 0.02 protein_coding synonymous_variant LOW 627G>A Ala209Ala
M0027019 JAIGNABE_00002 2110 8 Skin 0.03 protein_coding synonymous_variant LOW 660C>G Gly220Gly
M0027020 JAIGNABE_00002 2119 7 Skin 0.03 protein_coding synonymous_variant LOW 669T>C His223His
M0027021 JAIGNABE_00002 2123 8 Skin 0.03 protein_coding missense_variant MODERATE 673T>C Ser225Pro
M0027022 JAIGNABE_00003 2187 9 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -314A>G None
M0027023 JAIGNABE_00003 2204 9 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -297C>G None
M0027024 JAIGNABE_00003 2206 7 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -295A>G None
M0027025 JAIGNABE_00003 2247 6 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -254C>T None
M0027026 JAIGNABE_00003 2258 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -243G>A None
M0027027 JAIGNABE_00003 2268 6 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -233C>T None
M0027028 JAIGNABE_00003 2275 6 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -226A>G None
M0027029 JAIGNABE_00003 2313 6 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -188A>G None
M0027030 JAIGNABE_00003 2320 6 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -181G>A None
M0027031 JAIGNABE_00003 2332 7 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -169G>C None
M0027032 JAIGNABE_00003 2345 6 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -156A>G None
M0027033 JAIGNABE_00003 2347 6 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -154C>T None
M0027034 JAIGNABE_00003 2371 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -130C>T None
M0027035 JAIGNABE_00003 2825 4 Skin 0.02 protein_coding missense_variant MODERATE 325G>C Ala109Pro
M0027036 JAIGNABE_00010 8327 3 Skin 0.01 protein_coding missense_variant MODERATE 344T>C Leu115Pro
M0027037 JAIGNABE_00011 11211 8 Skin 0.03 protein_coding missense_variant MODERATE 2716G>A Ala906Thr
M0027038 JAIGNABE_00011 11990 5 Skin 0.02 protein_coding synonymous_variant LOW 3495T>C Pro1165Pro
M0027039 JAIGNABE_00014 14931 3 Skin 0.01 protein_coding missense_variant MODERATE 457G>A Ala153Thr
M0027040 JAIGNABE_00014 15107 4 Skin 0.02 protein_coding synonymous_variant LOW 633G>A Ser211Ser
M0027041 JAIGNABE_00014 15119 4 Skin 0.02 protein_coding synonymous_variant LOW 645A>G Leu215Leu
M0027042 JAIGNABE_00016 18510 3 Skin 0.01 protein_coding synonymous_variant LOW 1113C>T Arg371Arg
M0027043 JAIGNABE_00016 18561 6 Skin 0.03 protein_coding synonymous_variant LOW 1062C>T Ala354Ala
M0027044 JAIGNABE_00016 18915 4 Skin 0.02 protein_coding missense_variant MODERATE 708T>G Asp236Glu
M0027045 JAIGNABE_00015 21595 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -4944T>C None
M0027046 JAIGNABE_00011 9744 3 Skin 0.01 protein_coding missense_variant MODERATE 1249G>T Ala417Ser
M0027047 JAIGNABE_00011 9749 3 Skin 0.01 protein_coding synonymous_variant LOW 1254T>C Ala418Ala
M0027048 JAIGNABE_00003 2827 3 Skin 0.01 protein_coding synonymous_variant LOW 327C>T Ala109Ala
M0027049 JAIGNABE_00005 4295 3 Skin 0.01 protein_coding synonymous_variant LOW 411G>A Gln137Gln
M0027050 JAIGNABE_00011 9755 4 Skin 0.02 protein_coding synonymous_variant LOW 1260T>C Ser420Ser
