chr1 1368428 1371403 VWA1 F chr1_1368436_1368749_10101_2 1 . -1 -1 . -1 . . . . . . . chr1 1368471 1368786 VWA1 F chr1_1368436_1368749_10101_2 1 . -1 -1 . -1 . . . . . . . chr1 1711007 1714568 NADK F chr1_1714460_1714683_11000_1 1 . -1 -1 . -1 . . . . . . . chr1 1714020 1714715 NADK F chr1_1714460_1714568_11000_1 1 . -1 -1 . -1 . . . . . . . chr1 1765000 1765284 CCNL2 S chr1_1334758_1334950_10000_1:chr1_1336258_1336602_10000_2 2 . -1 -1 . -1 . . . . . . . chr1 1765384 1766064 CCNL2 S chr1_1334758_1334950_10000_1:chr1_1336258_1336602_10000_2 2 . -1 -1 . -1 . . . . . . . chr1 1978634 1982409 PRKCZ F chr1_1978694_1979214_11000_1 1 . -1 -1 . -1 . . . . . . . chr1 1978731 1978937 PRKCZ F chr1_1978694_1979214_11000_1 1 . -1 -1 . -1 . . . . . . . chr1 2138671 2140445 C1orf86 F chr1_2139851_2140114_11111_3 1 . -1 -1 . -1 . . . . . . . chr1 2140151 2140337 C1orf86 F chr1_2139199_2139438_11000_1:chr1_2139756_2140114_11111_3 2 . -1 -1 . -1 . . . . . . . chr1 2159633 2162861 SKI F chr1_2163135_2163296_10000_1 1 chr1 2160267 2160268 CM129807 + 1 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm TCCAGCCGCACCCGGGGCTGCAGAAGACGC[T/G]GGAGCAGTTCCACCTGAGCTCCATGAGCTC 23023332 chr1 2159633 2162861 SKI F chr1_2163135_2163296_10000_1 1 chr1 2160297 2160298 CM1210255 + 1 DM NULL SKI Shprintzen-Goldberg syndrome TGGAGCAGTTCCACCTGAGCTCCATGAGCT[C/T]GCTGGGCGGCCCGGCCGCTTTCTCGGCGCG 23103230 chr1 2159633 2162861 SKI F chr1_2163135_2163296_10000_1 1 chr1 2160299 2160300 CM129806 + 1 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm GAGCAGTTCCACCTGAGCTCCATGAGCTCG[C/G]TGGGCGGCCCGGCCGCTTTCTCGGCGCGCT 23023332 chr1 2159633 2162861 SKI F chr1_2163135_2163296_10000_1 1 chr1 2160300 2160301 CM1210254 + 1 DM NULL SKI Shprintzen-Goldberg syndrome AGCAGTTCCACCTGAGCTCCATGAGCTCGC[T/C]GGGCGGCCCGGCCGCTTTCTCGGCGCGCTG 23103230 chr1 2159633 2162861 SKI F chr1_2163135_2163296_10000_1 1 chr1 2160305 2160306 CM129801 + 1 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm TTCCACCTGAGCTCCATGAGCTCGCTGGGC[G/A]GCCCGGCCGCTTTCTCGGCGCGCTGGGCGC 23023332 chr1 2159633 2162861 SKI F chr1_2163135_2163296_10000_1 1 chr1 2160305 2160306 CM129803 + 1 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm TTCCACCTGAGCTCCATGAGCTCGCTGGGC[G/T]GCCCGGCCGCTTTCTCGGCGCGCTGGGCGC 23023332 chr1 2159633 2162861 SKI F chr1_2163135_2163296_10000_1 1 chr1 2160306 2160307 CM1210252 + 1 DM NULL SKI Shprintzen-Goldberg syndrome TCCACCTGAGCTCCATGAGCTCGCTGGGCG[G/T]CCCGGCCGCTTTCTCGGCGCGCTGGGCGCA 23103230 chr1 2159633 2162861 SKI F chr1_2163135_2163296_10000_1 1 chr1 2160306 2160307 CM129804 + 1 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm TCCACCTGAGCTCCATGAGCTCGCTGGGCG[G/A]CCCGGCCGCTTTCTCGGCGCGCTGGGCGCA 23023332 chr1 2159633 2162861 SKI F chr1_2163135_2163296_10000_1 1 chr1 2160308 2160309 CM129805 + 1 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm CACCTGAGCTCCATGAGCTCGCTGGGCGGC[C/T]CGGCCGCTTTCTCGGCGCGCTGGGCGCAGG 23023332 chr1 2159633 2162861 SKI F chr1_2163135_2163296_10000_1 1 chr1 2160309 2160310 CM1210253 + 1 DM NULL SKI Shprintzen-Goldberg syndrome ACCTGAGCTCCATGAGCTCGCTGGGCGGCC[C/A]GGCCGCTTTCTCGGCGCGCTGGGCGCAGGA 23103230 chr1 2159633 2162861 SKI F chr1_2163135_2163296_10000_1 1 chr1 2160488 2160496 CD129808 + 5 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm GTGCTGCCCGGGCCCTTCTTCATGCCGTCC[GACCGCTCC/-]ACCGAGCGCTGCGAGACCGTACTGGAAGGC 23023332 chr1 2159633 2162861 SKI F chr1_2163135_2163296_10000_1 1 chr1 2160552 2160553 CM129800 + 1 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm AAGGCGAGACCATCTCGTGCTTCGTGGTGG[G/A]AGGCGAGAAGCGCCTGTGTCTGCCGCAGAT 23023332 chr1 2159633 2162861 SKI F chr1_2163135_2163296_10000_1 1 chr1 2160554 2160555 CM129802 + 1 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm GGCGAGACCATCTCGTGCTTCGTGGTGGGA[G/C]GCGAGAAGCGCCTGTGTCTGCCGCAGATTC 23023332 chr1 2160116 2160400 CCNL2 S chr1_1334758_1334950_10000_1:chr1_1336258_1336602_10000_2 2 chr1 2160267 2160268 CM129807 + 1 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm TCCAGCCGCACCCGGGGCTGCAGAAGACGC[T/G]GGAGCAGTTCCACCTGAGCTCCATGAGCTC 23023332 chr1 2160116 2160400 CCNL2 S chr1_1334758_1334950_10000_1:chr1_1336258_1336602_10000_2 2 chr1 2160297 2160298 CM1210255 + 1 DM NULL SKI Shprintzen-Goldberg syndrome TGGAGCAGTTCCACCTGAGCTCCATGAGCT[C/T]GCTGGGCGGCCCGGCCGCTTTCTCGGCGCG 23103230 chr1 2160116 2160400 CCNL2 S chr1_1334758_1334950_10000_1:chr1_1336258_1336602_10000_2 2 chr1 2160299 2160300 CM129806 + 1 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm GAGCAGTTCCACCTGAGCTCCATGAGCTCG[C/G]TGGGCGGCCCGGCCGCTTTCTCGGCGCGCT 23023332 chr1 2160116 2160400 CCNL2 S chr1_1334758_1334950_10000_1:chr1_1336258_1336602_10000_2 2 chr1 2160300 2160301 CM1210254 + 1 DM NULL SKI Shprintzen-Goldberg syndrome AGCAGTTCCACCTGAGCTCCATGAGCTCGC[T/C]GGGCGGCCCGGCCGCTTTCTCGGCGCGCTG 23103230 chr1 2160116 2160400 CCNL2 S chr1_1334758_1334950_10000_1:chr1_1336258_1336602_10000_2 2 chr1 2160305 2160306 CM129801 + 1 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm TTCCACCTGAGCTCCATGAGCTCGCTGGGC[G/A]GCCCGGCCGCTTTCTCGGCGCGCTGGGCGC 23023332 chr1 2160116 2160400 CCNL2 S chr1_1334758_1334950_10000_1:chr1_1336258_1336602_10000_2 2 chr1 2160305 2160306 CM129803 + 1 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm TTCCACCTGAGCTCCATGAGCTCGCTGGGC[G/T]GCCCGGCCGCTTTCTCGGCGCGCTGGGCGC 23023332 chr1 2160116 2160400 CCNL2 S chr1_1334758_1334950_10000_1:chr1_1336258_1336602_10000_2 2 chr1 2160306 2160307 CM1210252 + 1 DM NULL SKI Shprintzen-Goldberg syndrome TCCACCTGAGCTCCATGAGCTCGCTGGGCG[G/T]CCCGGCCGCTTTCTCGGCGCGCTGGGCGCA 23103230 chr1 2160116 2160400 CCNL2 S chr1_1334758_1334950_10000_1:chr1_1336258_1336602_10000_2 2 chr1 2160306 2160307 CM129804 + 1 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm TCCACCTGAGCTCCATGAGCTCGCTGGGCG[G/A]CCCGGCCGCTTTCTCGGCGCGCTGGGCGCA 23023332 chr1 2160116 2160400 CCNL2 S chr1_1334758_1334950_10000_1:chr1_1336258_1336602_10000_2 2 chr1 2160308 2160309 CM129805 + 1 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm CACCTGAGCTCCATGAGCTCGCTGGGCGGC[C/T]CGGCCGCTTTCTCGGCGCGCTGGGCGCAGG 23023332 chr1 2160116 2160400 CCNL2 S chr1_1334758_1334950_10000_1:chr1_1336258_1336602_10000_2 2 chr1 2160309 2160310 CM1210253 + 1 DM NULL SKI Shprintzen-Goldberg syndrome ACCTGAGCTCCATGAGCTCGCTGGGCGGCC[C/A]GGCCGCTTTCTCGGCGCGCTGGGCGCAGGA 23103230 chr1 2181000 2181049 CCNL2 S chr1_1334758_1334950_10000_1:chr1_1336258_1336602_10000_2 2 . -1 -1 . -1 . . . . . . . chr1 2406485 2408254 PLCH2 F chr1_2406567_2406842_11001_1 1 . -1 -1 . -1 . . . . . . . chr1 2406489 2406881 PLCH2 F chr1_2406567_2406842_11001_1 1 . -1 -1 . -1 . . . . . . . chr1 6661008 6661639 KLHL21 F chr1_6661233_6661473_11101_2 1 . -1 -1 . -1 . . . . . . . chr1 6661123 6663429 KLHL21 F chr1_6661233_6661473_11101_2 1 . -1 -1 . -1 . . . . . . . chr1 7843404 7845263 PER3 F chr1_7843575_7843953_11101_2 1 . -1 -1 . -1 . . . . . . . chr1 7843556 7843653 PER3 F chr1_7843575_7844748_11101_2 1 . -1 -1 . -1 . . . . . . . chr1 8611730 8612600 ENO1 S chr1_8933843_8933913_10100_1 1 . -1 -1 . -1 . . . . . . . chr1 8931087 8931428 ENO1 S chr1_9222883_9223169_10000_3:chr1_9223716_9224359_10000_3 2 . -1 -1 . -1 . . . . . . . chr1 8931672 8932043 ENO1 S chr1_8176685_8177291_11110_3:chr1_8229924_8230549_11010_3:chr1_8249982_8250426_11000_2:chr1_8728323_8728494_10010_2:chr1_8802097_8802425_11010_4:chr1_9222883_9223169_10000_3:chr1_9223716_9224359_10000_3 7 . -1 -1 . -1 . . . . . . . chr1 8932164 8932256 ENO1 S chr1_9222883_9223169_10000_3:chr1_9223716_9224359_10000_3 2 . -1 -1 . -1 . . . . . . . chr1 8933763 8933913 ENO1 S chr1_9222883_9223169_10000_3:chr1_9223716_9224359_10000_3 2 . -1 -1 . -1 . . . . . . . chr1 9222800 9224514 ENO1 S chr1_8931115_8931428_10000_3:chr1_8933843_8933913_10100_1 2 . -1 -1 . -1 . . . . . . . chr1 9293444 9295363 H6PD F chr1_9293349_9293750_10000_3 1 . -1 -1 . -1 . . . . . . . chr1 9293549 9293739 H6PD F chr1_9293444_9293750_10000_3:chr1_9294187_9294457_10000_2:chr1_9294910_9295020_10000_1:chr1_9295340_9295363_10000_1 4 . -1 -1 . -1 . . . . . . . chr1 10853986 10854555 CASZ1 F chr1_10856638_10856809_10100_1 1 . -1 -1 . -1 . . . . . . . chr1 11779352 11779922 RNU5E-1 S chr1_11967894_11968482_10000_2:chr1_11969055_11969187_10000_1 2 . -1 -1 . -1 . . . . . . . chr1 11798209 11798600 AGTRAP F chr1_11797108_11797298_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 11798918 11799121 AGTRAP F chr1_11797108_11797298_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 15946733 15946892 DDI2 F chr1_15943706_15944034_10100_2:chr1_15944884_15945082_10010_2:chr1_15945273_15945598_10110_3 3 . -1 -1 . -1 . . . . . . . chr1 16173858 16176910 SPEN F chr1_16176985_16177101_11101_3 1 . -1 -1 . -1 . . . . . . . chr1 16176617 16176801 SPEN F chr1_16173946_16174230_11111_1:chr1_16175766_16176179_11111_2 2 . -1 -1 . -1 . . . . . . . chr1 16478939 16479163 EPHA2 F chr1_16481106_16481321_10110_1:chr1_16481455_16481776_11110_1:chr1_16482471_16482640_11111_1 3 . -1 -1 . -1 . . . . . . . chr1 16479299 16479465 EPHA2 F chr1_16481106_16481321_10110_1:chr1_16481455_16481776_11110_1:chr1_16482471_16482640_11111_1 3 . -1 -1 . -1 . . . . . . . chr1 16677236 16677843 FBXO42 F chr1_16677339_16677470_10010_1:chr1_16678941_16679051_10000_1 2 . -1 -1 . -1 . . . . . . . chr1 16677339 16679448 FBXO42 F chr1_16677270_16677470_10010_1 1 . -1 -1 . -1 . . . . . . . chr1 17913400 17913570 ARHGEF10L S chr1_17918500_17918858_11100_3 1 . -1 -1 . -1 . . . . . . . chr1 17913756 17915371 ARHGEF10L S chr1_17918500_17918858_11100_3 1 . -1 -1 . -1 . . . . . . . chr1 17918319 17919253 ARHGEF10L S chr1_17914615_17915185_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 19278388 19278892 IFFO2 F chr1_19278625_19278771_10110_1:chr1_19280247_19280465_11111_3 2 . -1 -1 . -1 . . . . . . . chr1 19278440 19283326 IFFO2 F chr1_19278625_19278771_10110_1 1 . -1 -1 . -1 . . . . . . . chr1 19280139 19280583 IFFO2 F chr1_19280247_19280465_11111_3 1 . -1 -1 . -1 . . . . . . . chr1 19280161 19283326 IFFO2 F chr1_19280247_19280465_11111_3 1 . -1 -1 . -1 . . . . . . . chr1 19614302 19615780 AKR7A3 F chr1_19614141_19614606_11000_2 1 . -1 -1 . -1 . . . . . . . chr1 19614370 19614635 AKR7A3 F chr1_19614302_19614606_11000_2:chr1_19615224_19615452_11000_1 2 . -1 -1 . -1 . . . . . . . chr1 20204786 20204981 OTUD3 F chr1_20208777_20208934_11100_1 1 . -1 -1 . -1 . . . . . . . chr1 20512077 20514536 UBXN10 F chr1_20513784_20513869_10110_1 1 . -1 -1 . -1 . . . . . . . chr1 20514084 20514586 UBXN10 F chr1_20513650_20513869_10110_1 1 . -1 -1 . -1 . . . . . . . chr1 21618792 21618804 ECE1 F chr1_21616906_21617020_10000_1:chr1_21616906_21617020_10000_1 2 . -1 -1 . -1 . . . . . . . chr1 22260274 22260656 HSPG2 F chr1_22264244_22264250_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 22266159 22266438 HSPG2 F chr1_22264244_22264446_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 22375063 22379620 CDC42 F chr1_22375161_22375370_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 22375194 22375332 CDC42 F chr1_22375161_22375370_10000_1:chr1_22379060_22379203_10010_2 2 . -1 -1 . -1 . . . . . . . chr1 23885784 23889140 ID3 F chr1_23888863_23889003_11111_1 1 . -1 -1 . -1 . . . . . . . chr1 23888678 23889201 ID3 F chr1_23888863_23889003_11111_1 1 . -1 -1 . -1 . . . . . . . chr1 24516156 24516343 IL28RA F chr1_24513946_24514242_11000_3 1 . -1 -1 . -1 . . . . . . . chr1 24833128 24833464 RCAN3 F chr1_24828910_24829073_10110_1 1 . -1 -1 . -1 . . . . . . . chr1 24968619 24968979 SRRM1 F chr1_24969379_24969537_11110_1 1 . -1 -1 . -1 . . . . . . . chr1 25558512 25560053 SYF2 F chr1_25559660_25559846_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 25559638 25560067 SYF2 F chr1_25559660_25559846_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 25942744 25943208 MAN1C1 F chr1_25942877_25943109_10110_1 1 . -1 -1 . -1 . . . . . . . chr1 25942776 25944459 MAN1C1 F chr1_25942877_25943109_10110_1 1 . -1 -1 . -1 . . . . . . . chr1 26324093 26324974 PAFAH2 S chr1_27264619_27265453_11111_4 1 . -1 -1 . -1 . . . . . . . chr1 26560167 26561397 CEP85 S chr1_27264619_27265453_11111_4 1 . -1 -1 . -1 . . . . . . . chr1 26857687 26858072 RPS6KA1 S chr1_27264619_27265453_11111_4 1 . -1 -1 . -1 . . . . . . . chr1 27022021 27025089 ARID1A F chr1_27024735_27024899_11111_1 1 chr1 27023252 27023253 CM1311966 + 1 DM? NULL ARID1A Coffin-Siris syndrome AGGCCCGCCCTGAACAATAACCTCACGGAG[C/T]CGCCCGGCGGCGGCGGTGGCGGCAGCAGCG 23906836 chr1 27022021 27025089 ARID1A F chr1_27024735_27024899_11111_1 1 chr1 27024007 27024008 CD1310751 + 5 DM NULL ARID1A Coffin-Siris syndrome CATGAGCCCCGGGAGCAGCGGCGGCGGGGG[G/-]CAGCCGCTCGCCCGGACCCCTCAGGTACAC 23929686 chr1 27024638 27025138 ARID1A F chr1_27022021_27022228_11111_1:chr1_27024735_27024899_11111_1 2 . -1 -1 . -1 . . . . . . . chr1 27189132 27191857 SFN F chr1_27191711_27191867_10101_1 1 . -1 -1 . -1 . . . . . . . chr1 27191386 27191927 SFN F chr1_27191711_27191857_10101_1 1 . -1 -1 . -1 . . . . . . . chr1 27264331 27265466 CEP85 S chr1_26560167_26560600_10010_1 1 . -1 -1 . -1 . . . . . . . chr1 27264331 27265466 PAFAH2 S chr1_26324581_26324900_11111_2 1 . -1 -1 . -1 . . . . . . . chr1 27317023 27317800 PAFAH2 S chr1_26324581_26324900_11111_2 1 . -1 -1 . -1 . . . . . . . chr1 28098635 28098880 STX12 F chr1_28099503_28099756_11111_1 1 . -1 -1 . -1 . . . . . . . chr1 28414647 28418123 EYA3 F chr1_28417853_28417977_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 28416909 28416983 EYA3 F chr1_28415043_28415242_10000_2 1 . -1 -1 . -1 . . . . . . . chr1 28417819 28418026 EYA3 F chr1_28415043_28415242_10000_2:chr1_28417853_28417977_10000_1 2 . -1 -1 . -1 . . . . . . . chr1 29214759 29214998 EPB41 F chr1_29213249_29213466_11111_1 1 . -1 -1 . -1 . . . . . . . chr1 29562527 29565824 PTPRU F chr1_29565850_29565992_11000_1 1 . -1 -1 . -1 . . . . . . . chr1 29562527 29566109 PTPRU F chr1_29565850_29565992_11000_1 1 . -1 -1 . -1 . . . . . . . chr1 29565515 29565732 PTPRU F chr1_29564994_29565159_11000_1 1 . -1 -1 . -1 . . . . . . . chr1 29565762 29566055 PTPRU F chr1_29564994_29565159_11000_1:chr1_29565850_29565992_11000_1 2 . -1 -1 . -1 . . . . . . . chr1 31537719 31538012 PUM1 F chr1_31538542_31538741_11011_2 1 . -1 -1 . -1 . . . . . . . chr1 31974480 31975200 PTP4A2 S chr1_32404080_32404468_11100_2 1 . -1 -1 . -1 . . . . . . . chr1 32166648 32170268 COL16A1 F chr1_32166811_32167102_11010_2 1 . -1 -1 . -1 . . . . . . . chr1 32166698 32166999 COL16A1 F chr1_32166811_32167102_11010_2 1 . -1 -1 . -1 . . . . . . . chr1 32402972 32404585 PTP4A2 S chr1_31974870_31975135_10000_3 1 . -1 -1 . -1 . . . . . . . chr1 32800680 32801141 HDAC1 S chr1_31895608_31895680_10000_2:chr1_33799832_33800200_10001_3 2 . -1 -1 . -1 . . . . . . . chr1 33427851 33428169 RNF19B F chr1_33430390_33430630_11101_1 1 . -1 -1 . -1 . . . . . . . chr1 33433896 33434020 RNF19B F chr1_33430390_33430630_11101_1 1 . -1 -1 . -1 . . . . . . . chr1 36555347 36555633 ADPRHL2 F chr1_36554397_36554583_11100_1 1 . -1 -1 . -1 . . . . . . . chr1 36771753 36772997 SH3D21 S chr1_36706000_36706093_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 36849527 36849580 STK40 F chr1_36850496_36850673_11110_1:chr1_36851586_36851854_11101_2 2 . -1 -1 . -1 . . . . . . . chr1 36948414 36952875 CSF3R F chr1_36952529_36952950_11111_3 1 . -1 -1 . -1 . . . . . . . chr1 36952484 36952865 CSF3R F chr1_36952529_36952875_11111_3 1 . -1 -1 . -1 . . . . . . . chr1 39874208 39874673 KIAA0754 F chr1_39874306_39874529_11000_1 1 . -1 -1 . -1 . . . . . . . chr1 39874240 39875676 KIAA0754 F chr1_39874306_39874529_11000_1 1 . -1 -1 . -1 . . . . . . . chr1 40504860 40505165 CAP1 F chr1_40506103_40506521_10100_2 1 . -1 -1 . -1 . . . . . . . chr1 40861971 40866483 SMAP2 F chr1_40865811_40865892_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 40866111 40866454 SMAP2 F chr1_40865759_40865892_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 41952015 41952273 EDN2 F chr1_41949891_41950013_10000_1:chr1_41950302_41950499_10000_1 2 . -1 -1 . -1 . . . . . . . chr1 42781800 42781831 FOXJ3 S chr1_42800933_42801117_11100_2:chr1_42801537_42801625_11111_3 2 . -1 -1 . -1 . . . . . . . chr1 43996046 43998198 PTPRF F chr1_43997543_43997555_10110_1 1 chr1 43996420 43996421 CR041897 + 3 DP rs3001722 PTPRF Obesity: reduced risk: association with TTTCGACTTGGCGTTGGGTTGTGGCCTGTC[T/A]GGGCCTCAGCGGCTCCGCGGCTCTACGAGC 15150650 chr1 43997843 43998152 PTPRF F chr1_43997303_43997555_10110_1 1 . -1 -1 . -1 . . . . . . . chr1 44001932 44002000 PTPRF S chr1_44007627_44008060_11100_2 1 . -1 -1 . -1 . . . . . . . chr1 44007512 44008166 PTPRF S chr1_44011000_44011237_10101_1:chr1_44011364_44011848_11101_3 2 . -1 -1 . -1 . . . . . . . chr1 44011000 44012000 PTPRF S chr1_44007627_44008060_11100_2 1 . -1 -1 . -1 . . . . . . . chr1 44411945 44413055 IPO13 S chr1_44749250_44749462_10010_3:chr1_44749821_44750170_11000_1 2 . -1 -1 . -1 . . . . . . . chr1 44748142 44750170 IPO13 S chr1_44412149_44412279_11010_1 1 . -1 -1 . -1 . . . . . . . chr1 44748142 44750170 PLK3 S chr1_45265819_45266100_10000_2 1 . -1 -1 . -1 . . . . . . . chr1 45265417 45266360 PLK3 S chr1_44749250_44749462_10010_3:chr1_44749821_44750170_11000_1 2 . -1 -1 . -1 . . . . . . . chr1 45986802 45988221 PRDX1 S chr1_46337800_46338098_11000_4 1 . -1 -1 . -1 . . . . . . . chr1 46337800 46338529 PRDX1 S chr1_45987444_45987704_10100_1 1 . -1 -1 . -1 . . . . . . . chr1 54358495 54358647 YIPF1 F chr1_54355452_54355835_11101_2 1 . -1 -1 . -1 . . . . . . . chr1 54871478 54873496 SSBP3 F chr1_54873328_54873580_11111_1 1 . -1 -1 . -1 . . . . . . . chr1 54871591 54873496 SSBP3 F chr1_54873328_54873580_11111_1 1 . -1 -1 . -1 . . . . . . . chr1 54873075 54873515 SSBP3 F chr1_54873328_54873496_11111_1:chr1_54873328_54873496_11111_1 2 . -1 -1 . -1 . . . . . . . chr1 56973670 56974748 PPAP2B S chr1_57044037_57044193_11111_1:chr1_57044877_57045192_11100_2 2 . -1 -1 . -1 . . . . . . . chr1 57042744 57043185 PPAP2B F chr1_57042764_57042876_11000_1:chr1_57044037_57044193_11111_1:chr1_57044877_57045192_11100_2 3 . -1 -1 . -1 . . . . . . . chr1 57042764 57045757 PPAP2B F chr1_57042721_57042876_11000_1 1 . -1 -1 . -1 . . . . . . . chr1 57043287 57044160 PPAP2B F chr1_57044037_57044193_11111_1:chr1_57044877_57045192_11100_2 2 . -1 -1 . -1 . . . . . . . chr1 57043523 57045757 PPAP2B F chr1_57044037_57044193_11111_1 1 . -1 -1 . -1 . . . . . . . chr1 57043882 57045494 PPAP2B S chr1_56974073_56974572_11000_4:chr1_57376054_57376548_11111_4:chr1_57377080_57377502_11110_3:chr1_57745897_57746224_11010_4 4 . -1 -1 . -1 . . . . . . . chr1 57375570 57377502 PPAP2B S chr1_57044037_57044193_11111_1:chr1_57044877_57045192_11100_2 2 . -1 -1 . -1 . . . . . . . chr1 57745532 57746600 PPAP2B S chr1_57044037_57044193_11111_1:chr1_57044877_57045192_11100_2 2 . -1 -1 . -1 . . . . . . . chr1 59247914 59251010 JUN S chr1_59351200_59351326_11111_3 1 chr1 59250452 59250453 CR115660 - 3 DFP rs4646999 JUN Colorectal cancer: increased risk: association with GCGGACCGTCGCTCCTGAACTTGACCGAGA[T/C]GCAAACTTCGGAGTGTTCTCAACGTGGGGG 21393476 chr1 59351200 59351664 JUN S chr1_59249899_59250018_11001_2 1 . -1 -1 . -1 . . . . . . . chr1 59364422 59365262 JUN S chr1_59249899_59250018_11001_2 1 . -1 -1 . -1 . . . . . . . chr1 59758297 59763125 FGGY F chr1_59758287_59758536_10000_3 1 . -1 -1 . -1 . . . . . . . chr1 59758328 59758666 FGGY F chr1_59758297_59758536_10000_3:chr1_59760748_59760917_10000_1:chr1_59762153_59762742_11100_1 3 . -1 -1 . -1 . . . . . . . chr1 61542445 61543945 NFIA F chr1_61543605_61543889_11111_2 1 . -1 -1 . -1 . . . . . . . chr1 61543544 61548034 NFIA F chr1_61543605_61543889_11111_2 1 . -1 -1 . -1 . . . . . . . chr1 61543544 61548480 NFIA F chr1_61543605_61543889_11111_2 1 . -1 -1 . -1 . . . . . . . chr1 61543611 61543877 NFIA F chr1_61542810_61543035_11111_4:chr1_61543605_61543889_11111_2:chr1_61543605_61543889_11111_2:chr1_61543605_61543889_11111_2:chr1_61545673_61545809_11111_1:chr1_61545673_61545809_11111_1:chr1_61548150_61548334_10100_2 7 . -1 -1 . -1 . . . . . . . chr1 63785209 63789230 FOXD3 F chr1_63785447_63785627_11100_1 1 chr1 63788091 63788092 CR052971 + 3 DFP rs41285370 FOXD3 Vitiligo: autosomal dominant: association with CCCCGGGGATGCTGGCGCACAGTGCGGAGC[G/T]GAGTTGCGCGTCTCTCGTCCCTTTGTTGAC 16098053 chr1 63785369 63785450 FOXD3 F chr1_63785447_63785627_11100_1:chr1_63788021_63788211_11010_1 2 . -1 -1 . -1 . . . . . . . chr1 65888047 65888596 LEPR F chr1_65885834_65886062_11111_1:chr1_65886477_65886942_11100_1 2 . -1 -1 . -1 . . . . . . . chr1 65888047 65888596 LEPROT F chr1_65885811_65886062_11111_1:chr1_65885898_65886062_11111_1:chr1_65886477_65886942_11100_1:chr1_65886477_65886942_11100_1 4 . -1 -1 . -1 . . . . . . . chr1 68000003 68001294 GADD45A S chr1_68150547_68150985_11111_2:chr1_68152373_68152579_11101_2 2 . -1 -1 . -1 . . . . . . . chr1 68150547 68152637 GADD45A S chr1_68000291_68000524_10000_2:chr1_68001130_68001294_10000_3 2 . -1 -1 . -1 . . . . . . . chr1 70876400 70878168 CTH F chr1_70877856_70878155_10010_1 1 . -1 -1 . -1 . . . . . . . chr1 70877943 70877992 CTH F chr1_70876400_70876948_10010_3:chr1_70877856_70878155_10010_1 2 . -1 -1 . -1 . . . . . . . chr1 76250721 76250813 RABGGTB F chr1_76251639_76252020_11000_1 1 . -1 -1 . -1 . . . . . . . chr1 78469106 78469287 DNAJB4 F chr1_78470310_78470612_11110_3 1 . -1 -1 . -1 . . . . . . . chr1 82265581 82269205 LPHN2 F chr1_82268120_82268207_11101_1:chr1_82268612_82268752_10100_1:chr1_82269426_82269726_11010_3 3 . -1 -1 . -1 . . . . . . . chr1 82268420 82269588 LPHN2 F chr1_82265790_82266013_11111_1:chr1_82266762_82267175_11111_2:chr1_82268015_82268207_11101_1:chr1_82268612_82268752_10100_1 4 . -1 -1 . -1 . . . . . . . chr1 84970929 84972762 GNG5 F chr1_84970883_84971223_11111_3 1 . -1 -1 . -1 . . . . . . . chr1 84971050 84971209 GNG5 F chr1_84970929_84971223_11111_3:chr1_84971715_84972037_11111_1:chr1_84972261_84972512_11101_1 3 . -1 -1 . -1 . . . . . . . chr1 85038638 85040663 CTBS F chr1_85038381_85038404_10010_1:chr1_85038747_85038896_10010_2:chr1_85039184_85039296_10000_1 3 . -1 -1 . -1 . . . . . . . chr1 85038681 85038996 CTBS F chr1_85038747_85038896_10010_2:chr1_85039184_85039380_10000_1:chr1_85039654_85039831_10000_1 3 . -1 -1 . -1 . . . . . . . chr1 87171187 87171726 SH3GLB1 F chr1_87170220_87170347_11000_1 1 . -1 -1 . -1 . . . . . . . chr1 89530542 89534836 GBP1 F chr1_89534173_89534214_10000_3 1 . -1 -1 . -1 . . . . . . . chr1 89534473 89534797 GBP1 F chr1_89530542_89530640_10000_1:chr1_89530998_89531188_10000_2:chr1_89534048_89534214_10000_3 3 . -1 -1 . -1 . . . . . . . chr1 89591298 89594902 GBP2 F chr1_89594400_89594717_10000_3 1 . -1 -1 . -1 . . . . . . . chr1 89594590 89594813 GBP2 F chr1_89591785_89591985_10000_1:chr1_89594400_89594717_10000_3 2 . -1 -1 . -1 . . . . . . . chr1 89595596 89595852 GBP2 F chr1_89591785_89591985_10000_1:chr1_89594400_89594717_10000_3 2 . -1 -1 . -1 . . . . . . . chr1 89738043 89740465 GBP5 F chr1_89740171_89740575_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 89739985 89740544 GBP5 F chr1_89740171_89740465_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 90022553 90024772 LRRC8B F chr1_90022352_90022892_10010_1 1 . -1 -1 . -1 . . . . . . . chr1 90022562 90022945 LRRC8B F chr1_90022553_90022892_10010_1 1 . -1 -1 . -1 . . . . . . . chr1 91183313 91183764 BARHL2 F chr1_91182732_91182915_11010_1 1 . -1 -1 . -1 . . . . . . . chr1 91185058 91185169 BARHL2 F chr1_91182732_91182915_11010_1 1 . -1 -1 . -1 . . . . . . . chr1 93913187 93915084 FNBP1L F chr1_93915070_93915254_11000_1 1 . -1 -1 . -1 . . . . . . . chr1 93914812 93914954 FNBP1L F chr1_93915070_93915084_11000_1 1 . -1 -1 . -1 . . . . . . . chr1 94701813 94701865 ARHGAP29 F chr1_94703120_94703398_11101_1 1 . -1 -1 . -1 . . . . . . . chr1 100110930 100113986 PALMD F chr1_100113234_100113358_11111_1:chr1_100113828_100113942_11101_1 2 . -1 -1 . -1 . . . . . . . chr1 100113534 100114036 PALMD F chr1_100110930_100111107_11101_2:chr1_100111327_100111665_11101_1:chr1_100113187_100113358_11111_1:chr1_100113828_100113942_11101_1 4 . -1 -1 . -1 . . . . . . . chr1 100820585 100820838 CDC14A F chr1_100817841_100818261_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 109100040 109100237 FAM102B F chr1_109102481_109102690_11101_1:chr1_109103165_109103454_11100_1 2 . -1 -1 . -1 . . . . . . . chr1 109104473 109104583 FAM102B F chr1_109102481_109102690_11101_1:chr1_109103165_109103454_11100_1 2 . -1 -1 . -1 . . . . . . . chr1 109642486 109643575 ENSG00000238881 S chr1_109820163_109820662_11111_2:chr1_110502576_110503350_11000_3:chr1_110504126_110504445_11000_2 3 . -1 -1 . -1 . . . . . . . chr1 109723600 109724642 AHCYL1 S chr1_110527240_110527435_11111_2:chr1_110527957_110528041_11100_1 2 . -1 -1 . -1 . . . . . . . chr1 109819803 109820736 AHCYL1 S chr1_110527240_110527435_11111_2:chr1_110527957_110528041_11100_1 2 . -1 -1 . -1 . . . . . . . chr1 109819803 109820736 ENSG00000238881 S chr1_109642611_109642864_11111_1 1 . -1 -1 . -1 . . . . . . . chr1 109933790 109934137 SORT1 F chr1_109935614_109935923_10000_2 1 . -1 -1 . -1 . . . . . . . chr1 109937534 109937767 SORT1 F chr1_109935614_109935923_10000_2 1 . -1 -1 . -1 . . . . . . . chr1 109938897 109939079 SORT1 F chr1_109935614_109935923_10000_2 1 . -1 -1 . -1 . . . . . . . chr1 110160052 110160461 AMPD2 F chr1_110161288_110161615_11010_2:chr1_110161288_110161615_11010_2:chr1_110162310_110162451_11111_1:chr1_110162310_110162451_11111_1:chr1_110163302_110163470_11111_1 5 . -1 -1 . -1 . . . . . . . chr1 110454846 110455290 CSF1 F chr1_110453320_110453457_10100_1 1 . -1 -1 . -1 . . . . . . . chr1 110502400 110504746 AHCYL1 S chr1_110527240_110527435_11111_2:chr1_110527957_110528041_11100_1 2 . -1 -1 . -1 . . . . . . . chr1 110502400 110504746 ENSG00000238881 S chr1_109642611_109642864_11111_1 1 . -1 -1 . -1 . . . . . . . chr1 110526600 110527104 AHCYL1 S chr1_110527240_110527435_11111_2:chr1_110527957_110528041_11100_1 2 . -1 -1 . -1 . . . . . . . chr1 110527104 110528041 AHCYL1 S chr1_109723600_109723626_10001_1:chr1_109724008_109724303_11111_3:chr1_109820163_109820662_11111_2:chr1_110502576_110503350_11000_3:chr1_110504126_110504445_11000_2 5 . -1 -1 . -1 . . . . . . . chr1 110531600 110531767 AHCYL1 S chr1_110527240_110527435_11111_2:chr1_110527957_110528041_11100_1 2 . -1 -1 . -1 . . . . . . . chr1 112050044 112050594 ADORA3 F chr1_112046456_112046665_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 112163412 112163797 RAP1A F chr1_112162126_112162483_11000_1 1 . -1 -1 . -1 . . . . . . . chr1 112163826 112164071 RAP1A F chr1_112162126_112162483_11000_1 1 . -1 -1 . -1 . . . . . . . chr1 112942216 112942335 CTTNBP2NL F chr1_112938349_112938634_11101_1 1 . -1 -1 . -1 . . . . . . . chr1 115052423 115054281 TRIM33 F chr1_115053059_115053066_00000_1 1 . -1 -1 . -1 . . . . . . . chr1 115052481 115052766 TRIM33 F chr1_115053059_115053188_00000_1:chr1_115053799_115054230_11000_3 2 . -1 -1 . -1 . . . . . . . chr1 116518618 116520665 SLC22A15 F chr1_116520316_116520610_10000_3 1 . -1 -1 . -1 . . . . . . . chr1 116520279 116520650 SLC22A15 F chr1_116520316_116520610_10000_3 1 . -1 -1 . -1 . . . . . . . chr1 116915294 116919437 ATP1A1 F chr1_116918911_116919161_11100_1 1 . -1 -1 . -1 . . . . . . . chr1 116915988 116919437 ATP1A1 F chr1_116918911_116919161_11100_1 1 . -1 -1 . -1 . . . . . . . chr1 116915988 116920954 ATP1A1 F chr1_116920135_116920401_10000_1:chr1_116920652_116921004_10000_4 2 . -1 -1 . -1 . . . . . . . chr1 116918925 116919548 ATP1A1 F chr1_116915689_116915937_11100_1:chr1_116918911_116919161_11100_1:chr1_116918911_116919161_11100_1 3 . -1 -1 . -1 . . . . . . . chr1 116920378 116921129 ATP1A1 F chr1_116918911_116919161_11100_1:chr1_116920135_116920401_10000_1:chr1_116920652_116920954_10000_4 3 . -1 -1 . -1 . . . . . . . chr1 116923407 116923493 ATP1A1 F chr1_116924425_116924567_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 117041629 117041762 ENSG00000233154 S chr1_117008446_117008828_11101_3 1 . -1 -1 . -1 . . . . . . . chr1 120608824 120609208 NOTCH2 F chr1_120611146_120611273_10100_1:chr1_120612218_120612806_11110_2 2 . -1 -1 . -1 . . . . . . . chr1 145042783 145043227 PDE4DIP F chr1_145039835_145040039_11100_3 1 . -1 -1 . -1 . . . . . . . chr1 145092450 145092883 SEC22B F chr1_145092769_145093065_10000_1:chr1_145093559_145093672_10000_1:chr1_145096296_145096443_10100_2 3 . -1 -1 . -1 . . . . . . . chr1 145092466 145096907 SEC22B F chr1_145092769_145093065_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 145435103 145435641 TXNIP F chr1_145435172_145435660_00000_3:chr1_145436465_145436734_00000_2:chr1_145437605_145437780_00000_1:chr1_145438272_145438476_00000_3 4 . -1 -1 . -1 . . . . . . . chr1 145435172 145438962 TXNIP F chr1_145435072_145435660_00000_3 1 . -1 -1 . -1 . . . . . . . chr1 145437506 145438962 TXNIP F chr1_145437605_145437780_00000_1 1 . -1 -1 . -1 . . . . . . . chr1 145437595 145437817 TXNIP F chr1_145437605_145437780_00000_1:chr1_145438272_145438476_00000_3 2 . -1 -1 . -1 . . . . . . . chr1 149978684 149983186 OTUD7B F chr1_149978392_149978439_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 149978692 149979077 OTUD7B F chr1_149980754_149980947_11101_3:chr1_149982620_149982867_11110_1 2 . -1 -1 . -1 . . . . . . . chr1 149981648 149981889 OTUD7B F chr1_149982620_149982867_11110_1 1 . -1 -1 . -1 . . . . . . . chr1 150231710 150231944 CA14 F chr1_150230754_150230977_11101_1 1 . -1 -1 . -1 . . . . . . . chr1 150457628 150457800 ADAMTSL4 S chr1_150533840_150534028_11111_1:chr1_150534531_150534768_11110_1 2 . -1 -1 . -1 . . . . . . . chr1 150533395 150535013 ADAMTSL4 S chr1_150540631_150540923_11111_3 1 . -1 -1 . -1 . . . . . . . chr1 150540081 150541200 ADAMTSL4 S chr1_150533840_150534028_11111_1:chr1_150534531_150534768_11110_1 2 . -1 -1 . -1 . . . . . . . chr1 150540081 150541200 MCL1 S chr1_150552042_150552185_10111_1 1 . -1 -1 . -1 . . . . . . . chr1 150540081 150541200 ZNF687 S chr1_151253705_151254253_11111_2:chr1_151254464_151254980_11111_3 2 . -1 -1 . -1 . . . . . . . chr1 150550906 150552551 MCL1 S chr1_150540631_150540923_11111_3 1 . -1 -1 . -1 . . . . . . . chr1 150735950 150736336 CTSS F chr1_150737373_150737611_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 150946978 150949992 LASS2 F chr1_150949843_150950053_11000_1 1 . -1 -1 . -1 . . . . . . . chr1 150949569 150950014 LASS2 F chr1_150949843_150949992_11000_1 1 . -1 -1 . -1 . . . . . . . chr1 151253617 151256050 ZNF687 S chr1_150540631_150540923_11111_3 1 . -1 -1 . -1 . . . . . . . chr1 151483361 151485959 CGN F chr1_151485410_151485618_10000_1:chr1_151486082_151486141_11111_3 2 . -1 -1 . -1 . . . . . . . chr1 151483361 151486441 CGN F chr1_151486082_151486600_11111_3 1 . -1 -1 . -1 . . . . . . . chr1 151485676 151485841 CGN F chr1_151483688_151483920_10000_1:chr1_151485410_151485618_10000_1 2 . -1 -1 . -1 . . . . . . . chr1 151486181 151486300 CGN F chr1_151483688_151483920_10000_1:chr1_151485410_151485618_10000_1:chr1_151486082_151486441_11111_3 3 . -1 -1 . -1 . . . . . . . chr1 153361312 153361704 S100A8 F chr1_153363553_153363746_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 153366487 153366797 S100A8 F chr1_153363553_153363746_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 153583429 153586014 S100A16 F chr1_153583422_153583523_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 153583449 153583810 S100A16 F chr1_153583429_153583523_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 153936554 153936861 CREB3L4 F chr1_153939679_153939930_10000_2:chr1_153940180_153940449_10000_2 2 . -1 -1 . -1 . . . . . . . chr1 154154606 154155027 TPM3 F chr1_154155697_154155895_11101_1 1 . -1 -1 . -1 . . . . . . . chr1 154579303 154579782 ADAR F chr1_154580616_154580998_11111_2 1 . -1 -1 . -1 . . . . . . . chr1 154582047 154582244 ADAR F chr1_154580616_154580998_11111_2:chr1_154580616_154580998_11111_2 2 . -1 -1 . -1 . . . . . . . chr1 154904319 154905160 ENSG00000116521 S chr1_155232001_155232291_11101_2 1 . -1 -1 . -1 . . . . . . . chr1 154972918 154975606 ZBTB7B F chr1_154973319_154973500_10101_2 1 . -1 -1 . -1 . . . . . . . chr1 154973036 154973200 ZBTB7B F chr1_154973319_154973811_10101_2:chr1_154974544_154974784_10101_1 2 . -1 -1 . -1 . . . . . . . chr1 154973335 154973935 ZBTB7B F chr1_154973435_154973811_10101_2:chr1_154974544_154974784_10101_1 2 . -1 -1 . -1 . . . . . . . chr1 154973435 154975606 ZBTB7B F chr1_154973319_154973811_10101_2 1 . -1 -1 . -1 . . . . . . . chr1 154974605 154978547 ZBTB7B F chr1_154978152_154978399_10101_2 1 . -1 -1 . -1 . . . . . . . chr1 154977099 154977253 ZBTB7B F chr1_154974605_154974784_10101_1:chr1_154976375_154976681_10101_2 2 . -1 -1 . -1 . . . . . . . chr1 154978035 154978657 ZBTB7B F chr1_154974605_154974784_10101_1:chr1_154976375_154976681_10101_2:chr1_154978152_154978399_10101_2 3 . -1 -1 . -1 . . . . . . . chr1 154979104 154979305 ZBTB7B F chr1_154974605_154974784_10101_1:chr1_154976375_154976681_10101_2:chr1_154978152_154978399_10101_2 3 . -1 -1 . -1 . . . . . . . chr1 155098405 155100849 EFNA1 F chr1_155098460_155098804_11111_3:chr1_155099029_155099101_11101_2 2 . -1 -1 . -1 . . . . . . . chr1 155098409 155098801 EFNA1 F chr1_155098460_155098804_11111_3:chr1_155099029_155099305_11101_2:chr1_155099685_155100036_00000_4 3 . -1 -1 . -1 . . . . . . . chr1 155231373 155232553 ENSG00000116521 S chr1_154904433_154905064_10000_3 1 . -1 -1 . -1 . . . . . . . chr1 156099517 156100196 BCAN S chr1_156631073_156631211_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 156099517 156100196 ENSG00000116521 S chr1_155232001_155232291_11101_2 1 . -1 -1 . -1 . . . . . . . chr1 156099517 156100196 ENSG00000236947 S chr1_156426263_156426633_11101_3:chr1_156427052_156427703_11101_2 2 . -1 -1 . -1 . . . . . . . chr1 156099517 156100196 SLC50A1 S chr1_155098460_155098804_11111_3:chr1_155099029_155099305_11101_2:chr1_155099685_155100036_00000_4:chr1_155101486_155101829_11010_2:chr1_155107536_155107840_11010_1:chr1_155108155_155108300_11010_1 6 . -1 -1 . -1 . . . . . . . chr1 156629679 156631598 BCAN S chr1_157210267_157210842_10000_4 1 . -1 -1 . -1 . . . . . . . chr1 157106691 157107326 ETV3 F chr1_157108163_157108337_11101_1:chr1_157108163_157108337_11101_1 2 . -1 -1 . -1 . . . . . . . chr1 157111103 157111381 ETV3 F chr1_157108163_157108337_11101_1:chr1_157108163_157108337_11101_1 2 . -1 -1 . -1 . . . . . . . chr1 157112029 157112315 ETV3 F chr1_157108163_157108337_11101_1:chr1_157108163_157108337_11101_1 2 . -1 -1 . -1 . . . . . . . chr1 157210004 157211468 BCAN S chr1_156631073_156631211_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 159892447 159892988 TAGLN2 F chr1_159892690_159892883_11000_1:chr1_159893547_159893764_10000_1:chr1_159894759_159895495_11100_1 3 . -1 -1 . -1 . . . . . . . chr1 159892517 159895784 TAGLN2 F chr1_159892690_159892883_11000_1 1 . -1 -1 . -1 . . . . . . . chr1 159914077 159914586 IGSF9 F chr1_159914280_159914663_10101_1:chr1_159915483_159915886_10000_1 2 . -1 -1 . -1 . . . . . . . chr1 159914131 159915886 IGSF9 F chr1_159914280_159914663_10101_1 1 . -1 -1 . -1 . . . . . . . chr1 160316870 160317108 NCSTN F chr1_160312987_160313159_11100_1 1 . -1 -1 . -1 . . . . . . . chr1 160989381 160990254 F11R F chr1_160991008_160991260_11101_1 1 . -1 -1 . -1 . . . . . . . chr1 161991847 161991976 OLFML2B F chr1_161994126_161994144_11000_1 1 . -1 -1 . -1 . . . . . . . chr1 166954369 166954473 MAEL F chr1_166958175_166958375_11010_1 1 . -1 -1 . -1 . . . . . . . chr1 167518595 167519106 CREG1 F chr1_167522365_167522554_11101_1:chr1_167523022_167523231_11101_2 2 . -1 -1 . -1 . . . . . . . chr1 167520671 167521013 CREG1 F chr1_167522365_167522554_11101_1:chr1_167523022_167523231_11101_2 2 . -1 -1 . -1 . . . . . . . chr1 169071998 169072131 ATP1B1 F chr1_169074620_169075657_11110_3 1 . -1 -1 . -1 . . . . . . . chr1 169553904 169556269 F5 F chr1_169554034_169554276_11110_2 1 chr1 169555466 169555467 CS121360 - 2 DM NULL F5 Factor V deficiency GAGCTACCGACCTGAGCCCACAAACTCAAG[G/A]taactcaggtgtggagtccgggtgggcttc 22251029 chr1 169553917 169554291 F5 F chr1_169554034_169554276_11110_2:chr1_169555662_169555998_11111_1 2 . -1 -1 . -1 . . . . . . . chr1 169554315 169554804 F5 F chr1_169555662_169555998_11111_1 1 . -1 -1 . -1 . . . . . . . chr1 169554359 169556269 F5 F chr1_169554034_169554276_11110_2 1 chr1 169555466 169555467 CS121360 - 2 DM NULL F5 Factor V deficiency GAGCTACCGACCTGAGCCCACAAACTCAAG[G/A]taactcaggtgtggagtccgggtgggcttc 22251029 chr1 169860198 169863576 SCYL3 F chr1_169860701_169860788_11100_1 1 . -1 -1 . -1 . . . . . . . chr1 169860308 169860488 SCYL3 F chr1_169860701_169860918_11100_1 1 . -1 -1 . -1 . . . . . . . chr1 172418332 172419560 C1orf105 S chr1_172795683_172795800_11000_2 1 . -1 -1 . -1 . . . . . . . chr1 173445985 173447714 PRDX6 F chr1_173447059_173447505_10000_2 1 . -1 -1 . -1 . . . . . . . chr1 173447359 173447668 PRDX6 F chr1_173445985_173446265_10000_2:chr1_173447006_173447505_10000_2 2 . -1 -1 . -1 . . . . . . . chr1 175158150 175158288 KIAA0040 F chr1_175160346_175160451_10000_1:chr1_175160346_175160451_10000_1:chr1_175160889_175161053_10111_1:chr1_175160889_175161053_10111_1:chr1_175162009_175162449_11111_2:chr1_175162009_175162487_11111_2 6 . -1 -1 . -1 . . . . . . . chr1 175160805 175162449 KIAA0040 F chr1_175160889_175161053_10111_1 1 . -1 -1 . -1 . . . . . . . chr1 175160805 175162729 KIAA0040 F chr1_175160889_175161053_10111_1 1 . -1 -1 . -1 . . . . . . . chr1 175160901 175161109 KIAA0040 F chr1_175160889_175161053_10111_1:chr1_175160889_175161053_10111_1:chr1_175162009_175162449_11111_2:chr1_175162009_175162487_11111_2 4 . -1 -1 . -1 . . . . . . . chr1 176174471 176174980 RFWD2 F chr1_176174525_176174719_10000_1:chr1_176176661_176176866_00000_1 2 . -1 -1 . -1 . . . . . . . chr1 176174525 176176870 RFWD2 F chr1_176174466_176174719_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 178511084 178512553 ENSG00000184909 S chr1_179073984_179074407_11100_3 1 . -1 -1 . -1 . . . . . . . chr1 179073785 179074705 ENSG00000184909 S chr1_178511363_178511553_10010_1:chr1_178512281_178512503_10000_2 2 . -1 -1 . -1 . . . . . . . chr1 181056649 181057124 IER5 F chr1_181057252_181057907_11111_2 1 . -1 -1 . -1 . . . . . . . chr1 181056686 181058138 IER5 F chr1_181057252_181057424_11111_2 1 . -1 -1 . -1 . . . . . . . chr1 181060502 181060611 IER5 F chr1_181057252_181057907_11111_2:chr1_181059427_181059576_10101_2:chr1_181059831_181060007_10001_1 3 . -1 -1 . -1 . . . . . . . chr1 182363463 182363693 GLUL F chr1_182360912_182361093_11100_1:chr1_182360912_182361093_11100_1 2 . -1 -1 . -1 . . . . . . . chr1 185127324 185127657 SWT1 F chr1_185126033_185126371_11111_2:chr1_185126033_185126371_11111_2 2 . -1 -1 . -1 . . . . . . . chr1 198124316 198124670 NEK7 F chr1_198126023_198126202_11101_2 1 . -1 -1 . -1 . . . . . . . chr1 200863448 200865542 C1orf106 F chr1_200865693_200865718_10111_2 1 . -1 -1 . -1 . . . . . . . chr1 200863448 200866062 C1orf106 F chr1_200865693_200866132_10111_2 1 . -1 -1 . -1 . . . . . . . chr1 200865457 200866265 C1orf106 F chr1_200865693_200866062_10111_2 1 . -1 -1 . -1 . . . . . . . chr1 201366294 201369169 LAD1 F chr1_201366139_201366438_00000_2 1 . -1 -1 . -1 . . . . . . . chr1 201366439 201366550 LAD1 F chr1_201366294_201366438_00000_2:chr1_201366934_201367192_11100_1:chr1_201368429_201368705_11100_2:chr1_201369019_201369169_11000_1 4 . -1 -1 . -1 . . . . . . . chr1 201463619 201463933 CSRP1 F chr1_201464830_201465326_11000_2 1 . -1 -1 . -1 . . . . . . . chr1 201472589 201472996 CSRP1 F chr1_201472655_201472845_11000_1:chr1_201472655_201472845_11000_1:chr1_201473942_201474057_10000_1:chr1_201473942_201474057_10000_1:chr1_201475691_201475808_11000_1:chr1_201475691_201475808_11000_1:chr1_201476216_201476395_11000_1:chr1_201476216_201476395_11000_1 8 . -1 -1 . -1 . . . . . . . chr1 201472592 201476467 CSRP1 F chr1_201472289_201472371_10000_2:chr1_201472655_201472845_11000_1 2 . -1 -1 . -1 . . . . . . . chr1 201472592 201476887 CSRP1 F chr1_201472289_201472371_10000_2:chr1_201472655_201472845_11000_1 2 . -1 -1 . -1 . . . . . . . chr1 203830276 203831267 SNRPE S chr1_204223263_204223643_10000_4 1 chr1 203830788 203830789 CM130275 + 1 DM NULL SNRPE Hypotrichosis simplex: autosomal dominant gtgcgggtgtgctctttgtgaaattccacc[A/G]TGGCGTACCGTGGCCAGGGTCAGAAAGTGC 23246290 chr1 204223040 204223743 SNRPE S chr1_203830529_203830856_11101_2:chr1_203831132_203831267_10000_2 2 . -1 -1 . -1 . . . . . . . chr1 204383374 204383435 PPP1R15B F chr1_204381016_204381370_11101_2 1 . -1 -1 . -1 . . . . . . . chr1 204486309 204486424 MDM4 F chr1_204485277_204485713_11101_2 1 . -1 -1 . -1 . . . . . . . chr1 205016149 205016268 CNTN2 F chr1_205014386_205014612_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 205288642 205291383 NUAK2 F chr1_205288719_205288974_11101_3 1 . -1 -1 . -1 . . . . . . . chr1 205288770 205288915 NUAK2 F chr1_205288719_205288974_11101_3:chr1_205290764_205290881_11100_1:chr1_205290872_205291383_11101_3 3 . -1 -1 . -1 . . . . . . . chr1 205645736 205650130 SLC45A3 F chr1_205646316_205646352_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 205645820 205646052 SLC45A3 F chr1_205646316_205646523_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 207098778 207098999 FAIM3 F chr1_207095127_207095250_10100_1:chr1_207095127_207095250_10100_1 2 . -1 -1 . -1 . . . . . . . chr1 207203424 207203586 C1orf116 F chr1_207204986_207205224_11000_2 1 . -1 -1 . -1 . . . . . . . chr1 208417164 208418946 PLXNA2 F chr1_208418677_208418787_10101_1 1 . -1 -1 . -1 . . . . . . . chr1 208418631 208418859 PLXNA2 F chr1_208417802_208417960_11000_1:chr1_208418677_208418787_10101_1 2 . -1 -1 . -1 . . . . . . . chr1 209824178 209829113 LAMB3 F chr1_209828920_209829050_10000_1 1 chr1 209824259 209824260 CI962302 - 6 DM NULL LAMB3 Epidermolysis bullosa: junctional ATGAGACCATTCTTCCTCTTGTGTTTTGGT[-/T]AAGTACCCCTTCCCATCCTTCCAGGCCCTG 8824879 chr1 209824178 209829113 LAMB3 F chr1_209828920_209829050_10000_1 1 chr1 209824287 209824288 CM003830 - 1 DM NULL LAMB3 Epidermolysis bullosa: Herlitz tttctggggatcaccccattggctgaagAT[G/A]AGACCATTCTTCCTCTTGTGTTTTGgtaag 10949552 chr1 209825173 209827699 LAMB3 F chr1_209827349_209827569_10010_2 1 . -1 -1 . -1 . . . . . . . chr1 209825173 209829541 LAMB3 F chr1_209828920_209829050_10000_1:chr1_209829578_209829798_10001_2 2 . -1 -1 . -1 . . . . . . . chr1 209825319 209827699 LAMB3 F chr1_209827349_209827569_10010_2 1 . -1 -1 . -1 . . . . . . . chr1 209825319 209829541 LAMB3 F chr1_209828920_209829050_10000_1:chr1_209829578_209829798_10001_2 2 . -1 -1 . -1 . . . . . . . chr1 209827285 209827712 LAMB3 F chr1_209826421_209826622_10010_1:chr1_209826421_209826622_10010_1:chr1_209827349_209827569_10010_2:chr1_209827349_209827569_10010_2 4 . -1 -1 . -1 . . . . . . . chr1 209828801 209829023 LAMB3 F chr1_209826421_209826622_10010_1:chr1_209827349_209827569_10010_2:chr1_209828920_209829050_10000_1 3 . -1 -1 . -1 . . . . . . . chr1 209829183 209829498 LAMB3 F chr1_209826421_209826622_10010_1:chr1_209826421_209826622_10010_1:chr1_209827349_209827569_10010_2:chr1_209827349_209827569_10010_2:chr1_209828920_209829050_10000_1:chr1_209828920_209829050_10000_1 6 . -1 -1 . -1 . . . . . . . chr1 210505670 210505997 HHAT F chr1_210502155_210502345_11000_1:chr1_210502155_210502345_11000_1:chr1_210502581_210503083_11101_2:chr1_210502581_210503083_11101_2:chr1_210503768_210503890_10101_1:chr1_210503768_210503890_10101_1 6 . -1 -1 . -1 . . . . . . . chr1 210546816 210547800 RNU5A-8P S chr1_210547800_210547901_10000_4 1 . -1 -1 . -1 . . . . . . . chr1 210547800 210547901 RNU5A-8P S chr1_210546903_210547800_10000_4 1 . -1 -1 . -1 . . . . . . . chr1 212457966 212459379 PPP2R5A F chr1_212457942_212458553_11111_1 1 . -1 -1 . -1 . . . . . . . chr1 212458080 212458253 PPP2R5A F chr1_212457966_212458742_11111_1:chr1_212459085_212459252_10100_1 2 . -1 -1 . -1 . . . . . . . chr1 214157858 214157941 PROX1 F chr1_214159385_214159573_11100_2:chr1_214160518_214160619_11110_1 2 . -1 -1 . -1 . . . . . . . chr1 214161359 214163151 PROX1 F chr1_214162816_214163116_11111_3 1 . -1 -1 . -1 . . . . . . . chr1 214162828 214163073 PROX1 F chr1_214162816_214163116_11111_3 1 . -1 -1 . -1 . . . . . . . chr1 215741534 215741966 KCTD3 F chr1_215740306_215740721_10100_2 1 . -1 -1 . -1 . . . . . . . chr1 221049992 221050390 HLX F chr1_221052562_221052722_11101_1 1 . -1 -1 . -1 . . . . . . . chr1 221050798 221050949 HLX F chr1_221052562_221052722_11101_1 1 . -1 -1 . -1 . . . . . . . chr1 221913881 221914483 DUSP10 F chr1_221915306_221915815_11101_4 1 . -1 -1 . -1 . . . . . . . chr1 221915015 221916525 DUSP10 F chr1_221915749_221915815_11101_4:chr1_221916275_221916492_11100_1 2 . -1 -1 . -1 . . . . . . . chr1 221916049 221916599 DUSP10 F chr1_221915306_221915815_11101_4:chr1_221916275_221916492_11100_1 2 . -1 -1 . -1 . . . . . . . chr1 222987149 222987502 DISP1 F chr1_222987985_222988235_10100_2 1 . -1 -1 . -1 . . . . . . . chr1 224544094 224545975 CNIH4 F chr1_224545322_224545735_11001_2 1 . -1 -1 . -1 . . . . . . . chr1 224545542 224546006 CNIH4 F chr1_224545322_224545735_11001_2 1 . -1 -1 . -1 . . . . . . . chr1 225613143 225613456 LBR F chr1_225614556_225614719_11010_1:chr1_225614556_225614719_11010_1:chr1_225615685_225615925_11000_2:chr1_225615685_225615925_11000_2 4 . -1 -1 . -1 . . . . . . . chr1 226012501 226014475 EPHX1 F chr1_226014177_226014375_11000_4 1 . -1 -1 . -1 . . . . . . . chr1 226014145 226014403 EPHX1 F chr1_226012627_226013087_11000_3:chr1_226014177_226014375_11000_4 2 . -1 -1 . -1 . . . . . . . chr1 226187685 226188168 C1orf55 F chr1_226187013_226187170_11111_1 1 . -1 -1 . -1 . . . . . . . chr1 226189681 226190319 C1orf55 F chr1_226187013_226187170_11111_1 1 . -1 -1 . -1 . . . . . . . chr1 226190534 226190731 C1orf55 F chr1_226187013_226187170_11111_1 1 . -1 -1 . -1 . . . . . . . chr1 226370043 226374923 ACBD3 F chr1_226369849_226370054_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 226370122 226370365 ACBD3 F chr1_226370043_226370054_10000_1:chr1_226372811_226373010_11000_1:chr1_226374332_226374508_11000_2 3 . -1 -1 . -1 . . . . . . . chr1 226592689 226592838 PARP1 F chr1_226594364_226594562_11101_1:chr1_226595904_226596104_11001_1 2 . -1 -1 . -1 . . . . . . . chr1 227128899 227129131 ADCK3 F chr1_227127651_227128077_10111_2 1 . -1 -1 . -1 . . . . . . . chr1 228269860 228273811 ARF1 F chr1_228273491_228273635_11000_1 1 . -1 -1 . -1 . . . . . . . chr1 228270350 228273811 ARF1 F chr1_228273491_228273635_11000_1 1 . -1 -1 . -1 . . . . . . . chr1 228273480 228273740 ARF1 F chr1_228272190_228272410_11101_1:chr1_228272190_228272410_11101_1:chr1_228273491_228273635_11000_1:chr1_228273491_228273635_11000_1 4 . -1 -1 . -1 . . . . . . . chr1 229406378 229410027 RAB4A F chr1_229409624_229409798_11101_3 1 . -1 -1 . -1 . . . . . . . chr1 229409656 229409997 RAB4A F chr1_229406378_229406897_11010_3:chr1_229407365_229407487_11010_1:chr1_229409624_229409798_11101_3 3 . -1 -1 . -1 . . . . . . . chr1 229690998 229691240 ABCB10 F chr1_229694433_229694942_11010_1 1 . -1 -1 . -1 . . . . . . . chr1 229692979 229693368 ABCB10 F chr1_229694433_229694942_11010_1 1 . -1 -1 . -1 . . . . . . . chr1 230202364 230204131 GALNT2 S chr1_230838780_230839025_10010_1 1 . -1 -1 . -1 . . . . . . . chr1 230837600 230839200 AGT S chr1_230848307_230848440_10111_1:chr1_230849833_230850481_11111_4 2 chr1 230838973 230838974 CM120997 - 1 DM rs375261929 AGT Renal tubular dysgenesis AAGCCTGAGGTCTTGGAGGTGACCCTGAAC[C/T]GCCCATTCCTGTTTGCTGTGTATGATCAAA 22095942 chr1 230837600 230839200 AGT S chr1_230848307_230848440_10111_1:chr1_230849833_230850481_11111_4 2 chr1 230839055 230839056 CD065661 - 5 DM NULL AGT Renal tubular dysgenesis TGCTTTGCAGGTGCTGAACAGCATTTTTTT[T/-]GAGCTTGAAGCGGATGAGAGAGAGCCCACA 17036344 chr1 230837600 230839200 GALNT2 S chr1_230202364_230202464_10000_1:chr1_230202705_230202863_10000_1 2 chr1 230838973 230838974 CM120997 - 1 DM rs375261929 AGT Renal tubular dysgenesis AAGCCTGAGGTCTTGGAGGTGACCCTGAAC[C/T]GCCCATTCCTGTTTGCTGTGTATGATCAAA 22095942 chr1 230837600 230839200 GALNT2 S chr1_230202364_230202464_10000_1:chr1_230202705_230202863_10000_1 2 chr1 230839055 230839056 CD065661 - 5 DM NULL AGT Renal tubular dysgenesis TGCTTTGCAGGTGCTGAACAGCATTTTTTT[T/-]GAGCTTGAAGCGGATGAGAGAGAGCCCACA 17036344 chr1 230837600 230839200 SPRTN S chr1_231473598_231473856_11010_1 1 chr1 230838973 230838974 CM120997 - 1 DM rs375261929 AGT Renal tubular dysgenesis AAGCCTGAGGTCTTGGAGGTGACCCTGAAC[C/T]GCCCATTCCTGTTTGCTGTGTATGATCAAA 22095942 chr1 230837600 230839200 SPRTN S chr1_231473598_231473856_11010_1 1 chr1 230839055 230839056 CD065661 - 5 DM NULL AGT Renal tubular dysgenesis TGCTTTGCAGGTGCTGAACAGCATTTTTTT[T/-]GAGCTTGAAGCGGATGAGAGAGAGCCCACA 17036344 chr1 230837600 230839200 TTC13 S chr1_231114599_231114849_11111_1 1 chr1 230838973 230838974 CM120997 - 1 DM rs375261929 AGT Renal tubular dysgenesis AAGCCTGAGGTCTTGGAGGTGACCCTGAAC[C/T]GCCCATTCCTGTTTGCTGTGTATGATCAAA 22095942 chr1 230837600 230839200 TTC13 S chr1_231114599_231114849_11111_1 1 chr1 230839055 230839056 CD065661 - 5 DM NULL AGT Renal tubular dysgenesis TGCTTTGCAGGTGCTGAACAGCATTTTTTT[T/-]GAGCTTGAAGCGGATGAGAGAGAGCCCACA 17036344 chr1 230848304 230848806 AGT S chr1_230838780_230839025_10010_1 1 . -1 -1 . -1 . . . . . . . chr1 230849326 230850602 AGT S chr1_230838780_230839025_10010_1 1 chr1 230849872 230849873 CR971935 - 3 DFP rs5051 AGT Hypertension: association with CAGCTATAAATAGGGCATCGTGACCCGGCC[G/A]GGGGAAGAAGCTGCCGTTGTTCTGGGTACT 9120024 chr1 230849326 230850602 AGT S chr1_230838780_230839025_10010_1 1 chr1 230849884 230849885 CR971936 - 3 DP rs1800585 AGT Hypertension: association with ATCCCCACCCCTCAGCTATAAATAGGGCAT[C/T]GTGACCCGGCCGGGGGAAGAAGCTGCCGTT 9314411 chr1 230849326 230850602 AGT S chr1_230838780_230839025_10010_1 1 chr1 230849886 230849887 CR973338 - 3 DFP rs5050 AGT Hypertension: association with CCATCCCCACCCCTCAGCTATAAATAGGGC[A/C]TCGTGACCCGGCCGGGGGAAGAAGCTGCCG 9403548 chr1 230849326 230850602 AGT S chr1_230838780_230839025_10010_1 1 chr1 230850083 230850084 CR023696 - 3 DFP rs5049 AGT Hypertension: association with TTCGGTAAATGTGTAACTCGACCCTGCACC[A/G]GCTCACTCTGTTCAGCAGTGAAACTCTGCA 12145290 chr1 230849326 230850602 AGT S chr1_230838780_230839025_10010_1 1 chr1 230850398 230850399 CR025943 - 3 DP rs5046 AGT Increased angiotensinogen levels: association with GAAGGCACTTTTCACTTGCTTGTGTGTTTT[C/T]CCCAGTGTCTATTAGAGGCCTTTGCACAGG 12404103 chr1 231002258 231002436 C1orf198 F chr1_231003961_231004159_11010_1:chr1_231003961_231004159_11010_1 2 . -1 -1 . -1 . . . . . . . chr1 231113054 231113423 TTC13 F chr1_231114599_231114849_11111_1 1 . -1 -1 . -1 . . . . . . . chr1 231114332 231115191 TTC13 S chr1_230838780_230839025_10010_1 1 . -1 -1 . -1 . . . . . . . chr1 231472894 231474440 SPRTN S chr1_230838780_230839025_10010_1 1 . -1 -1 . -1 . . . . . . . chr1 231557383 231558630 EGLN1 S chr1_230838780_230839025_10010_1 1 chr1 231557623 231557624 CM134523 - 1 DP rs186996510 EGLN1 Reduced haemoglobin levels: association with cgccgccgccgccgccgccATGGCCAATGA[C/G]AGCGGCGGGCCCGGCGGGCCGAGCCCGAGC 23666208 chr1 233750790 233751092 KCNK1 F chr1_233749249_233749446_10000_3 1 . -1 -1 . -1 . . . . . . . chr1 234742870 234745395 IRF2BP2 S chr1_234748400_234748600_11110_4:chr1_234754376_234754543_11100_1:chr1_234755567_234755978_11110_3:chr1_234756837_234757129_10010_1 4 . -1 -1 . -1 . . . . . . . chr1 234744770 234747084 IRF2BP2 F chr1_234746510_234746658_11110_1:chr1_234746695_234747200_11110_2:chr1_234747637_234747938_10110_2 3 . -1 -1 . -1 . . . . . . . chr1 234744770 234748716 IRF2BP2 F chr1_234747800_234747938_10110_2:chr1_234748266_234748824_11110_4 2 . -1 -1 . -1 . . . . . . . chr1 234744770 234749694 IRF2BP2 F chr1_234749342_234749561_11010_1 1 . -1 -1 . -1 . . . . . . . chr1 234745558 234748400 IRF2BP2 S chr1_234748400_234748600_11110_4:chr1_234754376_234754543_11100_1:chr1_234755567_234755978_11110_3:chr1_234756837_234757129_10010_1:chr1_234774896_234775313_11000_3:chr1_234859929_234860400_10010_3:chr1_235109495_235109983_11010_4:chr1_235110857_235111200_11010_3 8 . -1 -1 . -1 . . . . . . . chr1 234746093 234747674 IRF2BP2 F chr1_234746510_234746658_11110_1:chr1_234746695_234747084_11110_2 2 . -1 -1 . -1 . . . . . . . chr1 234748100 234748931 IRF2BP2 F chr1_234746510_234746658_11110_1:chr1_234746695_234747200_11110_2:chr1_234747637_234747938_10110_2:chr1_234748266_234748716_11110_4 4 . -1 -1 . -1 . . . . . . . chr1 234748400 234748600 IRF2BP2 S chr1_234746510_234746658_11110_1:chr1_234746695_234747200_11110_2:chr1_234747637_234747938_10110_2:chr1_234748266_234748400_11110_4 4 . -1 -1 . -1 . . . . . . . chr1 234749342 234749645 IRF2BP2 F chr1_234746510_234746658_11110_1:chr1_234746695_234747200_11110_2:chr1_234747637_234747938_10110_2:chr1_234748266_234748824_11110_4:chr1_234749342_234749561_11010_1 5 . -1 -1 . -1 . . . . . . . chr1 234754255 234757209 B3GALNT2 S chr1_235667826_235668449_11000_3 1 . -1 -1 . -1 . . . . . . . chr1 234754255 234757209 ENSG00000237520 S chr1_235093163_235093387_11111_4:chr1_235093901_235094072_10110_1 2 . -1 -1 . -1 . . . . . . . chr1 234754255 234757209 IRF2BP2 S chr1_234746510_234746658_11110_1:chr1_234746695_234747200_11110_2:chr1_234747637_234747938_10110_2:chr1_234748266_234748400_11110_4 4 . -1 -1 . -1 . . . . . . . chr1 234774287 234775887 IRF2BP2 S chr1_234746510_234746658_11110_1:chr1_234746695_234747200_11110_2:chr1_234747637_234747938_10110_2:chr1_234748266_234748400_11110_4 4 . -1 -1 . -1 . . . . . . . chr1 234859800 234860400 B3GALNT2 S chr1_235667826_235668449_11000_3 1 . -1 -1 . -1 . . . . . . . chr1 234859800 234860400 IRF2BP2 S chr1_234746510_234746658_11110_1:chr1_234746695_234747200_11110_2:chr1_234747637_234747938_10110_2:chr1_234748266_234748400_11110_4 4 . -1 -1 . -1 . . . . . . . chr1 235092600 235094200 ENSG00000237520 S chr1_234754376_234754543_11100_1:chr1_234755567_234755978_11110_3:chr1_234756837_234757129_10010_1 3 . -1 -1 . -1 . . . . . . . chr1 235109392 235111200 IRF2BP2 S chr1_234746510_234746658_11110_1:chr1_234746695_234747200_11110_2:chr1_234747637_234747938_10110_2:chr1_234748266_234748400_11110_4 4 . -1 -1 . -1 . . . . . . . chr1 235666999 235668761 B3GALNT2 S chr1_234754376_234754543_11100_1:chr1_234755567_234755978_11110_3:chr1_234756837_234757129_10010_1:chr1_234859929_234860400_10010_3 4 . -1 -1 . -1 . . . . . . . chr1 236025805 236026204 LYST F chr1_236030256_236030434_11010_1 1 . -1 -1 . -1 . . . . . . . chr1 236026265 236026446 LYST F chr1_236030256_236030434_11010_1 1 . -1 -1 . -1 . . . . . . . chr1 236026992 236027471 LYST F chr1_236030256_236030434_11010_1 1 . -1 -1 . -1 . . . . . . . chr1 236029548 236029752 LYST S chr1_235113852_235114020_10111_1:chr1_235114441_235114911_11111_4 2 . -1 -1 . -1 . . . . . . . chr1 236029719 236031685 LYST F chr1_236030855_236030956_11000_1 1 . -1 -1 . -1 . . . . . . . chr1 236031049 236031919 LYST F chr1_236030256_236030434_11010_1:chr1_236030855_236030956_11000_1 2 . -1 -1 . -1 . . . . . . . chr1 237206585 237207004 RYR2 F chr1_237205201_237205210_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 241693216 241693255 KMO F chr1_241694571_241694770_11000_2:chr1_241695573_241695690_11111_1 2 . -1 -1 . -1 . . . . . . . chr1 241694933 241697195 KMO F chr1_241696398_241696533_11101_1 1 . -1 -1 . -1 . . . . . . . chr1 241696334 241697654 KMO F chr1_241695573_241695690_11111_1:chr1_241696398_241696533_11101_1 2 . -1 -1 . -1 . . . . . . . chr1 244215508 244215901 ZNF238 F chr1_244216401_244216515_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 246729138 246730989 CNST F chr1_246730589_246730715_10000_1 1 . -1 -1 . -1 . . . . . . . chr1 246730569 246731007 CNST F chr1_246729468_246729821_10111_2:chr1_246730589_246730715_10000_1 2 . -1 -1 . -1 . . . . . . . chr1 246732690 246733040 CNST F chr1_246729468_246729821_10111_2:chr1_246730589_246730715_10000_1 2 . -1 -1 . -1 . . . . . . . chr1 249117788 249118228 SH3BP5L F chr1_249120466_249120654_10010_2 1 . -1 -1 . -1 . . . . . . . chr1 249157308 249157673 ZNF692 F chr1_249153237_249153360_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 3469099 3470600 ENSG00000242282 S chr2_3583938_3584068_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 3469099 3470600 RPS7 S chr2_3622714_3622914_11011_2 1 . -1 -1 . -1 . . . . . . . chr2 9692579 9693026 ADAM17 F chr2_9695910_9696235_11111_1 1 . -1 -1 . -1 . . . . . . . chr2 10260365 10260994 RRM2 F chr2_10260479_10261257_10000_3:chr2_10260479_10261257_10000_3 2 . -1 -1 . -1 . . . . . . . chr2 10260479 10263195 RRM2 F chr2_10260461_10261257_10000_3 1 . -1 -1 . -1 . . . . . . . chr2 10260479 10263363 RRM2 F chr2_10260461_10261257_10000_3 1 . -1 -1 . -1 . . . . . . . chr2 10587574 10589561 ODC1 S chr2_11497495_11497883_11000_2 1 chr2 10588138 10588139 CR033518 - 3 FP rs2302615 ODC1 Increased expression GCACGTGTGCGGCGCGCCTCGCCGGCCTGC[G/A]GAGACACGTGGTCGCCGAGCGGGCCACGAC 11103791 chr2 10589808 10590775 ODC1 S chr2_11497495_11497883_11000_2 1 . -1 -1 . -1 . . . . . . . chr2 11270081 11270242 C2orf50 F chr2_11272886_11273286_10001_2 1 . -1 -1 . -1 . . . . . . . chr2 11482707 11485819 ROCK2 S chr2_11497495_11497883_11000_2 1 . -1 -1 . -1 . . . . . . . chr2 11493466 11496463 E2F6 S chr2_11605642_11605729_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 11493466 11496463 GREB1 S chr2_11679549_11679816_10100_2 1 . -1 -1 . -1 . . . . . . . chr2 11493466 11496463 ODC1 S chr2_10587632_10587762_11000_1:chr2_10588436_10588937_10000_1:chr2_10590066_10590432_10000_2:chr2_10590674_10590775_10000_1 4 . -1 -1 . -1 . . . . . . . chr2 11493466 11496463 ROCK2 S chr2_11482707_11482793_10010_1:chr2_11482984_11483441_11010_2:chr2_11485593_11485819_10000_2 3 . -1 -1 . -1 . . . . . . . chr2 11497381 11498750 E2F6 S chr2_11605642_11605729_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 11497381 11498750 GREB1 S chr2_11679549_11679816_10100_2 1 . -1 -1 . -1 . . . . . . . chr2 11497381 11498750 ODC1 S chr2_10587632_10587762_11000_1:chr2_10588436_10588937_10000_1:chr2_10590066_10590432_10000_2:chr2_10590674_10590775_10000_1 4 . -1 -1 . -1 . . . . . . . chr2 11497381 11498750 ROCK2 S chr2_11482707_11482793_10010_1:chr2_11482984_11483441_11010_2:chr2_11485593_11485819_10000_2 3 . -1 -1 . -1 . . . . . . . chr2 11503733 11506015 ENSG00000230952 S chr2_11497495_11497883_11000_2 1 . -1 -1 . -1 . . . . . . . chr2 11506200 11506890 E2F6 S chr2_11605642_11605729_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 11605642 11606641 E2F6 S chr2_11497495_11497883_11000_2:chr2_11506429_11506753_10000_3 2 . -1 -1 . -1 . . . . . . . chr2 11679400 11680378 GREB1 S chr2_11497495_11497883_11000_2 1 . -1 -1 . -1 . . . . . . . chr2 11882551 11882713 LPIN1 F chr2_11884279_11884472_11000_1 1 . -1 -1 . -1 . . . . . . . chr2 15734291 15734400 DDX1 F chr2_15731939_15732049_11101_1 1 . -1 -1 . -1 . . . . . . . chr2 16084165 16084643 MYCN F chr2_16080182_16080299_11000_1 1 . -1 -1 . -1 . . . . . . . chr2 26032336 26033000 HADHA S chr2_26467411_26468090_11110_1 1 . -1 -1 . -1 . . . . . . . chr2 26174091 26174187 KIF3C S chr2_26010006_26010280_00000_3:chr2_26220655_26220945_11000_2 2 . -1 -1 . -1 . . . . . . . chr2 26220424 26221128 HADHA S chr2_26467411_26468090_11110_1 1 . -1 -1 . -1 . . . . . . . chr2 26258152 26258567 RAB10 F chr2_26256245_26256430_11000_1:chr2_26256717_26257007_11111_1 2 . -1 -1 . -1 . . . . . . . chr2 26259161 26259559 RAB10 F chr2_26256245_26256430_11000_1:chr2_26256717_26257007_11111_1 2 . -1 -1 . -1 . . . . . . . chr2 26266600 26266752 HADHA S chr2_26467411_26468090_11110_1 1 . -1 -1 . -1 . . . . . . . chr2 26266844 26267514 HADHA S chr2_26467411_26468090_11110_1 1 . -1 -1 . -1 . . . . . . . chr2 26466613 26468569 HADHA S chr2_26032613_26032854_10000_1:chr2_26220655_26220945_11000_2:chr2_26267329_26267514_10000_2 3 . -1 -1 . -1 . . . . . . . chr2 28974113 28976558 PPP1CB F chr2_28975879_28976041_10000_1:chr2_28976280_28976456_11000_1 2 . -1 -1 . -1 . . . . . . . chr2 28974125 28976558 PPP1CB F chr2_28975879_28976041_10000_1:chr2_28976280_28976456_11000_1 2 . -1 -1 . -1 . . . . . . . chr2 28976141 28976573 PPP1CB F chr2_28974236_28974822_11000_2:chr2_28974236_28974822_11000_2:chr2_28975879_28976041_10000_1:chr2_28975879_28976041_10000_1:chr2_28976280_28976456_11000_1:chr2_28976280_28976456_11000_1 6 . -1 -1 . -1 . . . . . . . chr2 30368089 30368170 YPEL5 F chr2_30369365_30369843_11001_2 1 . -1 -1 . -1 . . . . . . . chr2 33702756 33702976 RASGRP3 F chr2_33701379_33701810_11001_3 1 . -1 -1 . -1 . . . . . . . chr2 38145689 38147384 ATL2 S chr2_38604237_38604748_10111_1 1 . -1 -1 . -1 . . . . . . . chr2 38603310 38604953 ATL2 S chr2_38145891_38146227_10101_3:chr2_38147007_38147151_10101_2:chr2_38660043_38660382_11110_4 3 . -1 -1 . -1 . . . . . . . chr2 38603931 38607925 ATL2 F chr2_38607916_38608023_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 38607567 38607881 ATL2 F chr2_38604237_38604748_10111_1:chr2_38607916_38607925_10000_1 2 . -1 -1 . -1 . . . . . . . chr2 38659600 38660543 ATL2 S chr2_38604237_38604748_10111_1 1 . -1 -1 . -1 . . . . . . . chr2 38659600 38660543 HNRNPLL S chr2_38830045_38830243_11111_1 1 . -1 -1 . -1 . . . . . . . chr2 38829079 38830868 HNRNPLL S chr2_38660043_38660382_11110_4 1 . -1 -1 . -1 . . . . . . . chr2 38968255 38968400 ATL2 S chr2_38604237_38604748_10111_1 1 . -1 -1 . -1 . . . . . . . chr2 42720401 42722472 MTA3 S chr2_43520977_43521312_11010_3 1 . -1 -1 . -1 . . . . . . . chr2 43020336 43020977 HAAO F chr2_43019637_43019995_11000_1 1 . -1 -1 . -1 . . . . . . . chr2 43451253 43455800 ZFP36L2 S chr2_43520977_43521312_11010_3:chr2_43602992_43603263_11010_3:chr2_43683483_43683746_10000_2 3 . -1 -1 . -1 . . . . . . . chr2 43519939 43522092 ZFP36L2 S chr2_43453068_43453501_11010_2:chr2_43454091_43454614_11010_3:chr2_43454835_43455380_11010_1 3 . -1 -1 . -1 . . . . . . . chr2 43602516 43604044 ZFP36L2 S chr2_43453068_43453501_11010_2:chr2_43454091_43454614_11010_3:chr2_43454835_43455380_11010_1 3 . -1 -1 . -1 . . . . . . . chr2 43683182 43683904 ZFP36L2 S chr2_43453068_43453501_11010_2:chr2_43454091_43454614_11010_3:chr2_43454835_43455380_11010_1 3 . -1 -1 . -1 . . . . . . . chr2 46553073 46554000 CALM2 S chr2_47403809_47404082_11010_1 1 . -1 -1 . -1 . . . . . . . chr2 46765593 46765767 RHOQ F chr2_46768747_46768892_10000_1:chr2_46769359_46769585_10100_1 2 . -1 -1 . -1 . . . . . . . chr2 46928465 46928698 SOCS5 F chr2_46925984_46926174_11000_1:chr2_46925984_46926174_11000_1:chr2_46927724_46927869_11000_1:chr2_46927724_46927869_11000_1 4 . -1 -1 . -1 . . . . . . . chr2 47215744 47216727 CALM2 S chr2_47403809_47404082_11010_1 1 . -1 -1 . -1 . . . . . . . chr2 47215744 47216727 TTC7A S chr2_47261576_47261936_11000_2 1 . -1 -1 . -1 . . . . . . . chr2 47270043 47271019 TTC7A S chr2_47261576_47261936_11000_2 1 . -1 -1 . -1 . . . . . . . chr2 47402018 47404359 CALM2 S chr2_46553406_46553746_11111_3 1 . -1 -1 . -1 . . . . . . . chr2 47540020 47540552 CALM2 S chr2_47403809_47404082_11010_1 1 . -1 -1 . -1 . . . . . . . chr2 47540020 47540552 TTC7A S chr2_47261576_47261936_11000_2 1 . -1 -1 . -1 . . . . . . . chr2 54196339 54196842 PSME4 F chr2_54196513_54196735_11011_4 1 . -1 -1 . -1 . . . . . . . chr2 54196390 54198477 PSME4 F chr2_54196513_54196735_11011_4 1 . -1 -1 . -1 . . . . . . . chr2 54342385 54343345 ACYP2 S chr2_54897200_54897304_11000_2 1 . -1 -1 . -1 . . . . . . . chr2 54725221 54725318 ENSG00000228108 S chr2_54772917_54773457_10000_4 1 . -1 -1 . -1 . . . . . . . chr2 54725221 54725318 RTN4 S chr2_55277770_55277931_11100_1 1 . -1 -1 . -1 . . . . . . . chr2 54725454 54725661 RTN4 S chr2_55277770_55277931_11100_1 1 . -1 -1 . -1 . . . . . . . chr2 54785030 54787834 SPTBN1 F chr2_54787203_54787217_11111_2:chr2_54787864_54787984_10010_1 2 . -1 -1 . -1 . . . . . . . chr2 54787503 54787764 SPTBN1 F chr2_54786967_54787217_11111_2 1 . -1 -1 . -1 . . . . . . . chr2 54897200 54897600 ACYP2 S chr2_54342433_54342688_11110_2:chr2_54343009_54343172_10101_1 2 . -1 -1 . -1 . . . . . . . chr2 54897200 54897600 RTN4 S chr2_55277770_55277931_11100_1 1 . -1 -1 . -1 . . . . . . . chr2 55275945 55278582 RTN4 S chr2_54897200_54897304_11000_2 1 . -1 -1 . -1 . . . . . . . chr2 55847337 55847641 SMEK2 S chr2_54897200_54897304_11000_2 1 . -1 -1 . -1 . . . . . . . chr2 60780132 60784687 BCL11A F chr2_60784033_60784229_11100_1 1 . -1 -1 . -1 . . . . . . . chr2 60784320 60784652 BCL11A F chr2_60783602_60783707_10110_1:chr2_60784033_60784229_11100_1 2 . -1 -1 . -1 . . . . . . . chr2 61112067 61112568 REL F chr2_61108305_61108785_11111_2 1 . -1 -1 . -1 . . . . . . . chr2 61697348 61699305 USP34 F chr2_61699107_61699256_10010_1 1 . -1 -1 . -1 . . . . . . . chr2 61698926 61699282 USP34 F chr2_61698293_61698414_10010_1:chr2_61699107_61699256_10010_1 2 . -1 -1 . -1 . . . . . . . chr2 64872240 64872562 ENSG00000226756 S chr2_63961662_63961882_11010_3 1 . -1 -1 . -1 . . . . . . . chr2 64879503 64881546 SERTAD2 F chr2_64879538_64879716_11110_1:chr2_64879984_64880092_11111_2 2 . -1 -1 . -1 . . . . . . . chr2 64879615 64879792 SERTAD2 F chr2_64879538_64879716_11110_1:chr2_64879984_64880112_11111_2 2 . -1 -1 . -1 . . . . . . . chr2 65657861 65658229 SPRED2 F chr2_65659632_65659991_11111_3 1 . -1 -1 . -1 . . . . . . . chr2 69405400 69406004 ANXA4 S chr2_70008513_70009200_10001_4 1 . -1 -1 . -1 . . . . . . . chr2 69500031 69500397 ANXA4 S chr2_70008513_70009200_10001_4 1 . -1 -1 . -1 . . . . . . . chr2 70007800 70009200 ANXA4 S chr2_69405536_69405668_00000_2:chr2_69500230_69500397_10000_3 2 . -1 -1 . -1 . . . . . . . chr2 70057532 70057914 GMCL1 F chr2_70056631_70056916_11111_2 1 . -1 -1 . -1 . . . . . . . chr2 70144957 70145388 MXD1 F chr2_70141674_70142132_11111_1 1 . -1 -1 . -1 . . . . . . . chr2 71679670 71681253 DYSF F chr2_71679900_71680040_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 71679813 71679928 DYSF F chr2_71679900_71680040_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 73114123 73115291 SPR S chr2_73228111_73228570_11000_3:chr2_73248104_73248214_10010_1:chr2_73248602_73248793_11000_2 3 chr2 73114352 73114353 CR092019 + 3 FP rs1876487 SPR Reduced expression TCTGTTGTCCCACTTGGCACGGACTGGGCT[C/A]CCGCCACGGTTTGACTTCCGCCACCAGCAA 19415819 chr2 73114123 73115291 SPR S chr2_73228111_73228570_11000_3:chr2_73248104_73248214_10010_1:chr2_73248602_73248793_11000_2 3 chr2 73114549 73114550 CR045494 + 3 DM NULL SPR Dystonia: dopa-responsive TGCCTGGTCTCGGGTGCCAGCGCCGCCGGC[G/A]GAGAACAGGAGCATGGAGGGCGGGCTGGGG 15241655 chr2 73114123 73115291 SPR S chr2_73228111_73228570_11000_3:chr2_73248104_73248214_10010_1:chr2_73248602_73248793_11000_2 3 chr2 73114865 73114866 CS112165 + 2 DM NULL SPR Tetrahydrobiopterin deficiency CTGCAGCGACTGCTGCTTATCAACAACGCG[G/T]gtaagaccccggggctggagcggactcccc 21431957 chr2 73228099 73228791 SPR S chr2_73114123_73114458_11010_2 1 . -1 -1 . -1 . . . . . . . chr2 73247583 73249377 SPR S chr2_73114123_73114458_11010_2 1 . -1 -1 . -1 . . . . . . . chr2 73383598 73383813 SMYD5 S chr2_73441287_73441422_11111_1:chr2_73441728_73442029_11000_1 2 . -1 -1 . -1 . . . . . . . chr2 74425283 74426624 MTHFD2 S chr2_74656754_74657062_10000_2:chr2_74657400_74657650_10000_1 2 . -1 -1 . -1 . . . . . . . chr2 74618400 74619354 DCTN1 S chr2_74656754_74657062_10000_2:chr2_74657400_74657650_10000_1 2 . -1 -1 . -1 . . . . . . . chr2 74656400 74657800 DCTN1 S chr2_74619124_74619273_11111_1 1 . -1 -1 . -1 . . . . . . . chr2 74656400 74657800 INO80B S chr2_74681920_74682275_11110_3 1 . -1 -1 . -1 . . . . . . . chr2 74656400 74657800 PCGF1 S chr2_74729501_74729813_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 74656400 74657800 RTKN S chr2_74669098_74669644_10000_2 1 . -1 -1 . -1 . . . . . . . chr2 74656400 74657800 TTC31 S chr2_74709896_74710231_11110_1 1 . -1 -1 . -1 . . . . . . . chr2 74665509 74665627 RTKN S chr2_74656754_74657062_10000_2:chr2_74657400_74657650_10000_1 2 . -1 -1 . -1 . . . . . . . chr2 74667014 74669844 RTKN S chr2_74656754_74657062_10000_2:chr2_74657400_74657650_10000_1:chr2_74716072_74716453_11000_3 3 . -1 -1 . -1 . . . . . . . chr2 74681920 74682581 INO80B S chr2_74656754_74657062_10000_2:chr2_74657400_74657650_10000_1:chr2_74716072_74716453_11000_3 3 . -1 -1 . -1 . . . . . . . chr2 74708974 74710745 TTC31 S chr2_74656754_74657062_10000_2:chr2_74657400_74657650_10000_1:chr2_75708604_75708790_11000_2 3 . -1 -1 . -1 . . . . . . . chr2 74715054 74716800 INO80B S chr2_74681920_74682275_11110_3 1 . -1 -1 . -1 . . . . . . . chr2 74715054 74716800 PCGF1 S chr2_74729501_74729813_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 74715054 74716800 RTKN S chr2_74669098_74669644_10000_2 1 . -1 -1 . -1 . . . . . . . chr2 74728298 74731165 PCGF1 S chr2_74656754_74657062_10000_2:chr2_74657400_74657650_10000_1:chr2_74716072_74716453_11000_3:chr2_75708604_75708790_11000_2 4 . -1 -1 . -1 . . . . . . . chr2 74752814 74753785 AUP1 S chr2_74656754_74657062_10000_2:chr2_74657400_74657650_10000_1:chr2_74716072_74716453_11000_3:chr2_75743613_75744000_11111_4 4 . -1 -1 . -1 . . . . . . . chr2 74756075 74757763 AUP1 S chr2_75743613_75744000_11111_4 1 chr2 74757210 74757211 CM1111540 + 1 DM? rs145946172 HTRA2 Parkinson disease CATGGCGGGCTTTGGGGGGCATTCGCTGGG[G/A]GAGGAGACCCCGTTTGACCCCTGACCTCCG 21338583 chr2 74756075 74757763 AUP1 S chr2_75743613_75744000_11111_4 1 chr2 74757239 74757240 CM1313412 + 1 DM? NULL HTRA2 Parkinson disease GGGAGGAGACCCCGTTTGACCCCTGACCTC[C/T]GGGCCCTGCTGACGTCAGGAACTTCTGACC 24337630 chr2 74756075 74757763 AUP1 S chr2_75743613_75744000_11111_4 1 chr2 74757554 74757555 CM052354 + 1 DP rs72470544 HTRA2 Parkinson disease: association with GTCCTCGCCGCCGTCCCTAGCCCGCCGCCC[G/T]CTTCTCCCCGGAGTCAGTACAACTTCATCG 15961413 chr2 74756075 74757763 AUP1 S chr2_75743613_75744000_11111_4 1 chr2 74757560 74757561 CM119969 + 1 DM NULL HTRA2 Parkinson disease GCCGCCGTCCCTAGCCCGCCGCCCGCTTCT[C/G]CCCGGAGTCAGTACAACTTCATCGCAGATG 21701785 chr2 74990702 74992902 DCTN1 S chr2_74619124_74619273_11111_1 1 . -1 -1 . -1 . . . . . . . chr2 75060794 75062728 HK2 S chr2_74656754_74657062_10000_2:chr2_74657400_74657650_10000_1 2 . -1 -1 . -1 . . . . . . . chr2 75185395 75186262 POLE4 S chr2_74656754_74657062_10000_2:chr2_74657400_74657650_10000_1:chr2_75743613_75744000_11111_4 3 . -1 -1 . -1 . . . . . . . chr2 75708009 75709101 PCGF1 S chr2_74729501_74729813_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 75708009 75709101 TTC31 S chr2_74709896_74710231_11110_1 1 . -1 -1 . -1 . . . . . . . chr2 75742914 75744000 AUP1 S chr2_74756253_74756413_10010_1:chr2_74756767_74757078_10010_2 2 . -1 -1 . -1 . . . . . . . chr2 75744570 75745389 EVA1A S chr2_75743613_75744000_11111_4 1 . -1 -1 . -1 . . . . . . . chr2 85647666 85648785 CAPG S chr2_86623490_86623701_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 85661417 85665271 SH2D6 F chr2_85664691_85664908_11100_1 1 . -1 -1 . -1 . . . . . . . chr2 85664544 85665596 SH2D6 F chr2_85664691_85664908_11100_1 1 . -1 -1 . -1 . . . . . . . chr2 85785200 85785800 POLR1A S chr2_86333230_86333395_11110_1 1 chr2 85785581 85785582 CM116688 - 1 DM NULL GGCX Vitamin-K-dependent coagulation factor deficiency ATGGGTTGTTGGCCTTTCAGCTAACATTCA[T/G]GGATGCAAACCACTACTGgtatgagtcagg 21435120 chr2 85785200 85785800 POLR1A S chr2_86333230_86333395_11110_1 1 chr2 85785633 85785634 CM064017 - 1 DM NULL GGCX Gamma-glutamyl carboxylase deficiency TGGTATGTGTTTCTCCTGGACAAGACATCA[T/C]GGAACAACCACTCCTATCTGTATGGGTTGT 16720838 chr2 85811030 85813088 VAMP5 F chr2_85812421_85812484_11000_3 1 . -1 -1 . -1 . . . . . . . chr2 85812721 85813054 VAMP5 F chr2_85811030_85811237_10000_2:chr2_85811581_85811800_11110_1:chr2_85812141_85812484_11000_3 3 . -1 -1 . -1 . . . . . . . chr2 85814700 85815022 VAMP5 F chr2_85811030_85811237_10000_2:chr2_85811581_85811800_11110_1:chr2_85812141_85812484_11000_3 3 . -1 -1 . -1 . . . . . . . chr2 86113603 86114063 ST3GAL5 F chr2_86116603_86116657_00000_1 1 . -1 -1 . -1 . . . . . . . chr2 86623400 86623701 CAPG S chr2_85648506_85648785_11000_4 1 . -1 -1 . -1 . . . . . . . chr2 88353539 88354148 KRCC1 F chr2_88355265_88355465_11110_2 1 . -1 -1 . -1 . . . . . . . chr2 96926086 96926875 TMEM127 S chr2_97267602_97267866_11010_3 1 . -1 -1 . -1 . . . . . . . chr2 96932988 96933146 TMEM127 S chr2_97267602_97267866_11010_3 1 . -1 -1 . -1 . . . . . . . chr2 97267216 97268148 TMEM127 S chr2_96926128_96926482_11000_2 1 . -1 -1 . -1 . . . . . . . chr2 99344413 99344676 MGAT4A F chr2_99346205_99346381_11100_1 1 . -1 -1 . -1 . . . . . . . chr2 100104968 100105518 REV1 F chr2_100106583_100106703_11000_1:chr2_100106939_100106980_11000_1 2 . -1 -1 . -1 . . . . . . . chr2 101223304 101223432 ENSG00000234988 S chr2_101397400_101397468_11000_3 1 . -1 -1 . -1 . . . . . . . chr2 101397400 101397914 RPL31 S chr2_101618536_101618796_11111_2 1 . -1 -1 . -1 . . . . . . . chr2 101434828 101437661 NPAS2 S chr2_101730171_101730501_10111_2 1 . -1 -1 . -1 . . . . . . . chr2 101435496 101435968 NPAS2 F chr2_101435594_101435758_11111_4 1 . -1 -1 . -1 . . . . . . . chr2 101435532 101437113 NPAS2 F chr2_101435594_101435758_11111_4 1 . -1 -1 . -1 . . . . . . . chr2 101439223 101439345 NPAS2 S chr2_101730171_101730501_10111_2 1 . -1 -1 . -1 . . . . . . . chr2 101439994 101440086 NPAS2 S chr2_101730171_101730501_10111_2 1 . -1 -1 . -1 . . . . . . . chr2 101440202 101440485 NPAS2 S chr2_101730171_101730501_10111_2 1 . -1 -1 . -1 . . . . . . . chr2 101441200 101441756 RPL31 S chr2_101618536_101618796_11111_2 1 . -1 -1 . -1 . . . . . . . chr2 101441923 101442000 RPL31 S chr2_101618536_101618796_11111_2 1 . -1 -1 . -1 . . . . . . . chr2 101469975 101470305 RPL31 S chr2_101618536_101618796_11111_2 1 . -1 -1 . -1 . . . . . . . chr2 101618359 101619000 RPL31 S chr2_101397400_101397468_11000_3:chr2_101727200_101727400_10000_3:chr2_101730171_101730501_10111_2:chr2_101732840_101732966_10000_1:chr2_101733705_101733975_10010_4:chr2_101824073_101824319_10000_1:chr2_102350207_102350459_10000_1 7 . -1 -1 . -1 . . . . . . . chr2 101727200 101727400 RPL31 S chr2_101618536_101618796_11111_2 1 . -1 -1 . -1 . . . . . . . chr2 101729757 101730663 NPAS2 S chr2_101435594_101435758_11111_4:chr2_101437523_101437661_11010_2:chr2_101439223_101439345_11010_2 3 . -1 -1 . -1 . . . . . . . chr2 101729757 101730663 RPL31 S chr2_101618536_101618796_11111_2 1 . -1 -1 . -1 . . . . . . . chr2 101732636 101733975 RPL31 S chr2_101618536_101618796_11111_2 1 . -1 -1 . -1 . . . . . . . chr2 101740400 101740800 RPL31 S chr2_101618536_101618796_11111_2 1 . -1 -1 . -1 . . . . . . . chr2 101823593 101824496 RPL31 S chr2_101618536_101618796_11111_2 1 . -1 -1 . -1 . . . . . . . chr2 101923239 101923757 RNF149 F chr2_101924271_101924376_10000_1:chr2_101925015_101925628_10000_3 2 . -1 -1 . -1 . . . . . . . chr2 101926137 101926537 RNF149 F chr2_101925015_101925628_10000_3 1 . -1 -1 . -1 . . . . . . . chr2 102347930 102348564 RPL31 S