M0027051 JAIGNABE_00011 9757 4 Skin 0.02 protein_coding missense_variant MODERATE 1262A>G His421Arg
M0027052 JAIGNABE_00011 9777 3 Skin 0.01 protein_coding missense_variant MODERATE 1282G>A Val428Ile
M0027053 JAIGNABE_00011 9778 3 Skin 0.01 protein_coding missense_variant MODERATE 1283T>C Val428Ala
M0027054 JAIGNABE_00011 10413 3 Skin 0.01 protein_coding missense_variant MODERATE 1918G>A Val640Met
M0027055 JAIGNABE_00014 15239 3 Skin 0.01 protein_coding synonymous_variant LOW 765C>T Asn255Asn
M0027056 JAIGNABE_00018 21337 4 Skin 0.02 protein_coding missense_variant MODERATE 146T>C Ile49Thr
M0027057 JAIGNABE_00020 22778 4 Skin 0.02 protein_coding synonymous_variant LOW 1044A>G Gly348Gly
M0027058 JAIGNABE_00010 8435 3 Skin 0.01 protein_coding missense_variant MODERATE 452G>T Gly151Val
M0027059 JAIGNABE_00011 8628 3 Skin 0.01 protein_coding missense_variant MODERATE 133C>A Pro45Thr
M0027060 JAIGNABE_00004 3749 5 Skin 0.02 protein_coding missense_variant MODERATE 713C>T Thr238Met
M0027061 JAIGNABE_00005 4385 4 Skin 0.02 protein_coding missense_variant MODERATE 501G>C Glu167Asp
M0027062 JAIGNABE_00006 5418 5 Skin 0.02 protein_coding missense_variant MODERATE 80T>G Ile27Ser
M0027063 JAIGNABE_00006 6115 3 Skin 0.01 protein_coding synonymous_variant LOW 777C>G Leu259Leu
M0027064 JAIGNABE_00008 7254 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -57T>C None
M0027065 JAIGNABE_00009 7503 4 Skin 0.02 protein_coding missense_variant MODERATE 11T>C Leu4Pro
M0027066 JAIGNABE_00014 14732 4 Skin 0.02 protein_coding synonymous_variant LOW 258T>C Gly86Gly
M0027067 JAIGNABE_00006 6291 3 Skin 0.01 protein_coding missense_variant MODERATE 953C>T Ala318Val
M0027068 JAIGNABE_00019 22067 3 Skin 0.01 protein_coding missense_variant MODERATE 244T>C Ser82Pro
M0027069 JAIGNABE_00006 5478 6 Skin 0.03 protein_coding missense_variant MODERATE 140T>C Val47Ala
M0027070 JAIGNABE_00006 6239 3 Skin 0.01 protein_coding missense_variant MODERATE 901C>T Pro301Ser
M0027071 JAIGNABE_00009 7831 3 Skin 0.01 protein_coding synonymous_variant LOW 339C>T Val113Val
M0027072 JAIGNABE_00011 9935 4 Skin 0.02 protein_coding synonymous_variant LOW 1440T>C Thr480Thr
M0027073 JAIGNABE_00011 9936 4 Skin 0.02 protein_coding missense_variant MODERATE 1441G>A Gly481Ser
M0027074 JAIGNABE_00011 9938 4 Skin 0.02 protein_coding synonymous_variant LOW 1443T>A Gly481Gly
M0027075 JAIGNABE_00011 9939 4 Skin 0.02 protein_coding missense_variant MODERATE 1444G>A Ala482Thr
M0027076 JAIGNABE_00011 9948 4 Skin 0.02 protein_coding missense_variant MODERATE 1453C>T Arg485Trp
M0027077 JAIGNABE_00011 9953 5 Skin 0.02 protein_coding missense_variant MODERATE 1458A>G Ile486Met
M0027078 JAIGNABE_00011 9961 5 Skin 0.02 protein_coding missense_variant MODERATE 1466T>C Val489Ala
M0027079 JAIGNABE_00011 9965 5 Skin 0.02 protein_coding synonymous_variant LOW 1470G>A Pro490Pro
M0027080 JAIGNABE_00011 9967 5 Skin 0.02 protein_coding missense_variant MODERATE 1472A>G Asp491Gly
M0027081 JAIGNABE_00011 10011 3 Skin 0.01 protein_coding missense_variant MODERATE 1516G>T Ala506Ser
M0027082 JAIGNABE_00006 5989 3 Skin 0.01 protein_coding synonymous_variant LOW 651C>T Arg217Arg
M0027083 JAIGNABE_00004 3300 3 Skin 0.01 protein_coding synonymous_variant LOW 264G>A Gly88Gly
M0027084 JAIGNABE_00004 3465 3 Skin 0.01 protein_coding synonymous_variant LOW 429G>A Gln143Gln
M0027085 JAIGNABE_00004 3626 3 Skin 0.01 protein_coding missense_variant MODERATE 590C>T Pro197Leu
M0027086 JAIGNABE_00021 24853 3 Skin 0.01 protein_coding synonymous_variant LOW 657C>T Arg219Arg
M0027087 JAIGNABE_00021 24862 3 Skin 0.01 protein_coding synonymous_variant LOW 666C>T Ile222Ile
M0027088 JAIGNABE_00002 1801 5 Skin 0.02 protein_coding synonymous_variant LOW 351T>C Asn117Asn
M0027089 JAIGNABE_00002 1819 4 Skin 0.02 protein_coding synonymous_variant LOW 369T>C Ile123Ile
M0027090 JAIGNABE_00002 1822 5 Skin 0.02 protein_coding synonymous_variant LOW 372C>T Arg124Arg
M0027091 JAIGNABE_00002 1823 5 Skin 0.02 protein_coding synonymous_variant LOW 373T>C Leu125Leu
M0027092 JAIGNABE_00002 1858 5 Skin 0.02 protein_coding synonymous_variant LOW 408T>C Tyr136Tyr
M0027093 JAIGNABE_00002 1888 5 Skin 0.02 protein_coding synonymous_variant LOW 438T>C Leu146Leu
M0027094 JAIGNABE_00002 1927 5 Skin 0.02 protein_coding synonymous_variant LOW 477T>C Cys159Cys
M0027095 JAIGNABE_00002 1954 5 Skin 0.02 protein_coding synonymous_variant LOW 504T>C Pro168Pro
M0027096 JAIGNABE_00002 1979 5 Skin 0.02 protein_coding missense_variant MODERATE 529T>C Ser177Pro
M0027097 JAIGNABE_00003 2170 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -331A>G None
M0027098 JAIGNABE_00003 2172 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -329G>A None
M0027099 JAIGNABE_00011 11004 5 Skin 0.02 protein_coding missense_variant MODERATE 2509A>G Thr837Ala
M0027100 JAIGNABE_00012 13080 4 Skin 0.02 protein_coding missense_variant MODERATE 902T>A Phe301Tyr
M0027101 JAIGNABE_00011 8615 10 Skin 0.04 protein_coding synonymous_variant LOW 120A>G Ser40Ser
M0027102 JAIGNABE_00011 8633 9 Skin 0.04 protein_coding synonymous_variant LOW 138C>T Asp46Asp
M0027103 JAIGNABE_00001 113 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -550A>G None
M0027104 JAIGNABE_00005 4445 3 Skin 0.01 protein_coding missense_variant MODERATE 561G>T Glu187Asp
M0027105 JAIGNABE_00007 6809 3 Skin 0.01 protein_coding synonymous_variant LOW 495C>T Leu165Leu
M0027106 JAIGNABE_00010 8415 3 Skin 0.01 protein_coding synonymous_variant LOW 432T>C Asp144Asp
M0027107 JAIGNABE_00011 8972 3 Skin 0.01 protein_coding synonymous_variant LOW 477A>C Gly159Gly
M0027108 JAIGNABE_00011 9190 3 Skin 0.01 protein_coding missense_variant MODERATE 695T>C Val232Ala
M0027109 JAIGNABE_00006 5378 8 Skin 0.03 protein_coding missense_variant MODERATE 40A>G Thr14Ala
M0027110 JAIGNABE_00008 7284 5 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -27C>T None
M0027111 JAIGNABE_00011 9475 3 Skin 0.01 protein_coding missense_variant MODERATE 980C>T Pro327Leu
M0027112 JAIGNABE_00011 11984 4 Skin 0.02 protein_coding synonymous_variant LOW 3489C>T Ala1163Ala
M0027113 JAIGNABE_00016 18180 4 Skin 0.02 protein_coding synonymous_variant LOW 1443G>A Ser481Ser
M0027114 JAIGNABE_00016 19430 4 Skin 0.02 protein_coding missense_variant MODERATE 193A>G Ile65Val
M0027115 JAIGNABE_00016 19433 4 Skin 0.02 protein_coding missense_variant MODERATE 190G>C Ala64Pro