chr2_101618536_101618796_11111_2 1 . -1 -1 . -1 . . . . . . . chr2 102350200 102350546 RPL31 S chr2_101618536_101618796_11111_2 1 . -1 -1 . -1 . . . . . . . chr2 102369600 102369959 RPL31 S chr2_101618536_101618796_11111_2 1 . -1 -1 . -1 . . . . . . . chr2 102387290 102387600 RPL31 S chr2_101618536_101618796_11111_2 1 . -1 -1 . -1 . . . . . . . chr2 106809174 106809856 UXS1 F chr2_106810855_106811091_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 109201604 109202307 LIMS1 F chr2_109204584_109204714_10100_1:chr2_109204584_109204714_10100_1 2 . -1 -1 . -1 . . . . . . . chr2 109206329 109206788 LIMS1 F chr2_109204584_109204714_10100_1:chr2_109204584_109204714_10100_1 2 . -1 -1 . -1 . . . . . . . chr2 112420653 112421347 SLC20A1 S chr2_113402864_113403389_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 112658815 112659000 SLC20A1 S chr2_113402864_113403389_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 112676905 112677200 SLC20A1 S chr2_113402864_113403389_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 112678200 112678368 SLC20A1 S chr2_113402864_113403389_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 113017259 113018400 SLC20A1 S chr2_113402864_113403389_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 113402615 113404205 SLC20A1 S chr2_112658815_112658855_10000_1:chr2_113017259_113017351_10100_1:chr2_113448200_113448553_10000_1 3 . -1 -1 . -1 . . . . . . . chr2 113448200 113448553 SLC20A1 S chr2_113402864_113403389_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 113482087 113482511 SLC20A1 S chr2_113402864_113403389_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 113482639 113483571 SLC20A1 S chr2_113402864_113403389_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 113881199 113882653 IL1RN F chr2_113882210_113882325_10000_1:chr2_113883012_113883127_10010_1:chr2_113884383_113885190_11111_3 3 . -1 -1 . -1 . . . . . . . chr2 113881726 113885638 IL1RN F chr2_113882210_113882325_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 113882661 113883329 IL1RN F chr2_113883012_113883127_10010_1:chr2_113884383_113885190_11111_3 2 . -1 -1 . -1 . . . . . . . chr2 113882795 113885638 IL1RN F chr2_113883012_113883127_10010_1 1 . -1 -1 . -1 . . . . . . . chr2 114644100 114644364 ACTR3 F chr2_114647328_114647722_11111_2 1 . -1 -1 . -1 . . . . . . . chr2 114649026 114649412 ACTR3 F chr2_114647328_114647722_11111_2 1 . -1 -1 . -1 . . . . . . . chr2 118774480 118774964 CCDC93 F chr2_118771723_118772137_11110_1 1 . -1 -1 . -1 . . . . . . . chr2 118847045 118847263 INSIG2 F chr2_118845759_118846045_11111_3 1 . -1 -1 . -1 . . . . . . . chr2 120188945 120191821 TMEM37 F chr2_120191544_120191851_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 120191442 120191798 TMEM37 F chr2_120191544_120191821_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 120192847 120193082 TMEM37 F chr2_120191544_120191851_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 121011894 121012098 RALB F chr2_121010290_121010400_11101_1:chr2_121010850_121011019_11101_1 2 . -1 -1 . -1 . . . . . . . chr2 122287499 122288960 CLASP1 S chr2_122325638_122325869_11010_2 1 chr2 122288485 122288486 CR112397 + 3 DM rs374299350 RNU4ATAC Microcephalic primordial dwarfism: type I TAACCATCCTTTTCTTGGGGTTGCGCTACT[G/A]TCCAATGAGCGCATAGTGAGGGCAGTACTG 21474760 chr2 122287499 122288960 CLASP1 S chr2_122325638_122325869_11010_2 1 chr2 122288505 122288506 CR112399 + 3 DM? NULL RNU4ATAC Microcephalic primordial dwarfism: type I TTGCGCTACTGTCCAATGAGCGCATAGTGA[G/A]GGCAGTACTGCTAACGCCTGAACAACACAC 21474761 chr2 122287499 122288960 CLASP1 S chr2_122325638_122325869_11010_2 1 chr2 122288505 122288506 CR112400 + 3 DM? NULL RNU4ATAC Microcephalic primordial dwarfism: type I TTGCGCTACTGTCCAATGAGCGCATAGTGA[G/C]GGCAGTACTGCTAACGCCTGAACAACACAC 21474761 chr2 122287499 122288960 CLASP1 S chr2_122325638_122325869_11010_2 1 chr2 122288506 122288507 CR112395 + 3 DM rs188343279 RNU4ATAC Microcephalic primordial dwarfism: type I TGCGCTACTGTCCAATGAGCGCATAGTGAG[G/A]GCAGTACTGCTAACGCCTGAACAACACACC 21474760 chr2 122287499 122288960 CLASP1 S chr2_122325638_122325869_11010_2 1 chr2 122288508 122288509 CR112401 + 3 DM? rs180755563 RNU4ATAC Microcephalic primordial dwarfism: type I CGCTACTGTCCAATGAGCGCATAGTGAGGG[C/G]AGTACTGCTAACGCCTGAACAACACACCCG 21474761 chr2 122287499 122288960 CLASP1 S chr2_122325638_122325869_11010_2 1 chr2 122288510 122288511 CR112396 + 3 DM NULL RNU4ATAC Microcephalic primordial dwarfism: type I CTACTGTCCAATGAGCGCATAGTGAGGGCA[G/A]TACTGCTAACGCCTGAACAACACACCCGCA 21474760 chr2 122287499 122288960 CLASP1 S chr2_122325638_122325869_11010_2 1 chr2 122288521 122288522 CR123784 + 3 DM NULL RNU4ATAC Microcephalic primordial dwarfism: type I TGAGCGCATAGTGAGGGCAGTACTGCTAAC[G/C]CCTGAACAACACACCCGCATCAACTAGAGC 22581640 chr2 122287499 122288960 CLASP1 S chr2_122325638_122325869_11010_2 1 chr2 122288566 122288567 CR112398 + 3 DM NULL RNU4ATAC Microcephalic primordial dwarfism: type I CCGCATCAACTAGAGCTTTTGCTTTATTTT[G/A]GTGCAATTTTTGGAAAAATGAAAACCTGTT 21474760 chr2 122287499 122288960 CLASP1 S chr2_122325638_122325869_11010_2 1 chr2 122288579 122288580 CR123785 + 3 DM NULL RNU4ATAC Microcephalic primordial dwarfism: type I AGCTTTTGCTTTATTTTGGTGCAATTTTTG[G/A]AAAAATGAAAACCTGTTTTCATAGACTTAT 22581640 chr2 122325000 122326251 CLASP1 S chr2_122288005_122288162_11100_1:chr2_122288509_122288881_11111_2 2 . -1 -1 . -1 . . . . . . . chr2 128051057 128052063 ERCC3 S chr2_128936337_128936478_11000_2 1 . -1 -1 . -1 . . . . . . . chr2 128144519 128146112 MAP3K2 S chr2_128936337_128936478_11000_2:chr2_129063911_129064087_10000_2 2 . -1 -1 . -1 . . . . . . . chr2 128173465 128174362 PROC F chr2_128173719_128174404_11000_2:chr2_128175931_128176191_11000_2:chr2_128176390_128176496_11000_2 3 . -1 -1 . -1 . . . . . . . chr2 128173713 128176496 PROC F chr2_128173413_128173609_11000_1:chr2_128173719_128174404_11000_2 2 chr2 128175862 128175863 CR952210 + 3 FP rs1799808 PROC Reduced Protein C levels GGTTTTGCCCTCACCTCCCTCCCTGCTGGA[T/C]GGCATCCTTGGTGGGCAGAGGTGGGCTTCG 7749828 chr2 128173713 128176496 PROC F chr2_128173413_128173609_11000_1:chr2_128173719_128174404_11000_2 2 chr2 128175875 128175876 CR952209 + 3 FP rs1799809 PROC Reduced Protein C levels CCTCCCTCCCTGCTGGACGGCATCCTTGGT[A/G]GGCAGAGGTGGGCTTCGGGCAGAACAAGCC 7749828 chr2 128173713 128176496 PROC F chr2_128173413_128173609_11000_1:chr2_128173719_128174404_11000_2 2 chr2 128175983 128175984 CR930881 + 3 DM NULL PROC Protein C deficiency GAGGGAGGCCTCAGTGCTGAGGGCCAAGCA[A/G]ATATTTGTGGTTATGGATTAACTCGAACTC 8292730 chr2 128173713 128176496 PROC F chr2_128173413_128173609_11000_1:chr2_128173719_128174404_11000_2 2 chr2 128175984 128175985 CR001859 + 3 DM NULL PROC Protein C deficiency AGGGAGGCCTCAGTGCTGAGGGCCAAGCAA[A/G]TATTTGTGGTTATGGATTAACTCGAACTCC 10942114 chr2 128173713 128176496 PROC F chr2_128173413_128173609_11000_1:chr2_128173719_128174404_11000_2 2 chr2 128175988 128175989 CR930880 + 3 DM NULL PROC Protein C deficiency AGGCCTCAGTGCTGAGGGCCAAGCAAATAT[T/A]TGTGGTTATGGATTAACTCGAACTCCAGGC 8499565 chr2 128173713 128176496 PROC F chr2_128173413_128173609_11000_1:chr2_128173719_128174404_11000_2 2 chr2 128175994 128175995 CR036052 + 3 DM NULL PROC Protein C deficiency: type I CAGTGCTGAGGGCCAAGCAAATATTTGTGG[T/G]TATGGATTAACTCGAACTCCAGGCTGTCAT 12960605 chr2 128173713 128176496 PROC F chr2_128173413_128173609_11000_1:chr2_128173719_128174404_11000_2 2 chr2 128176001 128176002 CR941558 + 3 DM NULL PROC Protein C deficiency GAGGGCCAAGCAAATATTTGTGGTTATGGA[T/C]TAACTCGAACTCCAGGCTGTCATGGCGGCA 7881411 chr2 128173713 128176496 PROC F chr2_128173413_128173609_11000_1:chr2_128173719_128174404_11000_2 2 chr2 128176005 128176006 CR930879 + 3 DM NULL PROC Protein C deficiency GCCAAGCAAATATTTGTGGTTATGGATTAA[C/T]TCGAACTCCAGGCTGTCATGGCGGCAGGAC 8292730 chr2 128173713 128176496 PROC F chr2_128173413_128173609_11000_1:chr2_128173719_128174404_11000_2 2 chr2 128176036 128176037 CR942016 + 3 DM rs2069936 PROC Protein C deficiency TCGAACTCCAGGCTGTCATGGCGGCAGGAC[G/A]GCGAACTTGCAGTATCTCCACGACCCGCCC LSDB chr2 128173713 128176496 PROC F chr2_128173413_128173609_11000_1:chr2_128173719_128174404_11000_2 2 chr2 128176040 128176041 CR952208 + 3 FP rs1799810 PROC Reduced Protein C levels ACTCCAGGCTGTCATGGCGGCAGGACGGCG[A/T]ACTTGCAGTATCTCCACGACCCGCCCCTGT 7749828 chr2 128173713 128176496 PROC F chr2_128173413_128173609_11000_1:chr2_128173719_128174404_11000_2 2 chr2 128176047 128176048 CR004298 + 3 DM NULL PROC Protein C deficiency GCTGTCATGGCGGCAGGACGGCGAACTTGC[A/C]GTATCTCCACGACCCGCCCCTGTGAGTCCC 10805275 chr2 128173713 128176496 PROC F chr2_128173413_128173609_11000_1:chr2_128173719_128174404_11000_2 2 chr2 128176058 128176059 CR004299 + 3 DM NULL PROC Protein C deficiency GGCAGGACGGCGAACTTGCAGTATCTCCAC[G/A]ACCCGCCCCTGTGAGTCCCCCTCCAGGCAG 10805275 chr2 128175775 128176916 PROC S chr2_128936337_128936478_11000_2:chr2_129063911_129064087_10000_2 2 chr2 128175862 128175863 CR952210 + 3 FP rs1799808 PROC Reduced Protein C levels GGTTTTGCCCTCACCTCCCTCCCTGCTGGA[T/C]GGCATCCTTGGTGGGCAGAGGTGGGCTTCG 7749828 chr2 128175775 128176916 PROC S chr2_128936337_128936478_11000_2:chr2_129063911_129064087_10000_2 2 chr2 128175875 128175876 CR952209 + 3 FP rs1799809 PROC Reduced Protein C levels CCTCCCTCCCTGCTGGACGGCATCCTTGGT[A/G]GGCAGAGGTGGGCTTCGGGCAGAACAAGCC 7749828 chr2 128175775 128176916 PROC S chr2_128936337_128936478_11000_2:chr2_129063911_129064087_10000_2 2 chr2 128175983 128175984 CR930881 + 3 DM NULL PROC Protein C deficiency GAGGGAGGCCTCAGTGCTGAGGGCCAAGCA[A/G]ATATTTGTGGTTATGGATTAACTCGAACTC 8292730 chr2 128175775 128176916 PROC S chr2_128936337_128936478_11000_2:chr2_129063911_129064087_10000_2 2 chr2 128175984 128175985 CR001859 + 3 DM NULL PROC Protein C deficiency AGGGAGGCCTCAGTGCTGAGGGCCAAGCAA[A/G]TATTTGTGGTTATGGATTAACTCGAACTCC 10942114 chr2 128175775 128176916 PROC S chr2_128936337_128936478_11000_2:chr2_129063911_129064087_10000_2 2 chr2 128175988 128175989 CR930880 + 3 DM NULL PROC Protein C deficiency AGGCCTCAGTGCTGAGGGCCAAGCAAATAT[T/A]TGTGGTTATGGATTAACTCGAACTCCAGGC 8499565 chr2 128175775 128176916 PROC S chr2_128936337_128936478_11000_2:chr2_129063911_129064087_10000_2 2 chr2 128175994 128175995 CR036052 + 3 DM NULL PROC Protein C deficiency: type I CAGTGCTGAGGGCCAAGCAAATATTTGTGG[T/G]TATGGATTAACTCGAACTCCAGGCTGTCAT 12960605 chr2 128175775 128176916 PROC S chr2_128936337_128936478_11000_2:chr2_129063911_129064087_10000_2 2 chr2 128176001 128176002 CR941558 + 3 DM NULL PROC Protein C deficiency GAGGGCCAAGCAAATATTTGTGGTTATGGA[T/C]TAACTCGAACTCCAGGCTGTCATGGCGGCA 7881411 chr2 128175775 128176916 PROC S chr2_128936337_128936478_11000_2:chr2_129063911_129064087_10000_2 2 chr2 128176005 128176006 CR930879 + 3 DM NULL PROC Protein C deficiency GCCAAGCAAATATTTGTGGTTATGGATTAA[C/T]TCGAACTCCAGGCTGTCATGGCGGCAGGAC 8292730 chr2 128175775 128176916 PROC S chr2_128936337_128936478_11000_2:chr2_129063911_129064087_10000_2 2 chr2 128176036 128176037 CR942016 + 3 DM rs2069936 PROC Protein C deficiency TCGAACTCCAGGCTGTCATGGCGGCAGGAC[G/A]GCGAACTTGCAGTATCTCCACGACCCGCCC LSDB chr2 128175775 128176916 PROC S chr2_128936337_128936478_11000_2:chr2_129063911_129064087_10000_2 2 chr2 128176040 128176041 CR952208 + 3 FP rs1799810 PROC Reduced Protein C levels ACTCCAGGCTGTCATGGCGGCAGGACGGCG[A/T]ACTTGCAGTATCTCCACGACCCGCCCCTGT 7749828 chr2 128175775 128176916 PROC S chr2_128936337_128936478_11000_2:chr2_129063911_129064087_10000_2 2 chr2 128176047 128176048 CR004298 + 3 DM NULL PROC Protein C deficiency GCTGTCATGGCGGCAGGACGGCGAACTTGC[A/C]GTATCTCCACGACCCGCCCCTGTGAGTCCC 10805275 chr2 128175775 128176916 PROC S chr2_128936337_128936478_11000_2:chr2_129063911_129064087_10000_2 2 chr2 128176058 128176059 CR004299 + 3 DM NULL PROC Protein C deficiency GGCAGGACGGCGAACTTGCAGTATCTCCAC[G/A]ACCCGCCCCTGTGAGTCCCCCTCCAGGCAG 10805275 chr2 128177008 128177494 PROC S chr2_129063911_129064087_10000_2 1 . -1 -1 . -1 . . . . . . . chr2 128178214 128178484 PROC S chr2_129063911_129064087_10000_2 1 . -1 -1 . -1 . . . . . . . chr2 128458651 128460030 SFT2D3 S chr2_129063911_129064087_10000_2 1 . -1 -1 . -1 . . . . . . . chr2 128567867 128569356 WDR33 S chr2_128936337_128936478_11000_2:chr2_129063911_129064087_10000_2 2 . -1 -1 . -1 . . . . . . . chr2 128615030 128616076 POLR2D S chr2_129063911_129064087_10000_2 1 . -1 -1 . -1 . . . . . . . chr2 128642552 128642789 AMMECR1L S chr2_129063911_129064087_10000_2 1 . -1 -1 . -1 . . . . . . . chr2 128643508 128644655 AMMECR1L S chr2_129063911_129064087_10000_2 1 . -1 -1 . -1 . . . . . . . chr2 128926250 128928710 MAP3K2 S chr2_128145695_128145907_11000_1 1 . -1 -1 . -1 . . . . . . . chr2 128926250 128928710 PROC S chr2_128175931_128176191_11000_2:chr2_128176390_128176660_11000_2 2 . -1 -1 . -1 . . . . . . . chr2 128935400 128937200 MAP3K2 S chr2_128145695_128145907_11000_1 1 . -1 -1 . -1 . . . . . . . chr2 128935400 128937200 PROC S chr2_128175931_128176191_11000_2:chr2_128176390_128176660_11000_2 2 . -1 -1 . -1 . . . . . . . chr2 129062600 129064087 AMMECR1L S chr2_128642552_128642562_10000_2:chr2_128644404_128644519_10000_1 2 . -1 -1 . -1 . . . . . . . chr2 129062600 129064087 MAP3K2 S chr2_128145695_128145907_11000_1 1 . -1 -1 . -1 . . . . . . . chr2 129062600 129064087 POLR2D S chr2_128615030_128615076_10000_1:chr2_128615952_128616076_10000_1 2 . -1 -1 . -1 . . . . . . . chr2 129062600 129064087 PROC S chr2_128175931_128176191_11000_2:chr2_128176390_128176660_11000_2:chr2_128177008_128177247_11000_2 3 . -1 -1 . -1 . . . . . . . chr2 129064257 129064559 AMMECR1L S chr2_128642552_128642562_10000_2 1 . -1 -1 . -1 . . . . . . . chr2 129064851 129064999 AMMECR1L S chr2_128642552_128642562_10000_2 1 . -1 -1 . -1 . . . . . . . chr2 129074400 129074492 HS6ST1 S chr2_129063911_129064087_10000_2 1 . -1 -1 . -1 . . . . . . . chr2 129074716 129075824 HS6ST1 S chr2_129063911_129064087_10000_2 1 . -1 -1 . -1 . . . . . . . chr2 129075922 129076070 HS6ST1 S chr2_129063911_129064087_10000_2 1 . -1 -1 . -1 . . . . . . . chr2 131861919 131864134 PLEKHB2 F chr2_131863906_131864204_11000_1 1 . -1 -1 . -1 . . . . . . . chr2 131863489 131864378 PLEKHB2 F chr2_131862039_131862353_10000_3:chr2_131862780_131862903_11000_1:chr2_131863906_131864134_11000_1 3 . -1 -1 . -1 . . . . . . . chr2 134322407 134322631 NCKAP5 F chr2_134324619_134324797_11000_3:chr2_134325974_134326137_11101_1 2 . -1 -1 . -1 . . . . . . . chr2 136870789 136874313 CXCR4 F chr2_136870945_136871105_11111_1 1 chr2 136872471 136872472 CM030832 - 1 DM rs104893625 CXCR4 WHIM syndrome AAGCGAGGTGGACATTCATCTGTTTCCACT[G/T]AGTCTGAGTCTTCAAGTTTTCACTCCAGCT 12692554 chr2 136870789 136874313 CXCR4 F chr2_136870945_136871105_11111_1 1 chr2 136872471 136872472 CM125860 - 1 DM NULL CXCR4 WHIM syndrome AAGCGAGGTGGACATTCATCTGTTTCCACT[G/A]AGTCTGAGTCTTCAAGTTTTCACTCCAGCT 22596258 chr2 136870789 136874313 CXCR4 F chr2_136870945_136871105_11111_1 1 chr2 136872477 136872478 CD0911366 - 5 DM NULL CXCR4 WHIM syndrome AAAGGAAAGCGAGGTGGACATTCATCTGTT[T/-]CCACTGAGTCTGAGTCTTCAAGTTTTCACT 19321197 chr2 136870789 136874313 CXCR4 F chr2_136870945_136871105_11111_1 1 chr2 136872481 136872482 CD031036 - 5 DM NULL CXCR4 WHIM syndrome TCTCCAAAGGAAAGCGAGGTGGACATTCAT[CT/-]GTTTCCACTGAGTCTGAGTCTTCAAGTTTT 12692554 chr2 136870789 136874313 CXCR4 F chr2_136870945_136871105_11111_1 1 chr2 136872485 136872486 CM066016 - 1 DM rs104893626 CXCR4 WHIM syndrome TCCTCTCCAAAGGAAAGCGAGGTGGACATT[C/G]ATCTGTTTCCACTGAGTCTGAGTCTTCAAG 17087743 chr2 136870789 136874313 CXCR4 F chr2_136870945_136871105_11111_1 1 chr2 136872492 136872493 CM045454 - 1 DM NULL CXCR4 WHIM syndrome CTCAAGATCCTCTCCAAAGGAAAGCGAGGT[G/T]GACATTCATCTGTTTCCACTGAGTCTGAGT 15026312 chr2 136870789 136874313 CXCR4 F chr2_136870945_136871105_11111_1 1 chr2 136872498 136872499 CM030831 - 1 DM rs104893624 CXCR4 WHIM syndrome TCCAGCCTCAAGATCCTCTCCAAAGGAAAG[C/T]GAGGTGGACATTCATCTGTTTCCACTGAGT 12692554 chr2 136870789 136874313 CXCR4 F chr2_136870945_136871105_11111_1 1 chr2 136872501 136872502 BM1324681 - 1 DM NULL CXCR4 WHIM syndrome GGGTCCAGCCTCAAGATCCTCTCCAAAGGA[A/T]AGCGAGGTGGACATTCATCTGTTTCCACTG 24139496 chr2 136870789 136874313 CXCR4 F chr2_136870945_136871105_11111_1 1 chr2 136872528 136872529 CI128719 - 6 DM NULL CXCR4 WHIM syndrome CAGCACGCACTCACCTCTGTGAGCAGAGGG[-/G]TCCAGCCTCAAGATCCTCTCCAAAGGAAAG 23009155 chr2 136870879 136871100 CXCR4 F chr2_136870945_136871105_11111_1 1 . -1 -1 . -1 . . . . . . . chr2 138717867 138718049 HNMT F chr2_138721271_138721394_11010_1:chr2_138721642_138721945_11010_4 2 . -1 -1 . -1 . . . . . . . chr2 142886868 142887183 LRP1B F chr2_142889065_142889270_10000_2 1 . -1 -1 . -1 . . . . . . . chr2 143630782 143631707 KYNU F chr2_143631989_143632313_11000_3:chr2_143634960_143635190_11010_4 2 . -1 -1 . -1 . . . . . . . chr2 143631044 143635695 KYNU F chr2_143631989_143632007_11000_3 1 . -1 -1 . -1 . . . . . . . chr2 149632291 149634812 KIF5C F chr2_149634364_149634604_11000_1 1 . -1 -1 . -1 . . . . . . . chr2 149634441 149634782 KIF5C F chr2_149634364_149634604_11000_1 1 . -1 -1 . -1 . . . . . . . chr2 152144821 152144962 NMI F chr2_152146359_152146783_10101_2 1 . -1 -1 . -1 . . . . . . . chr2 152266171 152267333 RIF1 S chr2_152852309_152852476_10100_1 1 . -1 -1 . -1 . . . . . . . chr2 152851648 152853357 RIF1 S chr2_152266171_152266549_11010_2 1 . -1 -1 . -1 . . . . . . . chr2 152851648 152853357 STAM2 S chr2_153032464_153032602_11100_1 1 . -1 -1 . -1 . . . . . . . chr2 153031666 153033055 STAM2 S chr2_152852309_152852476_10100_1 1 . -1 -1 . -1 . . . . . . . chr2 153261740 153262287 STAM2 S chr2_153032464_153032602_11100_1 1 . -1 -1 . -1 . . . . . . . chr2 155558133 155558529 KCNJ3 F chr2_155556116_155556353_11000_2 1 . -1 -1 . -1 . . . . . . . chr2 157188786 157191130 NR4A2 F chr2_157190121_157190327_10001_1 1 chr2 157189110 157189111 CR030127 - 3 FP NULL NR4A2 Reduced expression CGCCTGTCCCTGCTCCCTCCCTCCGTGAGG[T/G]GTCCGGGTTCCCTTCGCCCAGCTCTCCCAC 12496759 chr2 157188786 157191130 NR4A2 F chr2_157190121_157190327_10001_1 1 chr2 157189174 157189175 CR092630 - 3 DM NULL NR4A2 Parkinson disease CCAGGGCCAGTCCGCCCGGCGGCTCGCGCA[C/T]GGCTCCGCGGTCCCTTTTGCCTGTCCAGCC 19429166 chr2 157190328 157191531 NR4A2 F chr2_157189163_157189267_11101_1:chr2_157189625_157189746_11000_1:chr2_157190121_157190327_10001_1 3 . -1 -1 . -1 . . . . . . . chr2 157191997 157192231 NR4A2 F chr2_157189163_157189267_11101_1:chr2_157189625_157189746_11000_1:chr2_157190121_157190327_10001_1 3 . -1 -1 . -1 . . . . . . . chr2 159041191 159041819 PKP4 S chr2_159314618_159315058_11101_4 1 . -1 -1 . -1 . . . . . . . chr2 161348201 161348679 RBMS1 F chr2_161348888_161349309_11101_3:chr2_161350168_161350358_10101_1 2 . -1 -1 . -1 . . . . . . . chr2 161348240 161350818 RBMS1 F chr2_161347901_161347989_10000_1:chr2_161348888_161348979_11101_3 2 . -1 -1 . -1 . . . . . . . chr2 169928584 169930533 DHRS9 F chr2_169930784_169930789_10000_4 1 . -1 -1 . -1 . . . . . . . chr2 169930175 169930489 DHRS9 F chr2_169928689_169928945_10000_4 1 . -1 -1 . -1 . . . . . . . chr2 170219794 170220267 LRP2 F chr2_170219027_170219272_11000_1 1 chr2 170219881 170219882 CR103125 - 3 DFP rs3755166 LRP2 Alzheimer disease: increased risk: association with CTGTAGATGTGGTGCTGAATAATTGCTAAA[C/T]AAGGATCCAACCTCCCCAACAAAGATCCAC 20052685 chr2 171672456 171674600 SP5 S chr2_171571254_171571445_10000_2:chr2_171571770_171571880_10000_1 2 chr2 171673475 171673476 CR078170 + 3 DP rs3749034 GAD1 Schizophrenia: familial: association with AGCAGCTGGAGGTGACGCCGGGCAGATTAC[A/G]CCTGTCAGGGCCGAGCCGAGCGGATCGCTG 17767149 chr2 171943200 171943537 SP5 S chr2_171571254_171571445_10000_2:chr2_171571770_171571880_10000_1 2 . -1 -1 . -1 . . . . . . . chr2 173940064 173942232 ZAK F chr2_173941951_173942070_10101_1:chr2_173942507_173942608_11101_4 2 . -1 -1 . -1 . . . . . . . chr2 173941754 173942308 ZAK F chr2_173941951_173942070_10101_1 1 . -1 -1 . -1 . . . . . . . chr2 176866065 176867518 KIAA1715 F chr2_176866101_176866268_11000_2 1 . -1 -1 . -1 . . . . . . . chr2 176866139 176866392 KIAA1715 F chr2_176866101_176866268_11000_2:chr2_176866977_176867146_11100_1 2 . -1 -1 . -1 . . . . . . . chr2 176969861 176970296 HOXD11 F chr2_176971868_176972125_10100_2 1 . -1 -1 . -1 . . . . . . . chr2 178032827 178033234 ENSG00000236501 S chr2_178029389_178029557_11101_1 1 . -1 -1 . -1 . . . . . . . chr2 178032827 178033234 NFE2L2 S chr2_178128070_178128541_10101_3:chr2_178129477_178130109_10101_3 2 . -1 -1 . -1 . . . . . . . chr2 178032827 178033234 PDE11A S chr2_178977002_178977247_11000_2 1 . -1 -1 . -1 . . . . . . . chr2 178116800 178117200 AGPS S chr2_178257357_178257571_11101_1 1 . -1 -1 . -1 . . . . . . . chr2 178116800 178117200 NFE2L2 S chr2_178128070_178128541_10101_3:chr2_178129477_178130109_10101_3 2 . -1 -1 . -1 . . . . . . . chr2 178116800 178117200 PDE11A S chr2_178977002_178977247_11000_2 1 . -1 -1 . -1 . . . . . . . chr2 178119200 178120200 ENSG00000236501 S chr2_178029389_178029557_11101_1 1 . -1 -1 . -1 . . . . . . . chr2 178119200 178120200 NFE2L2 S chr2_178128070_178128541_10101_3:chr2_178129477_178130109_10101_3 2 . -1 -1 . -1 . . . . . . . chr2 178119200 178120200 PDE11A S chr2_178977002_178977247_11000_2 1 . -1 -1 . -1 . . . . . . . chr2 178127939 178130315 NFE2L2 S chr2_178116825_178117139_11001_3 1 chr2 178130037 178130038 CR073551 - 3 DFP rs6721961 NFE2L2 Acute lung injury: association with TTCAGGGTGACTGCGAACACGAGCTGCCGG[C/A]GCTGTCCACATCTCCCCTAGGCAGGGCCCA 17384144 chr2 178127939 178130315 NFE2L2 S chr2_178116825_178117139_11001_3 1 chr2 178130073 178130074 CR1210189 - 3 DFP rs35652124 NFE2L2 Oligoasthenozoospermia: increased risk GGAGAATGGAGACACGTGGGAGTTCAGAGG[G/A]GGGCGTTCAGGGTGACTGCGAACACGAGCT 22648520 chr2 178196813 178197142 NFE2L2 S chr2_178128070_178128541_10101_3:chr2_178129477_178130109_10101_3 2 . -1 -1 . -1 . . . . . . . chr2 178196813 178197142 PDE11A S chr2_178977002_178977247_11000_2 1 . -1 -1 . -1 . . . . . . . chr2 178257113 178258031 AGPS S chr2_178116825_178117139_11001_3 1 . -1 -1 . -1 . . . . . . . chr2 178977002 178977902 PDE11A S chr2_178116825_178117139_11001_3 1 . -1 -1 . -1 . . . . . . . chr2 190043432 190043827 COL5A2 F chr2_190044372_190044506_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 191512036 191512188 NAB1 F chr2_191512552_191513154_11000_2:chr2_191513579_191513715_10000_1 2 . -1 -1 . -1 . . . . . . . chr2 191880126 191880291 STAT1 F chr2_191878475_191878709_10100_3:chr2_191878949_191879317_11100_3 2 . -1 -1 . -1 . . . . . . . chr2 192540623 192541368 OBFC2A F chr2_192542713_192542919_11000_3 1 . -1 -1 . -1 . . . . . . . chr2 192544982 192545232 OBFC2A F chr2_192542713_192542919_11000_3 1 . -1 -1 . -1 . . . . . . . chr2 192623228 192623793 MYO1B S chr2_192109960_192110187_11101_1 1 . -1 -1 . -1 . . . . . . . chr2 196523919 196524096 SLC39A10 F chr2_196521585_196522130_11100_3 1 . -1 -1 . -1 . . . . . . . chr2 201167680 201171104 SPATS2L F chr2_201168188_201168304_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 201167680 201171485 SPATS2L F chr2_201168188_201168304_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 201167757 201168004 SPATS2L F chr2_201168188_201168367_10000_1:chr2_201168188_201168367_10000_1:chr2_201170620_201171104_00000_2:chr2_201170620_201171142_00000_2 4 . -1 -1 . -1 . . . . . . . chr2 201231957 201232246 NDUFB3 S chr2_201934101_201934400_10000_2 1 . -1 -1 . -1 . . . . . . . chr2 201675846 201677568 BZW1 S chr2_201270802_201270971_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 201829288 201829721 ORC2 F chr2_201827923_201828027_11100_1:chr2_201828410_201828617_11101_1 2 . -1 -1 . -1 . . . . . . . chr2 201934100 201934400 NDUFB3 S chr2_201231957_201232246_11000_4 1 . -1 -1 . -1 . . . . . . . chr2 201978583 201978718 CFLAR F chr2_201980639_201981097_10000_3:chr2_201981371_201981377_10000_4 2 . -1 -1 . -1 . . . . . . . chr2 203131534 203131826 NOP58 F chr2_203130947_203131105_10100_1 1 . -1 -1 . -1 . . . . . . . chr2 203503987 203504299 FAM117B F chr2_203500777_203500987_10101_1 1 . -1 -1 . -1 . . . . . . . chr2 204575159 204575221 CD28 F chr2_204574245_204574418_11000_1 1 . -1 -1 . -1 . . . . . . . chr2 208027980 208028625 KLF7 F chr2_208028337_208028533_10001_1:chr2_208030375_208030566_11100_1:chr2_208030825_208031114_11101_2 3 . -1 -1 . -1 . . . . . . . chr2 208028102 208031114 KLF7 F chr2_208028337_208028533_10001_1 1 . -1 -1 . -1 . . . . . . . chr2 208028732 208029438 KLF7 F chr2_208030375_208030566_11100_1:chr2_208030825_208031114_11101_2 2 . -1 -1 . -1 . . . . . . . chr2 208028885 208031114 KLF7 F chr2_208028432_208028533_10001_1 1 . -1 -1 . -1 . . . . . . . chr2 208395422 208395980 CREB1 F chr2_208394501_208394633_11100_1 1 . -1 -1 . -1 . . . . . . . chr2 211420822 211423863 CPS1 F chr2_211423271_211423713_11101_1:chr2_211423930_211424054_11101_2 2 chr2 211421582 211421583 CD114399 + 5 DM NULL CPS1 Carbamoyl phosphate synthetase I deficiency CAAGACCTGGCATCAGGCTCCTTTCTGTCA[A/-]GGTAATACCCATATTGATTGTTTCTGATAA 21120950 chr2 211420822 211424380 CPS1 F chr2_211423693_211423713_11101_1:chr2_211423930_211424145_11101_2:chr2_211424376_211424571_11001_2 3 chr2 211421582 211421583 CD114399 + 5 DM NULL CPS1 Carbamoyl phosphate synthetase I deficiency CAAGACCTGGCATCAGGCTCCTTTCTGTCA[A/-]GGTAATACCCATATTGATTGTTTCTGATAA 21120950 chr2 211423571 211423754 CPS1 F chr2_211421065_211421662_11101_3:chr2_211423130_211423713_11101_1 2 . -1 -1 . -1 . . . . . . . chr2 211423993 211424366 CPS1 F chr2_211421065_211421662_11101_3:chr2_211423130_211423713_11101_1:chr2_211423930_211424145_11101_2:chr2_211424376_211424380_11001_2 4 . -1 -1 . -1 . . . . . . . chr2 216281400 216282600 FN1 S chr2_216301000_216301319_11101_1 1 . -1 -1 . -1 . . . . . . . chr2 216284499 216285800 FN1 S chr2_216301000_216301319_11101_1 1 . -1 -1 . -1 . . . . . . . chr2 216299826 216301595 FN1 S chr2_216282092_216282545_11101_2:chr2_216285210_216285412_10000_2 2 . -1 -1 . -1 . . . . . . . chr2 216876838 216878846 MREG F chr2_216877014_216877342_11101_1 1 . -1 -1 . -1 . . . . . . . chr2 216876845 216877231 MREG F chr2_216877014_216877342_11101_1 1 . -1 -1 . -1 . . . . . . . chr2 216979546 216979600 RPL37A S chr2_217363429_217363637_11000_1 1 . -1 -1 . -1 . . . . . . . chr2 217362669 217364462 RPL37A S chr2_216979546_216979600_11000_2 1 . -1 -1 . -1 . . . . . . . chr2 218763240 218763337 TNS1 S chr2_219149000_219149257_11100_1:chr2_219150330_219150600_11000_2:chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 4 . -1 -1 . -1 . . . . . . . chr2 218764290 218764552 TNS1 S chr2_219129649_219129800_11101_2:chr2_219149000_219149257_11100_1:chr2_219150330_219150600_11000_2:chr2_219309416_219309786_11000_2:chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2:chr2_219598453_219598711_10000_3:chr2_219610010_219610210_10000_1 8 . -1 -1 . -1 . . . . . . . chr2 218764921 218765056 TNS1 S chr2_219149000_219149257_11100_1:chr2_219150330_219150600_11000_2:chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2:chr2_219598453_219598711_10000_3 5 . -1 -1 . -1 . . . . . . . chr2 218766654 218768310 TNS1 S chr2_219129649_219129800_11101_2:chr2_219149000_219149257_11100_1:chr2_219150330_219150600_11000_2:chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2:chr2_219598453_219598711_10000_3 6 . -1 -1 . -1 . . . . . . . chr2 218804414 218804685 TNS1 F chr2_218807646_218807930_10000_2:chr2_218808780_218809051_10100_1 2 . -1 -1 . -1 . . . . . . . chr2 218806995 218809296 TNS1 F chr2_218807646_218807684_10000_2 1 . -1 -1 . -1 . . . . . . . chr2 218807007 218807384 TNS1 F chr2_218807646_218807930_10000_2:chr2_218808780_218809051_10100_1 2 . -1 -1 . -1 . . . . . . . chr2 218808373 218809004 TNS1 S chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 2 . -1 -1 . -1 . . . . . . . chr2 219129113 219129800 SLC11A1 S chr2_219264498_219264661_10000_3:chr2_219265757_219266025_10000_2 2 . -1 -1 . -1 . . . . . . . chr2 219129113 219129800 TMBIM1 S chr2_219151780_219152031_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 219129113 219129800 TNS1 S chr2_218767214_218767822_10100_3 1 . -1 -1 . -1 . . . . . . . chr2 219129800 219130321 AAMP S chr2_219149000_219149257_11100_1:chr2_219150330_219150600_11000_2:chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 4 . -1 -1 . -1 . . . . . . . chr2 219149000 219149666 AAMP S chr2_219129800_219129845_11101_2 1 . -1 -1 . -1 . . . . . . . chr2 219149000 219149666 CNPPD1 S chr2_220042478_220043001_11101_2 1 . -1 -1 . -1 . . . . . . . chr2 219149000 219149666 SLC11A1 S chr2_219264498_219264661_10000_3:chr2_219265757_219266025_10000_2 2 . -1 -1 . -1 . . . . . . . chr2 219149000 219149666 TMBIM1 S chr2_219151780_219152031_10000_1:chr2_219156502_219156618_10000_1:chr2_219157128_219157307_10100_1 3 . -1 -1 . -1 . . . . . . . chr2 219149000 219149666 TNS1 S chr2_218763240_218763337_10100_2:chr2_218764921_218765056_10000_1:chr2_218767214_218767822_10100_3 3 . -1 -1 . -1 . . . . . . . chr2 219150143 219150600 AAMP S chr2_219129800_219129845_11101_2 1 . -1 -1 . -1 . . . . . . . chr2 219150143 219150600 CNPPD1 S chr2_220042478_220043001_11101_2 1 . -1 -1 . -1 . . . . . . . chr2 219150143 219150600 SLC11A1 S chr2_219264498_219264661_10000_3:chr2_219265757_219266025_10000_2 2 . -1 -1 . -1 . . . . . . . chr2 219150143 219150600 TMBIM1 S chr2_219151780_219152031_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 219150143 219150600 TNS1 S chr2_218763240_218763337_10100_2:chr2_218764921_218765056_10000_1:chr2_218767214_218767822_10100_3 3 . -1 -1 . -1 . . . . . . . chr2 219151234 219152240 TMBIM1 S chr2_219129649_219129800_11101_2:chr2_219149000_219149257_11100_1:chr2_219150330_219150600_11000_2:chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2:chr2_219598453_219598711_10000_3:chr2_219610010_219610210_10000_1 7 . -1 -1 . -1 . . . . . . . chr2 219152432 219152670 TMBIM1 S chr2_219149000_219149257_11100_1 1 . -1 -1 . -1 . . . . . . . chr2 219156426 219157541 TMBIM1 S chr2_219149000_219149257_11100_1:chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 3 . -1 -1 . -1 . . . . . . . chr2 219187401 219189097 PNKD F chr2_219188732_219189257_10101_2 1 . -1 -1 . -1 . . . . . . . chr2 219188663 219189129 PNKD F chr2_219187506_219187982_10101_3:chr2_219188732_219189097_10101_2 2 . -1 -1 . -1 . . . . . . . chr2 219260610 219262290 SLC11A1 S chr2_219309416_219309786_11000_2:chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2:chr2_219598453_219598711_10000_3 4 . -1 -1 . -1 . . . . . . . chr2 219262382 219266275 SLC11A1 S chr2_219129649_219129800_11101_2:chr2_219149000_219149257_11100_1:chr2_219150330_219150600_11000_2:chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2:chr2_219598453_219598711_10000_3:chr2_219610010_219610210_10000_1 7 . -1 -1 . -1 . . . . . . . chr2 219309252 219310200 SLC11A1 S chr2_219260804_219261186_10000_1:chr2_219261861_219261977_10000_1 2 . -1 -1 . -1 . . . . . . . chr2 219434664 219435146 USP37 F chr2_219433051_219433590_11101_3:chr2_219433838_219434123_10101_1 2 . -1 -1 . -1 . . . . . . . chr2 219523416 219524853 BCS1L S chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 2 . -1 -1 . -1 . . . . . . . chr2 219575340 219576216 TTLL4 S chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 2 . -1 -1 . -1 . . . . . . . chr2 219596020 219597620 AAMP S chr2_219129800_219129845_11101_2 1 . -1 -1 . -1 . . . . . . . chr2 219596020 219597620 ABCB6 S chr2_220071232_220071919_11101_2:chr2_220073150_220073349_11000_1 2 . -1 -1 . -1 . . . . . . . chr2 219596020 219597620 ANKZF1 S chr2_220093910_220094075_11100_1:chr2_220094449_220094675_11101_3 2 . -1 -1 . -1 . . . . . . . chr2 219596020 219597620 CNPPD1 S chr2_220042478_220043001_11101_2 1 . -1 -1 . -1 . . . . . . . chr2 219596020 219597620 CYP27A1 S chr2_219646662_219647405_11101_1:chr2_219671100_219671347_10000_2 2 . -1 -1 . -1 . . . . . . . chr2 219596020 219597620 SLC11A1 S chr2_219260804_219261186_10000_1:chr2_219261861_219261977_10000_1:chr2_219264498_219264661_10000_3:chr2_219265757_219266025_10000_2 4 . -1 -1 . -1 . . . . . . . chr2 219596020 219597620 STK11IP S chr2_220462394_220462578_11101_1:chr2_220462820_220463155_11100_1 2 . -1 -1 . -1 . . . . . . . chr2 219596020 219597620 TMBIM1 S chr2_219151780_219152031_10000_1:chr2_219156502_219156618_10000_1:chr2_219157128_219157307_10100_1 3 . -1 -1 . -1 . . . . . . . chr2 219596020 219597620 TNS1 S chr2_218763240_218763337_10100_2:chr2_218764921_218765056_10000_1:chr2_218767214_218767822_10100_3:chr2_218808780_218809004_10100_1 4 . -1 -1 . -1 . . . . . . . chr2 219596020 219597620 TTLL4 S chr2_219575462_219575619_10101_1 1 . -1 -1 . -1 . . . . . . . chr2 219598272 219598777 SLC11A1 S chr2_219260804_219261186_10000_1:chr2_219261861_219261977_10000_1:chr2_219264498_219264661_10000_3:chr2_219265757_219266025_10000_2 4 . -1 -1 . -1 . . . . . . . chr2 219598272 219598777 TMBIM1 S chr2_219151780_219152031_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 219598272 219598777 TNS1 S chr2_218764921_218765056_10000_1:chr2_218767214_218767822_10100_3 2 . -1 -1 . -1 . . . . . . . chr2 219598904 219599200 TMBIM1 S chr2_219151780_219152031_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 219598904 219599200 TNS1 S chr2_218767214_218767822_10100_3 1 . -1 -1 . -1 . . . . . . . chr2 219609835 219611780 ABCB6 S chr2_220071232_220071919_11101_2:chr2_220073150_220073349_11000_1 2 . -1 -1 . -1 . . . . . . . chr2 219609835 219611780 SLC11A1 S chr2_219264498_219264661_10000_3:chr2_219265757_219266025_10000_2 2 . -1 -1 . -1 . . . . . . . chr2 219609835 219611780 STK11IP S chr2_220462394_220462578_11101_1:chr2_220462820_220463155_11100_1 2 . -1 -1 . -1 . . . . . . . chr2 219609835 219611780 TMBIM1 S chr2_219151780_219152031_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 219613466 219614179 SLC11A1 S chr2_219260804_219261186_10000_1:chr2_219261861_219261977_10000_1:chr2_219264498_219264661_10000_3:chr2_219265757_219266025_10000_2 4 . -1 -1 . -1 . . . . . . . chr2 219613466 219614179 STK11IP S chr2_220462394_220462578_11101_1:chr2_220462820_220463155_11100_1 2 . -1 -1 . -1 . . . . . . . chr2 219613466 219614179 TMBIM1 S chr2_219151780_219152031_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 219613466 219614179 TNS1 S chr2_218764921_218765056_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 219646280 219647511 CYP27A1 S chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 2 chr2 219646907 219646908 CM1311613 + 1 DM NULL CYP27A1 Cerebrotendinous xanthomatosis ccaaaggtgcaggcgcgcgagcacaacccA[T/C]GGCTGCGCTGGGCTGCGCGAGGCTGAGGTG 24174808 chr2 219646280 219647511 CYP27A1 S chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 2 chr2 219646910 219646911 CI952428 + 6 DM NULL CYP27A1 Cerebrotendinous xanthomatosis AGGTGCAGGCGCGCGAGCACAACCCATGGC[-/C]TGCGCTGGGCTGCGCGAGGCTGAGGTGGGC 7860076 chr2 219646280 219647511 CYP27A1 S chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 2 chr2 219646916 219646925 CD016076 + 5 DM NULL CYP27A1 Cerebrotendinous xanthomatosis CAGGCGCGCGAGCACAACCCATGGCTGCGC[TGGGCTGCGC/-]GAGGCTGAGGTGGGCGCTGCGAGGGGCCGG 11181744 chr2 219646280 219647511 CYP27A1 S chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 2 chr2 219646925 219646926 CI065820 + 6 DM NULL CYP27A1 Cerebrotendinous xanthomatosis AGCACAACCCATGGCTGCGCTGGGCTGCGC[-/TGGGCTGCGC]GAGGCTGAGGTGGGCGCTGCGAGGGGCCGG 17030721 chr2 219646280 219647511 CYP27A1 S chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 2 chr2 219646946 219646947 CM1312294 + 1 DM? NULL CYP27A1 Coronary artery disease TGGGCTGCGCGAGGCTGAGGTGGGCGCTGC[G/A]AGGGGCCGGCCGTGGCCTCTGCCCCCACGG 24080357 chr2 219646280 219647511 CYP27A1 S chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 2 chr2 219646978 219646979 CD119150 + 5 DM NULL CYP27A1 Cerebrotendinous xanthomatosis GGGGCCGGCCGTGGCCTCTGCCCCCACGGG[G/-]CCAGAGCCAAGGCCGCGATCCCTGCCGCCC 22018287 chr2 219646280 219647511 CYP27A1 S chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 2 chr2 219646982 219646983 CM1312295 + 1 DM? rs192494481 CYP27A1 Coronary artery disease CCGGCCGTGGCCTCTGCCCCCACGGGGCCA[G/A]AGCCAAGGCCGCGATCCCTGCCGCCCTCCC 24080357 chr2 219646280 219647511 CYP27A1 S chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 2 chr2 219646984 219646985 CM1312296 + 1 DM? NULL CYP27A1 Coronary artery disease GGCCGTGGCCTCTGCCCCCACGGGGCCAGA[G/A]CCAAGGCCGCGATCCCTGCCGCCCTCCCCT 24080357 chr2 219648056 219648806 CYP27A1 F chr2_219646027_219646155_11100_1:chr2_219646662_219647405_11101_1 2 . -1 -1 . -1 . . . . . . . chr2 219671028 219671400 CYP27A1 S chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 2 . -1 -1 . -1 . . . . . . . chr2 219922996 219923643 TMBIM1 S chr2_219156502_219156618_10000_1:chr2_219157128_219157307_10100_1 2 . -1 -1 . -1 . . . . . . . chr2 220024880 220025792 NHEJ1 S chr2_219309416_219309786_11000_2:chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 3 . -1 -1 . -1 . . . . . . . chr2 220042314 220043715 CNPPD1 S chr2_219149000_219149257_11100_1:chr2_219150330_219150600_11000_2:chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 4 . -1 -1 . -1 . . . . . . . chr2 220070956 220074200 ABCB6 S chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2:chr2_219610010_219610210_10000_1 3 . -1 -1 . -1 . . . . . . . chr2 220082360 220084316 ABCB6 S chr2_219149000_219149257_11100_1:chr2_219150330_219150600_11000_2:chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 4 chr2 220082505 220082506 CM128903 - 1 FP rs149202834 ABCB6 Lan(-) blood group variant ttctagGTTCAGTTTAGCCTGTGGGTGCTG[C/T]GGTATGTGGTCTCTGGAGGGCTGTTTGTCC 22958180 chr2 220082360 220084316 ABCB6 S chr2_219149000_219149257_11100_1:chr2_219150330_219150600_11000_2:chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 4 chr2 220082888 220082889 CM137790 - 1 DM NULL ABCB6 Dyschromatosis universalis hereditaria GCTGAGAACTTGGCCCTGGTGTCTTGGAAC[A/G]GCCCACAGTGGTGGTGGGCAAGGGCAGACT 23519333 chr2 220082360 220084316 ABCB6 S chr2_219149000_219149257_11100_1:chr2_219150330_219150600_11000_2:chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 4 chr2 220082937 220082938 CD1312293 - 5 DM NULL ABCB6 Dyschromatosis universalis hereditaria GTTCAGGCACAGCCCTGGTCTCCTGCTCCT[C/-]TGGACTGTGGCGTTTGCAGCTGAGAACTTG 24224009 chr2 220082360 220084316 ABCB6 S chr2_219149000_219149257_11100_1:chr2_219150330_219150600_11000_2:chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 4 chr2 220083020 220083021 CD141368 - 5 FP NULL ABCB6 Lan(-) blood group variant CTGGCCGGCGCCTGTGGCCTGTGGCTGCTT[G/-]TCGTGGAGCGGAGCCAGGCACGGCAGCGTC 23763549 chr2 220082360 220084316 ABCB6 S chr2_219149000_219149257_11100_1:chr2_219150330_219150600_11000_2:chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 4 chr2 220083199 220083200 CI121060 - 6 FP NULL ABCB6 Lan(-) blood group variant CCGCTGGTGCTGATTCGCTGTCTTGGGGGG[-/G]CCGGCCCTCGCATCTCTCCCTACGTGCTGC 22246506 chr2 220082360 220084316 ABCB6 S chr2_219149000_219149257_11100_1:chr2_219150330_219150600_11000_2:chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 4 chr2 220083227 220083228 CM120215 - 1 DM NULL ABCB6 Ocular coloboma GCTCTTCCCTGCAGACGCCGGGAGCGGCCC[G/A]CTGGTGCTGATTCGCTGTCTTGGGGGGCCG 22226084 chr2 220082360 220084316 ABCB6 S chr2_219149000_219149257_11100_1:chr2_219150330_219150600_11000_2:chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 4 chr2 220083309 220083311 CD128906 - 5 FP NULL ABCB6 Lan(-) blood group variant ATGCAGGATGGCCTGAGTCCCTGCTTCTTC[TTC/-]ACGCTCGTGCCCTCGACGCGGATGGCTCTG 22958180 chr2 220093583 220095222 ANKZF1 S chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 2 . -1 -1 . -1 . . . . . . . chr2 220113094 220113400 TMBIM1 S chr2_219151780_219152031_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 220435007 220437108 INHA S chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 2 chr2 220434989 220435008 CD100055 - 5 DM NULL OBSL1 3-M syndrome TGCTTTACTGCCAGGCCAAGGATCGTGGGC[TCTACGTCTGCGCCGCGCGC/-]AACTCGGCGGGCCAGACGCTCAGTGCCGTG 19877176 chr2 220435007 220437108 INHA S chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 2 chr2 220435027 220435028 CM1210393 - 1 DM NULL OBSL1 3-M syndrome GGCGGCTTCGTGCTCAAGGTGCTTTACTGC[C/T]AGGCCAAGGATCGTGGGCTCTACGTCTGCG 23018678 chr2 220435007 220437108 INHA S chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 2 chr2 220435264 220435265 CI093474 - 6 DM NULL OBSL1 3-M syndrome GGGGCGCTGCTCCAGGTGCACCAGCCCCCC[-/C]GAGAGCCCGCCCGCGGACCCCGACGAGGCC 19481195 chr2 220435007 220437108 INHA S chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 2 chr2 220435273 220435274 CX113529 - 4 DM NULL OBSL1 3-M syndrome CGCGCAGGCGGGGGCGCTGCTCCAGGTGCA[CC/TT]AGCCCCCCGAGAGCCCGCCCGCGGACCCCG 21548126 chr2 220435007 220437108 INHA S chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 2 chr2 220435497 220435498 CX132462 - 4 DM NULL OBSL1 3-M syndrome GCGGAGGTGGTGCTGACGTGCCGGGCGGGG[GG/T]CCTCCCCGAGCCCACACTGTACTGGGAGAA 23457316 chr2 220435007 220437108 INHA S chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2 2 chr2 220437081 220437082 CR025436 + 3 DP rs35118453 INHA Premature ovarian failure: association with GCACGGGGCAGGGTGTGAGTTCCCCACTAG[T/C]AGGGCCAGGTGAGCTATGGTGCTGCACCTA 12093833 chr2 220461851 220463248 STK11IP S chr2_219596438_219596583_10000_1:chr2_219597137_219597620_11100_2:chr2_219610010_219610210_10000_1 3 . -1 -1 . -1 . . . . . . . chr2 222435699 222436339 EPHA4 F chr2_222436564_222436780_11100_1 1 . -1 -1 . -1 . . . . . . . chr2 222435819 222437510 EPHA4 F chr2_222436564_222436639_11100_1 1 . -1 -1 . -1 . . . . . . . chr2 225270813 225271015 FAM124B F chr2_225266316_225266495_10000_2 1 . -1 -1 . -1 . . . . . . . chr2 227342609 227343558 IRS1 S chr2_227665240_227665536_11000_2:chr2_227665891_227666291_11000_4 2 . -1 -1 . -1 . . . . . . . chr2 227663005 227665620 IRS1 F chr2_227665240_227665536_11000_2:chr2_227665891_227665996_11000_4 2 chr2 227663901 227663902 CR033690 - 3 DP rs13306465 IRS1 Diabetes: NIDDM: association with AAGGATATTTAATTTGCCTCGGGAATCGCT[G/A]CTTCCAGAGGGGAACTCAGGAGGGAAGGCG 14633864 chr2 227663975 227666291 IRS1 S chr2_227343168_227343441_10000_1:chr2_228316160_228316404_11000_4:chr2_228331391_228331541_11100_1 3 . -1 -1 . -1 . . . . . . . chr2 227665142 227665696 IRS1 F chr2_227665240_227665536_11000_2 1 . -1 -1 . -1 . . . . . . . chr2 228315409 228316608 CCL20 S chr2_228678311_228678597_10000_3:chr2_228679108_228679353_11000_2 2 . -1 -1 . -1 . . . . . . . chr2 228315409 228316608 IRS1 S chr2_227665240_227665536_11000_2:chr2_227665891_227666291_11000_4 2 . -1 -1 . -1 . . . . . . . chr2 228330711 228331800 CCL20 S chr2_228678311_228678597_10000_3:chr2_228679108_228679353_11000_2 2 . -1 -1 . -1 . . . . . . . chr2 228330711 228331800 IRS1 S chr2_227665240_227665536_11000_2:chr2_227665891_227666291_11000_4 2 . -1 -1 . -1 . . . . . . . chr2 228336600 228337937 AGFG1 S chr2_227343168_227343441_10000_1:chr2_227597945_227598000_11101_4:chr2_228316160_228316404_11000_4:chr2_228331391_228331541_11100_1:chr2_228683623_228683852_10000_2 5 . -1 -1 . -1 . . . . . . . chr2 228677708 228679601 CCL20 S chr2_228316160_228316404_11000_4:chr2_228331391_228331541_11100_1:chr2_228683623_228683852_10000_2 3 . -1 -1 . -1 . . . . . . . chr2 228683600 228684371 CCL20 S chr2_228678311_228678597_10000_3:chr2_228679108_228679353_11000_2 2 . -1 -1 . -1 . . . . . . . chr2 230135556 230138767 PID1 F chr2_230138445_230138700_11000_3 1 . -1 -1 . -1 . . . . . . . chr2 230138474 230138658 PID1 F chr2_230135556_230135600_10101_1:chr2_230138445_230138700_11000_3 2 . -1 -1 . -1 . . . . . . . chr2 231912000 231913456 NCL S chr2_232329196_232329320_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 231912000 231913456 PTMA S chr2_232571634_232571789_10000_1:chr2_232572655_232572802_10000_1:chr2_232573072_232573303_10000_1:chr2_232574996_232575222_10000_1 4 . -1 -1 . -1 . . . . . . . chr2 232328375 232330266 NCL S chr2_231912421_231912551_10101_1:chr2_231913393_231913456_11100_1 2 . -1 -1 . -1 . . . . . . . chr2 232570803 232576076 PTMA S chr2_231912421_231912551_10101_1:chr2_231913393_231913456_11100_1:chr2_233439411_233439819_10000_3 3 . -1 -1 . -1 . . . . . . . chr2 233439200 233440091 PTMA S chr2_232571634_232571789_10000_1:chr2_232572655_232572802_10000_1:chr2_232573072_232573303_10000_1:chr2_232574996_232575222_10000_1 4 . -1 -1 . -1 . . . . . . . chr2 233499533 233499991 EFHD1 F chr2_233497706_233497893_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 233721123 233722200 C2orf82 S chr2_233722200_233722252_11100_3 1 . -1 -1 . -1 . . . . . . . chr2 233721123 233722200 NGEF S chr2_233877188_233877394_11001_2:chr2_233877911_233878152_11101_4 2 . -1 -1 . -1 . . . . . . . chr2 233722200 233722600 C2orf82 S chr2_233721208_233721476_10000_2:chr2_233721826_233722200_11100_3 2 . -1 -1 . -1 . . . . . . . chr2 233876295 233876308 NGEF F chr2_233877188_233877394_11001_2:chr2_233877911_233878152_11101_4 2 . -1 -1 . -1 . . . . . . . chr2 233877097 233878219 NGEF S chr2_233721208_233721476_10000_2:chr2_233721826_233722200_11100_3 2 . -1 -1 . -1 . . . . . . . chr2 234160042 234161225 ATG16L1 S chr2_233721208_233721476_10000_2:chr2_233721826_233722200_11100_3 2 . -1 -1 . -1 . . . . . . . chr2 235860127 235863610 SH3BP4 F chr2_235863721_235863790_11000_1 1 . -1 -1 . -1 . . . . . . . chr2 235862299 235862667 SH3BP4 F chr2_235861635_235861816_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 235863329 235863490 SH3BP4 F chr2_235861635_235861816_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 236402232 236404874 AGAP1 F chr2_236404328_236404456_11000_1 1 . -1 -1 . -1 . . . . . . . chr2 236404372 236404974 AGAP1 F chr2_236404328_236404456_11000_1 1 . -1 -1 . -1 . . . . . . . chr2 236413220 236413800 SH3BP4 S chr2_235889812_235890381_10001_3 1 . -1 -1 . -1 . . . . . . . chr2 238392013 238396378 MLPH F chr2_238392170_238392321_11000_1 1 . -1 -1 . -1 . . . . . . . chr2 238392046 238392381 MLPH F chr2_238392170_238392321_11000_1:chr2_238393986_238394138_10000_1:chr2_238395774_238395950_11000_1 3 . -1 -1 . -1 . . . . . . . chr2 238494000 238494800 PER2 S chr2_239171789_239172296_10100_2 1 . -1 -1 . -1 . . . . . . . chr2 238498911 238499855 RAB17 S chr2_239358587_239358942_11000_3 1 . -1 -1 . -1 . . . . . . . chr2 238596312 238601307 LRRFIP1 F chr2_238596498_238596655_10000_2 1 . -1 -1 . -1 . . . . . . . chr2 238596328 238596696 LRRFIP1 F chr2_238596498_238596655_10000_2:chr2_238600799_238601010_11000_1 2 . -1 -1 . -1 . . . . . . . chr2 238598036 238598427 LRRFIP1 F chr2_238600799_238601010_11000_1 1 . -1 -1 . -1 . . . . . . . chr2 238876433 238876638 UBE2F F chr2_238875256_238875652_10000_2 1 . -1 -1 . -1 . . . . . . . chr2 239171600 239172296 PER2 S chr2_238494341_238494621_10000_1:chr2_239358587_239358942_11000_3 2 . -1 -1 . -1 . . . . . . . chr2 239344000 239344157 ASB1 S chr2_238494341_238494621_10000_1:chr2_239358587_239358942_11000_3 2 . -1 -1 . -1 . . . . . . . chr2 239358409 239359200 PER2 S chr2_239171789_239172296_10100_2 1 . -1 -1 . -1 . . . . . . . chr2 239358409 239359200 RAB17 S chr2_238498915_238499855_11000_2 1 . -1 -1 . -1 . . . . . . . chr2 240321494 240323143 HDAC4 F chr2_240321689_240321803_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 240321591 240321797 HDAC4 F chr2_240321689_240321803_10000_1:chr2_240322606_240322909_10101_2 2 . -1 -1 . -1 . . . . . . . chr2 241373489 241373922 GPC1 F chr2_241374646_241374767_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 241374121 241375615 GPC1 F chr2_241374646_241374767_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 241374162 241374480 GPC1 F chr2_241374646_241374767_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 241813148 241814505 ATG4B S chr2_242575986_242576219_11000_1:chr2_242577032_242577175_11101_1 2 chr2 241813402 241813403 CM056519 + 1 DM rs180177246 AGXT Hyperoxaluria ccgagcaaaccacccatctacagGCATCGA[C/A]ATCCTGTACTCGGGCTCCCAGAAGGCCCTG 15849466 chr2 241813148 241814505 ATG4B S chr2_242575986_242576219_11000_1:chr2_242577032_242577175_11101_1 2 chr2 241813411 241813412 CM056521 + 1 DM rs180177247 AGXT Hyperoxaluria ccacccatctacagGCATCGACATCCTGTA[C/A]TCGGGCTCCCAGAAGGCCCTGAACGCCCCT 15849466 chr2 241813148 241814505 ATG4B S chr2_242575986_242576219_11000_1:chr2_242577032_242577175_11101_1 2 chr2 241813412 241813413 CM910017 + 1 DM rs121908520 AGXT Hyperoxaluria cacccatctacagGCATCGACATCCTGTAC[T/C]CGGGCTCCCAGAAGGCCCTGAACGCCCCTC 2039493 chr2 241813148 241814505 ATG4B S chr2_242575986_242576219_11000_1:chr2_242577032_242577175_11101_1 2 chr2 241813413 241813414 CM093802 + 1 DM rs180177248 AGXT Hyperoxaluria acccatctacagGCATCGACATCCTGTACT[C/T]GGGCTCCCAGAAGGCCCTGAACGCCCCTCC 19479957 chr2 241813148 241814505 ATG4B S chr2_242575986_242576219_11000_1:chr2_242577032_242577175_11101_1 2 chr2 241813413 241813414 CM093803 + 1 DM rs180177248 AGXT Hyperoxaluria acccatctacagGCATCGACATCCTGTACT[C/A]GGGCTCCCAGAAGGCCCTGAACGCCCCTCC 19479957 chr2 241813148 241814505 ATG4B S chr2_242575986_242576219_11000_1:chr2_242577032_242577175_11101_1 2 chr2 241813441 241813444 CD093827 + 5 DM rs180177251 AGXT Hyperoxaluria CTCGGGCTCCCAGAAGGCCCTGAACGCCCC[TCCA/-]GGGACCTCGCTCATCTCCTTCAGTGACAAG 19479957 chr2 241813148 241814505 ATG4B S chr2_242575986_242576219_11000_1:chr2_242577032_242577175_11101_1 2 chr2 241813445 241813446 CM065967 + 1 DM rs180177252 AGXT Hyperoxaluria GGCTCCCAGAAGGCCCTGAACGCCCCTCCA[G/A]GGACCTCGCTCATCTCCTTCAGTGACAAGG 16543981 chr2 241813148 241814505 ATG4B S chr2_242575986_242576219_11000_1:chr2_242577032_242577175_11101_1 2 chr2 241813452 241813453 CM053748 + 1 DM rs180177253 AGXT Hyperoxaluria AGAAGGCCCTGAACGCCCCTCCAGGGACCT[C/T]GCTCATCTCCTTCAGTGACAAGGCCAAgtg 15963748 chr2 241813148 241814505 ATG4B S chr2_242575986_242576219_11000_1:chr2_242577032_242577175_11101_1 2 chr2 241813460 241813461 CM093804 + 1 DM rs180177254 AGXT Hyperoxaluria CTGAACGCCCCTCCAGGGACCTCGCTCATC[T/C]CCTTCAGTGACAAGGCCAAgtgagtgaccc 19479957 chr2 241813148 241814505 ATG4B S chr2_242575986_242576219_11000_1:chr2_242577032_242577175_11101_1 2 chr2 241813461 241813463 CD127038 + 5 DM NULL AGXT Hyperoxaluria TGAACGCCCCTCCAGGGACCTCGCTCATCT[CCT/-]TCAGTGACAAGGCCAAGTGAGTGACCCACA 22844106 chr2 241813148 241814505 ATG4B S chr2_242575986_242576219_11000_1:chr2_242577032_242577175_11101_1 2 chr2 241813478 241813481 CD013632 + 5 DM rs180177255 AGXT Hyperoxaluria ACCTCGCTCATCTCCTTCAGTGACAAGGCC[AAGT/-]GAGTGACCCACAGACCCTCACCTCTGTGCA 11708860 chr2 241813148 241814505 ATG4B S chr2_242575986_242576219_11000_1:chr2_242577032_242577175_11101_1 2 chr2 241813480 241813481 CS093818 + 2 DM rs111996685 AGXT Hyperoxaluria CTCGCTCATCTCCTTCAGTGACAAGGCCAA[G/A]tgagtgacccacagaccctcacctctgtgc 19479957 chr2 241813148 241814505 ATG4B S chr2_242575986_242576219_11000_1:chr2_242577032_242577175_11101_1 2 chr2 241813480 241813481 CS093819 + 2 DM rs111996685 AGXT Hyperoxaluria CTCGCTCATCTCCTTCAGTGACAAGGCCAA[G/C]tgagtgacccacagaccctcacctctgtgc 19479957 chr2 241813148 241814505 ATG4B S chr2_242575986_242576219_11000_1:chr2_242577032_242577175_11101_1 2 chr2 241813484 241813485 CS054172 + 2 DM rs180177256 AGXT Hyperoxaluria CTCATCTCCTTCAGTGACAAGGCCAAgtga[G/C]tgacccacagaccctcacctctgtgcaggg 15963748 chr2 241813148 241814505 HDLBP S chr2_242254561_242254685_11101_1:chr2_242255098_242255359_11101_2 2 chr2 241813402 241813403 CM056519 + 1 DM rs180177246 AGXT Hyperoxaluria ccgagcaaaccacccatctacagGCATCGA[C/A]ATCCTGTACTCGGGCTCCCAGAAGGCCCTG 15849466 chr2 241813148 241814505 HDLBP S chr2_242254561_242254685_11101_1:chr2_242255098_242255359_11101_2 2 chr2 241813411 241813412 CM056521 + 1 DM rs180177247 AGXT Hyperoxaluria ccacccatctacagGCATCGACATCCTGTA[C/A]TCGGGCTCCCAGAAGGCCCTGAACGCCCCT 15849466 chr2 241813148 241814505 HDLBP S chr2_242254561_242254685_11101_1:chr2_242255098_242255359_11101_2 2 chr2 241813412 241813413 CM910017 + 1 DM rs121908520 AGXT Hyperoxaluria cacccatctacagGCATCGACATCCTGTAC[T/C]CGGGCTCCCAGAAGGCCCTGAACGCCCCTC 2039493 chr2 241813148 241814505 HDLBP S chr2_242254561_242254685_11101_1:chr2_242255098_242255359_11101_2 2 chr2 241813413 241813414 CM093802 + 1 DM rs180177248 AGXT Hyperoxaluria acccatctacagGCATCGACATCCTGTACT[C/T]GGGCTCCCAGAAGGCCCTGAACGCCCCTCC 19479957 chr2 241813148 241814505 HDLBP S chr2_242254561_242254685_11101_1:chr2_242255098_242255359_11101_2 2 chr2 241813413 241813414 CM093803 + 1 DM rs180177248 AGXT Hyperoxaluria acccatctacagGCATCGACATCCTGTACT[C/A]GGGCTCCCAGAAGGCCCTGAACGCCCCTCC 19479957 chr2 241813148 241814505 HDLBP S chr2_242254561_242254685_11101_1:chr2_242255098_242255359_11101_2 2 chr2 241813441 241813444 CD093827 + 5 DM rs180177251 AGXT Hyperoxaluria CTCGGGCTCCCAGAAGGCCCTGAACGCCCC[TCCA/-]GGGACCTCGCTCATCTCCTTCAGTGACAAG 19479957 chr2 241813148 241814505 HDLBP S chr2_242254561_242254685_11101_1:chr2_242255098_242255359_11101_2 2 chr2 241813445 241813446 CM065967 + 1 DM rs180177252 AGXT Hyperoxaluria GGCTCCCAGAAGGCCCTGAACGCCCCTCCA[G/A]GGACCTCGCTCATCTCCTTCAGTGACAAGG 16543981 chr2 241813148 241814505 HDLBP S chr2_242254561_242254685_11101_1:chr2_242255098_242255359_11101_2 2 chr2 241813452 241813453 CM053748 + 1 DM rs180177253 AGXT Hyperoxaluria AGAAGGCCCTGAACGCCCCTCCAGGGACCT[C/T]GCTCATCTCCTTCAGTGACAAGGCCAAgtg 15963748 chr2 241813148 241814505 HDLBP S chr2_242254561_242254685_11101_1:chr2_242255098_242255359_11101_2 2 chr2 241813460 241813461 CM093804 + 1 DM rs180177254 AGXT Hyperoxaluria CTGAACGCCCCTCCAGGGACCTCGCTCATC[T/C]CCTTCAGTGACAAGGCCAAgtgagtgaccc 19479957 chr2 241813148 241814505 HDLBP S chr2_242254561_242254685_11101_1:chr2_242255098_242255359_11101_2 2 chr2 241813461 241813463 CD127038 + 5 DM NULL AGXT Hyperoxaluria TGAACGCCCCTCCAGGGACCTCGCTCATCT[CCT/-]TCAGTGACAAGGCCAAGTGAGTGACCCACA 22844106 chr2 241813148 241814505 HDLBP S chr2_242254561_242254685_11101_1:chr2_242255098_242255359_11101_2 2 chr2 241813478 241813481 CD013632 + 5 DM rs180177255 AGXT Hyperoxaluria ACCTCGCTCATCTCCTTCAGTGACAAGGCC[AAGT/-]GAGTGACCCACAGACCCTCACCTCTGTGCA 11708860 chr2 241813148 241814505 HDLBP S chr2_242254561_242254685_11101_1:chr2_242255098_242255359_11101_2 2 chr2 241813480 241813481 CS093818 + 2 DM rs111996685 AGXT Hyperoxaluria CTCGCTCATCTCCTTCAGTGACAAGGCCAA[G/A]tgagtgacccacagaccctcacctctgtgc 19479957 chr2 241813148 241814505 HDLBP S chr2_242254561_242254685_11101_1:chr2_242255098_242255359_11101_2 2 chr2 241813480 241813481 CS093819 + 2 DM rs111996685 AGXT Hyperoxaluria CTCGCTCATCTCCTTCAGTGACAAGGCCAA[G/C]tgagtgacccacagaccctcacctctgtgc 19479957 chr2 241813148 241814505 HDLBP S chr2_242254561_242254685_11101_1:chr2_242255098_242255359_11101_2 2 chr2 241813484 241813485 CS054172 + 2 DM rs180177256 AGXT Hyperoxaluria CTCATCTCCTTCAGTGACAAGGCCAAgtga[G/C]tgacccacagaccctcacctctgtgcaggg 15963748 chr2 241813148 241814505 NEU4 S chr2_242750091_242750398_00000_1 1 chr2 241813402 241813403 CM056519 + 1 DM rs180177246 AGXT Hyperoxaluria ccgagcaaaccacccatctacagGCATCGA[C/A]ATCCTGTACTCGGGCTCCCAGAAGGCCCTG 15849466 chr2 241813148 241814505 NEU4 S chr2_242750091_242750398_00000_1 1 chr2 241813411 241813412 CM056521 + 1 DM rs180177247 AGXT Hyperoxaluria ccacccatctacagGCATCGACATCCTGTA[C/A]TCGGGCTCCCAGAAGGCCCTGAACGCCCCT 15849466 chr2 241813148 241814505 NEU4 S chr2_242750091_242750398_00000_1 1 chr2 241813412 241813413 CM910017 + 1 DM rs121908520 AGXT Hyperoxaluria cacccatctacagGCATCGACATCCTGTAC[T/C]CGGGCTCCCAGAAGGCCCTGAACGCCCCTC 2039493 chr2 241813148 241814505 NEU4 S chr2_242750091_242750398_00000_1 1 chr2 241813413 241813414 CM093802 + 1 DM rs180177248 AGXT Hyperoxaluria acccatctacagGCATCGACATCCTGTACT[C/T]GGGCTCCCAGAAGGCCCTGAACGCCCCTCC 19479957 chr2 241813148 241814505 NEU4 S chr2_242750091_242750398_00000_1 1 chr2 241813413 241813414 CM093803 + 1 DM rs180177248 AGXT Hyperoxaluria acccatctacagGCATCGACATCCTGTACT[C/A]GGGCTCCCAGAAGGCCCTGAACGCCCCTCC 19479957 chr2 241813148 241814505 NEU4 S chr2_242750091_242750398_00000_1 1 chr2 241813441 241813444 CD093827 + 5 DM rs180177251 AGXT Hyperoxaluria CTCGGGCTCCCAGAAGGCCCTGAACGCCCC[TCCA/-]GGGACCTCGCTCATCTCCTTCAGTGACAAG 19479957 chr2 241813148 241814505 NEU4 S chr2_242750091_242750398_00000_1 1 chr2 241813445 241813446 CM065967 + 1 DM rs180177252 AGXT Hyperoxaluria GGCTCCCAGAAGGCCCTGAACGCCCCTCCA[G/A]GGACCTCGCTCATCTCCTTCAGTGACAAGG 16543981 chr2 241813148 241814505 NEU4 S chr2_242750091_242750398_00000_1 1 chr2 241813452 241813453 CM053748 + 1 DM rs180177253 AGXT Hyperoxaluria AGAAGGCCCTGAACGCCCCTCCAGGGACCT[C/T]GCTCATCTCCTTCAGTGACAAGGCCAAgtg 15963748 chr2 241813148 241814505 NEU4 S chr2_242750091_242750398_00000_1 1 chr2 241813460 241813461 CM093804 + 1 DM rs180177254 AGXT Hyperoxaluria CTGAACGCCCCTCCAGGGACCTCGCTCATC[T/C]CCTTCAGTGACAAGGCCAAgtgagtgaccc 19479957 chr2 241813148 241814505 NEU4 S chr2_242750091_242750398_00000_1 1 chr2 241813461 241813463 CD127038 + 5 DM NULL AGXT Hyperoxaluria TGAACGCCCCTCCAGGGACCTCGCTCATCT[CCT/-]TCAGTGACAAGGCCAAGTGAGTGACCCACA 22844106 chr2 241813148 241814505 NEU4 S chr2_242750091_242750398_00000_1 1 chr2 241813478 241813481 CD013632 + 5 DM rs180177255 AGXT Hyperoxaluria ACCTCGCTCATCTCCTTCAGTGACAAGGCC[AAGT/-]GAGTGACCCACAGACCCTCACCTCTGTGCA 11708860 chr2 241813148 241814505 NEU4 S chr2_242750091_242750398_00000_1 1 chr2 241813480 241813481 CS093818 + 2 DM rs111996685 AGXT Hyperoxaluria CTCGCTCATCTCCTTCAGTGACAAGGCCAA[G/A]tgagtgacccacagaccctcacctctgtgc 19479957 chr2 241813148 241814505 NEU4 S chr2_242750091_242750398_00000_1 1 chr2 241813480 241813481 CS093819 + 2 DM rs111996685 AGXT Hyperoxaluria CTCGCTCATCTCCTTCAGTGACAAGGCCAA[G/C]tgagtgacccacagaccctcacctctgtgc 19479957 chr2 241813148 241814505 NEU4 S chr2_242750091_242750398_00000_1 1 chr2 241813484 241813485 CS054172 + 2 DM rs180177256 AGXT Hyperoxaluria CTCATCTCCTTCAGTGACAAGGCCAAgtga[G/C]tgacccacagaccctcacctctgtgcaggg 15963748 chr2 241813148 241814505 STK25 S chr2_242448099_242448244_10100_1 1 chr2 241813402 241813403 CM056519 + 1 DM rs180177246 AGXT Hyperoxaluria ccgagcaaaccacccatctacagGCATCGA[C/A]ATCCTGTACTCGGGCTCCCAGAAGGCCCTG 15849466 chr2 241813148 241814505 STK25 S chr2_242448099_242448244_10100_1 1 chr2 241813411 241813412 CM056521 + 1 DM rs180177247 AGXT Hyperoxaluria ccacccatctacagGCATCGACATCCTGTA[C/A]TCGGGCTCCCAGAAGGCCCTGAACGCCCCT 15849466 chr2 241813148 241814505 STK25 S chr2_242448099_242448244_10100_1 1 chr2 241813412 241813413 CM910017 + 1 DM rs121908520 AGXT Hyperoxaluria cacccatctacagGCATCGACATCCTGTAC[T/C]CGGGCTCCCAGAAGGCCCTGAACGCCCCTC 2039493 chr2 241813148 241814505 STK25 S chr2_242448099_242448244_10100_1 1 chr2 241813413 241813414 CM093802 + 1 DM rs180177248 AGXT Hyperoxaluria acccatctacagGCATCGACATCCTGTACT[C/T]GGGCTCCCAGAAGGCCCTGAACGCCCCTCC 19479957 chr2 241813148 241814505 STK25 S chr2_242448099_242448244_10100_1 1 chr2 241813413 241813414 CM093803 + 1 DM rs180177248 AGXT Hyperoxaluria acccatctacagGCATCGACATCCTGTACT[C/A]GGGCTCCCAGAAGGCCCTGAACGCCCCTCC 19479957 chr2 241813148 241814505 STK25 S chr2_242448099_242448244_10100_1 1 chr2 241813441 241813444 CD093827 + 5 DM rs180177251 AGXT Hyperoxaluria CTCGGGCTCCCAGAAGGCCCTGAACGCCCC[TCCA/-]GGGACCTCGCTCATCTCCTTCAGTGACAAG 19479957 chr2 241813148 241814505 STK25 S chr2_242448099_242448244_10100_1 1 chr2 241813445 241813446 CM065967 + 1 DM rs180177252 AGXT Hyperoxaluria GGCTCCCAGAAGGCCCTGAACGCCCCTCCA[G/A]GGACCTCGCTCATCTCCTTCAGTGACAAGG 16543981 chr2 241813148 241814505 STK25 S chr2_242448099_242448244_10100_1 1 chr2 241813452 241813453 CM053748 + 1 DM rs180177253 AGXT Hyperoxaluria AGAAGGCCCTGAACGCCCCTCCAGGGACCT[C/T]GCTCATCTCCTTCAGTGACAAGGCCAAgtg 15963748 chr2 241813148 241814505 STK25 S chr2_242448099_242448244_10100_1 1 chr2 241813460 241813461 CM093804 + 1 DM rs180177254 AGXT Hyperoxaluria CTGAACGCCCCTCCAGGGACCTCGCTCATC[T/C]CCTTCAGTGACAAGGCCAAgtgagtgaccc 19479957 chr2 241813148 241814505 STK25 S chr2_242448099_242448244_10100_1 1 chr2 241813461 241813463 CD127038 + 5 DM NULL AGXT Hyperoxaluria TGAACGCCCCTCCAGGGACCTCGCTCATCT[CCT/-]TCAGTGACAAGGCCAAGTGAGTGACCCACA 22844106 chr2 241813148 241814505 STK25 S chr2_242448099_242448244_10100_1 1 chr2 241813478 241813481 CD013632 + 5 DM rs180177255 AGXT Hyperoxaluria ACCTCGCTCATCTCCTTCAGTGACAAGGCC[AAGT/-]GAGTGACCCACAGACCCTCACCTCTGTGCA 11708860 chr2 241813148 241814505 STK25 S chr2_242448099_242448244_10100_1 1 chr2 241813480 241813481 CS093818 + 2 DM rs111996685 AGXT Hyperoxaluria CTCGCTCATCTCCTTCAGTGACAAGGCCAA[G/A]tgagtgacccacagaccctcacctctgtgc 19479957 chr2 241813148 241814505 STK25 S chr2_242448099_242448244_10100_1 1 chr2 241813480 241813481 CS093819 + 2 DM rs111996685 AGXT Hyperoxaluria CTCGCTCATCTCCTTCAGTGACAAGGCCAA[G/C]tgagtgacccacagaccctcacctctgtgc 19479957 chr2 241813148 241814505 STK25 S chr2_242448099_242448244_10100_1 1 chr2 241813484 241813485 CS054172 + 2 DM rs180177256 AGXT Hyperoxaluria CTCATCTCCTTCAGTGACAAGGCCAAgtga[G/C]tgacccacagaccctcacctctgtgcaggg 15963748 chr2 242253810 242256467 HDLBP S chr2_241813506_241813848_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 242446852 242449097 STK25 S chr2_241813506_241813848_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 242497645 242500721 BOK F chr2_242500495_242500718_10100_1 1 . -1 -1 . -1 . . . . . . . chr2 242500447 242500594 BOK F chr2_242498037_242498166_10100_1:chr2_242499319_242499577_10100_3:chr2_242500495_242500718_10100_1 3 . -1 -1 . -1 . . . . . . . chr2 242575703 242577590 ATG4B S chr2_241813506_241813848_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 242592600 242593347 MTERFD2 S chr2_242040842_242041042_10000_1:chr2_242041697_242041853_10000_1 2 . -1 -1 . -1 . . . . . . . chr2 242592600 242593347 STK25 S chr2_242448099_242448244_10100_1 1 . -1 -1 . -1 . . . . . . . chr2 242640543 242642694 ING5 S chr2_241813506_241813848_10000_1 1 . -1 -1 . -1 . . . . . . . chr2 242749728 242751333 NEU4 S chr2_241813506_241813848_10000_1 1 . -1 -1 . -1 . . . . . . . chr3 8486000 8486758 SETD5 S chr3_9464427_9464673_11111_3 1 . -1 -1 . -1 . . . . . . . chr3 9464366 9465130 SETD5 S chr3_10245668_10245975_11000_3:chr3_8486111_8486435_10010_4 2 . -1 -1 . -1 . . . . . . . chr3 10245200 10246340 SETD5 S chr3_9464427_9464673_11111_3 1 . -1 -1 . -1 . . . . . . . chr3 10545766 10546079 ATP2B2 F chr3_10546755_10546906_11010_1:chr3_10547692_10547768_11100_1 2 . -1 -1 . -1 . . . . . . . chr3 11314967 11316155 ATG7 F chr3_11313946_11314163_11010_2 1 . -1 -1 . -1 . . . . . . . chr3 12392500 12395671 PPARG F chr3_12395401_12395636_11111_2 1 chr3 12393125 12393126 CM981614 + 1 DFP rs1801282 PPARG Obesity: association with GGTGAAACTCTGGGAGATTCTCCTATTGAC[C/G]CAGAAAGCGATTCCTTCACTGATACACTGT 9792554 chr3 12395386 12395555 PPARG F chr3_12392710_12393135_11111_4:chr3_12395401_12395636_11111_2 2 . -1 -1 . -1 . . . . . . . chr3 14167210 14167731 TMEM43 F chr3_14166321_14166571_10000_2 1 . -1 -1 . -1 . . . . . . . chr3 15835826 15836097 ANKRD28 F chr3_15839419_15839538_11000_1 1 . -1 -1 . -1 . . . . . . . chr3 15901875 15902313 ANKRD28 F chr3_15900552_15900686_11000_4 1 . -1 -1 . -1 . . . . . . . chr3 16218160 16218375 GALNTL2 F chr3_16215950_16216179_11000_1 1 . -1 -1 . -1 . . . . . . . chr3 16219854 16220197 GALNTL2 F chr3_16215950_16216179_11000_1 1 . -1 -1 . -1 . . . . . . . chr3 20081023 20083178 KAT2B F chr3_20083074_20083255_11100_2 1 . -1 -1 . -1 . . . . . . . chr3 20082717 20083237 KAT2B F chr3_20081457_20081567_11100_1:chr3_20083074_20083178_11100_2 2 . -1 -1 . -1 . . . . . . . chr3 30646968 30647109 TGFBR2 F chr3_30647757_30648189_11100_2 1 . -1 -1 . -1 . . . . . . . chr3 31329725 31330743 CMTM8 S chr3_32281871_32281882_11000_1 1 . -1 -1 . -1 . . . . . . . chr3 33837400 33837658 PDCD6IP F chr3_33839687_33840190_11000_2 1 . -1 -1 . -1 . . . . . . . chr3 37901883 37902306 CTDSPL F chr3_37901939_37902351_11100_2 1 . -1 -1 . -1 . . . . . . . chr3 37901894 37904169 CTDSPL F chr3_37901939_37902351_11100_2 1 . -1 -1 . -1 . . . . . . . chr3 38206525 38208302 OXSR1 F chr3_38207717_38207847_11000_1 1 . -1 -1 . -1 . . . . . . . chr3 38207945 38208258 OXSR1 F chr3_38206525_38206578_11100_1:chr3_38206918_38207193_11101_1:chr3_38207717_38207847_11000_1 3 . -1 -1 . -1 . . . . . . . chr3 38209266 38209592 OXSR1 F chr3_38206525_38206578_11100_1:chr3_38206918_38207193_11101_1:chr3_38207717_38207847_11000_1 3 . -1 -1 . -1 . . . . . . . chr3 38210566 38210752 OXSR1 F chr3_38206525_38206578_11100_1:chr3_38206918_38207193_11101_1:chr3_38207717_38207847_11000_1 3 . -1 -1 . -1 . . . . . . . chr3 39192381 39192719 CSRNP1 F chr3_39195125_39195366_11000_1 1 . -1 -1 . -1 . . . . . . . chr3 42002407 42002746 ULK4 F chr3_42003415_42004001_10000_2 1 . -1 -1 . -1 . . . . . . . chr3 46035131 46035483 FYCO1 F chr3_46037201_46037424_11111_2 1 . -1 -1 . -1 . . . . . . . chr3 46036343 46036779 FYCO1 F chr3_46037201_46037424_11111_2 1 . -1 -1 . -1 . . . . . . . chr3 46445679 46445962 CCRL2 F chr3_46446815_46447000_10000_2:chr3_46446815_46447000_10000_2 2 . -1 -1 . -1 . . . . . . . chr3 46446451 46447230 CCRL2 F chr3_46446815_46447000_10000_2:chr3_46446815_46447000_10000_2 2 . -1 -1 . -1 . . . . . . . chr3 46446640 46449221 CCRL2 F chr3_46446815_46447000_10000_2 1 . -1 -1 . -1 . . . . . . . chr3 46446640 46449549 CCRL2 F chr3_46446815_46447000_10000_2 1 . -1 -1 . -1 . . . . . . . chr3 46606309 46606464 LRRC2 F chr3_46607640_46607837_11000_1 1 . -1 -1 . -1 . . . . . . . chr3 46989400 46991200 SCAP S chr3_47516600_47516819_10000_2:chr3_47517346_47517595_10000_1 2 . -1 -1 . -1 . . . . . . . chr3 47201175 47201471 SETD2 F chr3_47204004_47204162_10100_1:chr3_47204750_47204893_10110_1:chr3_47205548_47205789_10110_1 3 . -1 -1 . -1 . . . . . . . chr3 47516600 47517813 SCAP S chr3_46989525_46989973_11000_3:chr3_46990798_46990953_10000_1 2 chr3 47517344 47517345 CR024618 - 3 FP NULL SCAP Reduced promoter activity GAGCGCGCACGCCGCGCTCCGCCCCTGCTG[C/T]CGCCCCCGTCGCCGCCGCCGCCGCCGCCGC 12202990 chr3 47845454 47845505 DHX30 F chr3_47844580_47844727_11101_1 1 . -1 -1 . -1 . . . . . . . chr3 48593726 48596393 PFKFB4 F chr3_48595685_48595834_11000_1 1 . -1 -1 . -1 . . . . . . . chr3 48595913 48596471 PFKFB4 F chr3_48594405_48594567_11111_1:chr3_48595685_48595834_11000_1 2 . -1 -1 . -1 . . . . . . . chr3 50239276 50243192 SLC38A3 F chr3_50239095_50239584_11111_2 1 . -1 -1 . -1 . . . . . . . chr3 50239388 50239565 SLC38A3 F chr3_50239276_50239584_11111_2:chr3_50240929_50241058_11111_1 2 . -1 -1 . -1 . . . . . . . chr3 50242191 50243785 SLC38A3 F chr3_50243420_50243675_11111_2 1 . -1 -1 . -1 . . . . . . . chr3 50243484 50243685 SLC38A3 F chr3_50243420_50243675_11111_2 1 . -1 -1 . -1 . . . . . . . chr3 50274525 50274666 GNAI2 F chr3_50273146_50273456_11101_1 1 . -1 -1 . -1 . . . . . . . chr3 50297405 50298700 ENSG00000114353 S chr3_49708710_49708939_11111_2:chr3_49709241_49709316_11100_1 2 . -1 -1 . -1 . . . . . . . chr3 50650716 50650897 CISH F chr3_50649216_50649703_11111_2 1 . -1 -1 . -1 . . . . . . . chr3 50650716 50650897 MAPKAPK3 F chr3_50654121_50654235_10010_1 1 . -1 -1 . -1 . . . . . . . chr3 50657930 50658131 MAPKAPK3 F chr3_50654121_50654235_10010_1 1 . -1 -1 . -1 . . . . . . . chr3 52016426 52017791 ABHD14B S chr3_52716074_52716167_11111_3 1 . -1 -1 . -1 . . . . . . . chr3 52089960 52091619 DUSP7 F chr3_52091495_52091688_11100_2 1 . -1 -1 . -1 . . . . . . . chr3 52091161 52091675 DUSP7 F chr3_52091495_52091619_11100_2 1 . -1 -1 . -1 . . . . . . . chr3 52271529 52273683 TWF2 F chr3_52271913_52272057_10000_1 1 . -1 -1 . -1 . . . . . . . chr3 52271619 52271840 TWF2 F chr3_52271913_52272057_10000_1:chr3_52272200_52272522_10000_1:chr3_52273209_52273364_10100_1 3 . -1 -1 . -1 . . . . . . . chr3 52325638 52325730 WDR82 S chr3_52244717_52245004_11110_3:chr3_52716074_52716167_11111_3 2 . -1 -1 . -1 . . . . . . . chr3 52332240 52334127 ABHD14B S chr3_52016426_52016778_10101_1:chr3_52017234_52017658_10111_1 2 . -1 -1 . -1 . . . . . . . chr3 52715811 52716167 ABHD14B S chr3_52016426_52016778_10101_1:chr3_52017234_52017658_10111_1 2 . -1 -1 . -1 . . . . . . . chr3 53380883 53380907 DCP1A F chr3_53381587_53381785_11111_1 1 . -1 -1 . -1 . . . . . . . chr3 53876948 53880920 CHDH F chr3_53876927_53877250_11111_4:chr3_53877413_53877598_11000_1 2 . -1 -1 . -1 . . . . . . . chr3 53876999 53877298 CHDH F chr3_53876948_53877250_11111_4:chr3_53877413_53877703_11000_1:chr3_53878794_53879114_11111_1:chr3_53880330_53880583_11100_1 4 . -1 -1 . -1 . . . . . . . chr3 55518078 55518594 WNT5A F chr3_55520149_55520339_11000_1:chr3_55520599_55520726_10000_1 2 . -1 -1 . -1 . . . . . . . chr3 57436081 57437530 RPP14 S chr3_58291814_58292043_11101_3:chr3_58292872_58293037_10101_1 2 . -1 -1 . -1 . . . . . . . chr3 57946966 57947898 RPP14 S chr3_58291814_58292043_11101_3:chr3_58292872_58293037_10101_1 2 . -1 -1 . -1 . . . . . . . chr3 57977870 57979000 RPP14 S chr3_58291814_58292043_11101_3:chr3_58292872_58293037_10101_1 2 . -1 -1 . -1 . . . . . . . chr3 58007200 58007927 RPP14 S chr3_58291814_58292043_11101_3:chr3_58292872_58293037_10101_1 2 . -1 -1 . -1 . . . . . . . chr3 58025800 58026400 RPP14 S chr3_58291814_58292043_11101_3:chr3_58292872_58293037_10101_1 2 . -1 -1 . -1 . . . . . . . chr3 58027600 58028200 RPP14 S chr3_58291814_58292043_11101_3:chr3_58292872_58293037_10101_1 2 . -1 -1 . -1 . . . . . . . chr3 58028600 58028894 RPP14 S chr3_58291814_58292043_11101_3:chr3_58292872_58293037_10101_1 2 . -1 -1 . -1 . . . . . . . chr3 58034061 58035724 RPP14 S chr3_58291814_58292043_11101_3:chr3_58292872_58293037_10101_1 2 . -1 -1 . -1 . . . . . . . chr3 58044335 58046089 RPP14 S chr3_58291814_58292043_11101_3:chr3_58292872_58293037_10101_1 2 . -1 -1 . -1 . . . . . . . chr3 58051212 58051868 RPP14 S chr3_58291814_58292043_11101_3:chr3_58292872_58293037_10101_1 2 . -1 -1 . -1 . . . . . . . chr3 58053800 58054200 RPP14 S chr3_58291814_58292043_11101_3:chr3_58292872_58293037_10101_1 2 . -1 -1 . -1 . . . . . . . chr3 58087231 58089327 RPP14 S chr3_58291814_58292043_11101_3:chr3_58292872_58293037_10101_1 2 . -1 -1 . -1 . . . . . . . chr3 58178896 58179400 RPP14 S chr3_58291814_58292043_11101_3:chr3_58292872_58293037_10101_1 2 . -1 -1 . -1 . . . . . . . chr3 58199897 58203198 DNASE1L3 F chr3_58203015_58203331_11100_1 1 . -1 -1 . -1 . . . . . . . chr3 58202964 58203031 DNASE1L3 F chr3_58200432_58200733_11001_2:chr3_58203015_58203198_11100_1 2 . -1 -1 . -1 . . . . . . . chr3 58291792 58293068 RPP14 S chr3_57436616_57436793_10000_1:chr3_58007812_58007927_10000_1:chr3_58025933_58026134_11011_2:chr3_58027872_58028004_11000_1:chr3_58034255_58034422_11000_1:chr3_58045300_58045686_11111_3:chr3_58053920_58054030_10000_1:chr3_58087667_58087967_11010_3:chr3_58088754_58088984_11010_1:chr3_58179189_58179400_11000_3 10 . -1 -1 . -1 . . . . . . . chr3 66022863 66023161 MAGI1 F chr3_66024156_66024718_11111_1 1 . -1 -1 . -1 . . . . . . . chr3 67050514 67050733 KBTBD8 F chr3_67048470_67048586_00000_1:chr3_67049160_67049281_00000_1 2 . -1 -1 . -1 . . . . . . . chr3 69789363 69789667 MITF F chr3_69788389_69788524_11111_1 1 . -1 -1 . -1 . . . . . . . chr3 69790676 69790712 MITF F chr3_69788389_69788524_11111_1 1 . -1 -1 . -1 . . . . . . . chr3 71771089 71771328 EIF4E3 F chr3_71773830_71773949_11100_1 1 . -1 -1 . -1 . . . . . . . chr3 71772738 71773033 EIF4E3 F chr3_71773830_71773949_11100_1 1 . -1 -1 . -1 . . . . . . . chr3 98449231 98449446 ST3GAL6 F chr3_98450618_98450769_11000_1:chr3_98451061_98451371_11100_4 2 . -1 -1 . -1 . . . . . . . chr3 101403455 101403770 RPL24 F chr3_101405587_101405991_10101_3 1 . -1 -1 . -1 . . . . . . . chr3 101546333 101547965 NFKBIZ F chr3_101547347_101547391_11101_2:chr3_101548023_101548182_11000_1 2 . -1 -1 . -1 . . . . . . . chr3 101547647 101547882 NFKBIZ F chr3_101546513_101547391_11101_2 1 . -1 -1 . -1 . . . . . . . chr3 105081269 105081374 ALCAM F chr3_105084362_105084500_10001_1:chr3_105085284_105085790_11101_2 2 . -1 -1 . -1 . . . . . . . chr3 105085056 105088244 ALCAM F chr3_105087616_105088012_11001_2 1 chr3 105086085 105086086 CR1111108 + 3 DFP rs6437585 ALCAM Breast cancer: increased risk: association with TGGGGGCATTGCGTGGTGGAAAGTTGCGTG[C/T]GGCAGAGAACCGAAGGTGCAGCGCCACAGC 21293922 chr3 105085056 105088593 ALCAM F chr3_105087970_105088012_11001_2 1 chr3 105086085 105086086 CR1111108 + 3 DFP rs6437585 ALCAM Breast cancer: increased risk: association with TGGGGGCATTGCGTGGTGGAAAGTTGCGTG[C/T]GGCAGAGAACCGAAGGTGCAGCGCCACAGC 21293922 chr3 105087916 105088171 ALCAM F chr3_105085284_105085790_11101_2:chr3_105086453_105086919_11100_2:chr3_105087595_105088012_11001_2 3 . -1 -1 . -1 . . . . . . . chr3 105088270 105088514 ALCAM F chr3_105085284_105085790_11101_2:chr3_105086453_105086919_11100_2:chr3_105087595_105088012_11001_2 3 . -1 -1 . -1 . . . . . . . chr3 107807468 107807936 CD47 F chr3_107809900_107810059_10100_2 1 . -1 -1 . -1 . . . . . . . chr3 111450826 111454375 PHLDB2 F chr3_111454333_111454525_11001_3 1 . -1 -1 . -1 . . . . . . . chr3 111454124 111454225 PHLDB2 F chr3_111451195_111451420_11101_4:chr3_111452005_111452446_11101_2:chr3_111454333_111454375_11001_3 3 . -1 -1 . -1 . . . . . . . chr3 114100743 114101091 ZBTB20 F chr3_114102772_114102964_11101_1 1 . -1 -1 . -1 . . . . . . . chr3 119277980 119281657 CD80 F chr3_119281193_119281343_10000_1 1 . -1 -1 . -1 . . . . . . . chr3 119281143 119281770 CD80 F chr3_119281193_119281343_10000_1 1 . -1 -1 . -1 . . . . . . . chr3 122041409 122041544 CSTA F chr3_122043744_122043941_11000_1 1 . -1 -1 . -1 . . . . . . . chr3 122516218 122516436 DIRC2 F chr3_122513883_122514011_11000_1 1 . -1 -1 . -1 . . . . . . . chr3 122516218 122516436 HSPBAP1 F chr3_122512287_122512834_11000_3:chr3_122513883_122514011_11000_1 2 . -1 -1 . -1 . . . . . . . chr3 122785355 122787697 PDIA5 F chr3_122787268_122787948_11101_4 1 . -1 -1 . -1 . . . . . . . chr3 122787344 122787648 PDIA5 F chr3_122785663_122786165_11101_1:chr3_122787268_122787697_11101_4 2 . -1 -1 . -1 . . . . . . . chr3 123304962 123305362 PTPLB F chr3_123303904_123304125_11101_2 1 . -1 -1 . -1 . . . . . . . chr3 124604996 124606644 ITGB5 F chr3_124605430_124605640_10101_1 1 . -1 -1 . -1 . . . . . . . chr3 124605050 124605342 ITGB5 F chr3_124605430_124605640_10101_1:chr3_124606127_124606360_10001_1 2 . -1 -1 . -1 . . . . . . . chr3 124770854 124771405 HEG1 F chr3_124773293_124773599_11101_4:chr3_124774924_124775302_11100_3 2 . -1 -1 . -1 . . . . . . . chr3 126074775 126075511 KLF15 F chr3_126074943_126075048_11110_3 1 . -1 -1 . -1 . . . . . . . chr3 126074943 126076736 KLF15 F chr3_126074706_126075048_11110_3 1 . -1 -1 . -1 . . . . . . . chr3 127539439 127542201 MGLL F chr3_127539167_127539530_10000_3 1 chr3 127540645 127540646 CM109135 - 1 DM rs201175620 MGLL Obesity AAGACCCTTCCAGCATGCCAGAGGAAAGTT[C/T]CCCCAGGCGGACCCCGCAGAGCATTCCCTA 21118518 chr3 127539439 127542551 MGLL F chr3_127539167_127539530_10000_3 1 chr3 127540645 127540646 CM109135 - 1 DM rs201175620 MGLL Obesity AAGACCCTTCCAGCATGCCAGAGGAAAGTT[C/T]CCCCAGGCGGACCCCGCAGAGCATTCCCTA 21118518 chr3 127539467 127539812 MGLL F chr3_127539439_127539530_10000_3:chr3_127539439_127539530_10000_3:chr3_127542189_127542201_10010_1:chr3_127542189_127542317_10010_1 4 . -1 -1 . -1 . . . . . . . chr3 128837764 128838022 RAB43 F chr3_128838450_128838875_11111_4:chr3_128838450_128838875_11111_4:chr3_128838450_128838875_11111_4:chr3_128838450_128838875_11111_4:chr3_128839303_128839667_11111_2:chr3_128839303_128839667_11111_2:chr3_128839303_128839667_11111_2:chr3_128839303_128839667_11111_2:chr3_128840769_128841117_11100_1:chr3_128840769_128841117_11100_1:chr3_128840769_128841117_11100_1:chr3_128840769_128841117_11100_1 12 . -1 -1 . -1 . . . . . . . chr3 128838403 128841147 RAB43 F chr3_128838450_128838875_11111_4 1 . -1 -1 . -1 . . . . . . . chr3 128838403 128841265 RAB43 F chr3_128838450_128838875_11111_4 1 . -1 -1 . -1 . . . . . . . chr3 128838403 128841357 RAB43 F chr3_128838450_128838875_11111_4 1 . -1 -1 . -1 . . . . . . . chr3 128838403 128841493 RAB43 F chr3_128838450_128838875_11111_4 1 . -1 -1 . -1 . . . . . . . chr3 128838520 128838686 RAB43 F chr3_128838450_128838875_11111_4:chr3_128838450_128838875_11111_4:chr3_128838450_128838875_11111_4:chr3_128838450_128838875_11111_4:chr3_128839303_128839667_11111_2:chr3_128839303_128839667_11111_2:chr3_128839303_128839667_11111_2:chr3_128839303_128839667_11111_2:chr3_128840769_128841117_11100_1:chr3_128840769_128841117_11100_1:chr3_128840769_128841117_11100_1:chr3_128840769_128841117_11100_1 12 . -1 -1 . -1 . . . . . . . chr3 129317200 129317399 RAB43 S chr3_128838519_128838840_11111_4 1 . -1 -1 . -1 . . . . . . . chr3 133449890 133450107 TF S chr3_133464993_133465260_11000_3 1 . -1 -1 . -1 . . . . . . . chr3 133464590 133466028 TF S chr3_133449915_133450107_11000_3 1 chr3 133464684 133464685 CR043391 + 3 FP rs4481157 TF Altered promoter activity GGCAGGAAGAGGGAGCAGCTCCTCCGTGGG[G/A]GACCTTTGAGAGCCCAGGAGCAGGATTTCG 15511631 chr3 133464590 133466028 TF S chr3_133449915_133450107_11000_3 1 chr3 133465201 133465202 CR043390 + 3 FP rs8177186 TF Altered promoter activity CAAAGATTGCGCCCAGCCCGCCCAGGCCGG[G/T]AATGGAATAAAGGGACGCGGGGCGCCGGAG 15511631 chr3 134206320 134206511 CEP63 F chr3_134204074_134204159_10000_1:chr3_134204808_134205307_10101_2:chr3_134204808_134205307_10101_2:chr3_134204808_134205307_10101_2 4 . -1 -1 . -1 . . . . . . . chr3 142164400 142165110 XRN1 F chr3_142164610_142165022_11000_3:chr3_142166167_142166355_11000_1:chr3_142166833_142167165_11101_2 3 . -1 -1 . -1 . . . . . . . chr3 142164555 142167353 XRN1 F chr3_142164610_142165022_11000_3 1 . -1 -1 . -1 . . . . . . . chr3 143693787 143694146 C3orf58 F chr3_143692210_143692320_10101_1:chr3_143692210_143692320_10101_1:chr3_143692696_143692826_11101_1:chr3_143692696_143692826_11101_1 4 . -1 -1 . -1 . . . . . . . chr3 143696383 143696503 C3orf58 F chr3_143692210_143692320_10101_1:chr3_143692696_143692826_11101_1 2 . -1 -1 . -1 . . . . . . . chr3 145883195 145883481 PLOD2 F chr3_145878892_145879202_11000_2:chr3_145881463_145881682_10000_2 2 . -1 -1 . -1 . . . . . . . chr3 146259909 146260381 PLSCR1 F chr3_146262287_146262527_11000_3 1 . -1 -1 . -1 . . . . . . . chr3 149191867 149194644 TM4SF4 F chr3_149194142_149194465_10000_3 1 . -1 -1 . -1 . . . . . . . chr3 149194266 149194620 TM4SF4 F chr3_149192225_149192474_10000_4:chr3_149194142_149194465_10000_3 2 . -1 -1 . -1 . . . . . . . chr3 149469981 149470516 COMMD2 S chr3_150455052_150455478_11000_4:chr3_150455771_150456046_10000_3:chr3_150457348_150457526_11000_1:chr3_150457765_150457979_11000_1:chr3_150458553_150458902_10000_4 5 . -1 -1 . -1 . . . . . . . chr3 149527606 149527898 RNF13 F chr3_149530045_149530537_10000_2 1 . -1 -1 . -1 . . . . . . . chr3 149530238 149531421 RNF13 S chr3_150457348_150457526_11000_1:chr3_150457765_150457979_11000_1:chr3_150458553_150458902_10000_4 3 . -1 -1 . -1 . . . . . . . chr3 149533104 149533741 RNF13 F chr3_149530045_149530537_10000_2:chr3_149531101_149531258_11000_1:chr3_149531762_149531951_11000_1 3 . -1 -1 . -1 . . . . . . . chr3 149687029 149687285 PFN2 S chr3_150457348_150457526_11000_1:chr3_150457765_150457979_11000_1:chr3_150458553_150458902_10000_4 3 . -1 -1 . -1 . . . . . . . chr3 150125889 150128322 TSC22D2 S chr3_150457348_150457526_11000_1:chr3_150457765_150457979_11000_1:chr3_150458553_150458902_10000_4 3 . -1 -1 . -1 . . . . . . . chr3 150320693 150321948 SERP1 S chr3_150457348_150457526_11000_1:chr3_150457765_150457979_11000_1:chr3_150458553_150458902_10000_4 3 . -1 -1 . -1 . . . . . . . chr3 150454800 150457007 COMMD2 S chr3_149470216_149470516_11100_2 1 . -1 -1 . -1 . . . . . . . chr3 150457243 150458902 COMMD2 S chr3_149470216_149470516_11100_2 1 . -1 -1 . -1 . . . . . . . chr3 150457243 150458902 RNF13 S chr3_149530238_149530537_10000_2:chr3_149531101_149531258_11000_1 2 . -1 -1 . -1 . . . . . . . chr3 150457243 150458902 SERP1 S chr3_150320859_150321074_11100_2 1 . -1 -1 . -1 . . . . . . . chr3 150457243 150458902 SIAH2 S chr3_150480862_150481031_11101_2:chr3_150481275_150481453_11101_1:chr3_150481694_150481949_11000_1 3 . -1 -1 . -1 . . . . . . . chr3 150457243 150458902 TSC22D2 S chr3_150125957_150126067_10101_1 1 . -1 -1 . -1 . . . . . . . chr3 150478267 150478712 SIAH2 F chr3_150480862_150481031_11101_2:chr3_150481275_150481453_11101_1:chr3_150481694_150481763_11000_1 3 . -1 -1 . -1 . . . . . . . chr3 150478289 150481763 SIAH2 F chr3_150477967_150478086_11000_1 1 . -1 -1 . -1 . . . . . . . chr3 150479603 150479973 SIAH2 S chr3_150457348_150457526_11000_1:chr3_150457765_150457979_11000_1:chr3_150458553_150458902_10000_4 3 . -1 -1 . -1 . . . . . . . chr3 150480604 150482015 SIAH2 S chr3_150457348_150457526_11000_1:chr3_150457765_150457979_11000_1:chr3_150458553_150458902_10000_4 3 . -1 -1 . -1 . . . . . . . chr3 152878171 152878732 RAP2B F chr3_152879085_152879275_11100_1:chr3_152879878_152880047_11100_2 2 . -1 -1 . -1 . . . . . . . chr3 156252853 156253400 TIPARP S chr3_156391896_156392816_11100_3 1 . -1 -1 . -1 . . . . . . . chr3 156391771 156393145 TIPARP S chr3_156252956_156253245_11000_2:chr3_156838370_156838671_11000_3 2 . -1 -1 . -1 . . . . . . . chr3 156799771 156799863 ENSG00000241544 S chr3_156252956_156253245_11000_2 1 . -1 -1 . -1 . . . . . . . chr3 156837894 156838823 CCNL1 S chr3_156876995_156877271_11101_3:chr3_156877952_156878094_11101_1:chr3_156878469_156878722_11101_2 3 . -1 -1 . -1 . . . . . . . chr3 156837894 156838823 TIPARP S chr3_156391896_156392816_11100_3 1 . -1 -1 . -1 . . . . . . . chr3 156853519 156853600 CCNL1 S chr3_156876995_156877271_11101_3:chr3_156877952_156878094_11101_1:chr3_156878469_156878722_11101_2 3 . -1 -1 . -1 . . . . . . . chr3 156853519 156853600 TIPARP S chr3_156391896_156392816_11100_3 1 . -1 -1 . -1 . . . . . . . chr3 156876995 156878812 CCNL1 S chr3_156838370_156838671_11000_3 1 . -1 -1 . -1 . . . . . . . chr3 165557542 165557875 BCHE F chr3_165555153_165555302_11100_2:chr3_165556748_165557011_10000_1 2 . -1 -1 . -1 . . . . . . . chr3 169751384 169751667 GPR160 F chr3_169755910_169756076_11000_1 1 . -1 -1 . -1 . . . . . . . chr3 170073951 170075973 SKIL F chr3_170074404_170074611_11000_1 1 . -1 -1 . -1 . . . . . . . chr3 170073951 170077911 SKIL F chr3_170074404_170074611_11000_1 1 . -1 -1 . -1 . . . . . . . chr3 170073991 170074311 SKIL F chr3_170074404_170075507_11000_1:chr3_170074404_170075507_11000_1:chr3_170076044_170076396_10000_2 3 . -1 -1 . -1 . . . . . . . chr3 171175851 171176236 TNIK F chr3_171178203_171178470_11000_1 1 . -1 -1 . -1 . . . . . . . chr3 171176900 171177208 TNIK F chr3_171178203_171178470_11000_1 1 . -1 -1 . -1 . . . . . . . chr3 171529898 171530084 PLD1 F chr3_171529065_171529546_11101_3 1 . -1 -1 . -1 . . . . . . . chr3 171531632 171532210 PLD1 F chr3_171529065_171529546_11101_3 1 . -1 -1 . -1 . . . . . . . chr3 171558292 171560167 NCEH1 S chr3_172428484_172428677_10000_1:chr3_172428914_172429089_10000_1 2 . -1 -1 . -1 . . . . . . . chr3 171857600 171859400 NCEH1 S chr3_172428484_172428677_10000_1:chr3_172428914_172429089_10000_1 2 . -1 -1 . -1 . . . . . . . chr3 172428484 172429195 NCEH1 S chr3_171558337_171558552_10000_1:chr3_171559051_171559328_11100_4:chr3_171858258_171858590_11001_4 3 . -1 -1 . -1 . . . . . . . chr3 178787910 178788066 ZMAT3 F chr3_178789555_178789715_11000_1 1 . -1 -1 . -1 . . . . . . . chr3 183186800 183187235 PARL S chr3_183602593_183602755_11101_2 1 . -1 -1 . -1 . . . . . . . chr3 183187408 183187555 PARL S chr3_183602593_183602755_11101_2 1 . -1 -1 . -1 . . . . . . . chr3 183978750 183980609 CAMK2N2 F chr3_183980416_183980631_11100_1 1 . -1 -1 . -1 . . . . . . . chr3 183980250 183980567 CAMK2N2 F chr3_183979400_183979512_10100_1:chr3_183980416_183980609_11100_1 2 . -1 -1 . -1 . . . . . . . chr3 185513919 185514318 AHSG S chr3_186332730_186332851_10000_1 1 . -1 -1 . -1 . . . . . . . chr3 185514440 185515213 AHSG S chr3_186332730_186332851_10000_1 1 . -1 -1 . -1 . . . . . . . chr3 186332418 186332937 AHSG S chr3_185514440_185514686_10000_2 1 . -1 -1 . -1 . . . . . . . chr3 187004225 187004672 BCL6 S chr3_187456744_187456910_11101_2 1 . -1 -1 . -1 . . . . . . . chr3 187011848 187012020 MASP1 F chr3_187009461_187010301_11101_2 1 . -1 -1 . -1 . . . . . . . chr3 187453784 187458226 BCL6 F chr3_187457381_187457625_11101_1 1 . -1 -1 . -1 . . . . . . . chr3 187456744 187456957 BCL6 S chr3_187004337_187004672_11101_4:chr3_187715773_187716062_11101_3:chr3_187754230_187754400_11000_4:chr3_188014594_188015128_11101_4 4 . -1 -1 . -1 . . . . . . . chr3 187457681 187458370 BCL6 F chr3_187453784_187453891_11101_2:chr3_187454283_187454448_11100_1:chr3_187455670_187455895_11100_1:chr3_187456513_187456910_11101_2:chr3_187457225_187457625_11101_1 5 . -1 -1 . -1 . . . . . . . chr3 187459266 187464013 BCL6 F chr3_187459388_187459565_11101_3 1 . -1 -1 . -1 . . . . . . . chr3 187459288 187459644 BCL6 F chr3_187459388_187459565_11101_3:chr3_187459989_187460127_11101_1:chr3_187461288_187461463_10000_1:chr3_187463089_187463656_11101_2:chr3_187463907_187464013_11001_1 5 . -1 -1 . -1 . . . . . . . chr3 187459973 187460165 BCL6 S chr3_187715773_187716062_11101_3:chr3_187754230_187754400_11000_4:chr3_188014594_188015128_11101_4 3 . -1 -1 . -1 . . . . . . . chr3 187715324 187716512 BCL6 S chr3_187456744_187456910_11101_2:chr3_187459989_187460127_11101_1 2 . -1 -1 . -1 . . . . . . . chr3 187715324 187716512 ENSG00000225058 S chr3_187720524_187720785_11000_2:chr3_187721046_187721393_11000_2 2 . -1 -1 . -1 . . . . . . . chr3 187720402 187722123 ENSG00000225058 S chr3_187715773_187716062_11101_3:chr3_187754230_187754400_11000_4 2 . -1 -1 . -1 . . . . . . . chr3 187754087 187754400 BCL6 S chr3_187456744_187456910_11101_2:chr3_187459989_187460127_11101_1 2 . -1 -1 . -1 . . . . . . . chr3 187754087 187754400 ENSG00000225058 S chr3_187720524_187720785_11000_2:chr3_187721046_187721393_11000_2 2 . -1 -1 . -1 . . . . . . . chr3 187923829 187923958 BCL6 S chr3_187456744_187456910_11101_2:chr3_187459989_187460127_11101_1 2 . -1 -1 . -1 . . . . . . . chr3 188014403 188015311 BCL6 S chr3_187456744_187456910_11101_2:chr3_187459989_187460127_11101_1 2 . -1 -1 . -1 . . . . . . . chr3 193851636 193853009 HES1 F chr3_193852620_193853001_10101_2:chr3_193853628_193853963_10101_2 2 . -1 -1 . -1 . . . . . . . chr3 193852122 193854431 HES1 F chr3_193852620_193853001_10101_2 1 . -1 -1 . -1 . . . . . . . chr3 193853430 193857662 HES1 F chr3_193857511_193857674_10000_1 1 . -1 -1 . -1 . . . . . . . chr3 193857372 193857551 HES1 F chr3_193853628_193853963_10101_2:chr3_193855418_193855709_10000_3:chr3_193857511_193857662_10000_1 3 . -1 -1 . -1 . . . . . . . chr3 195632847 195636380 TNK2 F chr3_195633176_195633408_10000_3 1 . -1 -1 . -1 . . . . . . . chr3 195632869 195633225 TNK2 F chr3_195633176_195633408_10000_3:chr3_195634755_195634965_10101_2 2 . -1 -1 . -1 . . . . . . . chr3 195633702 195634304 TNK2 F chr3_195634755_195634965_10101_2 1 . -1 -1 . -1 . . . . . . . chr3 195633803 195636380 TNK2 F chr3_195633402_195633408_10000_3 1 . -1 -1 . -1 . . . . . . . chr3 197475923 197478551 FYTTD1 F chr3_197477950_197478534_10000_2 1 . -1 -1 . -1 . . . . . . . chr3 197476123 197478551 FYTTD1 F chr3_197477950_197478534_10000_2 1 . -1 -1 . -1 . . . . . . . chr3 197478210 197478491 FYTTD1 F chr3_197477500_197477677_10101_1:chr3_197477500_197477677_10101_1:chr3_197477950_197478534_10000_2:chr3_197477950_197478534_10000_2 4 . -1 -1 . -1 . . . . . . . chr4 924714 925388 GAK F chr4_925219_925380_10010_1:chr4_926112_926325_10101_2 2 . -1 -1 . -1 . . . . . . . chr4 924851 926674 GAK F chr4_925219_925380_10010_1 1 . -1 -1 . -1 . . . . . . . chr4 2792408 2792850 SH3BP2 F chr4_2792429_2792601_11000_1:chr4_2793282_2793950_11000_1:chr4_2794534_2794708_10111_1 3 . -1 -1 . -1 . . . . . . . chr4 2792429 2795250 SH3BP2 F chr4_2792321_2792601_11000_1 1 . -1 -1 . -1 . . . . . . . chr4 4542716 4543043 STX18 F chr4_4543693_4544219_11111_1 1 . -1 -1 . -1 . . . . . . . chr4 6675116 6676395 ENSG00000170846 S chr4_6919600_6919704_11010_2 1 . -1 -1 . -1 . . . . . . . chr4 6676487 6676654 ENSG00000170846 S chr4_6919600_6919704_11010_2 1 . -1 -1 . -1 . . . . . . . chr4 6690625 6692681 S100P S chr4_6919600_6919704_11010_2 1 . -1 -1 . -1 . . . . . . . chr4 6783987 6785668 KIAA0232 S chr4_6919600_6919704_11010_2 1 . -1 -1 . -1 . . . . . . . chr4 6785099 6785509 KIAA0232 F chr4_6784252_6784443_10101_2 1 . -1 -1 . -1 . . . . . . . chr4 6910670 6913041 TBC1D14 F chr4_6912320_6912559_10000_1 1 . -1 -1 . -1 . . . . . . . chr4 6910994 6913041 TBC1D14 F chr4_6912320_6912559_10000_1 1 . -1 -1 . -1 . . . . . . . chr4 6912106 6912667 TBC1D14 S chr4_6919600_6919704_11010_2 1 . -1 -1 . -1 . . . . . . . chr4 6912537 6913143 TBC1D14 F chr4_6912320_6912559_10000_1:chr4_6912320_6912559_10000_1 2 . -1 -1 . -1 . . . . . . . chr4 6919600 6919983 KIAA0232 S chr4_6784252_6784443_10101_2 1 . -1 -1 . -1 . . . . . . . chr4 6919600 6919983 S100P S chr4_6690936_6691107_10000_2 1 . -1 -1 . -1 . . . . . . . chr4 6919600 6919983 TBC1D14 S chr4_6912320_6912559_10000_1 1 . -1 -1 . -1 . . . . . . . chr4 6989470 6989868 TBC1D14 F chr4_6988595_6989006_11101_3 1 . -1 -1 . -1 . . . . . . . chr4 10025962 10026238 SLC2A9 F chr4_10023034_10023276_11111_2 1 . -1 -1 . -1 . . . . . . . chr4 10116801 10117310 WDR1 F chr4_10118429_10118539_10000_1 1 . -1 -1 . -1 . . . . . . . chr4 15682851 15684539 FAM200B F chr4_15684127_15684249_10000_1 1 . -1 -1 . -1 . . . . . . . chr4 15684115 15684561 FAM200B F chr4_15683253_15683409_11000_1:chr4_15684127_15684249_10000_1 2 . -1 -1 . -1 . . . . . . . chr4 15781600 15782008 CD38 F chr4_15781087_15781278_11000_2 1 . -1 -1 . -1 . . . . . . . chr4 15783348 15783685 CD38 F chr4_15781087_15781278_11000_2 1 . -1 -1 . -1 . . . . . . . chr4 15783833 15784027 CD38 F chr4_15781087_15781278_11000_2 1 . -1 -1 . -1 . . . . . . . chr4 17578426 17582297 LAP3 F chr4_17581993_17582200_10100_2 1 . -1 -1 . -1 . . . . . . . chr4 17581888 17582305 LAP3 F chr4_17578499_17578776_10100_3:chr4_17579012_17579169_10100_1:chr4_17580879_17581031_10000_1:chr4_17581993_17582200_10100_2 4 . -1 -1 . -1 . . . . . . . chr4 24913601 24915100 CCDC149 F chr4_24914082_24914232_11111_1 1 . -1 -1 . -1 . . . . . . . chr4 24913671 24913932 CCDC149 F chr4_24914082_24914278_11111_1 1 . -1 -1 . -1 . . . . . . . chr4 37894100 37894434 TBC1D1 F chr4_37893302_37893473_10100_2 1 . -1 -1 . -1 . . . . . . . chr4 38664467 38664838 KLF3 F chr4_38665176_38665338_11100_3:chr4_38665683_38665865_11110_2 2 . -1 -1 . -1 . . . . . . . chr4 38664906 38666290 KLF3 F chr4_38665176_38665338_11100_3 1 . -1 -1 . -1 . . . . . . . chr4 38665008 38665204 KLF3 F chr4_38665176_38665338_11100_3:chr4_38665683_38665865_11110_2 2 . -1 -1 . -1 . . . . . . . chr4 38665289 38669099 KLF3 F chr4_38668902_38669178_11110_4 1 . -1 -1 . -1 . . . . . . . chr4 38668617 38669179 KLF3 F chr4_38665289_38665338_11100_3:chr4_38665683_38665865_11110_2:chr4_38668902_38669099_11110_4 3 . -1 -1 . -1 . . . . . . . chr4 38675200 38675600 KLB S chr4_39408410_39408694_11010_3 1 . -1 -1 . -1 . . . . . . . chr4 38675200 38675600 LIAS S chr4_39460458_39460712_11111_3 1 . -1 -1 . -1 . . . . . . . chr4 38857937 38859649 TLR6 F chr4_38859609_38859735_11000_1 1 . -1 -1 . -1 . . . . . . . chr4 38859134 38859762 TLR6 F chr4_38859609_38859649_11000_1 1 . -1 -1 . -1 . . . . . . . chr4 38870386 38870769 FAM114A1 F chr4_38869326_38869445_11101_1:chr4_38869908_38870045_11100_1 2 . -1 -1 . -1 . . . . . . . chr4 38874164 38875132 LIAS S chr4_39460458_39460712_11111_3 1 . -1 -1 . -1 . . . . . . . chr4 39408307 39408749 KLB S chr4_38675200_38675531_11111_4 1 . -1 -1 . -1 . . . . . . . chr4 39459887 39461564 LIAS S chr4_38675200_38675531_11111_4:chr4_38874263_38874597_11101_3 2 . -1 -1 . -1 . . . . . . . chr4 39638348 39640981 C4orf34 F chr4_39638499_39638919_11000_2 1 . -1 -1 . -1 . . . . . . . chr4 39638477 39638619 C4orf34 F chr4_39638499_39638951_11000_2:chr4_39640466_39640981_11010_4 2 . -1 -1 . -1 . . . . . . . chr4 40057101 40059024 N4BP2 F chr4_40057417_40057710_11111_1 1 . -1 -1 . -1 . . . . . . . chr4 40057110 40057493 N4BP2 F chr4_40057417_40057710_11111_1 1 . -1 -1 . -1 . . . . . . . chr4 41178913 41179293 APBB2 S chr4_41214764_41214909_11000_2 1 . -1 -1 . -1 . . . . . . . chr4 41936117 41937637 TMEM33 F chr4_41936157_41936741_11010_2 1 . -1 -1 . -1 . . . . . . . chr4 41936193 41936441 TMEM33 F chr4_41936157_41936765_11010_2:chr4_41937066_41937271_11100_2 2 . -1 -1 . -1 . . . . . . . chr4 44727575 44727855 GNPDA2 F chr4_44728558_44728705_11111_1 1 . -1 -1 . -1 . . . . . . . chr4 54929171 54929915 CHIC2 F chr4_54930613_54930880_10000_2 1 . -1 -1 . -1 . . . . . . . chr4 55094763 55097699 PDGFRA F chr4_55097399_55097610_11010_1 1 . -1 -1 . -1 . . . . . . . chr4 55097338 55097659 PDGFRA F chr4_55097399_55097610_11010_1 1 . -1 -1 . -1 . . . . . . . chr4 69215139 69216075 YTHDC1 S chr4_69817400_69817560_00000_4 1 . -1 -1 . -1 . . . . . . . chr4 69813787 69818009 UGT2A3 F chr4_69813870_69814328_00000_3 1 . -1 -1 . -1 . . . . . . . chr4 69813796 69814179 UGT2A3 F chr4_69813870_69814328_00000_3:chr4_69814805_69814943_00000_1:chr4_69815810_69816014_00000_1:chr4_69817217_69817560_00000_4 4 . -1 -1 . -1 . . . . . . . chr4 69817192 69817400 UGT2A3 S chr4_69817400_69817560_00000_4 1 . -1 -1 . -1 . . . . . . . chr4 69817400 69818041 UGT2A3 S chr4_69817217_69817400_00000_4 1 . -1 -1 . -1 . . . . . . . chr4 69817400 69818041 YTHDC1 S chr4_69215681_69216075_11111_3 1 . -1 -1 . -1 . . . . . . . chr4 70625051 70626930 SULT1B1 F chr4_70624886_70625199_10000_1 1 . -1 -1 . -1 . . . . . . . chr4 70625186 70625316 SULT1B1 F chr4_70625051_70625199_10000_1:chr4_70626195_70626522_10000_3 2 . -1 -1 . -1 . . . . . . . chr4 71861834 71861975 DCK F chr4_71859035_71859231_11101_1 1 . -1 -1 . -1 . . . . . . . chr4 74961836 74965497 CXCL2 F chr4_74961652_74961784_10000_1:chr4_74962066_74962421_10000_1 2 . -1 -1 . -1 . . . . . . . chr4 74961952 74962121 CXCL2 F chr4_74962066_74962430_10000_1:chr4_74962978_74963115_10000_1:chr4_74963438_74964035_10000_2:chr4_74964811_74965231_10000_3 4 . -1 -1 . -1 . . . . . . . chr4 77869398 77869850 SEPT11 F chr4_77869926_77870176_11100_2:chr4_77870828_77870979_10100_1 2 . -1 -1 . -1 . . . . . . . chr4 77869424 77871395 SEPT11 F chr4_77869926_77870150_11100_2 1 . -1 -1 . -1 . . . . . . . chr4 78742995 78743215 CNOT6L F chr4_78740220_78740330_10000_1:chr4_78741287_78741453_11000_1:chr4_78742097_78742602_11000_2 3 . -1 -1 . -1 . . . . . . . chr4 78977894 78978171 FRAS1 F chr4_78979120_78979224_11000_1 1 . -1 -1 . -1 . . . . . . . chr4 80991308 80991698 ANTXR2 F chr4_80992184_80992363_11000_2:chr4_80994113_80994426_11000_1 2 . -1 -1 . -1 . . . . . . . chr4 80997440 80997711 ANTXR2 F chr4_80994113_80994426_11000_1 1 . -1 -1 . -1 . . . . . . . chr4 81101972 81102294 PRDM8 F chr4_81102613_81102803_10000_1 1 . -1 -1 . -1 . . . . . . . chr4 82394038 82394320 RASGEF1B F chr4_82392948_82393102_11101_1:chr4_82393509_82393672_11001_1 2 . -1 -1 . -1 . . . . . . . chr4 88310034 88312955 HSD17B11 F chr4_88310125_88310329_10000_1 1 . -1 -1 . -1 . . . . . . . chr4 88310144 88310324 HSD17B11 F chr4_88310125_88310329_10000_1:chr4_88312271_88312685_11101_3 2 . -1 -1 . -1 . . . . . . . chr4 88446928 88451155 SPARCL1 F chr4_88446819_88446954_11000_1 1 . -1 -1 . -1 . . . . . . . chr4 88446974 88447282 SPARCL1 F chr4_88446928_88446954_11000_1:chr4_88449136_88449415_11000_2 2 . -1 -1 . -1 . . . . . . . chr4 89302401 89302730 HERC6 F chr4_89300458_89300629_11000_1 1 . -1 -1 . -1 . . . . . . . chr4 89377199 89378768 HERC5 F chr4_89377585_89377709_10000_1 1 . -1 -1 . -1 . . . . . . . chr4 89377235 89377564 HERC5 F chr4_89377585_89377709_10000_1:chr4_89377968_89378205_10000_3 2 . -1 -1 . -1 . . . . . . . chr4 90224802 90225147 GPRIN3 F chr4_90227491_90227609_10100_1 1 . -1 -1 . -1 . . . . . . . chr4 90226723 90227111 GPRIN3 F chr4_90227491_90227609_10100_1 1 . -1 -1 . -1 . . . . . . . chr4 95259956 95260212 HPGDS F chr4_95262687_95262908_11000_1 1 . -1 -1 . -1 . . . . . . . chr4 95372537 95374181 PDLIM5 F chr4_95373855_95374030_11101_1 1 . -1 -1 . -1 . . . . . . . chr4 95373822 95374139 PDLIM5 F chr4_95372537_95372664_10101_1:chr4_95372915_95373147_11101_1:chr4_95373855_95374030_11101_1 3 . -1 -1 . -1 . . . . . . . chr4 99853675 99854028 EIF4E F chr4_99850088_99850451_11000_3 1 . -1 -1 . -1 . . . . . . . chr4 100065400 100065616 DNAJB14 S chr4_100870237_100870477_11000_1:chr4_100871666_100871776_11000_1 2 chr4 100065509 100065510 CR994658 - 3 FP rs1800759 ADH4 Increased transcription CTGTGAATTACAGCAACAAAGGAGAAAAGG[C/A]AGTGATTGGAGAATTAAGCAACATGAATGG 10208639 chr4 100272506 100274417 ADH1C F chr4_100272728_100272927_10000_2 1 chr4 100274157 100274158 CR096499 - 3 DFP rs4147541 ADH1C Reduced alcohol metabolism: association with CCTGTGGGTTTGAGAGAAGAGAAGCAGGAA[G/C]TTGAGAGAGGAGGAAGAGAGAAAGTAATTA 19618839 chr4 100272506 100274417 ADH1C F chr4_100272728_100272927_10000_2 1 chr4 100274286 100274287 CR135035 - 3 DP rs1789924 ADH1C Gastric adenocarcinoma: increased risk TTGTTTATCCAATTTCCCTACTCCTCCTTC[G/A]TAACTGCACCATGTGGATTCAAAATTGCAG 23430453 chr4 100272514 100272898 ADH1C F chr4_100272728_100272927_10000_2:chr4_100273772_100273971_10000_2 2 . -1 -1 . -1 . . . . . . . chr4 100870237 100872114 DNAJB14 S chr4_100065405_100065616_11001_4 1 . -1 -1 . -1 . . . . . . . chr4 103679962 103680312 MANBA F chr4_103681568_103681671_10100_1:chr4_103682542_103682651_10100_1 2 . -1 -1 . -1 . . . . . . . chr4 103750426 103750532 UBE2D3 F chr4_103748986_103749550_11000_3:chr4_103748986_103749550_11000_3:chr4_103748986_103749550_11000_3 3 . -1 -1 . -1 . . . . . . . chr4 106066531 106071354 TET2 F chr4_106070973_106071214_11000_2 1 . -1 -1 . -1 . . . . . . . chr4 106067341 106071354 TET2 F chr4_106070973_106071214_11000_2 1 . -1 -1 . -1 . . . . . . . chr4 106071010 106071297 TET2 F chr4_106067941_106068068_11101_1:chr4_106067941_106068068_11101_1:chr4_106070973_106071214_11000_2:chr4_106070973_106071214_11000_2 4 . -1 -1 . -1 . . . . . . . chr4 113066052 113067783 C4orf32 F chr4_113067415_113067585_10000_1 1 . -1 -1 . -1 . . . . . . . chr4 113067380 113067784 C4orf32 F chr4_113067415_113067585_10000_1 1 . -1 -1 . -1 . . . . . . . chr4 113208724 113209105 TIFA F chr4_113206934_113207154_11000_3:chr4_113207571_113207757_11000_2 2 . -1 -1 . -1 . . . . . . . chr4 113209682 113209927 TIFA F chr4_113206934_113207154_11000_3:chr4_113207571_113207757_11000_2 2 . -1 -1 . -1 . . . . . . . chr4 123751494 123751575 FGF2 F chr4_123749121_123749331_10000_1 1 . -1 -1 . -1 . . . . . . . chr4 130012970 130013118 C4orf33 F chr4_130014376_130014923_11111_3 1 . -1 -1 . -1 . . . . . . . chr4 130012970 130013118 SCLT1 F chr4_130014376_130014923_11111_3 1 . -1 -1 . -1 . . . . . . . chr4 140003738 140004448 ELF2 F chr4_140003893_140004261_11000_3 1 . -1 -1 . -1 . . . . . . . chr4 140003893 140006147 ELF2 F chr4_140003851_140004261_11000_3 1 . -1 -1 . -1 . . . . . . . chr4 141071687 141072625 MAML3 F chr4_141072212_141072457_10110_1:chr4_141075250_141075485_10100_2 2 . -1 -1 . -1 . . . . . . . chr4 141071956 141075733 MAML3 F chr4_141072212_141072457_10110_1 1 . -1 -1 . -1 . . . . . . . chr4 141077775 141077952 MAML3 F chr4_141075250_141075485_10100_2 1 . -1 -1 . -1 . . . . . . . chr4 142559455 142559780 IL15 F chr4_142557680_142557790_10000_1 1 . -1 -1 . -1 . . . . . . . chr4 146098272 146098411 OTUD4 F chr4_146100418_146100902_11010_2 1 . -1 -1 . -1 . . . . . . . chr4 149364278 149364693 NR3C2 F chr4_149363579_149363824_11111_2 1 . -1 -1 . -1 . . . . . . . chr4 153599369 153601817 TMEM154 F chr4_153599471_153599593_10000_1 1 . -1 -1 . -1 . . . . . . . chr4 153599392 153599746 TMEM154 F chr4_153599471_153599593_10000_1:chr4_153601172_153601308_11111_1 2 . -1 -1 . -1 . . . . . . . chr4 154269495 154269528 MND1 F chr4_154266383_154266612_11000_3 1 . -1 -1 . -1 . . . . . . . chr4 155480773 155482501 FGA S chr4_155511917_155512194_11111_4 1 . -1 -1 . -1 . . . . . . . chr4 155511659 155512194 FGA S chr4_155480773_155480868_11111_1:chr4_155481260_155481608_11111_4:chr4_155481883_155482320_11111_4 3 chr4 155511783 155511784 CS001834 - 2 DM NULL FGA Afibrinogenaemia GGTCCTAAGTGTGGTGGGCACAGCATGGgt[A/G]tggcccttttcattttttcttcttgctttc 10891444 chr4 155511659 155512194 FGA S chr4_155480773_155480868_11111_1:chr4_155481260_155481608_11111_4:chr4_155481883_155482320_11111_4 3 chr4 155511783 155511784 CS124804 - 2 DM NULL FGA Afibrinogenaemia GGTCCTAAGTGTGGTGGGCACAGCATGGgt[A/C]tggcccttttcattttttcttcttgctttc 22639050 chr4 155511659 155512194 FGA S chr4_155480773_155480868_11111_1:chr4_155481260_155481608_11111_4:chr4_155481883_155482320_11111_4 3 chr4 155511785 155511786 CS055585 - 2 DM rs111585272 FGA Afibrinogenaemia CTGGTCCTAAGTGTGGTGGGCACAGCATGG[G/A]tatggcccttttcattttttcttcttgctt 16241964 chr4 155511659 155512194 FGA S chr4_155480773_155480868_11111_1:chr4_155481260_155481608_11111_4:chr4_155481883_155482320_11111_4 3 chr4 155511835 155511836 CI001937 - 6 DM NULL FGA Afibrinogenaemia AGGAGCCAGCCCCACCCTTAGAAAAGATGT[-/C]TTTCCATGAGGATCGTCTGCCTGGTCCTAA 10891444 chr4 155511659 155512194 FGA S chr4_155480773_155480868_11111_1:chr4_155481260_155481608_11111_4:chr4_155481883_155482320_11111_4 3 chr4 155511839 155511840 CM1212650 - 1 DM NULL FGA Afibrinogenaemia cctcaggagccagccccacccttagaaaag[A/T]TGTTTTCCATGAGGATCGTCTGCCTGGTCC 22732251 chr4 155511659 155512194 FGA S chr4_155480773_155480868_11111_1:chr4_155481260_155481608_11111_4:chr4_155481883_155482320_11111_4 3 chr4 155511897 155511898 CR066662 - 3 DFP rs2070011 FGA Venous thromboembolism: susceptibility: association with GATTTAAATAGGATGGGAACTAGGAGTGGC[G/A]GCAATCCTTTCTTTCAGCTGGAGTGCTCCT 16362348 chr4 155533401 155536802 FGG F chr4_155536658_155536821_11000_1 1 chr4 155533542 155533543 CS002448 - 2 DM NULL FGG Hypofibrinogenaemia GACAACTGCTGCATCTTAGATGAAAGATTC[G/A]taagtagtttttatgtttctccctttgtgt 11019970 chr4 155533401 155536802 FGG F chr4_155536658_155536821_11000_1 1 chr4 155533568 155533569 CD011167 - 5 DM NULL FGG Afibrinogenaemia TTCTCTTTTAGTATGTTGCTACCAGAGACA[A/-]CTGCTGCATCTTAGATGAAAGATTCGTAAG 11354637 chr4 155533401 155536802 FGG F chr4_155536658_155536821_11000_1 1 chr4 155533679 155533680 CS002666 - 2 DM NULL FGG Afibrinogenaemia TATTTCTCTCTTCAACATGTGTAGCAgtaa[G/A]tgtgctcttcacaaaacgttgtttaaaatg 11001902 chr4 155536532 155536671 FGG F chr4_155533744_155534190_11000_4:chr4_155534819_155535021_11000_1:chr4_155535993_155536145_11000_1:chr4_155536658_155536802_11000_1 4 . -1 -1 . -1 . . . . . . . chr4 157889828 157890031 PDGFC F chr4_157891398_157891561_10000_1:chr4_157892059_157893046_11101_4 2 . -1 -1 . -1 . . . . . . . chr4 159130594 159130739 TMEM144 F chr4_159131814_159131901_10000_1 1 . -1 -1 . -1 . . . . . . . chr4 159643443 159643599 PPID F chr4_159644038_159644645_11111_2 1 . -1 -1 . -1 . . . . . . . chr4 160188497 160191457 RAPGEF2 F chr4_160191045_160191165_10000_1 1 . -1 -1 . -1 . . . . . . . chr4 160191202 160191310 RAPGEF2 F chr4_160188543_160188760_10000_1:chr4_160189788_160189978_10000_1:chr4_160191045_160191165_10000_1 3 . -1 -1 . -1 . . . . . . . chr4 164085826 164086168 NAF1 F chr4_164087978_164088179_11100_3 1 . -1 -1 . -1 . . . . . . . chr4 170193381 170193745 SH3RF1 F chr4_170191748_170191757_11101_1:chr4_170192080_170192337_11101_1 2 . -1 -1 . -1 . . . . . . . chr4 170543360 170543629 CLCN3 F chr4_170541281_170541837_11101_3 1 . -1 -1 . -1 . . . . . . . chr4 175440867 175440935 HPGD F chr4_175441864_175442035_10000_2:chr4_175443711_175444292_11100_1 2 . -1 -1 . -1 . . . . . . . chr4 185393528 185396226 IRF2 F chr4_185393261_185393369_11010_2:chr4_185394028_185394195_10010_2 2 chr4 185396170 185396171 CR015895 - 3 DP NULL IRF2 Atopic dermatitis: association with GCCCTGCTAACTGGATGGTCGCAGCCCCGT[G/A]CCTTCGCCGGACGCCCTCCTGGAACCTTCA 11721886 chr4 185393561 185393895 IRF2 F chr4_185394028_185394389_10010_2:chr4_185395739_185395999_11010_4 2 . -1 -1 . -1 . . . . . . . chr5 190596 192126 LRRC14B F chr5_191154_191201_10000_2 1 . -1 -1 . -1 . . . . . . . chr5 190691 190901 LRRC14B F chr5_191154_191329_10000_2 1 . -1 -1 . -1 . . . . . . . chr5 692381 692722 TPPP F chr5_693645_693780_10000_1 1 . -1 -1 . -1 . . . . . . . chr5 1108932 1112672 SLC12A7 F chr5_1108616_1108726_11101_1 1 . -1 -1 . -1 . . . . . . . chr5 5423578 5423857 KIAA0947 F chr5_5422306_5422679_11000_2 1 . -1 -1 . -1 . . . . . . . chr5 9544457 9546733 SEMA5A F chr5_9544628_9544742_11000_1 1 . -1 -1 . -1 . . . . . . . chr5 9544480 9544834 SEMA5A F chr5_9544628_9544742_11000_1 1 . -1 -1 . -1 . . . . . . . chr5 14664282 14668781 FAM105B F chr5_14668314_14668709_10101_2 1 . -1 -1 . -1 . . . . . . . chr5 14666216 14666664 FAM105B F chr5_14664484_14664893_10101_1:chr5_14665399_14665711_10101_2 2 . -1 -1 . -1 . . . . . . . chr5 14668408 14668752 FAM105B F chr5_14664484_14664893_10101_1:chr5_14665399_14665711_10101_2:chr5_14668314_14668709_10101_2 3 . -1 -1 . -1 . . . . . . . chr5 32585434 32586465 SUB1 S chr5_32233360_32234000_11000_4 1 . -1 -1 . -1 . . . . . . . chr5 32714238 32714628 NPR3 F chr5_32710242_32710317_10000_1:chr5_32710613_32710912_10110_1 2 . -1 -1 . -1 . . . . . . . chr5 34006520 34007060 AMACR F chr5_34007688_34007917_11000_3:chr5_34008127_34008463_11000_3 2 . -1 -1 . -1 . . . . . . . chr5 34658306 34658537 RAI14 F chr5_34656301_34656527_11101_1:chr5_34656301_34656527_11101_1 2 . -1 -1 . -1 . . . . . . . chr5 36151218 36151404 LMBRD2 F chr5_36151975_36152207_11110_1 1 . -1 -1 . -1 . . . . . . . chr5 36151218 36151404 SKP2 F chr5_36151975_36152207_11110_1 1 . -1 -1 . -1 . . . . . . . chr5 36300848 36302511 RANBP3L F chr5_36301186_36301411_10010_1 1 . -1 -1 . -1 . . . . . . . chr5 36300929 36301168 RANBP3L F chr5_36301186_36301411_10010_1:chr5_36302231_36302453_10001_2 2 . -1 -1 . -1 . . . . . . . chr5 38846956 38846992 OSMR F chr5_38845838_38846138_11011_2:chr5_38845838_38846138_11011_2 2 . -1 -1 . -1 . . . . . . . chr5 39072904 39073873 RICTOR F chr5_39073422_39073656_11111_1:chr5_39074544_39074697_11110_1 2 . -1 -1 . -1 . . . . . . . chr5 39073188 39075001 RICTOR F chr5_39073422_39073656_11111_1 1 . -1 -1 . -1 . . . . . . . chr5 39077105 39077361 RICTOR F chr5_39074544_39074697_11110_1:chr5_39075562_39075744_11000_1 2 . -1 -1 . -1 . . . . . . . chr5 39215442 39215743 FYB F chr5_39218027_39218141_10010_1 1 . -1 -1 . -1 . . . . . . . chr5 40675786 40676209 PTGER4 F chr5_40679952_40680066_10000_1 1 . -1 -1 . -1 . . . . . . . chr5 40682862 40683125 PTGER4 F chr5_40679952_40680066_10000_1 1 . -1 -1 . -1 . . . . . . . chr5 55288370 55289209 IL6ST F chr5_55289652_55289792_10010_1:chr5_55290962_55291210_11010_3 2 . -1 -1 . -1 . . . . . . . chr5 55289597 55291321 IL6ST F chr5_55289652_55289792_10010_1 1 . -1 -1 . -1 . . . . . . . chr5 55289605 55289989 IL6ST F chr5_55289652_55289792_10010_1:chr5_55290962_55291210_11010_3 2 . -1 -1 . -1 . . . . . . . chr5 56468272 56468727 GPBP1 F chr5_56469675_56469897_11111_1:chr5_56469675_56469897_11111_1 2 . -1 -1 . -1 . . . . . . . chr5 60624078 60624207 ZSWIM6 F chr5_60626833_60626969_11000_1 1 . -1 -1 . -1 . . . . . . . chr5 60625710 60626179 ZSWIM6 F chr5_60626833_60626969_11000_1 1 . -1 -1 . -1 . . . . . . . chr5 60626229 60628600 ZSWIM6 F chr5_60626833_60626838_11000_1 1 . -1 -1 . -1 . . . . . . . chr5 60626321 60626538 ZSWIM6 F chr5_60626833_60626969_11000_1 1 . -1 -1 . -1 . . . . . . . chr5 60626678 60627139 ZSWIM6 F chr5_60626833_60626969_11000_1 1 . -1 -1 . -1 . . . . . . . chr5 60626708 60628600 ZSWIM6 F chr5_60626833_60626969_11000_1 1 . -1 -1 . -1 . . . . . . . chr5 75697663 75698026 IQGAP2 F chr5_75698982_75699112_10000_1 1 . -1 -1 . -1 . . . . . . . chr5 77589539 77589820 AP3B1 F chr5_77590358_77590714_11101_2 1 . -1 -1 . -1 . . . . . . . chr5 90678648 90680125 ARRDC3 F chr5_90679535_90679981_11010_3 1 . -1 -1 . -1 . . . . . . . chr5 90679835 90680013 ARRDC3 F chr5_90678845_90679981_11010_3 1 . -1 -1 . -1 . . . . . . . chr5 90680524 90680637 ARRDC3 F chr5_90678845_90679981_11010_3 1 . -1 -1 . -1 . . . . . . . chr5 92914746 92915169 NR2F1 F chr5_92915549_92915713_11000_1 1 . -1 -1 . -1 . . . . . . . chr5 95260523 95260780 ELL2 S chr5_95297657_95298103_11111_2 1 . -1 -1 . -1 . . . . . . . chr5 95294794 95295285 ELL2 F chr5_95297657_95298134_11111_2 1 . -1 -1 . -1 . . . . . . . chr5 95295681 95296335 ELL2 F chr5_95297657_95298134_11111_2 1 . -1 -1 . -1 . . . . . . . chr5 95296400 95298103 ELL2 S chr5_95260523_95260745_11100_3 1 . -1 -1 . -1 . . . . . . . chr5 95297274 95298754 ELL2 F chr5_95298072_95298134_11111_2 1 . -1 -1 . -1 . . . . . . . chr5 95298372 95298734 ELL2 F chr5_95297657_95298134_11111_2 1 . -1 -1 . -1 . . . . . . . chr5 110846985 110847356 STARD4 F chr5_110848391_110848657_11000_3 1 . -1 -1 . -1 . . . . . . . chr5 112628840 112629057 MCC F chr5_112630650_112630761_10000_1 1 . -1 -1 . -1 . . . . . . . chr5 115908516 115909016 SEMA6A F chr5_115910865_115911051_10101_1 1 . -1 -1 . -1 . . . . . . . chr5 115911792 115912152 SEMA6A F chr5_115910865_115911116_10101_1 1 . -1 -1 . -1 . . . . . . . chr5 118605337 118605637 TNFAIP8 F chr5_118604420_118604574_11110_1 1 . -1 -1 . -1 . . . . . . . chr5 122108155 122108524 SNX2 F chr5_122109414_122109565_10000_1:chr5_122109879_122110057_10000_1:chr5_122110704_122110859_11100_1 3 . -1 -1 . -1 . . . . . . . chr5 124077955 124078154 ZNF608 F chr5_124080113_124080319_11111_1 1 . -1 -1 . -1 . . . . . . . chr5 128432436 128432693 ISOC1 F chr5_128429941_128430453_11110_2:chr5_128430772_128431065_11100_2 2 . -1 -1 . -1 . . . . . . . chr5 130970028 130970178 RAPGEF6 F chr5_130970625_130971309_11111_2 1 . -1 -1 . -1 . . . . . . . chr5 131629178 131629624 SLC22A4 F chr5_131629444_131629905_11111_2 1 . -1 -1 . -1 . . . . . . . chr5 131629201 131630645 SLC22A4 F chr5_131629444_131629905_11111_2 1 chr5 131630497 131630498 CM138532 + 1 FP NULL SLC22A4 Reduced transport activity CGGACGCCGCGAACCTGAGCAGCGCCTGGC[G/A]CAACAACAGTGTCCCGCTGCGGCTGCGGGA 23663222 chr5 131629201 131630645 SLC22A4 F chr5_131629444_131629905_11111_2 1 chr5 131630557 131630558 CM138533 + 1 FP NULL SLC22A4 Reduced transport activity ACGGCCGCGAGGTGCCCCACAGCTGCAGCC[G/C]CTACCGGCTCGCCACCATCGCCAACTTCTC 23663222 chr5 131629644 131634366 SLC22A4 F chr5_131634150_131634304_11000_1 1 chr5 131630497 131630498 CM138532 + 1 FP NULL SLC22A4 Reduced transport activity CGGACGCCGCGAACCTGAGCAGCGCCTGGC[G/A]CAACAACAGTGTCCCGCTGCGGCTGCGGGA 23663222 chr5 131629644 131634366 SLC22A4 F chr5_131634150_131634304_11000_1 1 chr5 131630557 131630558 CM138533 + 1 FP NULL SLC22A4 Reduced transport activity ACGGCCGCGAGGTGCCCCACAGCTGCAGCC[G/C]CTACCGGCTCGCCACCATCGCCAACTTCTC 23663222 chr5 131633963 131634368 SLC22A4 F chr5_131629644_131629905_11111_2:chr5_131634150_131634304_11000_1 2 . -1 -1 . -1 . . . . . . . chr5 131828322 131828808 IRF1 F chr5_131826458_131826770_11110_1 1 . -1 -1 . -1 . . . . . . . chr5 131830040 131830170 IRF1 F chr5_131826458_131826770_11110_1 1 . -1 -1 . -1 . . . . . . . chr5 132115740 132115939 SEPT8 F chr5_132113454_132113644_11111_1:chr5_132113454_132113644_11111_1 2 . -1 -1 . -1 . . . . . . . chr5 133332400 133332424 JADE2 S chr5_133861743_133861903_11110_1:chr5_133862526_133862745_11111_1:chr5_133863375_133863573_11111_1 3 . -1 -1 . -1 . . . . . . . chr5 133332518 133333000 JADE2 S chr5_133861743_133861903_11110_1:chr5_133862526_133862745_11111_1:chr5_133863375_133863573_11111_1 3 . -1 -1 . -1 . . . . . . . chr5 134733668 134734080 H2AFY F chr5_134734889_134735202_10101_1 1 . -1 -1 . -1 . . . . . . . chr5 137370531 137370718 FAM13B F chr5_137368368_137368580_11110_1 1 . -1 -1 . -1 . . . . . . . chr5 137799762 137801681 EGR1 F chr5_137799811_137799974_11100_1:chr5_137800263_137800454_11111_1 2 . -1 -1 . -1 . . . . . . . chr5 137799770 137800154 EGR1 F chr5_137799811_137799974_11100_1:chr5_137800263_137800820_11111_1 2 . -1 -1 . -1 . . . . . . . chr5 137800240 137801681 EGR1 F chr5_137800263_137800820_11111_1 1 . -1 -1 . -1 . . . . . . . chr5 137800317 137800564 EGR1 F chr5_137800263_137800820_11111_1 1 . -1 -1 . -1 . . . . . . . chr5 137881069 137881276 ETF1 F chr5_137878748_137879182_11111_1 1 . -1 -1 . -1 . . . . . . . chr5 139031397 139032095 CXXC5 F chr5_139030730_139031013_10000_2 1 . -1 -1 . -1 . . . . . . . chr5 139724210 139724515 HBEGF F chr5_139726259_139726591_11101_2 1 . -1 -1 . -1 . . . . . . . chr5 139933633 139933898 SRA1 F chr5_139936933_139937168_11110_2 1 . -1 -1 . -1 . . . . . . . chr5 140014772 140015494 DIAPH1 S chr5_140998514_140998913_11111_1 1 . -1 -1 . -1 . . . . . . . chr5 140014772 140015494 TMCO6 S chr5_140018688_140018997_11100_4:chr5_140019436_140019675_11100_1 2 . -1 -1 . -1 . . . . . . . chr5 140018418 140019675 TMCO6 S chr5_140943997_140944297_11101_1 1 . -1 -1 . -1 . . . . . . . chr5 140943997 140944297 DIAPH1 S chr5_140998514_140998913_11111_1 1 . -1 -1 . -1 . . . . . . . chr5 140943997 140944297 TMCO6 S chr5_140018688_140018997_11100_4:chr5_140019436_140019675_11100_1 2 . -1 -1 . -1 . . . . . . . chr5 140998044 140999078 DIAPH1 S chr5_140943997_140944297_11101_1 1 . -1 -1 . -1 . . . . . . . chr5 141392363 141392950 GNPDA1 S chr5_141740463_141740711_10000_2 1 . -1 -1 . -1 . . . . . . . chr5 141395225 141395941 GNPDA1 F chr5_141393730_141393921_11000_2:chr5_141394467_141394582_10000_1 2 . -1 -1 . -1 . . . . . . . chr5 141703550 141706264 SPRY4 S chr5_141740463_141740711_10000_2 1 . -1 -1 . -1 . . . . . . . chr5 141739222 141740857 ARHGAP26 S chr5_142149795_142149981_11111_1 1 . -1 -1 . -1 . . . . . . . chr5 141739222 141740857 SPRY4 S chr5_141704519_141704744_11111_2 1 . -1 -1 . -1 . . . . . . . chr5 142149538 142150244 ARHGAP26 S chr5_141740463_141740711_10000_2 1 . -1 -1 . -1 . . . . . . . chr5 142785420 142785784 NR3C1 F chr5_142783226_142783411_11100_1:chr5_142784334_142784462_10100_1 2 . -1 -1 . -1 . . . . . . . chr5 146830882 146830936 DPYSL3 F chr5_146833409_146833603_10000_1 1 . -1 -1 . -1 . . . . . . . chr5 146831561 146831956 DPYSL3 F chr5_146833409_146833603_10000_1 1 . -1 -1 . -1 . . . . . . . chr5 146832241 146832308 DPYSL3 F chr5_146833409_146833603_10000_1 1 . -1 -1 . -1 . . . . . . . chr5 146834939 146835189 DPYSL3 F chr5_146833409_146833603_10000_1 1 . -1 -1 . -1 . . . . . . . chr5 149109314 149111346 PPARGC1B F chr5_149111136_149111755_11111_3 1 chr5 149109479 149109480 CR119830 + 3 DFP rs62382271 PPARGC1B Airway hyperreactivity: in asthma: association with CCGGCCTTCGAACGAGGTCCTATTCCTTCT[C/T]GAGCCTCAGTTTCCCCAGCTGTGCAGAAGA 21692888 chr5 149109314 149112416 PPARGC1B F chr5_149111657_149111788_11111_3:chr5_149112100_149112367_11111_2:chr5_149112513_149112773_11110_2 3 chr5 149109479 149109480 CR119830 + 3 DFP rs62382271 PPARGC1B Airway hyperreactivity: in asthma: association with CCGGCCTTCGAACGAGGTCCTATTCCTTCT[C/T]GAGCCTCAGTTTCCCCAGCTGTGCAGAAGA 21692888 chr5 149110531 149110757 PPARGC1B F chr5_149109793_149109921_11111_1 1 . -1 -1 . -1 . . . . . . . chr5 149110836 149111455 PPARGC1B F chr5_149109793_149109921_11111_1:chr5_149111136_149111346_11111_3 2 . -1 -1 . -1 . . . . . . . chr5 149111957 149112473 PPARGC1B F chr5_149109793_149109921_11111_1:chr5_149111136_149111788_11111_3:chr5_149112100_149112367_11111_2 3 . -1 -1 . -1 . . . . . . . chr5 149312025 149312442 NDST1 S chr5_149867329_149867637_10101_3 1 . -1 -1 . -1 . . . . . . . chr5 149339062 149339484 SLC26A2 F chr5_149340231_149340376_10100_1 1 . -1 -1 . -1 . . . . . . . chr5 149540983 149541307 NDST1 S chr5_149867329_149867637_10101_3 1 . -1 -1 . -1 . . . . . . . chr5 149828463 149829800 RPS14 S chr5_149921506_149921866_10001_3:chr5_149922519_149922974_11111_4 2 . -1 -1 . -1 . . . . . . . chr5 149867329 149867714 NDST1 S chr5_149901989_149902583_11000_4 1 . -1 -1 . -1 . . . . . . . chr5 149901800 149903152 NDST1 S chr5_149867329_149867637_10101_3 1 . -1 -1 . -1 . . . . . . . chr5 149921242 149923269 GPX3 S chr5_150399849_150400064_11010_2 1 . -1 -1 . -1 . . . . . . . chr5 150399849 150400552 GPX3 S chr5_149921506_149921866_10001_3:chr5_149922519_149922974_11111_4 2 . -1 -1 . -1 . . . . . . . chr5 150401918 150402484 GPX3 F chr5_150399831_150400064_11010_2 1 . -1 -1 . -1 . . . . . . . chr5 150461516 150462400 TNIP1 F chr5_150460564_150460789_11000_2 1 . -1 -1 . -1 . . . . . . . chr5 150462985 150463261 TNIP1 F chr5_150460564_150460789_11000_2 1 . -1 -1 . -1 . . . . . . . chr5 150535996 150537943 ANXA6 F chr5_150535788_150536335_10110_2 1 . -1 -1 . -1 . . . . . . . chr5 150536063 150536329 ANXA6 F chr5_150535996_150536335_10110_2:chr5_150537254_150537832_10111_1 2 . -1 -1 . -1 . . . . . . . chr5 156698884 156699173 CYFIP2 F chr5_156696469_156696658_10101_1 1 . -1 -1 . -1 . . . . . . . chr5 156700202 156700407 CYFIP2 F chr5_156696469_156696658_10101_1 1 . -1 -1 . -1 . . . . . . . chr5 157156902 157157206 THG1L F chr5_157158331_157158458_11101_1 1 . -1 -1 . -1 . . . . . . . chr5 171879589 171880295 SH3PXD2B F chr5_171881673_171881879_10010_1 1 . -1 -1 . -1 . . . . . . . chr5 171882832 171882998 SH3PXD2B F chr5_171881673_171881879_10010_1 1 . -1 -1 . -1 . . . . . . . chr5 172193800 172194232 DUSP1 F chr5_172193816_172194202_11111_4:chr5_172198056_172198566_11111_2 2 . -1 -1 . -1 . . . . . . . chr5 172193816 172198703 DUSP1 F chr5_172193500_172194202_11111_4 1 . -1 -1 . -1 . . . . . . . chr5 172197093 172199980 DUSP1 S chr5_172295602_172295757_10111_2:chr5_172296128_172296448_11111_3:chr5_172330038_172330114_10000_1 3 . -1 -1 . -1 . . . . . . . chr5 172197702 172199555 DUSP1 F chr5_172198449_172198566_11111_2:chr5_172199409_172199843_11111_3 2 . -1 -1 . -1 . . . . . . . chr5 172197702 172200790 DUSP1 F chr5_172200904_172201063_11010_1 1 . -1 -1 . -1 . . . . . . . chr5 172198749 172199959 DUSP1 F chr5_172198056_172198566_11111_2:chr5_172199409_172199555_11111_3 2 . -1 -1 . -1 . . . . . . . chr5 172200337 172200842 DUSP1 F chr5_172198056_172198566_11111_2:chr5_172199409_172199843_11111_3 2 . -1 -1 . -1 . . . . . . . chr5 172257827 172258390 ERGIC1 F chr5_172259734_172259996_10000_3:chr5_172260862_172261436_11100_1 2 . -1 -1 . -1 . . . . . . . chr5 172264744 172264958 ERGIC1 F chr5_172260862_172261436_11100_1 1 . -1 -1 . -1 . . . . . . . chr5 172295544 172296528 DUSP1 S chr5_172198056_172198566_11111_2:chr5_172199409_172199843_11111_3 2 . -1 -1 . -1 . . . . . . . chr5 172330038 172330525 DUSP1 S chr5_172198056_172198566_11111_2:chr5_172199409_172199843_11111_3 2 . -1 -1 . -1 . . . . . . . chr5 173312606 173312854 CPEB4 F chr5_173315129_173315273_11111_1 1 . -1 -1 . -1 . . . . . . . chr5 175960399 175964921 RNF44 F chr5_175960872_175961018_10000_3 1 . -1 -1 . -1 . . . . . . . chr5 175960481 175960718 RNF44 F chr5_175960872_175961367_10000_3:chr5_175961706_175961880_10000_1:chr5_175964843_175964921_10111_2 3 . -1 -1 . -1 . . . . . . . chr5 175962179 175962700 RNF44 F chr5_175964843_175964921_10111_2 1 . -1 -1 . -1 . . . . . . . chr5 175962239 175964921 RNF44 F chr5_175961879_175961880_10000_1 1 . -1 -1 . -1 . . . . . . . chr5 175962739 175965262 CDHR2 S chr5_176521653_176521895_10000_2 1 . -1 -1 . -1 . . . . . . . chr5 176513800 176515597 FGFR4 S chr5_176521653_176521895_10000_2 1 . -1 -1 . -1 . . . . . . . chr5 176521400 176522200 CDHR2 S chr5_175964843_175965131_10111_2 1 . -1 -1 . -1 . . . . . . . chr5 176521400 176522200 FGFR4 S chr5_176514157_176514421_10101_4 1 . -1 -1 . -1 . . . . . . . chr5 176855088 176855271 GRK6 F chr5_176853451_176853561_11101_1 1 . -1 -1 . -1 . . . . . . . chr5 176856256 176856655 GRK6 F chr5_176853451_176853561_11101_1 1 . -1 -1 . -1 . . . . . . . chr5 178052813 178053238 CLK4 F chr5_178053138_178053287_11111_1 1 . -1 -1 . -1 . . . . . . . chr5 178052825 178054554 CLK4 F chr5_178053138_178053287_11111_1 1 . -1 -1 . -1 . . . . . . . chr5 179159030 179160351 MAML1 F chr5_179159198_179159624_11111_1 1 . -1 -1 . -1 . . . . . . . chr5 179159137 179159324 MAML1 F chr5_179159198_179159758_11111_1 1 . -1 -1 . -1 . . . . . . . chr5 179496772 179499609 RNF130 F chr5_179496940_179497127_10000_1 1 . -1 -1 . -1 . . . . . . . chr5 179496781 179497164 RNF130 F chr5_179496940_179497127_10000_1:chr5_179498517_179498639_10000_1:chr5_179498897_179499281_10000_1 3 . -1 -1 . -1 . . . . . . . chr6 290595 290748 DUSP22 F chr6_291514_291758_10000_1:chr6_292109_292566_10000_2 2 . -1 -1 . -1 . . . . . . . chr6 2841399 2842351 SERPINB1 S chr6_3370586_3371085_11001_3:chr6_3371495_3371561_10001_1:chr6_3403521_3403928_11101_4:chr6_3835554_3836129_10100_3 4 . -1 -1 . -1 . . . . . . . chr6 2876556 2878132 ENSG00000230438 S chr6_3403521_3403928_11101_4 1 . -1 -1 . -1 . . . . . . . chr6 2902288 2902696 SERPINB9 F chr6_2902708_2902923_10000_1:chr6_2903524_2903802_10000_1 2 . -1 -1 . -1 . . . . . . . chr6 2902292 2904045 SERPINB9 F chr6_2902708_2902923_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 2932200 2932549 NQO2 S chr6_2990114_2990265_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 2988639 2990649 NQO2 S chr6_3002170_3002176_10000_2:chr6_3370586_3371085_11001_3:chr6_3371495_3371561_10001_1:chr6_3403521_3403928_11101_4:chr6_3835554_3836129_10100_3:chr6_3906873_3907046_10000_1 6 . -1 -1 . -1 . . . . . . . chr6 2999381 3000743 NQO2 S chr6_3403521_3403928_11101_4 1 chr6 3000303 3000304 CR093469 + 3 DFP rs2071002 NQO2 Breast cancer: decreased risk: association with CGGGTCCCAGTCCTGCGGCTCCTACTGGGG[A/C]GTGCGCTGGTCGGAAGGTGAGTGATCCCCT 19351655 chr6 3002044 3002176 NQO2 S chr6_2990114_2990265_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 3068358 3069735 RIPK1 S chr6_3403521_3403928_11101_4:chr6_3906873_3907046_10000_1 2 . -1 -1 . -1 . . . . . . . chr6 3157342 3158237 TUBB2A S chr6_3403521_3403928_11101_4 1 . -1 -1 . -1 . . . . . . . chr6 3195890 3196557 ENSG00000230269 S chr6_3002170_3002176_10000_2:chr6_3370586_3371085_11001_3:chr6_3371495_3371561_10001_1:chr6_3403521_3403928_11101_4:chr6_3835554_3836129_10100_3:chr6_3906873_3907046_10000_1 6 . -1 -1 . -1 . . . . . . . chr6 3370501 3371561 NQO2 S chr6_2990114_2990265_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 3370501 3371561 SERPINB1 S chr6_2841498_2842236_11000_2 1 . -1 -1 . -1 . . . . . . . chr6 3402800 3404563 ENSG00000230438 S chr6_2876617_2877163_11000_4:chr6_2877831_2877990_10000_1 2 . -1 -1 . -1 . . . . . . . chr6 3402800 3404563 NQO2 S chr6_2990114_2990265_10000_1:chr6_2999462_2999721_10000_2:chr6_3000094_3000279_10000_2 3 . -1 -1 . -1 . . . . . . . chr6 3402800 3404563 PRPF4B S chr6_4021479_4021589_11000_1 1 . -1 -1 . -1 . . . . . . . chr6 3402800 3404563 RIPK1 S chr6_3068546_3068777_10000_1:chr6_3069078_3069365_10000_1 2 . -1 -1 . -1 . . . . . . . chr6 3402800 3404563 SERPINB1 S chr6_2841498_2842236_11000_2 1 . -1 -1 . -1 . . . . . . . chr6 3402800 3404563 TUBB2A S chr6_3157683_3157919_11101_1 1 . -1 -1 . -1 . . . . . . . chr6 3749707 3750120 C6orf145 F chr6_3749742_3749913_10100_2:chr6_3752204_3752348_10101_1 2 . -1 -1 . -1 . . . . . . . chr6 3749713 3752746 C6orf145 F chr6_3749742_3749913_10100_2 1 . -1 -1 . -1 . . . . . . . chr6 3835269 3836158 NQO2 S chr6_2990114_2990265_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 3835269 3836158 SERPINB1 S chr6_2841498_2842236_11000_2 1 . -1 -1 . -1 . . . . . . . chr6 3906136 3907243 NQO2 S chr6_2990114_2990265_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 3906136 3907243 RIPK1 S chr6_3068546_3068777_10000_1:chr6_3069078_3069365_10000_1 2 . -1 -1 . -1 . . . . . . . chr6 4021136 4022342 PRPF4B S chr6_3403521_3403928_11101_4 1 . -1 -1 . -1 . . . . . . . chr6 5003623 5004856 RPP40 S chr6_5059468_5059980_11000_4 1 . -1 -1 . -1 . . . . . . . chr6 7138600 7139806 RREB1 S chr6_7561587_7562222_10000_4 1 . -1 -1 . -1 . . . . . . . chr6 7389473 7390618 RIOK1 S chr6_7561587_7562222_10000_4 1 . -1 -1 . -1 . . . . . . . chr6 7541252 7543625 DSP S chr6_7561587_7562222_10000_4:chr6_8085195_8085599_10000_3 2 chr6 7542236 7542237 CM063961 + 1 DM rs121912998 DSP Cardiomyopathy: arrhythmogenic right ventricular GCCGAGTCTGGCCCGGACCTGCGCTACGAG[G/A]TGACCAGCGGCGGCGGGGGCACCAGCAGGA 16917092 chr6 7541252 7543625 DSP S chr6_7561587_7562222_10000_4:chr6_8085195_8085599_10000_3 2 chr6 7542299 7542300 CM136692 + 1 DM NULL DSP Arrhythmogenic right ventricular dysplasia/cardiomyopathy TACTATTCTCGGCGCGGCGTGATCACCGAC[C/T]AGAACTCGGACGGCTACTGgtgggtacctg 23810894 chr6 7560756 7562400 BLOC1S5 S chr6_8064627_8064956_11000_1 1 . -1 -1 . -1 . . . . . . . chr6 7560756 7562400 DSP S chr6_7541570_7541887_10000_1:chr6_7543268_7543614_10000_3 2 . -1 -1 . -1 . . . . . . . chr6 7560756 7562400 RREB1 S chr6_7138788_7139053_10001_1:chr6_7139287_7139491_11101_3 2 . -1 -1 . -1 . . . . . . . chr6 7590195 7591046 SNRNP48 S chr6_7561587_7562222_10000_4 1 . -1 -1 . -1 . . . . . . . chr6 7908907 7909036 TXNDC5 S chr6_8085195_8085599_10000_3 1 . -1 -1 . -1 . . . . . . . chr6 8063921 8064978 BLOC1S5 S chr6_7561587_7562222_10000_4 1 . -1 -1 . -1 . . . . . . . chr6 8084843 8085764 DSP S chr6_7541570_7541887_10000_1:chr6_7543268_7543614_10000_3 2 . -1 -1 . -1 . . . . . . . chr6 11043398 11045007 ELOVL2 S chr6_11207235_11207636_11001_2:chr6_11323934_11324078_10101_1:chr6_11366918_11367118_10000_1:chr6_11367895_11368283_10000_2:chr6_11398739_11398938_10000_3:chr6_11399213_11399523_10000_2 6 . -1 -1 . -1 . . . . . . . chr6 11202642 11203600 NEDD9 S chr6_11232888_11233057_11101_1:chr6_11233547_11233657_11000_1 2 . -1 -1 . -1 . . . . . . . chr6 11229489 11229708 NEDD9 F chr6_11232888_11233057_11101_1 1 . -1 -1 . -1 . . . . . . . chr6 11236748 11236970 NEDD9 F chr6_11232888_11233057_11101_1:chr6_11233547_11233657_11000_1 2 . -1 -1 . -1 . . . . . . . chr6 13406327 13408801 SIRT5 S chr6_13574595_13574849_11000_1:chr6_13575112_13575681_11001_2 2 . -1 -1 . -1 . . . . . . . chr6 13574039 13575695 SIRT5 S chr6_13406492_13406748_11000_3:chr6_13407944_13408328_00000_3 2 . -1 -1 . -1 . . . . . . . chr6 16539400 16540357 ATXN1 S chr6_16759914_16760535_11101_2:chr6_16761246_16761386_10100_2:chr6_16761866_16762223_10101_2:chr6_16763403_16763495_10101_1 4 . -1 -1 . -1 . . . . . . . chr6 16699800 16701050 ATXN1 S chr6_16759914_16760535_11101_2:chr6_16761246_16761386_10100_2:chr6_16761866_16762223_10101_2 3 . -1 -1 . -1 . . . . . . . chr6 16756855 16757000 ATXN1 S chr6_16759914_16760535_11101_2:chr6_16761246_16761386_10100_2:chr6_16761866_16762223_10101_2 3 . -1 -1 . -1 . . . . . . . chr6 16759876 16762643 ATXN1 S chr6_16539903_16540103_10000_1:chr6_16699800_16699945_10000_3 2 . -1 -1 . -1 . . . . . . . chr6 16763403 16763495 ATXN1 S chr6_16539903_16540103_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 17703349 17707318 NUP153 F chr6_17703669_17703842_11000_1 1 . -1 -1 . -1 . . . . . . . chr6 17703484 17703614 NUP153 F chr6_17703669_17703842_11000_1:chr6_17707065_17707313_11101_3 2 . -1 -1 . -1 . . . . . . . chr6 18153063 18156119 KDM1B F chr6_18153648_18153744_11101_2 1 . -1 -1 . -1 . . . . . . . chr6 18153083 18153444 KDM1B F chr6_18153648_18153850_11101_2:chr6_18155498_18155647_10101_1 2 . -1 -1 . -1 . . . . . . . chr6 18263099 18263635 DEK F chr6_18264648_18265140_11101_1 1 . -1 -1 . -1 . . . . . . . chr6 18391380 18391715 RNF144B F chr6_18387484_18387784_11101_3:chr6_18389264_18389563_11101_2:chr6_18389797_18390116_11101_1 3 . -1 -1 . -1 . . . . . . . chr6 26016670 26018540 HIST1H1A F chr6_26016893_26017099_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 26016753 26016987 HIST1H1A F chr6_26016893_26017099_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 26123872 26126770 HIST1H2AC F chr6_26126394_26126517_11000_1 1 . -1 -1 . -1 . . . . . . . chr6 26126352 26126787 HIST1H2AC F chr6_26126394_26126517_11000_1 1 . -1 -1 . -1 . . . . . . . chr6 27094506 27094909 HIST1H2BO S chr6_27860967_27861236_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 27125000 27126151 HIST1H2BO S chr6_27860967_27861236_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 27780866 27781094 HIST1H3H F chr6_27779963_27780131_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 27805616 27807692 HIST1H2AK F chr6_27807397_27807613_10000_2 1 . -1 -1 . -1 . . . . . . . chr6 27805939 27807692 HIST1H2BN F chr6_27807397_27807613_10000_2 1 . -1 -1 . -1 . . . . . . . chr6 27807310 27807672 HIST1H2AK F chr6_27806086_27806327_10000_1:chr6_27807397_27807613_10000_2 2 . -1 -1 . -1 . . . . . . . chr6 27807310 27807672 HIST1H2BN F chr6_27806086_27806327_10000_1:chr6_27807397_27807613_10000_2 2 . -1 -1 . -1 . . . . . . . chr6 27862895 27863061 HIST1H2AM F chr6_27860967_27861236_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 27862895 27863061 HIST1H2BO F chr6_27860967_27861236_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 27863298 27863662 HIST1H2AM F chr6_27860967_27861236_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 27863298 27863662 HIST1H2BO F chr6_27860967_27861236_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 30034406 30035434 ENSG00000204619 S chr6_30495783_30496109_10000_3 1 . -1 -1 . -1 . . . . . . . chr6 30495414 30496302 ENSG00000137312 S chr6_30710452_30711087_10000_4 1 . -1 -1 . -1 . . . . . . . chr6 30495414 30496302 ENSG00000137343 S chr6_30594414_30594967_11111_2 1 . -1 -1 . -1 . . . . . . . chr6 30495414 30496302 ENSG00000204619 S chr6_30034665_30035044_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 30495414 30496302 ENSG00000228022 S chr6_30749586_30749937_10010_3 1 . -1 -1 . -1 . . . . . . . chr6 30495414 30496302 VARS2 S chr6_30881520_30882099_11111_1 1 . -1 -1 . -1 . . . . . . . chr6 30509450 30509595 ENSG00000137343 S chr6_30594414_30594967_11111_2 1 . -1 -1 . -1 . . . . . . . chr6 30594229 30595088 ENSG00000137343 S chr6_30495783_30496109_10000_3:chr6_30622977_30623132_10000_1:chr6_30755878_30756061_10000_1 3 . -1 -1 . -1 . . . . . . . chr6 30622800 30623660 ENSG00000137343 S chr6_30594414_30594967_11111_2 1 . -1 -1 . -1 . . . . . . . chr6 30651242 30651620 KIAA1949 F chr6_30654505_30654617_10100_1:chr6_30654505_30654617_10100_1:chr6_30655140_30655342_10000_1:chr6_30655140_30655342_10000_1 4 . -1 -1 . -1 . . . . . . . chr6 30707439 30707800 ENSG00000137337 S chr6_30690526_30690834_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 30707439 30707800 ENSG00000198563 S chr6_31508945_31509141_11100_1:chr6_31510122_31510258_11110_1 2 . -1 -1 . -1 . . . . . . . chr6 30707439 30707800 ENSG00000204410 S chr6_31706202_31706747_10010_2:chr6_31707230_31707796_11010_1 2 . -1 -1 . -1 . . . . . . . chr6 30707439 30707800 ENSG00000213722 S chr6_31697574_31697762_11010_1 1 . -1 -1 . -1 . . . . . . . chr6 30709644 30712400 ENSG00000137312 S chr6_30495783_30496109_10000_3 1 . -1 -1 . -1 . . . . . . . chr6 30712400 30712708 ENSG00000204410 S chr6_31706202_31706747_10010_2:chr6_31707230_31707796_11010_1 2 . -1 -1 . -1 . . . . . . . chr6 30749503 30750077 ENSG00000228022 S chr6_30495783_30496109_10000_3 1 . -1 -1 . -1 . . . . . . . chr6 30755758 30756230 ENSG00000137343 S chr6_30594414_30594967_11111_2 1 . -1 -1 . -1 . . . . . . . chr6 30789674 30791037 ENSG00000137312 S chr6_30710452_30711087_10000_4 1 . -1 -1 . -1 . . . . . . . chr6 30789674 30791037 ENSG00000137343 S chr6_30594414_30594967_11111_2 1 . -1 -1 . -1 . . . . . . . chr6 30789674 30791037 ENSG00000204410 S chr6_31706202_31706747_10010_2:chr6_31707230_31707796_11010_1 2 . -1 -1 . -1 . . . . . . . chr6 30789674 30791037 ENSG00000204439 S chr6_31623523_31623745_11111_2 1 . -1 -1 . -1 . . . . . . . chr6 30789674 30791037 ENSG00000213722 S chr6_31697574_31697762_11010_1 1 . -1 -1 . -1 . . . . . . . chr6 30789674 30791037 VARS2 S chr6_30881520_30882099_11111_1 1 . -1 -1 . -1 . . . . . . . chr6 30881446 30882919 VARS2 S chr6_30495783_30496109_10000_3 1 . -1 -1 . -1 . . . . . . . chr6 31240851 31241006 HLA-C F chr6_31239480_31239974_00000_2 1 . -1 -1 . -1 . . . . . . . chr6 31496695 31497600 ENSG00000137343 S chr6_30594414_30594967_11111_2 1 . -1 -1 . -1 . . . . . . . chr6 31496695 31497600 ENSG00000198563 S chr6_31508945_31509141_11100_1:chr6_31510122_31510258_11110_1 2 . -1 -1 . -1 . . . . . . . chr6 31496695 31497600 ENSG00000204410 S chr6_31706202_31706747_10010_2:chr6_31707230_31707796_11010_1 2 . -1 -1 . -1 . . . . . . . chr6 31496695 31497600 ENSG00000204444 S chr6_31620385_31620997_11111_2 1 . -1 -1 . -1 . . . . . . . chr6 31496695 31497600 ENSG00000204576 S chr6_30524246_30524907_10000_3 1 . -1 -1 . -1 . . . . . . . chr6 31496695 31497600 ENSG00000213722 S chr6_31697574_31697762_11010_1 1 . -1 -1 . -1 . . . . . . . chr6 31496695 31497600 VARS2 S chr6_30881520_30882099_11111_1 1 . -1 -1 . -1 . . . . . . . chr6 31514535 31514805 ENSG00000198563 S chr6_32087167_32087339_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 31619469 31621237 ENSG00000204444 S chr6_32087167_32087339_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 31623301 31623964 ENSG00000204439 S chr6_32087167_32087339_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 31696970 31698283 ENSG00000213722 S chr6_32087167_32087339_10000_1 1 chr6 31697957 31697958 CR125411 - 3 DFP rs9267551 DDAH2 Insulin sensitivity: association with TAGTATATGAGCTCGCCTACACAAGGACCC[C/G]CGCTAAAAGCCAGAGCTCCCAGTCCCCGAG 22558392 chr6 31702473 31708092 ENSG00000204410 S chr6_32087167_32087339_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 31703840 31706074 CLIC1 F chr6_31706202_31706442_10010_2 1 . -1 -1 . -1 . . . . . . . chr6 31794953 31796000 ENSG00000204388 S chr6_32087167_32087339_10000_1 1 chr6 31795275 31795276 CR043381 + 3 FP rs11576017 HSPA1B Altered promoter activity ATGGAGACCAACACCCTTCCCACCACCACT[C/T]CCCCTTTCTCTCAGGGCCCCTGTCCCCTCC 15511631 chr6 31794953 31796000 ENSG00000204388 S chr6_32087167_32087339_10000_1 1 chr6 31795550 31795551 CR1110496 + 3 DFP rs6457452 HSPA1B Lung cancer: increased risk: association with GCCAGCCTGAGGAGCTGCTGCGAGGGTCCG[C/T]TTCGTCTTTCGAGAGTGACTCCCGCGGTCC 22037874 chr6 31799000 31799769 ENSG00000213722 S chr6_31697574_31697762_11010_1 1 . -1 -1 . -1 . . . . . . . chr6 31831251 31832588 ENSG00000204385 S chr6_32087167_32087339_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 31832696 31834022 ENSG00000204385 S chr6_32087167_32087339_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 31838400 31839200 ENSG00000213722 S chr6_31697574_31697762_11010_1 1 . -1 -1 . -1 . . . . . . . chr6 31869296 31870483 ENSG00000166278 S chr6_32087167_32087339_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 31913400 31914525 ENSG00000166278 S chr6_32087167_32087339_10000_1 1 chr6 31914024 31914025 CM065065 + 1 DP rs4151667 CFB Macular degeneration: risk: association with acgccATGGGGAGCAATCTCAGCCCCCAAC[T/A]CTGCCTGATGCCCTTTATCTTGGGCCTCTT 16518403 chr6 31913400 31914525 ENSG00000166278 S chr6_32087167_32087339_10000_1 1 chr6 31914179 31914180 CM087207 + 1 FP rs12614 CFB Altered binding affinity gGTGTGACCACCACTCCATGGTCTTTGGCC[C/T]GGCCCCAGGGATCCTGCTCTCTGGAGGGGG 19009711 chr6 31913400 31914525 ENSG00000166278 S chr6_32087167_32087339_10000_1 1 chr6 31914180 31914181 CM065064 + 1 DFP rs641153 CFB Macular degeneration: risk: association with GTGTGACCACCACTCCATGGTCTTTGGCCC[G/A]GCCCCAGGGATCCTGCTCTCTGGAGGGGGT 16518403 chr6 32086704 32087501 ENSG00000166278 S chr6_31870452_31870483_10111_1:chr6_31913400_31913989_11111_4 2 . -1 -1 . -1 . . . . . . . chr6 32086704 32087501 ENSG00000204256 S chr6_32936197_32936500_11010_1:chr6_32937629_32937739_11000_1:chr6_32938674_32938903_11010_1:chr6_32939374_32939962_11010_1 4 . -1 -1 . -1 . . . . . . . chr6 32086704 32087501 ENSG00000204314 S chr6_32121910_32122094_11110_1 1 . -1 -1 . -1 . . . . . . . chr6 32086704 32087501 ENSG00000204385 S chr6_31831521_31831685_10010_1 1 . -1 -1 . -1 . . . . . . . chr6 32086704 32087501 ENSG00000204388 S chr6_31795024_31796000_10010_3 1 . -1 -1 . -1 . . . . . . . chr6 32086704 32087501 ENSG00000204410 S chr6_31706202_31706747_10010_2:chr6_31707230_31707796_11010_1 2 . -1 -1 . -1 . . . . . . . chr6 32086704 32087501 ENSG00000204439 S chr6_31623523_31623745_11111_2 1 . -1 -1 . -1 . . . . . . . chr6 32086704 32087501 ENSG00000204444 S chr6_31620385_31620997_11111_2 1 . -1 -1 . -1 . . . . . . . chr6 32086704 32087501 ENSG00000213722 S chr6_31697574_31697762_11010_1 1 . -1 -1 . -1 . . . . . . . chr6 32121034 32122747 ENSG00000204314 S chr6_32087167_32087339_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 32405012 32405514 HLA-DRA F chr6_32407523_32407689_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 32406945 32406991 HLA-DRA F chr6_32407523_32407689_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 32555783 32556185 HLA-DRB1 F chr6_32557505_32557754_10101_1 1 . -1 -1 . -1 . . . . . . . chr6 32935800 32941216 ENSG00000204256 S chr6_32087167_32087339_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 33553200 33553518 ENSG00000232940 S chr6_33216984_33217253_11000_2 1 . -1 -1 . -1 . . . . . . . chr6 33553671 33554000 ENSG00000232940 S chr6_33216984_33217253_11000_2 1 . -1 -1 . -1 . . . . . . . chr6 33712196 33715262 IP6K3 F chr6_33712009_33712266_11000_2 1 . -1 -1 . -1 . . . . . . . chr6 33712309 33712484 IP6K3 F chr6_33712196_33712266_11000_2:chr6_33714677_33714882_10000_1 2 . -1 -1 . -1 . . . . . . . chr6 34759293 34760997 UHRF1BP1 F chr6_34760566_34761026_11110_1 1 . -1 -1 . -1 . . . . . . . chr6 34760607 34760986 UHRF1BP1 F chr6_34760566_34760997_11110_1 1 . -1 -1 . -1 . . . . . . . chr6 35228332 35228733 ZNF76 F chr6_35227137_35227480_10010_1 1 . -1 -1 . -1 . . . . . . . chr6 35309834 35311604 PPARD F chr6_35311314_35311509_11010_1 1 . -1 -1 . -1 . . . . . . . chr6 35311267 35311540 PPARD F chr6_35310201_35310334_11000_1:chr6_35311314_35311509_11010_1 2 . -1 -1 . -1 . . . . . . . chr6 35995192 35996870 SLC26A8 S chr6_36634894_36635090_10000_2 1 . -1 -1 . -1 . . . . . . . chr6 36062647 36063000 C6orf89 S chr6_36853552_36853732_11010_1 1 . -1 -1 . -1 . . . . . . . chr6 36390461 36390800 PIM1 S chr6_37137800_37137972_11010_2:chr6_37139885_37140296_11010_3 2 . -1 -1 . -1 . . . . . . . chr6 36409169 36411044 KCTD20 F chr6_36409203_36409468_10000_2 1 . -1 -1 . -1 . . . . . . . chr6 36409169 36411166 PXT1 F chr6_36409203_36409468_10000_2 1 . -1 -1 . -1 . . . . . . . chr6 36409257 36409482 KCTD20 F chr6_36409203_36409468_10000_2:chr6_36410660_36410770_11010_1 2 . -1 -1 . -1 . . . . . . . chr6 36409257 36409482 PXT1 F chr6_36409203_36409468_10000_2:chr6_36410660_36410770_11010_1 2 . -1 -1 . -1 . . . . . . . chr6 36534343 36535000 PIM1 S chr6_37137800_37137972_11010_2:chr6_37139885_37140296_11010_3 2 . -1 -1 . -1 . . . . . . . chr6 36575800 36577400 PIM1 S chr6_37137800_37137972_11010_2:chr6_37139885_37140296_11010_3 2 . -1 -1 . -1 . . . . . . . chr6 36611600 36611800 PIM1 S chr6_37137800_37137972_11010_2:chr6_37139885_37140296_11010_3 2 . -1 -1 . -1 . . . . . . . chr6 36634666 36635390 C6orf89 S chr6_36853552_36853732_11010_1 1 . -1 -1 . -1 . . . . . . . chr6 36634666 36635390 PIM1 S chr6_37137800_37137972_11010_2:chr6_37139885_37140296_11010_3 2 . -1 -1 . -1 . . . . . . . chr6 36634666 36635390 SLC26A8 S chr6_35995294_35995532_10000_2 1 . -1 -1 . -1 . . . . . . . chr6 36820275 36820875 PIM1 S chr6_37137800_37137972_11010_2:chr6_37139885_37140296_11010_3 2 . -1 -1 . -1 . . . . . . . chr6 36853372 36854111 C6orf89 S chr6_36634894_36635090_10000_2 1 . -1 -1 . -1 . . . . . . . chr6 37050776 37050800 PIM1 S chr6_37137800_37137972_11010_2:chr6_37139885_37140296_11010_3 2 . -1 -1 . -1 . . . . . . . chr6 37074531 37075399 PIM1 S chr6_37137800_37137972_11010_2:chr6_37139885_37140296_11010_3 2 . -1 -1 . -1 . . . . . . . chr6 37112129 37112891 PIM1 S chr6_37137800_37137972_11010_2:chr6_37139885_37140296_11010_3 2 . -1 -1 . -1 . . . . . . . chr6 37115453 37116583 PIM1 S chr6_37137800_37137972_11010_2:chr6_37139885_37140296_11010_3 2 . -1 -1 . -1 . . . . . . . chr6 37137800 37140325 PIM1 S chr6_36534344_36534607_11000_1:chr6_36576047_36576162_10000_1:chr6_36576996_36577199_10000_2:chr6_36634894_36635090_10000_2:chr6_36820318_36820483_10000_1:chr6_37074766_37075110_11100_1:chr6_37112326_37112692_10010_2:chr6_37115978_37116442_11010_3:chr6_37212502_37212900_11110_4:chr6_37292859_37293073_10000_2:chr6_37293562_37293629_10000_1:chr6_37850552_37850701_10000_2:chr6_37850991_37851145_10000_1:chr6_37898635_37898774_10101_3 14 . -1 -1 . -1 . . . . . . . chr6 37210294 37210793 PIM1 S chr6_37137800_37137972_11010_2:chr6_37139885_37140296_11010_3 2 . -1 -1 . -1 . . . . . . . chr6 37212400 37213156 PIM1 S chr6_37137800_37137972_11010_2:chr6_37139885_37140296_11010_3 2 . -1 -1 . -1 . . . . . . . chr6 37292657 37293629 PIM1 S chr6_37137800_37137972_11010_2:chr6_37139885_37140296_11010_3 2 . -1 -1 . -1 . . . . . . . chr6 37321200 37321400 PIM1 S chr6_37137800_37137972_11010_2:chr6_37139885_37140296_11010_3 2 . -1 -1 . -1 . . . . . . . chr6 37661443 37661783 MDGA1 F chr6_37664911_37665038_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 37663186 37663424 MDGA1 F chr6_37664911_37665038_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 37850182 37850320 PIM1 S chr6_37137800_37137972_11010_2:chr6_37139885_37140296_11010_3 2 . -1 -1 . -1 . . . . . . . chr6 37850478 37851155 PIM1 S chr6_37137800_37137972_11010_2:chr6_37139885_37140296_11010_3 2 . -1 -1 . -1 . . . . . . . chr6 37888530 37888751 PIM1 S chr6_37137800_37137972_11010_2:chr6_37139885_37140296_11010_3 2 . -1 -1 . -1 . . . . . . . chr6 37898635 37898952 PIM1 S chr6_37137800_37137972_11010_2:chr6_37139885_37140296_11010_3 2 . -1 -1 . -1 . . . . . . . chr6 37955477 37955669 PIM1 S chr6_37137800_37137972_11010_2:chr6_37139885_37140296_11010_3 2 . -1 -1 . -1 . . . . . . . chr6 37956400 37956529 PIM1 S chr6_37137800_37137972_11010_2:chr6_37139885_37140296_11010_3 2 . -1 -1 . -1 . . . . . . . chr6 39195802 39196179 KCNK5 F chr6_39197171_39197501_10010_1 1 . -1 -1 . -1 . . . . . . . chr6 39280684 39281091 KCNK17 F chr6_39280687_39280922_11000_1:chr6_39280687_39280922_11000_1 2 . -1 -1 . -1 . . . . . . . chr6 39280687 39282736 KCNK17 F chr6_39280648_39280922_11000_1 1 . -1 -1 . -1 . . . . . . . chr6 39280687 39282737 KCNK17 F chr6_39280648_39280922_11000_1 1 . -1 -1 . -1 . . . . . . . chr6 41006437 41008712 UNC5CL F chr6_41008325_41008682_11000_3 1 . -1 -1 . -1 . . . . . . . chr6 41007200 41009000 TSPO2 S chr6_41536378_41536715_11101_3 1 . -1 -1 . -1 . . . . . . . chr6 41008311 41010737 TSPO2 F chr6_41008325_41008682_11000_3 1 . -1 -1 . -1 . . . . . . . chr6 41008311 41010957 TSPO2 F chr6_41008325_41008682_11000_3 1 . -1 -1 . -1 . . . . . . . chr6 41008417 41008606 TSPO2 F chr6_41008325_41008682_11000_3:chr6_41008325_41008682_11000_3 2 . -1 -1 . -1 . . . . . . . chr6 41008417 41008606 UNC5CL F chr6_41006915_41007261_10000_1:chr6_41008325_41008682_11000_3 2 . -1 -1 . -1 . . . . . . . chr6 41031569 41032147 PRICKLE4 S chr6_41747627_41747800_11111_1 1 . -1 -1 . -1 . . . . . . . chr6 41486775 41488400 ENSG00000226917 S chr6_41536378_41536715_11101_3 1 . -1 -1 . -1 . . . . . . . chr6 41536200 41536800 MRPS10 S chr6_42185578_42185741_10010_1 1 . -1 -1 . -1 . . . . . . . chr6 41536200 41536800 PRICKLE4 S chr6_41747627_41747800_11111_1 1 . -1 -1 . -1 . . . . . . . chr6 41536200 41536800 TSPO2 S chr6_41007200_41007261_10000_1:chr6_41008325_41008682_11000_3 2 . -1 -1 . -1 . . . . . . . chr6 41747246 41748293 PRICKLE4 S chr6_41536378_41536715_11101_3 1 . -1 -1 . -1 . . . . . . . chr6 41754071 41756154 PRICKLE4 S chr6_41536378_41536715_11101_3 1 . -1 -1 . -1 . . . . . . . chr6 41906927 41907077 CCND3 F chr6_41909493_41909706_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 41907242 41907431 CCND3 F chr6_41909493_41909706_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 42013318 42013860 CCND3 F chr6_42016321_42016789_10111_1 1 . -1 -1 . -1 . . . . . . . chr6 42185327 42185824 MRPS10 S chr6_41536378_41536715_11101_3 1 . -1 -1 . -1 . . . . . . . chr6 42689857 42694736 PRPH2 F chr6_42694390_42694553_10000_1 1 chr6 42689871 42689872 CM951115 - 1 DM NULL PRPH2 Pattern/cone-rod dystrophy CATTTTGTGCCCAACTCATTGATAGGGATG[G/C]GGGTGCTATCCTGTGTCTTCAACTCGCTGG ABST chr6 42689857 42694736 PRPH2 F chr6_42694390_42694553_10000_1 1 chr6 42689871 42689875 CX962665 - 4 DM NULL PRPH2 Retinitis pigmentosa GAGCCATTTTGTGCCCAACTCATTGATAGG[GATGG/AAGACACA]GGGTGCTATCCTGTGTCTTCAACTCGCTGG 8675410 chr6 42689857 42694736 PRPH2 F chr6_42694390_42694553_10000_1 1 chr6 42689872 42689874 CD941787 - 5 DM rs61755773 PRPH2 Pattern/cone-rod dystrophy AGCCATTTTGTGCCCAACTCATTGATAGGG[ATG/-]GGGGTGCTATCCTGTGTCTTCAACTCGCTG ABST chr6 42689857 42694736 PRPH2 F chr6_42694390_42694553_10000_1 1 chr6 42689910 42689911 CD075522 - 5 DM NULL PRPH2 Pattern dystrophy CTCCGAAAGAGGAGCGATGTGATGAATAAT[T/-]CTGAGAGCCATTTTGTGCCCAACTCATTGA 17504850 chr6 42689857 42694736 PRPH2 F chr6_42694390_42694553_10000_1 1 chr6 42689937 42689938 CM930635 - 1 DM rs61755771 PRPH2 Retinitis pigmentosa AGCCTAGGACTGTTCCTGAAGATTGAACTC[C/T]GAAAGAGGAGCGATGTGATGAATAATTCTG 8111389 chr6 42689857 42694736 PRPH2 F chr6_42694390_42694553_10000_1 1 chr6 42689940 42689941 CM951114 - 1 DM rs61755770 PRPH2 Retinitis pigmentosa TTCAGCCTAGGACTGTTCCTGAAGATTGAA[C/T]TCCGAAAGAGGAGCGATGTGATGAATAATT ABST chr6 42689857 42694736 PRPH2 F chr6_42694390_42694553_10000_1 1 chr6 42689957 42689958 CM1310198 - 1 DM NULL PRPH2 Retinitis pigmentosa TGGCTGGCATCATCATCTTCAGCCTAGGAC[T/C]GTTCCTGAAGATTGAACTCCGAAAGAGGAG 23484092 chr6 42689857 42694736 PRPH2 F chr6_42694390_42694553_10000_1 1 chr6 42689960 42689961 CD030391 - 5 DM rs61755769 PRPH2 Foveamacular dystrophy: adult onset TGTTGGCTGGCATCATCATCTTCAGCCTAG[G/-]ACTGTTCCTGAAGATTGAACTCCGAAAGAG 12566026 chr6 42689857 42694736 PRPH2 F chr6_42694390_42694553_10000_1 1 chr6 42689976 42689977 CI962664 - 6 DM rs61755768 PRPH2 Retinitis pigmentosa ATGAACTGGTTCTCCGTGTTGGCTGGCATC[-/C]ATCATCTTCAGCCTAGGACTGTTCCTGAAG 8675410 chr6 42689857 42694736 PRPH2 F chr6_42694390_42694553_10000_1 1 chr6 42689979 42689980 CM951113 - 1 DM rs61755767 PRPH2 Macular dystrophy CTCATGAACTGGTTCTCCGTGTTGGCTGGC[A/G]TCATCATCTTCAGCCTAGGACTGTTCCTGA ABST chr6 42689857 42694736 PRPH2 F chr6_42694390_42694553_10000_1 1 chr6 42689993 42689994 CM973129 - 1 DM rs61755766 PRPH2 Cone dystrophy CCCAAGGGCTCTGGCTCATGAACTGGTTCT[C/T]CGTGTTGGCTGGCATCATCATCTTCAGCCT 9052636 chr6 42689857 42694736 PRPH2 F chr6_42694390_42694553_10000_1 1 chr6 42689998 42689999 CM127070 - 1 DM rs146686238 PRPH2 Stargardt disease GTTGGCCCAAGGGCTCTGGCTCATGAACTG[G/C]TTCTCCGTGTTGGCTGGCATCATCATCTTC 22863181 chr6 42689857 42694736 PRPH2 F chr6_42694390_42694553_10000_1 1 chr6 42689999 42690000 CD931049 - 5 DM rs61755765 PRPH2 Retinitis punctata albescens AAGTTGGCCCAAGGGCTCTGGCTCATGAAC[TG/-]GTTCTCCGTGTTGGCTGGCATCATCATCTT 8485575 chr6 42689857 42694736 PRPH2 F chr6_42694390_42694553_10000_1 1 chr6 42690010 42690011 CM074985 - 1 DM NULL PRPH2 Pattern dystrophy GAAGCGGGTCAAGTTGGCCCAAGGGCTCTG[G/A]CTCATGAACTGGTTCTCCGTGTTGGCTGGC 17504850 chr6 42689857 42694736 PRPH2 F chr6_42694390_42694553_10000_1 1 chr6 42690036 42690037 CM951112 - 1 DM? rs61754402 PRPH2 Retinitis pigmentosa CTACTGAAAGTCAAGTTTGACCAGAAGAAG[C/T]GGGTCAAGTTGGCCCAAGGGCTCTGGCTCA ABST chr6 42689857 42694736 PRPH2 F chr6_42694390_42694553_10000_1 1 chr6 42690071 42690072 CM971286 - 1 DM rs121918565 PRPH2 Macular dystrophy ggaagcaacccggactacacttggcaagcA[T/C]GGCGCTACTGAAAGTCAAGTTTGACCAGAA 9338584 chr6 42694331 42694739 PRPH2 F chr6_42694390_42694553_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 42907000 42907875 VEGFA S chr6_43737880_43738495_11111_2:chr6_43739310_43739800_11111_2 2 . -1 -1 . -1 . . . . . . . chr6 43020738 43021844 CUL7 S chr6_43142412_43142543_10101_1 1 . -1 -1 . -1 . . . . . . . chr6 43142400 43142800 CUL7 S chr6_43021478_43021758_11110_1 1 . -1 -1 . -1 . . . . . . . chr6 43142400 43142800 VEGFA S chr6_43737880_43738495_11111_2:chr6_43739310_43739800_11111_2 2 . -1 -1 . -1 . . . . . . . chr6 43258116 43258800 VEGFA S chr6_43737880_43738495_11111_2:chr6_43739310_43739800_11111_2 2 . -1 -1 . -1 . . . . . . . chr6 43463997 43464489 CUL7 S chr6_43021478_43021758_11110_1 1 . -1 -1 . -1 . . . . . . . chr6 43463997 43464489 VEGFA S chr6_43737880_43738495_11111_2:chr6_43739310_43739800_11111_2 2 . -1 -1 . -1 . . . . . . . chr6 43464652 43464860 CUL7 S chr6_43021478_43021758_11110_1 1 . -1 -1 . -1 . . . . . . . chr6 43464652 43464860 VEGFA S chr6_43737880_43738495_11111_2:chr6_43739310_43739800_11111_2 2 . -1 -1 . -1 . . . . . . . chr6 43474717 43475139 POLR1C S chr6_43806448_43806693_11111_1 1 . -1 -1 . -1 . . . . . . . chr6 43737115 43739800 VEGFA S chr6_42907205_42907755_10111_3:chr6_43142412_43142543_10101_1:chr6_43258653_43258800_11010_2:chr6_43806448_43806693_11111_1:chr6_44079670_44079973_10000_3 5 chr6 43737486 43737487 CR084643 + 3 DFP rs833061 VEGFA Pterygium formation: association with TGAGTGAGTGTGTGCGTGTGGGGTTGAGGG[C/T]GTTGGAGCGGGGAGAAGGCCAGGGGTCACT 18434853 chr6 43737115 43739800 VEGFA S chr6_42907205_42907755_10111_3:chr6_43142412_43142543_10101_1:chr6_43258653_43258800_11010_2:chr6_43806448_43806693_11111_1:chr6_44079670_44079973_10000_3 5 chr6 43737830 43737831 CR022118 + 3 DFP rs1570360 VEGFA Prostate cancer: association with CGCAGAGCCCGGGCCCGAGCCGCGTGTGGA[G/A]GGGCTGAGGCTCGCCTGTCCCCGCCCCCCG 12067976 chr6 43737115 43739800 VEGFA S chr6_42907205_42907755_10111_3:chr6_43142412_43142543_10101_1:chr6_43258653_43258800_11010_2:chr6_43806448_43806693_11111_1:chr6_44079670_44079973_10000_3 5 chr6 43738350 43738351 CR021404 + 3 DFP rs2010963 VEGFA Diabetic retinopathy: association with GAGAGCGCGCGGGCGTGCGAGCAGCGAAAG[G/C]GACAGGGGCAAAGTGAGTGACCTGCTTTTG 11978667 chr6 43737115 43739800 VEGFA S chr6_42907205_42907755_10111_3:chr6_43142412_43142543_10101_1:chr6_43258653_43258800_11010_2:chr6_43806448_43806693_11111_1:chr6_44079670_44079973_10000_3 5 chr6 43738465 43738466 CI103232 + 6 DM NULL VEGFA Left ventricular outflow tract obstruction CAGTCGCGCTGACGGACAGACAGACAGACA[-/GACA]CCGCCCCCAGCCCCAGCTACCACCTCCTCC 20420808 chr6 43737115 43739800 VEGFA S chr6_42907205_42907755_10111_3:chr6_43142412_43142543_10101_1:chr6_43258653_43258800_11010_2:chr6_43806448_43806693_11111_1:chr6_44079670_44079973_10000_3 5 chr6 43738897 43738898 CM103230 + 1 DM NULL VEGFA Left ventricular outflow tract obstruction GCCTCGGGCCGGGGAGGAAGAGTAGCTCGC[C/T]GAGGCGCCGAGGAGAGCGGGCCGCCCCACA 20420808 chr6 43806292 43806693 VEGFA S chr6_43737880_43738495_11111_2:chr6_43739310_43739800_11111_2 2 . -1 -1 . -1 . . . . . . . chr6 43918802 43919042 VEGFA S chr6_43737880_43738495_11111_2:chr6_43739310_43739800_11111_2 2 . -1 -1 . -1 . . . . . . . chr6 44040725 44042788 ENSG00000231881 