M0027116 JAIGNABE_00016 19436 4 Skin 0.02 protein_coding missense_variant MODERATE 187A>G Lys63Glu
M0027117 JAIGNABE_00016 19438 4 Skin 0.02 protein_coding missense_variant MODERATE 185C>G Thr62Ser
M0027118 JAIGNABE_00016 19444 4 Skin 0.02 protein_coding missense_variant MODERATE 179C>A Thr60Lys
M0027119 JAIGNABE_00011 10663 4 Skin 0.02 protein_coding missense_variant MODERATE 2168G>T Gly723Val
M0027120 JAIGNABE_00011 10670 4 Skin 0.02 protein_coding synonymous_variant LOW 2175G>A Ala725Ala
M0027121 JAIGNABE_00011 10972 4 Skin 0.02 protein_coding missense_variant MODERATE 2477C>T Thr826Ile
M0027122 JAIGNABE_00011 10991 4 Skin 0.02 protein_coding synonymous_variant LOW 2496A>G Ala832Ala
M0027123 JAIGNABE_00011 11009 4 Skin 0.02 protein_coding synonymous_variant LOW 2514C>G Ser838Ser
M0027124 JAIGNABE_00011 11013 4 Skin 0.02 protein_coding missense_variant MODERATE 2518G>C Ala840Pro
M0027125 JAIGNABE_00011 11330 4 Skin 0.02 protein_coding synonymous_variant LOW 2835A>G Gln945Gln
M0027126 JAIGNABE_00011 11471 3 Skin 0.01 protein_coding synonymous_variant LOW 2976G>A Gln992Gln
M0027127 JAIGNABE_00011 11481 3 Skin 0.01 protein_coding missense_variant MODERATE 2986A>G Ser996Gly
M0027128 JAIGNABE_00011 11484 3 Skin 0.01 protein_coding missense_variant MODERATE 2989A>G Met997Val
M0027129 JAIGNABE_00011 11648 3 Skin 0.01 protein_coding synonymous_variant LOW 3153T>C Gly1051Gly
M0027130 JAIGNABE_00004 3459 3 Skin 0.01 protein_coding synonymous_variant LOW 423G>A Pro141Pro
M0027131 JAIGNABE_00002 1484 3 Skin 0.01 protein_coding missense_variant MODERATE 34T>G Ser12Ala
M0027132 JAIGNABE_00002 1528 4 Skin 0.02 protein_coding synonymous_variant LOW 78C>T Gly26Gly
M0027133 JAIGNABE_00002 1534 3 Skin 0.01 protein_coding synonymous_variant LOW 84C>T Gly28Gly
M0027134 JAIGNABE_00002 1550 4 Skin 0.02 protein_coding missense_variant MODERATE 100A>G Thr34Ala
M0027135 JAIGNABE_00002 1555 4 Skin 0.02 protein_coding synonymous_variant LOW 105C>T Pro35Pro
M0027136 JAIGNABE_00002 1573 3 Skin 0.01 protein_coding synonymous_variant LOW 123C>T Ser41Ser
M0027137 JAIGNABE_00002 1580 4 Skin 0.02 protein_coding missense_variant MODERATE 130G>C Ala44Pro
M0027138 JAIGNABE_00002 1588 4 Skin 0.02 protein_coding synonymous_variant LOW 138G>A Pro46Pro
M0027139 JAIGNABE_00002 1624 5 Skin 0.02 protein_coding synonymous_variant LOW 174A>G Pro58Pro
M0027140 JAIGNABE_00002 1636 3 Skin 0.01 protein_coding synonymous_variant LOW 186C>T Ser62Ser
M0027141 JAIGNABE_00002 1660 5 Skin 0.02 protein_coding synonymous_variant LOW 210C>T Gly70Gly
M0027142 JAIGNABE_00002 1758 3 Skin 0.01 protein_coding missense_variant MODERATE 308A>G Lys103Arg
M0027143 JAIGNABE_00002 1829 4 Skin 0.02 protein_coding synonymous_variant LOW 379C>T Leu127Leu
M0027144 JAIGNABE_00002 1844 3 Skin 0.01 protein_coding missense_variant MODERATE 394A>T Met132Leu
M0027145 JAIGNABE_00002 1874 3 Skin 0.01 protein_coding missense_variant MODERATE 424T>G Ser142Ala
M0027146 JAIGNABE_00002 1909 3 Skin 0.01 protein_coding synonymous_variant LOW 459C>T Leu153Leu
M0027147 JAIGNABE_00002 1960 3 Skin 0.01 protein_coding synonymous_variant LOW 510G>A Pro170Pro