S chr6_44888704_44889180_10000_3:chr6_44889645_44889800_10010_1 2 . -1 -1 . -1 . . . . . . . chr6 44079600 44080000 VEGFA S chr6_43737880_43738495_11111_2:chr6_43739310_43739800_11111_2 2 . -1 -1 . -1 . . . . . . . chr6 44186193 44187742 SLC29A1 F chr6_44185977_44186085_10100_2 1 . -1 -1 . -1 . . . . . . . chr6 44186277 44186510 SLC29A1 F chr6_44186823_44187007_10101_1 1 . -1 -1 . -1 . . . . . . . chr6 44189000 44189645 SLC29A1 S chr6_44888704_44889180_10000_3:chr6_44889645_44889800_10010_1 2 . -1 -1 . -1 . . . . . . . chr6 44224257 44225709 SLC35B2 S chr6_43258653_43258800_11010_2:chr6_44079670_44079973_10000_3:chr6_44888704_44889180_10000_3:chr6_44889645_44889800_10010_1 4 . -1 -1 . -1 . . . . . . . chr6 44230828 44231731 NFKBIE F chr6_44233235_44233357_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 44888361 44889800 SLC29A1 S chr6_44189064_44189238_10110_1:chr6_44189626_44189645_10101_1 2 . -1 -1 . -1 . . . . . . . chr6 45344781 45346328 SUPT3H S chr6_44888704_44889180_10000_3:chr6_44889645_44889800_10010_1 2 . -1 -1 . -1 . . . . . . . chr6 46096116 46096332 ENPP4 F chr6_46097534_46097671_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 47040592 47040938 TNFRSF21 S chr6_47277613_47277768_11100_1 1 . -1 -1 . -1 . . . . . . . chr6 47041057 47042111 TNFRSF21 S chr6_47277613_47277768_11100_1 1 . -1 -1 . -1 . . . . . . . chr6 47062039 47062854 TNFRSF21 S chr6_47277613_47277768_11100_1 1 . -1 -1 . -1 . . . . . . . chr6 47103319 47104166 TNFRSF21 S chr6_47277613_47277768_11100_1 1 . -1 -1 . -1 . . . . . . . chr6 47155569 47156755 TNFRSF21 S chr6_47277613_47277768_11100_1 1 . -1 -1 . -1 . . . . . . . chr6 47276365 47277897 TNFRSF21 S chr6_47041057_47041341_10000_4:chr6_47103671_47103857_11010_1:chr6_47156356_47156604_10000_1 3 . -1 -1 . -1 . . . . . . . chr6 47599259 47599892 TNFRSF21 S chr6_47277613_47277768_11100_1 1 . -1 -1 . -1 . . . . . . . chr6 47756099 47756191 TNFRSF21 S chr6_47277613_47277768_11100_1 1 . -1 -1 . -1 . . . . . . . chr6 52098916 52099085 GSTA4 S chr6_52860329_52860487_11111_2 1 . -1 -1 . -1 . . . . . . . chr6 52098916 52099085 GSTA5 S chr6_52704332_52704398_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 52264865 52265766 GSTA4 S chr6_52860329_52860487_11111_2 1 . -1 -1 . -1 . . . . . . . chr6 52264865 52265766 GSTA5 S chr6_52704332_52704398_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 52439625 52439825 TRAM2 F chr6_52441104_52441261_11000_1 1 . -1 -1 . -1 . . . . . . . chr6 52455000 52455633 GSTA4 S chr6_52860329_52860487_11111_2 1 . -1 -1 . -1 . . . . . . . chr6 52455000 52455633 GSTA5 S chr6_52704332_52704398_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 52528579 52528673 ENSG00000216775 S chr6_52589500_52589506_10000_2:chr6_52590587_52590964_10000_4 2 . -1 -1 . -1 . . . . . . . chr6 52589500 52591014 GCLC S chr6_53409834_53409994_11010_1 1 . -1 -1 . -1 . . . . . . . chr6 52589500 52591014 GSTA4 S chr6_52860329_52860487_11111_2 1 . -1 -1 . -1 . . . . . . . chr6 52589500 52591014 GSTA5 S chr6_52704332_52704398_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 52704332 52704585 GSTA5 S chr6_52098916_52099040_11000_1:chr6_52455047_52455484_10000_2:chr6_52589500_52589506_10000_2:chr6_52590587_52590964_10000_4 4 . -1 -1 . -1 . . . . . . . chr6 52859339 52860487 GSTA4 S chr6_52098916_52099040_11000_1:chr6_52455047_52455484_10000_2:chr6_52589500_52589506_10000_2:chr6_52590587_52590964_10000_4:chr6_53171371_53171886_10011_3 5 . -1 -1 . -1 . . . . . . . chr6 52860800 52861561 GSTA5 S chr6_52704332_52704398_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 52861681 52861914 GSTA5 S chr6_52704332_52704398_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 52926063 52926965 ICK S chr6_52589500_52589506_10000_2:chr6_52590587_52590964_10000_4:chr6_53171371_53171886_10011_3 3 . -1 -1 . -1 . . . . . . . chr6 53171229 53172200 GSTA4 S chr6_52860329_52860487_11111_2 1 . -1 -1 . -1 . . . . . . . chr6 53357600 53357837 GSTA4 S chr6_52860329_52860487_11111_2 1 . -1 -1 . -1 . . . . . . . chr6 53357600 53357837 GSTA5 S chr6_52704332_52704398_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 53357980 53358600 GSTA4 S chr6_52860329_52860487_11111_2 1 . -1 -1 . -1 . . . . . . . chr6 53357980 53358600 GSTA5 S chr6_52704332_52704398_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 53408844 53410157 GCLC S chr6_52589500_52589506_10000_2:chr6_52590587_52590964_10000_4 2 chr6 53410037 53410038 CR036047 - 3 DFP rs17883901 GCLC Myocardial infarction: increased risk: association CCCCTTCTCGCGAGCTGCTCCCCTCAACTG[C/T]GACCCAATCACCCTTGCACACGCCTCCTGA 12598062 chr6 53409426 53413267 GCLC F chr6_53412515_53413258_11010_2 1 chr6 53410037 53410038 CR036047 - 3 DFP rs17883901 GCLC Myocardial infarction: increased risk: association CCCCTTCTCGCGAGCTGCTCCCCTCAACTG[C/T]GACCCAATCACCCTTGCACACGCCTCCTGA 12598062 chr6 53412768 53413364 GCLC F chr6_53409834_53409994_11010_1:chr6_53412127_53412236_10000_1:chr6_53412515_53413258_11010_2 3 . -1 -1 . -1 . . . . . . . chr6 53593290 53593507 GSTA4 S chr6_52860329_52860487_11111_2 1 . -1 -1 . -1 . . . . . . . chr6 53593290 53593507 GSTA5 S chr6_52704332_52704398_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 53660581 53660848 LRRC1 F chr6_53659688_53659802_11100_1 1 . -1 -1 . -1 . . . . . . . chr6 64063173 64063347 PTP4A1 S chr6_64281532_64282494_11010_4:chr6_64283428_64283542_11010_1:chr6_64283873_64283974_10000_1:chr6_64284316_64284457_11010_1 4 . -1 -1 . -1 . . . . . . . chr6 64161917 64162388 PTP4A1 S chr6_64281532_64282494_11010_4:chr6_64283428_64283542_11010_1:chr6_64283873_64283974_10000_1:chr6_64284316_64284457_11010_1 4 . -1 -1 . -1 . . . . . . . chr6 64168059 64169196 PTP4A1 S chr6_64281532_64282494_11010_4:chr6_64283428_64283542_11010_1:chr6_64283873_64283974_10000_1:chr6_64284316_64284457_11010_1 4 . -1 -1 . -1 . . . . . . . chr6 64219548 64221074 PTP4A1 S chr6_64281532_64282494_11010_4:chr6_64283428_64283542_11010_1:chr6_64283873_64283974_10000_1:chr6_64284316_64284457_11010_1 4 . -1 -1 . -1 . . . . . . . chr6 64223933 64225400 PHF3 S chr6_64345577_64345760_11011_2:chr6_64346075_64346335_11010_2 2 . -1 -1 . -1 . . . . . . . chr6 64223933 64225400 PTP4A1 S chr6_64281532_64282494_11010_4:chr6_64283428_64283542_11010_1:chr6_64283873_64283974_10000_1:chr6_64284316_64284457_11010_1 4 . -1 -1 . -1 . . . . . . . chr6 64236929 64238765 PTP4A1 S chr6_64281532_64282494_11010_4:chr6_64283428_64283542_11010_1:chr6_64283873_64283974_10000_1:chr6_64284316_64284457_11010_1 4 . -1 -1 . -1 . . . . . . . chr6 64281532 64284538 PTP4A1 S chr6_64162102_64162388_10000_4:chr6_64168517_64168968_11111_4:chr6_64219713_64219834_10111_1:chr6_64219999_64220333_11010_4:chr6_64223987_64225064_11010_4:chr6_64237640_64237872_11101_2 6 . -1 -1 . -1 . . . . . . . chr6 64345473 64346908 PHF3 S chr6_64223987_64225064_11010_4 1 . -1 -1 . -1 . . . . . . . chr6 75911376 75911573 COL12A1 F chr6_75914002_75914190_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 75914221 75916123 COL12A1 F chr6_75914002_75914190_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 88408243 88408692 AKIRIN2 F chr6_88410149_88410951_11111_3:chr6_88411768_88412022_11111_3 2 . -1 -1 . -1 . . . . . . . chr6 90059850 90060767 UBE2J1 F chr6_90061120_90061346_10100_1:chr6_90062443_90062768_11110_2 2 . -1 -1 . -1 . . . . . . . chr6 90061317 90063119 UBE2J1 F chr6_90061123_90061346_10100_1 1 . -1 -1 . -1 . . . . . . . chr6 90061423 90061611 UBE2J1 F chr6_90061317_90061346_10100_1:chr6_90062443_90062768_11110_2 2 . -1 -1 . -1 . . . . . . . chr6 91004075 91004656 BACH2 F chr6_91004165_91004208_11111_2:chr6_91004165_91004208_11111_2:chr6_91006521_91006682_11101_2:chr6_91006521_91006682_11101_2 4 . -1 -1 . -1 . . . . . . . chr6 91004165 91007062 BACH2 F chr6_91003895_91004208_11111_2 1 . -1 -1 . -1 . . . . . . . chr6 91004165 91007127 BACH2 F chr6_91003895_91004208_11111_2 1 . -1 -1 . -1 . . . . . . . chr6 91004830 91005121 BACH2 F chr6_91006521_91006682_11101_2:chr6_91006521_91006682_11101_2 2 . -1 -1 . -1 . . . . . . . chr6 108141724 108146021 SCML4 F chr6_108142092_108142285_11000_1 1 . -1 -1 . -1 . . . . . . . chr6 108141852 108141997 SCML4 F chr6_108142092_108142285_11000_1:chr6_108143977_108144097_10000_1:chr6_108145237_108145470_11000_3:chr6_108145798_108145934_11000_1 4 . -1 -1 . -1 . . . . . . . chr6 108143402 108146021 SCML4 F chr6_108143977_108144027_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 108143478 108143727 SCML4 F chr6_108143977_108144097_10000_1:chr6_108145237_108145470_11000_3:chr6_108145798_108145934_11000_1 3 . -1 -1 . -1 . . . . . . . chr6 108144182 108146021 SCML4 F chr6_108143977_108144097_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 108144215 108144549 SCML4 F chr6_108145237_108145470_11000_3:chr6_108145798_108145934_11000_1 2 . -1 -1 . -1 . . . . . . . chr6 108879095 108881526 FOXO3 F chr6_108879118_108879290_11100_1:chr6_108879674_108879727_11110_3 2 . -1 -1 . -1 . . . . . . . chr6 108879164 108879427 FOXO3 F chr6_108879118_108879290_11100_1:chr6_108879674_108879867_11110_3 2 . -1 -1 . -1 . . . . . . . chr6 108879521 108879931 FOXO3 F chr6_108879674_108879867_11110_3:chr6_108879674_108879867_11110_3:chr6_108882014_108882187_11100_1 3 . -1 -1 . -1 . . . . . . . chr6 108879526 108881526 FOXO3 F chr6_108879221_108879290_11100_1:chr6_108879674_108879867_11110_3 2 . -1 -1 . -1 . . . . . . . chr6 108879526 108882569 FOXO3 F chr6_108879221_108879290_11100_1:chr6_108879674_108879867_11110_3 2 . -1 -1 . -1 . . . . . . . chr6 108880525 108884308 FOXO3 F chr6_108883447_108883632_11101_4:chr6_108883877_108884100_11111_2 2 . -1 -1 . -1 . . . . . . . chr6 108881568 108884308 FOXO3 F chr6_108883447_108883632_11101_4:chr6_108883877_108884100_11111_2 2 . -1 -1 . -1 . . . . . . . chr6 108883670 108884545 FOXO3 F chr6_108882014_108882187_11100_1:chr6_108882014_108882187_11100_1:chr6_108883447_108883632_11101_4:chr6_108883447_108883632_11101_4:chr6_108883877_108884100_11111_2:chr6_108883877_108884100_11111_2 6 . -1 -1 . -1 . . . . . . . chr6 109805021 109805195 ZBTB24 F chr6_109803939_109804131_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 110499942 110500385 WASF1 S chr6_111002752_111002967_10100_1 1 . -1 -1 . -1 . . . . . . . chr6 110502951 110503352 CDC40 F chr6_110501123_110501676_11110_3 1 . -1 -1 . -1 . . . . . . . chr6 110886800 110887200 KIAA1919 S chr6_111580474_111580713_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 111002630 111003640 KIAA1919 S chr6_111580474_111580713_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 111580179 111581039 KIAA1919 S chr6_110887006_110887200_11000_2:chr6_111002752_111002967_10100_1 2 . -1 -1 . -1 . . . . . . . chr6 111925507 111925888 TRAF3IP2 F chr6_111926854_111926981_11111_1 1 . -1 -1 . -1 . . . . . . . chr6 112192236 112192610 FYN F chr6_112194510_112194718_10100_1 1 . -1 -1 . -1 . . . . . . . chr6 119029991 119030657 C6orf204 F chr6_119030363_119030653_10100_3 1 . -1 -1 . -1 . . . . . . . chr6 119030124 119031738 C6orf204 F chr6_119030363_119030653_10100_3 1 . -1 -1 . -1 . . . . . . . chr6 119214185 119215741 ASF1A F chr6_119214636_119214795_11111_3 1 . -1 -1 . -1 . . . . . . . chr6 119214275 119214495 ASF1A F chr6_119214636_119215506_11111_3 1 . -1 -1 . -1 . . . . . . . chr6 123109470 123112362 SMPDL3A F chr6_123111979_123112254_11100_3 1 . -1 -1 . -1 . . . . . . . chr6 123111983 123112340 SMPDL3A F chr6_123110237_123110456_11100_1:chr6_123110681_123110990_11100_2:chr6_123111979_123112254_11100_3 3 . -1 -1 . -1 . . . . . . . chr6 126067944 126071232 HEY2 F chr6_126068072_126068275_11000_2 1 . -1 -1 . -1 . . . . . . . chr6 126068034 126068254 HEY2 F chr6_126068072_126068275_11000_2:chr6_126068797_126069151_11000_1:chr6_126069414_126069581_11000_1:chr6_126070297_126070584_11100_3 4 . -1 -1 . -1 . . . . . . . chr6 126111408 126113146 NCOA7 F chr6_126112569_126112920_10010_1 1 . -1 -1 . -1 . . . . . . . chr6 126112858 126113033 NCOA7 F chr6_126112569_126112920_10010_1 1 . -1 -1 . -1 . . . . . . . chr6 126241150 126241321 NCOA7 F chr6_126240147_126240346_11010_3 1 . -1 -1 . -1 . . . . . . . chr6 128840669 128840970 PTPRK F chr6_128841673_128841823_11101_2:chr6_128841673_128841823_11101_2 2 . -1 -1 . -1 . . . . . . . chr6 130030425 130030727 ARHGAP18 F chr6_130031376_130031531_11100_1 1 . -1 -1 . -1 . . . . . . . chr6 130339227 130342536 L3MBTL3 F chr6_130342213_130342499_11010_2 1 . -1 -1 . -1 . . . . . . . chr6 130342212 130342458 L3MBTL3 F chr6_130342213_130342499_11010_2 1 . -1 -1 . -1 . . . . . . . chr6 131136156 131137621 MED23 S chr6_131948859_131949087_11101_1:chr6_131949260_131949598_11101_1 2 . -1 -1 . -1 . . . . . . . chr6 131136156 131137621 SMLR1 S chr6_131147800_131147803_10100_2:chr6_131148325_131149067_11100_1 2 . -1 -1 . -1 . . . . . . . chr6 131147800 131149296 SMLR1 S chr6_131136593_131137162_11100_4:chr6_131184631_131185016_10000_4:chr6_131185633_131185787_10000_2 3 . -1 -1 . -1 . . . . . . . chr6 131184285 131185871 MED23 S chr6_131948859_131949087_11101_1:chr6_131949260_131949598_11101_1 2 . -1 -1 . -1 . . . . . . . chr6 131184285 131185871 SMLR1 S chr6_131147800_131147803_10100_2:chr6_131148325_131149067_11100_1 2 . -1 -1 . -1 . . . . . . . chr6 131386975 131387183 EPB41L2 F chr6_131384540_131384677_11000_1 1 . -1 -1 . -1 . . . . . . . chr6 131841021 131841293 MED23 S chr6_131948859_131949087_11101_1:chr6_131949260_131949598_11101_1 2 . -1 -1 . -1 . . . . . . . chr6 131948859 131949716 MED23 S chr6_131136593_131137162_11100_4:chr6_131184631_131185016_10000_4:chr6_131185633_131185787_10000_2:chr6_131841021_131841047_11000_2:chr6_132259289_132259400_10000_3:chr6_132302133_132302353_11000_4 6 . -1 -1 . -1 . . . . . . . chr6 132075632 132077013 MED23 S chr6_131948859_131949087_11101_1:chr6_131949260_131949598_11101_1 2 . -1 -1 . -1 . . . . . . . chr6 132128669 132129761 ENPP1 S chr6_131184631_131185016_10000_4:chr6_131185633_131185787_10000_2:chr6_132302133_132302353_11000_4 3 . -1 -1 . -1 . . . . . . . chr6 132236172 132236448 MED23 S chr6_131948859_131949087_11101_1:chr6_131949260_131949598_11101_1 2 . -1 -1 . -1 . . . . . . . chr6 132259000 132259400 CTGF S chr6_132272480_132272721_11000_3 1 . -1 -1 . -1 . . . . . . . chr6 132259000 132259400 MED23 S chr6_131948859_131949087_11101_1:chr6_131949260_131949598_11101_1 2 . -1 -1 . -1 . . . . . . . chr6 132268082 132268800 CTGF S chr6_132272480_132272721_11000_3 1 . -1 -1 . -1 . . . . . . . chr6 132271800 132273020 CTGF S chr6_132259289_132259400_10000_3:chr6_132302133_132302353_11000_4 2 chr6 132272535 132272536 CR103219 - 3 DFP NULL CTGF Nephropathy: in type 1 diabetes: association with GAGCCGCGGCCGCCCGGAGCGTATAAAAGC[C/G]TCGGGCCGCCCGCCCCAAACTCACACAACA 20522428 chr6 132301332 132302600 CTGF S chr6_132272480_132272721_11000_3 1 . -1 -1 . -1 . . . . . . . chr6 132301332 132302600 MED23 S chr6_131948859_131949087_11101_1:chr6_131949260_131949598_11101_1 2 . -1 -1 . -1 . . . . . . . chr6 132301332 132302600 RPS12 S chr6_133134293_133134639_11010_2:chr6_133135402_133135662_11111_1 2 . -1 -1 . -1 . . . . . . . chr6 132301332 132302600 SLC18B1 S chr6_133120218_133120369_11111_2 1 . -1 -1 . -1 . . . . . . . chr6 132600808 132601063 MED23 S chr6_131948859_131949087_11101_1:chr6_131949260_131949598_11101_1 2 . -1 -1 . -1 . . . . . . . chr6 132832298 132834837 STX7 F chr6_132832779_132832880_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 132832416 132832580 STX7 F chr6_132832779_132832931_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 132851400 132851689 MED23 S chr6_131948859_131949087_11101_1:chr6_131949260_131949598_11101_1 2 . -1 -1 . -1 . . . . . . . chr6 133077551 133077890 VNN2 F chr6_133078913_133079054_10000_1:chr6_133078913_133079054_10000_1 2 . -1 -1 . -1 . . . . . . . chr6 133120010 133120369 SLC18B1 S chr6_132302133_132302353_11000_4 1 . -1 -1 . -1 . . . . . . . chr6 133134260 133136573 RPS12 S chr6_132302133_132302353_11000_4 1 . -1 -1 . -1 . . . . . . . chr6 134495161 134495376 SGK1 S chr6_134519301_134519532_10001_2 1 . -1 -1 . -1 . . . . . . . chr6 135501952 135504460 MYB F chr6_135503598_135503661_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 135503898 135504621 MYB F chr6_135503480_135503661_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 136172333 136174823 PDE7B F chr6_136174468_136174669_10000_1 1 chr6 136172487 136172488 CR1110846 + 3 FP rs77932410 PDE7B Reduced promoter activity ATTTAGCTCAGGGTTTTATATTTAATTTTT[G/A]TTTTGTTTTGCTTTTGTTTTTATACACCTC 21796143 chr6 136174498 136174747 PDE7B F chr6_136172670_136172925_10100_2:chr6_136173590_136173799_10000_1:chr6_136174468_136174669_10000_1 3 . -1 -1 . -1 . . . . . . . chr6 137109292 137114156 MAP3K5 F chr6_137109099_137109342_10100_2 1 . -1 -1 . -1 . . . . . . . chr6 137109342 137109643 MAP3K5 F chr6_137109292_137109342_10100_2:chr6_137112538_137112772_10110_4:chr6_137113452_137113891_10111_1 3 . -1 -1 . -1 . . . . . . . chr6 137543604 137543841 IFNGR1 F chr6_137540482_137541269_11000_2 1 . -1 -1 . -1 . . . . . . . chr6 137673056 137675800 PERP S chr6_138428521_138428702_11000_1:chr6_138428901_138429134_11010_1 2 . -1 -1 . -1 . . . . . . . chr6 137673056 137675800 TNFAIP3 S chr6_138188010_138188159_11111_2:chr6_138188244_138188644_11110_1 2 . -1 -1 . -1 . . . . . . . chr6 138018317 138019090 HEBP2 S chr6_138725195_138725401_11000_2 1 . -1 -1 . -1 . . . . . . . chr6 138018317 138019090 TNFAIP3 S chr6_138188010_138188159_11111_2:chr6_138188244_138188644_11110_1 2 . -1 -1 . -1 . . . . . . . chr6 138026447 138026575 ENSG00000220412 S chr6_138029134_138029387_10110_2 1 . -1 -1 . -1 . . . . . . . chr6 138028400 138029621 TNFAIP3 S chr6_138188010_138188159_11111_2:chr6_138188244_138188644_11110_1 2 . -1 -1 . -1 . . . . . . . chr6 138043623 138045530 TNFAIP3 S chr6_138188010_138188159_11111_2:chr6_138188244_138188644_11110_1 2 . -1 -1 . -1 . . . . . . . chr6 138184436 138184726 TNFAIP3 F chr6_138188010_138188159_11111_2:chr6_138188244_138188644_11110_1 2 . -1 -1 . -1 . . . . . . . chr6 138187615 138189518 TNFAIP3 S chr6_137673119_137673350_10000_1:chr6_137673955_137674259_11110_2:chr6_137674999_137675342_11001_3:chr6_138029134_138029387_10110_2:chr6_138044428_138044772_11010_2:chr6_138045089_138045530_11010_4:chr6_138871482_138871786_11110_4 7 . -1 -1 . -1 . . . . . . . chr6 138194329 138194400 TNFAIP3 S chr6_138194443_138194910_11111_4 1 . -1 -1 . -1 . . . . . . . chr6 138426472 138429160 PERP F chr6_138426275_138426791_10000_3:chr6_138427043_138427070_10000_1 2 . -1 -1 . -1 . . . . . . . chr6 138426575 138426770 PERP F chr6_138426472_138426791_10000_3:chr6_138427043_138427163_10000_1:chr6_138428521_138428702_11000_1:chr6_138428901_138429160_11010_1 4 . -1 -1 . -1 . . . . . . . chr6 138427113 138429160 PERP F chr6_138427043_138427163_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 138427134 138427492 PERP F chr6_138427113_138427163_10000_1:chr6_138428521_138428702_11000_1:chr6_138428901_138429160_11010_1 3 . -1 -1 . -1 . . . . . . . chr6 138428057 138429134 PERP S chr6_137673119_137673350_10000_1:chr6_137673955_137674259_11110_2:chr6_137674999_137675342_11001_3:chr6_138871482_138871786_11110_4 4 . -1 -1 . -1 . . . . . . . chr6 138820078 138821597 NHSL1 F chr6_138821354_138821507_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 138821349 138821443 NHSL1 F chr6_138820482_138820807_11000_1:chr6_138821354_138821507_10000_1 2 . -1 -1 . -1 . . . . . . . chr6 138871171 138872244 CITED2 S chr6_139694257_139694437_11111_1:chr6_139695691_139695887_11111_2:chr6_139696526_139697305_11111_3 3 . -1 -1 . -1 . . . . . . . chr6 138871171 138872244 PERP S chr6_138428521_138428702_11000_1:chr6_138428901_138429134_11010_1 2 . -1 -1 . -1 . . . . . . . chr6 138871171 138872244 REPS1 S chr6_139309363_139309525_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 138871171 138872244 TNFAIP3 S chr6_138188010_138188159_11111_2:chr6_138188244_138188644_11110_1 2 . -1 -1 . -1 . . . . . . . chr6 138890859 138891324 NHSL1 F chr6_138893445_138893902_11110_4 1 . -1 -1 . -1 . . . . . . . chr6 139308366 139309693 REPS1 S chr6_138871482_138871786_11110_4 1 . -1 -1 . -1 . . . . . . . chr6 139351818 139352158 C6orf115 F chr6_139350202_139350415_10000_1:chr6_139350790_139351260_10000_3 2 . -1 -1 . -1 . . . . . . . chr6 139694257 139697333 CITED2 S chr6_138871482_138871786_11110_4 1 chr6 139694478 139694479 CM125585 - 1 DM? rs146180399 CITED2 Premature ovarian failure AGCGGCGGCGGCAGCGGCAGCGGCAACATG[C/A]CCGCCTCCGTGGCCCACGTCCCCGCTGCAA 22709740 chr6 139694257 139697333 CITED2 S chr6_138871482_138871786_11110_4 1 chr6 139694484 139694489 CD056144 - 5 DM NULL CITED2 Congenital heart defects GCAGCAGCAACAGCGGCGGCGGCAGCGGCA[GCGGCA/-]ACATGCCCGCCTCCGTGGCCCACGTCCCCG 16287139 chr6 139694257 139697333 CITED2 S chr6_138871482_138871786_11110_4 1 chr6 139694503 139694508 CD108235 - 5 DM NULL CITED2 Congenital heart defects AGCTCGGGCGGCGGCGCGGGCAGCAGCAAC[AGCGGC/-]GGCGGCAGCGGCAGCGGCAACATGCCCGCC 20654020 chr6 139694257 139697333 CITED2 S chr6_138871482_138871786_11110_4 1 chr6 139694508 139694509 CM108234 - 1 DM NULL CITED2 Congenital heart defects AGCTCGGGCGGCGGCGCGGGCAGCAGCAAC[A/G]GCGGCGGCGGCAGCGGCAGCGGCAACATGC 20654020 chr6 139694257 139697333 CITED2 S chr6_138871482_138871786_11110_4 1 chr6 139694532 139694533 CM108233 - 1 DM NULL CITED2 Congenital heart defects AGCACCCCCGGCGGCTCTGGCAGCAGCTCG[G/A]GCGGCGGCGCGGGCAGCAGCAACAGCGGCG 20654020 chr6 139694257 139697333 CITED2 S chr6_138871482_138871786_11110_4 1 chr6 139694585 139694586 CM129917 - 1 DM? NULL CITED2 Congenital heart defects GCAACCCCAAGCACAGCGGCGGCAGCAGCA[C/A]CCCCGGCGGCTCGGGCGGCAGCAGCACCCC 23082118 chr6 139694257 139697333 CITED2 S chr6_138871482_138871786_11110_4 1 chr6 139694963 139694965 CD138404 - 5 DM NULL CITED2 Low HDL cholesterol CATGGGGCAGTTCCCGAGCCCCCATCACCA[CCA/-]GCAGCAGCAGCCCCAGCACGCCTTCAACGC 23685560 chr6 142468054 142468810 VTA1 S chr6_142652715_142652800_10000_1:chr6_142696600_142696744_11010_3:chr6_143189159_143189443_11111_2 3 . -1 -1 . -1 . . . . . . . chr6 142617956 142619200 AIG1 S chr6_143380849_143382404_11111_4:chr6_143382716_143382916_11111_2 2 . -1 -1 . -1 . . . . . . . chr6 142617956 142619200 VTA1 S chr6_142468227_142468711_10010_2 1 . -1 -1 . -1 . . . . . . . chr6 142652000 142652800 VTA1 S chr6_142468227_142468711_10010_2 1 . -1 -1 . -1 . . . . . . . chr6 142696600 142697726 AIG1 S chr6_143380849_143382404_11111_4:chr6_143382716_143382916_11111_2 2 . -1 -1 . -1 . . . . . . . chr6 142696600 142697726 VTA1 S chr6_142468227_142468711_10010_2 1 . -1 -1 . -1 . . . . . . . chr6 143189000 143190391 VTA1 S chr6_142468227_142468711_10010_2 1 . -1 -1 . -1 . . . . . . . chr6 143380799 143382916 AIG1 S chr6_142696600_142696744_11010_3:chr6_143730545_143730712_10000_1 2 . -1 -1 . -1 . . . . . . . chr6 143730346 143731120 23758 S chr6_144537339_144537549_11000_1 1 . -1 -1 . -1 . . . . . . . chr6 143730346 143731120 AIG1 S chr6_143380849_143382404_11111_4:chr6_143382716_143382916_11111_2 2 . -1 -1 . -1 . . . . . . . chr6 143770817 143770943 ADAT2 F chr6_143771685_143772341_11111_3 1 . -1 -1 . -1 . . . . . . . chr6 144473249 144474108 STX11 F chr6_144471314_144471434_10000_1:chr6_144472623_144472818_11000_2 2 . -1 -1 . -1 . . . . . . . chr6 144474457 144475387 STX11 F chr6_144471314_144471434_10000_1:chr6_144472623_144472818_11000_2 2 . -1 -1 . -1 . . . . . . . chr6 144536698 144538032 23758 S chr6_143730545_143730712_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 146864327 146867952 RAB32 F chr6_146867691_146867884_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 146866760 146867250 RAB32 F chr6_146864727_146864866_10000_1:chr6_146865057_146865371_10000_1 2 . -1 -1 . -1 . . . . . . . chr6 146867560 146867942 RAB32 F chr6_146864727_146864866_10000_1:chr6_146865057_146865371_10000_1:chr6_146867691_146867884_10000_1 3 . -1 -1 . -1 . . . . . . . chr6 147829327 147831407 SAMD5 F chr6_147831076_147831345_10000_1 1 . -1 -1 . -1 . . . . . . . chr6 147831138 147831275 SAMD5 F chr6_147829607_147829811_10000_1:chr6_147831076_147831345_10000_1 2 . -1 -1 . -1 . . . . . . . chr6 150286198 150286452 ULBP1 F chr6_150284838_150285086_11000_1 1 . -1 -1 . -1 . . . . . . . chr6 151709507 151709685 ZBTB2 F chr6_151710775_151710897_11100_1:chr6_151711456_151711870_10101_2:chr6_151712982_151713121_11101_1 3 . -1 -1 . -1 . . . . . . . chr6 151710595 151713333 ZBTB2 S chr6_151762679_151762854_11000_1:chr6_151990066_151990200_11010_2 2 . -1 -1 . -1 . . . . . . . chr6 151762304 151763000 ZBTB2 S chr6_151710775_151710897_11100_1:chr6_151711456_151711870_10101_2:chr6_151712982_151713121_11101_1 3 . -1 -1 . -1 . . . . . . . chr6 151989696 151990200 SYNE1 S chr6_152622686_152622912_11101_3 1 . -1 -1 . -1 . . . . . . . chr6 151989696 151990200 ZBTB2 S chr6_151710775_151710897_11100_1:chr6_151711456_151711870_10101_2:chr6_151712982_151713121_11101_1 3 . -1 -1 . -1 . . . . . . . chr6 152622686 152623548 SYNE1 S chr6_151990066_151990200_11010_2 1 . -1 -1 . -1 . . . . . . . chr6 154830363 154832253 CNKSR3 F chr6_154830230_154830378_11000_1 1 . -1 -1 . -1 . . . . . . . chr6 154830409 154830718 CNKSR3 F chr6_154830363_154830378_11000_1:chr6_154831696_154831996_11111_2 2 . -1 -1 . -1 . . . . . . . chr6 157098563 157102025 ARID1B F chr6_157101266_157101757_00000_2 1 chr6 157100177 157100178 CI121900 + 6 DM NULL ARID1B Intellectual disability CCGCGGGGTACGGGGTGCTGAGCTCCCCCC[-/C]GGCAGCAGGGCGGCGGCATGATGATGGGCC 22405089 chr6 157098563 157102025 ARID1B F chr6_157101266_157101757_00000_2 1 chr6 157100285 157100286 CI1310788 + 6 DM NULL ARID1B Coffin-Siris syndrome CGGCGGGGGGCTTCCAGCGCTTCGCCGGCC[-/C]AGAACCAGCACCCGTCGGGGGCCACCCCGA 23929686 chr6 157098563 157102025 ARID1B F chr6_157101266_157101757_00000_2 1 chr6 157100298 157100299 CI1310789 + 6 DM NULL ARID1B Coffin-Siris syndrome CCAGCGCTTCGCCGGCCAGAACCAGCACCC[-/C]GTCGGGGGCCACCCCGACCCTCAATCAGCT 23929686 chr6 157098563 157102025 ARID1B F chr6_157101266_157101757_00000_2 1 chr6 157100322 157100323 CI1310790 + 6 DM NULL ARID1B Coffin-Siris syndrome GCACCCGTCGGGGGCCACCCCGACCCTCAA[-/A]TCAGCTGCTCACCTCGCCCAGCCCCATGAT 23929686 chr6 157098563 157102025 ARID1B F chr6_157101266_157101757_00000_2 1 chr6 157100409 157100410 CD1310780 + 5 DM NULL ARID1B Coffin-Siris syndrome AGTACAGCAGCCCCAGCGCGCCGCCGCCGC[C/-]GCCGTCGCAGCCCCAGTCCCAGGCGGCGGC 23929686 chr6 157098563 157102025 ARID1B F chr6_157101266_157101757_00000_2 1 chr6 157100603 157100604 CI1311925 + 6 DM NULL ARID1B Coffin-Siris syndrome GCACCCCCGGACCGACCATGGGCAGATCCC[-/C]AGGTAACCCTCGCGCCAGCCGGGCCTGCTT 23906836 chr6 157098563 157102025 ARID1B F chr6_157101266_157101757_00000_2 1 chr6 157100606 157100607 CS1310774 + 2 DM NULL ARID1B Coffin-Siris syndrome ACCCCCGGACCGACCATGGGCAGATCCCAG[G/A]taaccctcgcgccagccgggcctgcttccg 23929686 chr6 157101566 157102083 ARID1B F chr6_157101160_157101757_00000_2 1 . -1 -1 . -1 . . . . . . . chr6 158402267 158404253 SYNJ2 S chr6_159220223_159220481_11000_2 1 . -1 -1 . -1 . . . . . . . chr6 158663154 158664007 SRP72P2 S chr6_159220223_159220481_11000_2 1 . -1 -1 . -1 . . . . . . . chr6 159220200 159220600 SOD2 S chr6_160112278_160112500_10010_3 1 . -1 -1 . -1 . . . . . . . chr6 159220200 159220600 SRP72P2 S chr6_158663652_158663975_10000_4 1 . -1 -1 . -1 . . . . . . . chr6 159220200 159220600 SYNJ2 S chr6_158403335_158403546_10000_2 1 . -1 -1 . -1 . . . . . . . chr6 160112278 160112500 SOD2 S chr6_159220223_159220481_11000_2 1 . -1 -1 . -1 . . . . . . . chr6 163601912 163602362 QKI S chr6_163837878_163838108_10000_2 1 . -1 -1 . -1 . . . . . . . chr6 163833338 163833600 QKI F chr6_163834985_163835259_10101_2 1 . -1 -1 . -1 . . . . . . . chr6 163837745 163838108 QKI S chr6_163601925_163602362_11000_3 1 . -1 -1 . -1 . . . . . . . chr6 166774800 166775171 FGFR1OP S chr6_167411310_167411428_10000_4 1 . -1 -1 . -1 . . . . . . . chr6 166774800 166775171 MPC1 S chr6_166796422_166796952_10010_1:chr6_166797544_166797662_10000_1 2 . -1 -1 . -1 . . . . . . . chr6 166774800 166775171 UNC93A S chr6_167682400_167682629_10000_3 1 . -1 -1 . -1 . . . . . . . chr6 166795190 166797662 MPC1 S chr6_166774800_166774931_11010_3 1 . -1 -1 . -1 . . . . . . . chr6 167038809 167038976 RPS6KA2 F chr6_167039755_167039928_11000_1:chr6_167040402_167040506_10000_1 2 . -1 -1 . -1 . . . . . . . chr6 167372859 167373027 RNASET2 F chr6_167370036_167370237_11010_1 1 . -1 -1 . -1 . . . . . . . chr6 167411310 167411692 FGFR1OP S chr6_166774800_166774931_11010_3:chr6_167811780_167812080_10000_2:chr6_168136200_168136473_11000_3 3 . -1 -1 . -1 . . . . . . . chr6 167533156 167533655 CCR6 F chr6_167536398_167536553_10000_2 1 . -1 -1 . -1 . . . . . . . chr6 167534229 167534357 CCR6 F chr6_167536398_167536553_10000_2 1 . -1 -1 . -1 . . . . . . . chr6 167534948 167535213 CCR6 F chr6_167536398_167536553_10000_2 1 . -1 -1 . -1 . . . . . . . chr6 167682400 167683014 UNC93A S chr6_166774800_166774931_11010_3 1 . -1 -1 . -1 . . . . . . . chr6 167811354 167812374 FGFR1OP S chr6_167411310_167411428_10000_4 1 . -1 -1 . -1 . . . . . . . chr6 168135600 168136777 FGFR1OP S chr6_167411310_167411428_10000_4 1 . -1 -1 . -1 . . . . . . . chr6 168143678 168143988 FGFR1OP S chr6_167411310_167411428_10000_4 1 . -1 -1 . -1 . . . . . . . chr7 191531 191871 FAM20C F chr7_192433_192614_10100_2:chr7_193054_193272_10111_1 2 . -1 -1 . -1 . . . . . . . chr7 771692 772513 GPER1 S chr7_1126719_1126958_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 771692 772513 INTS1 S chr7_1543972_1544155_11111_1 1 . -1 -1 . -1 . . . . . . . chr7 771692 772513 TMEM184A S chr7_1595087_1595223_11010_2:chr7_1595694_1596085_10101_2 2 . -1 -1 . -1 . . . . . . . chr7 1125303 1125884 GPER F chr7_1126719_1126943_10000_1:chr7_1126719_1126958_10000_1:chr7_1127642_1127784_10000_1 3 . -1 -1 . -1 . . . . . . . chr7 1126200 1127023 GPER1 S chr7_771872_772496_10000_2 1 . -1 -1 . -1 . . . . . . . chr7 1270215 1270604 UNCX F chr7_1272347_1272452_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 1543657 1544361 INTS1 S chr7_771872_772496_10000_2 1 . -1 -1 . -1 . . . . . . . chr7 1569867 1571587 MAFK F chr7_1571092_1571596_10111_1 1 . -1 -1 . -1 . . . . . . . chr7 1569867 1572138 MAFK F chr7_1571548_1571596_10111_1:chr7_1572261_1572326_11111_2 2 . -1 -1 . -1 . . . . . . . chr7 1569867 1572754 MAFK F chr7_1572261_1572719_11111_2 1 . -1 -1 . -1 . . . . . . . chr7 1571273 1571500 MAFK F chr7_1571092_1571587_10111_1 1 . -1 -1 . -1 . . . . . . . chr7 1571848 1572026 MAFK F chr7_1571092_1571596_10111_1 1 . -1 -1 . -1 . . . . . . . chr7 1572262 1572844 MAFK F chr7_1571092_1571596_10111_1:chr7_1572261_1572719_11111_2 2 . -1 -1 . -1 . . . . . . . chr7 1573524 1573718 MAFK F chr7_1571092_1571596_10111_1:chr7_1572261_1572719_11111_2 2 . -1 -1 . -1 . . . . . . . chr7 1594995 1596201 TMEM184A S chr7_771872_772496_10000_2 1 . -1 -1 . -1 . . . . . . . chr7 2351826 2352447 SNX8 F chr7_2354223_2354401_10100_1 1 . -1 -1 . -1 . . . . . . . chr7 2671102 2672962 TTYH3 F chr7_2672430_2672556_10100_1 1 . -1 -1 . -1 . . . . . . . chr7 2672306 2673216 TTYH3 F chr7_2671241_2671438_11110_1:chr7_2672430_2672556_10100_1 2 . -1 -1 . -1 . . . . . . . chr7 2674160 2674375 TTYH3 F chr7_2671241_2671438_11110_1:chr7_2672430_2672556_10100_1 2 . -1 -1 . -1 . . . . . . . chr7 4752200 4752777 ACTB S chr7_5569428_5569538_10000_1:chr7_5571537_5571753_10000_2 2 . -1 -1 . -1 . . . . . . . chr7 5568964 5571966 ACTB S chr7_4752361_4752562_11110_2 1 chr7 5569255 5569256 CM122509 - 1 DM rs281875331 ACTB Baraitser-Winter syndrome GATGATGATATCGCCGCGCTCGTCGTCGAC[A/G]ACGGCTCCGGCATGTGCAAGGCCGGCTTCG 22366783 chr7 5569731 5571785 ACTB F chr7_5571537_5571753_10000_2 1 . -1 -1 . -1 . . . . . . . chr7 5571351 5571818 ACTB F chr7_5571537_5571753_10000_2 1 . -1 -1 . -1 . . . . . . . chr7 5598306 5598656 ACTB S chr7_5908785_5908800_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 5908785 5908800 USP42 S chr7_6144114_6144467_11111_1 1 . -1 -1 . -1 . . . . . . . chr7 6096315 6096609 EIF2AK1 F chr7_6098257_6098466_11101_1:chr7_6098793_6099137_11110_2 2 . -1 -1 . -1 . . . . . . . chr7 6143809 6144774 USP42 S chr7_5908785_5908800_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 6144049 6145843 USP42 F chr7_6145390_6145654_11010_3 1 . -1 -1 . -1 . . . . . . . chr7 6145406 6145878 USP42 F chr7_6144114_6144467_11111_1:chr7_6145390_6145654_11010_3 2 . -1 -1 . -1 . . . . . . . chr7 6146147 6146526 USP42 S chr7_5908785_5908800_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 6556236 6556600 USP42 S chr7_6144114_6144467_11111_1 1 . -1 -1 . -1 . . . . . . . chr7 7216090 7217200 C1GALT1 S chr7_7222139_7222615_11110_1 1 . -1 -1 . -1 . . . . . . . chr7 7604061 7604281 MIOS F chr7_7606091_7606690_11111_2 1 . -1 -1 . -1 . . . . . . . chr7 7606115 7609022 MIOS F chr7_7608641_7608809_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 7608686 7608956 MIOS F chr7_7606115_7606690_11111_2:chr7_7608641_7608809_10000_1 2 . -1 -1 . -1 . . . . . . . chr7 22500135 22500368 GPNMB S chr7_23312827_23312987_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 22762844 22767266 IL6 F chr7_22763410_22763543_11000_1 1 chr7 22766221 22766222 CR016149 + 3 FP rs1800797 IL6 Altered transcriptional activity CGCCTTGAAGTAACTGCACGAAATTTGAGG[A/G]TGGCCAGGCAGTTCTACAACAGCCGCTCAC 11704800 chr7 22762844 22767266 IL6 F chr7_22763410_22763543_11000_1 1 chr7 22766246 22766247 CR030325 + 3 DFP rs1800796 IL6 Impaired cognitive development: association with TGAGGATGGCCAGGCAGTTCTACAACAGCC[G/C]CTCACAGGGAGAGCCAGAACACAGAAGAAC 15985687 chr7 22762844 22767266 IL6 F chr7_22763410_22763543_11000_1 1 chr7 22766542 22766543 CR109943 + 3 DFP NULL IL6 Systemic lupus erythematosus: association with CTTTGTCAAGACATGCCAAAGTGCTGAGTC[A/C]CTAATAAAAGAAAAAAAGAAAGTAAAGGAA 20843912 chr7 22762844 22767266 IL6 F chr7_22763410_22763543_11000_1 1 chr7 22766645 22766646 CR983402 + 3 DFP rs1800795 IL6 Juvenile arthritis: lower risk: association GCTGCACTTTTCCCCCTAGTTGTGTCTTGC[G/C]ATGCTAAAGGACGTCACATTGCACAATCTT 9769329 chr7 22762844 22767266 IL6 F chr7_22763410_22763543_11000_1 1 chr7 22767138 22767139 CI1313107 + 6 DM NULL IL6 Cerebral palsy GCCTGCTGCCTTCCCTGCCCCAGTACCCCC[-/C]AGGAGAAGATTCCAAAGATGTAGCCGCCCC 24314052 chr7 22762845 22763243 IL6 F chr7_22763410_22763613_11000_1:chr7_22765352_22765562_11000_1:chr7_22765979_22766112_11000_1 3 . -1 -1 . -1 . . . . . . . chr7 22825549 22826149 GPNMB S chr7_23312827_23312987_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 22826241 22826611 GPNMB S chr7_23312827_23312987_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 23312762 23313045 GPNMB S chr7_22826115_22826149_10000_1:chr7_22826241_22826290_10000_1 2 . -1 -1 . -1 . . . . . . . chr7 23509494 23511150 IGF2BP3 F chr7_23510376_23510645_00000_1 1 . -1 -1 . -1 . . . . . . . chr7 23509494 23514300 IGF2BP3 F chr7_23513861_23514085_00000_2 1 . -1 -1 . -1 . . . . . . . chr7 23510676 23511223 IGF2BP3 F chr7_23510371_23510645_00000_1 1 . -1 -1 . -1 . . . . . . . chr7 23513815 23514383 IGF2BP3 F chr7_23510371_23510645_00000_1:chr7_23513861_23514085_00000_2 2 . -1 -1 . -1 . . . . . . . chr7 24795767 24795828 DFNA5 F chr7_24796747_24797583_11100_2:chr7_24796747_24797611_11100_2 2 . -1 -1 . -1 . . . . . . . chr7 26333342 26333901 SNX10 F chr7_26332551_26332703_10000_2 1 . -1 -1 . -1 . . . . . . . chr7 26416696 26416847 ENSG00000225792 S chr7_27176184_27176187_11000_1 1 . -1 -1 . -1 . . . . . . . chr7 29232509 29232972 CHN2 F chr7_29234346_29234456_11111_1 1 . -1 -1 . -1 . . . . . . . chr7 29233620 29236292 CHN2 F chr7_29235495_29235528_10100_1 1 . -1 -1 . -1 . . . . . . . chr7 29235795 29236387 CHN2 F chr7_29234346_29234456_11111_1:chr7_29235422_29235528_10100_1 2 . -1 -1 . -1 . . . . . . . chr7 37023801 37025217 ELMO1 F chr7_37023892_37024057_10000_2 1 . -1 -1 . -1 . . . . . . . chr7 37023926 37024076 ELMO1 F chr7_37023892_37024057_10000_2 1 . -1 -1 . -1 . . . . . . . chr7 37392771 37394725 ELMO1 F chr7_37394293_37394604_11100_2 1 . -1 -1 . -1 . . . . . . . chr7 37394321 37394728 ELMO1 F chr7_37394293_37394604_11100_2 1 . -1 -1 . -1 . . . . . . . chr7 37487081 37487482 ELMO1 F chr7_37487257_37487415_10000_1:chr7_37487257_37487415_10000_1 2 . -1 -1 . -1 . . . . . . . chr7 37487081 37489055 ELMO1 F chr7_37487257_37487415_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 37487081 37489395 ELMO1 F chr7_37487257_37487415_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 43622191 43625533 STK17A F chr7_43625205_43625414_11010_1 1 . -1 -1 . -1 . . . . . . . chr7 43625293 43625372 STK17A F chr7_43622362_43622484_11000_1:chr7_43623961_43624123_11010_2:chr7_43625205_43625414_11010_1 3 . -1 -1 . -1 . . . . . . . chr7 43625905 43626316 STK17A F chr7_43622362_43622484_11000_1:chr7_43623961_43624123_11010_2:chr7_43625205_43625414_11010_1 3 . -1 -1 . -1 . . . . . . . chr7 43626451 43626626 STK17A F chr7_43622362_43622484_11000_1:chr7_43623961_43624123_11010_2:chr7_43625205_43625414_11010_1 3 . -1 -1 . -1 . . . . . . . chr7 45928899 45929352 IGFBP1 F chr7_45927763_45928072_11111_4 1 . -1 -1 . -1 . . . . . . . chr7 47619931 47622242 TNS3 F chr7_47619986_47620192_10100_2 1 . -1 -1 . -1 . . . . . . . chr7 47620098 47620164 TNS3 F chr7_47619986_47620192_10100_2:chr7_47621008_47621209_10101_2 2 . -1 -1 . -1 . . . . . . . chr7 48127053 48127182 UPP1 F chr7_48128080_48128625_11100_3:chr7_48128080_48128625_11100_3 2 . -1 -1 . -1 . . . . . . . chr7 51382954 51383359 COBL F chr7_51383099_51383498_11101_2:chr7_51384026_51384216_11100_2:chr7_51384740_51385015_11100_1 3 . -1 -1 . -1 . . . . . . . chr7 51382956 51385015 COBL F chr7_51382654_51382678_11001_1:chr7_51383099_51383498_11101_2 2 . -1 -1 . -1 . . . . . . . chr7 55637465 55637727 VOPP1 F chr7_55639607_55639718_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 55637986 55638270 VOPP1 F chr7_55639607_55639718_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 55638699 55638887 VOPP1 F chr7_55639607_55639718_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 55641818 55642122 VOPP1 F chr7_55639699_55639718_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 56029737 56030120 GBAS F chr7_56032379_56032770_11000_1 1 . -1 -1 . -1 . . . . . . . chr7 66095598 66095867 KCTD7 F chr7_66093387_66093497_10000_1:chr7_66093813_66093923_10000_1 2 . -1 -1 . -1 . . . . . . . chr7 66205142 66206760 RABGEF1 F chr7_66206409_66206604_11000_1 1 . -1 -1 . -1 . . . . . . . chr7 66206459 66206659 RABGEF1 F chr7_66205448_66205677_11000_1:chr7_66206409_66206604_11000_1 2 . -1 -1 . -1 . . . . . . . chr7 72738189 72738446 ENSG00000077800 S chr7_73027124_73027481_11100_3:chr7_73027893_73028460_11100_3:chr7_73028822_73028940_11110_1 3 . -1 -1 . -1 . . . . . . . chr7 72935837 72937249 ENSG00000009954 S chr7_73027124_73027481_11100_3:chr7_73027893_73028460_11100_3:chr7_73028822_73028940_11110_1 3 . -1 -1 . -1 . . . . . . . chr7 72939749 72940060 BAZ1B F chr7_72936644_72936891_11111_2 1 . -1 -1 . -1 . . . . . . . chr7 72971215 72972502 ENSG00000106635 S chr7_73027124_73027481_11100_3:chr7_73027893_73028460_11100_3:chr7_73028822_73028940_11110_1 3 . -1 -1 . -1 . . . . . . . chr7 73026888 73029148 ENSG00000009950 S chr7_73037276_73037667_11111_3 1 . -1 -1 . -1 . . . . . . . chr7 73026888 73029148 ENSG00000009954 S chr7_72936644_72936891_11111_2 1 . -1 -1 . -1 . . . . . . . chr7 73026888 73029148 ENSG00000106635 S chr7_72972024_72972483_10100_1 1 . -1 -1 . -1 . . . . . . . chr7 73037160 73039370 MLXIPL F chr7_73037276_73037667_11111_3 1 . -1 -1 . -1 . . . . . . . chr7 73037168 73037552 MLXIPL F chr7_73037276_73037667_11111_3 1 . -1 -1 . -1 . . . . . . . chr7 73037183 73039025 ENSG00000009950 S chr7_73027124_73027481_11100_3:chr7_73027893_73028460_11100_3:chr7_73028822_73028940_11110_1 3 . -1 -1 . -1 . . . . . . . chr7 73152683 73154157 ABHD11 F chr7_73153513_73153595_10111_2 1 . -1 -1 . -1 . . . . . . . chr7 73152683 73157660 ABHD11 F chr7_73157000_73157101_10100_1:chr7_73157149_73157589_10111_3 2 . -1 -1 . -1 . . . . . . . chr7 73153813 73154099 ABHD11 F chr7_73153180_73153595_10111_2 1 . -1 -1 . -1 . . . . . . . chr7 73157180 73157738 ABHD11 F chr7_73153180_73153595_10111_2:chr7_73157000_73157101_10100_1:chr7_73157149_73157589_10111_3 3 . -1 -1 . -1 . . . . . . . chr7 73867619 73870008 GTF2IRD1 F chr7_73869741_73869957_10101_1 1 . -1 -1 . -1 . . . . . . . chr7 73869724 73869891 GTF2IRD1 F chr7_73869741_73869957_10101_1 1 . -1 -1 . -1 . . . . . . . chr7 74074203 74074528 GTF2I F chr7_74072862_74073031_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 77428722 77429286 PHTF2 F chr7_77427934_77428222_11100_2 1 . -1 -1 . -1 . . . . . . . chr7 80270298 80270436 CD36 F chr7_80268462_80268576_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 86275254 86275414 GRM3 F chr7_86274704_86274882_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 87937179 87937443 STEAP4 F chr7_87936186_87936354_11111_1 1 . -1 -1 . -1 . . . . . . . chr7 89873987 89875917 C7orf63 F chr7_89875864_89875982_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 89875592 89875840 C7orf63 F chr7_89874396_89874607_11000_2:chr7_89875864_89875917_10000_1 2 . -1 -1 . -1 . . . . . . . chr7 92156983 92157235 C7orf64 F chr7_92157668_92157987_11111_1 1 . -1 -1 . -1 . . . . . . . chr7 92156983 92157235 PEX1 F chr7_92157668_92157987_11111_1 1 . -1 -1 . -1 . . . . . . . chr7 92745192 92745375 SAMD9 F chr7_92747573_92747678_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 94140158 94140537 CASD1 F chr7_94138669_94138735_11100_1 1 . -1 -1 . -1 . . . . . . . chr7 94286949 94287416 PEG10 F chr7_94286081_94286231_10000_1:chr7_94286081_94286231_10000_1 2 . -1 -1 . -1 . . . . . . . chr7 96653642 96657334 DLX5 F chr7_96657097_96657278_11000_1 1 . -1 -1 . -1 . . . . . . . chr7 96657052 96657215 DLX5 F chr7_96657097_96657278_11000_1 1 . -1 -1 . -1 . . . . . . . chr7 97910478 97913906 BRI3 F chr7_97913824_97913934_11101_1 1 . -1 -1 . -1 . . . . . . . chr7 97913424 97913987 BRI3 F chr7_97910478_97910606_11100_3:chr7_97913824_97913906_11101_1 2 . -1 -1 . -1 . . . . . . . chr7 98971797 98973333 ARPC1B F chr7_98973056_98973232_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 98973055 98973209 ARPC1B F chr7_98972267_98972398_10000_1:chr7_98973056_98973232_10000_1 2 . -1 -1 . -1 . . . . . . . chr7 99340340 99340878 POP7 S chr7_100303478_100303760_10111_2 1 . -1 -1 . -1 . . . . . . . chr7 99424357 99425800 POP7 S chr7_100303478_100303760_10111_2 1 . -1 -1 . -1 . . . . . . . chr7 99424357 99425800 ZNF3 S chr7_99678567_99678669_11000_2:chr7_99679277_99679596_11101_1 2 . -1 -1 . -1 . . . . . . . chr7 99601673 99602000 LRCH4 S chr7_100166200_100166283_10000_4:chr7_100167161_100167421_10111_1 2 . -1 -1 . -1 . . . . . . . chr7 99601673 99602000 POP7 S chr7_100303478_100303760_10111_2 1 . -1 -1 . -1 . . . . . . . chr7 99601673 99602000 ZKSCAN1 S chr7_99613074_99613269_11111_1:chr7_99614298_99614460_11100_1 2 . -1 -1 . -1 . . . . . . . chr7 99612862 99614460 ZKSCAN1 S chr7_100143600_100144061_10111_3:chr7_99601673_99601893_11011_3 2 . -1 -1 . -1 . . . . . . . chr7 99678567 99679804 ZNF3 S chr7_100143600_100144061_10111_3:chr7_100165521_100166200_10000_4:chr7_99424502_99425510_11000_4 3 . -1 -1 . -1 . . . . . . . chr7 99698011 99699784 MCM7 S chr7_100143600_100144061_10111_3:chr7_100165521_100166200_10000_4 2 . -1 -1 . -1 . . . . . . . chr7 100143600 100144200 MCM7 S chr7_99698166_99698467_11111_2:chr7_99699027_99699176_11111_1 2 . -1 -1 . -1 . . . . . . . chr7 100143600 100144200 POP7 S chr7_100303478_100303760_10111_2 1 . -1 -1 . -1 . . . . . . . chr7 100143600 100144200 SERPINE1 S chr7_100769535_100769792_10101_1:chr7_100770032_100770246_10111_3 2 . -1 -1 . -1 . . . . . . . chr7 100143600 100144200 ZKSCAN1 S chr7_99613074_99613269_11111_1:chr7_99614298_99614460_11100_1 2 . -1 -1 . -1 . . . . . . . chr7 100143600 100144200 ZNF3 S chr7_99678567_99678669_11000_2:chr7_99679277_99679596_11101_1 2 . -1 -1 . -1 . . . . . . . chr7 100164520 100166200 ACHE S chr7_100487428_100487570_10100_1 1 . -1 -1 . -1 . . . . . . . chr7 100164520 100166200 LRCH4 S chr7_100166200_100166283_10000_4:chr7_100167161_100167421_10111_1 2 . -1 -1 . -1 . . . . . . . chr7 100164520 100166200 MCM7 S chr7_99698166_99698467_11111_2:chr7_99699027_99699176_11111_1 2 . -1 -1 . -1 . . . . . . . chr7 100164520 100166200 SERPINE1 S chr7_100769535_100769792_10101_1:chr7_100770032_100770246_10111_3 2 . -1 -1 . -1 . . . . . . . chr7 100164520 100166200 ZNF3 S chr7_99678567_99678669_11000_2:chr7_99679277_99679596_11101_1 2 . -1 -1 . -1 . . . . . . . chr7 100166200 100170381 LRCH4 S chr7_100165521_100166200_10000_4:chr7_99601673_99601893_11011_3 2 . -1 -1 . -1 . . . . . . . chr7 100289130 100289380 LRCH4 S chr7_100166200_100166283_10000_4:chr7_100167161_100167421_10111_1 2 . -1 -1 . -1 . . . . . . . chr7 100289130 100289380 ZNF3 S chr7_99678567_99678669_11000_2:chr7_99679277_99679596_11101_1 2 . -1 -1 . -1 . . . . . . . chr7 100302940 100304171 POP7 S chr7_100143600_100144061_10111_3:chr7_99340342_99340704_11000_4:chr7_99424502_99425510_11000_4:chr7_99601673_99601893_11011_3 4 . -1 -1 . -1 . . . . . . . chr7 100486621 100488106 ACHE S chr7_100165521_100166200_10000_4 1 . -1 -1 . -1 . . . . . . . chr7 100769312 100770776 SERPINE1 S chr7_100143600_100144061_10111_3:chr7_100165521_100166200_10000_4 2 chr7 100769538 100769539 CR962707 + 3 DP rs2227631 SERPINE1 Venous thrombosis: increased risk: association AGCTGCCCCAAGTCCTAGCGGGCAGCTCGA[G/A]GAAGTGAAACTTACACGTTGGTCTCCTGTT 8987164 chr7 100772573 100772742 SERPINE1 F chr7_100770032_100770246_10111_3 1 . -1 -1 . -1 . . . . . . . chr7 100772917 100773243 SERPINE1 F chr7_100770032_100770246_10111_3 1 . -1 -1 . -1 . . . . . . . chr7 101927904 101929781 SH2B2 F chr7_101929528_101929776_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 101927904 101930346 SH2B2 F chr7_101929678_101929776_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 101929501 101929660 SH2B2 F chr7_101929528_101929776_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 101929978 101930313 SH2B2 F chr7_101929528_101929776_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 101931211 101931437 SH2B2 F chr7_101929528_101929776_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 102790674 102790901 NAPEPLD F chr7_102789506_102789890_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 107643303 107645126 LAMB1 F chr7_107644862_107645086_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 107644827 107645024 LAMB1 F chr7_107644862_107645086_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 114564153 114564421 MDFIC F chr7_114561894_114562147_10011_2 1 . -1 -1 . -1 . . . . . . . chr7 116314942 116315351 MET F chr7_116311958_116312250_11101_1 1 . -1 -1 . -1 . . . . . . . chr7 120589568 120589730 ING3 F chr7_120590489_120591303_11111_3 1 . -1 -1 . -1 . . . . . . . chr7 121783025 121783385 AASS F chr7_121784227_121784701_11101_3 1 . -1 -1 . -1 . . . . . . . chr7 124402716 124403225 GPR37 F chr7_124402770_124403153_10001_2:chr7_124405807_124406020_10000_1 2 . -1 -1 . -1 . . . . . . . chr7 124402770 124406181 GPR37 F chr7_124402721_124403153_10001_2 1 chr7 124404091 124404093 CD1211738 - 5 DM? NULL GPR37 Autism spectrum disorder TGGCCTTCTGGGACTTTCTCATCATCTTCT[TCT/-]GCCTTCCGCTGGTCATCTTCCACGAGCTGA 23251443 chr7 128094514 128094949 C7orf68 F chr7_128094531_128094668_11011_1:chr7_128095324_128095438_10010_1:chr7_128095798_128095908_11101_1 3 . -1 -1 . -1 . . . . . . . chr7 128094531 128096384 C7orf68 F chr7_128094447_128094668_11011_1 1 . -1 -1 . -1 . . . . . . . chr7 128574660 128575408 IRF5 F chr7_128576343_128576525_10000_2:chr7_128576343_128576525_10000_2:chr7_128577896_128578076_10000_1:chr7_128577896_128578076_10000_1 4 . -1 -1 . -1 . . . . . . . chr7 130794354 130796332 MKLN1 F chr7_130795964_130796251_11111_2 1 . -1 -1 . -1 . . . . . . . chr7 130795999 130796263 MKLN1 F chr7_130795279_130795550_11110_1:chr7_130795964_130796251_11111_2 2 . -1 -1 . -1 . . . . . . . chr7 131010342 131010498 MKLN1 F chr7_131012449_131012676_10010_1 1 . -1 -1 . -1 . . . . . . . chr7 134832265 134835663 TMEM140 F chr7_134834900_134835775_11111_3 1 . -1 -1 . -1 . . . . . . . chr7 134832265 134836335 TMEM140 F chr7_134835704_134835775_11111_3 1 . -1 -1 . -1 . . . . . . . chr7 134835200 134835725 TMEM140 F chr7_134832265_134832285_11101_2:chr7_134832642_134832930_11111_3:chr7_134833284_134833500_11101_3:chr7_134834188_134834355_10000_1:chr7_134834764_134835663_11111_3 5 . -1 -1 . -1 . . . . . . . chr7 134836004 134836265 TMEM140 F chr7_134832265_134832285_11101_2:chr7_134832642_134832930_11111_3:chr7_134833284_134833500_11101_3:chr7_134834188_134834355_10000_1:chr7_134834764_134835775_11111_3 5 . -1 -1 . -1 . . . . . . . chr7 134836328 134836759 TMEM140 F chr7_134832265_134832285_11101_2:chr7_134832642_134832930_11111_3:chr7_134833284_134833500_11101_3:chr7_134834188_134834355_10000_1:chr7_134834764_134835775_11111_3 5 . -1 -1 . -1 . . . . . . . chr7 137685065 137685809 CREB3L2 F chr7_137685899_137686101_11101_1:chr7_137687003_137687197_11000_1 2 . -1 -1 . -1 . . . . . . . chr7 137685237 137687347 CREB3L2 F chr7_137685899_137686101_11101_1 1 . -1 -1 . -1 . . . . . . . chr7 138037104 138038425 23643 S chr7_139024926_139025471_11111_3:chr7_139025892_139026078_11111_1:chr7_139026425_139026579_11100_1 3 . -1 -1 . -1 . . . . . . . chr7 138080642 138082117 23643 S chr7_139024926_139025471_11111_3:chr7_139025892_139026078_11111_1:chr7_139026425_139026579_11100_1 3 . -1 -1 . -1 . . . . . . . chr7 138791748 138791993 ZC3HAV1 F chr7_138794066_138794657_11111_3 1 . -1 -1 . -1 . . . . . . . chr7 138796651 138797059 ZC3HAV1 F chr7_138794066_138794657_11111_3 1 . -1 -1 . -1 . . . . . . . chr7 138915730 138917443 UBN2 F chr7_138917002_138917220_11100_1 1 . -1 -1 . -1 . . . . . . . chr7 138917056 138917428 UBN2 F chr7_138915805_138916051_11111_2:chr7_138917002_138917220_11100_1 2 . -1 -1 . -1 . . . . . . . chr7 139440400 139440699 KDM7A S chr7_139875240_139875554_11110_3 1 . -1 -1 . -1 . . . . . . . chr7 139475704 139475902 TBXAS1 S chr7_139440400_139440699_11001_3 1 . -1 -1 . -1 . . . . . . . chr7 139875062 139875996 KDM7A S chr7_139440400_139440699_11001_3 1 . -1 -1 . -1 . . . . . . . chr7 142552291 142554584 EPHB6 F chr7_142553907_142553960_11111_1 1 . -1 -1 . -1 . . . . . . . chr7 142554207 142554559 EPHB6 F chr7_142553716_142553960_11111_1 1 . -1 -1 . -1 . . . . . . . chr7 142554592 142555033 EPHB6 F chr7_142553716_142553960_11111_1 1 . -1 -1 . -1 . . . . . . . chr7 143598671 143602292 FAM115A F chr7_143601924_143602072_11000_1 1 . -1 -1 . -1 . . . . . . . chr7 143598777 143602292 FAM115A F chr7_143601924_143602072_11000_1 1 . -1 -1 . -1 . . . . . . . chr7 143602007 143602175 FAM115A F chr7_143599006_143599458_11000_1:chr7_143599006_143599458_11000_1:chr7_143601924_143602072_11000_1:chr7_143601924_143602072_11000_1 4 . -1 -1 . -1 . . . . . . . chr7 148787368 148788957 ZNF786 F chr7_148788942_148789114_00000_1 1 . -1 -1 . -1 . . . . . . . chr7 148788628 148788884 ZNF786 F chr7_148788942_148788957_00000_1 1 . -1 -1 . -1 . . . . . . . chr7 149191904 149195398 ZNF746 F chr7_149191936_149192248_10000_2 1 . -1 -1 . -1 . . . . . . . chr7 149191913 149192296 ZNF746 F chr7_149191936_149192248_10000_2 1 . -1 -1 . -1 . . . . . . . chr7 150382293 150385496 GIMAP2 F chr7_150385151_150385273_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 150385091 150385499 GIMAP2 F chr7_150385151_150385273_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 150413144 150415259 GIMAP1 F chr7_150415280_150415407_10000_1 1 . -1 -1 . -1 . . . . . . . chr7 151038346 151039738 NUB1 F chr7_151039445_151039649_11111_1 1 . -1 -1 . -1 . . . . . . . chr7 151039447 151039627 NUB1 F chr7_151038819_151038963_11101_1:chr7_151039445_151039649_11111_1 2 . -1 -1 . -1 . . . . . . . chr7 155085901 155086048 INSIG1 F chr7_155088338_155088569_10100_2:chr7_155089153_155089269_10111_1 2 . -1 -1 . -1 . . . . . . . chr7 158493510 158493807 NCAPG2 F chr7_158497535_158497809_11100_1 1 . -1 -1 . -1 . . . . . . . chr8 11141729 11142780 MTMR9 S chr8_11710657_11711002_11000_3 1 . -1 -1 . -1 . . . . . . . chr8 11322358 11322501 FAM167A F chr8_11324204_11324402_11100_1 1 . -1 -1 . -1 . . . . . . . chr8 11322764 11323135 FAM167A F chr8_11324204_11324402_11100_1 1 . -1 -1 . -1 . . . . . . . chr8 11558749 11558994 GATA4 F chr8_11560495_11560847_11101_3:chr8_11561443_11561757_11101_1 2 . -1 -1 . -1 . . . . . . . chr8 11560574 11562217 GATA4 F chr8_11560495_11560847_11101_3 1 chr8 11560787 11560788 CR123492 + 3 DM rs372004083 GATA4 Ventricular septal defect GGTAATCGATGGGTTATTTTTACGCGGTAA[T/C]AGGGCCCTGTGATTGCTCTATTAACCTTTA 22500510 chr8 11560574 11562217 GATA4 F chr8_11560495_11560847_11101_3 1 chr8 11560864 11560865 CR123494 + 3 DM NULL GATA4 Ventricular septal defect TCTCCGGCTCGCAGCCCCGCTGCGCTGGGG[C/A]CTCCAGGCTCTGACGCCGACTCCCAACTCA 22500510 chr8 11560574 11562217 GATA4 F chr8_11560495_11560847_11101_3 1 chr8 11561282 11561283 CR123495 + 3 DM NULL GATA4 Ventricular septal defect CACTACCCCTGCCCAGGAACTAGCATCCAG[C/T]CGGGCACCCCGGGTGACCCAGTGCCCCACA 22500510 chr8 11560574 11562217 GATA4 F chr8_11560495_11560847_11101_3 1 chr8 11561369 11561370 CR123496 + 3 DM NULL GATA4 Ventricular septal defect TCACCTTCTTCTCTACTGGCCCCGCCCCTC[G/T]CCCGCCGCTGCGGGATGAGGACCACAGGAA 22500510 chr8 11560575 11560973 GATA4 F chr8_11560574_11560847_11101_3:chr8_11561443_11561757_11101_1 2 chr8 11560787 11560788 CR123492 + 3 DM rs372004083 GATA4 Ventricular septal defect GGTAATCGATGGGTTATTTTTACGCGGTAA[T/C]AGGGCCCTGTGATTGCTCTATTAACCTTTA 22500510 chr8 11560575 11560973 GATA4 F chr8_11560574_11560847_11101_3:chr8_11561443_11561757_11101_1 2 chr8 11560864 11560865 CR123494 + 3 DM NULL GATA4 Ventricular septal defect TCTCCGGCTCGCAGCCCCGCTGCGCTGGGG[C/A]CTCCAGGCTCTGACGCCGACTCCCAACTCA 22500510 chr8 11562739 11563084 GATA4 F chr8_11561443_11561757_11101_1 1 . -1 -1 . -1 . . . . . . . chr8 11626869 11627548 NEIL2 S chr8_11710657_11711002_11000_3 1 chr8 11627261 11627262 CR085800 + 3 FP rs8191518 NEIL2 Reduced expression CCAGCTGGAGCGGCTGTGCGGGCTGCGTAG[C/G]GGTGCTGGGTCGGGCCGACGTGCCACCCAC 18651651 chr8 11659470 11660954 FDFT1 S chr8_11710657_11711002_11000_3 1 . -1 -1 . -1 . . . . . . . chr8 11665620 11666524 FDFT1 S chr8_11710657_11711002_11000_3 1 chr8 11666337 11666338 CM081612 + 1 FP rs11549147 FDFT1 Increased total cholesterol CGCTCAGCAGCAGCCTGAAAACTTGCTACA[A/G]GTATCTCAATCAGACCAGTCGCAGTTTCGC 18350552 chr8 11667775 11668004 FDFT1 S chr8_11668200_11668364_10000_1:chr8_11710657_11711002_11000_3 2 . -1 -1 . -1 . . . . . . . chr8 11710200 11712108 CTSB S chr8_11719999_11720443_11000_2:chr8_11726241_11726375_10000_1 2 chr8 11710888 11710889 CM066015 - 1 DP rs12338 CTSB Tropical calcific pancreatitis: association with AATGCCCGGAGCAGGCCCTCTTTCCATCCC[C/G]TGTCGGATGAGCTGGTCAACTATGTCAACA 16492714 chr8 11710200 11712108 FDFT1 S chr8_11659793_11659991_11101_2:chr8_11665644_11665854_11101_1:chr8_11666406_11666524_11100_2 3 chr8 11710888 11710889 CM066015 - 1 DP rs12338 CTSB Tropical calcific pancreatitis: association with AATGCCCGGAGCAGGCCCTCTTTCCATCCC[C/G]TGTCGGATGAGCTGGTCAACTATGTCAACA 16492714 chr8 11710200 11712108 LONRF1 S chr8_12611520_12611747_11111_2 1 chr8 11710888 11710889 CM066015 - 1 DP rs12338 CTSB Tropical calcific pancreatitis: association with AATGCCCGGAGCAGGCCCTCTTTCCATCCC[C/G]TGTCGGATGAGCTGGTCAACTATGTCAACA 16492714 chr8 11710200 11712108 MTMR9 S chr8_11141819_11142065_11101_1 1 chr8 11710888 11710889 CM066015 - 1 DP rs12338 CTSB Tropical calcific pancreatitis: association with AATGCCCGGAGCAGGCCCTCTTTCCATCCC[C/G]TGTCGGATGAGCTGGTCAACTATGTCAACA 16492714 chr8 11710200 11712108 NEIL2 S chr8_11627118_11627283_10000_1 1 chr8 11710888 11710889 CM066015 - 1 DP rs12338 CTSB Tropical calcific pancreatitis: association with AATGCCCGGAGCAGGCCCTCTTTCCATCCC[C/G]TGTCGGATGAGCTGGTCAACTATGTCAACA 16492714 chr8 11719800 11720678 CTSB S chr8_11710657_11711002_11000_3 1 . -1 -1 . -1 . . . . . . . chr8 11720770 11720871 CTSB S chr8_11710657_11711002_11000_3 1 . -1 -1 . -1 . . . . . . . chr8 11721336 11721430 CTSB S chr8_11710657_11711002_11000_3 1 . -1 -1 . -1 . . . . . . . chr8 11721646 11721884 CTSB S chr8_11710657_11711002_11000_3 1 . -1 -1 . -1 . . . . . . . chr8 11723758 11726375 CTSB S chr8_11710657_11711002_11000_3 1 . -1 -1 . -1 . . . . . . . chr8 12611311 12613611 LONRF1 S chr8_11710657_11711002_11000_3 1 . -1 -1 . -1 . . . . . . . chr8 12612491 12615354 LONRF1 F chr8_12615062_12615376_10101_2 1 . -1 -1 . -1 . . . . . . . chr8 12615021 12615285 LONRF1 F chr8_12615062_12615354_10101_2 1 . -1 -1 . -1 . . . . . . . chr8 12988209 12988727 DLC1 F chr8_12991063_12991309_11010_1 1 . -1 -1 . -1 . . . . . . . chr8 13132631 13134417 DLC1 S chr8_13211398_13211763_10000_4 1 . -1 -1 . -1 . . . . . . . chr8 13211092 13211979 DLC1 S chr8_13132808_13133283_11111_3:chr8_13134071_13134247_11101_3 2 . -1 -1 . -1 . . . . . . . chr8 18870695 18874652 PSD3 F chr8_18874863_18874882_11010_2 1 . -1 -1 . -1 . . . . . . . chr8 20054203 20058768 ATP6V1B2 F chr8_20058318_20058525_11101_2 1 . -1 -1 . -1 . . . . . . . chr8 20055803 20056436 ATP6V1B2 F chr8_20054723_20054922_11101_1 1 . -1 -1 . -1 . . . . . . . chr8 20058362 20058772 ATP6V1B2 F chr8_20054723_20054922_11101_1:chr8_20058318_20058525_11101_2 2 . -1 -1 . -1 . . . . . . . chr8 22222911 22225262 SLC39A14 F chr8_22222786_22223263_10100_4 1 . -1 -1 . -1 . . . . . . . chr8 22222911 22225550 SLC39A14 F chr8_22222786_22223263_10100_4 1 . -1 -1 . -1 . . . . . . . chr8 22222955 22223268 SLC39A14 F chr8_22222911_22223263_10100_4:chr8_22222911_22223263_10100_4:chr8_22224446_22225018_10100_1:chr8_22224446_22225018_10100_1:chr8_22225454_22225550_10001_2 5 . -1 -1 . -1 . . . . . . . chr8 22224261 22227628 SLC39A14 F chr8_22227392_22227655_10101_2 1 . -1 -1 . -1 . . . . . . . chr8 22224549 22227628 SLC39A14 F chr8_22227392_22227655_10101_2 1 . -1 -1 . -1 . . . . . . . chr8 22227261 22227593 SLC39A14 F chr8_22224446_22225018_10100_1:chr8_22224549_22225018_10100_1:chr8_22225454_22225614_10001_2:chr8_22225454_22225614_10001_2:chr8_22227392_22227628_10101_2:chr8_22227392_22227628_10101_2 6 . -1 -1 . -1 . . . . . . . chr8 22300361 22300587 PPP3CC F chr8_22298424_22298625_11101_1 1 . -1 -1 . -1 . . . . . . . chr8 22301187 22301546 PPP3CC F chr8_22298424_22298625_11101_1 1 . -1 -1 . -1 . . . . . . . chr8 22410101 22410594 SORBS3 F chr8_22408878_22408988_10101_1 1 . -1 -1 . -1 . . . . . . . chr8 22854119 22854395 RHOBTB2 F chr8_22853225_22853335_10000_1 1 . -1 -1 . -1 . . . . . . . chr8 24152439 24152589 ADAM28 F chr8_24151401_24151638_11000_1 1 . -1 -1 . -1 . . . . . . . chr8 24155243 24155623 ADAM28 F chr8_24151401_24151638_11000_1 1 . -1 -1 . -1 . . . . . . . chr8 26718506 26723422 ADRA1A F chr8_26718526_26718688_10000_1 1 chr8 26721748 26721749 CM057866 - 1 FP rs3730287 ADRA1A Increased receptor signalling CATCGGAAAAACGCCCCGGCAGGAGGCAGC[G/A]GGATGGCCAGCGCCAAGACCAAGACGCACT 15900517 chr8 26718506 26723422 ADRA1A F chr8_26718526_26718688_10000_1 1 chr8 26721888 26721889 CM057865 - 1 FP rs2229125 ADRA1A Altered antagonist binding TGGGCTCCTTCTACCTGCCTCTGGCCATCA[T/G]CCTGGTCATGTACTGCCGCGTCTACGTGGT 15900517 chr8 26718506 26723422 ADRA1A F chr8_26718526_26718688_10000_1 1 chr8 26721990 26721991 CM057863 - 1 FP rs56233953 ADRA1A Decreased binding affinity TCATATCCATTGGACCCCTGTTCGGCTGGA[G/A]GCAGCCGGCCCCCGAGGACGAGACCATCTG 15900517 chr8 26718570 26718842 ADRA1A F chr8_26718526_26718688_10000_1:chr8_26719628_26719743_10000_1:chr8_26720607_26720785_10000_1:chr8_26722018_26722201_11000_1 4 . -1 -1 . -1 . . . . . . . chr8 28352811 28353080 FZD3 F chr8_28351571_28351769_10000_1 1 . -1 -1 . -1 . . . . . . . chr8 28562756 28562912 EXTL3 F chr8_28558936_28559046_11100_1:chr8_28561957_28562117_11100_1 2 . -1 -1 . -1 . . . . . . . chr8 29813780 29815189 DCTN6 S chr8_30015159_30015260_10000_1 1 . -1 -1 . -1 . . . . . . . chr8 30015159 30015462 DCTN6 S chr8_29814137_29814305_11000_2 1 . -1 -1 . -1 . . . . . . . chr8 30669725 30670541 PPP2CB S chr8_29814137_29814305_11000_2:chr8_30580464_30580610_11101_1:chr8_30660902_30661061_10000_1 3 . -1 -1 . -1 . . . . . . . chr8 37757888 37758317 RAB11FIP1 F chr8_37757280_37757491_10000_1 1 . -1 -1 . -1 . . . . . . . chr8 37760968 37761285 RAB11FIP1 F chr8_37757280_37757491_10000_1 1 . -1 -1 . -1 . . . . . . . chr8 38242599 38242872 LETM2 F chr8_38243844_38244018_11111_1:chr8_38243844_38244018_11111_1 2 . -1 -1 . -1 . . . . . . . chr8 38384926 38385302 C8orf86 F chr8_38385719_38385854_10000_1 1 . -1 -1 . -1 . . . . . . . chr8 38414872 38415170 ERLIN2 S chr8_37593998_37594206_10111_1 1 . -1 -1 . -1 . . . . . . . chr8 38415291 38416033 ERLIN2 S chr8_37593998_37594206_10111_1 1 . -1 -1 . -1 . . . . . . . chr8 39911995 39913019 C8orf4 S chr8_40010511_40011115_11000_4 1 . -1 -1 . -1 . . . . . . . chr8 40010511 40011725 C8orf4 S chr8_39912055_39912793_11110_4 1 . -1 -1 . -1 . . . . . . . chr8 41436789 41436966 AGPAT6 F chr8_41435478_41435768_10000_1 1 . -1 -1 . -1 . . . . . . . chr8 41908079 41908836 MYST3 F chr8_41909503_41910005_11111_2 1 . -1 -1 . -1 . . . . . . . chr8 42748560 42748749 HOOK3 F chr8_42750605_42750734_10000_1 1 . -1 -1 . -1 . . . . . . . chr8 42948022 42949200 POMK S chr8_42334341_42334773_10000_4 1 . -1 -1 . -1 . . . . . . . chr8 49835974 49836286 SNAI2 F chr8_49833950_49834118_11000_1:chr8_49834458_49834633_11000_1 2 . -1 -1 . -1 . . . . . . . chr8 52809489 52812235 PCMTD1 F chr8_52810117_52810187_11000_1 1 . -1 -1 . -1 . . . . . . . chr8 52809491 52809887 PCMTD1 F chr8_52810117_52810252_11000_1:chr8_52811600_52811867_11000_2 2 . -1 -1 . -1 . . . . . . . chr8 53625473 53626379 RB1CC1 F chr8_53625726_53625966_11000_2:chr8_53626921_53627476_11000_1 2 . -1 -1 . -1 . . . . . . . chr8 53625726 53627526 RB1CC1 F chr8_53625713_53625966_11000_2 1 chr8 53627494 53627495 CR1110495 - 3 FP rs36124850 RB1CC1 Increased promoter activity CCCTTGCAGAGTTAACAGGGGGACGCTTGC[C/T]AGCTGCGTGCAGTCCCGGCGGTCCGGATAT 22049074 chr8 56791431 56791783 LYN F chr8_56792292_56792405_11101_2 1 . -1 -1 . -1 . . . . . . . chr8 56796346 56796794 LYN F chr8_56792292_56792405_11101_2:chr8_56792999_56793207_10100_2:chr8_56794215_56794431_10101_1 3 . -1 -1 . -1 . . . . . . . chr8 62624516 62625412 ASPH F chr8_62626084_62626340_11000_1:chr8_62627027_62627160_11000_1:chr8_62627236_62627682_11000_2 3 . -1 -1 . -1 . . . . . . . chr8 64082499 64082747 YTHDF3 F chr8_64081002_64081225_10000_1 1 . -1 -1 . -1 . . . . . . . chr8 66749896 66750187 PDE7A F chr8_66754253_66754469_11101_2 1 . -1 -1 . -1 . . . . . . . chr8 67522221 67522599 MYBL1 F chr8_67525461_67525575_11000_1 1 . -1 -1 . -1 . . . . . . . chr8 67624152 67626617 SGK3 F chr8_67626164_67626287_10000_1 1 . -1 -1 . -1 . . . . . . . chr8 67626224 67626609 SGK3 F chr8_67624579_67624845_10100_1:chr8_67626164_67626287_10000_1 2 . -1 -1 . -1 . . . . . . . chr8 77590074 77594015 ZFHX4 F chr8_77590662_77590770_10101_1 1 . -1 -1 . -1 . . . . . . . chr8 77590079 77590470 ZFHX4 F chr8_77590662_77590887_10101_1:chr8_77592797_77592971_11101_2:chr8_77593334_77593515_11101_1:chr8_77593351_77594015_11101_2 4 . -1 -1 . -1 . . . . . . . chr8 79578942 79579038 FAM164A F chr8_79578222_79578369_11101_1 1 . -1 -1 . -1 . . . . . . . chr8 81143285 81143407 TPD52 S chr8_80875781_80875986_11000_1:chr8_80876291_80876527_11000_2 2 . -1 -1 . -1 . . . . . . . chr8 81782792 81783006 ZNF704 F chr8_81784286_81784402_10000_1:chr8_81784800_81785047_11100_1 2 . -1 -1 . -1 . . . . . . . chr8 86090980 86091058 E2F5 F chr8_86089247_86089370_10000_1:chr8_86089822_86090419_11000_2 2 . -1 -1 . -1 . . . . . . . chr8 95271328 95275047 GEM F chr8_95271272_95271426_10000_1 1 . -1 -1 . -1 . . . . . . . chr8 95271404 95271652 GEM F chr8_95271328_95271426_10000_1 1 . -1 -1 . -1 . . . . . . . chr8 96146998 96147210 PLEKHF2 F chr8_96145577_96146280_11100_3 1 . -1 -1 . -1 . . . . . . . chr8 99953302 99954000 OSR2 F chr8_99956454_99956588_11111_1 1 . -1 -1 . -1 . . . . . . . chr8 103249003 103249378 RRM2B F chr8_103251011_103251275_11110_2:chr8_103251011_103251275_11110_2:chr8_103251508_103251559_11110_2:chr8_103251508_103251744_11110_2 4 chr8 103249078 103249079 CS110394 - 2 FP rs28999675 RRM2B Altered p53 binding tcttgacctaaattgttgtcctgacatgcc[C/G]aggcatgtcttccaactgggtgaccagaaa 20817676 chr8 103669513 103669869 KLF10 F chr8_103665716_103666430_11010_3:chr8_103667873_103668446_11010_1:chr8_103667873_103668446_11010_1 3 . -1 -1 . -1 . . . . . . . chr8 103669922 103670289 KLF10 F chr8_103665716_103666430_11010_3:chr8_103667873_103668446_11010_1:chr8_103667873_103668446_11010_1 3 . -1 -1 . -1 . . . . . . . chr8 105598029 105598284 LRP12 F chr8_105601393_105601675_11111_2 1 . -1 -1 . -1 . . . . . . . chr8 108508143 108508403 ANGPT1 F chr8_108510331_108510448_10111_1 1 . -1 -1 . -1 . . . . . . . chr8 117883999 117884137 RAD21 F chr8_117884897_117885065_10000_1:chr8_117886981_117887378_10000_3 2 . -1 -1 . -1 . . . . . . . chr8 117889939 117890223 RAD21 F chr8_117886981_117887378_10000_3 1 . -1 -1 . -1 . . . . . . . chr8 117891197 117891487 RAD21 F chr8_117886981_117887378_10000_3 1 . -1 -1 . -1 . . . . . . . chr8 120217398 120217670 MAL2 F chr8_120220413_120220570_11100_2 1 . -1 -1 . -1 . . . . . . . chr8 121774260 121774918 SNTB1 S chr8_121821790_121822272_11111_3:chr8_121822996_121823119_11000_1:chr8_121824225_121824470_11000_2 3 . -1 -1 . -1 . . . . . . . chr8 121787200 121788764 SNTB1 S chr8_121821790_121822272_11111_3:chr8_121822996_121823119_11000_1:chr8_121824225_121824470_11000_2 3 . -1 -1 . -1 . . . . . . . chr8 121820910 121824809 SNTB1 F chr8_121820940_121821089_11000_1 1 . -1 -1 . -1 . . . . . . . chr8 121821026 121821194 SNTB1 F chr8_121820940_121821089_11000_1:chr8_121821783_121822272_11111_3:chr8_121822996_121823119_11000_1:chr8_121824225_121824470_11000_2 4 . -1 -1 . -1 . . . . . . . chr8 121821790 121825151 SNTB1 S chr8_121774693_121774918_11010_2:chr8_121851375_121851825_11010_4:chr8_121880981_121881030_10010_2:chr8_121881122_121881367_10010_2 4 . -1 -1 . -1 . . . . . . . chr8 121851247 121852305 SNTB1 S chr8_121821790_121822272_11111_3:chr8_121822996_121823119_11000_1:chr8_121824225_121824470_11000_2 3 . -1 -1 . -1 . . . . . . . chr8 121880800 121881030 SNTB1 S chr8_121821790_121822272_11111_3:chr8_121822996_121823119_11000_1:chr8_121824225_121824470_11000_2 3 . -1 -1 . -1 . . . . . . . chr8 121881122 121881400 SNTB1 S chr8_121821790_121822272_11111_3:chr8_121822996_121823119_11000_1:chr8_121824225_121824470_11000_2 3 . -1 -1 . -1 . . . . . . . chr8 123795111 123795992 ZHX2 F chr8_123793400_123793575_11110_1:chr8_123794475_123794638_11101_1 2 . -1 -1 . -1 . . . . . . . chr8 124407420 124409205 ATAD2 F chr8_124407813_124408086_11100_2 1 . -1 -1 . -1 . . . . . . . chr8 124407455 124407786 ATAD2 F chr8_124407813_124408272_11100_2:chr8_124408967_124409168_11110_1 2 . -1 -1 . -1 . . . . . . . chr8 124549741 124550229 FBXO32 F chr8_124553465_124553715_11010_3 1 . -1 -1 . -1 . . . . . . . chr8 124552481 124552488 FBXO32 F chr8_124553465_124553715_11010_3 1 . -1 -1 . -1 . . . . . . . chr8 125550655 125551744 NDUFB9 S chr8_126137919_126138218_10000_3 1 . -1 -1 . -1 . . . . . . . chr8 125641923 125642296 TRIB1 S chr8_126442057_126442609_11010_4 1 . -1 -1 . -1 . . . . . . . chr8 125681400 125682600 TRIB1 S chr8_126442057_126442609_11010_4 1 . -1 -1 . -1 . . . . . . . chr8 125984707 125984742 ZNF572 F chr8_125985436_125985659_10010_1 1 . -1 -1 . -1 . . . . . . . chr8 126137849 126138312 NDUFB9 S chr8_125550697_125550810_10000_1:chr8_125551249_125551467_10000_1 2 . -1 -1 . -1 . . . . . . . chr8 126137849 126138312 TRIB1 S chr8_126442057_126442609_11010_4 1 . -1 -1 . -1 . . . . . . . chr8 126346036 126347025 NDUFB9 S chr8_125550697_125550810_10000_1:chr8_125551249_125551467_10000_1 2 . -1 -1 . -1 . . . . . . . chr8 126346036 126347025 TRIB1 S chr8_126442057_126442609_11010_4 1 . -1 -1 . -1 . . . . . . . chr8 126441327 126444529 TRIB1 S chr8_125642109_125642296_11100_2:chr8_126137919_126138218_10000_3:chr8_126656836_126656911_10100_1 3 . -1 -1 . -1 . . . . . . . chr8 126441416 126441734 TRIB1 F chr8_126442057_126442609_11010_4 1 . -1 -1 . -1 . . . . . . . chr8 126656660 126656911 TRIB1 S chr8_126442057_126442609_11010_4 1 . -1 -1 . -1 . . . . . . . chr8 128746198 128746666 MYC S chr8_129567426_129567884_11111_4:chr8_129568733_129569202_11111_4 2 . -1 -1 . -1 . . . . . . . chr8 128747134 128751373 MYC S chr8_129179691_129179954_10000_3:chr8_129180621_129180903_11000_2:chr8_129567426_129567884_11111_4:chr8_129568733_129569202_11111_4 4 chr8 128750540 128750541 CM057723 + 1 DP rs4645959 MYC Breast cancer: increased risk: association with TGCCCCTCAACGTTAGCTTCACCAACAGGA[A/G]CTATGACCTCGACTACGACTCGGTGCAGCC 15929079 chr8 129567426 129569834 MYC S chr8_128746273_128746560_11110_2 1 . -1 -1 . -1 . . . . . . . chr8 134580779 134581429 ST3GAL1 F chr8_134582565_134582679_10000_1:chr8_134582864_134583127_10010_2:chr8_134584024_134584468_10000_2 3 . -1 -1 . -1 . . . . . . . chr8 136467013 136467451 KHDRBS3 F chr8_136469290_136469472_10100_1 1 . -1 -1 . -1 . . . . . . . chr8 141645902 141646418 AGO2 S chr8_141983290_141983536_11000_3 1 . -1 -1 . -1 . . . . . . . chr8 142141816 142141930 DENND3 F chr8_142140003_142140199_11010_1 1 . -1 -1 . -1 . . . . . . . chr8 142237099 142237665 SLC45A4 F chr8_142238536_142238912_11000_3 1 . -1 -1 . -1 . . . . . . . chr8 143809767 143809928 C8orf55 F chr8_143808449_143809060_11000_2 1 . -1 -1 . -1 . . . . . . . chr8 145013257 145016070 PLEC F chr8_145016163_145016271_11000_1 1 . -1 -1 . -1 . . . . . . . chr8 145015669 145017192 PLEC F chr8_145016163_145016271_11000_1 1 . -1 -1 . -1 . . . . . . . chr8 145015768 145015971 PLEC F chr8_145016163_145016340_11000_1:chr8_145016744_145016897_11011_1 2 . -1 -1 . -1 . . . . . . . chr8 145082472 145087082 SPATC1 F chr8_145082499_145082894_10000_1 1 . -1 -1 . -1 . . . . . . . chr8 145082585 145082760 SPATC1 F chr8_145082499_145082894_10000_1 1 . -1 -1 . -1 . . . . . . . chr9 706395 708585 KANK1 F chr9_708629_708723_10010_1 1 . -1 -1 . -1 . . . . . . . chr9 706395 708801 KANK1 F chr9_708629_708803_10010_1 1 . -1 -1 . -1 . . . . . . . chr9 708345 708423 KANK1 F chr9_706972_707229_11100_3 1 . -1 -1 . -1 . . . . . . . chr9 708443 708758 KANK1 F chr9_706972_707229_11100_3:chr9_708629_708801_10010_1 2 . -1 -1 . -1 . . . . . . . chr9 2014841 2018526 SMARCA2 F chr9_2017840_2018403_11111_4 1 . -1 -1 . -1 . . . . . . . chr9 2018040 2018611 SMARCA2 F chr9_2015022_2015213_11110_2:chr9_2015713_2015873_11111_1:chr9_2017840_2018403_11111_4 3 . -1 -1 . -1 . . . . . . . chr9 4296901 4297617 GLIS3 F chr9_4297960_4298189_11111_2 1 . -1 -1 . -1 . . . . . . . chr9 5451547 5451984 CD274 F chr9_5450330_5450616_11110_2 1 . -1 -1 . -1 . . . . . . . chr9 5452329 5452752 CD274 F chr9_5450330_5450616_11110_2 1 . -1 -1 . -1 . . . . . . . chr9 5627107 5627559 KIAA1432 F chr9_5627222_5627340_11010_1:chr9_5628990_5629140_11000_1 2 . -1 -1 . -1 . . . . . . . chr9 5627133 5629619 KIAA1432 F chr9_5627222_5627340_11010_1 1 . -1 -1 . -1 . . . . . . . chr9 12775424 12776880 LURAP1L S chr9_12784467_12784812_11001_3 1 . -1 -1 . -1 . . . . . . . chr9 12784077 12785734 LURAP1L S chr9_12776108_12776429_11111_3 1 . -1 -1 . -1 . . . . . . . chr9 14313544 14316386 NFIB F chr9_14316037_14316252_11101_1 1 . -1 -1 . -1 . . . . . . . chr9 14316018 14316353 NFIB F chr9_14313566_14313716_10111_1:chr9_14314512_14314733_10110_2:chr9_14315342_14315511_10110_1:chr9_14316037_14316252_11101_1 4 . -1 -1 . -1 . . . . . . . chr9 19124098 19124309 PLIN2 F chr9_19127434_19127654_10111_1 1 . -1 -1 . -1 . . . . . . . chr9 32524178 32524624 DDX58 F chr9_32524201_32524417_11010_3:chr9_32525301_32525463_10111_1:chr9_32526212_32526690_11101_3 3 . -1 -1 . -1 . . . . . . . chr9 32524201 32526822 DDX58 F chr9_32523962_32524417_11010_3 1 chr9 32526146 32526147 CM091752 - 1 DFP rs10813831 DDX58 Reduced activity: association with gcagaggccggcATGACCACCGAGCAGCGA[C/T]GCAGCCTGCAAGCCTTCCAGGATTATATCC 19324880 chr9 33165457 33166051 B4GALT1 F chr9_33165554_33166113_11111_3:chr9_33167072_33167643_11101_1 2 . -1 -1 . -1 . . . . . . . chr9 33165554 33167856 B4GALT1 F chr9_33165468_33166113_11111_3 1 . -1 -1 . -1 . . . . . . . chr9 33445339 33445789 AQP3 F chr9_33445364_33445589_10101_2:chr9_33446770_33447267_10000_4 2 . -1 -1 . -1 . . . . . . . chr9 33445364 33448131 AQP3 F chr9_33445246_33445589_10101_2 1 . -1 -1 . -1 . . . . . . . chr9 33446270 33446740 AQP3 F chr9_33446770_33447267_10000_4 1 . -1 -1 . -1 . . . . . . . chr9 33446305 33448131 AQP3 F chr9_33446770_33447040_10000_4 1 . -1 -1 . -1 . . . . . . . chr9 33814905 33815171 UBE2R2 F chr9_33816523_33816739_10000_1:chr9_33816837_33817163_10000_1 2 . -1 -1 . -1 . . . . . . . chr9 34178502 34180142 UBAP1 F chr9_34179880_34180383_10101_2 1 . -1 -1 . -1 . . . . . . . chr9 34179799 34180083 UBAP1 F chr9_34178919_34179050_10111_1:chr9_34179880_34180142_10101_2 2 . -1 -1 . -1 . . . . . . . chr9 34986458 34986973 DNAJB5 F chr9_34989097_34989513_10101_2 1 . -1 -1 . -1 . . . . . . . chr9 35114116 35114547 KIAA1539 F chr9_35115893_35116373_11111_1 1 . -1 -1 . -1 . . . . . . . chr9 35116937 35117148 FAM214B S chr9_35511005_35511326_11111_3:chr9_35511573_35511624_10000_1 2 . -1 -1 . -1 . . . . . . . chr9 35491656 35492052 RUSC2 F chr9_35489506_35489537_11100_1:chr9_35489914_35490469_11100_1 2 . -1 -1 . -1 . . . . . . . chr9 35492185 35492605 RUSC2 F chr9_35489506_35489537_11100_1:chr9_35489914_35490469_11100_1 2 . -1 -1 . -1 . . . . . . . chr9 35907858 35908401 HRCT1 F chr9_35906049_35906268_11000_3:chr9_35907092_35907263_10000_1 2 . -1 -1 . -1 . . . . . . . chr9 36039800 36039974 RECK F chr9_36037637_36037784_10000_1 1 . -1 -1 . -1 . . . . . . . chr9 37033975 37037027 PAX5 F chr9_37037016_37037126_10000_1 1 . -1 -1 . -1 . . . . . . . chr9 37036641 37037011 PAX5 F chr9_37037016_37037027_10000_1 1 . -1 -1 . -1 . . . . . . . chr9 37079337 37080599 ENSG00000232920 S chr9_38047800_38048042_11001_4:chr9_38048588_38048662_11000_1 2 . -1 -1 . -1 . . . . . . . chr9 37591983 37592808 TOMM5 S chr9_38024004_38024200_10100_3:chr9_38047800_38048042_11001_4:chr9_38048588_38048662_11000_1 3 . -1 -1 . -1 . . . . . . . chr9 37800416 37801674 EXOSC3 S chr9_38047800_38048042_11001_4:chr9_38048588_38048662_11000_1 2 . -1 -1 . -1 . . . . . . . chr9 38023800 38024200 TOMM5 S chr9_37592509_37592746_11111_2 1 . -1 -1 . -1 . . . . . . . chr9 38047800 38048662 ENSG00000232920 S chr9_37079511_37079989_11110_1 1 . -1 -1 . -1 . . . . . . . chr9 38047800 38048662 EXOSC3 S chr9_37800666_37800878_11100_1 1 . -1 -1 . -1 . . . . . . . chr9 38047800 38048662 TOMM5 S chr9_37592509_37592746_11111_2 1 . -1 -1 . -1 . . . . . . . chr9 38066980 38067628 SHB F chr9_38069707_38069710_11110_2 1 . -1 -1 . -1 . . . . . . . chr9 38388257 38393161 ALDH1B1 F chr9_38388389_38388877_11010_3 1 . -1 -1 . -1 . . . . . . . chr9 38388338 38388577 ALDH1B1 F chr9_38388389_38389184_11010_3:chr9_38389514_38389658_11111_1:chr9_38392682_38392799_11100_1 3 . -1 -1 . -1 . . . . . . . chr9 71393578 71393897 FAM122A F chr9_71394861_71394971_10100_1:chr9_71395374_71395464_10111_1 2 . -1 -1 . -1 . . . . . . . chr9 71788470 71792088 TJP2 F chr9_71791848_71792036_11000_1 1 . -1 -1 . -1 . . . . . . . chr9 71789916 71790363 TJP2 F chr9_71788712_71789192_11100_1 1 . -1 -1 . -1 . . . . . . . chr9 71791709 71792066 TJP2 F chr9_71788712_71789192_11100_1:chr9_71791848_71792036_11000_1 2 . -1 -1 . -1 . . . . . . . chr9 73025885 73026723 KLF9 F chr9_73028813_73029062_11111_3 1 . -1 -1 . -1 . . . . . . . chr9 78507446 78507579 PCSK5 F chr9_78505059_78505140_11110_2:chr9_78505424_78505585_10101_1 2 . -1 -1 . -1 . . . . . . . chr9 80910988 80912559 PSAT1 F chr9_80911329_80911465_11000_1 1 . -1 -1 . -1 . . . . . . . chr9 80911003 80911373 PSAT1 F chr9_80911329_80911465_11000_1:chr9_80911710_80911993_11111_3 2 . -1 -1 . -1 . . . . . . . chr9 82183644 82184027 TLE4 F chr9_82186789_82186915_11111_1 1 . -1 -1 . -1 . . . . . . . chr9 84137738 84138405 TLE1 S chr9_84301709_84302127_10010_4:chr9_84302753_84302879_10000_1 2 . -1 -1 . -1 . . . . . . . chr9 84301709 84303162 TLE1 S chr9_84138195_84138361_10010_1 1 . -1 -1 . -1 . . . . . . . chr9 88357534 88357780 AGTPBP1 F chr9_88356504_88356651_10000_1:chr9_88356912_88357067_10000_1 2 . -1 -1 . -1 . . . . . . . chr9 88358353 88358730 AGTPBP1 F chr9_88356504_88356651_10000_1:chr9_88356912_88357067_10000_1 2 . -1 -1 . -1 . . . . . . . chr9 90110115 90110289 DAPK1 F chr9_90112426_90112629_10000_2 1 . -1 -1 . -1 . . . . . . . chr9 90115567 90115708 DAPK1 F chr9_90112426_90112629_10000_2:chr9_90114182_90114620_10000_2 2 . -1 -1 . -1 . . . . . . . chr9 90337110 90337856 CTSL1 F chr9_90340763_90341136_00000_2 1 . -1 -1 . -1 . . . . . . . chr9 91147225 91150516 NXNL2 F chr9_91147263_91147431_10000_2 1 . -1 -1 . -1 . . . . . . . chr9 91147328 91147523 NXNL2 F chr9_91147263_91147431_10000_2 1 . -1 -1 . -1 . . . . . . . chr9 91793181 91795603 SHC3 F chr9_91794836_91795090_11000_1:chr9_91795260_91795574_11010_1 2 . -1 -1 . -1 . . . . . . . chr9 91795136 91795669 SHC3 F chr9_91794778_91795090_11000_1:chr9_91795260_91795574_11010_1 2 . -1 -1 . -1 . . . . . . . chr9 92218572 92220427 GADD45G F chr9_92218686_92218859_11101_1 1 . -1 -1 . -1 . . . . . . . chr9 92218643 92218902 GADD45G F chr9_92218686_92218859_11101_1:chr9_92219723_92219895_11111_1 2 . -1 -1 . -1 . . . . . . . chr9 93958200 93961209 NFIL3 S chr9_94186307_94186540_10000_2:chr9_94186800_94187010_11000_2 2 . -1 -1 . -1 . . . . . . . chr9 94182228 94186644 NFIL3 F chr9_94181959_94182247_11010_4:chr9_94182599_94182765_11000_2 2 . -1 -1 . -1 . . . . . . . chr9 94182259 94182597 NFIL3 F chr9_94182228_94182247_11010_4:chr9_94182599_94182765_11000_2:chr9_94184476_94184623_11010_1:chr9_94185096_94185742_11010_3:chr9_94186307_94186540_10000_2 5 . -1 -1 . -1 . . . . . . . chr9 94186010 94187139 NFIL3 S chr9_93958200_93958432_11000_2:chr9_93959485_93959845_11010_3:chr9_93960090_93960391_11010_3 3 . -1 -1 . -1 . . . . . . . chr9 95526737 95527882 BICD2 S chr9_96075357_96075541_10000_1 1 . -1 -1 . -1 . . . . . . . chr9 95860928 95861146 C9orf89 F chr9_95857949_95858097_11010_1 1 . -1 -1 . -1 . . . . . . . chr9 95894467 95895029 NINJ1 F chr9_95895583_95896097_11111_3 1 . -1 -1 . -1 . . . . . . . chr9 96074550 96075601 BICD2 S chr9_95527176_95527406_11000_1 1 . -1 -1 . -1 . . . . . . . chr9 97400572 97402423 FBP1 F chr9_97400650_97400872_10000_1 1 chr9 97401473 97401474 CI096650 - 6 DM NULL FBP1 Fructose-1:6-bisphosphatase deficiency GTTGACCCAGCTGCTCAACTCGCTCTGCAC[-/CTGCAC]AGCAGTCAAAGCCATCTCTTCGGCGGTGCG 19259699 chr9 97400572 97402423 FBP1 F chr9_97400650_97400872_10000_1 1 chr9 97401505 97401506 CM970523 - 1 DM rs121918190 FBP1 Fructose-1:6-bisphosphatase deficiency GAGGAGGGCAGGAAGGCCCGCGGCACGGGC[G/T]AGTTGACCCAGCTGCTCAACTCGCTCTGCA 9382095 chr9 97400572 97402423 FBP1 F chr9_97400650_97400872_10000_1 1 chr9 97401558 97401559 CD991711 - 5 DM NULL FBP1 Fructose-1:6-bisphosphatase deficiency CTGACCAGGCGCCCTTCGACACGGACGTCA[A/-]CACCCTGACCCGCTTCGTCATGGAGGAGGG 10234608 chr9 97400572 97403031 FBP1 F chr9_97400650_97400872_10000_1 1 chr9 97401473 97401474 CI096650 - 6 DM NULL FBP1 Fructose-1:6-bisphosphatase deficiency GTTGACCCAGCTGCTCAACTCGCTCTGCAC[-/CTGCAC]AGCAGTCAAAGCCATCTCTTCGGCGGTGCG 19259699 chr9 97400572 97403031 FBP1 F chr9_97400650_97400872_10000_1 1 chr9 97401505 97401506 CM970523 - 1 DM rs121918190 FBP1 Fructose-1:6-bisphosphatase deficiency GAGGAGGGCAGGAAGGCCCGCGGCACGGGC[G/T]AGTTGACCCAGCTGCTCAACTCGCTCTGCA 9382095 chr9 97400572 97403031 FBP1 F chr9_97400650_97400872_10000_1 1 chr9 97401558 97401559 CD991711 - 5 DM NULL FBP1 Fructose-1:6-bisphosphatase deficiency CTGACCAGGCGCCCTTCGACACGGACGTCA[A/-]CACCCTGACCCGCTTCGTCATGGAGGAGGG 10234608 chr9 97400696 97400848 FBP1 F chr9_97400650_97400872_10000_1:chr9_97400650_97400872_10000_1:chr9_97401702_97402423_10010_2:chr9_97401702_97402549_10010_2 4 . -1 -1 . -1 . . . . . . . chr9 98273012 98273438 PTCH1 F chr9_98270190_98270308_10010_1:chr9_98270190_98270308_10010_1:chr9_98270190_98270308_10010_1 3 . -1 -1 . -1 . . . . . . . chr9 100265790 100266140 TMOD1 F chr9_100263399_100263514_11010_1:chr9_100263420_100263514_11010_1 2 . -1 -1 . -1 . . . . . . . chr9 100880117 100881980 TRIM14 F chr9_100880649_100880731_10111_2 1 . -1 -1 . -1 . . . . . . . chr9 100880117 100881988 TRIM14 F chr9_100880649_100880731_10111_2 1 . -1 -1 . -1 . . . . . . . chr9 100880203 100880431 TRIM14 F chr9_100880649_100880878_10111_2:chr9_100880649_100880878_10111_2:chr9_100881468_100881657_11101_1:chr9_100881468_100881657_11101_1 4 . -1 -1 . -1 . . . . . . . chr9 101015938 101016120 TBC1D2 F chr9_101017707_101018116_11110_1 1 . -1 -1 . -1 . . . . . . . chr9 107509468 107511184 NIPSNAP3A F chr9_107510418_107510526_10000_1 1 . -1 -1 . -1 . . . . . . . chr9 107510718 107511248 NIPSNAP3A F chr9_107510411_107510526_10000_1 1 . -1 -1 . -1 . . . . . . . chr9 109623887 109624414 ZNF462 F chr9_109623950_109624003_10101_1 1 . -1 -1 . -1 . . . . . . . chr9 109623950 109625878 ZNF462 F chr9_109623878_109624003_10101_1 1 . -1 -1 . -1 . . . . . . . chr9 112260092 112262461 PTPN3 F chr9_112262110_112262223_11110_1 1 . -1 -1 . -1 . . . . . . . chr9 112262069 112262452 PTPN3 F chr9_112262110_112262223_11110_1 1 . -1 -1 . -1 . . . . . . . chr9 113014576 113014999 TXN F chr9_113014874_113015097_11000_1:chr9_113016795_113016942_10001_1:chr9_113018721_113019095_11100_2 3 . -1 -1 . -1 . . . . . . . chr9 113014587 113019420 TXN F chr9_113014874_113015097_11000_1 1 . -1 -1 . -1 . . . . . . . chr9 115509312 115509740 SNX30 F chr9_115512828_115512969_11100_1 1 . -1 -1 . -1 . . . . . . . chr9 115914968 115915416 SLC31A2 F chr9_115913145_115913260_11101_1:chr9_115914116_115914285_10100_1 2 . -1 -1 . -1 . . . . . . . chr9 115981344 115981857 FKBP15 F chr9_115983547_115983828_11000_2 1 . -1 -1 . -1 . . . . . . . chr9 115982258 115982474 FKBP15 F chr9_115983547_115983828_11000_2 1 . -1 -1 . -1 . . . . . . . chr9 116341254 116341479 RGS3 F chr9_116342914_116343102_10010_2 1 . -1 -1 . -1 . . . . . . . chr9 116838762 116839058 AMBP S chr9_116415125_116415493_11000_4 1 . -1 -1 . -1 . . . . . . . chr9 117349493 117351394 ATP6V1G1 F chr9_117350716_117350861_10000_1 1 . -1 -1 . -1 . . . . . . . chr9 117351016 117351370 ATP6V1G1 F chr9_117349493_117349642_10000_2:chr9_117349789_117350108_11101_1:chr9_117350666_117350861_10000_1 3 . -1 -1 . -1 . . . . . . . chr9 126690044 126692917 DENND1A F chr9_126689909_126690315_11000_2 1 . -1 -1 . -1 . . . . . . . chr9 126690123 126690365 DENND1A F chr9_126690044_126690315_11000_2:chr9_126691491_126691669_10000_2 2 . -1 -1 . -1 . . . . . . . chr9 130160135 130160590 SLC2A8 S chr9_129261830_129261943_11000_1:chr9_130717737_130717787_10000_2:chr9_130717933_130718209_10000_2 3 . -1 -1 . -1 . . . . . . . chr9 130328926 130329278 FAM129B F chr9_130329729_130329929_10000_1 1 . -1 -1 . -1 . . . . . . . chr9 130329419 130331855 FAM129B F chr9_130329729_130329929_10000_1 1 . -1 -1 . -1 . . . . . . . chr9 130329548 130329691 FAM129B F chr9_130329729_130329929_10000_1 1 . -1 -1 . -1 . . . . . . . chr9 130717492 130717787 LRRC8A S chr9_131642337_131642719_11101_4 1 . -1 -1 . -1 . . . . . . . chr9 130717933 130718462 LRRC8A S chr9_131642337_131642719_11101_4 1 . -1 -1 . -1 . . . . . . . chr9 130717933 130718462 WDR34 S chr9_131397693_131398488_10010_1 1 . -1 -1 . -1 . . . . . . . chr9 130880209 130880426 ENSG00000234771 S chr9_130717933_130718209_10000_2 1 . -1 -1 . -1 . . . . . . . chr9 131103735 131103927 23883 S chr9_130717933_130718209_10000_2 1 . -1 -1 . -1 . . . . . . . chr9 131397387 131397576 WDR34 S chr9_130717933_130718209_10000_2 1 . -1 -1 . -1 . . . . . . . chr9 131397687 131398667 WDR34 S chr9_130717933_130718209_10000_2 1 chr9 131398647 131398648 CM1311130 - 1 DM rs148543026 WDR34 Jeune asphyxiating thoracic dystrophy TGTGCCTGGAACCTGGACCGGCGAGACCTG[C/T]GTCCCCAGCAGCCGTCGGCCGTGGTGGAGG 24183451 chr9 131641800 131642952 LRRC8A S chr9_130717737_130717787_10000_2:chr9_130717933_130718209_10000_2 2 . -1 -1 . -1 . . . . . . . chr9 131937094 131937487 IER5L F chr9_131938139_131938722_11000_2 1 . -1 -1 . -1 . . . . . . . chr9 132962371 132964117 NCS1 F chr9_132964357_132964428_11000_1 1 . -1 -1 . -1 . . . . . . . chr9 133319593 133321364 ASS1 F chr9_133320981_133321223_11111_2:chr9_133321535_133321606_11101_2 2 . -1 -1 . -1 . . . . . . . chr9 133321021 133321306 ASS1 F chr9_133319593_133319716_11111_2:chr9_133320108_133320271_11111_1:chr9_133320981_133321223_11111_2 3 . -1 -1 . -1 . . . . . . . chr9 134581441 134585729 RAPGEF1 F chr9_134581482_134581737_11000_2:chr9_134581998_134582083_10000_1 2 . -1 -1 . -1 . . . . . . . chr9 134581500 134581783 RAPGEF1 F chr9_134581482_134581737_11000_2:chr9_134581998_134582272_10000_1:chr9_134583617_134584249_11000_4 3 . -1 -1 . -1 . . . . . . . chr9 134583160 134585729 RAPGEF1 F chr9_134583617_134583845_11000_4 1 . -1 -1 . -1 . . . . . . . chr9 134583176 134583545 RAPGEF1 F chr9_134583617_134584249_11000_4 1 . -1 -1 . -1 . . . . . . . chr9 134608936 134609538 RAPGEF1 F chr9_134609724_134609956_11110_1:chr9_134610919_134611241_11111_3 2 . -1 -1 . -1 . . . . . . . chr9 134609037 134613425 RAPGEF1 F chr9_134609724_134609838_11110_1 1 . -1 -1 . -1 . . . . . . . chr9 134609529 134613425 RAPGEF1 F chr9_134609724_134609956_11110_1 1 . -1 -1 . -1 . . . . . . . chr9 134609553 134609906 RAPGEF1 F chr9_134609724_134609956_11110_1:chr9_134610919_134611241_11111_3 2 . -1 -1 . -1 . . . . . . . chr9 134610888 134611363 RAPGEF1 F chr9_134610925_134611241_11111_3 1 . -1 -1 . -1 . . . . . . . chr9 134610925 134613425 RAPGEF1 F chr9_134610919_134611241_11111_3 1 . -1 -1 . -1 . . . . . . . chr9 134611400 134611579 RAPGEF1 S chr9_134610919_134611241_11111_3 1 . -1 -1 . -1 . . . . . . . chr9 134953880 134954115 MED27 F chr9_134955219_134955357_11110_1 1 . -1 -1 . -1 . . . . . . . chr9 136856503 136857946 VAV2 F chr9_136856526_136856690_10100_1 1 . -1 -1 . -1 . . . . . . . chr9 136856624 136856782 VAV2 F chr9_136856526_136856690_10100_1:chr9_136857201_136857501_11101_2 2 . -1 -1 . -1 . . . . . . . chr9 137215534 137218816 RXRA F chr9_137215587_137216008_10100_1 1 . -1 -1 . -1 . . . . . . . chr9 137215635 137215833 RXRA F chr9_137215587_137216008_10100_1:chr9_137216886_137217245_10101_1:chr9_137217422_137217622_10001_1:chr9_137218237_137218352_10100_1 4 . -1 -1 . -1 . . . . . . . chr9 137217815 137221331 RXRA F chr9_137220769_137221264_11101_2 1 . -1 -1 . -1 . . . . . . . chr9 137221069 137221192 RXRA F chr9_137218237_137218352_10100_1:chr9_137220430_137221264_11101_2 2 . -1 -1 . -1 . . . . . . . chr9 138796821 138799505 CAMSAP1 F chr9_138796954_138797101_10000_1 1 . -1 -1 . -1 . . . . . . . chr9 138796932 138797111 CAMSAP1 F chr9_138796954_138797101_10000_1 1 . -1 -1 . -1 . . . . . . . chr9 138985883 138987631 NACC2 F chr9_138986039_138986259_11000_1 1 . -1 -1 . -1 . . . . . . . chr9 138986008 138986159 NACC2 F chr9_138986039_138986259_11000_1:chr9_138987056_138987207_10101_1 2 . -1 -1 . -1 . . . . . . . chr9 139136338 139136616 QSOX2 F chr9_139137614_139137739_10010_1 1 . -1 -1 . -1 . . . . . . . chr9 140091146 140095663 TPRN F chr9_140091246_140091459_10000_1 1 chr9 140093634 140093635 CD101479 - 5 DM NULL TPRN Deafness: nonsyndromic CTTCACAGTGGTGCCCAAGAGGAAGCCAGG[G/-]ACTCTGCAGGACCAGCACTTCAGTCAGGCC 20170898 chr9 140091146 140095663 TPRN F chr9_140091246_140091459_10000_1 1 chr9 140093737 140093738 CD101519 - 5 DM NULL TPRN Deafness: nonsyndromic CCCCCCAAGCAGCCAAACTACCCTACCTCC[C/-]GCACCCTGCCAGGCCTCTGCACCCTGCCAG 20170899 chr9 140091146 140095663 TPRN F chr9_140091246_140091459_10000_1 1 chr9 140093925 140093926 CM101517 - 1 DM rs267607135 TPRN Deafness: nonsyndromic CACCGCCCTCGCTGACCGGGCTATTAGGTG[G/A]CAGAGGCCGTCCTCACCGCCCCCCTTCCTG 20170899 chr9 140091146 140095663 TPRN F chr9_140091246_140091459_10000_1 1 chr9 140094926 140094927 CI101518 - 6 DM NULL TPRN Deafness: nonsyndromic CGCGGCGGGGGCGCGGCGGGGGCGCGGCTG[-/GGGCGCGGCTG]CTGGAGCGGTACCGCCGCGTGCCTGGCGTG 20170899 chr9 140091146 140095663 TPRN F chr9_140091246_140091459_10000_1 1 chr9 140094929 140094939 CD101480 - 5 DM NULL TPRN Deafness: nonsyndromic GGCCGAGCGGCGGCGCGGCGGGGGCGCGGC[GGGGGCGCGGC/-]TGCTGGAGCGGTACCGCCGCGTGCCTGGCG 20170898 chr9 140091235 140091458 TPRN F chr9_140091246_140091459_10000_1:chr9_140092469_140092828_10101_1:chr9_140095282_140095663_10101_1 3 . -1 -1 . -1 . . . . . . . chr9 140117588 140118357 RNF208 F chr9_140116134_140116404_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 5023917 5024420 ENSG00000196139 S chr10_5136476_5136649_10000_2 1 . -1 -1 . -1 . . . . . . . chr10 5023917 5024420 ENSG00000228685 S chr10_5665210_5665285_10100_1 1 . -1 -1 . -1 . . . . . . . chr10 6017920 6020074 IL15RA F chr10_6017963_6018163_11110_1 1 . -1 -1 . -1 . . . . . . . chr10 6017924 6018316 IL15RA F chr10_6017963_6018163_11110_1 1 . -1 -1 . -1 . . . . . . . chr10 6128475 6131449 RBM17 F chr10_6128408_6128583_11000_1 1 . -1 -1 . -1 . . . . . . . chr10 6128475 6131809 RBM17 F chr10_6128408_6128583_11000_1 1 . -1 -1 . -1 . . . . . . . chr10 6128477 6128873 RBM17 F chr10_6128475_6128583_11000_1:chr10_6128475_6128583_11000_1:chr10_6130850_6130960_11000_1:chr10_6130850_6130960_11000_1 4 . -1 -1 . -1 . . . . . . . chr10 6242558 6245340 PFKFB3 F chr10_6242684_6242900_10010_2 1 . -1 -1 . -1 . . . . . . . chr10 6242613 6242903 PFKFB3 F chr10_6242684_6242900_10010_2:chr10_6244765_6244890_11110_1 2 . -1 -1 . -1 . . . . . . . chr10 6243287 6243821 PFKFB3 F chr10_6244765_6244890_11110_1 1 . -1 -1 . -1 . . . . . . . chr10 6245814 6246792 PFKFB3 F chr10_6244765_6244890_11110_1 1 . -1 -1 . -1 . . . . . . . chr10 7449887 7450154 SFMBT2 F chr10_7451878_7452032_10010_1 1 . -1 -1 . -1 . . . . . . . chr10 7860128 7861267 TAF3 S chr10_7729273_7729431_11100_1:chr10_7974400_7974479_10001_1 2 . -1 -1 . -1 . . . . . . . chr10 11651765 11651937 USP6NL F chr10_11652837_11653007_11101_1:chr10_11654157_11654179_10111_1 2 . -1 -1 . -1 . . . . . . . chr10 11652754 11654179 USP6NL F chr10_11652837_11653007_11101_1 1 . -1 -1 . -1 . . . . . . . chr10 11652835 11653073 USP6NL F chr10_11652837_11653007_11101_1:chr10_11654157_11654179_10111_1 2 . -1 -1 . -1 . . . . . . . chr10 11864896 11867186 C10orf47 F chr10_11866602_11866669_11111_2:chr10_11867009_11867213_11111_1 2 . -1 -1 . -1 . . . . . . . chr10 11866902 11867068 C10orf47 F chr10_11865270_11865384_11100_1:chr10_11866503_11866669_11111_2:chr10_11867009_11867186_11111_1 3 . -1 -1 . -1 . . . . . . . chr10 13391797 13392252 SEPHS1 F chr10_13390285_13390508_11110_3:chr10_13390971_13391194_11011_1 2 . -1 -1 . -1 . . . . . . . chr10 18549083 18551082 CACNB2 F chr10_18550659_18551251_10000_2 1 chr10 18549641 18549642 CR109071 + 3 DFP rs2357928 cacnb2i1 Adverse response to antihypertensive drugs: assoc with CAGAGGTAACAGTGAATCCAGGATGCTGCT[A/G]TCAGCCTGTGCATTGTGAAGAAGGCAATCA 21156931 chr10 18550812 18550951 CACNB2 F chr10_18550659_18551082_10000_2 1 . -1 -1 . -1 . . . . . . . chr10 27147453 27147834 ABI1 F chr10_27149849_27150361_11111_3 1 . -1 -1 . -1 . . . . . . . chr10 27530567 27532205 ACBD5 F chr10_27532087_27532243_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 27531769 27532240 ACBD5 F chr10_27531005_27531157_10000_1:chr10_27532087_27532205_10000_1 2 . -1 -1 . -1 . . . . . . . chr10 30720407 30720642 MAP3K8 F chr10_30722710_30722820_11000_1:chr10_30723394_30723450_11111_2 2 . -1 -1 . -1 . . . . . . . chr10 32496274 32496517 EPC1 S chr10_32635070_32635279_11000_1 1 . -1 -1 . -1 . . . . . . . chr10 32635007 32636618 EPC1 S chr10_33619656_33619712_10100_1 1 . -1 -1 . -1 . . . . . . . chr10 33227085 33227800 EPC1 S chr10_32635070_32635279_11000_1 1 . -1 -1 . -1 . . . . . . . chr10 33234000 33234077 EPC1 S chr10_32635070_32635279_11000_1 1 . -1 -1 . -1 . . . . . . . chr10 33619656 33620200 EPC1 S chr10_32635070_32635279_11000_1 1 . -1 -1 . -1 . . . . . . . chr10 33621073 33624333 NRP1 F chr10_33621113_33621391_11010_2 1 . -1 -1 . -1 . . . . . . . chr10 33621123 33621423 NRP1 F chr10_33621113_33621391_11010_2:chr10_33623830_33623968_10010_1 2 . -1 -1 . -1 . . . . . . . chr10 34502682 34502774 CREM S chr10_35416171_35416323_11100_1 1 . -1 -1 . -1 . . . . . . . chr10 35932153 35932694 FZD8 F chr10_35931112_35931392_11000_1 1 . -1 -1 . -1 . . . . . . . chr10 38145985 38150070 ZNF248 F chr10_38149820_38149960_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 38149659 38150080 ZNF248 F chr10_38146546_38146657_11010_1:chr10_38149820_38149960_10000_1 2 . -1 -1 . -1 . . . . . . . chr10 38264185 38264489 ZNF25 F chr10_38265421_38265648_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 43635714 43636276 CSGALNACT2 F chr10_43634440_43634550_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 43905259 43905708 HNRNPF F chr10_43904224_43904735_10000_2:chr10_43904224_43904735_10000_2:chr10_43904224_43904735_10000_2 3 . -1 -1 . -1 . . . . . . . chr10 45868713 45870129 ALOX5 F chr10_45868683_45868850_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 45868742 45869084 ALOX5 F chr10_45868713_45868850_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 50395906 50398412 C10orf128 F chr10_50398097_50398275_10000_3 1 . -1 -1 . -1 . . . . . . . chr10 50398133 50398290 C10orf128 F chr10_50398097_50398275_10000_3 1 . -1 -1 . -1 . . . . . . . chr10 51559259 51560591 ENSG00000138293 S chr10_51572367_51572607_11000_2 1 . -1 -1 . -1 . . . . . . . chr10 51559259 51560591 SGMS1 S chr10_52381885_52382087_10000_2:chr10_52383697_52383844_10000_1:chr10_52384342_52385272_10000_3 3 . -1 -1 . -1 . . . . . . . chr10 51571863 51574898 NCOA4 F chr10_51574593_51574796_11000_3 1 . -1 -1 . -1 . . . . . . . chr10 51572035 51572735 ENSG00000138293 S chr10_51559292_51559542_10000_2 1 . -1 -1 . -1 . . . . . . . chr10 51574472 51574922 NCOA4 F chr10_51572367_51572607_11000_2:chr10_51574593_51574796_11000_3:chr10_51574593_51574796_11000_3:chr10_51575862_51576365_11000_3 4 . -1 -1 . -1 . . . . . . . chr10 51574497 51576785 NCOA4 F chr10_51574593_51574796_11000_3 1 . -1 -1 . -1 . . . . . . . chr10 52381851 52382087 SGMS1 S chr10_51559292_51559542_10000_2 1 . -1 -1 . -1 . . . . . . . chr10 52382927 52385398 SGMS1 S chr10_51559292_51559542_10000_2 1 . -1 -1 . -1 . . . . . . . chr10 60026000 60028194 IPMK F chr10_60026131_60026380_10000_2 1 . -1 -1 . -1 . . . . . . . chr10 60026015 60026385 IPMK F chr10_60026131_60026380_10000_2:chr10_60026713_60026878_10000_1:chr10_60027785_60027912_10000_1 3 . -1 -1 . -1 . . . . . . . chr10 61664562 61664999 CCDC6 F chr10_61666294_61666408_11010_1:chr10_61666561_61666854_11110_1 2 . -1 -1 . -1 . . . . . . . chr10 62330469 62330833 ANK3 F chr10_62332248_62332616_11100_2 1 . -1 -1 . -1 . . . . . . . chr10 63657432 63661513 ARID5B F chr10_63657505_63657791_11111_1 1 . -1 -1 . -1 . . . . . . . chr10 63657527 63657737 ARID5B F chr10_63657505_63657791_11111_1:chr10_63659732_63660178_11111_3:chr10_63660454_63660890_11111_1:chr10_63661308_63661513_11111_2 4 . -1 -1 . -1 . . . . . . . chr10 63658924 63659147 ARID5B F chr10_63659732_63660178_11111_3:chr10_63660454_63660890_11111_1:chr10_63661308_63661513_11111_2 3 . -1 -1 . -1 . . . . . . . chr10 63660512 63663879 ARID5B F chr10_63663245_63663627_10111_2 1 . -1 -1 . -1 . . . . . . . chr10 63663540 63663817 ARID5B F chr10_63660512_63660890_11111_1:chr10_63661308_63661538_11111_2:chr10_63662646_63662885_11111_1:chr10_63663245_63663627_10111_2 4 . -1 -1 . -1 . . . . . . . chr10 70088080 70088572 HNRNPH3 F chr10_70088126_70088314_10010_1:chr10_70091505_70091877_10010_2 2 . -1 -1 . -1 . . . . . . . chr10 70088126 70092268 HNRNPH3 F chr10_70088102_70088314_10010_1 1 . -1 -1 . -1 . . . . . . . chr10 73099600 73100582 DDIT4 S chr10_74032564_74032867_11111_3:chr10_74033335_74033786_11111_2 2 . -1 -1 . -1 . . . . . . . chr10 73529064 73529499 C10orf54 F chr10_73530686_73530827_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 73530522 73531091 C10orf54 F chr10_73530686_73530827_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 73530606 73533837 C10orf54 F chr10_73530686_73530827_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 73612356 73612502 PSAP F chr10_73610945_73611220_11000_1 1 . -1 -1 . -1 . . . . . . . chr10 74032323 74035129 DDIT4 S chr10_73099956_73100218_10100_4 1 . -1 -1 . -1 . . . . . . . chr10 74453097 74453245 CCDC109A F chr10_74451696_74451846_11101_1 1 . -1 -1 . -1 . . . . . . . chr10 75334932 75338057 USP54 F chr10_75337693_75337913_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 75337715 75337998 USP54 F chr10_75336044_75336259_10000_3:chr10_75337693_75337913_10000_1 2 . -1 -1 . -1 . . . . . . . chr10 77164585 77164731 ZNF503 F chr10_77162139_77162307_11000_2 1 . -1 -1 . -1 . . . . . . . chr10 80826727 80827482 ZMIZ1 S chr10_80865266_80865290_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 80828291 80831209 ZMIZ1 F chr10_80830889_80831238_11111_3 1 . -1 -1 . -1 . . . . . . . chr10 80830818 80831199 ZMIZ1 F chr10_80828601_80828763_10111_2:chr10_80830153_80830295_11111_1:chr10_80830889_80831209_11111_3 3 . -1 -1 . -1 . . . . . . . chr10 80871200 80871529 PPIF S chr10_81107154_81107275_11100_1:chr10_81107683_81108011_11100_2 2 . -1 -1 . -1 . . . . . . . chr10 80916799 80918000 PPIF S chr10_81107154_81107275_11100_1:chr10_81107683_81108011_11100_2 2 . -1 -1 . -1 . . . . . . . chr10 81104618 81104919 PPIF F chr10_81107154_81107275_11100_1:chr10_81107683_81107720_11100_2 2 . -1 -1 . -1 . . . . . . . chr10 81105192 81105332 PPIF F chr10_81107154_81107275_11100_1:chr10_81107683_81107720_11100_2 2 . -1 -1 . -1 . . . . . . . chr10 81106925 81108115 PPIF S chr10_80871304_80871484_10111_2:chr10_80917258_80917592_11111_2 2 . -1 -1 . -1 . . . . . . . chr10 82213537 82215061 TSPAN14 F chr10_82214752_82215042_10001_1 1 . -1 -1 . -1 . . . . . . . chr10 82213537 82215462 TSPAN14 F chr10_82214785_82215042_10001_1 1 . -1 -1 . -1 . . . . . . . chr10 82214819 82214901 TSPAN14 F chr10_82213592_82213857_11001_1:chr10_82214752_82215042_10001_1 2 . -1 -1 . -1 . . . . . . . chr10 82215085 82215437 TSPAN14 F chr10_82213592_82213857_11001_1:chr10_82214752_82215042_10001_1 2 . -1 -1 . -1 . . . . . . . chr10 82297157 82299797 SH2D4B F chr10_82299121_82299243_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 82299396 82301075 SH2D4B F chr10_82299121_82299243_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 82299421 82299771 SH2D4B F chr10_82299074_82299243_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 88515895 88517638 BMPR1A F chr10_88517189_88517564_11110_2 1 . -1 -1 . -1 . . . . . . . chr10 88517208 88517667 BMPR1A F chr10_88517189_88517564_11110_2 1 . -1 -1 . -1 . . . . . . . chr10 88713973 88718788 SNCG F chr10_88713736_88713851_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 90611231 90613269 ANKRD22 F chr10_90613108_90613291_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 90612844 90613292 ANKRD22 F chr10_90613108_90613269_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 90643265 90643581 STAMBPL1 F chr10_90640410_90640855_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 91096041 91096297 IFIT3 F chr10_91091889_91092244_11000_1 1 . -1 -1 . -1 . . . . . . . chr10 93504833 93505072 PCGF5 S chr10_92979722_92979990_10100_1 1 . -1 -1 . -1 . . . . . . . chr10 94001133 94001473 CPEB3 F chr10_94002998_94003175_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 94831603 94833732 CYP26A1 F chr10_94831644_94831956_10100_3:chr10_94832219_94832248_10100_1 2 . -1 -1 . -1 . . . . . . . chr10 94831603 94834147 CYP26A1 F chr10_94831644_94831956_10100_3:chr10_94832219_94832248_10100_1 2 chr10 94833890 94833891 CS068378 + 2 FP rs35630863 CYP26A1 Reduced mRNA splicing efficiency ACCTTGCAGATGGTACTGCAGgtaagggag[G/C]gtggggcgggacaggctgcttccccggagc 16463413 chr10 94831659 94831948 CYP26A1 F chr10_94831644_94831956_10100_3:chr10_94831644_94831956_10100_3:chr10_94832219_94832377_10100_1:chr10_94832219_94832377_10100_1 4 . -1 -1 . -1 . . . . . . . chr10 95357000 95357200 RBP4 S chr10_95360951_95361647_11101_4 1 . -1 -1 . -1 . . . . . . . chr10 95513454 95513618 LGI1 F chr10_95517590_95517713_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 97200436 97205399 SORBS1 F chr10_97205058_97205233_11100_2 1 . -1 -1 . -1 . . . . . . . chr10 97205086 97205311 SORBS1 F chr10_97200652_97200767_10000_1:chr10_97203483_97203684_10000_1:chr10_97205058_97205233_11100_2 3 . -1 -1 . -1 . . . . . . . chr10 97319295 97319590 SORBS1 F chr10_97321138_97321335_11000_1 1 . -1 -1 . -1 . . . . . . . chr10 98032542 98032692 BLNK F chr10_98031301_98031574_11101_2 1 . -1 -1 . -1 . . . . . . . chr10 98476098 98476599 PIK3AP1 F chr10_98479142_98479326_11101_1:chr10_98480262_98480418_10101_1 2 . -1 -1 . -1 . . . . . . . chr10 98478120 98479023 PIK3AP1 F chr10_98479142_98479326_11101_1:chr10_98480262_98480418_10101_1 2 . -1 -1 . -1 . . . . . . . chr10 98478371 98480779 PIK3AP1 F chr10_98479142_98479323_11101_1 1 . -1 -1 . -1 . . . . . . . chr10 99401742 99402052 PI4K2A F chr10_99400122_99400505_10000_3 1 . -1 -1 . -1 . . . . . . . chr10 101382479 101382644 SLC25A28 F chr10_101380207_101381540_11101_2 1 . -1 -1 . -1 . . . . . . . chr10 101543856 101543953 ABCC2 F chr10_101542207_101542575_11100_4 1 . -1 -1 . -1 . . . . . . . chr10 101942179 101942274 ERLIN1 F chr10_101943294_101943488_11101_3:chr10_101943294_101943488_11101_3:chr10_101943730_101943922_10101_1:chr10_101943730_101943922_10101_1:chr10_101945721_101945964_11101_1:chr10_101945721_101945964_11101_1 6 . -1 -1 . -1 . . . . . . . chr10 101944283 101944461 ERLIN1 F chr10_101945721_101945964_11101_1:chr10_101945721_101945964_11101_1 2 . -1 -1 . -1 . . . . . . . chr10 103892318 103893884 PPRC1 S chr10_104813592_104813881_10000_3 1 . -1 -1 . -1 . . . . . . . chr10 104263487 104263978 SUFU S chr10_104813592_104813881_10000_3 1 . -1 -1 . -1 . . . . . . . chr10 104403867 104405925 TRIM8 S chr10_104813592_104813881_10000_3 1 . -1 -1 . -1 . . . . . . . chr10 104406463 104406725 TRIM8 F chr10_104403998_104404194_11100_1:chr10_104404777_104405410_11101_3:chr10_104405711_104405998_11100_1 3 . -1 -1 . -1 . . . . . . . chr10 104406801 104407099 TRIM8 F chr10_104403998_104404194_11100_1:chr10_104404777_104405410_11101_3:chr10_104405711_104405998_11100_1 3 . -1 -1 . -1 . . . . . . . chr10 104533606 104534005 C10orf26 F chr10_104534945_104535574_11000_2:chr10_104535948_104536068_11101_1 2 . -1 -1 . -1 . . . . . . . chr10 104813337 104814200 PPRC1 S chr10_103892657_103892767_00000_1 1 . -1 -1 . -1 . . . . . . . chr10 104813337 104814200 TRIM8 S chr10_104403998_104404194_11100_1:chr10_104404777_104405410_11101_3:chr10_104405711_104405925_11100_1 3 . -1 -1 . -1 . . . . . . . chr10 104952562 104957317 NT5C2 F chr10_104956997_104957128_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 104956992 104957240 NT5C2 F chr10_104956997_104957128_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 105417800 105418400 SH3PXD2A S chr10_105419803_105419925_10000_1:chr10_105420033_105420506_11100_1 2 . -1 -1 . -1 . . . . . . . chr10 105419353 105421047 SH3PXD2A S chr10_105417998_105418239_11100_2 1 . -1 -1 . -1 . . . . . . . chr10 106093162 106096779 ITPRIP F chr10_106096544_106096713_10000_2:chr10_106096885_106097170_10000_2 2 . -1 -1 . -1 . . . . . . . chr10 106096287 106096870 ITPRIP F chr10_106096544_106096713_10000_2 1 . -1 -1 . -1 . . . . . . . chr10 106109390 106109845 CCDC147 F chr10_106109417_106109559_11000_3:chr10_106110031_106110175_10000_1 2 . -1 -1 . -1 . . . . . . . chr10 106109417 106114022 CCDC147 F chr10_106109090_106109130_10000_1:chr10_106109338_106109559_11000_3:chr10_106110031_106110145_10000_1 3 . -1 -1 . -1 . . . . . . . chr10 111765225 111766798 ADD3 F chr10_111767057_111767084_11000_1 1 . -1 -1 . -1 . . . . . . . chr10 111981632 111986262 MXI1 F chr10_111981657_111981785_10101_1 1 . -1 -1 . -1 . . . . . . . chr10 111981639 111982026 MXI1 F chr10_111981657_111981785_10101_1:chr10_111985408_111985847_10101_3 2 . -1 -1 . -1 . . . . . . . chr10 112259301 112259712 DUSP5 F chr10_112257604_112257766_11100_1 1 . -1 -1 . -1 . . . . . . . chr10 112261043 112261328 DUSP5 F chr10_112257604_112257766_11100_1 1 . -1 -1 . -1 . . . . . . . chr10 114135455 114140114 ACSL5 F chr10_114139486_114140061_11101_3 1 . -1 -1 . -1 . . . . . . . chr10 114139786 114140040 ACSL5 F chr10_114135455_114135572_11100_1:chr10_114135788_114135990_11101_1:chr10_114139441_114140061_11101_3 3 . -1 -1 . -1 . . . . . . . chr10 114709011 114710509 TCF7L2 F chr10_114708974_114709442_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 114709018 114709405 TCF7L2 F chr10_114709011_114709442_10000_1:chr10_114709800_114710147_10101_3 2 . -1 -1 . -1 . . . . . . . chr10 116163429 116163722 AFAP1L2 F chr10_116164125_116164301_11000_1 1 . -1 -1 . -1 . . . . . . . chr10 118031318 118034509 GFRA1 F chr10_118034254_118034358_10100_1 1 . -1 -1 . -1 . . . . . . . chr10 118032295 118034509 GFRA1 F chr10_118034254_118034358_10100_1 1 . -1 -1 . -1 . . . . . . . chr10 118032625 118034509 GFRA1 F chr10_118034254_118034358_10100_1 1 . -1 -1 . -1 . . . . . . . chr10 118034123 118034494 GFRA1 F chr10_118034254_118034358_10100_1:chr10_118034254_118034358_10100_1:chr10_118034254_118034358_10100_1 3 . -1 -1 . -1 . . . . . . . chr10 119305717 119306203 EMX2 F chr10_119303997_119304386_11100_1 1 . -1 -1 . -1 . . . . . . . chr10 120968752 120969030 GRK5 F chr10_120966915_120967095_11100_1 1 . -1 -1 . -1 . . . . . . . chr10 121410381 121412465 BAG3 F chr10_121412049_121412220_11000_1 1 . -1 -1 . -1 . . . . . . . chr10 121412148 121412380 BAG3 F chr10_121412049_121412220_11000_1 1 . -1 -1 . -1 . . . . . . . chr10 126158935 126159963 FAM53B S chr10_126429919_126430019_11100_1 1 . -1 -1 . -1 . . . . . . . chr10 126429723 126430192 FAM53B F chr10_126429919_126430081_11100_1:chr10_126433368_126433430_11101_1 2 . -1 -1 . -1 . . . . . . . chr10 126429757 126433430 FAM53B F chr10_126429919_126430081_11100_1 1 . -1 -1 . -1 . . . . . . . chr10 126429907 126430019 FAM53B S chr10_126158935_126159830_11101_4 1 . -1 -1 . -1 . . . . . . . chr10 131758339 131758817 EBF3 F chr10_131760913_131761118_11101_1 1 . -1 -1 . -1 . . . . . . . chr10 134349556 134349919 INPP5A F chr10_134351657_134351839_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 135089906 135092397 ADAM8 F chr10_135091817_135091833_10000_2:chr10_135092068_135092220_10000_2 2 . -1 -1 . -1 . . . . . . . chr10 135089906 135092792 ADAM8 F chr10_135092136_135092220_10000_2 1 . -1 -1 . -1 . . . . . . . chr10 135092117 135092276 ADAM8 F chr10_135091280_135091418_10000_1:chr10_135091657_135091833_10000_2:chr10_135092068_135092220_10000_2 3 . -1 -1 . -1 . . . . . . . chr10 135092436 135092746 ADAM8 F chr10_135091280_135091418_10000_1:chr10_135091657_135091833_10000_2:chr10_135092068_135092220_10000_2 3 . -1 -1 . -1 . . . . . . . chr10 135118820 135119258 TUBGCP2 F chr10_135121368_135121535_11000_1 1 . -1 -1 . -1 . . . . . . . chr10 135118839 135123144 TUBGCP2 F chr10_135118520_135118535_10000_1 1 . -1 -1 . -1 . . . . . . . chr10 135119353 135119734 TUBGCP2 F chr10_135121368_135121535_11000_1 1 . -1 -1 . -1 . . . . . . . chr10 135342737 135342867 CYP2E1 F chr10_135340398_135340785_00000_3:chr10_135341374_135341571_00000_1 2 . -1 -1 . -1 . . . . . . . chr11 312288 312763 IFITM1 F chr11_314408_314491_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 313490 316628 IFITM1 F chr11_316266_316438_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 316246 316608 IFITM1 F chr11_314408_314543_10000_1:chr11_315088_315277_10000_2:chr11_316266_316438_10000_1 3 . -1 -1 . -1 . . . . . . . chr11 316965 317318 IFITM1 F chr11_314408_314543_10000_1:chr11_315088_315277_10000_2:chr11_316266_316438_10000_1 3 . -1 -1 . -1 . . . . . . . chr11 449908 451264 PTDSS2 S chr11_587900_588180_10000_3 1 . -1 -1 . -1 . . . . . . . chr11 587800 588400 PTDSS2 S chr11_450180_450352_00000_1 1 . -1 -1 . -1 . . . . . . . chr11 696562 696752 DEAF1 S chr11_587900_588180_10000_3 1 . -1 -1 . -1 . . . . . . . chr11 746931 750157 TALDO1 F chr11_749797_750023_10101_1 1 . -1 -1 . -1 . . . . . . . chr11 749835 750077 TALDO1 F chr11_749797_750023_10101_1 1 . -1 -1 . -1 . . . . . . . chr11 838533 839200 PNPLA2 S chr11_821283_821559_10101_2 1 . -1 -1 . -1 . . . . . . . chr11 838533 839200 PTDSS2 S chr11_450180_450352_00000_1 1 . -1 -1 . -1 . . . . . . . chr11 1328544 1328761 TOLLIP F chr11_1330931_1331212_10001_1 1 . -1 -1 . -1 . . . . . . . chr11 1860931 1864245 TNNI2 F chr11_1863889_1864112_10000_1 1 chr11 1862698 1862699 CM030719 + 1 DM rs104894312 TNNI2 Distal arthrogryposis syndrome 2b ctgccctctcctccacagGAGCGGGACCTG[C/T]GAGACGTGGGTGACTGGAGGAAGAACATCG 12592607 chr11 1860931 1864245 TNNI2 F chr11_1863889_1864112_10000_1 1 chr11 1862716 1862717 CM131697 + 1 DM NULL TNNI2 Distal arthrogryposis syndrome 2b GAGCGGGACCTGCGAGACGTGGGTGACTGG[A/G]GGAAGAACATCGAGGAGAAGTCTGGCATGG 23401156 chr11 1860931 1864245 TNNI2 F chr11_1863889_1864112_10000_1 1 chr11 1862725 1862726 CM137548 + 1 DM NULL TNNI2 Distal arthrogryposis syndrome 2a CTGCGAGACGTGGGTGACTGGAGGAAGAAC[A/T]TCGAGGAGAAGTCTGGCATGGAGGGCCGGA 23850728 chr11 1860931 1864245 TNNI2 F chr11_1863889_1864112_10000_1 1 chr11 1862731 1862733 CD061481 + 5 DM rs199474800 TNNI2 Distal arthrogryposis syndrome 2b GACGTGGGTGACTGGAGGAAGAACATCGAG[GAG/-]AAGTCTGGCATGGAGGGCCGGAAGAAGATG 16497570 chr11 1860931 1864245 TNNI2 F chr11_1863889_1864112_10000_1 1 chr11 1862734 1862735 CM131698 + 1 DM NULL TNNI2 Distal arthrogryposis syndrome 2b GTGGGTGACTGGAGGAAGAACATCGAGGAG[A/G]AGTCTGGCATGGAGGGCCGGAAGAAGATGT 23401156 chr11 1860931 1864245 TNNI2 F chr11_1863889_1864112_10000_1 1 chr11 1862752 1862753 CM1312926 + 1 DM NULL TNNI2 Distal arthrogryposis syndrome 2b AACATCGAGGAGAAGTCTGGCATGGAGGGC[C/T]GGAAGAAGATGTTTGAGTCCGAGTCCTAGg 24343878 chr11 1860931 1864245 TNNI2 F chr11_1863889_1864112_10000_1 1 chr11 1862753 1862754 CM030720 + 1 DM rs104894311 TNNI2 Distal arthrogryposis syndrome 2b ACATCGAGGAGAAGTCTGGCATGGAGGGCC[G/A]GAAGAAGATGTTTGAGTCCGAGTCCTAGgc 12592607 chr11 1860931 1864245 TNNI2 F chr11_1863889_1864112_10000_1 1 chr11 1862757 1862758 CM131699 + 1 DM NULL TNNI2 Distal arthrogryposis syndrome 2b CGAGGAGAAGTCTGGCATGGAGGGCCGGAA[G/T]AAGATGTTTGAGTCCGAGTCCTAGgccact 23401156 chr11 1860931 1864245 TNNI2 F chr11_1863889_1864112_10000_1 1 chr11 1862759 1862761 CD064657 + 5 DM NULL TNNI2 Distal arthrogryposis syndrome 2b AGGAGAAGTCTGGCATGGAGGGCCGGAAGA[AGA/-]TGTTTGAGTCCGAGTCCTAGGCCACTCGCT 16924011 chr11 1863948 1864140 TNNI2 F chr11_1863889_1864112_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 1974033 1974880 CD81 S chr11_2421577_2421926_11101_3 1 . -1 -1 . -1 . . . . . . . chr11 2420916 2422578 CD81 S chr11_1974228_1974619_10000_2 1 . -1 -1 . -1 . . . . . . . chr11 2951529 2951649 PHLDA2 F chr11_2950172_2950446_11101_1 1 . -1 -1 . -1 . . . . . . . chr11 3833340 3833454 PGAP2 F chr11_3830518_3830721_11110_2 1 . -1 -1 . -1 . . . . . . . chr11 3859822 3860019 RHOG F chr11_3862334_3862444_10100_1 1 . -1 -1 . -1 . . . . . . . chr11 4413870 4414271 TRIM21 F chr11_4414924_4415107_11111_1 1 . -1 -1 . -1 . . . . . . . chr11 10329000 10329886 AMPD3 S chr11_10757278_10757369_10101_1 1 . -1 -1 . -1 . . . . . . . chr11 10757030 10757369 AMPD3 S chr11_10329100_10329767_11111_2 1 . -1 -1 . -1 . . . . . . . chr11 12131637 12132951 MICAL2 F chr11_12132392_12132464_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 12132692 12132808 MICAL2 F chr11_12131965_12132464_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 12133218 12133350 MICAL2 F chr11_12131965_12132464_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 12136145 12136580 MICAL2 F chr11_12131965_12132464_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 12695468 12698434 TEAD1 F chr11_12698002_12698155_10001_1 1 . -1 -1 . -1 . . . . . . . chr11 12697923 12698543 TEAD1 F chr11_12695646_12695756_11100_1:chr11_12698002_12698155_10001_1 2 . -1 -1 . -1 . . . . . . . chr11 12698857 12698926 TEAD1 F chr11_12695646_12695756_11100_1:chr11_12698002_12698155_10001_1 2 . -1 -1 . -1 . . . . . . . chr11 13299973 13300299 ARNTL F chr11_13298981_13299449_11111_1 1 . -1 -1 . -1 . . . . . . . chr11 14913250 14916972 CYP2R1 F chr11_14916387_14916957_11100_2 1 . -1 -1 . -1 . . . . . . . chr11 14916687 14916856 CYP2R1 F chr11_14913250_14913339_11000_1:chr11_14913791_14914073_11101_2:chr11_14916278_14916957_11100_2 3 . -1 -1 . -1 . . . . . . . chr11 17036768 17036996 PLEKHA7 F chr11_17036079_17036258_11100_1 1 . -1 -1 . -1 . . . . . . . chr11 17372476 17372625 B7H6 F chr11_17373171_17373565_10000_2 1 . -1 -1 . -1 . . . . . . . chr11 17372808 17375200 B7H6 F chr11_17374635_17374736_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 17374298 17375700 B7H6 F chr11_17373171_17373565_10000_2:chr11_17374635_17374736_10000_1 2 . -1 -1 . -1 . . . . . . . chr11 18546072 18546398 TSG101 F chr11_18548005_18548185_10100_1:chr11_18548715_18548872_11100_3 2 . -1 -1 . -1 . . . . . . . chr11 19734380 19737222 NAV2 F chr11_19737056_19737250_10000_2 1 . -1 -1 . -1 . . . . . . . chr11 19736892 19737150 NAV2 F chr11_19734380_19734387_10100_1:chr11_19737056_19737222_10000_2 2 . -1 -1 . -1 . . . . . . . chr11 22698546 22699009 GAS2 F chr11_22696084_22696502_11111_4 1 . -1 -1 . -1 . . . . . . . chr11 28128920 28129110 METTL15 F chr11_28129718_28129850_11100_1 1 . -1 -1 . -1 . . . . . . . chr11 44590064 44591217 CD82 F chr11_44586640_44586794_10001_1 1 . -1 -1 . -1 . . . . . . . chr11 46938650 46940673 LRP4 F chr11_46938784_46939011_11101_1 1 . -1 -1 . -1 . . . . . . . chr11 46938695 46939005 LRP4 F chr11_46938784_46939011_11101_1 1 . -1 -1 . -1 . . . . . . . chr11 47573563 47574025 CELF1 F chr11_47574700_47574868_11111_1 1 . -1 -1 . -1 . . . . . . . chr11 47787265 47787534 FNBP4 F chr11_47788819_47789229_11111_3 1 . -1 -1 . -1 . . . . . . . chr11 48004294 48004631 PTPRJ F chr11_48002679_48002836_10100_1 1 . -1 -1 . -1 . . . . . . . chr11 57333629 57335680 UBE2L6 F chr11_57333690_57333945_11111_1 1 . -1 -1 . -1 . . . . . . . chr11 57333685 57333973 UBE2L6 F chr11_57333690_57333945_11111_1 1 . -1 -1 . -1 . . . . . . . chr11 57334679 57337137 UBE2L6 F chr11_57336635_57337079_11000_3 1 . -1 -1 . -1 . . . . . . . chr11 57336823 57337050 UBE2L6 F chr11_57336635_57337079_11000_3 1 . -1 -1 . -1 . . . . . . . chr11 57364526 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365055 57365056 CR961722 + 3 DM NULL SERPING1 Angioneurotic oedema TCCTGATTTACAGGAACTCACACCAGCGAT[C/T]AATCTTCCTTAATTTGTAACTGGGCAGTGT 8755917 chr11 57364526 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365057 57365058 HR080001 + 3 DM NULL SERPING1 Angioneurotic oedema CTGATTTACAGGAACTCACACCAGCGATCA[A/G]TCTTCCTTAATTTGTAACTGGGCAGTGTCC HGOL chr11 57364526 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365118 57365119 CR961721 + 3 DM NULL SERPING1 Angioneurotic oedema CGGGCCAGCCAATAGCTAAGACTGCCCCCC[C/G]CGCACCCCACCCTCCCTGACCCTGGGGGAC 8755917 chr11 57364526 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365720 57365721 CS105963 + 2 DM NULL SERPING1 Angioneurotic oedema ggagctggctccgaggctggctggctccgc[A/G]gGTCCGCTGACGTCGCCGCCCAGATGGCCT 20804470 chr11 57364526 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365721 57365722 CS963044 + 2 DM NULL SERPING1 Angioneurotic oedema gagctggctccgaggctggctggctccgca[G/A]GTCCGCTGACGTCGCCGCCCAGATGGCCTC 8755917 chr11 57364526 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365723 57365724 CS131171 + 2 DM? rs28362944 SERPING1 Angioedema: hereditary gctggctccgaggctggctggctccgcagG[T/C]CCGCTGACGTCGCCGCCCAGATGGCCTCCA 23437219 chr11 57364526 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365744 57365745 CM083125 + 1 DM NULL SERPING1 Angioneurotic oedema ctccgcaggtccgctgacgtcgccgcccag[A/T]TGGCCTCCAGGCTGACCCTGCTGACCCTCC 18586324 chr11 57364526 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365744 57365745 HM080040 + 1 DM NULL SERPING1 Angioneurotic oedema ctccgcaggtccgctgacgtcgccgcccag[A/G]TGGCCTCCAGGCTGACCCTGCTGACCCTCC HGOL chr11 57364526 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365745 57365746 CM083106 + 1 DM NULL SERPING1 Angioneurotic oedema tccgcaggtccgctgacgtcgccgcccagA[T/A]GGCCTCCAGGCTGACCCTGCTGACCCTCCT 18586324 chr11 57364526 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365746 57365747 CM083108 + 1 DM NULL SERPING1 Angioneurotic oedema ccgcaggtccgctgacgtcgccgcccagAT[G/A]GCCTCCAGGCTGACCCTGCTGACCCTCCTG 18586324 chr11 57364526 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365748 57365749 CM087067 + 1 DM rs185342631 SERPING1 Angioneurotic oedema gcaggtccgctgacgtcgccgcccagATGG[C/T]CTCCAGGCTGACCCTGCTGACCCTCCTGCT 18758157 chr11 57364526 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365756 57365757 CI962234 + 6 DM NULL SERPING1 Angioneurotic oedema CTGACGTCGCCGCCCAGATGGCCTCCAGGC[-/CTCCAGGC]TGACCCTGCTGACCCTCCTGCTGCTGCTGC 8755917 chr11 57364526 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365759 57365760 CI004601 + 6 DM NULL SERPING1 Angioneurotic oedema ACGTCGCCGCCCAGATGGCCTCCAGGCTGA[-/GA]CCCTGCTGACCCTCCTGCTGCTGCTGCTGG 10719305 chr11 57364526 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365766 57365767 CI105964 + 6 DM NULL SERPING1 Angioneurotic oedema CGCCCAGATGGCCTCCAGGCTGACCCTGCT[-/T]GACCCTCCTGCTGCTGCTGCTGGCTGGGGT 20804470 chr11 57364526 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365777 57365778 CI084324 + 6 DM NULL SERPING1 Angioneurotic oedema CCTCCAGGCTGACCCTGCTGACCCTCCTGC[-/C]TGCTGCTGCTGGCTGGGGTATGTGGTCCCT 18586324 chr11 57364526 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365783 57365792 CD087109 + 5 DM NULL SERPING1 Angioneurotic oedema AGGCTGACCCTGCTGACCCTCCTGCTGCTG[CTGCTGGCTG/-]GGGTATGTGGTCCCTTGTGGGATGGGGGAC 18758157 chr11 57364526 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365792 57365793 CX131160 + 4 DM NULL SERPING1 Angioedema: hereditary CTGCTGACCCTCCTGCTGCTGCTGCTGGCT[G/TT]GGGTATGTGGTCCCTTGTGGGATGGGGGAC 23437219 chr11 57364526 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365795 57365796 CS033511 + 2 DM NULL SERPING1 Angioneurotic oedema CTGACCCTCCTGCTGCTGCTGCTGGCTGGG[G/A]tatgtggtcccttgtgggatgggggacggg 14635117 chr11 57364526 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365795 57365796 CS122540 + 2 DM NULL SERPING1 Angioneurotic oedema CTGACCCTCCTGCTGCTGCTGCTGGCTGGG[G/T]tatgtggtcccttgtgggatgggggacggg 21934598 chr11 57364526 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365797 57365798 CS053487 + 2 DM NULL SERPING1 Angioneurotic oedema GACCCTCCTGCTGCTGCTGCTGGCTGGGgt[A/G]tgtggtcccttgtgggatgggggacggggg 15971231 chr11 57364526 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365799 57365800 CS963018 + 2 DM NULL SERPING1 Angioneurotic oedema CCCTCCTGCTGCTGCTGCTGGCTGGGgtat[G/A]tggtcccttgtgggatgggggacgggggtg 8755917 chr11 57364526 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365800 57365801 CS117776 + 2 DM NULL SERPING1 Angioedema: hereditary CCTCCTGCTGCTGCTGCTGGCTGGGgtatg[T/G]ggtcccttgtgggatgggggacgggggtgg 21864911 chr11 57365204 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365720 57365721 CS105963 + 2 DM NULL SERPING1 Angioneurotic oedema ggagctggctccgaggctggctggctccgc[A/G]gGTCCGCTGACGTCGCCGCCCAGATGGCCT 20804470 chr11 57365204 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365721 57365722 CS963044 + 2 DM NULL SERPING1 Angioneurotic oedema gagctggctccgaggctggctggctccgca[G/A]GTCCGCTGACGTCGCCGCCCAGATGGCCTC 8755917 chr11 57365204 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365723 57365724 CS131171 + 2 DM? rs28362944 SERPING1 Angioedema: hereditary gctggctccgaggctggctggctccgcagG[T/C]CCGCTGACGTCGCCGCCCAGATGGCCTCCA 23437219 chr11 57365204 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365744 57365745 CM083125 + 1 DM NULL SERPING1 Angioneurotic oedema ctccgcaggtccgctgacgtcgccgcccag[A/T]TGGCCTCCAGGCTGACCCTGCTGACCCTCC 18586324 chr11 57365204 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365744 57365745 HM080040 + 1 DM NULL SERPING1 Angioneurotic oedema ctccgcaggtccgctgacgtcgccgcccag[A/G]TGGCCTCCAGGCTGACCCTGCTGACCCTCC HGOL chr11 57365204 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365745 57365746 CM083106 + 1 DM NULL SERPING1 Angioneurotic oedema tccgcaggtccgctgacgtcgccgcccagA[T/A]GGCCTCCAGGCTGACCCTGCTGACCCTCCT 18586324 chr11 57365204 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365746 57365747 CM083108 + 1 DM NULL SERPING1 Angioneurotic oedema ccgcaggtccgctgacgtcgccgcccagAT[G/A]GCCTCCAGGCTGACCCTGCTGACCCTCCTG 18586324 chr11 57365204 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365748 57365749 CM087067 + 1 DM rs185342631 SERPING1 Angioneurotic oedema gcaggtccgctgacgtcgccgcccagATGG[C/T]CTCCAGGCTGACCCTGCTGACCCTCCTGCT 18758157 chr11 57365204 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365756 57365757 CI962234 + 6 DM NULL SERPING1 Angioneurotic oedema CTGACGTCGCCGCCCAGATGGCCTCCAGGC[-/CTCCAGGC]TGACCCTGCTGACCCTCCTGCTGCTGCTGC 8755917 chr11 57365204 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365759 57365760 CI004601 + 6 DM NULL SERPING1 Angioneurotic oedema ACGTCGCCGCCCAGATGGCCTCCAGGCTGA[-/GA]CCCTGCTGACCCTCCTGCTGCTGCTGCTGG 10719305 chr11 57365204 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365766 57365767 CI105964 + 6 DM NULL SERPING1 Angioneurotic oedema CGCCCAGATGGCCTCCAGGCTGACCCTGCT[-/T]GACCCTCCTGCTGCTGCTGCTGGCTGGGGT 20804470 chr11 57365204 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365777 57365778 CI084324 + 6 DM NULL SERPING1 Angioneurotic oedema CCTCCAGGCTGACCCTGCTGACCCTCCTGC[-/C]TGCTGCTGCTGGCTGGGGTATGTGGTCCCT 18586324 chr11 57365204 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365783 57365792 CD087109 + 5 DM NULL SERPING1 Angioneurotic oedema AGGCTGACCCTGCTGACCCTCCTGCTGCTG[CTGCTGGCTG/-]GGGTATGTGGTCCCTTGTGGGATGGGGGAC 18758157 chr11 57365204 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365792 57365793 CX131160 + 4 DM NULL SERPING1 Angioedema: hereditary CTGCTGACCCTCCTGCTGCTGCTGCTGGCT[G/TT]GGGTATGTGGTCCCTTGTGGGATGGGGGAC 23437219 chr11 57365204 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365795 57365796 CS033511 + 2 DM NULL SERPING1 Angioneurotic oedema CTGACCCTCCTGCTGCTGCTGCTGGCTGGG[G/A]tatgtggtcccttgtgggatgggggacggg 14635117 chr11 57365204 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365795 57365796 CS122540 + 2 DM NULL SERPING1 Angioneurotic oedema CTGACCCTCCTGCTGCTGCTGCTGGCTGGG[G/T]tatgtggtcccttgtgggatgggggacggg 21934598 chr11 57365204 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365797 57365798 CS053487 + 2 DM NULL SERPING1 Angioneurotic oedema GACCCTCCTGCTGCTGCTGCTGGCTGGGgt[A/G]tgtggtcccttgtgggatgggggacggggg 15971231 chr11 57365204 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365799 57365800 CS963018 + 2 DM NULL SERPING1 Angioneurotic oedema CCCTCCTGCTGCTGCTGCTGGCTGGGgtat[G/A]tggtcccttgtgggatgggggacgggggtg 8755917 chr11 57365204 57366719 SERPING1 F chr11_57366935_57366985_10000_2 1 chr11 57365800 57365801 CS117776 + 2 DM NULL SERPING1 Angioedema: hereditary CCTCCTGCTGCTGCTGCTGGCTGGGgtatg[T/G]ggtcccttgtgggatgggggacgggggtgg 21864911 chr11 57366352 57366685 SERPING1 F chr11_57364864_57365172_11111_4:chr11_57365436_57365853_11000_1:chr11_57365436_57365853_11000_1 3 . -1 -1 . -1 . . . . . . . chr11 60930012 60930347 VPS37C F chr11_60928415_60928484_10000_1:chr11_60929172_60929352_10000_2 2 . -1 -1 . -1 . . . . . . . chr11 60931528 60932206 VPS37C F chr11_60928415_60928484_10000_1:chr11_60929172_60929352_10000_2 2 . -1 -1 . -1 . . . . . . . chr11 60932642 60932735 VPS37C F chr11_60928415_60928484_10000_1:chr11_60929172_60929352_10000_2 2 . -1 -1 . -1 . . . . . . . chr11 61519620 61524229 C11orf9 F chr11_61524293_61524412_11111_1 1 . -1 -1 . -1 . . . . . . . chr11 62625165 62625549 SLC3A2 F chr11_62623404_62623514_11101_1:chr11_62624048_62624277_10000_1 2 . -1 -1 . -1 . . . . . . . chr11 63269910 63269971 LGALS12 F chr11_63270736_63270847_10000_1:chr11_63272439_63272729_10000_3 2 . -1 -1 . -1 . . . . . . . chr11 63302695 63302884 RARRES3 F chr11_63304248_63304658_11000_1 1 . -1 -1 . -1 . . . . . . . chr11 63377789 63377920 PLA2G16 F chr11_63381064_63381233_10010_1:chr11_63381064_63381233_10010_1:chr11_63381706_63382167_10110_1:chr11_63381706_63382167_10110_1 4 . -1 -1 . -1 . . . . . . . chr11 63605376 63605474 MARK2 F chr11_63606040_63606163_11110_1 1 . -1 -1 . -1 . . . . . . . chr11 64456083 64456501 ATG2A S chr11_64661836_64661983_11111_1 1 . -1 -1 . -1 . . . . . . . chr11 64544943 64545500 SF1 S chr11_65297000_65297246_10000_2 1 . -1 -1 . -1 . . . . . . . chr11 64661613 64661983 ATG2A S chr11_64456083_64456248_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 65188457 65192525 NEAT1 S chr11_65297000_65297246_10000_2 1 . -1 -1 . -1 . . . . . . . chr11 65264646 65266747 MALAT1 S chr11_65297000_65297246_10000_2 1 . -1 -1 . -1 . . . . . . . chr11 65297000 65297370 MALAT1 S chr11_65264849_65265341_11111_2:chr11_65265976_65266668_11111_2 2 . -1 -1 . -1 . . . . . . . chr11 65297000 65297370 NEAT1 S chr11_65188529_65189282_11111_2:chr11_65189637_65189869_11111_1:chr11_65190111_65190284_11111_3 3 . -1 -1 . -1 . . . . . . . chr11 65379476 65379605 MAP3K11 F chr11_65381582_65381913_11111_1 1 . -1 -1 . -1 . . . . . . . chr11 65512221 65512800 ATG2A S chr11_64661836_64661983_11111_1 1 . -1 -1 . -1 . . . . . . . chr11 66104200 66104296 CD248 S chr11_66079697_66080234_10010_2 1 . -1 -1 . -1 . . . . . . . chr11 66104200 66104296 FIBP S chr11_65655955_65656065_11010_1 1 . -1 -1 . -1 . . . . . . . chr11 66104200 66104296 KAT5 S chr11_65479369_65479495_11110_1 1 . -1 -1 . -1 . . . . . . . chr11 67037275 67037527 ADRBK1 F chr11_67035042_67035540_11110_3 1 . -1 -1 . -1 . . . . . . . chr11 67120551 67122389 POLD4 F chr11_67122036_67122313_10011_2 1 . -1 -1 . -1 . . . . . . . chr11 67121988 67122388 POLD4 F chr11_67120988_67121344_10111_1:chr11_67122036_67122313_10011_2 2 . -1 -1 . -1 . . . . . . . chr11 67142500 67143040 CLCF1 F chr11_67141537_67142043_10111_2 1 . -1 -1 . -1 . . . . . . . chr11 67143202 67143472 CLCF1 F chr11_67141537_67142043_10111_2 1 . -1 -1 . -1 . . . . . . . chr11 67866800 67867600 SUV420H1 S chr11_67981113_67981462_11100_1 1 . -1 -1 . -1 . . . . . . . chr11 67979988 67981719 SUV420H1 S chr11_67867001_67867361_11111_3:chr11_68147936_68148133_11000_2 2 . -1 -1 . -1 . . . . . . . chr11 68147310 68148400 SUV420H1 S chr11_67981113_67981462_11100_1 1 . -1 -1 . -1 . . . . . . . chr11 68778461 68781350 MRGPRF F chr11_68778552_68778714_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 68778534 68778789 MRGPRF F chr11_68778552_68778714_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 68815849 68819423 TPCN2 F chr11_68819129_68819374_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 68819125 68819319 TPCN2 F chr11_68819129_68819374_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 69452524 69453230 CCND1 F chr11_69453782_69453957_11111_2:chr11_69454655_69454814_10000_1:chr11_69455848_69455967_11101_2 3 . -1 -1 . -1 . . . . . . . chr11 69923907 69927298 ANO1 F chr11_69926986_69927188_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 69927034 69927161 ANO1 F chr11_69926986_69927188_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 70244111 70245906 CTTN F chr11_70245536_70245690_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 70245269 70246141 CTTN F chr11_70245536_70245690_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 70951776 70953059 NADSYN1 S chr11_71159304_71159508_11100_1 1 . -1 -1 . -1 . . . . . . . chr11 71158852 71160243 NADSYN1 S chr11_70952415_70952710_11010_3 1 . -1 -1 . -1 . . . . . . . chr11 72141917 72142158 ENSG00000202522 S chr11_72477510_72477718_11000_2 1 . -1 -1 . -1 . . . . . . . chr11 72429149 72429366 ARAP1 F chr11_72430355_72430529_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 72430122 72433903 ARAP1 F chr11_72430355_72430529_10000_1 1 chr11 72432985 72432986 CR140936 - 3 DFP rs11603334 ARAP1 Diabetes: type 2: increased risk AGACCAGCCCAGGCGGGACCCAGGCTTGCA[T/C]GGGCAGGTACACGACATTCTTGGGCATACG 24439111 chr11 72430122 72433903 ARAP1 F chr11_72430355_72430529_10000_1 1 chr11 72433098 72433099 CR140942 - 3 DP rs1552224 ARAP1 Diabetes: type 2: increased risk TCACAAACACTTAAAGACATAAATCACAGG[G/T]GCAAAGCCATACCTGGGCTCAAAAACCTCC 24439111 chr11 72430170 72430475 ARAP1 F chr11_72430355_72430529_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 72477143 72478007 ENSG00000202522 S chr11_72142146_72142158_11100_1 1 . -1 -1 . -1 . . . . . . . chr11 72852642 72854756 FCHSD2 F chr11_72854761_72854901_10100_1 1 . -1 -1 . -1 . . . . . . . chr11 72854261 72854849 FCHSD2 F chr11_72853725_72853845_10100_1 1 . -1 -1 . -1 . . . . . . . chr11 73045664 73046030 ARAP1 S chr11_72504686_72505298_11111_3 1 . -1 -1 . -1 . . . . . . . chr11 73045664 73046030 ARHGEF17 S chr11_73018381_73018507_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 73045664 73046030 ATG16L2 S chr11_72524281_72524454_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 73045664 73046030 C2CD3 S chr11_73881998_73882444_11101_3 1 . -1 -1 . -1 . . . . . . . chr11 73045664 73046030 CLPB S chr11_72145599_72145765_11110_3 1 . -1 -1 . -1 . . . . . . . chr11 73045664 73046030 ENSG00000202522 S chr11_72477510_72477718_11000_2 1 . -1 -1 . -1 . . . . . . . chr11 73045664 73046030 RAB6A S chr11_73471285_73471448_10000_1:chr11_73472213_73472504_11111_2 2 . -1 -1 . -1 . . . . . . . chr11 75060807 75063375 ARRB1 F chr11_75060968_75061080_11000_1 1 . -1 -1 . -1 . . . . . . . chr11 75060875 75061139 ARRB1 F chr11_75060968_75061080_11000_1 1 . -1 -1 . -1 . . . . . . . chr11 75479277 75483090 DGAT2 F chr11_75482813_75482979_11111_1 1 . -1 -1 . -1 . . . . . . . chr11 75482683 75483095 DGAT2 F chr11_75479759_75479872_10000_1:chr11_75482813_75482979_11111_1 2 . -1 -1 . -1 . . . . . . . chr11 75917073 75920270 WNT11 F chr11_75919862_75920056_11100_1:chr11_75920534_75920546_10110_1 2 . -1 -1 . -1 . . . . . . . chr11 75919893 75920246 WNT11 F chr11_75919862_75920056_11100_1 1 . -1 -1 . -1 . . . . . . . chr11 78128367 78130743 GAB2 F chr11_78130367_78130723_10000_2 1 . -1 -1 . -1 . . . . . . . chr11 78130392 78130692 GAB2 F chr11_78129065_78129598_11100_1:chr11_78130367_78130723_10000_2 2 . -1 -1 . -1 . . . . . . . chr11 78131805 78132171 GAB2 F chr11_78129065_78129598_11100_1:chr11_78130367_78130723_10000_2 2 . -1 -1 . -1 . . . . . . . chr11 83392967 83397139 DLG2 F chr11_83396881_83396995_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 83396793 83397083 DLG2 F chr11_83396881_83396995_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 85520282 85520495 SYTL2 F chr11_85522125_85522234_10101_1 1 . -1 -1 . -1 . . . . . . . chr11 85521123 85521272 SYTL2 F chr11_85522125_85522234_10101_1 1 . -1 -1 . -1 . . . . . . . chr11 87906798 87907204 RAB38 F chr11_87908290_87908440_10111_1 1 . -1 -1 . -1 . . . . . . . chr11 88069705 88069944 CTSC F chr11_88070843_88070984_11101_1 1 . -1 -1 . -1 . . . . . . . chr11 93861593 93864212 PANX1 F chr11_93863944_93864107_10000_2 1 . -1 -1 . -1 . . . . . . . chr11 93863761 93864262 PANX1 F chr11_93863944_93864107_10000_2 1 . -1 -1 . -1 . . . . . . . chr11 96071900 96072294 MAML2 F chr11_96075755_96075926_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 96072423 96072630 MAML2 F chr11_96075755_96075926_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 102189237 102189699 BIRC3 F chr11_102187843_102188234_11101_2:chr11_102188673_102188778_11000_1 2 . -1 -1 . -1 . . . . . . . chr11 102189714 102190108 BIRC3 F chr11_102187843_102188234_11101_2:chr11_102188673_102188778_11000_1 2 . -1 -1 . -1 . . . . . . . chr11 102216514 102216961 BIRC2 F chr11_102217436_102217537_11110_1:chr11_102217772_102217959_11101_1:chr11_102218304_102218466_11101_1 3 . -1 -1 . -1 . . . . . . . chr11 104838372 104838510 CASP4 F chr11_104839305_104839459_10000_2 1 . -1 -1 . -1 . . . . . . . chr11 109961258 109961641 ZC3H12C F chr11_109963852_109964074_11000_1 1 . -1 -1 . -1 . . . . . . . chr11 109965770 109966113 ZC3H12C F chr11_109963852_109964074_11000_1:chr11_109964932_109965124_11111_1 2 . -1 -1 . -1 . . . . . . . chr11 110581634 110583951 ARHGAP20 F chr11_110581728_110582011_10000_2 1 . -1 -1 . -1 . . . . . . . chr11 110581726 110581943 ARHGAP20 F chr11_110581728_110582011_10000_2:chr11_110583617_110583815_11100_1 2 . -1 -1 . -1 . . . . . . . chr11 111229685 111231581 ENSG00000086848 S chr11_111749433_111749885_11111_2 1 . -1 -1 . -1 . . . . . . . chr11 111229685 111231581 SIK2 S chr11_111472878_111473055_11101_1 1 . -1 -1 . -1 . . . . . . . chr11 111472723 111473781 SIK2 S chr11_111230469_111231414_11110_4 1 . -1 -1 . -1 . . . . . . . chr11 111749433 111750375 ENSG00000086848 S chr11_111230469_111231414_11110_4 1 . -1 -1 . -1 . . . . . . . chr11 112031761 112035340 IL18 F chr11_112031856_112032065_11000_1 1 chr11 112034988 112034989 CR056783 - 3 DFP rs187238 IL18 Colonic disease in CARD15 mutation positive individuals: association GCACAGAGCCCCAACTTTTACGGAAGAAAA[C/G]ATTTCATGAAAATAGTGATATTACATTAAA 16306764 chr11 112031842 112032080 IL18 F chr11_112031856_112032065_11000_1:chr11_112033892_112034067_11000_2 2 . -1 -1 . -1 . . . . . . . chr11 115372753 115373113 CADM1 F chr11_115373417_115373612_11101_1:chr11_115373883_115374042_11100_1 2 . -1 -1 . -1 . . . . . . . chr11 116643202 116644202 BUD13 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 . -1 -1 . -1 . . . . . . . chr11 116661967 116663604 ZNF259 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116662299 116662300 CS067806 - 2 DM NULL APOA5 Hypertriglyceridaemia ATCAGCAGAAGATGGCTCGCGAGCCCGCgt[G/C]agtgcccaggggaaggggtgtaggcgaagg 16687148 chr11 116661967 116663604 ZNF259 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116662309 116662310 CM119840 - 1 DM? NULL APOA5 Hypertriglyceridaemia GAGCAGATCCATCAGCAGAAGATGGCTCGC[G/A]AGCCCGCgtgagtgcccaggggaaggggtg 21993410 chr11 116661967 116663604 ZNF259 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116662407 116662408 CM023881 - 1 DFP rs3135506 APOA5 Increased plasma triglyceride levels: association tgattacctagtccctctccacagCGTTTT[C/G]GGCCACCCAGGCACGGAAAGGCTTCTGGGA 12417525 chr11 116661967 116663604 ZNF259 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116662523 116662524 CS108781 - 2 DM NULL APOA5 Proteinuria and dyslipidaemia CACCTGGGCTCTGGCTCTTCTTTCAGgtgg[G/C]tctccgaccctgacttcaacgtgggggtgt 21122665 chr11 116661967 116663604 ZNF259 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116662527 116662528 CS097562 - 2 DM NULL APOA5 Chylomicronemia TGCTCACCTGGGCTCTGGCTCTTCTTTCAG[G/A]tgggtctccgaccctgacttcaacgtgggg 19410254 chr11 116661967 116663604 ZNF259 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116662579 116662580 CR080753 - 3 FP rs651821 APOA5 Increased plasma triglyceride levels GGCCTCCCTCCACCTGTCTTCTCAGAGCAG[A/G]TAATGGCAAGCATGGCTGCCGTGCTCACCT 17766366 chr11 116678444 116680468 APOA1 S chr11_116708184_116708604_11110_3 1 . -1 -1 . -1 . . . . . . . chr11 116678444 116680468 APOC3 S chr11_116699703_116700007_11110_1:chr11_116700316_116700830_11110_2 2 . -1 -1 . -1 . . . . . . . chr11 116678444 116680468 BUD13 S chr11_116643717_116643849_11101_2 1 . -1 -1 . -1 . . . . . . . chr11 116678444 116680468 SIK3 S chr11_116967166_116967484_10010_2 1 . -1 -1 . -1 . . . . . . . chr11 116678444 116680468 ZNF259 S chr11_116662096_116662206_10000_1:chr11_116663045_116663575_11111_3 2 . -1 -1 . -1 . . . . . . . chr11 116693510 116697946 APOA4 F chr11_116697509_116697866_11000_4 1 . -1 -1 . -1 . . . . . . . chr11 116696088 116696400 APOC3 S chr11_116699703_116700007_11110_1:chr11_116700316_116700830_11110_2 2 . -1 -1 . -1 . . . . . . . chr11 116696088 116696400 ZNF259 S chr11_116662096_116662206_10000_1:chr11_116663045_116663575_11111_3 2 . -1 -1 . -1 . . . . . . . chr11 116697545 116701124 APOC3 F chr11_116697509_116697866_11000_4 1 chr11 116699984 116699985 CR061330 + 3 FP rs2542052 APOC3 Lower serum APOC3 level GCCCTTCTCCACCAACCCCTGCCCTACACT[A/C]AGGGGGAGGCAGCGGGGGGCACACAGGGTG 16602826 chr11 116697545 116701124 APOC3 F chr11_116697509_116697866_11000_4 1 chr11 116700142 116700143 CR033993 + 3 DP rs2854117 APOC3 Insulin/NEFA levels: association with TAACCAGGCCTTGCCGGAGCCACTGATGCC[T/C]GGTCTTCTGTGCCTTTACTCCAAACACCCC 12697301 chr11 116697545 116701124 APOC3 F chr11_116697509_116697866_11000_4 1 chr11 116700169 116700170 CR033992 + 3 DP rs2854116 APOC3 Insulin/NEFA levels: association with GCCTGGTCTTCTGTGCCTTTACTCCAAACA[C/T]CCCCCAGCCCAAGCCACCCACTTGTTCTCA 12697301 chr11 116697562 116697929 APOA4 F chr11_116696910_116697225_11110_1:chr11_116697509_116697866_11000_4 2 . -1 -1 . -1 . . . . . . . chr11 116697562 116697929 APOC3 F chr11_116697545_116697866_11000_4:chr11_116699703_116700007_11110_1:chr11_116700316_116700830_11110_2 3 . -1 -1 . -1 . . . . . . . chr11 116699603 116700859 APOC3 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116699984 116699985 CR061330 + 3 FP rs2542052 APOC3 Lower serum APOC3 level GCCCTTCTCCACCAACCCCTGCCCTACACT[A/C]AGGGGGAGGCAGCGGGGGGCACACAGGGTG 16602826 chr11 116699603 116700859 APOC3 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116700142 116700143 CR033993 + 3 DP rs2854117 APOC3 Insulin/NEFA levels: association with TAACCAGGCCTTGCCGGAGCCACTGATGCC[T/C]GGTCTTCTGTGCCTTTACTCCAAACACCCC 12697301 chr11 116699603 116700859 APOC3 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116700169 116700170 CR033992 + 3 DP rs2854116 APOC3 Insulin/NEFA levels: association with GCCTGGTCTTCTGTGCCTTTACTCCAAACA[C/T]CCCCCAGCCCAAGCCACCCACTTGTTCTCA 12697301 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706650 116706651 CD910476 - 5 DM NULL APOA1 Apolipoprotein A1 deficiency CCACGCCAAGGCCACCGAGCATCTGAGCAC[G/-]CTCAGCGAGAAGGCCAAGCCCGCGCTCGAG 1898657 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706664 116706665 CM117827 - 1 DM rs121912717 APOA1 Reduced plasma HDL cholesterol AGACTGGCCGAGTACCACGCCAAGGCCACC[G/A]AGCATCTGAGCACGCTCAGCGAGAAGGCCA 21875686 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706704 116706705 CD023237 - 5 DM NULL APOA1 Apolipoprotein A1 deficiency GGCCGCGCGCCTTGAGGCTCTCAAGGAGAA[C/-]GGCGGCGCCAGACTGGCCGAGTACCACGCC 11996960 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706710 116706712 CD072343 - 5 DM NULL APOA1 HDL deficiency CAGCGCTTGGCCGCGCGCCTTGAGGCTCTC[AAG/-]GAGAACGGCGGCGCCAGACTGGCCGAGTAC 17303779 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706723 116706724 CM004884 - 1 DM NULL APOA1 Amyloidosis ACGAGCTGCGCCAGCGCTTGGCCGCGCGCC[T/A]TGAGGCTCTCAAGGAGAACGGCGGCGCCAG 10854214 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706723 116706724 CM042669 - 1 DM NULL APOA1 Hypoalphalipoproteinaemia ACGAGCTGCGCCAGCGCTTGGCCGCGCGCC[T/C]TGAGGCTCTCAAGGAGAACGGCGGCGCCAG 15464323 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706733 116706734 CM021486 - 1 DM rs121912730 APOA1 Amyloidosis CCCTACAGCGACGAGCTGCGCCAGCGCTTG[G/C]CCGCGCGCCTTGAGGCTCTCAAGGAGAACG 12050338 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706735 116706736 CM993804 - 1 DM rs121912729 APOA1 Amyloidosis: cardiac and systemic CCCCCTACAGCGACGAGCTGCGCCAGCGCT[T/C]GGCCGCGCGCCTTGAGGCTCTCAAGGAGAA 10487826 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706738 116706739 CM990166 - 1 DM rs121912728 APOA1 Amyloidosis: cardiac and cutaneous TGGCCCCCTACAGCGACGAGCTGCGCCAGC[G/C]CTTGGCCGCGCGCCTTGAGGCTCTCAAGGA 10198255 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706739 116706740 CM093569 - 1 DM rs28931573 APOA1 Apolipoprotein A1 deficiency CTGGCCCCCTACAGCGACGAGCTGCGCCAG[C/T]GCTTGGCCGCGCGCCTTGAGGCTCTCAAGG 19318685 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706747 116706748 CM091757 - 1 DM NULL APOA1 Amyloidosis GCACGCATCTGGCCCCCTACAGCGACGAGC[T/C]GCGCCAGCGCTTGGCCGCGCGCCTTGAGGC 19324996 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706762 116706763 CM890301 - 1 DM rs121912722 APOA1 Hypoalphalipoproteinaemia ATGTGGACGCGCTGCGCACGCATCTGGCCC[C/G]CTACAGCGACGAGCTGCGCCAGCGCTTGGC 2512329 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706766 116706767 CM118311 - 1 DP rs140770089 APOA1 Ischaemic heart disease: increased risk: association with GCCCATGTGGACGCGCTGCGCACGCATCTG[G/T]CCCCCTACAGCGACGAGCTGCGCCAGCGCT 21443680 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706777 116706778 CM109189 - 1 DM NULL APOA1 Reduced plasma HDL cholesterol ACCGCGCGCGCGCCCATGTGGACGCGCTGC[G/T]CACGCATCTGGCCCCCTACAGCGACGAGCT 20800056 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706780 116706781 CM973706 - 1 DM NULL APOA1 Hypoalphalipoproteinaemia GCGACCGCGCGCGCGCCCATGTGGACGCGC[T/G]GCGCACGCATCTGGCCCCCTACAGCGACGA 9012641 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706780 116706781 CM980090 - 1 DM NULL APOA1 HDL deficiency GCGACCGCGCGCGCGCCCATGTGGACGCGC[T/C]GCGCACGCATCTGGCCCCCTACAGCGACGA 9714130 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706786 116706787 CI131402 - 6 DM NULL APOA1 HDL deficiency AGATGCGCGACCGCGCGCGCGCCCATGTGG[-/GCGCGCGCGCCCATGTGG]ACGCGCTGCGCACGCATCTGGCCCCCTACA 23415437 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706789 116706790 CM984231 - 1 DM rs121912727 APOA1 Apolipoprotein A1 deficiency AGGAGATGCGCGACCGCGCGCGCGCCCATG[T/A]GGACGCGCTGCGCACGCATCTGGCCCCCTA 9514407 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706793 116706794 CD118637 - 5 DM NULL APOA1 Amyloidosis GGCGAGGAGATGCGCGACCGCGCGCGCGCC[C/-]ATGTGGACGCGCTGCGCACGCATCTGGCCC 21820994 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706794 116706795 CI091758 - 6 DM NULL APOA1 Amyloidosis GGGCGAGGAGATGCGCGACCGCGCGCGCGC[-/GC]CCATGTGGACGCGCTGCGCACGCATCTGGC 19324996 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706795 116706796 CD044264 - 5 DM NULL APOA1 HDL deficiency CTGGGCGAGGAGATGCGCGACCGCGCGCGC[GC/-]CCATGTGGACGCGCTGCGCACGCATCTGGC 14709355 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706825 116706826 CM973230 - 1 DM NULL APOA1 Hypoalphalipoproteinaemia TGCACGAGCTGCAAGAGAAGCTGAGCCCAC[T/G]GGGCGAGGAGATGCGCGACCGCGCGCGCGC NO ID chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706828 116706829 CM840033 - 1 FP rs121912719 APOA1 Impaired lecithin:cholesterol acyltransferase activation AGCTGCACGAGCTGCAAGAGAAGCTGAGCC[C/G]ACTGGGCGAGGAGATGCGCGACCGCGCGCG 6489332 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706834 116706835 CM960069 - 1 DM NULL APOA1 Apolipoprotein A1 deficiency GCCAGAAGCTGCACGAGCTGCAAGAGAAGC[T/G]GAGCCCACTGGGCGAGGAGATGCGCGACCG 8840853 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706842 116706843 CD097561 - 5 DM NULL APOA1 HDL deficiency AGGGCGCGCGCCAGAAGCTGCACGAGCTGC[AA/-]GAGAAGCTGAGCCCACTGGGCGAGGAGATG 19473658 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706850 116706851 CM064977 - 1 DM NULL APOA1 HDL deficiency CTCCAAGAGGGCGCGCGCCAGAAGCTGCAC[G/T]AGCTGCAAGAGAAGCTGAGCCCACTGGGCG 16023124 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706896 116706897 CM850002 - 1 DM NULL APOA1 Apolipoprotein A1 deficiency GGAGATGGAGCTCTACCGCCAGAAGGTGGA[G/T]CCGCTGCGCGCAGAGCTCCAAGAGGGCGCG 2995392 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706935 116706937 CD951577 - 5 DM NULL APOA1 Apolipoprotein A1 deficiency GTGCAGCCCTACCTGGACGACTTCCAGAAG[AAG/-]TGGCAGGAGGAGATGGAGCTCTACCGCCAG 7670941 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116706987 116706988 CM990165 - 1 DM rs28931575 APOA1 Amyloidosis: cardiac and cutaneous AGGGCCTGAGGCAGGAGATGAGCAAGGATC[T/C]GGAGGAGGTGAAGGCCAAGGTGCAGCCCTA 9916936 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707006 116707007 CM910033 - 1 DM rs121912723 APOA1 Apolipoprotein A1 deficiency AACCTGGAAAAGGAGACAGAGGGCCTGAGG[C/T]AGGAGATGAGCAAGGATCTGGAGGAGGTGA 1901417 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707032 116707033 CM040982 - 1 DM rs372520221 APOA1 Amyloidosis GCCCTGTGACCCAGGAGTTCTGGGATAACC[T/C]GGAAAAGGAGACAGAGGGCCTGAGGCAGGA 14986480 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707034 116707035 CI091759 - 6 DM NULL APOA1 Amyloidosis CGGCCCTGTGACCCAGGAGTTCTGGGATAA[-/A]CCTGGAAAAGGAGACAGAGGGCCTGAGGCA 19324996 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707038 116707046 CD984226 - 5 DM NULL APOA1 Amyloidosis GCGCGAACAGCTCGGCCCTGTGACCCAGGA[GTTCTGGGA/-]TAACCTGGAAAAGGAGACAGAGGGCCTGAG 9461086 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707044 116707045 CM118604 - 1 DM rs138407155 APOA1 Amyloidosis GCGAACAGCTCGGCCCTGTGACCCAGGAGT[T/A]CTGGGATAACCTGGAAAAGGAGACAGAGGG 21820994 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707065 116707066 CM045039 - 1 DM NULL APOA1 Amyloidosis CCTCCACCTTCAGCAAGCTGCGCGAACAGC[T/C]CGGCCCTGTGACCCAGGAGTTCTGGGATAA 15558533 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707077 116707078 CM920057 - 1 DM rs121912724 APOA1 Amyloidosis GGGACAGCGTGACCTCCACCTTCAGCAAGC[T/G]GCGCGAACAGCTCGGCCCTGTGACCCAGGA 1502149 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707108 116707109 CM950074 - 1 DM rs121912726 APOA1 Amyloidosis tcaccctccagCCTAAAGCTCCTTGACAAC[T/C]GGGACAGCGTGACCTCCACCTTCAGCAAGC 7493166 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707727 116707730 CD991585 - 5 DM NULL APOA1 Hypoalphalipoproteinaemia TATGTGTCCCAGTTTGAAGGCTCCGCCTTG[GGAA/-]AACAGCTAAAGTAAGGACCCAGCCTGGGGT 9931341 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707739 116707740 CM107344 - 1 DM rs199759119 APOA1 Hypoalphalipoproteinaemia GGCAGAGACTATGTGTCCCAGTTTGAAGGC[T/G]CCGCCTTGGGAAAACAGCTAAAgtaaggac 20884842 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707745 116707746 CM118605 - 1 DM NULL APOA1 Amyloidosis GACAGCGGCAGAGACTATGTGTCCCAGTTT[G/A]AAGGCTCCGCCTTGGGAAAACAGCTAAAgt 21820994 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707746 116707747 CI072539 - 6 DM NULL APOA1 HDL deficiency AGACAGCGGCAGAGACTATGTGTCCCAGTT[-/C]TGAAGGCTCCGCCTTGGGAAAACAGCTAAA 17303779 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707751 116707752 CM940075 - 1 DM rs121912725 APOA1 HDL deficiency with periorbital xanthelasmas CTCAAAGACAGCGGCAGAGACTATGTGTCC[C/T]AGTTTGAAGGCTCCGCCTTGGGAAAACAGC 7981179 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707765 116707766 CM042003 - 1 DM? NULL APOA1 Reduced plasma HDL cholesterol TGTACGTGGATGTGCTCAAAGACAGCGGCA[G/C]AGACTATGTGTCCCAGTTTGAAGGCTCCGC 15297675 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707769 116707770 CM900016 - 1 DM rs28931574 APOA1 Amyloidotic polyneuropathy ACTGTGTACGTGGATGTGCTCAAAGACAGC[G/C]GCAGAGACTATGTGTCCCAGTTTGAAGGCT 2123470 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707786 116707787 CD994363 - 5 DM NULL APOA1 Hypoalphalipoproteinaemia GAGTGAAGGACCTGGCCACTGTGTACGTGG[A/-]TGTGCTCAAAGACAGCGGCAGAGACTATGT NO ID chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707816 116707817 CM900015 - 1 DM rs28929476 APOA1 Apolipoprotein A1 deficiency AAGATGAACCCCCCCAGAGCCCCTGGGATC[G/T]AGTGAAGGACCTGGCCACTGTGTACGTGGA 2108924 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707817 116707818 CM108780 - 1 DM NULL APOA1 Apolipoprotein A1 deficiency CAAGATGAACCCCCCCAGAGCCCCTGGGAT[C/T]GAGTGAAGGACCTGGCCACTGTGTACGTGG 21122686 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707822 116707823 CM950073 - 1 DM NULL APOA1 Apolipoprotein A1 deficiency GGCAGCAAGATGAACCCCCCCAGAGCCCCT[G/A]GGATCGAGTGAAGGACCTGGCCACTGTGTA 7583566 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707831 116707832 CI931065 - 6 DM NULL APOA1 Apolipoprotein A1 deficiency GGCATTTCTGGCAGCAAGATGAACCCCCCC[-/C]AGAGCCCCTGGGATCGAGTGAAGGACCTGG 8240372 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707832 116707833 CD961783 - 5 DM NULL APOA1 Apolipoprotein A1 deficiency CGGCATTTCTGGCAGCAAGATGAACCCCCC[C/-]AGAGCCCCTGGGATCGAGTGAAGGACCTGG 8840853 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707837 116707838 CM890300 - 1 DM rs121912720 APOA1 Increased proapo A-1 concentration AGGCTCGGCATTTCTGGCAGCAAGATGAAC[C/G]CCCCCAGAGCCCCTGGGATCGAGTGAAGGA 2512329 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707850 116707851 CM940074 - 1 DM NULL APOA1 Apolipoprotein A1 deficiency ccctcagGGAGCCAGGCTCGGCATTTCTGG[C/T]AGCAAGATGAACCCCCCCAGAGCCCCTGGG 8282791 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707858 116707859 CD043894 - 5 DM NULL APOA1 Apolipoprotein A1 deficiency CCCTCCCACCCTCAGGGAGCCAGGCTCGGC[A/-]TTTCTGGCAGCAAGATGAACCCCCCCAGAG 15256764 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116707867 116707868 CI082223 - 6 DM NULL APOA1 Hyperlipidaemia CTGGGTCTCCCCTCCCACCCTCAGGGAGCC[-/C]AGGCTCGGCATTTCTGGCAGCAAGATGAAC 17950741 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116708060 116708061 CS991294 - 2 DM NULL APOA1 Hypoalphalipoproteinaemia TGCTGACCTTGGCCGTGCTCTTCCTGACGG[G/C]taggtgtcccctaacctagggagccaacca 9931341 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116708254 116708255 CR961720 - 3 DP rs5069 APOA1 Elevated HDL-cholesterol: association with CCAGCTCAAGGTTCAGGCCTTGCCCCAGGC[C/T]GGGCCTCTGGGTACCTGAGGTCTTCTCCCG 8647374 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116708299 116708300 HR971651 - 3 DM NULL APOA1 Atherosclerosis with coronary artery disease GAGAAGGAGGTGCGTCCTGCTGCCTGCCCC[G/A]GTCACTCTGGCTCCCCAGCTCAAGGTTCAG HGOL chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116708365 116708366 CR991531 - 3 DM NULL APOA1 Apolipoprotein A1 deficiency CTCCCAGCCCAGACCCTGGCTGCAGACATA[A/C]ATAGGCCCTGCAAGAGCTGGCTGCTTAGAG 9974418 chr11 116706649 116709199 APOA1 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 chr11 116708413 116708414 CR900263 - 3 DFP rs670 APOA1 Elevated serum APOA1: association with TTGCCAGGACCAGTGAGCAGCAACAGGGCC[G/A]GGGCTGGGCTTATCAGCCTCCCAGCCCAGA 1977072 chr11 116967166 116967489 SIK3 S chr11_116678746_116679910_11111_4:chr11_116680216_116680330_10111_1 2 . -1 -1 . -1 . . . . . . . chr11 117014499 117016157 PAFAH1B2 F chr11_117015877_117016043_11001_1 1 . -1 -1 . -1 . . . . . . . chr11 117015877 117016035 PAFAH1B2 F chr11_117015877_117016043_11001_1 1 . -1 -1 . -1 . . . . . . . chr11 117050933 117051273 SIDT2 F chr11_117049438_117049563_10010_1 1 . -1 -1 . -1 . . . . . . . chr11 117693971 117694128 FXYD2 F chr11_117695658_117695806_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 118753974 