M0027148 JAIGNABE_00002 1963 3 Skin 0.01 protein_coding synonymous_variant LOW 513G>A Ala171Ala
M0027149 JAIGNABE_00002 2005 3 Skin 0.01 protein_coding synonymous_variant LOW 555T>C His185His
M0027150 JAIGNABE_00002 2020 3 Skin 0.01 protein_coding synonymous_variant LOW 570G>A Glu190Glu
M0027151 JAIGNABE_00002 2021 3 Skin 0.01 protein_coding missense_variant MODERATE 571T>C Ser191Pro
M0027152 JAIGNABE_00002 2039 3 Skin 0.01 protein_coding missense_variant MODERATE 589A>G Ile197Val
M0027153 JAIGNABE_00002 2062 3 Skin 0.01 protein_coding synonymous_variant LOW 612T>C Val204Val
M0027154 JAIGNABE_00003 2173 5 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -328A>G None
M0027155 JAIGNABE_00003 2188 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -313T>C None
M0027156 JAIGNABE_00003 2357 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -144C>T None
M0027157 JAIGNABE_00003 2427 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -74G>A None
M0027158 JAIGNABE_00011 8913 3 Skin 0.01 protein_coding missense_variant MODERATE 418C>G Gln140Glu
M0027159 JAIGNABE_00011 9740 3 Skin 0.01 protein_coding synonymous_variant LOW 1245C>T His415His
M0027160 JAIGNABE_00007 6746 3 Skin 0.01 protein_coding synonymous_variant LOW 432G>A Leu144Leu
M0027161 JAIGNABE_00005 4782 4 Skin 0.02 protein_coding synonymous_variant LOW 898T>C Leu300Leu
M0027162 JAIGNABE_00011 12185 3 Skin 0.01 protein_coding synonymous_variant LOW 3690C>T Ala1230Ala
M0027163 JAIGNABE_00001 206 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -457C>G None
M0027164 JAIGNABE_00001 220 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -443T>C None
M0027165 JAIGNABE_00001 245 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -418A>G None
M0027166 JAIGNABE_00001 251 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -412G>A None
M0027167 JAIGNABE_00001 281 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -382G>C None
M0027168 JAIGNABE_00001 296 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -367G>A None
M0027169 JAIGNABE_00001 314 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -349C>T None
M0027170 JAIGNABE_00001 332 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -331C>T None
M0027171 JAIGNABE_00001 337 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -326G>T None
M0027172 JAIGNABE_00001 533 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -130G>A None
M0027173 JAIGNABE_00005 4691 3 Skin 0.01 protein_coding synonymous_variant LOW 807C>T Asp269Asp
M0027174 JAIGNABE_00007 6744 3 Skin 0.01 protein_coding synonymous_variant LOW 430C>T Leu144Leu
M0027175 JAIGNABE_00007 6758 3 Skin 0.01 protein_coding synonymous_variant LOW 444C>T Arg148Arg
M0027176 JAIGNABE_00007 6781 4 Skin 0.02 protein_coding missense_variant MODERATE 467T>C Val156Ala
M0027177 JAIGNABE_00007 6897 3 Skin 0.01 protein_coding missense_variant MODERATE 583A>G Ile195Val
M0027178 JAIGNABE_00007 7035 4 Skin 0.02 protein_coding synonymous_variant LOW 721T>C Leu241Leu
M0027179 JAIGNABE_00011 11014 3 Skin 0.01 protein_coding missense_variant MODERATE 2519C>A Ala840Asp
M0027180 JAIGNABE_00011 11217 3 Skin 0.01 protein_coding missense_variant MODERATE 2722C>T Pro908Ser