118755752 CXCR5 F chr11_118755177_118755297_10000_1:chr11_118755711_118755874_10000_1 2 . -1 -1 . -1 . . . . . . . chr11 118755477 118755626 CXCR5 F chr11_118755170_118755297_10000_1:chr11_118755711_118755752_10000_1 2 . -1 -1 . -1 . . . . . . . chr11 118782911 118783378 BCL9L F chr11_118782074_118782258_11111_1 1 . -1 -1 . -1 . . . . . . . chr11 118796539 118796844 UPK2 S chr11_118082857_118083396_10010_3 1 . -1 -1 . -1 . . . . . . . chr11 120081246 120083508 OAF F chr11_120083350_120083561_10110_1 1 . -1 -1 . -1 . . . . . . . chr11 120083069 120083545 OAF F chr11_120081428_120081878_11100_1:chr11_120083350_120083508_10110_1 2 . -1 -1 . -1 . . . . . . . chr11 121321006 121321403 SORL1 F chr11_121321810_121322536_10000_3:chr11_121322964_121323083_10100_1 2 . -1 -1 . -1 . . . . . . . chr11 121322411 121325009 SORL1 F chr11_121324455_121324653_11010_2 1 . -1 -1 . -1 . . . . . . . chr11 121324755 121324861 SORL1 F chr11_121322411_121322536_10000_3:chr11_121322964_121323083_10100_1:chr11_121323413_121323618_11010_1:chr11_121324341_121324653_11010_2 4 . -1 -1 . -1 . . . . . . . chr11 123984777 123984974 VWA5A F chr11_123985958_123986166_10000_1 1 . -1 -1 . -1 . . . . . . . chr11 126175725 126175882 DCPS F chr11_126173822_126173967_11000_1 1 . -1 -1 . -1 . . . . . . . chr11 128387749 128388099 ETS1 F chr11_128392183_128392323_11100_1 1 . -1 -1 . -1 . . . . . . . chr11 128388897 128389626 ETS1 F chr11_128392183_128392323_11100_1 1 . -1 -1 . -1 . . . . . . . chr11 128392930 128393222 ETS1 F chr11_128392183_128392323_11100_1 1 . -1 -1 . -1 . . . . . . . chr11 134124453 134124658 THYN1 F chr11_134123293_134123454_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 83400 85687 RAD52 S chr12_1058282_1058456_10000_1:chr12_1058812_1059180_11000_1 2 . -1 -1 . -1 . . . . . . . chr12 321469 323113 SLC6A12 F chr12_321954_322060_10000_2 1 . -1 -1 . -1 . . . . . . . chr12 321469 323363 SLC6A12 F chr12_321954_322060_10000_2 1 . -1 -1 . -1 . . . . . . . chr12 321469 323871 SLC6A12 F chr12_321954_322060_10000_2 1 . -1 -1 . -1 . . . . . . . chr12 321578 321760 SLC6A12 F chr12_321954_322234_10000_2:chr12_321954_322234_10000_2:chr12_321954_322234_10000_2:chr12_322788_323017_10000_1:chr12_322788_323017_10000_1:chr12_322788_323017_10000_1:chr12_323222_323363_10000_2:chr12_323222_323489_10000_2 8 . -1 -1 . -1 . . . . . . . chr12 860254 860664 WNK1 F chr12_860412_860602_10101_1:chr12_861007_861630_10101_2 2 . -1 -1 . -1 . . . . . . . chr12 860259 862589 WNK1 F chr12_860412_860602_10101_1 1 . -1 -1 . -1 . . . . . . . chr12 3979182 3979441 PARP11 F chr12_3982519_3982625_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 4378284 4379414 CCND2 F chr12_4382876_4382990_11000_1 1 . -1 -1 . -1 . . . . . . . chr12 4380607 4381576 CCND2 F chr12_4382876_4382990_11000_1 1 . -1 -1 . -1 . . . . . . . chr12 5542952 5543350 NTF3 F chr12_5542145_5542600_10101_3 1 . -1 -1 . -1 . . . . . . . chr12 6394380 6394668 ENSG00000111676 S chr12_7053011_7053132_11100_1 1 . -1 -1 . -1 . . . . . . . chr12 6454526 6454970 TNFRSF1A F chr12_6451118_6451378_11101_2 1 . -1 -1 . -1 . . . . . . . chr12 6455086 6455266 TNFRSF1A F chr12_6451118_6451378_11101_2 1 . -1 -1 . -1 . . . . . . . chr12 6532987 6533355 ENSG00000111676 S chr12_7053011_7053132_11100_1 1 . -1 -1 . -1 . . . . . . . chr12 6663248 6663743 IFFO1 F chr12_6665234_6665457_11101_1 1 . -1 -1 . -1 . . . . . . . chr12 6713705 6717051 CHD4 F chr12_6713889_6714068_11100_1 1 . -1 -1 . -1 . . . . . . . chr12 6713710 6714101 CHD4 F chr12_6713889_6714068_11100_1 1 . -1 -1 . -1 . . . . . . . chr12 6873427 6873901 PTMS F chr12_6875239_6875585_11101_1 1 . -1 -1 . -1 . . . . . . . chr12 6962211 6962407 USP5 F chr12_6961659_6961769_11101_1:chr12_6961659_6961769_11101_1 2 . -1 -1 . -1 . . . . . . . chr12 6963200 6963670 ENSG00000010626 S chr12_6982484_6982620_11000_1 1 . -1 -1 . -1 . . . . . . . chr12 7034584 7037980 ATN1 F chr12_7035030_7035138_10101_2 1 . -1 -1 . -1 . . . . . . . chr12 7034730 7034838 ATN1 F chr12_7035030_7035464_10101_2 1 . -1 -1 . -1 . . . . . . . chr12 7052400 7054091 ENSG00000111676 S chr12_6532987_6533085_11101_1:chr12_7244365_7244574_10000_2:chr12_7244827_7245223_10000_2 3 chr12 7053285 7053286 CM118220 + 1 DM NULL C12orf57 Intellectual disability ctccgctgaacctagagcttcagacgccct[A/G]TGGCGTCCGCCTCGACCCAACCGGCGGCCT 21937992 chr12 7052400 7054091 ENSG00000111676 S chr12_6532987_6533085_11101_1:chr12_7244365_7244574_10000_2:chr12_7244827_7245223_10000_2 3 chr12 7053738 7053739 CM131743 + 1 DM NULL C12orf57 Microphthalmia: colobomatous ATAACGCCTGCAACGACATGGGTAAGATGC[T/A]GCAATTCGTGCTGCCCGTGGCCACGCAGAT 23453665 chr12 7244365 7245225 ENSG00000111676 S chr12_7053011_7053132_11100_1 1 . -1 -1 . -1 . . . . . . . chr12 7341000 7341197 ENSG00000111671 S chr12_7000151_7000482_11100_2 1 . -1 -1 . -1 . . . . . . . chr12 7341000 7341197 ENSG00000111676 S chr12_7053011_7053132_11100_1 1 . -1 -1 . -1 . . . . . . . chr12 7341197 7341366 PEX5 S chr12_8059777_8059798_10000_3 1 . -1 -1 . -1 . . . . . . . chr12 8059984 8060166 ENSG00000182326 S chr12_7167938_7167969_11000_4 1 . -1 -1 . -1 . . . . . . . chr12 9266583 9266888 A2M S chr12_9284708_9285105_11000_3 1 . -1 -1 . -1 . . . . . . . chr12 9284434 9285369 A2M S chr12_9266603_9266855_11000_3 1 . -1 -1 . -1 . . . . . . . chr12 10281058 10281708 CLEC7A F chr12_10281279_10281454_11100_1 1 . -1 -1 . -1 . . . . . . . chr12 10281183 10283368 CLEC7A F chr12_10281279_10281454_11100_1 1 . -1 -1 . -1 . . . . . . . chr12 11806275 11806670 ETV6 F chr12_11802521_11802722_10000_2:chr12_11803644_11803942_11101_4 2 . -1 -1 . -1 . . . . . . . chr12 12502668 12504435 MANSC1 F chr12_12503963_12504436_10000_2 1 . -1 -1 . -1 . . . . . . . chr12 12504083 12504386 MANSC1 F chr12_12503149_12503262_11000_1:chr12_12503963_12504435_10000_2 2 . -1 -1 . -1 . . . . . . . chr12 12711400 12711706 DUSP16 F chr12_12714024_12714256_11000_2:chr12_12714542_12714714_11000_1:chr12_12715539_12715948_11000_1 3 . -1 -1 . -1 . . . . . . . chr12 12766295 12766634 CREBL2 F chr12_12764578_12764938_11101_3:chr12_12765474_12765609_10000_1 2 . -1 -1 . -1 . . . . . . . chr12 12872470 12873013 CDKN1B F chr12_12869991_12870309_11101_2 1 . -1 -1 . -1 . . . . . . . chr12 14994687 14996913 ART4 F chr12_14994737_14995068_11000_2 1 chr12 14995902 14995903 CS021167 - 2 FP rs55886089 ART4 Dombrock blood group variation GCCTGCAGAGACCCACAGAGGGTTCTGAGg[T/C]agggggacaattgagggggtgatctcttta 12028057 chr12 14994752 14995023 ART4 F chr12_14994737_14995068_11000_2:chr12_14995363_14995517_11000_2:chr12_14996446_14996777_10000_1 3 . -1 -1 . -1 . . . . . . . chr12 25207728 25208290 LRMP F chr12_25205479_25205691_10000_2 1 . -1 -1 . -1 . . . . . . . chr12 25209428 25209438 LRMP F chr12_25205479_25205691_10000_2 1 . -1 -1 . -1 . . . . . . . chr12 25402760 25403150 KRAS F chr12_25403842_25404354_11100_3 1 . -1 -1 . -1 . . . . . . . chr12 27678444 27678624 PPFIBP1 F chr12_27677025_27677573_11101_3 1 . -1 -1 . -1 . . . . . . . chr12 28122393 28126849 PTHLH F chr12_28126436_28126550_11000_1 1 . -1 -1 . -1 . . . . . . . chr12 28124415 28126849 PTHLH F chr12_28126436_28126550_11000_1 1 . -1 -1 . -1 . . . . . . . chr12 28126453 28126843 PTHLH F chr12_28126436_28126550_11000_1:chr12_28126436_28126550_11000_1 2 . -1 -1 . -1 . . . . . . . chr12 28127967 28128359 PTHLH F chr12_28126436_28126550_11000_1 1 . -1 -1 . -1 . . . . . . . chr12 28128658 28128812 PTHLH F chr12_28126436_28126550_11000_1 1 . -1 -1 . -1 . . . . . . . chr12 33048562 33050280 PKP2 F chr12_33048709_33048930_11101_2 1 chr12 33049442 33049443 CS102832 - 2 DM NULL PKP2 Arrhythmogenic right ventricular dysplasia/cardiomyopathy CCCGGAAGGGCCGCAGCTCCGTGGGCAACG[G/A]tgagtggagcccgccgctccccggcgccgc 20400443 chr12 33048562 33050280 PKP2 F chr12_33048709_33048930_11101_2 1 chr12 33049447 33049448 CI043219 - 6 DM NULL PKP2 Arrhythmogenic right ventricular dysplasia CCTCGCCCGGAAGGGCCGCAGCTCCGTGGG[-/G]CAACGGTGAGTGGAGCCCGCCGCTCCCCGG 15489853 chr12 33048562 33050280 PKP2 F chr12_33048709_33048930_11101_2 1 chr12 33049475 33049476 CI119144 - 6 DM NULL PKP2 Arrhythmogenic right ventricular cardiomyopathy TGCGGATCCAGGAGCAGGTGCAGCAGACCC[-/C]TCGCCCGGAAGGGCCGCAGCTCCGTGGGCA 22019812 chr12 33048562 33050280 PKP2 F chr12_33048709_33048930_11101_2 1 chr12 33049481 33049482 CD115350 - 5 DM NULL PKP2 Arrhythmogenic right ventricular cardiomyopathy AAGAGCCTGCGGATCCAGGAGCAGGTGCAG[CA/-]GACCCTCGCCCGGAAGGGCCGCAGCTCCGT 21723241 chr12 33048562 33050280 PKP2 F chr12_33048709_33048930_11101_2 1 chr12 33049482 33049483 CM061171 - 1 DM rs199601548 PKP2 Arrhythmogenic right ventricular dysplasia AAGAGCCTGCGGATCCAGGAGCAGGTGCAG[C/A]AGACCCTCGCCCGGAAGGGCCGCAGCTCCG 16567567 chr12 33048562 33050280 PKP2 F chr12_33048709_33048930_11101_2 1 chr12 33049490 33049491 CM085057 - 1 DM NULL PKP2 Arrhythmogenic right ventricular cardiomyopathy AGACAGTCAAGAGCCTGCGGATCCAGGAGC[A/T]GGTGCAGCAGACCCTCGCCCGGAAGGGCCG 17521752 chr12 33048562 33050280 PKP2 F chr12_33048709_33048930_11101_2 1 chr12 33049491 33049492 CM1313041 - 1 DM NULL PKP2 Arrhythmogenic right ventricular cardiomyopathy CAGACAGTCAAGAGCCTGCGGATCCAGGAG[C/T]AGGTGCAGCAGACCCTCGCCCGGAAGGGCC 24070718 chr12 33048562 33050280 PKP2 F chr12_33048709_33048930_11101_2 1 chr12 33049510 33049511 CM091987 - 1 DM rs201210997 PKP2 Arrhythmogenic right ventricular cardiomyopathy GAGCAGCGGCCGCGGCGGCCAGACAGTCAA[G/A]AGCCTGCGGATCCAGGAGCAGGTGCAGCAG 19302745 chr12 33048562 33050280 PKP2 F chr12_33048709_33048930_11101_2 1 chr12 33049515 33049518 CD043192 - 5 DM NULL PKP2 Arrhythmogenic right ventricular dysplasia CTGGCGGGGAGCAGCGGCCGCGGCGGCCAG[ACAG/-]TCAAGAGCCTGCGGATCCAGGAGCAGGTGC 15489853 chr12 33048562 33050280 PKP2 F chr12_33048709_33048930_11101_2 1 chr12 33049582 33049583 CD115349 - 5 DM NULL PKP2 Arrhythmogenic right ventricular cardiomyopathy CCAGCAGATCCTGGGACAACTGGACAGCTC[C/-]AGCCTGGCGCTGCCCTCCGAGGCCAAGCTG 21723241 chr12 33048562 33050280 PKP2 F chr12_33048709_33048930_11101_2 1 chr12 33049590 33049591 CM061172 - 1 DM rs143004808 PKP2 Arrhythmogenic right ventricular dysplasia GTCCTGGGCCAGCAGATCCTGGGACAACTG[G/A]ACAGCTCCAGCCTGGCGCTGCCCTCCGAGG 16567567 chr12 33048688 33048837 PKP2 F chr12_33048709_33048930_11101_2:chr12_33050053_33050280_11000_2 2 . -1 -1 . -1 . . . . . . . chr12 42984702 42985091 PRICKLE1 F chr12_42984122_42984261_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 46119600 46119800 SLC38A2 S chr12_46765759_46765951_11101_2:chr12_46766552_46766706_11101_1 2 . -1 -1 . -1 . . . . . . . chr12 46380247 46380714 SCAF11 F chr12_46383547_46383854_11000_1:chr12_46384367_46384871_11000_1 2 . -1 -1 . -1 . . . . . . . chr12 46381876 46382270 SCAF11 F chr12_46383547_46383854_11000_1:chr12_46384367_46384871_11000_1 2 . -1 -1 . -1 . . . . . . . chr12 46764813 46767783 SLC38A2 S chr12_46867394_46867752_11100_3:chr12_46887675_46887932_11100_1 2 . -1 -1 . -1 . . . . . . . chr12 46867053 46868247 SLC38A2 S chr12_46765759_46765951_11101_2:chr12_46766552_46766706_11101_1 2 . -1 -1 . -1 . . . . . . . chr12 46887600 46888613 SLC38A2 S chr12_46765759_46765951_11101_2:chr12_46766552_46766706_11101_1 2 . -1 -1 . -1 . . . . . . . chr12 47606000 47610552 FAM113B F chr12_47606188_47606471_10000_2 1 . -1 -1 . -1 . . . . . . . chr12 47606052 47606349 FAM113B F chr12_47606188_47606471_10000_2 1 . -1 -1 . -1 . . . . . . . chr12 47613849 47614234 FAM113B F chr12_47613107_47613325_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 48294356 48299314 VDR F chr12_48294427_48294550_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 48294417 48294695 VDR F chr12_48294427_48294550_10000_1:chr12_48298962_48299072_10000_1 2 . -1 -1 . -1 . . . . . . . chr12 48297772 48297979 VDR F chr12_48298962_48299072_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 49739011 49741541 DNAJC22 F chr12_49738729_49739002_11101_1 1 . -1 -1 . -1 . . . . . . . chr12 49739029 49739393 DNAJC22 F chr12_49740454_49740576_10100_1 1 . -1 -1 . -1 . . . . . . . chr12 50221084 50221421 NCKAP5L F chr12_50222286_50222401_10100_1 1 . -1 -1 . -1 . . . . . . . chr12 52414400 52414649 KRT8 S chr12_53297746_53298006_10101_2:chr12_53298780_53299103_10101_1 2 . -1 -1 . -1 . . . . . . . chr12 52418719 52418897 NR4A1 F chr12_52417539_52417640_10001_1 1 . -1 -1 . -1 . . . . . . . chr12 52419301 52419935 NR4A1 F chr12_52417539_52417640_10001_1 1 . -1 -1 . -1 . . . . . . . chr12 52460600 52461200 KRT8 S chr12_53297746_53298006_10101_2:chr12_53298780_53299103_10101_1 2 . -1 -1 . -1 . . . . . . . chr12 53273972 53274400 KRT8 S chr12_53297746_53298006_10101_2:chr12_53298780_53299103_10101_1 2 . -1 -1 . -1 . . . . . . . chr12 53277984 53278971 KRT8 S chr12_53297746_53298006_10101_2:chr12_53298780_53299103_10101_1 2 . -1 -1 . -1 . . . . . . . chr12 53297052 53299224 KRT8 S chr12_53278291_53278554_10000_3:chr12_53405711_53406084_10000_3:chr12_53455230_53455537_11000_2:chr12_53568800_53568929_11101_4:chr12_53932007_53932565_11001_3 5 chr12 53298504 53298505 CM1210284 - 1 DM NULL KRT8 Cryptogenic liver disease CTGGAGGTGGACCCCAACATCCAGGCCGTG[C/T]GCACCCAGGAGAAGGAGCAGATCAAGACCC 22419260 chr12 53297052 53299224 KRT8 S chr12_53278291_53278554_10000_3:chr12_53405711_53406084_10000_3:chr12_53455230_53455537_11000_2:chr12_53568800_53568929_11101_4:chr12_53932007_53932565_11001_3 5 chr12 53298570 53298571 CM1210282 - 1 DM NULL KRT8 Cryptogenic liver disease GGGGCCAGCGGCATGGGAGGCATCACCGCA[G/A]TTACGGTCAACCAGAGCCTGCTGAGCCCCC 22419260 chr12 53297052 53299224 KRT8 S chr12_53278291_53278554_10000_3:chr12_53405711_53406084_10000_3:chr12_53455230_53455537_11000_2:chr12_53568800_53568929_11101_4:chr12_53932007_53932565_11001_3 5 chr12 53298573 53298574 CM1210283 - 1 DM NULL KRT8 Cryptogenic liver disease GGTGGGGCCAGCGGCATGGGAGGCATCACC[G/A]CAGTTACGGTCAACCAGAGCCTGCTGAGCC 22419260 chr12 53297052 53299224 KRT8 S chr12_53278291_53278554_10000_3:chr12_53405711_53406084_10000_3:chr12_53455230_53455537_11000_2:chr12_53568800_53568929_11101_4:chr12_53932007_53932565_11001_3 5 chr12 53298579 53298580 CM044656 - 1 DM rs59536457 KRT8 Inflammatory bowel disease GGCTATGGTGGGGCCAGCGGCATGGGAGGC[A/G]TCACCGCAGTTACGGTCAACCAGAGCCTGC 15090596 chr12 53297052 53299224 KRT8 S chr12_53278291_53278554_10000_3:chr12_53405711_53406084_10000_3:chr12_53455230_53455537_11000_2:chr12_53568800_53568929_11101_4:chr12_53932007_53932565_11001_3 5 chr12 53298582 53298583 CM011797 - 1 DM? rs11554495 KRT8 Cryptogenic liver disease GGCGGCTATGGTGGGGCCAGCGGCATGGGA[G/T]GCATCACCGCAGTTACGGTCAACCAGAGCC 11372009 chr12 53297052 53299224 KRT8 S chr12_53278291_53278554_10000_3:chr12_53405711_53406084_10000_3:chr12_53455230_53455537_11000_2:chr12_53568800_53568929_11101_4:chr12_53932007_53932565_11001_3 5 chr12 53298602 53298603 CM066898 - 1 DM rs57282588 KRT8 Fibrosis progression in hepatitis C infection ACTTTCGCGGTGGCCTGGGCGGCGGCTATG[G/C]TGGGGCCAGCGGCATGGGAGGCATCACCGC 16729313 chr12 53297052 53299224 KRT8 S chr12_53278291_53278554_10000_3:chr12_53405711_53406084_10000_3:chr12_53455230_53455537_11000_2:chr12_53568800_53568929_11101_4:chr12_53932007_53932565_11001_3 5 chr12 53298606 53298607 CM011796 - 1 DM rs57749775 KRT8 Cryptogenic liver disease AGCAACTTTCGCGGTGGCCTGGGCGGCGGC[T/C]ATGGTGGGGCCAGCGGCATGGGAGGCATCA 11372009 chr12 53297052 53299224 KRT8 S chr12_53278291_53278554_10000_3:chr12_53405711_53406084_10000_3:chr12_53455230_53455537_11000_2:chr12_53568800_53568929_11101_4:chr12_53932007_53932565_11001_3 5 chr12 53298608 53298609 CM034544 - 1 DM? rs61710484 KRT8 Liver disease: susceptibility to GCAGCAACTTTCGCGGTGGCCTGGGCGGCG[G/T]CTATGGTGGGGCCAGCGGCATGGGAGGCAT 12724528 chr12 53297052 53299224 KRT8 S chr12_53278291_53278554_10000_3:chr12_53405711_53406084_10000_3:chr12_53455230_53455537_11000_2:chr12_53568800_53568929_11101_4:chr12_53932007_53932565_11001_3 5 chr12 53298689 53298690 CM066895 - 1 DM rs57286292 KRT8 Fibrosis progression in hepatitis C infection GCCCCCGGGCCTTCAGCAGCCGCTCCTACA[C/G]GAGTGGGCCCGGTTCCCGCATCAGCTCCTC 16729313 chr12 53298367 53302182 KRT8 F chr12_53301910_53302208_10000_1 1 chr12 53298504 53298505 CM1210284 - 1 DM NULL KRT8 Cryptogenic liver disease CTGGAGGTGGACCCCAACATCCAGGCCGTG[C/T]GCACCCAGGAGAAGGAGCAGATCAAGACCC 22419260 chr12 53298367 53302182 KRT8 F chr12_53301910_53302208_10000_1 1 chr12 53298570 53298571 CM1210282 - 1 DM NULL KRT8 Cryptogenic liver disease GGGGCCAGCGGCATGGGAGGCATCACCGCA[G/A]TTACGGTCAACCAGAGCCTGCTGAGCCCCC 22419260 chr12 53298367 53302182 KRT8 F chr12_53301910_53302208_10000_1 1 chr12 53298573 53298574 CM1210283 - 1 DM NULL KRT8 Cryptogenic liver disease GGTGGGGCCAGCGGCATGGGAGGCATCACC[G/A]CAGTTACGGTCAACCAGAGCCTGCTGAGCC 22419260 chr12 53298367 53302182 KRT8 F chr12_53301910_53302208_10000_1 1 chr12 53298579 53298580 CM044656 - 1 DM rs59536457 KRT8 Inflammatory bowel disease GGCTATGGTGGGGCCAGCGGCATGGGAGGC[A/G]TCACCGCAGTTACGGTCAACCAGAGCCTGC 15090596 chr12 53298367 53302182 KRT8 F chr12_53301910_53302208_10000_1 1 chr12 53298582 53298583 CM011797 - 1 DM? rs11554495 KRT8 Cryptogenic liver disease GGCGGCTATGGTGGGGCCAGCGGCATGGGA[G/T]GCATCACCGCAGTTACGGTCAACCAGAGCC 11372009 chr12 53298367 53302182 KRT8 F chr12_53301910_53302208_10000_1 1 chr12 53298602 53298603 CM066898 - 1 DM rs57282588 KRT8 Fibrosis progression in hepatitis C infection ACTTTCGCGGTGGCCTGGGCGGCGGCTATG[G/C]TGGGGCCAGCGGCATGGGAGGCATCACCGC 16729313 chr12 53298367 53302182 KRT8 F chr12_53301910_53302208_10000_1 1 chr12 53298606 53298607 CM011796 - 1 DM rs57749775 KRT8 Cryptogenic liver disease AGCAACTTTCGCGGTGGCCTGGGCGGCGGC[T/C]ATGGTGGGGCCAGCGGCATGGGAGGCATCA 11372009 chr12 53298367 53302182 KRT8 F chr12_53301910_53302208_10000_1 1 chr12 53298608 53298609 CM034544 - 1 DM? rs61710484 KRT8 Liver disease: susceptibility to GCAGCAACTTTCGCGGTGGCCTGGGCGGCG[G/T]CTATGGTGGGGCCAGCGGCATGGGAGGCAT 12724528 chr12 53298367 53302182 KRT8 F chr12_53301910_53302208_10000_1 1 chr12 53298689 53298690 CM066895 - 1 DM rs57286292 KRT8 Fibrosis progression in hepatitis C infection GCCCCCGGGCCTTCAGCAGCCGCTCCTACA[C/G]GAGTGGGCCCGGTTCCCGCATCAGCTCCTC 16729313 chr12 53301815 53302147 KRT8 F chr12_53298780_53299103_10101_1:chr12_53301910_53302182_10000_1 2 . -1 -1 . -1 . . . . . . . chr12 53338460 53338676 KRT18 F chr12_53339725_53339944_11000_3:chr12_53339725_53339944_11000_3:chr12_53340742_53340955_11000_3:chr12_53340742_53340955_11000_3:chr12_53342595_53342884_00000_1:chr12_53342595_53342884_00000_1 6 . -1 -1 . -1 . . . . . . . chr12 53339251 53343155 KRT18 F chr12_53339725_53339857_11000_3 1 chr12 53343100 53343101 CM109390 + 1 DM? NULL KRT18 Liver disease GCGCTGGGGGCTCTGGTTCCCGGATCTCCG[T/C]GTCCCGCTCCACCAGCTTCAGGGGCGGCAT 20538000 chr12 53339251 53343343 KRT18 F chr12_53339725_53339857_11000_3 1 chr12 53343100 53343101 CM109390 + 1 DM? NULL KRT18 Liver disease GCGCTGGGGGCTCTGGTTCCCGGATCTCCG[T/C]GTCCCGCTCCACCAGCTTCAGGGGCGGCAT 20538000 chr12 53339251 53343343 KRT18 F chr12_53339725_53339857_11000_3 1 chr12 53343163 53343164 CM109391 + 1 DM? NULL KRT18 Liver disease GGTCCGGGGGCCTGGCCACCGGGATAGCCG[G/C]GGGTCTGGCAGGAATGGGAGGCATCCAGAA 20538000 chr12 53339251 53343343 KRT18 F chr12_53339725_53339857_11000_3 1 chr12 53343264 53343265 CM034541 + 1 DM? rs61136606 KRT18 Liver disease: susceptibility to TCTTACCTGGACAGAGTGAGGAGCCTGGAG[A/G]CCGAGAACCGGAGGCTGGAGAGCAAAATCC 12724528 chr12 53339251 53343343 KRT18 F chr12_53339725_53339857_11000_3 1 chr12 53343340 53343341 CM970842 + 1 DM rs57758506 KRT18 Cryptogenic cirrhosis AGAAGGGACCCCAGGTCAGAGACTGGAGCC[A/T]TTACTTCAAGATCATCGAGGACCTGAGGGC 9011570 chr12 53339346 53339557 KRT18 F chr12_53339725_53339944_11000_3:chr12_53339725_53339944_11000_3:chr12_53340742_53340955_11000_3:chr12_53340742_53340955_11000_3:chr12_53342595_53342884_00000_1:chr12_53342595_53342884_00000_1 6 . -1 -1 . -1 . . . . . . . chr12 53374890 53375000 ATP5G2 S chr12_54069813_54070015_10100_2 1 . -1 -1 . -1 . . . . . . . chr12 53374890 53375000 KRT8 S chr12_53297746_53298006_10101_2:chr12_53298780_53299103_10101_1:chr12_53321153_53321426_11000_2 3 . -1 -1 . -1 . . . . . . . chr12 53374890 53375000 PCBP2 S chr12_53845588_53845847_11101_2 1 . -1 -1 . -1 . . . . . . . chr12 53405400 53406200 KRT8 S chr12_53297746_53298006_10101_2:chr12_53298780_53299103_10101_1 2 . -1 -1 . -1 . . . . . . . chr12 53442232 53445405 TENC1 F chr12_53444964_53445692_11000_3 1 . -1 -1 . -1 . . . . . . . chr12 53443334 53445405 TENC1 F chr12_53444964_53445692_11000_3 1 . -1 -1 . -1 . . . . . . . chr12 53445016 53445392 TENC1 F chr12_53442329_53442469_10000_1:chr12_53443430_53443921_11000_1:chr12_53443430_53443921_11000_1:chr12_53444964_53445405_11000_3:chr12_53444964_53445405_11000_3 5 . -1 -1 . -1 . . . . . . . chr12 53455094 53455869 KRT8 S chr12_53297746_53298006_10101_2:chr12_53298780_53299103_10101_1 2 . -1 -1 . -1 . . . . . . . chr12 53493221 53493397 IGFBP6 S chr12_53278291_53278554_10000_3:chr12_53568800_53568929_11101_4 2 . -1 -1 . -1 . . . . . . . chr12 53553428 53553567 ENSG00000257808 S chr12_53568800_53568929_11101_4 1 . -1 -1 . -1 . . . . . . . chr12 53568800 53569350 KRT8 S chr12_53297746_53298006_10101_2:chr12_53298780_53299103_10101_1 2 . -1 -1 . -1 . . . . . . . chr12 53932007 53932689 KRT8 S chr12_53297746_53298006_10101_2:chr12_53298780_53299103_10101_1 2 . -1 -1 . -1 . . . . . . . chr12 54072437 54072838 ATP5G2 F chr12_54070011_54070134_10100_2 1 . -1 -1 . -1 . . . . . . . chr12 54694290 54698503 NFE2 F chr12_54698021_54698236_10101_3 1 . -1 -1 . -1 . . . . . . . chr12 54698103 54698502 NFE2 F chr12_54698021_54698236_10101_3 1 . -1 -1 . -1 . . . . . . . chr12 54754477 54754933 GPR84 F chr12_54756912_54757114_11000_1 1 . -1 -1 . -1 . . . . . . . chr12 54810296 54811355 ITGA5 F chr12_54811124_54811308_11000_1:chr12_54812968_54813152_11000_1 2 . -1 -1 . -1 . . . . . . . chr12 54810625 54813550 ITGA5 F chr12_54810127_54810515_11000_1:chr12_54811124_54811308_11000_1 2 . -1 -1 . -1 . . . . . . . chr12 54815757 54815842 ITGA5 F chr12_54812968_54813152_11000_1 1 . -1 -1 . -1 . . . . . . . chr12 54817026 54817278 ITGA5 F chr12_54812968_54813152_11000_1 1 . -1 -1 . -1 . . . . . . . chr12 54941805 54942012 PDE1B F chr12_54943052_54943200_11000_1 1 . -1 -1 . -1 . . . . . . . chr12 55893043 55893800 ERBB3 S chr12_56473727_56473949_11000_2:chr12_56474598_56474893_11000_3:chr12_56475685_56475913_11000_3 3 . -1 -1 . -1 . . . . . . . chr12 56113704 56114862 ERBB3 S chr12_56473727_56473949_11000_2:chr12_56474598_56474893_11000_3:chr12_56475685_56475913_11000_3 3 . -1 -1 . -1 . . . . . . . chr12 56131238 56131600 ERBB3 S chr12_56473727_56473949_11000_2:chr12_56474598_56474893_11000_3:chr12_56475685_56475913_11000_3 3 . -1 -1 . -1 . . . . . . . chr12 56132600 56132728 ERBB3 S chr12_56473727_56473949_11000_2:chr12_56474598_56474893_11000_3:chr12_56475685_56475913_11000_3 3 . -1 -1 . -1 . . . . . . . chr12 56356198 56356265 PMEL F chr12_56360230_56360346_11110_2 1 . -1 -1 . -1 . . . . . . . chr12 56390136 56390200 ERBB3 S chr12_56473727_56473949_11000_2:chr12_56474598_56474893_11000_3:chr12_56475685_56475913_11000_3 3 . -1 -1 . -1 . . . . . . . chr12 56435310 56436339 RPS26 S chr12_57030800_57030988_11010_1 1 chr12 56435929 56435930 CR1310395 + 3 FP rs1131017 RPS26 Altered translational efficiency ATAGGAGGGCCCTGCCAGGCACCGTCTCCT[C/G]TCTCCGGTCCGTGCCTCCAAGATGGTGAGT 23900168 chr12 56435310 56436339 RPS26 S chr12_57030800_57030988_11010_1 1 chr12 56435951 56435952 CM101048 + 1 DM rs143951267 RPS26 Diamond-Blackfan anaemia cgtctcctctctccggtccgtgcctccaag[A/T]TGgtgagtcttcttgcgtggtgagggtggg 20116044 chr12 56435310 56436339 RPS26 S chr12_57030800_57030988_11010_1 1 chr12 56435951 56435952 CM101049 + 1 DM rs143951267 RPS26 Diamond-Blackfan anaemia cgtctcctctctccggtccgtgcctccaag[A/G]TGgtgagtcttcttgcgtggtgagggtggg 20116044 chr12 56435310 56436339 RPS26 S chr12_57030800_57030988_11010_1 1 chr12 56435951 56435952 CM112487 + 1 DM NULL RPS26 Diamond-Blackfan anaemia cgtctcctctctccggtccgtgcctccaag[A/C]TGgtgagtcttcttgcgtggtgagggtggg 21414820 chr12 56435310 56436339 RPS26 S chr12_57030800_57030988_11010_1 1 chr12 56435952 56435953 CM101050 + 1 DM NULL RPS26 Diamond-Blackfan anaemia gtctcctctctccggtccgtgcctccaagA[T/G]Ggtgagtcttcttgcgtggtgagggtgggg 20116044 chr12 56435310 56436339 RPS26 S chr12_57030800_57030988_11010_1 1 chr12 56435953 56435954 CM112488 + 1 DM NULL RPS26 Diamond-Blackfan anaemia tctcctctctccggtccgtgcctccaagAT[G/A]gtgagtcttcttgcgtggtgagggtggggg 21414820 chr12 56435310 56436339 RPS26 S chr12_57030800_57030988_11010_1 1 chr12 56435954 56435955 CS101056 + 2 DM NULL RPS26 Diamond-Blackfan anaemia CTCCTCTCTCCGGTCCGTGCCTCCAAGATG[G/C]tgagtcttcttgcgtggtgagggtgggggt 20116044 chr12 56435310 56436339 RPS26 S chr12_57030800_57030988_11010_1 1 chr12 56435954 56435955 CS101057 + 2 DM rs148622862 RPS26 Diamond-Blackfan anaemia CTCCTCTCTCCGGTCCGTGCCTCCAAGATG[G/A]tgagtcttcttgcgtggtgagggtgggggt 20116044 chr12 56435310 56436339 RPS26 S chr12_57030800_57030988_11010_1 1 chr12 56435954 56435955 CS101109 + 2 DM NULL RPS26 Diamond-Blackfan anaemia CTCCTCTCTCCGGTCCGTGCCTCCAAGATG[G/T]tgagtcttcttgcgtggtgagggtgggggt 20116044 chr12 56435310 56436339 RPS26 S chr12_57030800_57030988_11010_1 1 chr12 56436208 56436209 CS112489 + 2 DM? NULL RPS26 Diamond-Blackfan anaemia ttttcctaacagttttcccatcctgtcgca[G/A]ACAAAGAAAAGAAGGAACAATGGTCGTGCC 21414820 chr12 56435310 56436339 RPS26 S chr12_57030800_57030988_11010_1 1 chr12 56436214 56436217 CD122319 + 5 DM NULL RPS26 Diamond-Blackfan anaemia TAACAGTTTTCCCATCCTGTCGCAGACAAA[GAAA/-]AGAAGGAACAATGGTCGTGCCAAAAAGGGC 22381658 chr12 56435310 56436339 RPS26 S chr12_57030800_57030988_11010_1 1 chr12 56436236 56436237 CI101054 + 6 DM NULL RPS26 Diamond-Blackfan anaemia AGACAAAGAAAAGAAGGAACAATGGTCGTG[-/G]CCAAAAAGGGCCGCGGCCACGTGCAGCCTA 20116044 chr12 56435310 56436339 RPS26 S chr12_57030800_57030988_11010_1 1 chr12 56436302 56436303 CM101051 + 1 DM rs267607023 RPS26 Diamond-Blackfan anaemia TGCACTAACTGTGCCCGATGCGTGCCCAAG[G/A]ACAAGGCCATTAAGAAATTCGTCATTCGAA 20116044 chr12 56472775 56476127 ERBB3 S chr12_56114048_56114324_11111_1:chr12_56114708_56114862_11011_3:chr12_56513433_56513544_10000_2:chr12_57030800_57030988_11010_1 4 . -1 -1 . -1 . . . . . . . chr12 56473308 56474932 ERBB3 F chr12_56474598_56474893_11000_3 1 . -1 -1 . -1 . . . . . . . chr12 56473391 56474932 ERBB3 F chr12_56474598_56474893_11000_3 1 . -1 -1 . -1 . . . . . . . chr12 56474601 56474862 ERBB3 F chr12_56473727_56473949_11000_2:chr12_56473727_56473949_11000_2:chr12_56474598_56474893_11000_3:chr12_56474598_56474893_11000_3 4 . -1 -1 . -1 . . . . . . . chr12 56513433 56513713 ERBB3 S chr12_56473727_56473949_11000_2:chr12_56474598_56474893_11000_3:chr12_56475685_56475913_11000_3 3 . -1 -1 . -1 . . . . . . . chr12 56551334 56552615 MYL6 S chr12_57030800_57030988_11010_1 1 . -1 -1 . -1 . . . . . . . chr12 56696400 56696413 ERBB3 S chr12_56473727_56473949_11000_2:chr12_56474598_56474893_11000_3:chr12_56475685_56475913_11000_3 3 . -1 -1 . -1 . . . . . . . chr12 56696400 56696413 LRP1 S chr12_57521011_57522224_11111_2 1 . -1 -1 . -1 . . . . . . . chr12 56727032 56731836 PAN2 F chr12_56731539_56731770_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 56727336 56731836 PAN2 F chr12_56731539_56731770_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 56731435 56733163 IL23A F chr12_56731539_56731770_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 56731526 56731745 IL23A F chr12_56731539_56731770_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 56731526 56731745 PAN2 F chr12_56727784_56727943_10000_1:chr12_56727784_56727943_10000_1:chr12_56731539_56731770_10000_1:chr12_56731539_56731770_10000_1 4 . -1 -1 . -1 . . . . . . . chr12 56752555 56754537 STAT2 F chr12_56753076_56753232_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 56752579 56752932 STAT2 F chr12_56753076_56753247_10000_1:chr12_56753850_56754537_11000_2 2 . -1 -1 . -1 . . . . . . . chr12 57030800 57031327 ERBB3 S chr12_56473727_56473949_11000_2:chr12_56474598_56474893_11000_3:chr12_56475685_56475913_11000_3 3 . -1 -1 . -1 . . . . . . . chr12 57030800 57031327 LRP1 S chr12_57521011_57522224_11111_2 1 . -1 -1 . -1 . . . . . . . chr12 57030800 57031327 MYL6 S chr12_56551521_56551726_10101_1:chr12_56551963_56552171_11100_1 2 . -1 -1 . -1 . . . . . . . chr12 57030800 57031327 RPS26 S chr12_56435509_56435833_11010_1 1 . -1 -1 . -1 . . . . . . . chr12 57030800 57031327 STAT6 S chr12_57504176_57504381_10111_2:chr12_57505138_57505252_10111_1:chr12_57505872_57506263_11101_3 3 . -1 -1 . -1 . . . . . . . chr12 57504082 57506455 STAT6 S chr12_57030800_57030988_11010_1:chr12_57762294_57762600_11010_2 2 . -1 -1 . -1 . . . . . . . chr12 57521011 57522426 LRP1 S chr12_57030800_57030988_11010_1:chr12_57762294_57762600_11010_2:chr12_57855189_57855318_10101_1 3 chr12 57522257 57522258 CR022888 + 3 FP rs138854007 LRP1 Increased expression CCCGTCCCCTCCCTCTCCCCCATCAGCCCC[C/G]CCCTCGGCACTTCAGTCCGGGGAACAGCGG 12402342 chr12 57521781 57524070 LRP1 F chr12_57523855_57524113_10111_1 1 chr12 57522257 57522258 CR022888 + 3 FP rs138854007 LRP1 Increased expression CCCGTCCCCTCCCTCTCCCCCATCAGCCCC[C/G]CCCTCGGCACTTCAGTCCGGGGAACAGCGG 12402342 chr12 57523550 57524188 LRP1 F chr12_57521781_57522224_11111_2:chr12_57523855_57524070_10111_1 2 . -1 -1 . -1 . . . . . . . chr12 57635972 57636429 NDUFA4L2 F chr12_57634389_57634558_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 57762091 57762600 LRP1 S chr12_57521011_57522224_11111_2 1 . -1 -1 . -1 . . . . . . . chr12 57762091 57762600 STAT6 S chr12_57504176_57504381_10111_2:chr12_57505138_57505252_10111_1:chr12_57505872_57506263_11101_3 3 . -1 -1 . -1 . . . . . . . chr12 57853600 57856493 LRP1 S chr12_57521011_57522224_11111_2 1 . -1 -1 . -1 . . . . . . . chr12 57853600 57856493 TSFM S chr12_58176400_58176647_11000_1 1 . -1 -1 . -1 . . . . . . . chr12 58168960 58169095 METTL1 F chr12_58165552_58166010_11000_3:chr12_58166282_58166432_11000_1 2 . -1 -1 . -1 . . . . . . . chr12 58168960 58169095 METTL21B F chr12_58165882_58166010_11000_3:chr12_58166282_58166432_11000_1 2 . -1 -1 . -1 . . . . . . . chr12 58176320 58176991 TSFM S chr12_57855189_57855318_10101_1:chr12_59159507_59160127_11000_4:chr12_59160391_59160533_10000_1 3 . -1 -1 . -1 . . . . . . . chr12 58238225 58238735 CTDSP2 F chr12_58238518_58238692_11000_2:chr12_58239288_58239756_11110_3:chr12_58240467_58240664_11000_1 3 . -1 -1 . -1 . . . . . . . chr12 58238280 58241247 CTDSP2 F chr12_58238518_58238692_11000_2 1 . -1 -1 . -1 . . . . . . . chr12 59159396 59160728 TSFM S chr12_58176400_58176647_11000_1 1 . -1 -1 . -1 . . . . . . . chr12 59310665 59313827 LRIG3 F chr12_59310632_59310800_10111_1 1 . -1 -1 . -1 . . . . . . . chr12 59310665 59314762 LRIG3 F chr12_59310632_59310800_10111_1 1 . -1 -1 . -1 . . . . . . . chr12 59310774 59310957 LRIG3 F chr12_59310665_59310800_10111_1:chr12_59310665_59310800_10111_1:chr12_59312979_59313144_11100_1:chr12_59312979_59313144_11100_1 4 . -1 -1 . -1 . . . . . . . chr12 62650628 62651393 USP15 F chr12_62654006_62654560_11101_1 1 . -1 -1 . -1 . . . . . . . chr12 66697484 66697842 HELB F chr12_66695865_66696382_11101_2 1 . -1 -1 . -1 . . . . . . . chr12 69006143 69006530 RAP1B F chr12_69004118_69004160_10100_2 1 . -1 -1 . -1 . . . . . . . chr12 69200663 69200867 MDM2 F chr12_69201608_69201809_00000_2:chr12_69202456_69202471_11111_2 2 . -1 -1 . -1 . . . . . . . chr12 69358211 69358538 CPM F chr12_69357036_69357429_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 69634325 69634686 CPSF6 F chr12_69633185_69633399_11101_2 1 . -1 -1 . -1 . . . . . . . chr12 69868200 69868446 FRS2 F chr12_69864007_69864187_11100_2:chr12_69864765_69865210_11110_1 2 . -1 -1 . -1 . . . . . . . chr12 70634012 70634396 CNOT2 F chr12_70636503_70636678_11001_2:chr12_70636503_70636678_11001_2:chr12_70636503_70636678_11001_2:chr12_70637086_70637274_11111_1:chr12_70637086_70637281_11111_1:chr12_70637086_70637281_11111_1 6 . -1 -1 . -1 . . . . . . . chr12 71555404 71555561 TSPAN8 F chr12_71551860_71551985_10000_1:chr12_71552507_71552685_10000_1:chr12_71553183_71553422_10000_2 3 . -1 -1 . -1 . . . . . . . chr12 75872187 75875013 GLIPR1 F chr12_75872287_75872424_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 75872211 75872563 GLIPR1 F chr12_75872287_75872424_10000_1:chr12_75874384_75874601_10000_1 2 . -1 -1 . -1 . . . . . . . chr12 75877380 75877665 GLIPR1 F chr12_75874384_75874601_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 75900907 75901415 KRR1 F chr12_75902038_75902215_10000_1:chr12_75905408_75905586_11111_1 2 . -1 -1 . -1 . . . . . . . chr12 75902457 75905918 KRR1 F chr12_75902159_75902215_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 75902459 75902855 KRR1 F chr12_75905408_75905586_11111_1 1 . -1 -1 . -1 . . . . . . . chr12 76949947 76950382 OSBPL8 F chr12_76953479_76953735_11000_2 1 . -1 -1 . -1 . . . . . . . chr12 85673535 85675038 ALX1 F chr12_85674534_85674755_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 85674653 85675022 ALX1 F chr12_85674534_85674755_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 89739400 89739414 DUSP6 S chr12_89746288_89747264_11111_4:chr12_89747697_89747837_11101_1:chr12_89748657_89748784_11000_1 3 . -1 -1 . -1 . . . . . . . chr12 89739511 89739744 DUSP6 S chr12_89746288_89747264_11111_4:chr12_89747697_89747837_11101_1:chr12_89748657_89748784_11000_1 3 . -1 -1 . -1 . . . . . . . chr12 89739967 89740000 DUSP6 S chr12_89746288_89747264_11111_4:chr12_89747697_89747837_11101_1:chr12_89748657_89748784_11000_1 3 . -1 -1 . -1 . . . . . . . chr12 93320988 93321201 EEA1 F chr12_93321540_93321785_10110_1 1 . -1 -1 . -1 . . . . . . . chr12 93321488 93323607 EEA1 F chr12_93321540_93321785_10110_1 1 . -1 -1 . -1 . . . . . . . chr12 93321551 93321826 EEA1 F chr12_93321540_93321785_10110_1 1 . -1 -1 . -1 . . . . . . . chr12 93770252 93772201 NUDT4 F chr12_93770852_93770875_10010_2 1 . -1 -1 . -1 . . . . . . . chr12 93770329 93770575 NUDT4 F chr12_93770852_93771337_10010_2:chr12_93771615_93771977_10000_1 2 . -1 -1 . -1 . . . . . . . chr12 94541998 94545965 PLXNC1 F chr12_94545384_94545755_10000_1:chr12_94546116_94546250_10000_4 2 . -1 -1 . -1 . . . . . . . chr12 94541998 94546572 PLXNC1 F chr12_94546116_94546303_10000_4:chr12_94546584_94546805_10000_2 2 . -1 -1 . -1 . . . . . . . chr12 94545578 94545950 PLXNC1 F chr12_94545384_94545755_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 94546167 94546575 PLXNC1 F chr12_94545384_94545755_10000_1:chr12_94546116_94546303_10000_4 2 . -1 -1 . -1 . . . . . . . chr12 95042993 95044824 TMCC3 F chr12_95042944_95043113_11111_2 1 . -1 -1 . -1 . . . . . . . chr12 95043067 95043319 TMCC3 F chr12_95042993_95043113_11111_2 1 . -1 -1 . -1 . . . . . . . chr12 95609786 95609977 FGD6 F chr12_95611190_95611300_11100_1 1 . -1 -1 . -1 . . . . . . . chr12 96589359 96589977 ELK3 F chr12_96588141_96588307_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 96794959 96795305 CDK17 F chr12_96793942_96794052_11100_1 1 . -1 -1 . -1 . . . . . . . chr12 102269445 102269658 DRAM1 F chr12_102271128_102271464_10000_2 1 . -1 -1 . -1 . . . . . . . chr12 105321971 105324782 SLC41A2 F chr12_105324556_105324672_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 105324484 105324678 SLC41A2 F chr12_105324556_105324672_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 107377522 107377900 MTERFD3 F chr12_107381025_107381153_11100_1 1 . -1 -1 . -1 . . . . . . . chr12 109058180 109058722 UNG S chr12_109531241_109531359_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 109248007 109248657 SSH1 F chr12_109248132_109248256_11000_1:chr12_109251471_109251653_10100_2 2 . -1 -1 . -1 . . . . . . . chr12 109248132 109251859 SSH1 F chr12_109248068_109248256_11000_1 1 . -1 -1 . -1 . . . . . . . chr12 109249389 109249909 SSH1 F chr12_109251471_109251653_10100_2 1 . -1 -1 . -1 . . . . . . . chr12 109531098 109531493 UNG S chr12_109058352_109058722_11101_2:chr12_110476926_110477178_10000_2 2 . -1 -1 . -1 . . . . . . . chr12 109825399 109825491 MYO1H S chr12_109058352_109058722_11101_2 1 . -1 -1 . -1 . . . . . . . chr12 110476800 110477400 UNG S chr12_109531241_109531359_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 111019861 111021564 PPTC7 F chr12_111019612_111019792_11000_1:chr12_111020256_111020549_11000_1 2 . -1 -1 . -1 . . . . . . . chr12 111019873 111020249 PPTC7 F chr12_111020256_111020564_11000_1:chr12_111021073_111021341_11000_1 2 . -1 -1 . -1 . . . . . . . chr12 111023118 111023488 PPTC7 F chr12_111020563_111020564_11000_1:chr12_111021073_111021341_11000_1:chr12_111021623_111021867_11000_1 3 . -1 -1 . -1 . . . . . . . chr12 111473237 111473713 CUX2 F chr12_111472155_111472260_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 111847309 111847501 SH2B3 F chr12_111843251_111843331_10000_2:chr12_111844629_111844763_10000_1 2 . -1 -1 . -1 . . . . . . . chr12 111847615 111848064 SH2B3 F chr12_111843251_111843331_10000_2:chr12_111844629_111844763_10000_1 2 . -1 -1 . -1 . . . . . . . chr12 113658759 113661319 TPCN1 F chr12_113660935_113661299_11100_3 1 . -1 -1 . -1 . . . . . . . chr12 113660919 113661318 TPCN1 F chr12_113658877_113659250_11100_2:chr12_113660935_113661299_11100_3 2 . -1 -1 . -1 . . . . . . . chr12 113855961 113856499 SDSL F chr12_113856121_113856555_11101_2:chr12_113858797_113859198_11101_1:chr12_113860142_113860385_11101_1 3 . -1 -1 . -1 . . . . . . . chr12 113856030 113860716 SDSL F chr12_113856121_113856555_11101_2 1 . -1 -1 . -1 . . . . . . . chr12 113858250 113860716 SDSL F chr12_113858797_113858813_11101_1 1 . -1 -1 . -1 . . . . . . . chr12 113858388 113858513 SDSL F chr12_113858797_113859198_11101_1:chr12_113860142_113860385_11101_1 2 . -1 -1 . -1 . . . . . . . chr12 115123635 115123908 TBX3 F chr12_115122009_115122312_11101_3 1 . -1 -1 . -1 . . . . . . . chr12 115124772 115125182 TBX3 F chr12_115122009_115122312_11101_3 1 . -1 -1 . -1 . . . . . . . chr12 117354463 117354748 MED13L S chr12_116714222_116714398_10000_2 1 . -1 -1 . -1 . . . . . . . chr12 118815829 118815921 SUDS3 S chr12_119152469_119152622_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 120877749 120877800 MLEC S chr12_121130279_121130572_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 121382623 121382919 RHOF S chr12_122232901_122233030_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 121569260 121569366 P2RX7 F chr12_121569932_121570134_10000_3:chr12_121570526_121571131_10000_2 2 . -1 -1 . -1 . . . . . . . chr12 121837401 121839094 RNF34 F chr12_121838573_121838942_11100_1 1 . -1 -1 . -1 . . . . . . . chr12 121837401 121839489 RNF34 F chr12_121838854_121838942_11100_1 1 . -1 -1 . -1 . . . . . . . chr12 121838748 121839039 RNF34 F chr12_121837637_121837961_11000_1:chr12_121838573_121838942_11100_1 2 . -1 -1 . -1 . . . . . . . chr12 121839154 121839422 RNF34 F chr12_121837637_121837961_11000_1:chr12_121838573_121838942_11100_1 2 . -1 -1 . -1 . . . . . . . chr12 121927669 121929200 PSMD9 S chr12_122326348_122326718_11100_3 1 . -1 -1 . -1 . . . . . . . chr12 122067749 122067897 ORAI1 F chr12_122064017_122064364_11101_1 1 . -1 -1 . -1 . . . . . . . chr12 122207628 122208600 PSMD9 S chr12_122326348_122326718_11100_3 1 . -1 -1 . -1 . . . . . . . chr12 122230561 122233732 RHOF S chr12_121382868_121382919_10000_1:chr12_122611315_122611414_10000_3 2 . -1 -1 . -1 . . . . . . . chr12 122326308 122327188 PSMD9 S chr12_122207967_122208087_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 122459360 122462487 BCL7A F chr12_122461887_122461915_11101_4:chr12_122462212_122462417_10100_1 2 . -1 -1 . -1 . . . . . . . chr12 122459360 122462797 BCL7A F chr12_122462212_122462417_10100_1 1 . -1 -1 . -1 . . . . . . . chr12 122462187 122462386 BCL7A F chr12_122459772_122459923_10100_1:chr12_122461201_122461915_11101_4:chr12_122462212_122462417_10100_1 3 . -1 -1 . -1 . . . . . . . chr12 122462417 122462775 BCL7A F chr12_122459772_122459923_10100_1:chr12_122461201_122461915_11101_4:chr12_122462212_122462417_10100_1 3 . -1 -1 . -1 . . . . . . . chr12 122516151 122517907 MLXIP F chr12_122517547_122517678_11100_1 1 . -1 -1 . -1 . . . . . . . chr12 122516151 122518709 MLXIP F chr12_122518449_122518559_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 122517490 122517922 MLXIP F chr12_122516501_122516611_10100_1:chr12_122516966_122517162_11100_1:chr12_122517547_122517678_11100_1 3 . -1 -1 . -1 . . . . . . . chr12 122518432 122518585 MLXIP F chr12_122516501_122516611_10100_1:chr12_122516966_122517162_11100_1:chr12_122517547_122517678_11100_1:chr12_122518449_122518559_10000_1 4 . -1 -1 . -1 . . . . . . . chr12 122519763 122520228 MLXIP F chr12_122516501_122516611_10100_1:chr12_122516966_122517162_11100_1:chr12_122517547_122517678_11100_1:chr12_122518449_122518559_10000_1 4 . -1 -1 . -1 . . . . . . . chr12 122611315 122611414 RHOF S chr12_122232901_122233030_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 122884072 122884364 CLIP1 S chr12_123547341_123547674_11100_2 1 . -1 -1 . -1 . . . . . . . chr12 123380211 123383477 VPS37B F chr12_123383455_123383673_11000_1 1 . -1 -1 . -1 . . . . . . . chr12 123383124 123383428 VPS37B F chr12_123383455_123383477_11000_1 1 . -1 -1 . -1 . . . . . . . chr12 123547253 123548392 ENSG00000256092 S chr12_123849738_123849946_11101_1:chr12_123850330_123850456_10001_1 2 . -1 -1 . -1 . . . . . . . chr12 123849122 123850562 ENSG00000256092 S chr12_123547341_123547674_11100_2 1 . -1 -1 . -1 . . . . . . . chr12 123916939 123917399 RILPL2 F chr12_123920233_123920396_11000_1:chr12_123921027_123921207_11100_2 2 . -1 -1 . -1 . . . . . . . chr12 123917456 123917702 RILPL2 F chr12_123920233_123920396_11000_1:chr12_123921027_123921207_11100_2 2 . -1 -1 . -1 . . . . . . . chr12 123919438 123919802 RILPL2 F chr12_123920233_123920396_11000_1:chr12_123921027_123921207_11100_2 2 . -1 -1 . -1 . . . . . . . chr12 125399086 125401249 UBC F chr12_125400949_125401199_11101_2 1 . -1 -1 . -1 . . . . . . . chr12 125399086 125403950 UBC F chr12_125403626_125403885_10000_2 1 . -1 -1 . -1 . . . . . . . chr12 125400956 125401141 UBC F chr12_125399435_125399583_11101_1:chr12_125400949_125401199_11101_2 2 . -1 -1 . -1 . . . . . . . chr12 125403508 125403991 UBC F chr12_125399435_125399583_11101_1:chr12_125400949_125401199_11101_2:chr12_125401640_125402053_11101_2:chr12_125403626_125403885_10000_2 4 . -1 -1 . -1 . . . . . . . chr12 129305431 129305689 SLC15A4 F chr12_129308503_129308669_10101_1 1 . -1 -1 . -1 . . . . . . . chr12 129306542 129307039 SLC15A4 F chr12_129308503_129308669_10101_1 1 . -1 -1 . -1 . . . . . . . chr12 129340998 129341268 GLT1D1 F chr12_129339013_129339153_10100_1 1 . -1 -1 . -1 . . . . . . . chr12 129341873 129342419 GLT1D1 F chr12_129339013_129339153_10100_1 1 . -1 -1 . -1 . . . . . . . chr12 132903795 132904258 GALNT9 F chr12_132903936_132904137_10000_1 1 . -1 -1 . -1 . . . . . . . chr12 132903826 132906405 GALNT9 F chr12_132903936_132904137_10000_1 1 . -1 -1 . -1 . . . . . . . chr13 21596926 21597600 LATS2 S chr13_21634450_21634645_11101_1:chr13_21635613_21635838_10101_2 2 . -1 -1 . -1 . . . . . . . chr13 27748930 27749219 USP12 F chr13_27746072_27746190_10000_1 1 . -1 -1 . -1 . . . . . . . chr13 28000089 28000288 GTF3A S chr13_28400618_28400704_10100_1 1 . -1 -1 . -1 . . . . . . . chr13 29291126 29291443 SLC46A3 F chr13_29292442_29293198_10000_2 1 . -1 -1 . -1 . . . . . . . chr13 37493342 37494909 SMAD9 F chr13_37493574_37493712_10000_1 1 . -1 -1 . -1 . . . . . . . chr13 37493371 37493714 SMAD9 F chr13_37493574_37493712_10000_1 1 . -1 -1 . -1 . . . . . . . chr13 41591294 41591779 ELF1 F chr13_41591959_41592117_10000_1:chr13_41593823_41593924_10000_1 2 . -1 -1 . -1 . . . . . . . chr13 41591336 41594008 ELF1 F chr13_41591959_41592079_10000_1 1 . -1 -1 . -1 . . . . . . . chr13 42849254 42849451 AKAP11 F chr13_42845805_42845915_11000_1 1 . -1 -1 . -1 . . . . . . . chr13 46676671 46676746 CPB2 F chr13_46677198_46677321_11001_1:chr13_46679052_46679384_11101_4 2 . -1 -1 . -1 . . . . . . . chr13 46962246 46962519 C13orf18 F chr13_46961736_46961861_10000_1 1 . -1 -1 . -1 . . . . . . . chr13 47126795 47128959 LRCH1 F chr13_47128711_47128881_10100_1 1 . -1 -1 . -1 . . . . . . . chr13 47128564 47128952 LRCH1 F chr13_47128711_47128881_10100_1 1 . -1 -1 . -1 . . . . . . . chr13 49105819 49106173 RCBTB2 F chr13_49106828_49106951_11001_1 1 . -1 -1 . -1 . . . . . . . chr13 50365923 50367481 KPNA3 S chr13_50819090_50819415_10001_2 1 . -1 -1 . -1 . . . . . . . chr13 50655186 50657238 DLEU1 S chr13_50819090_50819415_10001_2 1 . -1 -1 . -1 . . . . . . . chr13 50818600 50820041 DLEU1 S chr13_50656125_50656379_11010_3:chr13_50656980_50657238_11010_4 2 . -1 -1 . -1 . . . . . . . chr13 50818600 50820041 KPNA3 S chr13_50366772_50367243_11000_1 1 . -1 -1 . -1 . . . . . . . chr13 52375939 52378734 DHRS12 F chr13_52376062_52376219_11000_1 1 . -1 -1 . -1 . . . . . . . chr13 52375939 52378793 DHRS12 F chr13_52376062_52376219_11000_1 1 . -1 -1 . -1 . . . . . . . chr13 52376068 52376210 DHRS12 F chr13_52376062_52376219_11000_1:chr13_52376062_52376219_11000_1:chr13_52377628_52377933_11000_1:chr13_52377628_52377933_11000_1:chr13_52378249_52378489_11000_1:chr13_52378249_52378489_11000_1 6 . -1 -1 . -1 . . . . . . . chr13 52572000 52573000 ATP7B S chr13_52585486_52585612_10101_1:chr13_52586055_52586335_11110_2 2 . -1 -1 . -1 . . . . . . . chr13 52585247 52586789 ATP7B S chr13_52572291_52572408_11100_1:chr13_52572860_52573000_11000_1 2 chr13 52585419 52585420 CS094248 - 2 DM rs369488210 ATP7B Wilson disease ACAGCCAGAGAAGGGGCCAGTCGGAAAgtg[A/T]gttttgttcccccgcgtccgcgcagcgtgc 19371217 chr13 52585247 52586789 ATP7B S chr13_52572291_52572408_11100_1:chr13_52572860_52573000_11000_1 2 chr13 52585431 52585432 CM129452 - 1 DM? NULL ATP7B Wilson disease GAGAGACAGATCACAGCCAGAGAAGGGGCC[A/G]GTCGGAAAgtgagttttgttcccccgcgtc NO ID chr13 52585247 52586789 ATP7B S chr13_52572291_52572408_11100_1:chr13_52572860_52573000_11000_1 2 chr13 52585454 52585455 CD054306 - 5 DM NULL ATP7B Wilson disease CCGTGCGGGACGATGCCTGAGCAGGAGAGA[CA/-]GATCACAGCCAGAGAAGGGGCCAGTCGGAA 15967699 chr13 52585247 52586789 ATP7B S chr13_52572291_52572408_11100_1:chr13_52572860_52573000_11000_1 2 chr13 52585509 52585510 CR016283 - 3 DM? NULL ATP7B Wilson disease TCCACCGACCAGGTGACCTTTTGCTCTGAG[C/T]CAGATCAGAGAAGAATTCGGTGTCCGTGCG 11405812 chr13 52585247 52586789 ATP7B S chr13_52572291_52572408_11100_1:chr13_52572860_52573000_11000_1 2 chr13 52585522 52585523 CR129462 - 3 DM? NULL ATP7B Wilson disease CACCCCGCTCTCCTCCACCGACCAGGTGAC[C/G]TTTTGCTCTGAGCCAGATCAGAGAAGAATT NO ID chr13 52585247 52586789 ATP7B S chr13_52572291_52572408_11100_1:chr13_52572860_52573000_11000_1 2 chr13 52585548 52585549 CR129463 - 3 DM? rs2277448 ATP7B Wilson disease CTGCGCCTCCTCTCCCGGGACTTTAACACC[C/A]CGCTCTCCTCCACCGACCAGGTGACCTTTT NO ID chr13 52585247 52586789 ATP7B S chr13_52572291_52572408_11100_1:chr13_52572860_52573000_11000_1 2 chr13 52585551 52585552 CR971937 - 3 DM NULL ATP7B Wilson disease ACTCTGCGCCTCCTCTCCCGGGACTTTAAC[A/C]CCCCGCTCTCCTCCACCGACCAGGTGACCT 9199563 chr13 52585247 52586789 ATP7B S chr13_52572291_52572408_11100_1:chr13_52572860_52573000_11000_1 2 chr13 52585596 52585597 CR971939 - 3 DM NULL ATP7B Wilson disease CGGACCCCTGTTTGCTTTAGAGCCGAGCCG[C/A]GCCGATGCCCTCACACTCTGCGCCTCCTCT 9199563 chr13 52585247 52586789 ATP7B S chr13_52572291_52572408_11100_1:chr13_52572860_52573000_11000_1 2 chr13 52585601 52585602 CR129464 - 3 DM? rs73184332 ATP7B Wilson disease GTTCCCGGACCCCTGTTTGCTTTAGAGCCG[A/C]GCCGCGCCGATGCCCTCACACTCTGCGCCT NO ID chr13 52585247 52586789 ATP7B S chr13_52572291_52572408_11100_1:chr13_52572860_52573000_11000_1 2 chr13 52585606 52585607 CR107556 - 3 DM NULL ATP7B Wilson disease GGGCGGTTCCCGGACCCCTGTTTGCTTTAG[A/C]GCCGAGCCGCGCCGATGCCCTCACACTCTG 20931554 chr13 52585247 52586789 ATP7B S chr13_52572291_52572408_11100_1:chr13_52572860_52573000_11000_1 2 chr13 52585683 52585684 CR107554 - 3 DM NULL ATP7B Wilson disease AGGTCGGGAGGACGGCGGCGCGCAACTTTG[A/T]ATCATCCGTGTGAAGAGGGCTGCGGCTTCC 20931554 chr13 52585247 52586789 ATP7B S chr13_52572291_52572408_11100_1:chr13_52572860_52573000_11000_1 2 chr13 52585861 52585862 CR139982 - 3 DM? NULL ATP7B Wilson disease AGGACAGGCCTCCGCCCTGCGGCGCCGGCA[C/T]GGCAGAGGACATTGTGGCACTGGCACGGCA 24094725 chr13 52585247 52586789 ATP7B S chr13_52572291_52572408_11100_1:chr13_52572860_52573000_11000_1 2 chr13 52585881 52585882 CR139979 - 3 FP rs28362532 ATP7B Decreased expression GGTGGCCGAGACCGCGGAGGAGGACAGGCC[T/C]CCGCCCTGCGGCGCCGGCACGGCAGAGGAC 24094725 chr13 52585247 52586789 ATP7B S chr13_52572291_52572408_11100_1:chr13_52572860_52573000_11000_1 2 chr13 52585915 52585916 CR133405 - 3 DM NULL ATP7B Wilson disease GATCCCAGTACAGTGTCGGAGCGCACCAGC[G/A]CGAGGTGGCCGAGACCGCGGAGGAGGACAG 23518715 chr13 52585247 52586789 ATP7B S chr13_52572291_52572408_11100_1:chr13_52572860_52573000_11000_1 2 chr13 52585933 52585934 CR139981 - 3 DM? NULL ATP7B Wilson disease GCTCCCGCACACGCGTGAGATCCCAGTACA[G/A]TGTCGGAGCGCACCAGCGCGAGGTGGCCGA 24094725 chr13 52585247 52586789 ATP7B S chr13_52572291_52572408_11100_1:chr13_52572860_52573000_11000_1 2 chr13 52586149 52586150 CR139980 - 3 DM? NULL ATP7B Wilson disease GCGCACAGCGGATCGATTTTCCAGGTGCGG[A/G]GTTCACTCTTGCCGCGGTTGCTTCCTTTGG 24094725 chr13 52585247 52586789 ATP7B S chr13_52572291_52572408_11100_1:chr13_52572860_52573000_11000_1 2 chr13 52586752 52586753 CR139978 - 3 FP rs111871296 ATP7B Decreased expression ACCTAGTCTATTCCAGTCTATATAGAAGAC[C/T]CCCAAGAAAAAGAAAGACTGCTCATTGGCC 24094725 chr13 74706134 74706569 KLF12 F chr13_74706456_74706608_11101_1:chr13_74708515_74708566_10100_1 2 . -1 -1 . -1 . . . . . . . chr13 74706151 74708566 KLF12 F chr13_74706456_74706608_11101_1 1 . -1 -1 . -1 . . . . . . . chr13 74707565 74709316 KLF12 F chr13_74708597_74708663_10100_1:chr13_74708969_74709172_10001_1:chr13_74709518_74709634_11101_1 3 . -1 -1 . -1 . . . . . . . chr13 74707565 74709961 KLF12 F chr13_74709518_74709727_11101_1 1 . -1 -1 . -1 . . . . . . . chr13 74708897 74709334 KLF12 F chr13_74708515_74708663_10100_1:chr13_74708969_74709172_10001_1 2 . -1 -1 . -1 . . . . . . . chr13 74709487 74710034 KLF12 F chr13_74708515_74708663_10100_1:chr13_74708969_74709172_10001_1:chr13_74709518_74709727_11101_1 3 . -1 -1 . -1 . . . . . . . chr13 76334296 76337094 LMO7 F chr13_76336454_76336972_11110_3 1 . -1 -1 . -1 . . . . . . . chr13 76336754 76337033 LMO7 F chr13_76334689_76334951_11111_2:chr13_76336337_76336972_11110_3 2 . -1 -1 . -1 . . . . . . . chr13 77899332 77899971 MYCBP2 F chr13_77900107_77900304_11010_1:chr13_77901176_77901484_11010_1 2 . -1 -1 . -1 . . . . . . . chr13 77899451 77901677 MYCBP2 F chr13_77900107_77900271_11010_1 1 . -1 -1 . -1 . . . . . . . chr13 97872271 97875074 MBNL2 F chr13_97872932_97872939_11000_1 1 . -1 -1 . -1 . . . . . . . chr13 97872304 97872639 MBNL2 F chr13_97872932_97873067_11000_1:chr13_97874409_97874660_11111_1 2 . -1 -1 . -1 . . . . . . . chr13 98627937 98629154 IPO5 S chr13_99221800_99222156_10000_3 1 . -1 -1 . -1 . . . . . . . chr13 98794400 98795885 FARP1 S chr13_99221800_99222156_10000_3 1 . -1 -1 . -1 . . . . . . . chr13 98796133 98796236 FARP1 S chr13_99221800_99222156_10000_3 1 . -1 -1 . -1 . . . . . . . chr13 98796568 98796724 FARP1 S chr13_99221800_99222156_10000_3 1 . -1 -1 . -1 . . . . . . . chr13 98797216 98797556 FARP1 S chr13_99221800_99222156_10000_3 1 . -1 -1 . -1 . . . . . . . chr13 99158758 99159421 ENSG00000250780 S chr13_99221800_99222156_10000_3 1 . -1 -1 . -1 . . . . . . . chr13 99221800 99222334 ENSG00000250780 S chr13_99158758_99159378_10101_2 1 . -1 -1 . -1 . . . . . . . chr13 99221800 99222334 FARP1 S chr13_98797216_98797474_10010_4 1 . -1 -1 . -1 . . . . . . . chr13 99221800 99222334 IPO5 S chr13_98628429_98628718_00000_1 1 . -1 -1 . -1 . . . . . . . chr13 99221800 99222334 UBAC2 S chr13_99852929_99853143_11011_1 1 . -1 -1 . -1 . . . . . . . chr13 99228330 99229027 STK24 S chr13_99221800_99222156_10000_3 1 . -1 -1 . -1 . . . . . . . chr13 99403498 99405429 SLC15A1 F chr13_99403744_99403967_10010_1 1 . -1 -1 . -1 . . . . . . . chr13 99403586 99403810 SLC15A1 F chr13_99403744_99403967_10010_1:chr13_99404855_99404981_10010_1 2 . -1 -1 . -1 . . . . . . . chr13 99852371 99854178 UBAC2 S chr13_99221800_99222156_10000_3 1 . -1 -1 . -1 . . . . . . . chr13 103051676 103052522 FGF14 F chr13_103052311_103052480_10000_1:chr13_103053195_103053456_10000_1:chr13_103054466_103054620_10000_1 3 . -1 -1 . -1 . . . . . . . chr13 103051899 103054624 FGF14 F chr13_103052311_103052480_10000_1 1 . -1 -1 . -1 . . . . . . . chr13 103248785 103250357 TPP2 F chr13_103250177_103250320_11000_1 1 . -1 -1 . -1 . . . . . . . chr13 103249969 103250343 TPP2 F chr13_103249134_103249365_11000_3:chr13_103250177_103250320_11000_1 2 . -1 -1 . -1 . . . . . . . chr13 108918601 108918948 TNFSF13B F chr13_108921909_108922155_11010_1 1 . -1 -1 . -1 . . . . . . . chr13 108919755 108919960 TNFSF13B F chr13_108921909_108922155_11010_1 1 . -1 -1 . -1 . . . . . . . chr13 110439676 110440079 IRS2 F chr13_110438887_110439060_10000_1 1 . -1 -1 . -1 . . . . . . . chr13 110441173 110441468 IRS2 F chr13_110438887_110439060_10000_1:chr13_110440702_110440818_11100_1 2 . -1 -1 . -1 . . . . . . . chr13 111211890 111214571 RAB20 F chr13_111211822_111211961_10000_2 1 . -1 -1 . -1 . . . . . . . chr13 111212014 111212166 RAB20 F chr13_111211890_111211961_10000_2:chr13_111213376_111213522_10000_1:chr13_111214160_111214512_10000_3 3 . -1 -1 . -1 . . . . . . . chr13 111212895 111214571 RAB20 F chr13_111213376_111213522_10000_1 1 . -1 -1 . -1 . . . . . . . chr13 111212967 111213224 RAB20 F chr13_111213376_111213522_10000_1:chr13_111214160_111214512_10000_3 2 . -1 -1 . -1 . . . . . . . chr13 111564894 111565358 ANKRD10 F chr13_111565671_111565895_10000_1:chr13_111567432_111567916_10000_1 2 . -1 -1 . -1 . . . . . . . chr13 111568618 111569036 ANKRD10 F chr13_111567432_111568001_10000_1 1 . -1 -1 . -1 . . . . . . . chr13 113366200 113366594 F10 S chr13_113777065_113777505_11111_2 1 . -1 -1 . -1 . . . . . . . chr13 113369400 113369661 F10 S chr13_113777065_113777505_11111_2 1 . -1 -1 . -1 . . . . . . . chr14 21131018 21131254 ZNF219 S chr14_21571738_21571865_11101_1:chr14_21571783_21572606_11111_1 2 . -1 -1 . -1 . . . . . . . chr14 23057600 23059025 DAD1 S chr14_23372286_23372985_11000_3 1 . -1 -1 . -1 . . . . . . . chr14 23307440 23308274 MMP14 F chr14_23306241_23306385_11000_1 1 . -1 -1 . -1 . . . . . . . chr14 23340244 23342091 LRP10 S chr14_23372286_23372985_11000_3 1 . -1 -1 . -1 . . . . . . . chr14 23372123 23373472 LRP10 S chr14_23340367_23341095_11010_4 1 . -1 -1 . -1 . . . . . . . chr14 23445931 23450195 JUB F chr14_23449500_23449658_10010_1 1 . -1 -1 . -1 . . . . . . . chr14 23449033 23452348 JUB F chr14_23449500_23449615_10010_1 1 . -1 -1 . -1 . . . . . . . chr14 23449151 23449315 JUB F chr14_23449500_23449658_10010_1:chr14_23451806_23451927_10111_1 2 . -1 -1 . -1 . . . . . . . chr14 23449757 23450231 JUB F chr14_23445931_23446164_11000_3:chr14_23446989_23447165_11111_1:chr14_23447734_23447922_10000_1:chr14_23449500_23449658_10010_1:chr14_23451806_23451927_10111_1 5 . -1 -1 . -1 . . . . . . . chr14 23449794 23452348 JUB F chr14_23449500_23449658_10010_1 1 . -1 -1 . -1 . . . . . . . chr14 23764189 23764318 BCL2L2 S chr14_23372286_23372985_11000_3:chr14_24578104_24578397_11111_1 2 . -1 -1 . -1 . . . . . . . chr14 23764423 23764751 BCL2L2 S chr14_23372286_23372985_11000_3:chr14_24578104_24578397_11111_1 2 . -1 -1 . -1 . . . . . . . chr14 23768896 23769200 7523 S chr14_23398707_23399073_10111_2 1 . -1 -1 . -1 . . . . . . . chr14 23768896 23769200 DCAF11 S chr14_24582756_24582771_11000_1:chr14_24583060_24583457_11111_3:chr14_24583750_24584583_11111_4 3 . -1 -1 . -1 . . . . . . . chr14 23768896 23769200 PSMB5 S chr14_23504118_23504518_11111_2 1 . -1 -1 . -1 . . . . . . . chr14 23768896 23769200 RNF31 S chr14_24630400_24630522_11111_1 1 . -1 -1 . -1 . . . . . . . chr14 23768896 23769200 TINF2 S chr14_24712603_24712775_11001_1 1 . -1 -1 . -1 . . . . . . . chr14 23768896 23769200 TM9SF1 S chr14_24658025_24658221_10100_2 1 . -1 -1 . -1 . . . . . . . chr14 24026909 24027000 SDR39U1 S chr14_24911938_24912215_11111_3 1 . -1 -1 . -1 . . . . . . . chr14 24070821 24072481 RNF31 S chr14_24630400_24630522_11111_1 1 . -1 -1 . -1 . . . . . . . chr14 24070821 24072481 TINF2 S chr14_24712603_24712775_11001_1 1 . -1 -1 . -1 . . . . . . . chr14 24199420 24199539 ENSG00000258464 S chr14_23372286_23372985_11000_3 1 . -1 -1 . -1 . . . . . . . chr14 24503410 24503826 RNF31 S chr14_24630400_24630522_11111_1 1 . -1 -1 . -1 . . . . . . . chr14 24503977 24504464 RNF31 S chr14_24630400_24630522_11111_1 1 . -1 -1 . -1 . . . . . . . chr14 24505408 24506202 ENSG00000225766 S chr14_24578104_24578397_11111_1 1 . -1 -1 . -1 . . . . . . . chr14 24506202 24506611 DCAF11 S chr14_24582756_24582771_11000_1:chr14_24583060_24583457_11111_3:chr14_24583750_24584583_11111_4 3 . -1 -1 . -1 . . . . . . . chr14 24506202 24506611 RNF31 S chr14_24630400_24630522_11111_1 1 . -1 -1 . -1 . . . . . . . chr14 24506202 24506611 TINF2 S chr14_24712603_24712775_11001_1 1 . -1 -1 . -1 . . . . . . . chr14 24577800 24578518 ENSG00000225766 S chr14_24505548_24506202_11000_3 1 . -1 -1 . -1 . . . . . . . chr14 24577800 24578518 RNF31 S chr14_24630400_24630522_11111_1 1 . -1 -1 . -1 . . . . . . . chr14 24577800 24578518 TINF2 S chr14_24712603_24712775_11001_1 1 . -1 -1 . -1 . . . . . . . chr14 24582756 24584600 DCAF11 S chr14_24506202_24506241_11000_3 1 . -1 -1 . -1 . . . . . . . chr14 24630400 24630995 RNF31 S chr14_24506202_24506241_11000_3:chr14_24578104_24578397_11111_1 2 . -1 -1 . -1 . . . . . . . chr14 24710907 24712881 TINF2 S chr14_24506202_24506241_11000_3:chr14_24578104_24578397_11111_1 2 . -1 -1 . -1 . . . . . . . chr14 24711379 24712922 TINF2 F chr14_24712603_24712775_11001_1 1 . -1 -1 . -1 . . . . . . . chr14 24712544 24712898 TINF2 F chr14_24712603_24712775_11001_1 1 . -1 -1 . -1 . . . . . . . chr14 24721212 24722400 DCAF11 S chr14_24582756_24582771_11000_1:chr14_24583060_24583457_11111_3:chr14_24583750_24584583_11111_4 3 . -1 -1 . -1 . . . . . . . chr14 24721212 24722400 PSME1 S chr14_24605102_24605351_10100_1 1 . -1 -1 . -1 . . . . . . . chr14 24721212 24722400 RNF31 S chr14_24630400_24630522_11111_1 1 . -1 -1 . -1 . . . . . . . chr14 24721212 24722400 TINF2 S chr14_24712603_24712775_11001_1 1 . -1 -1 . -1 . . . . . . . chr14 24721212 24722400 TM9SF1 S chr14_24658025_24658221_10100_2 1 . -1 -1 . -1 . . . . . . . chr14 24775268 24776400 DCAF11 S chr14_24582756_24582771_11000_1:chr14_24583060_24583457_11111_3:chr14_24583750_24584583_11111_4 3 . -1 -1 . -1 . . . . . . . chr14 24775268 24776400 PABPN1 S chr14_23790091_23790621_11111_2 1 . -1 -1 . -1 . . . . . . . chr14 24775268 24776400 PSME1 S chr14_24605102_24605351_10100_1 1 . -1 -1 . -1 . . . . . . . chr14 24775268 24776400 RNF31 S chr14_24630400_24630522_11111_1 1 . -1 -1 . -1 . . . . . . . chr14 24775268 24776400 SDR39U1 S chr14_24911938_24912215_11111_3 1 . -1 -1 . -1 . . . . . . . chr14 24775268 24776400 TINF2 S chr14_24712603_24712775_11001_1 1 . -1 -1 . -1 . . . . . . . chr14 24775268 24776400 TM9SF1 S chr14_24658025_24658221_10100_2 1 . -1 -1 . -1 . . . . . . . chr14 25147658 25148209 RNF31 S chr14_24630400_24630522_11111_1 1 . -1 -1 . -1 . . . . . . . chr14 25147658 25148209 TINF2 S chr14_24712603_24712775_11001_1 1 . -1 -1 . -1 . . . . . . . chr14 25275400 25275518 RNF31 S chr14_24630400_24630522_11111_1 1 . -1 -1 . -1 . . . . . . . chr14 25275400 25275518 TINF2 S chr14_24712603_24712775_11001_1 1 . -1 -1 . -1 . . . . . . . chr14 31027833 31029282 G2E3 S chr14_31698889_31699360_11111_4 1 . -1 -1 . -1 . . . . . . . chr14 31675801 31678084 HECTD1 S chr14_31698889_31699360_11111_4 1 . -1 -1 . -1 . . . . . . . chr14 31697672 31699766 ENSG00000199291 S chr14_31727096_31727607_11000_3 1 . -1 -1 . -1 . . . . . . . chr14 31697672 31699766 G2E3 S chr14_31028174_31028352_11100_1 1 . -1 -1 . -1 . . . . . . . chr14 31697672 31699766 HEATR5A S chr14_31889237_31889460_11010_1:chr14_31889761_31889990_11111_2 2 . -1 -1 . -1 . . . . . . . chr14 31727000 31728200 ENSG00000199291 S chr14_31698889_31699360_11111_4:chr14_31731166_31731539_11000_3 2 . -1 -1 . -1 . . . . . . . chr14 31730587 31732337 ENSG00000199291 S chr14_31727096_31727607_11000_3 1 . -1 -1 . -1 . . . . . . . chr14 31888828 31890455 HEATR5A S chr14_31698889_31699360_11111_4 1 . -1 -1 . -1 . . . . . . . chr14 32404149 32405059 ENSG00000199291 S chr14_31727096_31727607_11000_3 1 . -1 -1 . -1 . . . . . . . chr14 35869889 35874460 NFKBIA F chr14_35870054_35870240_11000_1 1 chr14 35871093 35871094 CR115062 - 3 DFP rs696 NFKBIA Colorectal cancer: increased risk: association with GTGTACTTATATCCACACTGCACACTGCCT[A/G]GCCCAAAACGTCTTATTGTGGTAGGATCAG 21738780 chr14 35869889 35874460 NFKBIA F chr14_35870054_35870240_11000_1 1 chr14 35872466 35872467 CM056013 - 1 DM NULL NFKBIA Hodgkin lymphoma ATCCTGAGCTCCGAGACTTTCGAGGAAATA[C/T]CCCCCTACACCTTGCCTGTGAGCAGGGCTG 15858823 chr14 35869889 35874460 NFKBIA F chr14_35870054_35870240_11000_1 1 chr14 35873741 35873742 CM1313678 - 1 DM NULL NFKBIA Ectodermal dysplasia: anhidrotic with immune deficiency ACGACCGCCACGACAGCGGCCTGGACTCCA[T/G]GAAAGACGAGGAGTACGAGCAGATGGTCAA 23870671 chr14 35869889 35874460 NFKBIA F chr14_35870054_35870240_11000_1 1 chr14 35873741 35873742 CM134758 - 1 DM NULL NFKBIA Ectodermal dysplasia: with immunodeficiency ACGACCGCCACGACAGCGGCCTGGACTCCA[T/A]GAAAGACGAGGAGTACGAGCAGATGGTCAA 23708964 chr14 35869889 35874460 NFKBIA F chr14_35870054_35870240_11000_1 1 chr14 35873744 35873745 CM137578 - 1 DM NULL NFKBIA Ectodermal dysplasia: anhidrotic with immune deficiency TGGACGACCGCCACGACAGCGGCCTGGACT[C/A]CATGAAAGACGAGGAGTACGAGCAGATGGT 23864385 chr14 35869889 35874460 NFKBIA F chr14_35870054_35870240_11000_1 1 chr14 35873756 35873757 CM033654 - 1 DM rs28933100 NFKBIA Ectodermal dysplasia: anhidrotic with immune deficiency AGGAGCGGCTACTGGACGACCGCCACGACA[G/T]CGGCCTGGACTCCATGAAAGACGAGGAGTA 14523047 chr14 35869889 35874460 NFKBIA F chr14_35870054_35870240_11000_1 1 chr14 35873811 35873812 CM082966 - 1 DM rs121913665 NFKBIA Ectodermal dysplasia: anhidrotic with immune deficiency GCGGCCGAGCGCCCCCAGGAGTGGGCCATG[G/T]AGGGCCCCCGCGACGGGCTGAAGAAGGAGC 18412279 chr14 35869889 35874460 NFKBIA F chr14_35870054_35870240_11000_1 1 chr14 35873819 35873820 CM076351 - 1 DM rs121913664 NFKBIA Ectodermal dysplasia: anhidrotic with immune deficiency TGTTCCAGGCGGCCGAGCGCCCCCAGGAGT[G/A]GGCCATGGAGGGCCCCCGCGACGGGCTGAA 17931563 chr14 35869889 35874460 NFKBIA F chr14_35870054_35870240_11000_1 1 chr14 35873826 35873827 CM122767 - 1 DM NULL NFKBIA Ectodermal dysplasia: anhidrotic with immune deficiency cgcgccATGTTCCAGGCGGCCGAGCGCCCC[C/T]AGGAGTGGGCCATGGAGGGCCCCCGCGACG 22078572 chr14 35869889 35874460 NFKBIA F chr14_35870054_35870240_11000_1 1 chr14 35874270 35874271 CR136345 - 3 DFP rs2233409 NFKBIA Airway hyperresponsiveness after viral infection: association with TCGATCGTGGGAAACCCCAGGGAAAGAAGG[C/T]TCACTTGCAGAGGGACAGGATTACAGGGTG 23487427 chr14 35869907 35870271 NFKBIA F chr14_35870054_35870240_11000_1:chr14_35871540_35871757_11110_1:chr14_35872935_35873423_11111_2:chr14_35873977_35874413_11111_2 4 . -1 -1 . -1 . . . . . . . chr14 35875800 35875964 NFKBIA F chr14_35873977_35874413_11111_2 1 . -1 -1 . -1 . . . . . . . chr14 35876265 35876636 NFKBIA F chr14_35873977_35874413_11111_2 1 . -1 -1 . -1 . . . . . . . chr14 37641084 37642058 SLC25A21 S chr14_38015896_38016341_11111_2 1 . -1 -1 . -1 . . . . . . . chr14 38015520 38017053 FOXA1 S chr14_38064417_38064528_10101_1:chr14_38065319_38065554_11100_1 2 . -1 -1 . -1 . . . . . . . chr14 38063163 38065903 FOXA1 S chr14_38015896_38016341_11111_2:chr14_38343970_38344128_11100_1 2 . -1 -1 . -1 . . . . . . . chr14 38343419 38344393 FOXA1 S chr14_38064417_38064528_10101_1:chr14_38065319_38065554_11100_1 2 . -1 -1 . -1 . . . . . . . chr14 38372880 38372972 LINC00517 S chr14_38343970_38344128_11100_1 1 . -1 -1 . -1 . . . . . . . chr14 39566400 39566800 PNN S chr14_39643963_39644391_10000_2 1 . -1 -1 . -1 . . . . . . . chr14 39900071 39900466 FBXO33 F chr14_39901605_39902204_11110_3 1 . -1 -1 . -1 . . . . . . . chr14 45721298 45721397 MIS18BP1 F chr14_45722325_45723105_11000_2 1 . -1 -1 . -1 . . . . . . . chr14 50086848 50091206 RPL36AL F chr14_50090965_50091075_10100_1 1 chr14 50088697 50088698 CM1110310 + 1 DM NULL MGAT2 Congenital disorder of glycosylation 2a CTCCCAGACCAAACATCACTGGTGGTGGAA[G/C]CTGCATTTTGTGTGGGAAAGAGTGAAAATT 22105986 chr14 50086848 50091206 RPL36AL F chr14_50090965_50091075_10100_1 1 chr14 50088771 50088772 CM960960 + 1 DM rs104894447 MGAT2 Congenital disorder of glycosylation 2a CTGGCCTTATACTTTTCCTAGAAGAGGATC[A/G]CTACTTAGCCCCAGACTTTTACCATGTCTT 8808595 chr14 50086848 50091206 RPL36AL F chr14_50090965_50091075_10100_1 1 chr14 50088855 50088856 CM960961 + 1 DM rs104894446 MGAT2 Congenital disorder of glycosylation 2a AGCAAGAGTGCCCTGAATGTGATGTTCTCT[C/T]CCTGGGGACCTATAGTGCCAGTCGCAGTTT 8808595 chr14 50086848 50091206 RPL36AL F chr14_50090965_50091075_10100_1 1 chr14 50088938 50088939 CM004652 + 1 DM rs104894448 MGAT2 Congenital disorder of glycosylation 2a GATGTGAAAACTTGGAAATCCACAGAGCAC[A/G]ATATGGGTCTAGCCTTGACCCGGAATGCCT 11228641 chr14 50086848 50091206 RPL36AL F chr14_50090965_50091075_10100_1 1 chr14 50089003 50089004 CM004653 + 1 DM rs104894449 MGAT2 Congenital disorder of glycosylation 2a GAAGCTGATCGAGTGCACAGACACTTTCTG[T/A]ACTTATGATGATTATAACTGGGACTGGACT 11228641 chr14 50086988 50091206 MGAT2 F chr14_50090965_50091075_10100_1 1 chr14 50088697 50088698 CM1110310 + 1 DM NULL MGAT2 Congenital disorder of glycosylation 2a CTCCCAGACCAAACATCACTGGTGGTGGAA[G/C]CTGCATTTTGTGTGGGAAAGAGTGAAAATT 22105986 chr14 50086988 50091206 MGAT2 F chr14_50090965_50091075_10100_1 1 chr14 50088771 50088772 CM960960 + 1 DM rs104894447 MGAT2 Congenital disorder of glycosylation 2a CTGGCCTTATACTTTTCCTAGAAGAGGATC[A/G]CTACTTAGCCCCAGACTTTTACCATGTCTT 8808595 chr14 50086988 50091206 MGAT2 F chr14_50090965_50091075_10100_1 1 chr14 50088855 50088856 CM960961 + 1 DM rs104894446 MGAT2 Congenital disorder of glycosylation 2a AGCAAGAGTGCCCTGAATGTGATGTTCTCT[C/T]CCTGGGGACCTATAGTGCCAGTCGCAGTTT 8808595 chr14 50086988 50091206 MGAT2 F chr14_50090965_50091075_10100_1 1 chr14 50088938 50088939 CM004652 + 1 DM rs104894448 MGAT2 Congenital disorder of glycosylation 2a GATGTGAAAACTTGGAAATCCACAGAGCAC[A/G]ATATGGGTCTAGCCTTGACCCGGAATGCCT 11228641 chr14 50086988 50091206 MGAT2 F chr14_50090965_50091075_10100_1 1 chr14 50089003 50089004 CM004653 + 1 DM rs104894449 MGAT2 Congenital disorder of glycosylation 2a GAAGCTGATCGAGTGCACAGACACTTTCTG[T/A]ACTTATGATGATTATAACTGGGACTGGACT 11228641 chr14 50090977 50091033 MGAT2 F chr14_50090965_50091075_10100_1 1 . -1 -1 . -1 . . . . . . . chr14 50090977 50091033 RPL36AL F chr14_50090965_50091075_10100_1 1 . -1 -1 . -1 . . . . . . . chr14 50234286 50237488 KLHDC2 F chr14_50237142_50237310_11010_3 1 . -1 -1 . -1 . . . . . . . chr14 50237132 50237443 KLHDC2 F chr14_50234786_50234939_11101_1:chr14_50235547_50235864_11100_2:chr14_50237142_50237310_11010_3 3 . -1 -1 . -1 . . . . . . . chr14 50998531 50999894 MAP4K5 S chr14_50188590_50188600_10000_2 1 . -1 -1 . -1 . . . . . . . chr14 51410097 51411748 PYGL F chr14_51410160_51410447_11010_2 1 chr14 51411084 51411085 CM078417 - 1 DM rs113993972 PYGL Glycogen storage disease 6 AGCCCCTGACGGACCAGGAGAAGCGGCGGC[A/C]GATCAGCATCCGCGGCATCGTGGGCGTGGA 17705025 chr14 51410207 51410388 PYGL F chr14_51410160_51410447_11010_2:chr14_51410688_51410859_11000_1:chr14_51411142_51411370_11010_1:chr14_51411496_51411748_11000_2 4 . -1 -1 . -1 . . . . . . . chr14 53018800 53020942 TXNDC16 F chr14_53020698_53020863_11010_1 1 . -1 -1 . -1 . . . . . . . chr14 53019365 53020942 GPR137C F chr14_53020698_53020863_11010_1 1 . -1 -1 . -1 . . . . . . . chr14 53020677 53020806 GPR137C F chr14_53020698_53020863_11010_1 1 . -1 -1 . -1 . . . . . . . chr14 53020677 53020806 TXNDC16 F chr14_53020698_53020863_11010_1 1 . -1 -1 . -1 . . . . . . . chr14 53288505 53289179 ENSG00000225680 S chr14_54080276_54080835_10110_2 1 . -1 -1 . -1 . . . . . . . chr14 54080172 54081308 ENSG00000225680 S chr14_53288505_53288756_11010_4:chr14_54605431_54605738_11110_4 2 . -1 -1 . -1 . . . . . . . chr14 54605400 54606438 CNIH1 S chr14_54907459_54907671_11110_3:chr14_54908039_54908331_11100_4 2 . -1 -1 . -1 . . . . . . . chr14 54605400 54606438 ENSG00000225680 S chr14_54080276_54080835_10110_2 1 . -1 -1 . -1 . . . . . . . chr14 54605400 54606438 GCH1 S chr14_55368849_55369087_11000_2:chr14_55369740_55369885_11000_1 2 . -1 -1 . -1 . . . . . . . chr14 54642258 54642988 ENSG00000225680 S chr14_54080276_54080835_10110_2 1 . -1 -1 . -1 . . . . . . . chr14 54907459 54908341 CNIH1 S chr14_54605431_54605738_11110_4 1 . -1 -1 . -1 . . . . . . . chr14 55035984 55036343 SAMD4A F chr14_55034976_55035208_10110_1 1 . -1 -1 . -1 . . . . . . . chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369034 55369035 CS095079 - 2 DM NULL GCH1 Dystonia: dopa-responsive CAAGGGCTACCAGGAGACCATCTCAGgtca[G/C]tgcgcccgcgggctgctagagcgtgcgggc 19332422 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369037 55369038 CS081920 - 2 DM NULL GCH1 Dystonia: dopa-responsive CACCAAGGGCTACCAGGAGACCATCTCAGg[T/G]cagtgcgcccgcgggctgctagagcgtgcg 17898029 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369039 55369040 CM011349 - 1 DM NULL GCH1 Dystonia: dopa-responsive TTCACCAAGGGCTACCAGGAGACCATCTCA[G/A]gtcagtgcgcccgcgggctgctagagcgtg 9328244 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369040 55369041 CS983946 - 2 DM? NULL GCH1 Dystonia: dopa-responsive CTTCACCAAGGGCTACCAGGAGACCATCTC[A/T]Ggtcagtgcgcccgcgggctgctagagcgt 9778264 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369041 55369042 CM064007 - 1 DM NULL GCH1 Dystonia: dopa-responsive TCTTCACCAAGGGCTACCAGGAGACCATCT[C/G]AGgtcagtgcgcccgcgggctgctagagcg 16917893 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369041 55369042 CM960725 - 1 DM NULL GCH1 Dystonia: dopa-responsive TCTTCACCAAGGGCTACCAGGAGACCATCT[C/A]AGgtcagtgcgcccgcgggctgctagagcg 8619546 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369052 55369053 CI011682 - 6 DM NULL GCH1 Dystonia: dopa-responsive GGCCATGCAGTTCTTCACCAAGGGCTACCA[-/A]GGAGACCATCTCAGGTCAGTGCGCCCGCGG 9566388 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369053 55369062 CD093880 - 5 DM NULL GCH1 Dystonia: dopa-responsive GGGCGGCCTCGGCCATGCAGTTCTTCACCA[AGGGCTACCA/-]GGAGACCATCTCAGGTCAGTGCGCCCGCGG 19491146 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369054 55369055 CM970627 - 1 DM NULL GCH1 Hyperphenylalaninaemia TCGGCCATGCAGTTCTTCACCAAGGGCTAC[C/T]AGGAGACCATCTCAGgtcagtgcgcccgcg 9222755 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369059 55369060 CM011347 - 1 DM rs104894435 GCH1 Dystonia: dopa-responsive CGGCCTCGGCCATGCAGTTCTTCACCAAGG[G/A]CTACCAGGAGACCATCTCAGgtcagtgcgc 9667588 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369059 55369060 CM011348 - 1 DM NULL GCH1 Tetrahydrobiopterin deficiency CGGCCTCGGCCATGCAGTTCTTCACCAAGG[G/T]CTACCAGGAGACCATCTCAGgtcagtgcgc 16917893 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369060 55369061 CM081650 - 1 DM NULL GCH1 Dystonia: dopa-responsive GCGGCCTCGGCCATGCAGTTCTTCACCAAG[G/A]GCTACCAGGAGACCATCTCAGgtcagtgcg 17898029 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369065 55369066 CM055947 - 1 DM NULL GCH1 Dystonia: progressive GGAGGGCGGCCTCGGCCATGCAGTTCTTCA[C/T]CAAGGGCTACCAGGAGACCATCTCAGgtca 15852365 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369066 55369067 CI050929 - 6 DM NULL GCH1 Dystonia: dopa-responsive TGGAGGGCGGCCTCGGCCATGCAGTTCTTC[-/TTC]ACCAAGGGCTACCAGGAGACCATCTCAGGT 15753436 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369070 55369071 CM093866 - 1 DM NULL GCH1 Dystonia: dopa-responsive GCCCTGGAGGGCGGCCTCGGCCATGCAGTT[C/A]TTCACCAAGGGCTACCAGGAGACCATCTCA 19491146 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369073 55369074 CD982672 - 5 DM NULL GCH1 Dystonia: dopa-responsive GACGCCCTGGAGGGCGGCCTCGGCCATGCA[G/-]TTCTTCACCAAGGGCTACCAGGAGACCATC 9585358 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369073 55369074 CM127399 - 1 DM NULL GCH1 GTP-cyclohydrolase I deficiency GACGCCCTGGAGGGCGGCCTCGGCCATGCA[G/C]TTCTTCACCAAGGGCTACCAGGAGACCATC 22473768 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369074 55369075 CM050623 - 1 DM NULL GCH1 Dystonia: dopa-responsive AGACGCCCTGGAGGGCGGCCTCGGCCATGC[A/C]GTTCTTCACCAAGGGCTACCAGGAGACCAT 15753436 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369077 55369078 CM011345 - 1 DM NULL GCH1 Dystonia: dopa-responsive TCAAGACGCCCTGGAGGGCGGCCTCGGCCA[T/G]GCAGTTCTTCACCAAGGGCTACCAGGAGAC 10582612 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369077 55369078 CM011346 - 1 DM NULL GCH1 Dystonia: dopa-responsive TCAAGACGCCCTGGAGGGCGGCCTCGGCCA[T/A]GCAGTTCTTCACCAAGGGCTACCAGGAGAC 9626769 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369087 55369088 CM093865 - 1 DM NULL GCH1 Dystonia: dopa-responsive CAAGGGCTGCTCAAGACGCCCTGGAGGGCG[G/C]CCTCGGCCATGCAGTTCTTCACCAAGGGCT 19491146 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369089 55369090 CM095076 - 1 DM NULL GCH1 Dystonia: dopa-responsive GGCAAGGGCTGCTCAAGACGCCCTGGAGGG[C/T]GGCCTCGGCCATGCAGTTCTTCACCAAGGG 19332422 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369094 55369095 CM011344 - 1 DM NULL GCH1 Tetrahydrobiopterin deficiency CCAGCGGCAAGGGCTGCTCAAGACGCCCTG[G/A]AGGGCGGCCTCGGCCATGCAGTTCTTCACC 19491146 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369095 55369096 CM1110265 - 1 DM NULL GCH1 Dystonia: dopa-responsive CCCAGCGGCAAGGGCTGCTCAAGACGCCCT[G/A]GAGGGCGGCCTCGGCCATGCAGTTCTTCAC 21429827 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369098 55369099 CM085973 - 1 DM NULL GCH1 Dystonia: dopa-responsive ACCCCCAGCGGCAAGGGCTGCTCAAGACGC[C/T]CTGGAGGGCGGCCTCGGCCATGCAGTTCTT 18554280 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369098 55369099 CM139138 - 1 DM NULL GCH1 Dystonia: dopa-responsive ACCCCCAGCGGCAAGGGCTGCTCAAGACGC[C/G]CTGGAGGGCGGCCTCGGCCATGCAGTTCTT 24018121 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369098 55369115 CD065724 - 5 DM NULL GCH1 Dystonia: progressive GAGCTCGCTGGGCGAGAACCCCCAGCGGCA[AGGGCTGCTCAAGACGCC/-]CTGGAGGGCGGCCTCGGCCATGCAGTTCTT 15959854 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369101 55369102 CM011343 - 1 DM NULL GCH1 Dystonia: dopa-responsive AGAACCCCCAGCGGCAAGGGCTGCTCAAGA[C/A]GCCCTGGAGGGCGGCCTCGGCCATGCAGTT 10457396 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369101 55369102 CM135628 - 1 DM NULL GCH1 Dystonia: dopa-responsive AGAACCCCCAGCGGCAAGGGCTGCTCAAGA[C/T]GCCCTGGAGGGCGGCCTCGGCCATGCAGTT 23211702 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369106 55369107 CD043796 - 5 DM NULL GCH1 Dystonia GGGCGAGAACCCCCAGCGGCAAGGGCTGCT[C/-]AAGACGCCCTGGAGGGCGGCCTCGGCCATG 14509676 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369110 55369111 CM050622 - 1 DM NULL GCH1 Dystonia: dopa-responsive CGCTGGGCGAGAACCCCCAGCGGCAAGGGC[T/G]GCTCAAGACGCCCTGGAGGGCGGCCTCGGC 15753436 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369111 