M0027181 JAIGNABE_00011 11501 3 Skin 0.01 protein_coding synonymous_variant LOW 3006C>T Asp1002Asp
M0027182 JAIGNABE_00012 12857 3 Skin 0.01 protein_coding synonymous_variant LOW 1125C>T Val375Val
M0027183 JAIGNABE_00012 13238 3 Skin 0.01 protein_coding synonymous_variant LOW 744C>T Phe248Phe
M0027184 JAIGNABE_00012 13502 5 Skin 0.02 protein_coding synonymous_variant LOW 480G>A Gly160Gly
M0027185 JAIGNABE_00014 15797 3 Skin 0.01 protein_coding synonymous_variant LOW 1323T>C Phe441Phe
M0027186 JAIGNABE_00016 18401 3 Skin 0.01 protein_coding missense_variant MODERATE 1222G>A Asp408Asn
M0027187 JAIGNABE_00016 18534 3 Skin 0.01 protein_coding synonymous_variant LOW 1089G>A Arg363Arg
M0027188 JAIGNABE_00016 18585 3 Skin 0.01 protein_coding synonymous_variant LOW 1038C>T Gly346Gly
M0027189 JAIGNABE_00016 18605 3 Skin 0.01 protein_coding missense_variant MODERATE 1018G>A Val340Ile
M0027190 JAIGNABE_00016 18660 3 Skin 0.01 protein_coding synonymous_variant LOW 963T>C Ala321Ala
M0027191 JAIGNABE_00016 18677 3 Skin 0.01 protein_coding missense_variant MODERATE 946G>C Val316Leu
M0027192 JAIGNABE_00016 18831 3 Skin 0.01 protein_coding synonymous_variant LOW 792C>T Ser264Ser
M0027193 JAIGNABE_00016 18943 3 Skin 0.01 protein_coding missense_variant MODERATE 680A>C Lys227Thr
M0027194 JAIGNABE_00016 19032 3 Skin 0.01 protein_coding synonymous_variant LOW 591C>T Asp197Asp
M0027195 JAIGNABE_00016 19089 3 Skin 0.01 protein_coding synonymous_variant LOW 534A>C Gly178Gly
M0027196 JAIGNABE_00016 19177 3 Skin 0.01 protein_coding missense_variant MODERATE 446A>C Lys149Thr
M0027197 JAIGNABE_00016 19206 3 Skin 0.01 protein_coding synonymous_variant LOW 417A>G Lys139Lys
M0027198 JAIGNABE_00016 19259 3 Skin 0.01 protein_coding missense_variant MODERATE 364A>C Lys122Gln
M0027199 JAIGNABE_00016 19338 3 Skin 0.01 protein_coding synonymous_variant LOW 285C>T Ser95Ser
M0027200 JAIGNABE_00016 19350 3 Skin 0.01 protein_coding synonymous_variant LOW 273G>T Ser91Ser
M0027201 JAIGNABE_00016 19396 3 Skin 0.01 protein_coding missense_variant MODERATE 227A>C Glu76Ala
M0027202 JAIGNABE_00016 19410 3 Skin 0.01 protein_coding synonymous_variant LOW 213C>G Val71Val
M0027203 JAIGNABE_00016 19467 3 Skin 0.01 protein_coding synonymous_variant LOW 156T>C Ser52Ser
M0027204 JAIGNABE_00016 19593 3 Skin 0.01 protein_coding synonymous_variant LOW 30C>A Arg10Arg
M0027205 JAIGNABE_00017 20269 3 Skin 0.01 protein_coding missense_variant MODERATE 142G>A Val48Ile
M0027206 JAIGNABE_00012 14379 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -398G>A None
M0027207 JAIGNABE_00006 6318 3 Skin 0.01 protein_coding missense_variant MODERATE 980C>T Ala327Val
M0027208 JAIGNABE_00011 9990 3 Skin 0.01 protein_coding missense_variant MODERATE 1495G>A Ala499Thr
M0027209 JAIGNABE_00011 10490 3 Skin 0.01 protein_coding synonymous_variant LOW 1995C>T Ala665Ala
M0027210 JAIGNABE_00011 10582 3 Skin 0.01 protein_coding missense_variant MODERATE 2087C>T Ala696Val
M0027211 JAIGNABE_00011 10586 3 Skin 0.01 protein_coding synonymous_variant LOW 2091A>G Arg697Arg
M0027212 JAIGNABE_00011 9402 3 Skin 0.01 protein_coding missense_variant MODERATE 907C>G Arg303Gly