55369112 CM085974 - 1 DM NULL GCH1 Dystonia: dopa-responsive TCGCTGGGCGAGAACCCCCAGCGGCAAGGG[C/G]TGCTCAAGACGCCCTGGAGGGCGGCCTCGG 18554280 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369113 55369114 CM990684 - 1 DM NULL GCH1 Dystonia: dopa-responsive GCTCGCTGGGCGAGAACCCCCAGCGGCAAG[G/T]GCTGCTCAAGACGCCCTGGAGGGCGGCCTC 10076897 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369116 55369121 CD001899 - 5 DM NULL GCH1 Dystonia: dopa-responsive CATCCTGAGCTCGCTGGGCGAGAACCCCCA[GCGGCA/-]AGGGCTGCTCAAGACGCCCTGGAGGGCGGC 10825351 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369117 55369118 CM013264 - 1 DM NULL GCH1 Dystonia: dopa-responsive CTGAGCTCGCTGGGCGAGAACCCCCAGCGG[C/T]AAGGGCTGCTCAAGACGCCCTGGAGGGCGG 11295799 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369119 55369120 CM960724 - 1 DM NULL GCH1 Dystonia: dopa-responsive TCCTGAGCTCGCTGGGCGAGAACCCCCAGC[G/C]GCAAGGGCTGCTCAAGACGCCCTGGAGGGC 8852666 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369120 55369121 CM050621 - 1 DM NULL GCH1 Dystonia: dopa-responsive ATCCTGAGCTCGCTGGGCGAGAACCCCCAG[C/G]GGCAAGGGCTGCTCAAGACGCCCTGGAGGG 15753436 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369120 55369121 CM940820 - 1 DM rs104894433 GCH1 Dystonia: dopa-responsive ATCCTGAGCTCGCTGGGCGAGAACCCCCAG[C/T]GGCAAGGGCTGCTCAAGACGCCCTGGAGGG 7874165 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369122 55369123 CD095078 - 5 DM NULL GCH1 Dystonia: dopa-responsive CCATCCTGAGCTCGCTGGGCGAGAACCCCC[A/-]GCGGCAAGGGCTGCTCAAGACGCCCTGGAG 19332422 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369122 55369123 CM023779 - 1 DM NULL GCH1 Dystonia: dopa-responsive CCATCCTGAGCTCGCTGGGCGAGAACCCCC[A/C]GCGGCAAGGGCTGCTCAAGACGCCCTGGAG 12473771 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369132 55369133 CM101353 - 1 DM NULL GCH1 Dystonia: paroxysmal exercise-induced GCCTACTCGTCCATCCTGAGCTCGCTGGGC[G/T]AGAACCCCCAGCGGCAAGGGCTGCTCAAGA 20187889 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369134 55369135 CM983467 - 1 DM NULL GCH1 Dystonia: dopa-responsive CCGCCTACTCGTCCATCCTGAGCTCGCTGG[G/C]CGAGAACCCCCAGCGGCAAGGGCTGCTCAA 9778264 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369136 55369153 CD011612 - 5 DM NULL GCH1 Dystonia: dopa-responsive AACCTCCCTAACCTGGCAGCCGCCTACTCG[TCCATCCTGAGCTCGCTG/-]GGCGAGAACCCCCAGCGGCAAGGGCTGCTC 9566388 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369137 55369138 CM102989 - 1 DM NULL GCH1 Dystonia: dopa-responsive CAGCCGCCTACTCGTCCATCCTGAGCTCGC[T/C]GGGCGAGAACCCCCAGCGGCAAGGGCTGCT 20437540 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369140 55369141 CM093863 - 1 DM NULL GCH1 Dystonia: dopa-responsive TGGCAGCCGCCTACTCGTCCATCCTGAGCT[C/A]GCTGGGCGAGAACCCCCAGCGGCAAGGGCT 19491146 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369141 55369142 CM103122 - 1 DM NULL GCH1 Dystonia: dopa-responsive CTGGCAGCCGCCTACTCGTCCATCCTGAGC[T/C]CGCTGGGCGAGAACCCCCAGCGGCAAGGGC 20082337 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369142 55369147 CD124807 - 5 DM NULL GCH1 Dystonia: dopa-responsive CCTAACCTGGCAGCCGCCTACTCGTCCATC[CTGAGC/-]TCGCTGGGCGAGAACCCCCAGCGGCAAGGG 22633640 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369143 55369144 CM102988 - 1 DM NULL GCH1 Dystonia: dopa-responsive ACCTGGCAGCCGCCTACTCGTCCATCCTGA[G/A]CTCGCTGGGCGAGAACCCCCAGCGGCAAGG 20437540 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369146 55369147 CM950568 - 1 DM NULL GCH1 Dystonia: dopa-responsive CTAACCTGGCAGCCGCCTACTCGTCCATCC[T/C]GAGCTCGCTGGGCGAGAACCCCCAGCGGCA 7501255 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369149 55369150 CD101206 - 5 DM rs61762303 GCH1 Dystonia: dopa-responsive TCCCTAACCTGGCAGCCGCCTACTCGTCCA[T/-]CCTGAGCTCGCTGGGCGAGAACCCCCAGCG 19566901 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369155 55369156 CM103121 - 1 DM NULL GCH1 Dystonia: dopa-responsive TGAACCTCCCTAACCTGGCAGCCGCCTACT[C/A]GTCCATCCTGAGCTCGCTGGGCGAGAACCC 20082337 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369157 55369158 CM003931 - 1 DM NULL GCH1 Dystonia: dopa-responsive GCTGAACCTCCCTAACCTGGCAGCCGCCTA[C/A]TCGTCCATCCTGAGCTCGCTGGGCGAGAAC 11113234 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369158 55369159 CM062754 - 1 DM NULL GCH1 Tetrahydrobiopterin deficiency AGCTGAACCTCCCTAACCTGGCAGCCGCCT[A/C]CTCGTCCATCCTGAGCTCGCTGGGCGAGAA 16361586 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369158 55369159 HM030020 - 1 DM NULL GCH1 Dystonia: dopa-responsive AGCTGAACCTCCCTAACCTGGCAGCCGCCT[A/G]CTCGTCCATCCTGAGCTCGCTGGGCGAGAA HGOL chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369161 55369162 CM011342 - 1 DM NULL GCH1 Dystonia: dopa-responsive ACGAGCTGAACCTCCCTAACCTGGCAGCCG[C/T]CTACTCGTCCATCCTGAGCTCGCTGGGCGA 9778264 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369164 55369165 CM109302 - 1 DM NULL GCH1 GTP-cyclohydrolase I deficiency without hyperphenylalaninemia ATAACGAGCTGAACCTCCCTAACCTGGCAG[C/A]CGCCTACTCGTCCATCCTGAGCTCGCTGGG 20818608 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369170 55369171 CD011611 - 5 DM NULL GCH1 Dystonia: dopa-responsive AGGAGGATAACGAGCTGAACCTCCCTAACC[T/-]GGCAGCCGCCTACTCGTCCATCCTGAGCTC 9566388 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369170 55369171 CM011341 - 1 DM NULL GCH1 Dystonia: dopa-responsive AGGAGGATAACGAGCTGAACCTCCCTAACC[T/A]GGCAGCCGCCTACTCGTCCATCCTGAGCTC 9778264 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369176 55369177 CM044888 - 1 DM rs56127440 GCH1 Tetrahydrobiopterin deficiency GCAGCGAGGAGGATAACGAGCTGAACCTCC[C/T]TAACCTGGCAGCCGCCTACTCGTCCATCCT 15389992 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369181 55369182 CI045721 - 6 DM NULL GCH1 Dystonia: progressive GCCCCGCAGCGAGGAGGATAACGAGCTGAA[-/TGAA]CCTCCCTAACCTGGCAGCCGCCTACTCGTC 14509676 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369189 55369190 CM960723 - 1 DM NULL GCH1 Dystonia: dopa-responsive GGCGAGCGGCCCCGCAGCGAGGAGGATAAC[G/T]AGCTGAACCTCCCTAACCTGGCAGCCGCCT 8619546 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369201 55369202 CM011340 - 1 DM NULL GCH1 Dystonia: dopa-responsive GACGGCTGGAAGGGCGAGCGGCCCCGCAGC[G/T]AGGAGGATAACGAGCTGAACCTCCCTAACC 9647318 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369207 55369208 CD124037 - 5 DM NULL GCH1 Dystonia: dopa-responsive CCCGCGGACGGCTGGAAGGGCGAGCGGCCC[C/-]GCAGCGAGGAGGATAACGAGCTGAACCTCC 22068827 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369207 55369208 CM086713 - 1 DM? NULL GCH1 Dystonia: dopa-responsive CCCGCGGACGGCTGGAAGGGCGAGCGGCCC[C/G]GCAGCGAGGAGGATAACGAGCTGAACCTCC 18587264 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369216 55369217 CM011339 - 1 DM NULL GCH1 Dystonia: dopa-responsive AGCGCGCAGCCCGCGGACGGCTGGAAGGGC[G/T]AGCGGCCCCGCAGCGAGGAGGATAACGAGC 9778264 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369223 55369224 CD067172 - 5 DM NULL GCH1 Dystonia: dopa-responsive GGCCAAGAGCGCGCAGCCCGCGGACGGCTG[G/-]AAGGGCGAGCGGCCCCGCAGCGAGGAGGAT 16289769 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369233 55369234 CD011610 - 5 DM NULL GCH1 Dystonia: dopa-responsive CGCGGCCCGAGGCCAAGAGCGCGCAGCCCG[C/-]GGACGGCTGGAAGGGCGAGCGGCCCCGCAG 9566388 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369240 55369241 CD093878 - 5 DM NULL GCH1 Dystonia: dopa-responsive GAAGCCCCCGCGGCCCGAGGCCAAGAGCGC[GC/-]AGCCCGCGGACGGCTGGAAGGGCGAGCGGC 19491146 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369240 55369241 CM011338 - 1 DM rs104894444 GCH1 Dystonia: dopa-responsive AAGCCCCCGCGGCCCGAGGCCAAGAGCGCG[C/T]AGCCCGCGGACGGCTGGAAGGGCGAGCGGC 11359069 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369314 55369315 CM011337 - 1 DM rs41298432 GCH1 Dystonia: dopa-responsive CGCGGGGCGCCAGGTGCAGCAATGGGTTCC[C/T]CGAGCGGGATCCGCCGCGGCCCGGGCCCAG 9328244 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369319 55369320 CX082305 - 4 DM NULL GCH1 Dystonia: progressive AGAAGCCGCGGGGCGCCAGGTGCAGCAATG[GG/AACC]TTCCCCGAGCGGGATCCGCCGCGGCCCGGG 18202219 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369359 55369360 CP052797 - 4 DM NULL GCH1 Dystonia: dopa-responsive GGCGGGTCCATGGAGAAGGGCCCTGTGCGG[GC/TA]ACCGGCGGAGAAGCCGCGGGGCGCCAGGTG 15753436 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369377 55369378 CI941877 - 6 DM NULL GCH1 Dystonia: dopa-responsive CGAACGGCAGCGGCTGCGGCGGGTCCATGG[-/GG]AGAAGGGCCCTGTGCGGGCACCGGCGGAGA 7874165 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369379 55369380 CM078109 - 1 DM NULL GCH1 Dystonia: dopa-responsive cccgaacggcagcggctgcggcgggtccAT[G/A]GAGAAGGGCCCTGTGCGGGCACCGGCGGAG 17557242 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369379 55369380 CM983930 - 1 DM rs104894439 GCH1 Dystonia: dopa-responsive cccgaacggcagcggctgcggcgggtccAT[G/C]GAGAAGGGCCCTGTGCGGGCACCGGCGGAG 9576537 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369380 55369381 CM102987 - 1 DM NULL GCH1 Dystonia: dopa-responsive tcccgaacggcagcggctgcggcgggtccA[T/C]GGAGAAGGGCCCTGTGCGGGCACCGGCGGA 20437540 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369381 55369382 CM118175 - 1 DM NULL GCH1 Dystonia: dopa-responsive ttcccgaacggcagcggctgcggcgggtcc[A/T]TGGAGAAGGGCCCTGTGCGGGCACCGGCGG 21935284 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369381 55369382 CM121723 - 1 DM NULL GCH1 Dystonia: dopa-responsive ttcccgaacggcagcggctgcggcgggtcc[A/G]TGGAGAAGGGCCCTGTGCGGGCACCGGCGG 22373569 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369403 55369404 CR001857 - 3 DM NULL GCH1 Dystonia: dopa-responsive ACCTCGAAGCGCCCCGGGGTCCTTCCCGAA[C/T]GGCAGCGGCTGCGGCGGGTCCATGGAGAAG 10825351 chr14 55368646 55370048 GCH1 S chr14_54605431_54605738_11110_4 1 chr14 55369420 55369421 CR983949 - 3 DM? NULL GCH1 Dystonia: dopa-responsive GCGGAGTTTAGCCGCAGACCTCGAAGCGCC[C/T]CGGGGTCCTTCCCGAACGGCAGCGGCTGCG 9778264 chr14 57047832 57047974 C14orf101 F chr14_57046969_57047103_10000_1 1 . -1 -1 . -1 . . . . . . . chr14 58766869 58767218 ARID4A F chr14_58764868_58765162_11111_2:chr14_58766351_58766504_11100_1 2 . -1 -1 . -1 . . . . . . . chr14 59654898 59656911 DAAM1 F chr14_59656703_59656853_10100_1 1 . -1 -1 . -1 . . . . . . . chr14 59656513 59656908 DAAM1 F chr14_59655250_59655530_11110_2:chr14_59656703_59656853_10100_1 2 . -1 -1 . -1 . . . . . . . chr14 59949393 59949731 C14orf149 F chr14_59950568_59950776_11101_1:chr14_59951157_59951391_11101_1 2 . -1 -1 . -1 . . . . . . . chr14 62157799 62158071 HIF1A F chr14_62161930_62162089_11010_2 1 . -1 -1 . -1 . . . . . . . chr14 64109095 64109326 WDR89 F chr14_64108482_64108768_11111_1:chr14_64108482_64108768_11111_1 2 . -1 -1 . -1 . . . . . . . chr14 64968114 64968655 ZBTB1 F chr14_64968290_64968553_11011_2:chr14_64970371_64970509_10100_1:chr14_64971254_64971738_11111_1 3 . -1 -1 . -1 . . . . . . . chr14 64968114 64968655 ZBTB25 F chr14_64968290_64968553_11011_2:chr14_64970371_64970509_10100_1 2 . -1 -1 . -1 . . . . . . . chr14 64968184 64971054 ZBTB25 F chr14_64967814_64967932_10000_3:chr14_64968290_64968553_11011_2 2 . -1 -1 . -1 . . . . . . . chr14 64968184 64971792 ZBTB1 F chr14_64967814_64967932_10000_3:chr14_64968290_64968553_11011_2 2 . -1 -1 . -1 . . . . . . . chr14 65172114 65172865 PLEKHG3 F chr14_65170692_65171158_11101_2 1 . -1 -1 . -1 . . . . . . . chr14 68281633 68281808 ZFYVE26 F chr14_68283270_68283717_11111_3 1 . -1 -1 . -1 . . . . . . . chr14 73524747 73526063 RBM25 S chr14_74238654_74238800_11000_1 1 . -1 -1 . -1 . . . . . . . chr14 74225038 74225489 ELMSAN1 S chr14_74238654_74238800_11000_1 1 . -1 -1 . -1 . . . . . . . chr14 74226500 74229571 C14orf43 F chr14_74229199_74229372_10000_1 1 . -1 -1 . -1 . . . . . . . chr14 74228325 74228451 C14orf43 F chr14_74226774_74227322_11110_3 1 . -1 -1 . -1 . . . . . . . chr14 74228460 74228789 C14orf43 F chr14_74226774_74227322_11110_3 1 . -1 -1 . -1 . . . . . . . chr14 74229197 74229543 C14orf43 F chr14_74226774_74227322_11110_3:chr14_74229199_74229372_10000_1 2 . -1 -1 . -1 . . . . . . . chr14 74238600 74238800 ELMSAN1 S chr14_74252585_74252861_11111_3 1 . -1 -1 . -1 . . . . . . . chr14 74238600 74238800 RBM25 S chr14_73525026_73525259_11011_3:chr14_73525650_73525891_11000_1 2 . -1 -1 . -1 . . . . . . . chr14 74252585 74253067 ELMSAN1 S chr14_74238654_74238800_11000_1 1 . -1 -1 . -1 . . . . . . . chr14 74718000 74718334 ELMSAN1 S chr14_74252585_74252861_11111_3 1 . -1 -1 . -1 . . . . . . . chr14 75521336 75521721 MLH3 F chr14_75517742_75518343_11111_1 1 . -1 -1 . -1 . . . . . . . chr14 75741549 75742051 FOS F chr14_75743860_75744009_11101_1 1 . -1 -1 . -1 . . . . . . . chr14 81685513 81686063 GTF2A1 F chr14_81685639_81685886_11111_2:chr14_81685639_81685886_11111_2:chr14_81687381_81687491_11110_1:chr14_81687381_81687491_11110_1 4 . -1 -1 . -1 . . . . . . . chr14 81685588 81687794 GTF2A1 F chr14_81685639_81685886_11111_2 1 . -1 -1 . -1 . . . . . . . chr14 81685588 81688075 GTF2A1 F chr14_81685639_81685886_11111_2 1 . -1 -1 . -1 . . . . . . . chr14 81864426 81867636 STON2 F chr14_81867335_81867525_11001_1 1 . -1 -1 . -1 . . . . . . . chr14 81867255 81867616 STON2 F chr14_81867335_81867525_11001_1 1 . -1 -1 . -1 . . . . . . . chr14 89817357 89818800 FOXN3 S chr14_89883503_89883706_10001_1:chr14_89884416_89884504_11011_2 2 . -1 -1 . -1 . . . . . . . chr14 89881744 89883954 FOXN3 F chr14_89882058_89882206_11010_2 1 . -1 -1 . -1 . . . . . . . chr14 89881748 89882141 FOXN3 F chr14_89882058_89882206_11010_2:chr14_89882578_89882893_11001_1:chr14_89883503_89883706_10001_1 3 . -1 -1 . -1 . . . . . . . chr14 89883337 89884504 FOXN3 S chr14_89817976_89818667_11111_3 1 . -1 -1 . -1 . . . . . . . chr14 90081839 90081992 FOXN3 F chr14_90084278_90084491_11101_1:chr14_90084832_90085016_11101_4:chr14_90085259_90085994_11101_3 3 . -1 -1 . -1 . . . . . . . chr14 90083286 90083622 FOXN3 F chr14_90084278_90084491_11101_1:chr14_90084832_90085016_11101_4:chr14_90085259_90085994_11101_3 3 . -1 -1 . -1 . . . . . . . chr14 90083771 90084428 FOXN3 F chr14_90084278_90084491_11101_1:chr14_90084832_90085016_11101_4:chr14_90085259_90085994_11101_3 3 . -1 -1 . -1 . . . . . . . chr14 90083899 90085994 FOXN3 F chr14_90084278_90084491_11101_1 1 . -1 -1 . -1 . . . . . . . chr14 90086646 90086901 FOXN3 F chr14_90084993_90085016_11101_4:chr14_90085259_90086052_11101_3 2 . -1 -1 . -1 . . . . . . . chr14 91528012 91528136 RPS6KA5 F chr14_91527247_91527514_10010_2 1 . -1 -1 . -1 . . . . . . . chr14 91529481 91529737 RPS6KA5 F chr14_91527247_91527514_10010_2 1 . -1 -1 . -1 . . . . . . . chr14 92572013 92573465 ATXN3 F chr14_92571902_92572079_10000_1 1 . -1 -1 . -1 . . . . . . . chr14 92572132 92572295 ATXN3 F chr14_92572013_92572079_10000_1:chr14_92572816_92572955_10100_1 2 . -1 -1 . -1 . . . . . . . chr14 94841800 94843287 SERPINA1 S chr14_94850154_94850246_11010_1:chr14_94851367_94851479_11010_1:chr14_94853537_94854025_11010_2:chr14_94854851_94855219_11010_2 4 . -1 -1 . -1 . . . . . . . chr14 94849438 94849847 SERPINA1 S chr14_94841881_94842755_11010_3:chr14_94842017_94842305_11010_2:chr14_94843141_94843287_11010_4:chr14_95060309_95060639_10000_3 4 chr14 94849460 94849461 CM003328 - 1 DM rs138070585 SERPINA1 Asthma GGAGATGCTGCCCAGAAGACAGATACATCC[C/A]ACCATGATCAGGATCACCCAACCTTCAACA 11180610 chr14 94849438 94849847 SERPINA1 S chr14_94841881_94842755_11010_3:chr14_94842017_94842305_11010_2:chr14_94843141_94843287_11010_4:chr14_95060309_95060639_10000_3 4 chr14 94849558 94849559 CM900181 - 1 DM rs140814100 SERPINA1 Antitrypsin alpha 1 deficiency tgtcttgcaggacaATGCCGTCTTCTGTCT[C/T]GTGGGGCATCCTCCTGCTGGCAGGCCTGTG 2227940 chr14 94850154 94850246 SERPINA1 S chr14_94841881_94842755_11010_3:chr14_94842017_94842305_11010_2:chr14_94843141_94843287_11010_4:chr14_95060309_95060639_10000_3 4 . -1 -1 . -1 . . . . . . . chr14 94851193 94851616 SERPINA1 S chr14_94841881_94842755_11010_3:chr14_94842017_94842305_11010_2:chr14_94843141_94843287_11010_4:chr14_95060309_95060639_10000_3 4 . -1 -1 . -1 . . . . . . . chr14 94853523 94855281 SERPINA1 S chr14_94841881_94842755_11010_3:chr14_94842017_94842305_11010_2:chr14_94843141_94843287_11010_4:chr14_95060309_95060639_10000_3 4 chr14 94854896 94854897 CS021763 - 2 DM NULL SERPINA1 Antitrypsin alpha 1 deficiency GGCACCACCACTGACCTGGGACAGTGAATC[G/A]taagtatgcctttcactgcgagaggttctg 12220457 chr14 94856528 94861373 SERPINA1 F chr14_94860648_94860782_11000_3:chr14_94860945_94861696_00000_4 2 chr14 94856657 94856658 CR061338 - 3 DP rs17751769 SERPINA1 Chronic obstructive pulmonary disease: association with AAGAAATGCCCAGGAGCTACCGAGGGCAGG[C/T]GACCTCAACCACAGCCCAGTGCTGGAGCTG 16278826 chr14 94856528 94861373 SERPINA1 F chr14_94860648_94860782_11000_3:chr14_94860945_94861696_00000_4 2 chr14 94856914 94856915 CR061339 - 3 DP rs8004738 SERPINA1 Chronic obstructive pulmonary disease: association with AGGGGGTCGGGCCTCCGAGGAAGGCCTAGC[C/T]GCTGCTGCTGCCAGGAATTCCAGGTTGGAG 16278826 chr14 94860948 94861396 SERPINA1 F chr14_94856803_94857420_11010_2:chr14_94858870_94859262_11000_2:chr14_94859907_94860151_11010_4:chr14_94860398_94860782_11000_3:chr14_94860945_94861373_00000_4 5 . -1 -1 . -1 . . . . . . . chr14 94918862 94919400 SERPINA11 S chr14_95146843_95147200_11000_2 1 . -1 -1 . -1 . . . . . . . chr14 95059674 95060800 SERPINA1 S chr14_94850154_94850246_11010_1:chr14_94851367_94851479_11010_1:chr14_94853537_94854025_11010_2:chr14_94854851_94855219_11010_2 4 . -1 -1 . -1 . . . . . . . chr14 95146843 95147200 SERPINA11 S chr14_94919076_94919288_11111_3 1 . -1 -1 . -1 . . . . . . . chr14 95789157 95789358 CLMN F chr14_95785800_95785917_11100_1 1 . -1 -1 . -1 . . . . . . . chr14 102277268 102277494 PPP2R5C F chr14_102275639_102275818_11010_2:chr14_102276636_102276769_11010_1 2 . -1 -1 . -1 . . . . . . . chr14 102554875 102555215 HSP90AA1 F chr14_102553751_102553970_10000_1 1 . -1 -1 . -1 . . . . . . . chr15 31617195 31617521 KLF13 F chr15_31618590_31618898_11111_1 1 . -1 -1 . -1 . . . . . . . chr15 31618582 31621186 KLF13 F chr15_31620435_31620557_11111_1 1 . -1 -1 . -1 . . . . . . . chr15 31620735 31621235 KLF13 F chr15_31618590_31618898_11111_1:chr15_31620349_31620557_11111_1 2 . -1 -1 . -1 . . . . . . . chr15 34627277 34627936 SLC12A6 F chr15_34629867_34630039_10000_1:chr15_34629867_34630039_10000_1 2 . -1 -1 . -1 . . . . . . . chr15 39464492 39464600 THBS1 S chr15_39873964_39874083_10000_1 1 . -1 -1 . -1 . . . . . . . chr15 39872454 39873695 THBS1 S chr15_40294488_40294787_11000_3 1 . -1 -1 . -1 . . . . . . . chr15 40397040 40397227 BMF F chr15_40398844_40399014_11000_3:chr15_40398844_40399014_11000_3:chr15_40399634_40399792_10000_2 3 . -1 -1 . -1 . . . . . . . chr15 40397293 40397725 BMF F chr15_40398844_40399014_11000_3:chr15_40398844_40399014_11000_3:chr15_40399634_40399792_10000_2 3 . -1 -1 . -1 . . . . . . . chr15 41185333 41185514 VPS18 F chr15_41186443_41186716_11100_1 1 . -1 -1 . -1 . . . . . . . chr15 42261117 42261163 EHD4 F chr15_42264918_42265246_11100_2 1 . -1 -1 . -1 . . . . . . . chr15 42262075 42262564 EHD4 F chr15_42264918_42265246_11100_2 1 . -1 -1 . -1 . . . . . . . chr15 42786035 42786158 SNAP23 F chr15_42787621_42787898_10000_3 1 . -1 -1 . -1 . . . . . . . chr15 44954800 44955080 SPG11 F chr15_44955885_44956028_11101_1 1 . -1 -1 . -1 . . . . . . . chr15 45004703 45005017 B2M F chr15_45003997_45004143_11000_1 1 . -1 -1 . -1 . . . . . . . chr15 45005185 45005759 B2M F chr15_45003997_45004143_11000_1 1 . -1 -1 . -1 . . . . . . . chr15 45926755 45930096 SQRDL F chr15_45929849_45930050_10000_1 1 . -1 -1 . -1 . . . . . . . chr15 45929603 45930187 SQRDL F chr15_45926755_45926996_10000_3:chr15_45927596_45927748_10000_1:chr15_45929849_45930050_10000_1 3 . -1 -1 . -1 . . . . . . . chr15 45930863 45931040 SQRDL F chr15_45926755_45926996_10000_3:chr15_45927596_45927748_10000_1:chr15_45929849_45930050_10000_1 3 . -1 -1 . -1 . . . . . . . chr15 49148000 49148184 SECISBP2L S chr15_49338633_49338876_11000_1 1 . -1 -1 . -1 . . . . . . . chr15 49338087 49339044 SECISBP2L S chr15_49148094_49148184_10000_1 1 . -1 -1 . -1 . . . . . . . chr15 50475759 50476090 SLC27A2 F chr15_50474202_50474459_11101_1 1 . -1 -1 . -1 . . . . . . . chr15 52028351 52028526 LYSMD2 F chr15_52028926_52029192_11101_2:chr15_52030134_52030458_10000_2 2 . -1 -1 . -1 . . . . . . . chr15 52402379 52402574 BCL2L10 F chr15_52404344_52404606_10000_1 1 . -1 -1 . -1 . . . . . . . chr15 53077793 53082709 ONECUT1 F chr15_53077495_53078250_11101_3 1 . -1 -1 . -1 . . . . . . . chr15 53077795 53078191 ONECUT1 F chr15_53077793_53078250_11101_3:chr15_53078738_53078974_11100_2:chr15_53081102_53081303_11101_1:chr15_53082594_53082709_11101_1 4 . -1 -1 . -1 . . . . . . . chr15 55487983 55488563 RSL24D1 F chr15_55488999_55489374_11000_2 1 . -1 -1 . -1 . . . . . . . chr15 55581016 55581448 RAB27A F chr15_55581197_55581451_10000_2:chr15_55581897_55582088_11000_1:chr15_55582417_55582513_11000_2 3 . -1 -1 . -1 . . . . . . . chr15 55581032 55582513 RAB27A F chr15_55581197_55581451_10000_2 1 . -1 -1 . -1 . . . . . . . chr15 57210498 57212336 ZNF280D S chr15_57788901_57789058_10100_1:chr15_57789356_57789532_11001_3 2 . -1 -1 . -1 . . . . . . . chr15 57788512 57790288 ZNF280D S chr15_57210541_57210999_11101_1:chr15_57211926_57212101_10100_1 2 . -1 -1 . -1 . . . . . . . chr15 58429907 58433980 AQP9 F chr15_58434140_58434352_11101_2 1 . -1 -1 . -1 . . . . . . . chr15 58433507 58434052 AQP9 F chr15_58430240_58430500_11101_2:chr15_58431104_58431348_11101_1:chr15_58431559_58432578_10101_3 3 . -1 -1 . -1 . . . . . . . chr15 59949298 59949977 GTF2A2 S chr15_60666920_60667112_10000_1 1 . -1 -1 . -1 . . . . . . . chr15 59978524 59982142 BNIP2 F chr15_59978352_59978413_10000_3 1 . -1 -1 . -1 . . . . . . . chr15 59978652 59978797 BNIP2 F chr15_59979101_59979243_10000_1:chr15_59980644_59980786_10000_2:chr15_59981491_59982142_11100_3 3 . -1 -1 . -1 . . . . . . . chr15 60881604 60881753 RORA F chr15_60883217_60883394_11101_3:chr15_60884699_60885176_10101_3 2 . -1 -1 . -1 . . . . . . . chr15 60883059 60884017 RORA F chr15_60883338_60883394_11101_3:chr15_60884699_60885176_10101_3 2 . -1 -1 . -1 . . . . . . . chr15 60883338 60885207 RORA F chr15_60883217_60883394_11101_3 1 . -1 -1 . -1 . . . . . . . chr15 63340166 63341526 TPM1 S chr15_63766400_63766745_10000_2 1 . -1 -1 . -1 . . . . . . . chr15 63766400 63767570 CSNK1G1 S chr15_64648357_64648488_11000_1 1 . -1 -1 . -1 . . . . . . . chr15 63766400 63767570 FBXL22 S chr15_63892777_63893104_11101_3 1 . -1 -1 . -1 . . . . . . . chr15 63766400 63767570 PPIB S chr15_64455349_64455660_11101_2 1 . -1 -1 . -1 . . . . . . . chr15 63766400 63767570 TPM1 S chr15_63340308_63340550_11101_1 1 . -1 -1 . -1 . . . . . . . chr15 63766400 63767570 TRIP4 S chr15_64679897_64680083_11000_2 1 . -1 -1 . -1 . . . . . . . chr15 63766400 63767570 USP3 S chr15_63795437_63795744_10000_2:chr15_63796698_63796891_10000_2:chr15_63797697_63797824_10000_1 3 . -1 -1 . -1 . . . . . . . chr15 63795289 63797980 USP3 S chr15_63766400_63766745_10000_2 1 . -1 -1 . -1 . . . . . . . chr15 63891790 63893879 FBXL22 S chr15_63766400_63766745_10000_2 1 . -1 -1 . -1 . . . . . . . chr15 64454737 64455822 PPIB S chr15_63766400_63766745_10000_2 1 chr15 64455066 64455067 CD110807 - 5 DM rs137853865 PPIB Osteogenesis imperfecta TTCTGCGGCCGATGAGAAGAAGAAGGGGCC[C/-]AAAGTCACCGTCAAGGTCCGGTGGAGTCCG 21239989 chr15 64454737 64455822 PPIB S chr15_63766400_63766745_10000_2 1 chr15 64455184 64455185 CM100879 - 1 DM NULL PPIB Osteogenesis imperfecta: recessive gtccgggctgctttcgcctccgcctgtggA[T/G]GCTGCGCCTCTCCGAACGCAACATGAAGGT 20089953 chr15 64647682 64648796 CSNK1G1 S chr15_63766400_63766745_10000_2 1 . -1 -1 . -1 . . . . . . . chr15 64679678 64680309 TRIP4 S chr15_63766400_63766745_10000_2 1 . -1 -1 . -1 . . . . . . . chr15 66789411 66790600 SNAPC5 S chr15_67439412_67439634_10000_2 1 . -1 -1 . -1 . . . . . . . chr15 67397400 67398200 SNAPC5 S chr15_66790025_66790218_11000_2 1 . -1 -1 . -1 . . . . . . . chr15 67439200 67440165 SNAPC5 S chr15_66790025_66790218_11000_2 1 . -1 -1 . -1 . . . . . . . chr15 69452472 69454232 GLCE F chr15_69453971_69454079_11001_1 1 . -1 -1 . -1 . . . . . . . chr15 69453904 69454158 GLCE F chr15_69452489_69452967_10101_1:chr15_69453971_69454079_11001_1 2 . -1 -1 . -1 . . . . . . . chr15 70389755 70391699 TLE3 F chr15_70391836_70392035_11100_2 1 . -1 -1 . -1 . . . . . . . chr15 70389755 70392244 TLE3 F chr15_70391836_70392190_11100_2 1 . -1 -1 . -1 . . . . . . . chr15 70389755 70392703 TLE3 F chr15_70392097_70392190_11100_2 1 . -1 -1 . -1 . . . . . . . chr15 70391261 70391735 TLE3 F chr15_70390146_70390432_11101_2 1 . -1 -1 . -1 . . . . . . . chr15 70391851 70392235 TLE3 F chr15_70390146_70390432_11101_2:chr15_70391836_70392190_11100_2 2 . -1 -1 . -1 . . . . . . . chr15 70392397 70392607 TLE3 F chr15_70390146_70390432_11101_2:chr15_70391836_70392190_11100_2 2 . -1 -1 . -1 . . . . . . . chr15 70392960 70393272 TLE3 F chr15_70390146_70390432_11101_2:chr15_70391836_70392190_11100_2 2 . -1 -1 . -1 . . . . . . . chr15 71145997 71149455 LARP6 F chr15_71149246_71149429_10000_1 1 . -1 -1 . -1 . . . . . . . chr15 71149072 71149436 LARP6 F chr15_71149246_71149429_10000_1 1 . -1 -1 . -1 . . . . . . . chr15 72671459 72671771 HEXA F chr15_72668349_72668500_11101_1 1 . -1 -1 . -1 . . . . . . . chr15 73077755 73078078 ADPGK F chr15_73076030_73076217_11101_2:chr15_73076720_73077103_11000_2 2 . -1 -1 . -1 . . . . . . . chr15 74287730 74287905 PML F chr15_74286907_74287106_11101_1 1 . -1 -1 . -1 . . . . . . . chr15 74289381 74289564 PML F chr15_74286907_74287106_11101_1 1 . -1 -1 . -1 . . . . . . . chr15 74834290 74834419 ARID3B F chr15_74833280_74833392_10100_1 1 . -1 -1 . -1 . . . . . . . chr15 75017376 75019208 CYP1A1 F chr15_75018365_75018469_10000_1:chr15_75018699_75019482_10000_1 2 . -1 -1 . -1 . . . . . . . chr15 75018665 75019349 CYP1A1 F chr15_75017780_75017900_10000_1:chr15_75018285_75018469_10000_1:chr15_75018699_75019208_10000_1 3 . -1 -1 . -1 . . . . . . . chr15 75073348 75073866 CSK F chr15_75073407_75073573_11100_2 1 . -1 -1 . -1 . . . . . . . chr15 75073407 75074925 CSK F chr15_75073317_75073573_11100_2 1 . -1 -1 . -1 . . . . . . . chr15 75437271 75438449 MAN2C1 S chr15_75660244_75660522_11101_1:chr15_75660932_75661145_11101_1 2 . -1 -1 . -1 . . . . . . . chr15 75743425 75746733 SIN3A F chr15_75746281_75746826_11101_3 1 . -1 -1 . -1 . . . . . . . chr15 75743586 75746733 SIN3A F chr15_75746281_75746826_11101_3 1 . -1 -1 . -1 . . . . . . . chr15 75744907 75745094 SIN3A F chr15_75744033_75744231_11101_1:chr15_75744033_75744231_11101_1:chr15_75746281_75746826_11101_3:chr15_75748565_75748624_10100_1 4 . -1 -1 . -1 . . . . . . . chr15 75745296 75745530 SIN3A F chr15_75744033_75744231_11101_1:chr15_75744033_75744231_11101_1:chr15_75746281_75746826_11101_3:chr15_75748565_75748624_10100_1 4 . -1 -1 . -1 . . . . . . . chr15 75746315 75746749 SIN3A F chr15_75744033_75744231_11101_1:chr15_75744033_75744231_11101_1:chr15_75746281_75746733_11101_3:chr15_75746281_75746733_11101_3:chr15_75746332_75746826_11101_3:chr15_75748565_75748624_10100_1 6 . -1 -1 . -1 . . . . . . . chr15 75746332 75748624 SIN3A F chr15_75746281_75746826_11101_3 1 . -1 -1 . -1 . . . . . . . chr15 75747348 75747533 SIN3A F chr15_75748565_75748624_10100_1 1 . -1 -1 . -1 . . . . . . . chr15 78368268 78368362 TBC1D2B F chr15_78369477_78369640_10000_1 1 . -1 -1 . -1 . . . . . . . chr15 79234527 79234916 CTSH F chr15_79236805_79236957_11101_1 1 . -1 -1 . -1 . . . . . . . chr15 80192489 80192729 MTHFS F chr15_80189181_80189585_10000_1:chr15_80189181_80189585_10000_1:chr15_80191208_80191451_10000_3:chr15_80191208_80191451_10000_3 4 . -1 -1 . -1 . . . . . . . chr15 80259231 80259586 BCL2A1 F chr15_80260092_80260242_10000_1:chr15_80260797_80260975_11000_1 2 . -1 -1 . -1 . . . . . . . chr15 80260449 80264143 BCL2A1 F chr15_80260188_80260242_10000_1:chr15_80260797_80260975_11000_1 2 chr15 80263217 80263218 CM064994 - 1 DP rs3826007 BCL2A1 Colorectal cancer: increased risk: association with ACCAAGTGATGGAAAAGGAGTTTGAAGACG[G/A]CATCATTAACTGGGGAAGAATTGTAACCAT 17000706 chr15 80260488 80260810 BCL2A1 F chr15_80260797_80260975_11000_1 1 . -1 -1 . -1 . . . . . . . chr15 80265919 80266168 BCL2A1 F chr15_80264532_80264694_11000_1:chr15_80265295_80265501_11000_3 2 . -1 -1 . -1 . . . . . . . chr15 83477472 83480172 WHAMM F chr15_83479379_83479485_10000_2 1 . -1 -1 . -1 . . . . . . . chr15 83479679 83480264 WHAMM F chr15_83478068_83478349_10000_2:chr15_83479289_83479485_10000_2 2 . -1 -1 . -1 . . . . . . . chr15 85359410 85362019 ALPK3 F chr15_85362118_85362291_10000_1 1 . -1 -1 . -1 . . . . . . . chr15 89181538 89183621 ISG20 F chr15_89183117_89183432_11000_1 1 . -1 -1 . -1 . . . . . . . chr15 89183173 89183667 ISG20 F chr15_89181538_89182790_11001_3:chr15_89183117_89183432_11000_1 2 . -1 -1 . -1 . . . . . . . chr15 89877399 89878585 23612 S chr15_90349761_90350299_11110_3 1 chr15 89878391 89878392 CR125757 - 3 DFP rs2856268 POLG Breast cancer: protection against: association with GTTCCTGAGGGAGGAATAAACTAAAAGTTA[A/G]TCATAACCTCCCTTCGACCGCGGCAGGACT 22684821 chr15 90349600 90351000 23612 S chr15_89878170_89878576_11111_2 1 . -1 -1 . -1 . . . . . . . chr15 90357155 90357491 ANPEP F chr15_90357991_90358168_10000_1 1 . -1 -1 . -1 . . . . . . . chr15 90547619 90547737 ZNF710 F chr15_90546488_90546763_10000_3 1 . -1 -1 . -1 . . . . . . . chr15 93340419 93340558 ASB9P1 S chr15_93460902_93461058_11001_2:chr15_93461223_93461278_11101_1 2 . -1 -1 . -1 . . . . . . . chr15 93351332 93353142 FAM174B S chr15_93460902_93461058_11001_2:chr15_93461223_93461278_11101_1:chr15_93461373_93461540_11101_1 3 . -1 -1 . -1 . . . . . . . chr15 93426340 93426795 CHD2 S chr15_93460902_93461058_11001_2:chr15_93461223_93461278_11101_1 2 . -1 -1 . -1 . . . . . . . chr15 93426972 93427076 CHD2 S chr15_93460902_93461058_11001_2:chr15_93461223_93461278_11101_1 2 . -1 -1 . -1 . . . . . . . chr15 93443200 93443877 CHD2 S chr15_93460902_93461058_11001_2:chr15_93461223_93461278_11101_1 2 . -1 -1 . -1 . . . . . . . chr15 93446995 93447931 CHD2 S chr15_93460902_93461058_11001_2:chr15_93461223_93461278_11101_1 2 . -1 -1 . -1 . . . . . . . chr15 93460800 93461278 ASB9P1 S chr15_93340419_93340558_11000_1 1 . -1 -1 . -1 . . . . . . . chr15 93460800 93461278 CHD2 S chr15_93443531_93443692_11111_1:chr15_93447391_93447830_11111_2 2 . -1 -1 . -1 . . . . . . . chr15 93460800 93461278 FAM174B S chr15_93351578_93351779_10000_1:chr15_93352266_93352954_10000_3 2 . -1 -1 . -1 . . . . . . . chr15 93461373 93461610 FAM174B S chr15_93351578_93351779_10000_1:chr15_93352266_93352954_10000_3 2 . -1 -1 . -1 . . . . . . . chr15 96867766 96869657 NR2F2 F chr15_96867548_96867720_11000_2 1 . -1 -1 . -1 . . . . . . . chr15 96867848 96868085 NR2F2 F chr15_96869331_96869489_11011_1 1 . -1 -1 . -1 . . . . . . . chr15 96871345 96871608 NR2F2 F chr15_96869331_96869489_11011_1:chr15_96869928_96870210_11111_1:chr15_96870543_96870671_11111_1:chr15_96872986_96873129_11111_1:chr15_96873782_96873970_10111_2 5 . -1 -1 . -1 . . . . . . . chr15 101834172 101834455 SNRPA1 F chr15_101835406_101835571_11111_1 1 . -1 -1 . -1 . . . . . . . chr15 101978106 101980200 TM2D3 S chr15_102192562_102192672_11010_1 1 . -1 -1 . -1 . . . . . . . chr15 102192070 102193300 TM2D3 S chr15_101978624_101978836_10000_2:chr15_101979577_101980102_11111_4 2 . -1 -1 . -1 . . . . . . . chr16 639576 643998 RAB40C F chr16_643570_643750_11000_2 1 . -1 -1 . -1 . . . . . . . chr16 639672 643998 RAB40C F chr16_643570_643750_11000_2 1 . -1 -1 . -1 . . . . . . . chr16 643606 643989 RAB40C F chr16_642808_643056_11000_2:chr16_642808_643056_11000_2:chr16_643570_643750_11000_2:chr16_643570_643750_11000_2 4 . -1 -1 . -1 . . . . . . . chr16 1128280 1132751 SSTR5 F chr16_1132007_1132036_10000_1 1 chr16 1129010 1129011 CM092595 + 1 DFP rs4988483 SSTR5 Bipolar affective disorder: association with GCCCGGGCGGTGCTGGTGCCCGTGCTGTAC[C/A]TGCTGGTGTGTGCGGCCGGGCTGGGCGGGA 12192619 chr16 1128280 1132751 SSTR5 F chr16_1132007_1132036_10000_1 1 chr16 1129586 1129587 CM012660 + 1 DM rs121917877 SSTR5 Somatostatin analog resistance GCGGCGGGCGTGCGCGTGGGCTGCGTGCGG[C/T]GGCGCTCGGAGCGGAAGGTGACGCGCATGG 11502816 chr16 1128280 1132751 SSTR5 F chr16_1132007_1132036_10000_1 1 chr16 1129872 1129873 CM1111107 + 1 FP rs169068 SSTR5 Increased cellular proliferation and PDX-1 overexpression CTGGTGCCAAGGACGCTGACGCCACGGAGC[C/T]GCGTCCAGACAGGATCCGGCAGCAGCAGGA 21249361 chr16 1132307 1132794 SSTR5 F chr16_1128582_1128831_10000_1:chr16_1131815_1132036_10000_1 2 . -1 -1 . -1 . . . . . . . chr16 1381809 1384106 BAIAP3 F chr16_1381786_1382020_11000_1 1 . -1 -1 . -1 . . . . . . . chr16 1381809 1386698 BAIAP3 F chr16_1381786_1382020_11000_1 1 . -1 -1 . -1 . . . . . . . chr16 1381826 1382192 BAIAP3 F chr16_1381809_1382020_11000_1:chr16_1381809_1382020_11000_1 2 . -1 -1 . -1 . . . . . . . chr16 1522812 1522824 CLCN7 F chr16_1525000_1525114_11000_1 1 . -1 -1 . -1 . . . . . . . chr16 1739200 1739600 TRAF7 S chr16_2202668_2203213_11000_3:chr16_2203629_2204171_11100_2:chr16_2205542_2205733_11111_1 3 . -1 -1 . -1 . . . . . . . chr16 2010918 2011568 RPS2 S chr16_1739200_1739440_11000_3 1 . -1 -1 . -1 . . . . . . . chr16 2057818 2059084 ZNF598 F chr16_2058548_2058904_10101_2 1 . -1 -1 . -1 . . . . . . . chr16 2058251 2060263 ZNF598 F chr16_2058548_2058904_10101_2 1 . -1 -1 . -1 . . . . . . . chr16 2202314 2204451 TRAF7 S chr16_1739200_1739440_11000_3 1 . -1 -1 . -1 . . . . . . . chr16 2204696 2206412 TRAF7 S chr16_1739200_1739440_11000_3 1 . -1 -1 . -1 . . . . . . . chr16 2518416 2522000 NTN3 F chr16_2518455_2518671_10101_1 1 . -1 -1 . -1 . . . . . . . chr16 2518541 2518691 NTN3 F chr16_2518455_2518671_10101_1 1 . -1 -1 . -1 . . . . . . . chr16 2518815 2522000 NTN3 F chr16_2518460_2518671_10101_1 1 . -1 -1 . -1 . . . . . . . chr16 2570096 2570541 AMDHD2 S chr16_1739200_1739440_11000_3 1 . -1 -1 . -1 . . . . . . . chr16 2580908 2583102 CEMP1 F chr16_2582601_2582777_10101_1 1 . -1 -1 . -1 . . . . . . . chr16 2582505 2583298 CEMP1 F chr16_2581999_2582177_10101_2:chr16_2582601_2582777_10101_1 2 . -1 -1 . -1 . . . . . . . chr16 3306126 3309535 MEFV F chr16_3309197_3309452_11010_2 1 chr16 3306323 3306324 CM045302 - 1 DM rs104895124 MEFV Mediterranean fever: familial CAGCGCCTGCTGGCCGAGGAGCTCCACAGG[G/A]CAGCCATTCAGGgtaagcgggcccaggcct 14985395 chr16 3306126 3309535 MEFV F chr16_3309197_3309452_11010_2 1 chr16 3306338 3306339 CM085534 - 1 DM rs150819742 MEFV Mediterranean fever: familial CTGCGGGCCATCAACCAGCGCCTGCTGGCC[G/A]AGGAGCTCCACAGGGCAGCCATTCAGGgta 18328141 chr16 3306126 3309535 MEFV F chr16_3309197_3309452_11010_2 1 chr16 3306464 3306465 CM012149 - 1 DM rs61754767 MEFV Mediterranean fever: familial AGTGTGCAGAAGGAGCACTCCAGGATCCCC[C/T]GGAGCCAGATCCAGAGAGCCAGGCCGGTGA 11464238 chr16 3306126 3309535 MEFV F chr16_3309197_3309452_11010_2 1 chr16 3306563 3306564 CM055429 - 1 DM rs104895146 MEFV Mediterranean fever: familial agcaccATGGCTAAGACCCCTAGTGACCAT[C/T]TGCTGTCCACCCTGGAGGAGCTGGTGCCCT LSDB chr16 3306126 3309535 MEFV F chr16_3309197_3309452_11010_2 1 chr16 3306599 3306600 CR055627 - 3 DM rs104895148 MEFV Mediterranean fever: familial CAGAAGCCAGACAGCTGGCTCGAGCCTCTC[C/G]TGCTCAGCACCATGGCTAAGACCCCTAGTG LSDB chr16 3306126 3309535 MEFV F chr16_3309197_3309452_11010_2 1 chr16 3306917 3306918 CR077767 - 3 DM? rs11466013 MEFV Mediterranean fever: familial GGCAGGAAGGAAGATTGGAGGGGGTGTCTG[G/A]AATCCAATCCCAGACCTTCCCTTGCAGACT LSDB chr16 3306126 3309535 MEFV F chr16_3309197_3309452_11010_2 1 chr16 3306969 3306970 CR077768 - 3 DM NULL MEFV Mediterranean fever: familial TCAGCATAGTCCTCTCTGTTCCCACTCACC[C/G]GCTCTGCCAGCCCCAGATCCTGGCAGGAAG LSDB chr16 3306126 3309535 MEFV F chr16_3309197_3309452_11010_2 1 chr16 3306969 3306970 CR096503 - 3 FP NULL MEFV Increased activity TCAGCATAGTCCTCTCTGTTCCCACTCACC[C/T]GCTCTGCCAGCCCCAGATCCTGGCAGGAAG 19262573 chr16 3306126 3309535 MEFV F chr16_3309197_3309452_11010_2 1 chr16 3307201 3307202 CR077766 - 3 DM? rs11466012 MEFV Mediterranean fever: familial ATGTGGCTGGAAGAACCAGTCAACTGGAAC[C/G]GGATCAACAGGGGTGATGGCATGGCAAGAG LSDB chr16 3306126 3310252 MEFV F chr16_3309927_3310094_10000_2 1 chr16 3306323 3306324 CM045302 - 1 DM rs104895124 MEFV Mediterranean fever: familial CAGCGCCTGCTGGCCGAGGAGCTCCACAGG[G/A]CAGCCATTCAGGgtaagcgggcccaggcct 14985395 chr16 3306126 3310252 MEFV F chr16_3309927_3310094_10000_2 1 chr16 3306338 3306339 CM085534 - 1 DM rs150819742 MEFV Mediterranean fever: familial CTGCGGGCCATCAACCAGCGCCTGCTGGCC[G/A]AGGAGCTCCACAGGGCAGCCATTCAGGgta 18328141 chr16 3306126 3310252 MEFV F chr16_3309927_3310094_10000_2 1 chr16 3306464 3306465 CM012149 - 1 DM rs61754767 MEFV Mediterranean fever: familial AGTGTGCAGAAGGAGCACTCCAGGATCCCC[C/T]GGAGCCAGATCCAGAGAGCCAGGCCGGTGA 11464238 chr16 3306126 3310252 MEFV F chr16_3309927_3310094_10000_2 1 chr16 3306563 3306564 CM055429 - 1 DM rs104895146 MEFV Mediterranean fever: familial agcaccATGGCTAAGACCCCTAGTGACCAT[C/T]TGCTGTCCACCCTGGAGGAGCTGGTGCCCT LSDB chr16 3306126 3310252 MEFV F chr16_3309927_3310094_10000_2 1 chr16 3306599 3306600 CR055627 - 3 DM rs104895148 MEFV Mediterranean fever: familial CAGAAGCCAGACAGCTGGCTCGAGCCTCTC[C/G]TGCTCAGCACCATGGCTAAGACCCCTAGTG LSDB chr16 3306126 3310252 MEFV F chr16_3309927_3310094_10000_2 1 chr16 3306917 3306918 CR077767 - 3 DM? rs11466013 MEFV Mediterranean fever: familial GGCAGGAAGGAAGATTGGAGGGGGTGTCTG[G/A]AATCCAATCCCAGACCTTCCCTTGCAGACT LSDB chr16 3306126 3310252 MEFV F chr16_3309927_3310094_10000_2 1 chr16 3306969 3306970 CR077768 - 3 DM NULL MEFV Mediterranean fever: familial TCAGCATAGTCCTCTCTGTTCCCACTCACC[C/G]GCTCTGCCAGCCCCAGATCCTGGCAGGAAG LSDB chr16 3306126 3310252 MEFV F chr16_3309927_3310094_10000_2 1 chr16 3306969 3306970 CR096503 - 3 FP NULL MEFV Increased activity TCAGCATAGTCCTCTCTGTTCCCACTCACC[C/T]GCTCTGCCAGCCCCAGATCCTGGCAGGAAG 19262573 chr16 3306126 3310252 MEFV F chr16_3309927_3310094_10000_2 1 chr16 3307201 3307202 CR077766 - 3 DM? rs11466012 MEFV Mediterranean fever: familial ATGTGGCTGGAAGAACCAGTCAACTGGAAC[C/G]GGATCAACAGGGGTGATGGCATGGCAAGAG LSDB chr16 3309129 3309539 MEFV F chr16_3309197_3309452_11010_2 1 . -1 -1 . -1 . . . . . . . chr16 3309979 3310124 MEFV F chr16_3309197_3309452_11010_2:chr16_3309927_3310094_10000_2 2 . -1 -1 . -1 . . . . . . . chr16 3550768 3551400 CLUAP1 S chr16_4340308_4340553_10000_2 1 . -1 -1 . -1 . . . . . . . chr16 4321625 4322178 TFAP4 F chr16_4321891_4322082_11111_1:chr16_4323011_4323501_11111_3 2 . -1 -1 . -1 . . . . . . . chr16 4321701 4323501 TFAP4 F chr16_4321891_4322082_11111_1 1 . -1 -1 . -1 . . . . . . . chr16 4340200 4340811 CLUAP1 S chr16_3550856_3551077_10010_1 1 . -1 -1 . -1 . . . . . . . chr16 4587360 4587817 C16orf5 F chr16_4588498_4588971_11000_3:chr16_4588498_4589036_11000_3 2 . -1 -1 . -1 . . . . . . . chr16 8890963 8892400 PMM2 S chr16_8954043_8954377_10000_3 1 chr16 8891740 8891741 CM055485 + 1 DM NULL PMM2 Congenital disorder of glycosylation 1a tcttgtaaggtgcggctagaaactggggac[A/G]TGGCAGCGCCTGGCCCAGCGCTCTGCCTCT 18948042 chr16 8890963 8892400 PMM2 S chr16_8954043_8954377_10000_3 1 chr16 8891763 8891764 CD003640 + 5 DM NULL PMM2 Congenital disorder of glycosylation 1a TGGGGACATGGCAGCGCCTGGCCCAGCGCT[C/-]TGCCTCTTCGACGTGGATGGGACCCTCACC 11058895 chr16 8890963 8892400 PMM2 S chr16_8954043_8954377_10000_3 1 chr16 8891765 8891766 CM002090 + 1 DM rs104894532 PMM2 Congenital disorder of glycosylation 1a gggacATGGCAGCGCCTGGCCCAGCGCTCT[G/A]CCTCTTCGACGTGGATGGGACCCTCACCGC 10922383 chr16 8890963 8892400 PMM2 S chr16_8954043_8954377_10000_3 1 chr16 8891771 8891772 CM045428 + 1 DM NULL PMM2 Congenital disorder of glycosylation 1a TGGCAGCGCCTGGCCCAGCGCTCTGCCTCT[T/G]CGACGTGGATGGGACCCTCACCGCCCCGCG 16009061 chr16 8890963 8892400 PMM2 S chr16_8954043_8954377_10000_3 1 chr16 8891771 8891772 CP005304 + 4 DM NULL PMM2 Congenital disorder of glycosylation 1a TGGCAGCGCCTGGCCCAGCGCTCTGCCTCT[TC/GT]GACGTGGATGGGACCCTCACCGCCCCGCGG 11058896 chr16 8890963 8892400 PMM2 S chr16_8954043_8954377_10000_3 1 chr16 8891782 8891783 CM022443 + 1 DM NULL PMM2 Congenital disorder of glycosylation 1a GGCCCAGCGCTCTGCCTCTTCGACGTGGAT[G/C]GGACCCTCACCGCCCCGCGGCAGgtaagtg 12357336 chr16 8890963 8892400 PMM2 S chr16_8954043_8954377_10000_3 1 chr16 8891783 8891784 CM055489 + 1 DM NULL PMM2 Congenital disorder of glycosylation 1a GCCCAGCGCTCTGCCTCTTCGACGTGGATG[G/A]GACCCTCACCGCCCCGCGGCAGgtaagtgg 12626389 chr16 8890963 8892400 PMM2 S chr16_8954043_8954377_10000_3 1 chr16 8891783 8891784 CM055490 + 1 DM NULL PMM2 Congenital disorder of glycosylation 1a GCCCAGCGCTCTGCCTCTTCGACGTGGATG[G/C]GACCCTCACCGCCCCGCGGCAGgtaagtgg 19862844 chr16 8890963 8892400 PMM2 S chr16_8954043_8954377_10000_3 1 chr16 8891792 8891793 CM051971 + 1 DM NULL PMM2 Congenital disorder of glycosylation 1a TCTGCCTCTTCGACGTGGATGGGACCCTCA[C/G]CGCCCCGCGGCAGgtaagtggcggccggcg 15844218 chr16 8890963 8892400 PMM2 S chr16_8954043_8954377_10000_3 1 chr16 8891797 8891798 CM051972 + 1 DM NULL PMM2 Congenital disorder of glycosylation 1a CTCTTCGACGTGGATGGGACCCTCACCGCC[C/T]CGCGGCAGgtaagtggcggccggcgggctg 15844218 chr16 8890963 8892400 PMM2 S chr16_8954043_8954377_10000_3 1 chr16 8891800 8891801 CM055488 + 1 DM NULL PMM2 Congenital disorder of glycosylation 1a TTCGACGTGGATGGGACCCTCACCGCCCCG[C/G]GGCAGgtaagtggcggccggcgggctgctg 19862844 chr16 8890963 8892400 PMM2 S chr16_8954043_8954377_10000_3 1 chr16 8891803 8891804 CM055487 + 1 DM NULL PMM2 Congenital disorder of glycosylation 1a GACGTGGATGGGACCCTCACCGCCCCGCGG[C/T]AGgtaagtggcggccggcgggctgctggca 19862844 chr16 8890963 8892400 PMM2 S chr16_8954043_8954377_10000_3 1 chr16 8891806 8891807 CS052054 + 2 DM NULL PMM2 Congenital disorder of glycosylation 1a GTGGATGGGACCCTCACCGCCCCGCGGCAG[G/T]taagtggcggccggcgggctgctggcagcc 15844218 chr16 8953600 8954400 C16orf72 S chr16_9185062_9185551_11101_2 1 . -1 -1 . -1 . . . . . . . chr16 8953600 8954400 CARHSP1 S chr16_8960238_8960475_11000_2:chr16_8962534_8962682_11100_2 2 . -1 -1 . -1 . . . . . . . chr16 8953600 8954400 PMM2 S chr16_8891525_8891734_10000_3 1 . -1 -1 . -1 . . . . . . . chr16 8960238 8963332 CARHSP1 S chr16_8954043_8954377_10000_3 1 . -1 -1 . -1 . . . . . . . chr16 9056600 9057327 USP7 S chr16_8954043_8954377_10000_3 1 . -1 -1 . -1 . . . . . . . chr16 9184666 9187154 C16orf72 S chr16_8954043_8954377_10000_3 1 . -1 -1 . -1 . . . . . . . chr16 10672211 10672611 EMP2 F chr16_10674022_10674153_10010_1 1 . -1 -1 . -1 . . . . . . . chr16 10673040 10673400 EMP2 S chr16_10674022_10674153_10010_1 1 . -1 -1 . -1 . . . . . . . chr16 10973961 10974260 CIITA F chr16_10972647_10972830_10000_2:chr16_10973219_10973458_10000_1 2 . -1 -1 . -1 . . . . . . . chr16 11348998 11351744 SOCS1 S chr16_10360200_10360271_10000_3:chr16_10412666_10412932_11000_4:chr16_10546676_10546849_10000_1:chr16_10740625_10740840_10010_3:chr16_10741695_10741915_11000_3:chr16_11405633_11405775_10000_1 6 chr16 11350155 11350156 CR097876 - 3 DFP rs33977706 SOCS1 Reduced BMI: association with ACGCCACCGCGGAAAGAGAAACCAAAAGTG[G/T]AGCTGGGGGCGGGGCCGGCAGGGGGCGGGG 19215277 chr16 11349538 11352932 SOCS1 F chr16_11352748_11353134_11000_3 1 chr16 11350155 11350156 CR097876 - 3 DFP rs33977706 SOCS1 Reduced BMI: association with ACGCCACCGCGGAAAGAGAAACCAAAAGTG[G/T]AGCTGGGGGCGGGGCCGGCAGGGGGCGGGG 19215277 chr16 11352629 11352834 SOCS1 F chr16_11352748_11352932_11000_3 1 . -1 -1 . -1 . . . . . . . chr16 11677764 11678427 LITAF F chr16_11677895_11678150_11010_3:chr16_11677895_11678150_11010_3:chr16_11678553_11678718_10000_1:chr16_11678553_11678718_10000_1 4 . -1 -1 . -1 . . . . . . . chr16 11677895 11680729 LITAF F chr16_11677745_11678150_11010_3:chr16_11678553_11678718_10000_1 2 . -1 -1 . -1 . . . . . . . chr16 11677895 11681306 LITAF F chr16_11677745_11678150_11010_3:chr16_11678553_11678718_10000_1 2 . -1 -1 . -1 . . . . . . . chr16 11890330 11890418 ZC3H7A F chr16_11891174_11891340_11000_3 1 . -1 -1 . -1 . . . . . . . chr16 11894292 11894377 ZC3H7A F chr16_11891174_11891340_11000_3 1 . -1 -1 . -1 . . . . . . . chr16 12008580 12010921 GSPT1 S chr16_12737827_12738163_11000_3:chr16_12738929_12739199_10000_2 2 . -1 -1 . -1 . . . . . . . chr16 12737547 12739199 GSPT1 S chr16_12008580_12008699_10000_1:chr16_12009793_12010145_10000_1 2 . -1 -1 . -1 . . . . . . . chr16 13363335 13364579 ERCC4 S chr16_14013618_14013742_10000_1 1 . -1 -1 . -1 . . . . . . . chr16 14013292 14013384 ERCC4 S chr16_13363897_13364279_10000_3:chr16_14604477_14605208_11010_3:chr16_14639395_14639626_11000_3 3 . -1 -1 . -1 . . . . . . . chr16 14013503 14014624 ERCC4 S chr16_13363897_13364279_10000_3:chr16_14580089_14580413_10011_2:chr16_14604477_14605208_11010_3:chr16_14639395_14639626_11000_3 4 chr16 14013666 14013667 CR102187 + 3 DFP rs6498486 ERCC4 Bladder cancer: increased risk: association with CTTGAGGCTAGGGTGCCAGGGGATGTGGAA[A/C]CTCAAAAGAGACGTGAATGGAGCCTGATAT 20062074 chr16 14013503 14014624 ERCC4 S chr16_13363897_13364279_10000_3:chr16_14580089_14580413_10011_2:chr16_14604477_14605208_11010_3:chr16_14639395_14639626_11000_3 4 chr16 14014030 14014031 CM065149 + 1 DM rs148904556 ERCC4 Lung cancer: susceptibility to ggctgcgacccggaagagcttccATGGAGT[C/T]AGGGCAGCCGGCTCGACGGATTGCCATGGC 16550608 chr16 14013503 14014624 ERCC4 S chr16_13363897_13364279_10000_3:chr16_14580089_14580413_10011_2:chr16_14604477_14605208_11010_3:chr16_14639395_14639626_11000_3 4 chr16 14014038 14014039 CM065148 + 1 DM rs61760160 ERCC4 Lung cancer: susceptibility to cccggaagagcttccATGGAGTCAGGGCAG[C/T]CGGCTCGACGGATTGCCATGGCGCCGCTGC 16550608 chr16 14013503 14014624 ERCC4 S chr16_13363897_13364279_10000_3:chr16_14580089_14580413_10011_2:chr16_14604477_14605208_11010_3:chr16_14639395_14639626_11000_3 4 chr16 14014072 14014073 CM140895 + 1 DM? NULL ERCC4 Breast cancer CTCGACGGATTGCCATGGCGCCGCTGCTGG[A/T]GTACGAGCGACAGCTGGTGCTGGAACTGCT 24465539 chr16 14579891 14580600 ERCC4 S chr16_14013618_14013742_10000_1 1 . -1 -1 . -1 . . . . . . . chr16 14604434 14605806 ERCC4 S chr16_14013618_14013742_10000_1 1 . -1 -1 . -1 . . . . . . . chr16 14638685 14640029 ERCC4 S chr16_14013618_14013742_10000_1 1 . -1 -1 . -1 . . . . . . . chr16 15069619 15069687 PDXDC1 F chr16_15068785_15069027_00000_1 1 . -1 -1 . -1 . . . . . . . chr16 15575869 15576867 NDE1 S chr16_15736989_15737169_10000_1 1 . -1 -1 . -1 . . . . . . . chr16 15701433 15702817 NDE1 S chr16_15736989_15737169_10000_1 1 . -1 -1 . -1 . . . . . . . chr16 15735817 15737841 NDE1 S chr16_15576074_15576460_10000_3:chr16_15701488_15702038_10000_2:chr16_15702323_15702657_10000_3 3 . -1 -1 . -1 . . . . . . . chr16 16090229 16090995 NDE1 S chr16_15736989_15737169_10000_1 1 . -1 -1 . -1 . . . . . . . chr16 19532119 19532450 CCP110 F chr16_19535091_19535256_11110_2 1 . -1 -1 . -1 . . . . . . . chr16 19894494 19895110 GPRC5B F chr16_19896551_19896651_10000_1 1 . -1 -1 . -1 . . . . . . . chr16 20908616 20912061 DCUN1D3 F chr16_20908710_20908947_11111_2 1 . -1 -1 . -1 . . . . . . . chr16 20908616 20912575 LYRM1 F chr16_20908710_20908947_11111_2 1 . -1 -1 . -1 . . . . . . . chr16 20908672 20908960 DCUN1D3 F chr16_20908710_20908947_11111_2:chr16_20909692_20909852_11010_2:chr16_20911657_20911921_11111_2 3 . -1 -1 . -1 . . . . . . . chr16 20908672 20908960 LYRM1 F chr16_20908710_20908947_11111_2:chr16_20909692_20909852_11010_2:chr16_20911657_20911921_11111_2 3 . -1 -1 . -1 . . . . . . . chr16 20913163 20913441 DCUN1D3 F chr16_20911657_20911921_11111_2:chr16_20912610_20912792_10000_1 2 . -1 -1 . -1 . . . . . . . chr16 20913163 20913441 LYRM1 F chr16_20911657_20911921_11111_2:chr16_20912610_20912792_10000_1 2 . -1 -1 . -1 . . . . . . . chr16 20915885 20916169 LYRM1 F chr16_20911657_20911921_11111_2:chr16_20912610_20912792_10000_1 2 . -1 -1 . -1 . . . . . . . chr16 21512957 21514010 ENSG00000180747 S chr16_22364722_22364941_10000_2:chr16_22365423_22365742_10000_2 2 . -1 -1 . -1 . . . . . . . chr16 21610355 21612099 METTL9 F chr16_21611886_21612108_11111_1 1 . -1 -1 . -1 . . . . . . . chr16 21611842 21611954 METTL9 F chr16_21610794_21610936_11101_1:chr16_21611886_21612099_11111_1 2 . -1 -1 . -1 . . . . . . . chr16 21661795 21664487 IGSF6 F chr16_21661994_21662119_10000_1 1 . -1 -1 . -1 . . . . . . . chr16 21661880 21662110 IGSF6 F chr16_21661994_21662119_10000_1 1 . -1 -1 . -1 . . . . . . . chr16 21662227 21664487 IGSF6 F chr16_21661994_21662119_10000_1 1 . -1 -1 . -1 . . . . . . . chr16 21962052 21962800 7791 S chr16_22309339_22309516_11101_1 1 . -1 -1 . -1 . . . . . . . chr16 21962052 21962800 ENSG00000180747 S chr16_21512957_21513090_10000_2:chr16_21513507_21513831_00000_1 2 . -1 -1 . -1 . . . . . . . chr16 22110048 22110423 CRYM S chr16_21311994_21312068_00000_1:chr16_21312762_21312926_00000_1 2 . -1 -1 . -1 . . . . . . . chr16 22221382 22221539 EEF2K F chr16_22217322_22217606_11111_2 1 . -1 -1 . -1 . . . . . . . chr16 22308082 22310058 7791 S chr16_22364722_22364941_10000_2:chr16_22365423_22365742_10000_2 2 . -1 -1 . -1 . . . . . . . chr16 22310525 22310617 7791 S chr16_22364722_22364941_10000_2:chr16_22365423_22365742_10000_2 2 . -1 -1 . -1 . . . . . . . chr16 22364465 22365800 7791 S chr16_22309339_22309516_11101_1 1 . -1 -1 . -1 . . . . . . . chr16 22364465 22365800 ENSG00000180747 S chr16_21512957_21513090_10000_2:chr16_21513507_21513831_00000_1 2 . -1 -1 . -1 . . . . . . . chr16 27324750 27327341 IL4R F chr16_27326606_27327424_11111_3 1 . -1 -1 . -1 . . . . . . . chr16 27326906 27327374 IL4R F chr16_27324750_27324975_11101_3:chr16_27325733_27326062_11000_2:chr16_27326485_27327341_11111_3 3 . -1 -1 . -1 . . . . . . . chr16 28560874 28561200 SPNS1 S chr16_28985982_28986114_11111_1 1 . -1 -1 . -1 . . . . . . . chr16 29732800 29733140 SPNS1 S chr16_28985982_28986114_11111_1 1 . -1 -1 . -1 . . . . . . . chr16 29740463 29740649 SPNS1 S chr16_28985982_28986114_11111_1 1 . -1 -1 . -1 . . . . . . . chr16 29823200 29823369 ALDOA S chr16_30076887_30077119_11010_1 1 . -1 -1 . -1 . . . . . . . chr16 29830891 29831200 ALDOA S chr16_30076887_30077119_11010_1 1 . -1 -1 . -1 . . . . . . . chr16 30383396 30383957 MYLPF F chr16_30385172_30385363_10000_1 1 . -1 -1 . -1 . . . . . . . chr16 30421061 30421200 HSD3B7 S chr16_30997175_30997396_10111_2 1 . -1 -1 . -1 . . . . . . . chr16 30456723 30459245 SEPHS2 F chr16_30458843_30459289_11011_3 1 . -1 -1 . -1 . . . . . . . chr16 30458943 30459145 SEPHS2 F chr16_30457194_30457670_11011_3:chr16_30458843_30459245_11011_3 2 . -1 -1 . -1 . . . . . . . chr16 30482309 30482674 ITGAL F chr16_30483823_30484194_11000_3 1 . -1 -1 . -1 . . . . . . . chr16 30953430 30954023 HSD3B7 S chr16_30997175_30997396_10111_2 1 . -1 -1 . -1 . . . . . . . chr16 31125016 31129485 MYST1 F chr16_31125186_31125376_10111_2 1 . -1 -1 . -1 . . . . . . . chr16 31125100 31125333 MYST1 F chr16_31125186_31125376_10111_2:chr16_31129290_31129483_10111_2 2 . -1 -1 . -1 . . . . . . . chr16 31128484 31130121 MYST1 F chr16_31129316_31129483_10111_2 1 . -1 -1 . -1 . . . . . . . chr16 31129616 31130225 MYST1 F chr16_31129290_31129483_10111_2 1 . -1 -1 . -1 . . . . . . . chr16 46722259 46724286 VPS35 S chr16_46929935_46930162_11000_2 1 chr16 46723619 46723620 CM124028 + 1 DM rs146795505 ORC6 Meier-Gorlin syndrome cgggaattgttcgctttagtgccggcgccA[T/C]GGGGTCGGAGCTGATCGGGCGCCTAGCCCC 22333897 chr16 46916052 46919195 GPT2 S chr16_46929935_46930162_11000_2 1 . -1 -1 . -1 . . . . . . . chr16 46929411 46930800 DNAJA2 S chr16_47007498_47007781_10111_2 1 . -1 -1 . -1 . . . . . . . chr16 46929411 46930800 GPT2 S chr16_46916214_46916774_11000_3:chr16_46917737_46917997_11000_3 2 . -1 -1 . -1 . . . . . . . chr16 46929411 46930800 VPS35 S chr16_46723087_46723247_10000_1 1 . -1 -1 . -1 . . . . . . . chr16 47006516 47008031 DNAJA2 S chr16_46929935_46930162_11000_2 1 . -1 -1 . -1 . . . . . . . chr16 48417671 48419729 SIAH1 F chr16_48417430_48417808_10100_3:chr16_48418127_48418231_10101_1 2 . -1 -1 . -1 . . . . . . . chr16 48417730 48418013 SIAH1 F chr16_48417671_48417808_10100_3:chr16_48418127_48418231_10101_1 2 . -1 -1 . -1 . . . . . . . chr16 48643619 48645918 N4BP1 F chr16_48645760_48645874_10001_1 1 . -1 -1 . -1 . . . . . . . chr16 48645394 48646040 N4BP1 F chr16_48644119_48644239_11101_1:chr16_48645760_48645874_10001_1 2 . -1 -1 . -1 . . . . . . . chr16 48646666 48646732 N4BP1 F chr16_48644119_48644239_11101_1:chr16_48645760_48645874_10001_1 2 . -1 -1 . -1 . . . . . . . chr16 48646959 48647547 N4BP1 F chr16_48644119_48644239_11101_1:chr16_48645760_48645874_10001_1 2 . -1 -1 . -1 . . . . . . . chr16 50729249 50729875 NOD2 F chr16_50729635_50729822_10000_2 1 . -1 -1 . -1 . . . . . . . chr16 50729362 50731550 NOD2 F chr16_50729635_50729822_10000_2 1 . -1 -1 . -1 . . . . . . . chr16 50774747 50775040 CYLD F chr16_50775530_50776126_11101_2:chr16_50775530_50776126_11101_2:chr16_50776441_50776461_11100_1:chr16_50776441_50776529_11100_1 4 . -1 -1 . -1 . . . . . . . chr16 51182469 51185008 SALL1 F chr16_51182583_51182796_11110_2 1 . -1 -1 . -1 . . . . . . . chr16 51182469 51185683 SALL1 F chr16_51182583_51182796_11110_2 1 . -1 -1 . -1 . . . . . . . chr16 51182471 51182868 SALL1 F chr16_51182583_51182796_11110_2:chr16_51182583_51182796_11110_2:chr16_51185306_51185683_11111_2 3 . -1 -1 . -1 . . . . . . . chr16 51183106 51183414 SALL1 F chr16_51185306_51185683_11111_2 1 . -1 -1 . -1 . . . . . . . chr16 55602137 55602452 CAPNS2 F chr16_55601451_55601568_10000_1 1 . -1 -1 . -1 . . . . . . . chr16 56550060 56550247 BBS2 F chr16_56553959_56554077_10000_1 1 . -1 -1 . -1 . . . . . . . chr16 56641054 56641530 MT2A F chr16_56641092_56641415_11010_3:chr16_56642177_56642584_11010_1 2 . -1 -1 . -1 . . . . . . . chr16 56641092 56642978 MT2A F chr16_56640754_56641415_11010_3 1 chr16 56642491 56642492 CR066330 + 3 DFP rs28366003 MT2A Cellular response to cadmium: association with TCTAGCTATAAACACTGCTTGCCGCGCTGC[A/G]CTCCACCACGCCTCCTCCAAGTCCCAGCGA 16927099 chr16 56641977 56645881 MT2A F chr16_56645370_56645865_11010_3 1 chr16 56642491 56642492 CR066330 + 3 DFP rs28366003 MT2A Cellular response to cadmium: association with TCTAGCTATAAACACTGCTTGCCGCGCTGC[A/G]CTCCACCACGCCTCCTCCAAGTCCCAGCGA 16927099 chr16 56645516 56645845 MT2A F chr16_56642177_56642584_11010_1:chr16_56644272_56644903_11010_4:chr16_56645370_56645865_11010_3 3 . -1 -1 . -1 . . . . . . . chr16 56998298 56998535 ENSG00000140859 S chr16_57816642_57816946_10000_3 1 . -1 -1 . -1 . . . . . . . chr16 57079422 57079877 ENSG00000140859 S chr16_57816642_57816946_10000_3 1 . -1 -1 . -1 . . . . . . . chr16 57411000 57412140 C16orf80 S chr16_58163269_58163797_11111_2 1 . -1 -1 . -1 . . . . . . . chr16 57411000 57412140 CX3CL1 S chr16_57406059_57406315_10000_1:chr16_57406690_57406970_10000_2 2 . -1 -1 . -1 . . . . . . . chr16 57411000 57412140 ENSG00000140854 S chr16_57769072_57769452_10111_3:chr16_57770836_57771026_10000_2 2 . -1 -1 . -1 . . . . . . . chr16 57411000 57412140 ENSG00000140859 S chr16_57816642_57816946_10000_3 1 . -1 -1 . -1 . . . . . . . chr16 57411000 57412140 HERPUD1 S chr16_56965773_56966045_11110_3:chr16_56966941_56967202_11110_3 2 . -1 -1 . -1 . . . . . . . chr16 57411000 57412140 MMP15 S chr16_58058519_58059091_11110_2:chr16_58059343_58059714_11100_1 2 . -1 -1 . -1 . . . . . . . chr16 57451214 57452281 ENSG00000140859 S chr16_57816642_57816946_10000_3 1 . -1 -1 . -1 . . . . . . . chr16 57510028 57510200 C16orf80 S chr16_58163269_58163797_11111_2 1 . -1 -1 . -1 . . . . . . . chr16 57701111 57701632 GPR97 F chr16_57701344_57701574_10000_1 1 . -1 -1 . -1 . . . . . . . chr16 57701171 57702657 GPR97 F chr16_57701344_57701574_10000_1 1 . -1 -1 . -1 . . . . . . . chr16 57815600 57817081 ENSG00000140859 S chr16_57451214_57451235_10001_1:chr16_57451925_57452172_10000_2 2 . -1 -1 . -1 . . . . . . . chr16 57843782 57845046 C16orf80 S chr16_58163269_58163797_11111_2 1 . -1 -1 . -1 . . . . . . . chr16 58159860 58159971 C16orf80 F chr16_58160643_58161181_11111_3:chr16_58162142_58162380_11101_4:chr16_58163269_58163796_11111_2 3 . -1 -1 . -1 . . . . . . . chr16 58160772 58161211 C16orf80 F chr16_58160791_58161181_11111_3:chr16_58162142_58162380_11101_4:chr16_58163269_58163796_11111_2 3 . -1 -1 . -1 . . . . . . . chr16 58160791 58163796 C16orf80 F chr16_58160643_58161181_11111_3 1 . -1 -1 . -1 . . . . . . . chr16 58162643 58163797 C16orf80 S chr16_57844220_57844480_11000_2 1 . -1 -1 . -1 . . . . . . . chr16 58521470 58521680 ENSG00000140859 S chr16_57816642_57816946_10000_3 1 . -1 -1 . -1 . . . . . . . chr16 67030255 67034916 CES4A F chr16_67030358_67030622_11000_4 1 . -1 -1 . -1 . . . . . . . chr16 67030331 67030579 CES4A F chr16_67030358_67030622_11000_4 1 . -1 -1 . -1 . . . . . . . chr16 67150400 67151167 EDC4 S chr16_67906784_67907019_10101_1 1 . -1 -1 . -1 . . . . . . . chr16 67150400 67151167 LCAT S chr16_67976830_67977556_11111_3:chr16_67977932_67978202_11111_1 2 . -1 -1 . -1 . . . . . . . chr16 67150400 67151167 NFATC3 S chr16_68118177_68118358_11010_1:chr16_68118603_68118919_11101_2:chr16_68119918_68120034_11000_1 3 . -1 -1 . -1 . . . . . . . chr16 67479484 67479800 LCAT S chr16_67976830_67977556_11111_3:chr16_67977932_67978202_11111_1 2 . -1 -1 . -1 . . . . . . . chr16 67513836 67514185 ATP6V0D1 F chr16_67515013_67515295_11111_1 1 . -1 -1 . -1 . . . . . . . chr16 67875545 67877461 NUTF2 S chr16_67891800_67892040_10000_3 1 . -1 -1 . -1 . . . . . . . chr16 67880179 67881895 NUTF2 S chr16_67891800_67892040_10000_3 1 . -1 -1 . -1 . . . . . . . chr16 67891800 67892600 EDC4 S chr16_67906784_67907019_10101_1 1 . -1 -1 . -1 . . . . . . . chr16 67891800 67892600 ESRP2 S chr16_68269988_68270270_11111_1:chr16_68271426_68271678_11111_2 2 . -1 -1 . -1 . . . . . . . chr16 67891800 67892600 LCAT S chr16_67976830_67977556_11111_3:chr16_67977932_67978202_11111_1 2 . -1 -1 . -1 . . . . . . . chr16 67891800 67892600 NFATC3 S chr16_68118177_68118358_11010_1:chr16_68118603_68118919_11101_2:chr16_68119918_68120034_11000_1 3 . -1 -1 . -1 . . . . . . . chr16 67891800 67892600 NUTF2 S chr16_67876921_67877117_10100_1:chr16_67880592_67880800_10111_1 2 . -1 -1 . -1 . . . . . . . chr16 67891800 67892600 SLC7A6 S chr16_68299200_68299336_11101_1 1 . -1 -1 . -1 . . . . . . . chr16 67906698 67907604 EDC4 S chr16_67150596_67151046_10000_2:chr16_67891800_67892040_10000_3 2 . -1 -1 . -1 . . . . . . . chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976400 67976401 CM044018 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency ATGGGAAGCCTGTCTTCCTCATTGGCCACA[G/A]CCTCGGCTGTCTACACTTGCTCTATTTCCT 15150357 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976407 67976408 CM113967 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency GCTGCCTATGGGAAGCCTGTCTTCCTCATT[G/C]GCCACAGCCTCGGCTGTCTACACTTGCTCT 21597230 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976409 67976410 CI076962 - 6 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency ACGCTGCCTATGGGAAGCCTGTCTTCCTCA[-/A]TTGGCCACAGCCTCGGCTGTCTACACTTGC 17439325 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976409 67976410 CM023637 - 1 DM rs376973514 LCAT Reduced high density lipoprotein-cholesterol ACGCTGCCTATGGGAAGCCTGTCTTCCTCA[T/C]TGGCCACAGCCTCGGCTGTCTACACTTGCT 12048121 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976429 67976430 CM973684 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency AGGGCTGGTGGAGGAGATGCACGCTGCCTA[T/G]GGGAAGCCTGTCTTCCTCATTGGCCACAGC 9180249 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976438 67976439 CD951764 - 5 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency CAAGCTCGCAGGGCTGGTGGAGGAGATGCA[C/-]GCTGCCTATGGGAAGCCTGTCTTCCTCATT 7658165 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976470 67976471 CM930466 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency cccgctgcagGCCAGCAGGAGGAGTACTAC[C/T]GCAAGCTCGCAGGGCTGGTGGAGGAGATGC 8432868 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976476 67976477 CM930465 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency cttccacccgctgcagGCCAGCAGGAGGAG[T/A]ACTACCGCAAGCTCGCAGGGCTGGTGGAGG 8445342 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976512 67976513 CS961608 - 2 DM NULL LCAT Fish eye disease tggggcaggtgccccagaccccagctgccc[T/C]gaccccttccacccgctgcagGCCAGCAGG 8755645 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976586 67976587 CM900150 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency GAGACTGTGCGCGCCGCCCCCTATGACTGG[C/T]GGCTGGAGCCCGgtgagtgtctctgcggat 2370048 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976594 67976595 CM962678 - 1 DM NULL LCAT Fish eye disease TGCGGGACGAGACTGTGCGCGCCGCCCCCT[A/G]TGACTGGCGGCTGGAGCCCGgtgagtgtct 8820100 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976597 67976598 CM041788 - 1 DP NULL LCAT Dyslipidaemia: risk: association with ACGTGCGGGACGAGACTGTGCGCGCCGCCC[C/T]CTATGACTGGCGGCTGGAGCCCGgtgagtg 15110745 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976603 67976604 CI910574 - 6 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency ATGGCTACGTGCGGGACGAGACTGTGCGCG[-/GCG]CCGCCCCCTATGACTGGCGGCTGGAGCCCG 1681161 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976603 67976604 CM910251 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency ATGGCTACGTGCGGGACGAGACTGTGCGCG[C/G]CGCCCCCTATGACTGGCGGCTGGAGCCCGg 1681161 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976604 67976605 CM058321 - 1 DM? NULL LCAT Lecithin:cholesterol acyltransferase deficiency AATGGCTACGTGCGGGACGAGACTGTGCGC[G/A]CCGCCCCCTATGACTGGCGGCTGGAGCCCG 15994445 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976606 67976607 CM950748 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency ACAATGGCTACGTGCGGGACGAGACTGTGC[G/A]CGCCGCCCCCTATGACTGGCGGCTGGAGCC 7607641 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976607 67976608 CM043857 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency AACAATGGCTACGTGCGGGACGAGACTGTG[C/T]GCGCCGCCCCCTATGACTGGCGGCTGGAGC 15256764 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976608 67976609 CD992520 - 5 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency TCAACAATGGCTACGTGCGGGACGAGACTG[TG/-]CGCGCCGCCCCCTATGACTGGCGGCTGGAG 10487497 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976621 67976622 CM960926 - 1 DM NULL LCAT Fish eye disease TGCAGAACCTGGTCAACAATGGCTACGTGC[G/A]GGACGAGACTGTGCGCGCCGCCCCCTATGA 8620346 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976622 67976623 CM930464 - 1 DM rs28940887 LCAT Lecithin:cholesterol acyltransferase deficiency GTGCAGAACCTGGTCAACAATGGCTACGTG[C/T]GGGACGAGACTGTGCGCGCCGCCCCCTATG 8432868 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976634 67976635 CM950747 - 1 DM rs121908057 LCAT Lecithin:cholesterol acyltransferase deficiency CTGCACACACTGGTGCAGAACCTGGTCAAC[A/G]ATGGCTACGTGCGGGACGAGACTGTGCGCG 8675648 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976657 67976658 CM910250 - 1 DM rs121908050 LCAT Lecithin:cholesterol acyltransferase deficiency ctgctggtccccccacagGGTACCTGCACA[C/T]ACTGGTGCAGAACCTGGTCAACAATGGCTA 2052566 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976665 67976666 CX973696 - 4 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency CCCCCGGTGCTGCTGGTCCCCCCACAGGGT[AC/T]CTGCACACACTGGTGCAGAACCTGGTCAAC 9162740 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976788 67976789 CM117828 - 1 DM NULL LCAT Reduced plasma HDL cholesterol CCTGGCTTTGGCAAGACCTACTCTGTGGAG[T/A]ACCTGGACAGCAGCAAGCTGGCAGgtttgt 21875686 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976788 67976789 CX119390 - 4 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency CCCTGGCTTTGGCAAGACCTACTCTGTGGA[GT/TA]ACCTGGACAGCAGCAAGCTGGCAGGTTTGT 21901787 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976789 67976790 BM1127416 - 1 DM NULL LCAT Reduced plasma HDL cholesterol CCCTGGCTTTGGCAAGACCTACTCTGTGGA[G/T]TACCTGGACAGCAGCAAGCTGGCAGgtttg 21875686 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976803 67976804 CM086846 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency GTCCAGATCCGCGTCCCTGGCTTTGGCAAG[A/G]CCTACTCTGTGGAGTACCTGGACAGCAGCA 18397721 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976809 67976810 CM045660 - 1 DM rs199560940 LCAT Reduced high density lipoprotein-cholesterol CCTGGTGTCCAGATCCGCGTCCCTGGCTTT[G/A]GCAAGACCTACTCTGTGGAGTACCTGGACA 15297675 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976824 67976825 CM043856 - 1 DM rs140068549 LCAT Fish eye disease CTCGTGTCCAACGCCCCTGGTGTCCAGATC[C/T]GCGTCCCTGGCTTTGGCAAGACCTACTCTG 9261271 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976842 67976843 CM930463 - 1 DM rs28940886 LCAT Lecithin:cholesterol acyltransferase deficiency TACAACCGGAGCTCTGGGCTCGTGTCCAAC[G/A]CCCCTGGTGTCCAGATCCGCGTCCCTGGCT 8432868 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976848 67976849 CM058320 - 1 DM? NULL LCAT Lecithin:cholesterol acyltransferase deficiency GTTGTCTACAACCGGAGCTCTGGGCTCGTG[T/C]CCAACGCCCCTGGTGTCCAGATCCGCGTCC 15994445 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976851 67976852 CM140963 - 1 DM rs35673026 LCAT Increased HDL cholesterol levels agGGTTGTCTACAACCGGAGCTCTGGGCTC[G/A]TGTCCAACGCCCCTGGTGTCCAGATCCGCG 24507774 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976870 67976871 CM930462 - 1 DM rs121908055 LCAT Lecithin:cholesterol acyltransferase deficiency agtggcacccccgccccgcagGGTTGTCTA[C/A]AACCGGAGCTCTGGGCTCGTGTCCAACGCC 8432868 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976969 67976970 CM086845 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency TTCCTACCCCTTGGGGTAGACTGCTGGATC[G/A]ATAACACCAGgtacagccatgtgctccacc 18397721 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976974 67976975 CM119387 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency ACATGTTCCTACCCCTTGGGGTAGACTGCT[G/C]GATCGATAACACCAGgtacagccatgtgct 21901787 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976975 67976976 CM074914 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency AACATGTTCCTACCCCTTGGGGTAGACTGC[T/C]GGATCGATAACACCAGgtacagccatgtgc 17526537 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976984 67976985 CD984654 - 5 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency GCTGGATCTCAACATGTTCCTACCCCTTGG[GG/-]TAGACTGCTGGATCGATAACACCAGGTACA 9746267 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67976987 67976988 CM066907 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency TGGCTGGATCTCAACATGTTCCTACCCCTT[G/C]GGGTAGACTGCTGGATCGATAACACCAGgt 16216249 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67977016 67977017 CM045659 - 1 DM NULL LCAT Reduced high density lipoprotein-cholesterol ACCGCAAGACAGAGGACTTCTTCACCATCT[G/A]GCTGGATCTCAACATGTTCCTACCCCTTGG 15297675 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67977049 67977050 CM133453 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency TGGACAAACCAGATGTGGTGAACTGGATGT[G/A]CTACCGCAAGACAGAGGACTTCTTCACCAT 23522979 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67977061 67977062 CM053949 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency TAGAAGCCAAGCTGGACAAACCAGATGTGG[T/A]GAACTGGATGTGCTACCGCAAGACAGAGGA 15994445 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67977101 67977102 CM950746 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency gggctgctgctcacagTGCCCGGCTGCCTG[G/C]GGAATCAGCTAGAAGCCAAGCTGGACAAAC 7711728 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67977103 67977104 CM973683 - 1 DM NULL LCAT Fish eye disease gagggctgctgctcacagTGCCCGGCTGCC[T/C]GGGGAATCAGCTAGAAGCCAAGCTGGACAA 9180249 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67977110 67977111 CM960925 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency ccagagtgagggctgctgctcacagTGCCC[G/A]GCTGCCTGGGGAATCAGCTAGAAGCCAAGC 8807342 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67977851 67977852 CM074913 - 1 DM? NULL LCAT Lecithin:cholesterol acyltransferase deficiency CTCAGTAACCACACACGGCCCGTCATCCTC[G/A]gtaagcccccaccaggcccctgatgcacca 17452402 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67977860 67977864 CD044146 - 5 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency GCCCAAGGCTGAGCTCAGTAACCACACACG[GCCCG/-]TCATCCTCGGTAAGCCCCCACCAGGCCCCT 15150357 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67977895 67977896 CM983876 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency TCCTCAATGTGCTCTTCCCCCCGCACACCA[C/T]GCCCAAGGCTGAGCTCAGTAACCACACACG 9741700 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67977903 67977904 CD098959 - 5 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency CTTCTGGCTCCTCAATGTGCTCTTCCCCCC[G/-]CACACCACGCCCAAGGCTGAGCTCAGTAAC 19515369 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67977903 67977904 CI910573 - 6 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency CTTCTGGCTCCTCAATGTGCTCTTCCCCCC[-/C]GCACACCACGCCCAAGGCTGAGCTCAGTAA 1662503 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67977904 67977905 CM920399 - 1 DM rs121908051 LCAT Lecithin:cholesterol acyltransferase deficiency CCTTCTGGCTCCTCAATGTGCTCTTCCCCC[C/T]GCACACCACGCCCAAGGCTGAGCTCAGTAA 1571050 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67977904 67977905 CM960924 - 1 DM NULL LCAT Fish eye disease CCTTCTGGCTCCTCAATGTGCTCTTCCCCC[C/A]GCACACCACGCCCAAGGCTGAGCTCAGTAA 8620346 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67977919 67977920 CM960923 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency TCCCTCCTGCCGCCCCCTTCTGGCTCCTCA[A/T]TGTGCTCTTCCCCCCGCACACCACGCCCAA 9007616 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67977970 67977971 CM053947 - 1 DM? NULL LCAT Lecithin:cholesterol acyltransferase deficiency GGCCGCCCGGCTCCCCATGGCAGTGGGTGA[C/T]GCTGCTGCTGGGGCTGCTGCTCCCTCCTGC 15994445 chr16 67976400 67978800 LCAT S chr16_67150596_67151046_10000_2:chr16_67479484_67479599_11000_2:chr16_67891800_67892040_10000_3 3 chr16 67977974 67977975 CD054361 - 5 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency ATGGGGCCGCCCGGCTCCCCATGGCAGTGG[G/-]TGACGCTGCTGCTGGGGCTGCTGCTCCCTC 15994445 chr16 68001400 68003889 SLC12A4 S chr16_67150596_67151046_10000_2:chr16_67891800_67892040_10000_3 2 . -1 -1 . -1 . . . . . . . chr16 68112986 68113200 LCAT S chr16_67976830_67977556_11111_3:chr16_67977932_67978202_11111_1 2 . -1 -1 . -1 . . . . . . . chr16 68117899 68120061 NFATC3 S chr16_67150596_67151046_10000_2:chr16_67891800_67892040_10000_3:chr16_68123689_68123804_10000_1:chr16_68125655_68125765_11000_1:chr16_68130902_68131353_10000_3:chr16_68820661_68820888_11010_1 6 . -1 -1 . -1 . . . . . . . chr16 68123400 68124396 NFATC3 S chr16_68118177_68118358_11010_1:chr16_68118603_68118919_11101_2:chr16_68119918_68120034_11000_1 3 . -1 -1 . -1 . . . . . . . chr16 68124632 68124800 NFATC3 S chr16_68118177_68118358_11010_1:chr16_68118603_68118919_11101_2:chr16_68119918_68120034_11000_1 3 . -1 -1 . -1 . . . . . . . chr16 68125429 68125909 NFATC3 S chr16_68118177_68118358_11010_1:chr16_68118603_68118919_11101_2:chr16_68119918_68120034_11000_1 3 . -1 -1 . -1 . . . . . . . chr16 68130569 68131437 NFATC3 S chr16_68118177_68118358_11010_1:chr16_68118603_68118919_11101_2:chr16_68119918_68120034_11000_1 3 . -1 -1 . -1 . . . . . . . chr16 68268889 68272117 ESRP2 S chr16_67891800_67892040_10000_3 1 . -1 -1 . -1 . . . . . . . chr16 68269635 68271813 ESRP2 F chr16_68271426_68271678_11111_2 1 . -1 -1 . -1 . . . . . . . chr16 68271348 68271876 ESRP2 F chr16_68269988_68270270_11111_1:chr16_68271426_68271678_11111_2 2 . -1 -1 . -1 . . . . . . . chr16 68297818 68299792 SLC7A6 S chr16_67891800_67892040_10000_3 1 . -1 -1 . -1 . . . . . . . chr16 68302800 68303800 EDC4 S chr16_67906784_67907019_10101_1 1 . -1 -1 . -1 . . . . . . . chr16 68302800 68303800 NFATC3 S chr16_68118177_68118358_11010_1:chr16_68118603_68118919_11101_2:chr16_68119918_68120034_11000_1 3 . -1 -1 . -1 . . . . . . . chr16 68314901 68316219 LCAT S chr16_67976830_67977556_11111_3:chr16_67977932_67978202_11111_1 2 . -1 -1 . -1 . . . . . . . chr16 68314901 68316219 SLC7A6 S chr16_68299200_68299336_11101_1 1 . -1 -1 . -1 . . . . . . . chr16 68624648 68624978 SLC7A6 S chr16_68299200_68299336_11101_1 1 . -1 -1 . -1 . . . . . . . chr16 68820532 68821000 NFATC3 S chr16_68118177_68118358_11010_1:chr16_68118603_68118919_11101_2:chr16_68119918_68120034_11000_1 3 chr16 68820946 68820947 CR121020 + 3 DP rs9929218 CDH1 Colorectal cancer: increased risk: association with GAATGATTCAAAGGTTCTGAATTCCACAAC[G/A]GCTTTCCTGTGTTTTTGCAGCCAGATTCAG 21761138 chr16 69788219 69789103 NOB1 S chr16_69892947_69893255_11000_2 1 . -1 -1 . -1 . . . . . . . chr16 69790577 69791500 NOB1 F chr16_69788856_69788966_10100_1 1 . -1 -1 . -1 . . . . . . . chr16 69892138 69893602 NOB1 S chr16_69788856_69788966_10100_1 1 . -1 -1 . -1 . . . . . . . chr16 70284800 70285800 EXOSC6 S chr16_69432300_69432489_10111_1:chr16_69892947_69893255_11000_2:chr16_70453855_70453863_10010_1:chr16_70745366_70745613_11000_2 4 . -1 -1 . -1 . . . . . . . chr16 70451200 70451864 NFAT5 S chr16_69599330_69599474_10010_2:chr16_69599734_69599858_10010_1 2 . -1 -1 . -1 . . . . . . . chr16 71598561 71599800 RNU6-1061P S chr16_71606443_71606983_11101_3 1 . -1 -1 . -1 . . . . . . . chr16 71605874 71607744 RNU6-1061P S chr16_71598561_71599047_11000_2:chr16_71599427_71599722_11000_2 2 chr16 71606127 71606128 CM920662 - 1 DM rs118203915 TAT Tyrosinaemia 2 TTGTCAATAATCCATCAAACCCCTGTGGGT[C/G]AGTGTTCAGCAAACGTCATCTTCAGAAGAT 1357662 chr16 71605874 71607744 RNU6-1061P S chr16_71598561_71599047_11000_2:chr16_71599427_71599722_11000_2 2 chr16 71606137 71606138 CM087196 - 1 DM NULL TAT Tyrosinaemia 2 GCTTGTCTCATTGTCAATAATCCATCAAAC[C/T]CCTGTGGGTCAGTGTTCAGCAAACGTCATC 18945316 chr16 71605874 71607744 RNU6-1061P S chr16_71598561_71599047_11000_2:chr16_71599427_71599722_11000_2 2 chr16 71606193 71606194 CM981890 - 1 DM NULL TAT Tyrosinaemia 2 AGAAATCTTGGGAAATTGACCTGAAACAAC[T/G]GGAATATCTAATTGATGAAAAGACAGCTTG 9544843 chr16 71605874 71607744 RNU6-1061P S chr16_71598561_71599047_11000_2:chr16_71599427_71599722_11000_2 2 chr16 71606548 71606549 CM062007 - 1 DM NULL TAT Tyrosinaemia 2 CAAGTGGCTGCAGCCAAGCTATTGACCTTT[G/A]TTTAGCTGTGTTGGCCAACCCAGGGCAAAA 16574453 chr16 71605874 71607744 RNU6-1061P S chr16_71598561_71599047_11000_2:chr16_71599427_71599722_11000_2 2 chr16 71606553 71606554 CI087197 - 6 DM NULL TAT Tyrosinaemia 2 TCTGACAAGTGGCTGCAGCCAAGCTATTGA[-/A]CCTTTGTTTAGCTGTGTTGGCCAACCCAGG 18945316 chr16 71605874 71607744 RNU6-1061P S chr16_71598561_71599047_11000_2:chr16_71599427_71599722_11000_2 2 chr16 71607495 71607496 CM981889 - 1 DM NULL TAT Tyrosinaemia 2 cactcttttctttcagGCTTCCTATCCAGT[C/T]GGGAGGAGATTGCTTCTTATTACCACTGTC 9544843 chr16 71931018 71931097 KIAA0174 F chr16_71928945_71929240_11111_2 1 . -1 -1 . -1 . . . . . . . chr16 73089917 73093034 ZFHX3 F chr16_73089744_73090166_11111_4 1 . -1 -1 . -1 . . . . . . . chr16 73090044 73090191 ZFHX3 F chr16_73089917_73090166_11111_4:chr16_73090566_73090759_11111_1:chr16_73092884_73093034_11111_1 3 . -1 -1 . -1 . . . . . . . chr16 75273000 75273400 BCAR1 S chr16_75297918_75298028_10100_3 1 . -1 -1 . -1 . . . . . . . chr16 75273000 75273400 TMEM170A S chr16_75497247_75497466_10000_2:chr16_75498543_75498808_11000_2 2 . -1 -1 . -1 . . . . . . . chr16 75273000 75273400 ZNRF1 S chr16_75031885_75032237_10101_2 1 . -1 -1 . -1 . . . . . . . chr16 75289933 75290600 BCAR1 S chr16_75283985_75284159_10100_1 1 . -1 -1 . -1 . . . . . . . chr16 