Analysis of virulence factors contributing to bacterial pathogenicity


This table presents virulence factors identified within the plasmid cluster.
      Note: Virulence factor analysis was performed using VFDB. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known virulence factors are listed.

Gene Name vf_gene_id vf_name identity evalue qstart qend query_coverage subject_coverage vf_category gene_description condition







        Analysis of biocide and heavy metal resistance genes to assess antimicrobial risk and environmental impact


This table presents biocides and heavy metals resistance genes identified within the plasmid cluster.
      Note: Analyzing biocide and heavy metal resistance genes based on BacMet to evaluate bacterial resistance risk and the potential impact of environmental heavy metal contamination. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, E-value < 1e-5) to known biocide and heavy metal resistance genes are listed.

Gene Name compound identity evalue qstart qend query_coverage subject_coverage group






        Analyzing antimicrobial resistance genes to assess bacterial resistance to antibiotics and other antimicrobial agents


This table presents antimicrobial resistance genes identified within the plasmid cluster.
      Note: Antimicrobial resistance was performed using CARD. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known antimicrobial resistance genes are listed.

Gene Name aro_accession identity evalue qstart qend query_coverage subject_coverage drug_class amr_gene_family resistance_mechanism






Analysis of pathogenicity genes to explore pathogen-host interactions


This table presents host pathogen-host interactions within the plasmid cluster.
      Note: Analyzing pathogenicity-related genes using PHI-base to understand pathogen virulence mechanisms and their impact on host interactions. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e-5) to known pathogenicity-related genes are listed.

Gene Name phi_molconn_id host gene_name identity evalue qstart qend query_coverage subject_coverage host_descripton disease_name function phenotype_of_mutant






        Analyzing carbohydrate-active enzyme genes to uncover mechanisms of nutrient degradation


This table presents carbohydrate-active enzyme genes identified within the plasmid cluster.
      Note: Annotation of carbohydrate-active enzyme genes was performed using CAZy to explore mechanisms of nutrient breakdown and utilization. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known CAZyme genes are listed.

Gene Name cazy_id identity evalue qstart qend query_coverage subject_coverage
JAIGNABE_00011 BDQ39378.1|CBM50 95.9 0 1 1275 1 1





        Analyzing transport proteins to understand bacterial strategies for substrate uptake and detoxification


This table presents transport proteins within the plasmid cluster.
      Note: Investigation of transport proteins based on TCDB to uncover bacterial mechanisms of substrate transport and environmental detoxification. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known transport protein entries are listed.

Gene Name tcid identity evalue qstart qend query_coverage subject_coverage class_field class_term subclass subclass_term family family_term