75289933 75290600 TMEM170A S chr16_75497247_75497466_10000_2:chr16_75498543_75498808_11000_2 2 . -1 -1 . -1 . . . . . . . chr16 75289933 75290600 ZNRF1 S chr16_75031885_75032237_10101_2 1 . -1 -1 . -1 . . . . . . . chr16 75295048 75295600 TMEM170A S chr16_75497247_75497466_10000_2:chr16_75498543_75498808_11000_2 2 . -1 -1 . -1 . . . . . . . chr16 79634121 79635850 MAF F chr16_79635351_79635719_10011_3:chr16_79636107_79636166_11110_1 2 . -1 -1 . -1 . . . . . . . chr16 79635433 79635866 MAF F chr16_79634596_79634800_11111_3:chr16_79635351_79635719_10011_3 2 . -1 -1 . -1 . . . . . . . chr16 80838768 80839127 CDYL2 F chr16_80838087_80838227_11000_2 1 . -1 -1 . -1 . . . . . . . chr16 81039905 81041719 CMC2 S chr16_81490477_81490844_11010_1:chr16_81491542_81491697_11000_3:chr16_81567735_81567976_11010_3 3 . -1 -1 . -1 . . . . . . . chr16 81069303 81070368 ATMIN S chr16_81490477_81490844_11010_1:chr16_81491542_81491697_11000_3:chr16_81567735_81567976_11010_3 3 . -1 -1 . -1 . . . . . . . chr16 81110196 81111425 C16orf46 S chr16_81567735_81567976_11010_3 1 . -1 -1 . -1 . . . . . . . chr16 81174601 81175254 PKD1L2 S chr16_81567735_81567976_11010_3 1 . -1 -1 . -1 . . . . . . . chr16 81476635 81476969 CMIP F chr16_81478373_81478502_10000_1 1 . -1 -1 . -1 . . . . . . . chr16 81490400 81492200 ATMIN S chr16_81069303_81069393_10000_2 1 . -1 -1 . -1 . . . . . . . chr16 81490400 81492200 CMC2 S chr16_81041143_81041298_10010_1 1 . -1 -1 . -1 . . . . . . . chr16 81566864 81568144 ATMIN S chr16_81069303_81069393_10000_2 1 . -1 -1 . -1 . . . . . . . chr16 81566864 81568144 CMC2 S chr16_81041143_81041298_10010_1 1 . -1 -1 . -1 . . . . . . . chr16 82068357 82070084 HSD17B2 F chr16_82069592_82069909_10101_2 1 . -1 -1 . -1 . . . . . . . chr16 82069809 82069958 HSD17B2 F chr16_82068464_82068895_10111_3:chr16_82069592_82069909_10101_2 2 . -1 -1 . -1 . . . . . . . chr16 82071348 82071461 HSD17B2 F chr16_82068464_82068895_10111_3:chr16_82069592_82069909_10101_2 2 . -1 -1 . -1 . . . . . . . chr16 85027718 85028800 GSE1 S chr16_85648681_85648880_11101_2 1 . -1 -1 . -1 . . . . . . . chr16 85062384 85062545 KIAA0513 F chr16_85061136_85061342_11100_1 1 . -1 -1 . -1 . . . . . . . chr16 85339540 85340400 GSE1 S chr16_85648681_85648880_11101_2 1 . -1 -1 . -1 . . . . . . . chr16 85648455 85648949 GSE1 S chr16_85028487_85028689_11000_2:chr16_85339792_85340019_10010_3 2 . -1 -1 . -1 . . . . . . . chr16 85933693 85934060 IRF8 F chr16_85932639_85932840_10101_1 1 . -1 -1 . -1 . . . . . . . chr16 87350274 87352022 ENSG00000131152 S chr16_87812732_87813059_10000_2:chr16_87889832_87890135_00000_1 2 . -1 -1 . -1 . . . . . . . chr16 87389212 87390000 CA5A S chr16_87970129_87970542_10111_4 1 . -1 -1 . -1 . . . . . . . chr16 87428069 87428246 MAP1LC3B S chr16_87669937_87670076_10000_2:chr16_87812732_87813059_10000_2:chr16_87875400_87875524_00000_2:chr16_87875702_87876044_00000_1:chr16_87876360_87876873_00000_1 5 . -1 -1 . -1 . . . . . . . chr16 87812219 87813181 CA5A S chr16_87970129_87970542_10111_4 1 . -1 -1 . -1 . . . . . . . chr16 87812219 87813181 ENSG00000131152 S chr16_87350528_87350675_10000_1:chr16_87351016_87351129_10011_1:chr16_87351861_87351959_10000_2 3 . -1 -1 . -1 . . . . . . . chr16 87875400 87877200 CA5A S chr16_87970129_87970542_10111_4 1 . -1 -1 . -1 . . . . . . . chr16 87883328 87885678 7797 S chr16_87415975_87416226_11010_2:chr16_87418419_87418554_10100_1 2 . -1 -1 . -1 . . . . . . . chr16 87883328 87885678 APRT S chr16_88878321_88878544_10000_2:chr16_88879042_88879102_10000_1 2 . -1 -1 . -1 . . . . . . . chr16 87883328 87885678 CA5A S chr16_87970129_87970542_10111_4 1 . -1 -1 . -1 . . . . . . . chr16 87883328 87885678 ENSG00000131152 S chr16_87350528_87350675_10000_1:chr16_87351016_87351129_10011_1:chr16_87351861_87351959_10000_2 3 . -1 -1 . -1 . . . . . . . chr16 87889800 87894800 APRT S chr16_88878321_88878544_10000_2:chr16_88879042_88879102_10000_1 2 . -1 -1 . -1 . . . . . . . chr16 87889800 87894800 CA5A S chr16_87970129_87970542_10111_4 1 . -1 -1 . -1 . . . . . . . chr16 87889800 87894800 ENSG00000131152 S chr16_87350528_87350675_10000_1:chr16_87351016_87351129_10011_1:chr16_87351861_87351959_10000_2 3 . -1 -1 . -1 . . . . . . . chr16 87889800 87894800 MVD S chr16_88729536_88729682_10111_1 1 . -1 -1 . -1 . . . . . . . chr16 87968603 87969119 CA5A S chr16_88554365_88555102_10110_3 1 . -1 -1 . -1 . . . . . . . chr16 87969233 87969416 CA5A S chr16_88554365_88555102_10110_3 1 . -1 -1 . -1 . . . . . . . chr16 87969509 87970679 CA5A S chr16_87812732_87813059_10000_2:chr16_87875400_87875524_00000_2:chr16_87875702_87876044_00000_1:chr16_87876360_87876873_00000_1:chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3:chr16_88555194_88555237_10110_3:chr16_88555676_88555804_10110_1:chr16_88684949_88685000_11111_2:chr16_88685200_88685265_11111_2:chr16_88829996_88830284_11000_3 11 . -1 -1 . -1 . . . . . . . chr16 87981759 87982021 BANP F chr16_87982589_87982968_10000_2 1 . -1 -1 . -1 . . . . . . . chr16 87984537 87989526 BANP F chr16_87989009_87989172_10000_1 1 . -1 -1 . -1 . . . . . . . chr16 87988913 87989737 BANP F chr16_87989009_87989172_10000_1:chr16_87989125_87989172_10000_1 2 . -1 -1 . -1 . . . . . . . chr16 87989125 87993977 BANP F chr16_87989009_87989172_10000_1 1 . -1 -1 . -1 . . . . . . . chr16 88520844 88522362 ZFPM1 S chr16_88554365_88555102_10110_3 1 . -1 -1 . -1 . . . . . . . chr16 88522800 88522852 CA5A S chr16_87970129_87970542_10111_4 1 . -1 -1 . -1 . . . . . . . chr16 88522944 88523200 CA5A S chr16_87970129_87970542_10111_4 1 . -1 -1 . -1 . . . . . . . chr16 88554049 88555102 APRT S chr16_88878321_88878544_10000_2:chr16_88879042_88879102_10000_1 2 . -1 -1 . -1 . . . . . . . chr16 88554049 88555102 CA5A S chr16_87970129_87970542_10111_4 1 . -1 -1 . -1 . . . . . . . chr16 88554049 88555102 MVD S chr16_88729536_88729682_10111_1 1 . -1 -1 . -1 . . . . . . . chr16 88554049 88555102 ZC3H18 S chr16_88636545_88636901_10101_1 1 . -1 -1 . -1 . . . . . . . chr16 88555194 88555804 ANKRD11 S chr16_89555531_89555769_10000_3 1 . -1 -1 . -1 . . . . . . . chr16 88555194 88555804 APRT S chr16_88878321_88878544_10000_2:chr16_88879042_88879102_10000_1 2 . -1 -1 . -1 . . . . . . . chr16 88555194 88555804 CA5A S chr16_87970129_87970542_10111_4 1 . -1 -1 . -1 . . . . . . . chr16 88636039 88637474 ZC3H18 S chr16_88554365_88555102_10110_3 1 . -1 -1 . -1 . . . . . . . chr16 88684651 88685000 APRT S chr16_88878321_88878544_10000_2:chr16_88879042_88879102_10000_1 2 . -1 -1 . -1 . . . . . . . chr16 88684651 88685000 CA5A S chr16_87970129_87970542_10111_4 1 . -1 -1 . -1 . . . . . . . chr16 88685200 88685400 ANKRD11 S chr16_89555531_89555769_10000_3 1 . -1 -1 . -1 . . . . . . . chr16 88685200 88685400 APRT S chr16_88878321_88878544_10000_2:chr16_88879042_88879102_10000_1 2 . -1 -1 . -1 . . . . . . . chr16 88685200 88685400 CA5A S chr16_87970129_87970542_10111_4 1 . -1 -1 . -1 . . . . . . . chr16 88716121 88718300 CYBA S chr16_87875400_87875524_00000_2:chr16_87875702_87876044_00000_1:chr16_87876360_87876873_00000_1:chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3:chr16_88684949_88685000_11111_2:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1:chr16_89612400_89612401_10000_1 9 chr16 88717357 88717360 CD001879 - 5 DM NULL CYBA Chronic granulomatous disease ACGAACAGGCGCTGGCGTCCGGCCTGAGTG[AGTG/-]CACGTCAGGGACGGTGGAGGCTGCAGCCTG 10914676 chr16 88716121 88718300 CYBA S chr16_87875400_87875524_00000_2:chr16_87875702_87876044_00000_1:chr16_87876360_87876873_00000_1:chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3:chr16_88684949_88685000_11111_2:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1:chr16_89612400_89612401_10000_1 9 chr16 88717362 88717363 CS137273 - 2 DM NULL CYBA Chronic granulomatous disease CAACGAACAGGCGCTGGCGTCCGGCCTGAg[T/G]gagtgcacgtcagggacggtggaggctgca 23910690 chr16 88716121 88718300 CYBA S chr16_87875400_87875524_00000_2:chr16_87875702_87876044_00000_1:chr16_87876360_87876873_00000_1:chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3:chr16_88684949_88685000_11111_2:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1:chr16_89612400_89612401_10000_1 9 chr16 88717395 88717396 CM001654 - 1 DM NULL CYBA Chronic granulomatous disease cgccATGGGGCAGATCGAGTGGGCCATGTG[G/A]GCCAACGAACAGGCGCTGGCGTCCGGCCTG 10914676 chr16 88716121 88718300 CYBA S chr16_87875400_87875524_00000_2:chr16_87875702_87876044_00000_1:chr16_87876360_87876873_00000_1:chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3:chr16_88684949_88685000_11111_2:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1:chr16_89612400_89612401_10000_1 9 chr16 88717396 88717397 CM004694 - 1 DM NULL CYBA Chronic granulomatous disease tcgccATGGGGCAGATCGAGTGGGCCATGT[G/A]GGCCAACGAACAGGCGCTGGCGTCCGGCCT 10910929 chr16 88716121 88718300 CYBA S chr16_87875400_87875524_00000_2:chr16_87875702_87876044_00000_1:chr16_87876360_87876873_00000_1:chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3:chr16_88684949_88685000_11111_2:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1:chr16_89612400_89612401_10000_1 9 chr16 88717415 88717416 CM001111 - 1 DM rs104894511 CYBA Chronic granulomatous disease tgtcccagccgggttcgtgtcgccATGGGG[C/T]AGATCGAGTGGGCCATGTGGGCCAACGAAC 10759707 chr16 88716121 88718300 CYBA S chr16_87875400_87875524_00000_2:chr16_87875702_87876044_00000_1:chr16_87876360_87876873_00000_1:chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3:chr16_88684949_88685000_11111_2:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1:chr16_89612400_89612401_10000_1 9 chr16 88717420 88717421 CM101767 - 1 DM NULL CYBA Chronic granulomatous disease agcagtgtcccagccgggttcgtgtcgccA[T/A]GGGGCAGATCGAGTGGGCCATGTGGGCCAA 20167518 chr16 88716121 88718300 CYBA S chr16_87875400_87875524_00000_2:chr16_87875702_87876044_00000_1:chr16_87876360_87876873_00000_1:chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3:chr16_88684949_88685000_11111_2:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1:chr16_89612400_89612401_10000_1 9 chr16 88718096 88718097 CR073543 - 3 DFP rs72811418 CYBA Essential hypertension: association with CACCACCCCCACGCCAGCCCCTGCCTCCCG[A/T]ACCCAGGCCGGACGTGACGGGGCCGTCCCT 17620958 chr16 88728775 88730554 MVD S chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3 2 . -1 -1 . -1 . . . . . . . chr16 88771579 88772211 RNF166 F chr16_88772799_88772956_10101_2:chr16_88772799_88772956_10101_2 2 . -1 -1 . -1 . . . . . . . chr16 88827400 88827564 CA5A S chr16_87970129_87970542_10111_4 1 . -1 -1 . -1 . . . . . . . chr16 88829800 88830600 CA5A S chr16_87970129_87970542_10111_4 1 . -1 -1 . -1 . . . . . . . chr16 88849988 88852159 PIEZO1 S chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3:chr16_89386846_89386955_10000_1 3 . -1 -1 . -1 . . . . . . . chr16 88876200 88876774 APRT S chr16_87875400_87875524_00000_2:chr16_87875702_87876044_00000_1:chr16_87876360_87876873_00000_1:chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1 7 chr16 88876201 88876202 CM012727 - 1 DM rs281860266 APRT Adenine phosphoribosyltransferase deficiency TGTGAGCTGCTGGGCCGCCTGCAGGCTGAG[G/T]TCCTGGAGTGCGTGAGCCTGGTGGAGCTGA 11243733 chr16 88876200 88876774 APRT S chr16_87875400_87875524_00000_2:chr16_87875702_87876044_00000_1:chr16_87876360_87876873_00000_1:chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1 7 chr16 88876221 88876222 CM102693 - 1 DM NULL APRT Adenine phosphoribosyltransferase deficiency cagGAACCATGAACGCTGCCTGTGAGCTGC[T/C]GGGCCGCCTGCAGGCTGAGGTCCTGGAGTG 20150536 chr16 88876200 88876774 APRT S chr16_87875400_87875524_00000_2:chr16_87875702_87876044_00000_1:chr16_87876360_87876873_00000_1:chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1 7 chr16 88876242 88876243 CM880009 - 1 DM rs28999113 APRT Adenine phosphoribosyltransferase deficiency gggacctcaccctcccatccccagGAACCA[T/C]GAACGCTGCCTGTGAGCTGCTGGGCCGCCT 3343350 chr16 88876200 88876774 APRT S chr16_87875400_87875524_00000_2:chr16_87875702_87876044_00000_1:chr16_87876360_87876873_00000_1:chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1 7 chr16 88876475 88876476 CI870027 - 6 DM NULL APRT Adenine phosphoribosyltransferase deficiency GTCGTGGATGATCTGCTGGCCACTGGTGGT[-/T]AAGGGTCTCCCCGCAGCCAACTGCTGTGGC 3680503 chr16 88876200 88876774 APRT S chr16_87875400_87875524_00000_2:chr16_87875702_87876044_00000_1:chr16_87876360_87876873_00000_1:chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1 7 chr16 88876480 88876481 CM044207 - 1 DM NULL APRT Adenine phosphoribosyltransferase deficiency TGGTCGTCGTGGATGATCTGCTGGCCACTG[G/A]TGgtaagggtctccccgcagccaactgctg 15571218 chr16 88876200 88876774 APRT S chr16_87875400_87875524_00000_2:chr16_87875702_87876044_00000_1:chr16_87876360_87876873_00000_1:chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1 7 chr16 88876507 88876508 CM102689 - 1 DM NULL APRT Adenine phosphoribosyltransferase deficiency AAGACGCCCTGGAGCCAGGACAGAGGGTGG[T/G]CGTCGTGGATGATCTGCTGGCCACTGGTGg 20150536 chr16 88876200 88876774 APRT S chr16_87875400_87875524_00000_2:chr16_87875702_87876044_00000_1:chr16_87876360_87876873_00000_1:chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1 7 chr16 88876532 88876533 CM095387 - 1 DM rs201944035 APRT Adenine phosphoribosyltransferase deficiency ctccagGCTGAGCTGGAGATTCAGAAAGAC[G/A]CCCTGGAGCCAGGACAGAGGGTGGTCGTCG 19435978 chr16 88876200 88876774 APRT S chr16_87875400_87875524_00000_2:chr16_87875702_87876044_00000_1:chr16_87876360_87876873_00000_1:chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1 7 chr16 88876544 88876545 CM910620 - 1 DM NULL APRT Adenine phosphoribosyltransferase deficiency caccacttcccactccagGCTGAGCTGGAG[A/T]TTCAGAAAGACGCCCTGGAGCCAGGACAGA 1781410 chr16 88876200 88876774 APRT S chr16_87875400_87875524_00000_2:chr16_87875702_87876044_00000_1:chr16_87876360_87876873_00000_1:chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1 7 chr16 88876549 88876550 CM940079 - 1 DM rs104894508 APRT Adenine phosphoribosyltransferase deficiency ccacacaccacttcccactccagGCTGAGC[T/C]GGAGATTCAGAAAGACGCCCTGGAGCCAGG 7915931 chr16 88876992 88877084 APRT S chr16_88554365_88555102_10110_3 1 . -1 -1 . -1 . . . . . . . chr16 88877296 88879102 APRT S chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3:chr16_88555194_88555237_10110_3:chr16_88555676_88555804_10110_1:chr16_88684949_88685000_11111_2:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1 7 chr16 88877962 88877963 CI910624 - 6 DM NULL APRT Adenine phosphoribosyltransferase deficiency GGCGACCCACGGGGGCCGCATCGACTACAT[-/T]CGCAGGCGAGTGCCCAGTGGCCGCATCTAG 1781410 chr16 88877296 88879102 APRT S chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3:chr16_88555194_88555237_10110_3:chr16_88555676_88555804_10110_1:chr16_88684949_88685000_11111_2:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1 7 chr16 88878026 88878027 CM102692 - 1 DM NULL APRT Adenine phosphoribosyltransferase deficiency CGCCCGTCCTGAAGGACCCCGCCTCCTTCC[G/C]CGCCGCCATCGGCCTCCTGGCGCGACACCT 20150536 chr16 88877296 88879102 APRT S chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3:chr16_88555194_88555237_10110_3:chr16_88555676_88555804_10110_1:chr16_88684949_88685000_11111_2:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1 7 chr16 88878047 88878048 CM114657 - 1 DM NULL APRT Adenine phosphoribosyltransferase deficiency tccttgggtccagGGACATCTCGCCCGTCC[T/C]GAAGGACCCCGCCTCCTTCCGCGCCGCCAT 21635362 chr16 88877296 88879102 APRT S chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3:chr16_88555194_88555237_10110_3:chr16_88555676_88555804_10110_1:chr16_88684949_88685000_11111_2:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1 7 chr16 88878061 88878062 CM122296 - 1 DM NULL APRT Adenine phosphoribosyltransferase deficiency cgtcaccaggcctgtccttgggtccagGGA[C/A]ATCTCGCCCGTCCTGAAGGACCCCGCCTCC 22212387 chr16 88877296 88879102 APRT S chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3:chr16_88555194_88555237_10110_3:chr16_88555676_88555804_10110_1:chr16_88684949_88685000_11111_2:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1 7 chr16 88878305 88878306 CM102688 - 1 DM NULL APRT Adenine phosphoribosyltransferase deficiency ggctgccgctggctcttcgcacgcggccAT[G/A]GCCGACTCCGAGCTGCAGCTGGTTGAGCAG 20150536 chr16 88877296 88879102 APRT S chr16_87889832_87890135_00000_1:chr16_88554365_88555102_10110_3:chr16_88555194_88555237_10110_3:chr16_88555676_88555804_10110_1:chr16_88684949_88685000_11111_2:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1 7 chr16 88878307 88878308 CM940078 - 1 DM NULL APRT Adenine phosphoribosyltransferase deficiency cgggctgccgctggctcttcgcacgcggcc[A/G]TGGCCGACTCCGAGCTGCAGCTGGTTGAGC 7912608 chr16 88923111 88924403 GALNS S chr16_88554365_88555102_10110_3:chr16_88555194_88555237_10110_3:chr16_88555676_88555804_10110_1:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1 5 chr16 88923165 88923166 CS061284 - 2 DM NULL GALNS Mucopolysaccharidosis IV CCCAACATCCTGCTCCTGCTCATGGACGAC[G/A]tgagtgcgggcggtgggacggggcagggcc 16378744 chr16 88923111 88924403 GALNS S chr16_88554365_88555102_10110_3:chr16_88555194_88555237_10110_3:chr16_88555676_88555804_10110_1:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1 5 chr16 88923175 88923180 CD013157 - 5 DM NULL GALNS Mucopolysaccharidosis IVa GGCGCCCCGCAGCCCCCCAACATCCTGCTC[CTGCTC/-]ATGGACGACGTGAGTGCGGGCGGTGGGACG 11524742 chr16 88923111 88924403 GALNS S chr16_88554365_88555102_10110_3:chr16_88555194_88555237_10110_3:chr16_88555676_88555804_10110_1:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1 5 chr16 88923179 88923180 CM054746 - 1 DM NULL GALNS Mucopolysaccharidosis IVa GCGCCCCGCAGCCCCCCAACATCCTGCTCC[T/C]GCTCATGGACGACgtgagtgcgggcggtgg 16287098 chr16 88923111 88924403 GALNS S chr16_88554365_88555102_10110_3:chr16_88555194_88555237_10110_3:chr16_88555676_88555804_10110_1:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1 5 chr16 88923219 88923220 CM042054 - 1 DM NULL GALNS Mucopolysaccharidosis IVa CTGTTGCTGGTGCTCAGCGCCGCGGGGATG[G/C]GGGCCTCGGGCGCCCCGCAGCCCCCCAACA 15241807 chr16 88923111 88924403 GALNS S chr16_88554365_88555102_10110_3:chr16_88555194_88555237_10110_3:chr16_88555676_88555804_10110_1:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1 5 chr16 88923243 88923244 CM054751 - 1 DM NULL GALNS Mucopolysaccharidosis IVa GTCGCGGCGACGAGGTGGTGGCAGCTGTTG[C/A]TGGTGCTCAGCGCCGCGGGGATGGGGGCCT 16287098 chr16 88923111 88924403 GALNS S chr16_88554365_88555102_10110_3:chr16_88555194_88555237_10110_3:chr16_88555676_88555804_10110_1:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1 5 chr16 88923257 88923258 CM970573 - 1 DM NULL GALNS Mucopolysaccharidosis IVa ccATGGCGGCGGTTGTCGCGGCGACGAGGT[G/A]GTGGCAGCTGTTGCTGGTGCTCAGCGCCGC 9298823 chr16 88923111 88924403 GALNS S chr16_88554365_88555102_10110_3:chr16_88555194_88555237_10110_3:chr16_88555676_88555804_10110_1:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1 5 chr16 88923283 88923284 CM137897 - 1 DM NULL GALNS Mucopolysaccharidosis IVa ccggggctccgcggctcccgtggttgccAT[G/A]GCGGCGGTTGTCGCGGCGACGAGGTGGTGG 23876334 chr16 88923111 88924403 GALNS S chr16_88554365_88555102_10110_3:chr16_88555194_88555237_10110_3:chr16_88555676_88555804_10110_1:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1 5 chr16 88923285 88923286 CM042053 - 1 DM NULL GALNS Mucopolysaccharidosis IVa ggccggggctccgcggctcccgtggttgcc[A/G]TGGCGGCGGTTGTCGCGGCGACGAGGTGGT 15241807 chr16 89233840 89234131 CDH15 S chr16_88554365_88555102_10110_3 1 . -1 -1 . -1 . . . . . . . chr16 89282984 89283196 ZNF778 S chr16_88554365_88555102_10110_3 1 . -1 -1 . -1 . . . . . . . chr16 89386400 89387200 ANKRD11 S chr16_89555531_89555769_10000_3 1 . -1 -1 . -1 . . . . . . . chr16 89386400 89387200 APRT S chr16_88878321_88878544_10000_2:chr16_88879042_88879102_10000_1 2 . -1 -1 . -1 . . . . . . . chr16 89396600 89397000 ANKRD11 S chr16_89555531_89555769_10000_3 1 . -1 -1 . -1 . . . . . . . chr16 89508860 89510475 RNU6-430P S chr16_88554365_88555102_10110_3 1 . -1 -1 . -1 . . . . . . . chr16 89540408 89540724 ANKRD11 S chr16_89555531_89555769_10000_3 1 . -1 -1 . -1 . . . . . . . chr16 89555521 89555997 ANKRD11 F chr16_89555559_89555769_10000_3:chr16_89557092_89557225_00000_2 2 . -1 -1 . -1 . . . . . . . chr16 89555531 89556166 ANKRD11 S chr16_88555194_88555237_10110_3:chr16_88555676_88555804_10110_1:chr16_88685200_88685265_11111_2:chr16_89386846_89386955_10000_1:chr16_89396609_89396710_11000_1 5 . -1 -1 . -1 . . . . . . . chr16 89555559 89557469 ANKRD11 F chr16_89555525_89555769_10000_3 1 . -1 -1 . -1 . . . . . . . chr16 89683162 89683271 DPEP1 F chr16_89685084_89685210_10000_1 1 . -1 -1 . -1 . . . . . . . chr16 89893793 89895407 SPIRE2 F chr16_89894157_89894274_10000_1 1 . -1 -1 . -1 . . . . . . . chr16 89893816 89894170 SPIRE2 F chr16_89894157_89894274_10000_1 1 . -1 -1 . -1 . . . . . . . chr16 89939335 89941093 TCF25 S chr16_89386846_89386955_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 30919 32515 DOC2B F chr17_32316_32448_11000_2 1 . -1 -1 . -1 . . . . . . . chr17 32253 32376 DOC2B F chr17_32316_32448_11000_2 1 . -1 -1 . -1 . . . . . . . chr17 198454 203133 RPH3AL F chr17_198428_198711_10000_3:chr17_199039_199137_11000_4 2 . -1 -1 . -1 . . . . . . . chr17 198472 198837 RPH3AL F chr17_198454_198711_10000_3:chr17_199039_199773_11000_4:chr17_200487_200817_11000_1:chr17_202278_202743_11010_3 4 . -1 -1 . -1 . . . . . . . chr17 200501 203133 RPH3AL F chr17_200487_200817_11000_1 1 . -1 -1 . -1 . . . . . . . chr17 200517 200885 RPH3AL F chr17_200501_200817_11000_1:chr17_202278_202743_11010_3 2 . -1 -1 . -1 . . . . . . . chr17 1619316 1621148 WDR81 F chr17_1620506_1621035_10010_2 1 . -1 -1 . -1 . . . . . . . chr17 1620806 1621089 WDR81 F chr17_1619763_1620000_10010_2:chr17_1620297_1621035_10010_2 2 . -1 -1 . -1 . . . . . . . chr17 1626372 1626653 WDR81 F chr17_1628278_1628334_10110_1:chr17_1628278_1628460_10110_1 2 . -1 -1 . -1 . . . . . . . chr17 1664758 1666852 SERPINF1 F chr17_1666219_1666242_10000_1:chr17_1666596_1666881_10110_2 2 chr17 1665330 1665331 CR054284 + 3 FP rs9913583 SERPINF1 Altered promoter activity GGACGCTGGATTAGAAGGCAGCAAAAAAAG[A/C]TCTGTGCTGGCTGGAGCCCCCTCAGTGTGC 16086313 chr17 1666519 1666783 SERPINF1 F chr17_1665122_1665355_10110_2:chr17_1666123_1666242_10000_1:chr17_1666596_1666852_10110_2 3 . -1 -1 . -1 . . . . . . . chr17 1926840 1928678 RTN4RL1 F chr17_1927033_1927156_10111_1 1 . -1 -1 . -1 . . . . . . . chr17 1926930 1927151 RTN4RL1 F chr17_1927033_1927156_10111_1 1 . -1 -1 . -1 . . . . . . . chr17 2300026 2300553 MNT F chr17_2302779_2303265_11111_2:chr17_2304108_2304275_11111_1:chr17_2304694_2304758_11111_3 3 . -1 -1 . -1 . . . . . . . chr17 2302108 2302510 MNT F chr17_2302779_2303265_11111_2:chr17_2304108_2304275_11111_1:chr17_2304694_2304758_11111_3 3 . -1 -1 . -1 . . . . . . . chr17 2302109 2304758 MNT F chr17_2302779_2302810_11111_2 1 . -1 -1 . -1 . . . . . . . chr17 2302778 2303366 MNT F chr17_2302872_2303265_11111_2:chr17_2304108_2304275_11111_1:chr17_2304694_2304758_11111_3 3 . -1 -1 . -1 . . . . . . . chr17 2302872 2304758 MNT F chr17_2302779_2303265_11111_2 1 . -1 -1 . -1 . . . . . . . chr17 2303757 2305619 MNT F chr17_2304966_2305405_11111_3 1 . -1 -1 . -1 . . . . . . . chr17 2305266 2305571 MNT F chr17_2304108_2304275_11111_1:chr17_2304694_2305405_11111_3 2 . -1 -1 . -1 . . . . . . . chr17 2613966 2615427 KIAA0664 F chr17_2614023_2614253_10000_3 1 . -1 -1 . -1 . . . . . . . chr17 2614073 2614260 KIAA0664 F chr17_2614023_2614253_10000_3:chr17_2614972_2615243_10000_2 2 . -1 -1 . -1 . . . . . . . chr17 4404427 4404640 SPNS2 F chr17_4403445_4403588_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 4613288 4615169 ARRB2 F chr17_4615173_4615458_11000_2 1 . -1 -1 . -1 . . . . . . . chr17 4613288 4616186 ARRB2 F chr17_4615851_4616266_10000_4 1 . -1 -1 . -1 . . . . . . . chr17 4614568 4615368 ARRB2 F chr17_4613340_4613958_11000_3 1 . -1 -1 . -1 . . . . . . . chr17 4615866 4616105 ARRB2 F chr17_4613340_4613958_11000_3:chr17_4615173_4615458_11000_2:chr17_4615851_4616186_10000_4 3 . -1 -1 . -1 . . . . . . . chr17 4736134 4737844 MINK1 F chr17_4737622_4737741_10101_1 1 . -1 -1 . -1 . . . . . . . chr17 4737531 4737755 MINK1 F chr17_4736484_4736600_10101_1:chr17_4736842_4737012_10100_1:chr17_4737622_4737741_10101_1 3 . -1 -1 . -1 . . . . . . . chr17 6614302 6617240 SLC13A5 F chr17_6614377_6614801_11010_3 1 . -1 -1 . -1 . . . . . . . chr17 6614362 6614643 SLC13A5 F chr17_6614377_6614801_11010_3:chr17_6615103_6615356_10001_2:chr17_6616567_6617014_11111_1 3 . -1 -1 . -1 . . . . . . . chr17 6655805 6659656 XAF1 F chr17_6655508_6656162_10000_3 1 . -1 -1 . -1 . . . . . . . chr17 6655808 6656203 XAF1 F chr17_6655805_6656162_10000_3:chr17_6656599_6656713_11000_1 2 . -1 -1 . -1 . . . . . . . chr17 6656383 6659656 XAF1 F chr17_6656119_6656162_10000_3:chr17_6656599_6656713_11000_1 2 . -1 -1 . -1 . . . . . . . chr17 6656419 6656747 XAF1 F chr17_6656599_6656713_11000_1 1 . -1 -1 . -1 . . . . . . . chr17 6924662 6924902 BCL6B F chr17_6925897_6926129_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 6925152 6925653 BCL6B F chr17_6925897_6926129_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 6925202 6926869 BCL6B F chr17_6925897_6925953_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 7015601 7015870 ASGR2 F chr17_7017930_7018129_10111_4:chr17_7017930_7018630_10111_4 2 . -1 -1 . -1 . . . . . . . chr17 7122924 7124110 ACADVL S chr17_8024291_8024330_10111_1 1 chr17 7123340 7123341 CM101569 + 1 DM rs63750670 ACADVL Very long chain acyl-CoA dehydrogenase deficiency GCGGCTCGGATGGCCGCGAGCTTGGGGCGG[C/T]AGCTGCTGAGGCTCGGGGGCGGAAGgtctg 20060901 chr17 7122924 7124110 ACADVL S chr17_8024291_8024330_10111_1 1 chr17 7123366 7123367 CS991278 + 2 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency GCGGCAGCTGCTGAGGCTCGGGGGCGGAAG[G/A]tctgtgtgtgacaagagggacggtgggcag 9973285 chr17 7122924 7124110 ACADVL S chr17_8024291_8024330_10111_1 1 chr17 7123443 7123444 CM001606 + 1 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency gccggcactgaacccccactccccacagCT[C/A]GCGGCTCACGGCGCTCCTGGGGCAGCCCCG 10790204 chr17 7122924 7124110 ACADVL S chr17_8024291_8024330_10111_1 1 chr17 7123482 7123483 CD991550 + 5 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency CGGCGCTCCTGGGGCAGCCCCGGCCCGGCC[C/-]TGCCCGGCGGCCCTATGCCGGGGGTGCCGC 9973285 chr17 7122924 7124110 ACADVL S chr17_8024291_8024330_10111_1 1 chr17 7123838 7123839 CS004151 + 2 DM? rs28934585 ACADVL Very long chain acyl-CoA dehydrogenase deficiency ACCCCTCTGACGCTCTGACCAGGAAAAAAC[C/T]GGCCAAGGCGgtaggtagccccgaggccag 10790204 chr17 7122924 7124110 ACADVL S chr17_8024291_8024330_10111_1 1 chr17 7123945 7123946 CM065964 + 1 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency ctgcccagGAATCTAAGTCCTTTGCTGTGG[G/A]AATGTTCAAAGGCCAGCTCACCACAGATCA 16860141 chr17 7122924 7124110 ACADVL S chr17_8024291_8024330_10111_1 1 chr17 7123969 7123970 CD991551 + 5 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency CTGTGGGAATGTTCAAAGGCCAGCTCACCA[CA/-]GATCAGGTGTTCCCATACCCGTCCGGTAAG 9973285 chr17 7122924 7124110 ACADVL S chr17_8024291_8024330_10111_1 1 chr17 7123983 7123984 CM022305 + 1 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency AAAGGCCAGCTCACCACAGATCAGGTGTTC[C/T]CATACCCGTCCGgtaagggaagggataatc 11914034 chr17 7122924 7124110 ACADVL S chr17_8024291_8024330_10111_1 1 chr17 7123990 7123991 CM140577 + 1 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency AGCTCACCACAGATCAGGTGTTCCCATACC[C/T]GTCCGgtaagggaagggataatcagagctg 23966064 chr17 7122924 7124110 ACADVL S chr17_8024291_8024330_10111_1 1 chr17 7123997 7123998 CS127072 + 2 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency CACAGATCAGGTGTTCCCATACCCGTCCGg[T/G]aagggaagggataatcagagctgggtgggg 22847164 chr17 7122924 7124110 ACADVL S chr17_8024291_8024330_10111_1 1 chr17 7124105 7124106 CD991552 + 5 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency CCCTCTGCAGTGCTCAACGAAGAGCAGACA[CA/-]GTTTCTTAAAGAGCTGGTGGAGCCTGTGTC 9973285 chr17 7210113 7212310 EIF5A S chr17_8024291_8024330_10111_1 1 . -1 -1 . -1 . . . . . . . chr17 7218029 7219014 GPS2 S chr17_8024291_8024330_10111_1 1 . -1 -1 . -1 . . . . . . . chr17 7389589 7389989 POLR2A F chr17_7387590_7387705_11101_2:chr17_7388050_7388325_11101_2 2 . -1 -1 . -1 . . . . . . . chr17 7389589 7389989 ZBTB4 F chr17_7387590_7387705_11101_2:chr17_7388050_7388325_11101_2 2 . -1 -1 . -1 . . . . . . . chr17 7482212 7482600 ACADVL S chr17_7123640_7124061_11110_1 1 . -1 -1 . -1 . . . . . . . chr17 7482212 7482600 CD68 S chr17_7482644_7483046_10000_3 1 . -1 -1 . -1 . . . . . . . chr17 7482212 7482600 DVL2 S chr17_7137830_7137977_10101_1 1 . -1 -1 . -1 . . . . . . . chr17 7482212 7482600 EIF4A1 S chr17_7475781_7475894_10010_1:chr17_7476819_7477260_10011_1 2 . -1 -1 . -1 . . . . . . . chr17 7738822 7740614 KDM6B F chr17_7739561_7739754_11111_1:chr17_7740052_7740609_11111_3 2 . -1 -1 . -1 . . . . . . . chr17 7739518 7743735 KDM6B F chr17_7738829_7739059_11110_1:chr17_7739561_7739754_11111_1:chr17_7740052_7740609_11111_3 3 . -1 -1 . -1 . . . . . . . chr17 7742734 7747474 KDM6B F chr17_7746920_7747365_10110_1 1 . -1 -1 . -1 . . . . . . . chr17 7746991 7747556 KDM6B F chr17_7745397_7745866_11110_2:chr17_7746393_7746532_10110_1:chr17_7746920_7747365_10110_1 3 . -1 -1 . -1 . . . . . . . chr17 7766148 7767017 7884 S chr17_8041978_8042166_10011_1 1 . -1 -1 . -1 . . . . . . . chr17 7766148 7767017 ACADVL S chr17_7117400_7117918_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 7766148 7767017 RPL26 S chr17_8286524_8286838_11101_2 1 . -1 -1 . -1 . . . . . . . chr17 7766148 7767017 SLC2A4 S chr17_7184021_7184262_11110_1 1 . -1 -1 . -1 . . . . . . . chr17 7787622 7790461 CHD3 F chr17_7789881_7789896_10111_1 1 . -1 -1 . -1 . . . . . . . chr17 7790060 7792669 CHD3 F chr17_7789881_7789896_10111_1 1 . -1 -1 . -1 . . . . . . . chr17 7790181 7790340 CHD3 F chr17_7789704_7789896_10111_1:chr17_7791011_7791449_10111_1:chr17_7792551_7792669_11111_1 3 . -1 -1 . -1 . . . . . . . chr17 8024291 8024994 ACADVL S chr17_7123640_7124061_11110_1 1 . -1 -1 . -1 . . . . . . . chr17 8024291 8024994 EIF5A S chr17_7210521_7210712_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 8024291 8024994 RPL26 S chr17_8286524_8286838_11101_2 1 . -1 -1 . -1 . . . . . . . chr17 8055252 8057896 PER1 F chr17_8057035_8057263_11110_3:chr17_8057649_8057874_11101_1 2 . -1 -1 . -1 . . . . . . . chr17 8057335 8058055 PER1 F chr17_8055620_8055915_11111_2:chr17_8056637_8057263_11110_3:chr17_8057649_8057874_11101_1 3 . -1 -1 . -1 . . . . . . . chr17 8285996 8287365 RPL26 S chr17_8024291_8024330_10111_1 1 . -1 -1 . -1 . . . . . . . chr17 8647653 8649635 CCDC42 F chr17_8649133_8649256_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 8649167 8649702 CCDC42 F chr17_8648112_8648421_10000_1:chr17_8649133_8649256_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 14204005 14206455 HS3ST3B1 F chr17_14206218_14206457_10100_2 1 . -1 -1 . -1 . . . . . . . chr17 14204005 14207415 HS3ST3B1 F chr17_14206949_14207086_10100_1 1 . -1 -1 . -1 . . . . . . . chr17 14206072 14206436 HS3ST3B1 F chr17_14204014_14204396_10100_3:chr17_14206218_14206455_10100_2 2 . -1 -1 . -1 . . . . . . . chr17 14206970 14207459 HS3ST3B1 F chr17_14204014_14204396_10100_3:chr17_14206218_14206457_10100_2:chr17_14206949_14207086_10100_1 3 . -1 -1 . -1 . . . . . . . chr17 16347200 16348200 FAM211A-AS1 S chr17_16341804_16342349_11111_2 1 . -1 -1 . -1 . . . . . . . chr17 16347200 16348200 PIGL S chr17_16118820_16118930_00000_1 1 . -1 -1 . -1 . . . . . . . chr17 16347200 16348200 UBB S chr17_16284244_16284753_11010_2 1 . -1 -1 . -1 . . . . . . . chr17 16948336 16948515 MPRIP F chr17_16945573_16945671_10000_2 1 . -1 -1 . -1 . . . . . . . chr17 17183823 17184835 COPS3 S chr17_17734126_17734446_11011_3 1 . -1 -1 . -1 . . . . . . . chr17 17493539 17495494 PEMT F chr17_17493835_17494034_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 17493657 17493822 PEMT F chr17_17493835_17494034_10000_1:chr17_17494764_17495219_11010_2 2 . -1 -1 . -1 . . . . . . . chr17 17494293 17495577 PEMT S chr17_17734126_17734446_11011_3 1 . -1 -1 . -1 . . . . . . . chr17 17585122 17586472 RAI1 S chr17_17734126_17734446_11011_3 1 . -1 -1 . -1 . . . . . . . chr17 17725925 17726059 SREBF1 S chr17_17734126_17734446_11011_3 1 . -1 -1 . -1 . . . . . . . chr17 17726821 17727389 SREBF1 S chr17_17734126_17734446_11011_3 1 . -1 -1 . -1 . . . . . . . chr17 17727612 17728600 SREBF1 S chr17_17734126_17734446_11011_3 1 . -1 -1 . -1 . . . . . . . chr17 17733800 17734600 DRG2 S chr17_17990930_17991226_11010_2 1 . -1 -1 . -1 . . . . . . . chr17 17733800 17734600 MIEF2 S chr17_18164451_18164799_11110_2 1 . -1 -1 . -1 . . . . . . . chr17 17733800 17734600 PEMT S chr17_17494764_17495219_11010_2 1 . -1 -1 . -1 . . . . . . . chr17 17733800 17734600 SMCR8 S chr17_18218231_18218577_11110_2 1 . -1 -1 . -1 . . . . . . . chr17 17733800 17734600 SREBF1 S chr17_17727257_17727389_10100_1:chr17_17738370_17738418_10100_3:chr17_17739513_17739745_11110_2 3 . -1 -1 . -1 . . . . . . . chr17 17738117 17738209 SREBF1 S chr17_17734126_17734446_11011_3 1 . -1 -1 . -1 . . . . . . . chr17 17738370 17738543 SREBF1 S chr17_17734126_17734446_11011_3 1 . -1 -1 . -1 . . . . . . . chr17 17739473 17740615 SREBF1 S chr17_17734126_17734446_11011_3 1 . -1 -1 . -1 . . . . . . . chr17 17990916 17991733 DRG2 S chr17_17734126_17734446_11011_3 1 . -1 -1 . -1 . . . . . . . chr17 18163528 18164799 MIEF2 S chr17_17734126_17734446_11011_3 1 . -1 -1 . -1 . . . . . . . chr17 18217880 18219064 SMCR8 S chr17_17734126_17734446_11011_3 1 . -1 -1 . -1 . . . . . . . chr17 21187096 21187372 MAP2K3 F chr17_21187704_21187858_10000_1:chr17_21187704_21187858_10000_1:chr17_21188466_21188468_10000_1:chr17_21188466_21188616_10000_1:chr17_21189617_21190036_10000_3:chr17_21191044_21191467_10000_2 6 . -1 -1 . -1 . . . . . . . chr17 21187467 21189357 MAP2K3 F chr17_21188512_21188616_10000_1:chr17_21189617_21189800_10000_3 2 . -1 -1 . -1 . . . . . . . chr17 21187467 21190053 MAP2K3 F chr17_21189617_21190036_10000_3 1 . -1 -1 . -1 . . . . . . . chr17 21188812 21189500 MAP2K3 F chr17_21187704_21187858_10000_1:chr17_21188466_21188616_10000_1:chr17_21189617_21190036_10000_3:chr17_21191044_21191467_10000_2 4 . -1 -1 . -1 . . . . . . . chr17 21188956 21191848 MAP2K3 F chr17_21188512_21188616_10000_1:chr17_21189617_21189800_10000_3 2 . -1 -1 . -1 . . . . . . . chr17 21189600 21190105 MAP2K3 F chr17_21187704_21187858_10000_1:chr17_21188466_21188616_10000_1:chr17_21189617_21190036_10000_3:chr17_21189652_21190036_10000_3:chr17_21191044_21191467_10000_2 5 . -1 -1 . -1 . . . . . . . chr17 21189652 21191848 MAP2K3 F chr17_21189617_21190036_10000_3 1 . -1 -1 . -1 . . . . . . . chr17 26694800 26695711 ENSG00000004139 S chr17_27025441_27025769_11100_1 1 chr17 26694861 26694862 CM093744 - 1 DP rs704 VTN Hemangioblastoma in VHL: association with ACCAGAACTCCCGCCGGCCATCCCGCGCCA[T/C]GTGGCTGTCCTTGTTCTCCAGTGAGGAGAG 19288063 chr17 26696850 26698020 ENSG00000004139 S chr17_27025441_27025769_11100_1 1 . -1 -1 . -1 . . . . . . . chr17 26904000 26904398 TRAF4 S chr17_27071354_27071758_10101_1 1 . -1 -1 . -1 . . . . . . . chr17 26973766 26973941 NEK8 S chr17_27053006_27053157_10100_1:chr17_27054300_27054502_10101_1 2 . -1 -1 . -1 . . . . . . . chr17 27025000 27026200 ENSG00000004139 S chr17_26695080_26695562_11111_3:chr17_26697296_26697838_11111_4 2 . -1 -1 . -1 . . . . . . . chr17 27025000 27026200 NEK8 S chr17_27053006_27053157_10100_1:chr17_27054300_27054502_10101_1 2 . -1 -1 . -1 . . . . . . . chr17 27025000 27026200 RAB34 S chr17_27046421_27047057_10101_1 1 . -1 -1 . -1 . . . . . . . chr17 27025000 27026200 TAOK1 S chr17_27717181_27717368_11110_1 1 . -1 -1 . -1 . . . . . . . chr17 27025000 27026200 TRAF4 S chr17_27071354_27071758_10101_1 1 . -1 -1 . -1 . . . . . . . chr17 27046333 27047400 RAB34 S chr17_27025441_27025769_11100_1 1 . -1 -1 . -1 . . . . . . . chr17 27051931 27054640 NEK8 S chr17_27025441_27025769_11100_1 1 . -1 -1 . -1 . . . . . . . chr17 27070115 27072824 TRAF4 S chr17_26904000_26904185_10111_1:chr17_27025441_27025769_11100_1 2 . -1 -1 . -1 . . . . . . . chr17 27070522 27073246 TRAF4 F chr17_27073139_27073411_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 27072804 27073286 TRAF4 F chr17_27071354_27071758_10101_1:chr17_27073139_27073246_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 27506307 27506816 MYO18A F chr17_27506361_27506686_00000_2 1 . -1 -1 . -1 . . . . . . . chr17 27506361 27507907 MYO18A F chr17_27506311_27506686_00000_2 1 . -1 -1 . -1 . . . . . . . chr17 27716921 27718514 TAOK1 S chr17_27025441_27025769_11100_1 1 . -1 -1 . -1 . . . . . . . chr17 27890961 27891203 ABHD15 F chr17_27892838_27893069_11100_2 1 . -1 -1 . -1 . . . . . . . chr17 34413016 34418006 CCL3 F chr17_34413065_34413332_00000_3 1 . -1 -1 . -1 . . . . . . . chr17 34413023 34413409 CCL3 F chr17_34413065_34413332_00000_3:chr17_34414930_34415184_00000_3 2 . -1 -1 . -1 . . . . . . . chr17 34417005 34419901 CCL3 F chr17_34420185_34420234_00000_3 1 . -1 -1 . -1 . . . . . . . chr17 34948982 34949076 DHRS11 F chr17_34948103_34948213_10100_1 1 . -1 -1 . -1 . . . . . . . chr17 36068054 36068400 7859 S chr17_37025605_37025739_11011_1:chr17_37027799_37028024_11111_1 2 . -1 -1 . -1 . . . . . . . chr17 36077023 36077688 7859 S chr17_37025605_37025739_11011_1:chr17_37027799_37028024_11111_1 2 . -1 -1 . -1 . . . . . . . chr17 36101828 36102076 HNF1B F chr17_36102882_36103062_11111_1:chr17_36103523_36103778_11110_1:chr17_36105155_36105425_10111_1 3 . -1 -1 . -1 . . . . . . . chr17 36102737 36105596 HNF1B F chr17_36102882_36103062_11111_1 1 chr17 36104534 36104541 CD063625 - 5 DM NULL HNF1B Pancreas hypoplasia & multicystic renal dysplasia AGGCGGCGGAGCAGCGGGCGGAGGTGGACC[GGATGCTC/-]AGGTAGGCGCAGAGCGAGGTGGAGGGGACC 16801329 chr17 36102737 36105596 HNF1B F chr17_36102882_36103062_11111_1 1 chr17 36104541 36104542 CM042485 - 1 DM NULL HNF1B Diabetes: MODY AGGCGGCGGAGCAGCGGGCGGAGGTGGACC[G/C]GATGCTCAGgtaggcgcagagcgaggtgga 15068978 chr17 36102737 36105596 HNF1B F chr17_36102882_36103062_11111_1 1 chr17 36104547 36104548 CM060493 - 1 DM NULL HNF1B Diabetes: MODY CCGAGGAGGCGGCGGAGCAGCGGGCGGAGG[T/G]GGACCGGATGCTCAGgtaggcgcagagcga 15930087 chr17 36102737 36105596 HNF1B F chr17_36102882_36103062_11111_1 1 chr17 36104554 36104555 CD104574 - 5 DM NULL HNF1B Hyperuricaemic nephropathy CTCAACACCGAGGAGGCGGCGGAGCAGCGG[G/-]CGGAGGTGGACCGGATGCTCAGGTAGGCGC 20378641 chr17 36102737 36105596 HNF1B F chr17_36102882_36103062_11111_1 1 chr17 36104575 36104576 CM010457 - 1 DM rs121918671 HNF1B GCKD with early-onset diabetes ATCCTCAAGGAGCTGCAGGCGCTCAACACC[G/T]AGGAGGCGGCGGAGCAGCGGGCGGAGGTGG 11085914 chr17 36102737 36105596 HNF1B F chr17_36102882_36103062_11111_1 1 chr17 36104591 36104592 CI041965 - 6 DM NULL HNF1B Diabetes: MODY CTATGACACACCTCCCATCCTCAAGGAGCT[-/AGCT]GCAGGCGCTCAACACCGAGGAGGCGGCGGA 15168014 chr17 36102737 36105596 HNF1B F chr17_36102882_36103062_11111_1 1 chr17 36104644 36104645 CM104564 - 1 DM NULL HNF1B Multicystic kidney disease GGCCACGCCAAGGGCCGCTTGTCCGGCGAC[G/T]AGGGCTCCGAGGACGGCGACGACTATGACA 20378641 chr17 36102737 36105596 HNF1B F chr17_36102882_36103062_11111_1 1 chr17 36104650 36104651 CM055551 - 1 DM rs144425830 HNF1B Diabetes: MODY ACCAACGGCCACGCCAAGGGCCGCTTGTCC[G/T]GCGACGAGGGCTCCGAGGACGGCGACGACT 16249435 chr17 36102737 36105596 HNF1B F chr17_36102882_36103062_11111_1 1 chr17 36104659 36104665 CD104573 - 5 DM NULL HNF1B Renal hypodysplasia GTCTTCCATACTCTCACCAACGGCCACGCC[AAGGGCC/-]GCTTGTCCGGCGACGAGGGCTCCGAGGACG 20378641 chr17 36102737 36105596 HNF1B F chr17_36102882_36103062_11111_1 1 chr17 36104669 36104670 CD024193 - 5 DM NULL HNF1B GCKD with early-onset diabetes AGCCGGTCTTCCATACTCTCACCAACGGCC[AC/-]GCCAAGGGCCGCTTGTCCGGCGACGAGGGC 12460054 chr17 36102737 36105596 HNF1B F chr17_36102882_36103062_11111_1 1 chr17 36104694 36104695 CM060492 - 1 DM rs147816724 HNF1B Diabetes: MODY GCAGCGGGGCCGAGCCCGACACCAAGCCGG[T/G]CTTCCATACTCTCACCAACGGCCACGCCAA 15930087 chr17 36102737 36105596 HNF1B F chr17_36102882_36103062_11111_1 1 chr17 36104733 36104734 CD055733 - 5 DM NULL HNF1B Diabetes: MODY ACTTCGGGGTGAAGCTGGAGACGCTGCCCC[T/-]GTCCCCTGGCAGCGGGGCCGAGCCCGACAC 16249435 chr17 36102737 36105596 HNF1B F chr17_36102882_36103062_11111_1 1 chr17 36104769 36104770 CM020188 - 1 DM? NULL HNF1B Diabetes: MODY TGGTTCAGGCCTTGGAGGAGTTGCTGCCAT[C/T]CCCGAACTTCGGGGTGAAGCTGGAGACGCT 11845238 chr17 36102737 36105596 HNF1B F chr17_36102882_36103062_11111_1 1 chr17 36104830 36104831 CD050474 - 5 DM NULL HNF1B Renal carcinoma ACGTCGCTCCAGCAAGAACTCCTGAGCGCC[C/-]TGCTGAGCTCCGGGGTCACCAAGGAGGTGC 15649945 chr17 36102737 36105596 HNF1B F chr17_36102882_36103062_11111_1 1 chr17 36104858 36104859 CD1310381 - 5 DM NULL HNF1B Hyperparathyroidism CCGTCCTTGGAAAATGGTGTCCAAGCTCAC[G/-]TCGCTCCAGCAAGAACTCCTGAGCGCCCTG 23979948 chr17 36102737 36105596 HNF1B F chr17_36102882_36103062_11111_1 1 chr17 36104873 36104874 CM104563 - 1 DM NULL HNF1B Multicystic kidney disease cacccccttctttttccgtccttggaaaAT[G/T]GTGTCCAAGCTCACGTCGCTCCAGCAAGAA 20378641 chr17 36102823 36103051 HNF1B F chr17_36102882_36103062_11111_1:chr17_36103523_36103778_11110_1:chr17_36105155_36105425_10111_1 3 . -1 -1 . -1 . . . . . . . chr17 36103526 36105596 HNF1B F chr17_36103523_36103778_11110_1 1 chr17 36104534 36104541 CD063625 - 5 DM NULL HNF1B Pancreas hypoplasia & multicystic renal dysplasia AGGCGGCGGAGCAGCGGGCGGAGGTGGACC[GGATGCTC/-]AGGTAGGCGCAGAGCGAGGTGGAGGGGACC 16801329 chr17 36103526 36105596 HNF1B F chr17_36103523_36103778_11110_1 1 chr17 36104541 36104542 CM042485 - 1 DM NULL HNF1B Diabetes: MODY AGGCGGCGGAGCAGCGGGCGGAGGTGGACC[G/C]GATGCTCAGgtaggcgcagagcgaggtgga 15068978 chr17 36103526 36105596 HNF1B F chr17_36103523_36103778_11110_1 1 chr17 36104547 36104548 CM060493 - 1 DM NULL HNF1B Diabetes: MODY CCGAGGAGGCGGCGGAGCAGCGGGCGGAGG[T/G]GGACCGGATGCTCAGgtaggcgcagagcga 15930087 chr17 36103526 36105596 HNF1B F chr17_36103523_36103778_11110_1 1 chr17 36104554 36104555 CD104574 - 5 DM NULL HNF1B Hyperuricaemic nephropathy CTCAACACCGAGGAGGCGGCGGAGCAGCGG[G/-]CGGAGGTGGACCGGATGCTCAGGTAGGCGC 20378641 chr17 36103526 36105596 HNF1B F chr17_36103523_36103778_11110_1 1 chr17 36104575 36104576 CM010457 - 1 DM rs121918671 HNF1B GCKD with early-onset diabetes ATCCTCAAGGAGCTGCAGGCGCTCAACACC[G/T]AGGAGGCGGCGGAGCAGCGGGCGGAGGTGG 11085914 chr17 36103526 36105596 HNF1B F chr17_36103523_36103778_11110_1 1 chr17 36104591 36104592 CI041965 - 6 DM NULL HNF1B Diabetes: MODY CTATGACACACCTCCCATCCTCAAGGAGCT[-/AGCT]GCAGGCGCTCAACACCGAGGAGGCGGCGGA 15168014 chr17 36103526 36105596 HNF1B F chr17_36103523_36103778_11110_1 1 chr17 36104644 36104645 CM104564 - 1 DM NULL HNF1B Multicystic kidney disease GGCCACGCCAAGGGCCGCTTGTCCGGCGAC[G/T]AGGGCTCCGAGGACGGCGACGACTATGACA 20378641 chr17 36103526 36105596 HNF1B F chr17_36103523_36103778_11110_1 1 chr17 36104650 36104651 CM055551 - 1 DM rs144425830 HNF1B Diabetes: MODY ACCAACGGCCACGCCAAGGGCCGCTTGTCC[G/T]GCGACGAGGGCTCCGAGGACGGCGACGACT 16249435 chr17 36103526 36105596 HNF1B F chr17_36103523_36103778_11110_1 1 chr17 36104659 36104665 CD104573 - 5 DM NULL HNF1B Renal hypodysplasia GTCTTCCATACTCTCACCAACGGCCACGCC[AAGGGCC/-]GCTTGTCCGGCGACGAGGGCTCCGAGGACG 20378641 chr17 36103526 36105596 HNF1B F chr17_36103523_36103778_11110_1 1 chr17 36104669 36104670 CD024193 - 5 DM NULL HNF1B GCKD with early-onset diabetes AGCCGGTCTTCCATACTCTCACCAACGGCC[AC/-]GCCAAGGGCCGCTTGTCCGGCGACGAGGGC 12460054 chr17 36103526 36105596 HNF1B F chr17_36103523_36103778_11110_1 1 chr17 36104694 36104695 CM060492 - 1 DM rs147816724 HNF1B Diabetes: MODY GCAGCGGGGCCGAGCCCGACACCAAGCCGG[T/G]CTTCCATACTCTCACCAACGGCCACGCCAA 15930087 chr17 36103526 36105596 HNF1B F chr17_36103523_36103778_11110_1 1 chr17 36104733 36104734 CD055733 - 5 DM NULL HNF1B Diabetes: MODY ACTTCGGGGTGAAGCTGGAGACGCTGCCCC[T/-]GTCCCCTGGCAGCGGGGCCGAGCCCGACAC 16249435 chr17 36103526 36105596 HNF1B F chr17_36103523_36103778_11110_1 1 chr17 36104769 36104770 CM020188 - 1 DM? NULL HNF1B Diabetes: MODY TGGTTCAGGCCTTGGAGGAGTTGCTGCCAT[C/T]CCCGAACTTCGGGGTGAAGCTGGAGACGCT 11845238 chr17 36103526 36105596 HNF1B F chr17_36103523_36103778_11110_1 1 chr17 36104830 36104831 CD050474 - 5 DM NULL HNF1B Renal carcinoma ACGTCGCTCCAGCAAGAACTCCTGAGCGCC[C/-]TGCTGAGCTCCGGGGTCACCAAGGAGGTGC 15649945 chr17 36103526 36105596 HNF1B F chr17_36103523_36103778_11110_1 1 chr17 36104858 36104859 CD1310381 - 5 DM NULL HNF1B Hyperparathyroidism CCGTCCTTGGAAAATGGTGTCCAAGCTCAC[G/-]TCGCTCCAGCAAGAACTCCTGAGCGCCCTG 23979948 chr17 36103526 36105596 HNF1B F chr17_36103523_36103778_11110_1 1 chr17 36104873 36104874 CM104563 - 1 DM NULL HNF1B Multicystic kidney disease cacccccttctttttccgtccttggaaaAT[G/T]GTGTCCAAGCTCACGTCGCTCCAGCAAGAA 20378641 chr17 36103612 36103841 HNF1B F chr17_36103526_36103778_11110_1:chr17_36105155_36105425_10111_1 2 . -1 -1 . -1 . . . . . . . chr17 36665840 36666719 7859 S chr17_37025605_37025739_11011_1:chr17_37027799_37028024_11111_1 2 . -1 -1 . -1 . . . . . . . chr17 36819589 36819600 7859 S chr17_37025605_37025739_11011_1:chr17_37027799_37028024_11111_1 2 . -1 -1 . -1 . . . . . . . chr17 36827982 36828800 7859 S chr17_37025605_37025739_11011_1:chr17_37027799_37028024_11111_1 2 . -1 -1 . -1 . . . . . . . chr17 36830102 36831602 C17orf96 S chr17_37071105_37071633_10010_1 1 . -1 -1 . -1 . . . . . . . chr17 36856343 36862757 MLLT6 S chr17_37071105_37071633_10010_1 1 . -1 -1 . -1 . . . . . . . chr17 36862932 36863248 MLLT6 S chr17_37071105_37071633_10010_1 1 . -1 -1 . -1 . . . . . . . chr17 36886045 36887677 RNA5SP440 S chr17_37071105_37071633_10010_1 1 . -1 -1 . -1 . . . . . . . chr17 36888306 36888549 RNA5SP440 S chr17_37071105_37071633_10010_1 1 . -1 -1 . -1 . . . . . . . chr17 37023200 37023600 7859 S chr17_37025605_37025739_11011_1:chr17_37027799_37028024_11111_1 2 . -1 -1 . -1 . . . . . . . chr17 37025117 37028160 7859 S chr17_36068268_36068400_11110_3:chr17_36077023_36077433_11111_3:chr17_36828618_36828790_10100_1:chr17_37071105_37071633_10010_1 4 . -1 -1 . -1 . . . . . . . chr17 37028581 37029619 7859 S chr17_37071105_37071633_10010_1 1 . -1 -1 . -1 . . . . . . . chr17 37070562 37071800 7859 S chr17_37025605_37025739_11011_1:chr17_37027799_37028024_11111_1:chr17_37029090_37029285_11101_2 3 . -1 -1 . -1 . . . . . . . chr17 37070562 37071800 CDK12 S chr17_37617401_37617712_10000_3:chr17_37618713_37618825_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 37070562 37071800 MLLT6 S chr17_36859977_36860182_10010_1 1 . -1 -1 . -1 . . . . . . . chr17 37070562 37071800 RNA5SP440 S chr17_36886410_36886551_11100_1:chr17_36887091_36887314_10110_1 2 . -1 -1 . -1 . . . . . . . chr17 37308468 37309230 7859 S chr17_37025605_37025739_11011_1:chr17_37027799_37028024_11111_1 2 . -1 -1 . -1 . . . . . . . chr17 37617385 37618865 CDK12 S chr17_37071105_37071633_10010_1 1 . -1 -1 . -1 . . . . . . . chr17 37808442 37809000 7859 S chr17_37025605_37025739_11011_1:chr17_37027799_37028024_11111_1 2 . -1 -1 . -1 . . . . . . . chr17 37824920 37825200 7859 S chr17_37025605_37025739_11011_1:chr17_37027799_37028024_11111_1 2 . -1 -1 . -1 . . . . . . . chr17 37886271 37887109 MIEN1 S chr17_37071105_37071633_10010_1:chr17_38078400_38078617_11000_3:chr17_38515347_38515400_10000_1 3 . -1 -1 . -1 . . . . . . . chr17 37896808 37897181 GRB7 F chr17_37893688_37893981_11101_1:chr17_37895414_37896073_11111_2:chr17_37895414_37896073_11111_2:chr17_37895414_37896073_11111_2:chr17_37895719_37896073_11111_2 5 . -1 -1 . -1 . . . . . . . chr17 37906292 37906400 7859 S chr17_37025605_37025739_11011_1:chr17_37027799_37028024_11111_1 2 . -1 -1 . -1 . . . . . . . chr17 38076600 38076749 GSDMB S chr17_38078285_38078400_11000_3 1 . -1 -1 . -1 . . . . . . . chr17 38076600 38076749 MSL1 S chr17_38278123_38278265_10101_1:chr17_38279946_38280084_10100_1 2 . -1 -1 . -1 . . . . . . . chr17 38076600 38076749 NR1D1 S chr17_38255220_38255717_11111_2 1 . -1 -1 . -1 . . . . . . . chr17 38076600 38076749 ORMDL3 S chr17_38082746_38083322_11000_3:chr17_38083731_38084100_11000_2 2 . -1 -1 . -1 . . . . . . . chr17 38076877 38077800 GSDMB S chr17_38078285_38078400_11000_3 1 . -1 -1 . -1 . . . . . . . chr17 38076877 38077800 MSL1 S chr17_38278123_38278265_10101_1:chr17_38279946_38280084_10100_1 2 . -1 -1 . -1 . . . . . . . chr17 38076877 38077800 NR1D1 S chr17_38255220_38255717_11111_2 1 . -1 -1 . -1 . . . . . . . chr17 38076877 38077800 ORMDL3 S chr17_38082746_38083322_11000_3:chr17_38083731_38084100_11000_2 2 . -1 -1 . -1 . . . . . . . chr17 38077800 38078400 GSDMB S chr17_38078400_38078617_11000_3 1 . -1 -1 . -1 . . . . . . . chr17 38078400 38078864 GSDMB S chr17_38078285_38078400_11000_3 1 . -1 -1 . -1 . . . . . . . chr17 38078400 38078864 NR1D1 S chr17_38255220_38255717_11111_2 1 . -1 -1 . -1 . . . . . . . chr17 38078400 38078864 ORMDL3 S chr17_38082746_38083322_11000_3:chr17_38083731_38084100_11000_2 2 . -1 -1 . -1 . . . . . . . chr17 38082746 38084680 ORMDL3 S chr17_38078400_38078617_11000_3 1 . -1 -1 . -1 . . . . . . . chr17 38083383 38085856 ORMDL3 F chr17_38085387_38085579_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 38085522 38085789 ORMDL3 F chr17_38083731_38084100_11000_2:chr17_38085387_38085579_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 38136484 38137902 PSMD3 S chr17_38515347_38515400_10000_1:chr17_39058227_39058499_11000_3:chr17_39113078_39113344_11000_1 3 . -1 -1 . -1 . . . . . . . chr17 38170256 38172080 PSMD3 S chr17_38136927_38137128_11111_2:chr17_38137709_38137902_11000_1 2 . -1 -1 . -1 . . . . . . . chr17 38254249 38254664 NR1D1 F chr17_38254256_38254798_11111_2:chr17_38255220_38255717_11111_2:chr17_38256780_38257473_11111_3 3 . -1 -1 . -1 . . . . . . . chr17 38254256 38257473 NR1D1 F chr17_38254221_38254798_11111_2 1 . -1 -1 . -1 . . . . . . . chr17 38255086 38256019 NR1D1 S chr17_38078400_38078617_11000_3 1 . -1 -1 . -1 . . . . . . . chr17 38256248 38257773 NR1D1 S chr17_39113078_39113344_11000_1 1 . -1 -1 . -1 . . . . . . . chr17 38446604 38447066 PSMD3 S chr17_38136927_38137128_11111_2:chr17_38137709_38137902_11000_1 2 . -1 -1 . -1 . . . . . . . chr17 38470934 38471197 RARA F chr17_38472942_38473101_11111_2:chr17_38474413_38474542_11100_1 2 . -1 -1 . -1 . . . . . . . chr17 38473972 38478867 RARA F chr17_38478695_38478826_11011_1 1 . -1 -1 . -1 . . . . . . . chr17 38475638 38476939 RARA F chr17_38474413_38474542_11100_1 1 . -1 -1 . -1 . . . . . . . chr17 38477236 38480096 RARA F chr17_38474413_38474542_11100_1:chr17_38478695_38478826_11011_1 2 . -1 -1 . -1 . . . . . . . chr17 38494493 38494615 RARA F chr17_38497599_38497732_11101_1:chr17_38498569_38498702_11101_1 2 . -1 -1 . -1 . . . . . . . chr17 38496652 38496786 RARA F chr17_38497599_38497732_11101_1:chr17_38498569_38498702_11101_1 2 . -1 -1 . -1 . . . . . . . chr17 38515025 38515400 PSMD3 S chr17_38136927_38137128_11111_2:chr17_38137709_38137902_11000_1 2 . -1 -1 . -1 . . . . . . . chr17 38599175 38603899 IGFBP4 F chr17_38603504_38603689_11111_3 1 . -1 -1 . -1 . . . . . . . chr17 38601076 38601487 IGFBP4 F chr17_38600041_38600227_11110_1 1 . -1 -1 . -1 . . . . . . . chr17 38602883 38603101 IGFBP4 F chr17_38600041_38600227_11110_1:chr17_38602467_38602577_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 38603509 38603888 IGFBP4 F chr17_38600041_38600227_11110_1:chr17_38602467_38602577_10000_1:chr17_38603504_38603689_11111_3 3 . -1 -1 . -1 . . . . . . . chr17 39057915 39060098 PSMD3 S chr17_38136927_38137128_11111_2:chr17_38137709_38137902_11000_1 2 . -1 -1 . -1 . . . . . . . chr17 39112556 39114694 EIF1 S chr17_39844848_39845130_11010_3:chr17_39845458_39845600_11010_1 2 . -1 -1 . -1 . . . . . . . chr17 39112556 39114694 ENSG00000204815 S chr17_40086525_40086918_11111_2 1 . -1 -1 . -1 . . . . . . . chr17 39112556 39114694 NR1D1 S chr17_38256780_38257676_11111_3 1 . -1 -1 . -1 . . . . . . . chr17 39112556 39114694 PSMD3 S chr17_38136927_38137128_11111_2:chr17_38137709_38137902_11000_1 2 . -1 -1 . -1 . . . . . . . chr17 39844595 39845600 EIF1 S chr17_39113078_39113344_11000_1 1 . -1 -1 . -1 . . . . . . . chr17 40086416 40087110 ENSG00000204815 S chr17_39113078_39113344_11000_1 1 . -1 -1 . -1 . . . . . . . chr17 40671016 40672976 CNTD1 S chr17_40949423_40949595_10101_2:chr17_40950535_40950807_11111_2 2 . -1 -1 . -1 . . . . . . . chr17 40671016 40672976 COASY S chr17_40717012_40717238_10000_3:chr17_40718909_40719106_11111_1:chr17_40719684_40719904_11101_1 3 . -1 -1 . -1 . . . . . . . chr17 40671016 40672976 EIF1 S chr17_39844848_39845130_11010_3:chr17_39845458_39845600_11010_1 2 . -1 -1 . -1 . . . . . . . chr17 40671016 40672976 ENSG00000204815 S chr17_40086525_40086918_11111_2 1 . -1 -1 . -1 . . . . . . . chr17 40671016 40672976 RPL27 S chr17_41150105_41150479_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 40713769 40715413 COASY S chr17_41368874_41369001_10101_1 1 chr17 40714815 40714816 CM140054 + 1 DM NULL COASY Neurodegeneration with brain iron accumulation GGCCCGGCTCAGCCCCAGTCCAGCCCCGTG[C/T]AGGCCACGTTTGAGGTTCTTGATTTCATCA 24360804 chr17 40716882 40720028 COASY S chr17_41368874_41369001_10101_1 1 chr17 40717686 40717687 CM140053 + 1 DM rs140709867 COASY Neurodegeneration with brain iron accumulation aaatgtctcgtctgtgctcagGCTGTAAGA[C/T]GCATTGTGGAGAGGGATGGCCTCAGTGAAG 24360804 chr17 40729298 40730755 PSMC3IP S chr17_41368874_41369001_10101_1 1 chr17 40729741 40729742 CR137747 - 3 DM? rs199620968 PSMC3IP Breast and/or ovarian cancer CCGGAAGGAGCCGTCGCCCCGAGCAACTAC[A/T]ACGTCCGGCTTTCTGAGTTGGGTGGCGGGA 23946868 chr17 40833393 40833693 PLEKHH3 S chr17_41220712_41221489_11001_4 1 . -1 -1 . -1 . . . . . . . chr17 40925218 40926097 VPS25 S chr17_41220712_41221489_11001_4:chr17_41368874_41369001_10101_1:chr17_41534239_41534800_11100_4:chr17_41849314_41849665_11000_2:chr17_41850327_41850513_10001_1 5 . -1 -1 . -1 . . . . . . . chr17 40931800 40933786 WNK4 S chr17_41368874_41369001_10101_1 1 . -1 -1 . -1 . . . . . . . chr17 40948884 40951000 CNTD1 S chr17_41368874_41369001_10101_1 1 . -1 -1 . -1 . . . . . . . chr17 41149922 41151136 RPL27 S chr17_41286742_41286950_10000_2:chr17_41368874_41369001_10101_1:chr17_41849314_41849665_11000_2:chr17_41850327_41850513_10001_1 4 . -1 -1 . -1 . . . . . . . chr17 41176436 41176782 VAT1 S chr17_41220712_41221489_11001_4 1 . -1 -1 . -1 . . . . . . . chr17 41220671 41221734 VAT1 S chr17_41176616_41176717_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 41286600 41287600 RPL27 S chr17_41150105_41150479_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 41367800 41370000 ATXN7L3 S chr17_42277400_42277729_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 41367800 41370000 CNTD1 S chr17_40949423_40949595_10101_2:chr17_40950535_40950807_11111_2 2 . -1 -1 . -1 . . . . . . . chr17 41367800 41370000 COASY S chr17_40714065_40714226_11111_2:chr17_40714806_40715103_11111_1:chr17_40717012_40717238_10000_3:chr17_40718909_40719106_11111_1:chr17_40719684_40719904_11101_1 5 . -1 -1 . -1 . . . . . . . chr17 41367800 41370000 DHX8 S chr17_41561132_41561389_10011_3 1 . -1 -1 . -1 . . . . . . . chr17 41367800 41370000 ETV4 S chr17_41621861_41622232_11100_2 1 . -1 -1 . -1 . . . . . . . chr17 41367800 41370000 G6PC3 S chr17_42147974_42148192_11111_2 1 . -1 -1 . -1 . . . . . . . chr17 41367800 41370000 HDAC5 S chr17_42201192_42201482_11110_1 1 . -1 -1 . -1 . . . . . . . chr17 41367800 41370000 PSMC3IP S chr17_40729743_40729926_11101_2 1 . -1 -1 . -1 . . . . . . . chr17 41367800 41370000 RPL27 S chr17_41150105_41150479_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 41470432 41471471 GRN S chr17_42422387_42422654_11111_3 1 . -1 -1 . -1 . . . . . . . chr17 41478754 41478975 ARL4D F chr17_41476181_41476368_11100_2 1 . -1 -1 . -1 . . . . . . . chr17 41534200 41534800 GRN S chr17_42422387_42422654_11111_3 1 . -1 -1 . -1 . . . . . . . chr17 41560897 41561818 DHX8 S chr17_41368874_41369001_10101_1 1 . -1 -1 . -1 . . . . . . . chr17 41605101 41606400 RPL27 S chr17_41150105_41150479_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 41607400 41609355 ATXN7L3 S chr17_42277400_42277729_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 41607400 41609355 BRCA1 S chr17_41277442_41277807_10000_2:chr17_41321819_41322119_00000_3:chr17_41322338_41322694_00000_1:chr17_41322991_41323193_00000_2 4 . -1 -1 . -1 . . . . . . . chr17 41607400 41609355 CNTD1 S chr17_40949423_40949595_10101_2:chr17_40950535_40950807_11111_2 2 . -1 -1 . -1 . . . . . . . chr17 41607400 41609355 COASY S chr17_40714065_40714226_11111_2:chr17_40714806_40715103_11111_1:chr17_40717012_40717238_10000_3:chr17_40718909_40719106_11111_1:chr17_40719684_40719904_11101_1 5 . -1 -1 . -1 . . . . . . . chr17 41607400 41609355 DHX8 S chr17_41561132_41561389_10011_3 1 . -1 -1 . -1 . . . . . . . chr17 41607400 41609355 ENSG00000243582 S chr17_41445220_41445421_10000_1:chr17_41446099_41446250_11000_1:chr17_41446823_41446875_10000_1 3 . -1 -1 . -1 . . . . . . . chr17 41607400 41609355 ETV4 S chr17_41621861_41622232_11100_2 1 . -1 -1 . -1 . . . . . . . chr17 41607400 41609355 G6PC3 S chr17_42147974_42148192_11111_2 1 . -1 -1 . -1 . . . . . . . chr17 41607400 41609355 G6PC S chr17_41052516_41052852_11010_4 1 . -1 -1 . -1 . . . . . . . chr17 41607400 41609355 GRN S chr17_42422387_42422654_11111_3 1 . -1 -1 . -1 . . . . . . . chr17 41607400 41609355 HDAC5 S chr17_42201192_42201482_11110_1 1 . -1 -1 . -1 . . . . . . . chr17 41607400 41609355 NAGLU S chr17_40688613_40688790_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 41607400 41609355 PSMC3IP S chr17_40729743_40729926_11101_2 1 . -1 -1 . -1 . . . . . . . chr17 41607400 41609355 RPL27 S chr17_41150105_41150479_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 41621411 41624231 ETV4 S chr17_41368874_41369001_10101_1 1 . -1 -1 . -1 . . . . . . . chr17 41649772 41651200 GRN S chr17_42422387_42422654_11111_3 1 . -1 -1 . -1 . . . . . . . chr17 41649772 41651200 RPL27 S chr17_41150105_41150479_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 41849200 41850600 GRN S chr17_42422387_42422654_11111_3 1 . -1 -1 . -1 . . . . . . . chr17 41849200 41850600 RPL27 S chr17_41150105_41150479_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 42147861 42148733 G6PC3 S chr17_41368874_41369001_10101_1 1 chr17 42148463 42148464 CM110774 + 1 DM NULL G6PC3 Neutropaenia: congenital GATCCCAAGATCCTCTTTCTGTTCTACTTC[C/T]CCGCGGCCTACTACGCCTCCCGCCGTGTGG 21264919 chr17 42147861 42148733 G6PC3 S chr17_41368874_41369001_10101_1 1 chr17 42148464 42148465 CM118964 + 1 DM NULL G6PC3 Neutropaenia: congenital ATCCCAAGATCCTCTTTCTGTTCTACTTCC[C/T]CGCGGCCTACTACGCCTCCCGCCGTGTGGG 22050868 chr17 42147861 42148733 G6PC3 S chr17_41368874_41369001_10101_1 1 chr17 42148474 42148475 CM090102 + 1 DM rs118203970 G6PC3 Neutropaenia with cardiac and urogenital malformations CCTCTTTCTGTTCTACTTCCCCGCGGCCTA[C/G]TACGCCTCCCGCCGTGTGGGCATCGCGGTG 19118303 chr17 42147861 42148733 G6PC3 S chr17_41368874_41369001_10101_1 1 chr17 42148477 42148478 CM090106 + 1 DM NULL G6PC3 Neutropaenia with cardiac and urogenital malformations CTTTCTGTTCTACTTCCCCGCGGCCTACTA[C/A]GCCTCCCGCCGTGTGGGCATCGCGGTGCTC 19118303 chr17 42147861 42148733 G6PC3 S chr17_41368874_41369001_10101_1 1 chr17 42148541 42148542 CI118966 + 6 DM NULL G6PC3 Neutropaenia: congenital TCAGCCTCATCACCGAGTGGCTCAACCTCA[-/C]TCTTCAAGTGGTGAGACAGAGAAGCCCTCC 22050868 chr17 42147861 42148733 G6PC3 S chr17_41368874_41369001_10101_1 1 chr17 42148543 42148544 CD098904 + 5 DM NULL G6PC3 Neutropaenia: congenital CAGCCTCATCACCGAGTGGCTCAACCTCAT[C/-]TTCAAGTGGTGAGACAGAGAAGCCCTCCGG 19775295 chr17 42147861 42148733 G6PC3 S chr17_41368874_41369001_10101_1 1 chr17 42148552 42148553 CS118965 + 2 DM NULL G6PC3 Neutropaenia: congenital CACCGAGTGGCTCAACCTCATCTTCAAGTG[G/A]tgagacagagaagccctccggcatcctggt 22050868 chr17 42200563 42201685 HDAC5 S chr17_41368874_41369001_10101_1 1 . -1 -1 . -1 . . . . . . . chr17 42215472 42215904 C17orf53 F chr17_42216077_42216233_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 42215488 42219774 C17orf53 F chr17_42216077_42216204_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 42218984 42220107 C17orf53 S chr17_41220712_41221489_11001_4:chr17_41368874_41369001_10101_1 2 . -1 -1 . -1 . . . . . . . chr17 42275900 42278381 ATXN7L3 S chr17_41368874_41369001_10101_1 1 . -1 -1 . -1 . . . . . . . chr17 42278333 42278607 ATXN7L3 F chr17_42277400_42277729_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 42295458 42299013 UBTF S chr17_41368874_41369001_10101_1 1 . -1 -1 . -1 . . . . . . . chr17 42401716 42404346 SLC25A39 F chr17_42404279_42404410_11101_1 1 . -1 -1 . -1 . . . . . . . chr17 42404001 42404290 SLC25A39 F chr17_42404279_42404346_11101_1 1 . -1 -1 . -1 . . . . . . . chr17 42422284 42423329 GRN S chr17_41534239_41534800_11100_4:chr17_41849314_41849665_11000_2:chr17_41850327_41850513_10001_1 3 chr17 42422527 42422528 CR084963 + 3 DM? NULL GRN Amyotrophic lateral sclerosis AGGAAGCAGGGAGGAGAGTGATTTGAGTAG[A/G]AAAGAAACACAGCATTCCAGGCTGGCCCCA 18184915 chr17 42422284 42423329 GRN S chr17_41534239_41534800_11100_4:chr17_41849314_41849665_11000_2:chr17_41850327_41850513_10001_1 3 chr17 42422638 42422639 CR072310 + 3 DM? rs76783532 GRN Frontotemporal dementia CAATGGAAACTGAGGTAGGCGGGTCATCGC[G/T]CTGGGGTCTGTAGTCTGAGCGCTACCCGGT 17345602 chr17 42422284 42423329 GRN S chr17_41534239_41534800_11100_4:chr17_41849314_41849665_11000_2:chr17_41850327_41850513_10001_1 3 chr17 42422705 42422706 CS075159 + 2 DM rs63751020 GRN Frontotemporal dementia TGCCCAAGGACCGCGGAGTCGGACGCAGgt[A/T]ggagagcggccgcgcagacctctcgcctgc 17436289 chr17 42422284 42423329 GRN S chr17_41534239_41534800_11100_4:chr17_41849314_41849665_11000_2:chr17_41850327_41850513_10001_1 3 chr17 42422707 42422708 CS063317 + 2 DM rs63750313 GRN Frontotemporal dementia CCCAAGGACCGCGGAGTCGGACGCAGgtag[G/C]agagcggccgcgcagacctctcgcctgctc 16862115 chr17 42422284 42423329 GRN S chr17_41534239_41534800_11100_4:chr17_41849314_41849665_11000_2:chr17_41850327_41850513_10001_1 3 chr17 42422748 42422749 CR072311 + 3 DM? NULL GRN Frontotemporal dementia CGCAGACCTCTCGCCTGCTCCTGCCCAGGG[G/T]CCCGCCAGGGCCATGTGAGCTTGAGGTTCC 17345602 chr17 42422284 42423329 GRN S chr17_41534239_41534800_11100_4:chr17_41849314_41849665_11000_2:chr17_41850327_41850513_10001_1 3 chr17 42422891 42422892 CR072312 + 3 DM? NULL GRN Frontotemporal dementia GGAAAGAGGAAGCAGTAATTGCAGTGACGC[C/T]CCGTTAGAAGGGGCTTTCTACCTCCCCAGC 17345602 chr17 42425585 42425836 GRN F chr17_42422387_42422654_11111_3 1 . -1 -1 . -1 . . . . . . . chr17 43208800 43209346 GRN S chr17_42422387_42422654_11111_3 1 . -1 -1 . -1 . . . . . . . chr17 43208800 43209346 PLCD3 S chr17_43212876_43213152_11111_3 1 . -1 -1 . -1 . . . . . . . chr17 43221862 43221955 HEXIM1 F chr17_43225127_43225184_11111_2 1 . -1 -1 . -1 . . . . . . . chr17 43863369 43863507 CRHR1 F chr17_43862385_43862560_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 44269665 44272299 KIAA1267 F chr17_44271677_44271755_10001_2 1 . -1 -1 . -1 . . . . . . . chr17 44269771 44272299 KIAA1267 F chr17_44271677_44271755_10001_2 1 . -1 -1 . -1 . . . . . . . chr17 44271977 44272219 KIAA1267 F chr17_44271442_44271755_10001_2:chr17_44271442_44271755_10001_2 2 . -1 -1 . -1 . . . . . . . chr17 45771040 45773130 TBKBP1 F chr17_45770713_45770811_10001_2 1 . -1 -1 . -1 . . . . . . . chr17 48278107 48278282 LRRC59 S chr17_48473654_48473877_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 48536075 48536967 NME2 S chr17_49230601_49230840_10111_2 1 . -1 -1 . -1 . . . . . . . chr17 48737515 48739780 NME2 S chr17_49230601_49230840_10111_2 1 . -1 -1 . -1 . . . . . . . chr17 48834243 48834800 NME2 S chr17_49230601_49230840_10111_2 1 . -1 -1 . -1 . . . . . . . chr17 49134373 49135134 ANKRD40 S chr17_48784442_48784484_10000_1:chr17_48785245_48785404_11111_2 2 . -1 -1 . -1 . . . . . . . chr17 49134373 49135134 LRRC59 S chr17_48473654_48473877_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 49134373 49135134 NME2 S chr17_49230601_49230840_10111_2 1 . -1 -1 . -1 . . . . . . . chr17 49134373 49135134 TOB1 S chr17_48942313_48942411_11111_1:chr17_48943715_48944164_11101_1:chr17_48944760_48945214_11101_2 3 . -1 -1 . -1 . . . . . . . chr17 49230552 49231721 NME2 S chr17_48536311_48536787_11000_4:chr17_48737653_48738205_10000_2:chr17_48739171_48739390_11101_2:chr17_48834552_48834741_10001_2 4 . -1 -1 . -1 . . . . . . . chr17 52977814 52978613 TOM1L1 S chr17_53523458_53523663_10000_1:chr17_53523984_53524410_11000_3 2 . -1 -1 . -1 . . . . . . . chr17 53523200 53524717 TOM1L1 S chr17_52978007_52978198_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 54987224 54987877 TRIM25 F chr17_54987536_54987912_11000_1:chr17_54989602_54990093_11000_4:chr17_54991367_54991578_11000_1 3 . -1 -1 . -1 . . . . . . . chr17 54987350 54991909 TRIM25 F chr17_54987536_54987912_11000_1 1 . -1 -1 . -1 . . . . . . . chr17 54990908 54993482 TRIM25 F chr17_54993166_54993413_10000_3 1 . -1 -1 . -1 . . . . . . . chr17 54993018 54993544 TRIM25 F chr17_54991367_54991578_11000_1:chr17_54993166_54993413_10000_3 2 . -1 -1 . -1 . . . . . . . chr17 54994598 54994773 TRIM25 F chr17_54991367_54991578_11000_1:chr17_54993166_54993413_10000_3 2 . -1 -1 . -1 . . . . . . . chr17 55184952 55185511 ENSG00000121083 S chr17_56161836_56162253_11111_2 1 . -1 -1 . -1 . . . . . . . chr17 55952409 55953483 COIL S chr17_55038389_55038558_11000_1 1 . -1 -1 . -1 . . . . . . . chr17 55952409 55953483 ENSG00000121083 S chr17_56161836_56162253_11111_2 1 . -1 -1 . -1 . . . . . . . chr17 55952409 55953483 ENSG00000212195 S chr17_56708979_56709511_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 55952409 55953483 MTMR4 S chr17_56594320_56594637_11111_1:chr17_56595502_56595699_11111_1 2 . -1 -1 . -1 . . . . . . . chr17 55952409 55953483 RNF43 S chr17_56494879_56495147_11111_3 1 . -1 -1 . -1 . . . . . . . chr17 55984392 55984785 MTMR4 S chr17_56594320_56594637_11111_1:chr17_56595502_56595699_11111_1 2 . -1 -1 . -1 . . . . . . . chr17 56072706 56072924 ENSG00000212195 S chr17_56708979_56709511_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 56072706 56072924 MTMR4 S chr17_56594320_56594637_11111_1:chr17_56595502_56595699_11111_1 2 . -1 -1 . -1 . . . . . . . chr17 56072706 56072924 RNF43 S chr17_56494879_56495147_11111_3 1 . -1 -1 . -1 . . . . . . . chr17 56426877 56426962 SUPT4H1 F chr17_56429463_56429832_11111_2 1 . -1 -1 . -1 . . . . . . . chr17 56428194 56428499 SUPT4H1 F chr17_56429463_56429832_11111_2 1 . -1 -1 . -1 . . . . . . . chr17 56471800 56472600 MTMR4 S chr17_56594320_56594637_11111_1:chr17_56595502_56595699_11111_1 2 . -1 -1 . -1 . . . . . . . chr17 56594271 56596295 MTMR4 S chr17_57542442_57542833_10000_3:chr17_57543060_57543299_10000_4:chr17_57547258_57547525_10000_3 3 . -1 -1 . -1 . . . . . . . chr17 56708539 56709893 ENSG00000212195 S chr17_57542442_57542833_10000_3:chr17_57543060_57543299_10000_4 2 . -1 -1 . -1 . . . . . . . chr17 57406878 57407294 YPEL2 S chr17_57542442_57542833_10000_3:chr17_57543060_57543299_10000_4:chr17_57930628_57930799_10101_1 3 . -1 -1 . -1 . . . . . . . chr17 57408552 57410044 YPEL2 F chr17_57410282_57410297_11010_1 1 . -1 -1 . -1 . . . . . . . chr17 57409405 57410180 YPEL2 S chr17_57930628_57930799_10101_1 1 . -1 -1 . -1 . . . . . . . chr17 57409690 57409997 YPEL2 F chr17_57408980_57409114_11101_1 1 . -1 -1 . -1 . . . . . . . chr17 57542229 57543299 ENSG00000212195 S chr17_56708979_56709511_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 57542229 57543299 MTMR4 S chr17_56594320_56594637_11111_1:chr17_56595502_56595699_11111_1 2 . -1 -1 . -1 . . . . . . . chr17 57542229 57543299 YPEL2 S chr17_57407061_57407294_11011_2 1 . -1 -1 . -1 . . . . . . . chr17 57546657 57547741 MTMR4 S chr17_56594320_56594637_11111_1:chr17_56595502_56595699_11111_1 2 . -1 -1 . -1 . . . . . . . chr17 57787983 57788139 VMP1 F chr17_57784775_57785056_11011_2 1 . -1 -1 . -1 . . . . . . . chr17 57930084 57932400 PPM1D S chr17_58677481_58677644_11111_1:chr17_58678437_58678754_10100_1 2 . -1 -1 . -1 . . . . . . . chr17 57930084 57932400 YPEL2 S chr17_57407061_57407294_11011_2 1 . -1 -1 . -1 . . . . . . . chr17 58467546 58470086 USP32 F chr17_58467646_58467836_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 58467674 58467818 USP32 F chr17_58467646_58467836_10000_1:chr17_58469429_58469861_10010_1 2 . -1 -1 . -1 . . . . . . . chr17 58468371 58468697 USP32 F chr17_58469429_58469861_10010_1 1 . -1 -1 . -1 . . . . . . . chr17 58676594 58678952 PPM1D S chr17_57930628_57930799_10101_1:chr17_59413420_59413666_11010_4:chr17_59413909_59414149_11010_1 3 chr17 58677906 58677907 CM137525 + 1 DM? rs373862041 PPM1D Breast and/or ovarian cancer CGGCTGAAGAAAAGCCCTCGCCGCGGCGGT[C/G]GCTGTCTCAGCCGTTGCCTCCGCGGCCGTC 23649806 chr17 58676594 58678952 PPM1D S chr17_57930628_57930799_10101_1:chr17_59413420_59413666_11010_4:chr17_59413909_59414149_11010_1 3 chr17 58678082 58678083 CM137526 + 1 DM? NULL PPM1D Breast and/or ovarian cancer CGCCGCCGTTCCTCCGTGGCCTTTTTCGCC[G/A]TGTGCGACGGGCACGGCGGGCGGGAGGCGG 23649806 chr17 58677043 58678997 PPM1D F chr17_58678437_58678754_10100_1 1 chr17 58677906 58677907 CM137525 + 1 DM? rs373862041 PPM1D Breast and/or ovarian cancer CGGCTGAAGAAAAGCCCTCGCCGCGGCGGT[C/G]GCTGTCTCAGCCGTTGCCTCCGCGGCCGTC 23649806 chr17 58677043 58678997 PPM1D F chr17_58678437_58678754_10100_1 1 chr17 58678082 58678083 CM137526 + 1 DM? NULL PPM1D Breast and/or ovarian cancer CGCCGCCGTTCCTCCGTGGCCTTTTTCGCC[G/A]TGTGCGACGGGCACGGCGGGCGGGAGGCGG 23649806 chr17 58678620 58678973 PPM1D F chr17_58677481_58677644_11111_1:chr17_58678437_58678754_10100_1 2 . -1 -1 . -1 . . . . . . . chr17 59412267 59414258 PPM1D S chr17_58677481_58677644_11111_1:chr17_58678437_58678754_10100_1 2 . -1 -1 . -1 . . . . . . . chr17 59489715 59490837 C17orf82 S chr17_59413420_59413666_11010_4:chr17_59413909_59414149_11010_1 2 . -1 -1 . -1 . . . . . . . chr17 59939507 59939855 BRIP1 F chr17_59940929_59941184_10111_1 1 . -1 -1 . -1 . . . . . . . chr17 60142156 60143582 MED13 S chr17_59413420_59413666_11010_4:chr17_59413909_59414149_11010_1 2 . -1 -1 . -1 . . . . . . . chr17 61655207 61655800 ENSG00000108654 S chr17_62502379_62502908_11111_2 1 . -1 -1 . -1 . . . . . . . chr17 62224800 62225760 ENSG00000108654 S chr17_62502379_62502908_11111_2 1 . -1 -1 . -1 . . . . . . . chr17 62264800 62265112 ENSG00000108654 S chr17_62502379_62502908_11111_2 1 . -1 -1 . -1 . . . . . . . chr17 62403904 62404562 PECAM1 F chr17_62404086_62404340_11000_2 1 . -1 -1 . -1 . . . . . . . chr17 62404033 62407583 PECAM1 F chr17_62404086_62404340_11000_2 1 . -1 -1 . -1 . . . . . . . chr17 62492453 62493799 ENSG00000256525 S chr17_62224800_62225044_11010_3:chr17_62227562_62228030_11010_3:chr17_62264800_62264931_10000_3 3 chr17 62492630 62492631 CM115938 - 1 DM? rs149446102 POLG2 Mitochondrial disease AGTGCCTTCAGGTTAGTTTCTGCAGAAACT[C/G]TACGCGAAATCTTGCAAGACAAAGAGCTGA 21555342 chr17 62492453 62493799 ENSG00000256525 S chr17_62224800_62225044_11010_3:chr17_62227562_62228030_11010_3:chr17_62264800_62264931_10000_3 3 chr17 62492780 62492781 CM115937 - 1 DM? rs200118378 POLG2 Mitochondrial disease AGTGGGTGCCACCCCGGCTTCGGACCCTTG[G/A]GCGTAGAGTTGCGGAAGAACCTGGCCGCAG 21555342 chr17 62501081 62503922 ENSG00000108654 S chr17_62224800_62225044_11010_3:chr17_62264800_62264931_10000_3 2 . -1 -1 . -1 . . . . . . . chr17 63053851 63054126 GNA13 F chr17_63052963_63053157_11101_2 1 . -1 -1 . -1 . . . . . . . chr17 65243162 65243488 HELZ F chr17_65241270_65241562_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 65268401 65268858 NOL11 S chr17_65713765_65714100_11010_2 1 . -1 -1 . -1 . . . . . . . chr17 65624888 65625036 NOL11 S chr17_65713765_65714100_11010_2 1 . -1 -1 . -1 . . . . . . . chr17 65713521 65714935 NOL11 S chr17_66259476_66259494_11000_1 1 . -1 -1 . -1 . . . . . . . chr17 65820901 65822558 ENSG00000171634 S chr17_66773695_66773853_10000_1:chr17_66774225_66774399_11000_4:chr17_66790048_66790463_10000_4 3 . -1 -1 . -1 . . . . . . . chr17 65989264 65990909 C17orf58 F chr17_65991017_65991174_10000_3 1 . -1 -1 . -1 . . . . . . . chr17 65989264 65991787 C17orf58 F chr17_65991134_65991483_10000_3:chr17_65991930_65992039_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 65991434 65991739 C17orf58 F chr17_65991017_65991483_10000_3 1 . -1 -1 . -1 . . . . . . . chr17 66259476 66259787 NOL11 S chr17_65713765_65714100_11010_2 1 . -1 -1 . -1 . . . . . . . chr17 66287257 66288956 ENSG00000108932 S chr17_66773695_66773853_10000_1:chr17_66774225_66774399_11000_4:chr17_66790048_66790463_10000_4 3 . -1 -1 . -1 . . . . . . . chr17 66394816 66395248 NOL11 S chr17_65713765_65714100_11010_2 1 . -1 -1 . -1 . . . . . . . chr17 66452400 66454153 WIPI1 F chr17_66452377_66452580_11000_1:chr17_66452900_66452982_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 66452519 66452682 WIPI1 F chr17_66452400_66452580_11000_1:chr17_66452900_66453095_10000_1:chr17_66453802_66454071_10000_3 3 . -1 -1 . -1 . . . . . . . chr17 66509186 66509763 PRKAR1A F chr17_66507609_66507824_11000_1 1 . -1 -1 . -1 . . . . . . . chr17 66596594 66598301 FAM20A F chr17_66597581_66597616_11000_2 1 chr17 66596773 66596774 CD120329 - 5 DM NULL FAM20A Amelogenesis imperfecta & gingival hyperplasia syndrome CCGGGGCTGCGCCGGGACCGCCTACTGACT[CT/-]GCTGCTGCTGGGCGCGCTGCTCTCCGCCGA 21990045 chr17 66597881 66598319 FAM20A F chr17_66597394_66597616_11000_2 1 . -1 -1 . -1 . . . . . . . chr17 66610000 66610276 NOL11 S chr17_65713765_65714100_11010_2 1 . -1 -1 . -1 . . . . . . . chr17 70122200 70123400 SOX9 S chr17_70116264_70116387_11100_1 1 . -1 -1 . -1 . . . . . . . chr17 70408715 70410400 CPSF4L S chr17_71258287_71258701_11010_3 1 . -1 -1 . -1 . . . . . . . chr17 70586992 70589126 LINC00511 S chr17_71285016_71285380_11000_1 1 . -1 -1 . -1 . . . . . . . chr17 71085897 71086274 SLC39A11 F chr17_71086759_71086960_11000_2 1 . -1 -1 . -1 . . . . . . . chr17 71284600 71286268 RPL38 S chr17_72199675_72199835_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 71794400 71794933 GPRC5C S chr17_72439000_72439188_11010_4:chr17_72439451_72439695_11000_2 2 . -1 -1 . -1 . . . . . . . chr17 71794400 71794933 RPL38 S chr17_72199675_72199835_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 71794400 71794933 SLC9A3R1 S chr17_72744594_72744826_10101_1:chr17_72746515_72746951_11111_2 2 . -1 -1 . -1 . . . . . . . chr17 72199675 72200563 RPL38 S chr17_71285016_71285380_11000_1:chr17_71794400_71794782_11000_3:chr17_72438753_72439000_11010_4 3 . -1 -1 . -1 . . . . . . . chr17 72201701 72201889 RPL38 S chr17_71285016_71285380_11000_1 1 . -1 -1 . -1 . . . . . . . chr17 72426026 72426159 GPRC5C F chr17_72426972_72427179_11010_3:chr17_72427371_72427848_11010_1:chr17_72428102_72428167_11010_2 3 . -1 -1 . -1 . . . . . . . chr17 72438600 72439000 GPRC5C S chr17_72439000_72439188_11010_4:chr17_72439451_72439695_11000_2 2 . -1 -1 . -1 . . . . . . . chr17 72438600 72439000 RPL38 S chr17_72199675_72199835_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 72438600 72439000 SLC9A3R1 S chr17_72744594_72744826_10101_1:chr17_72746515_72746951_11111_2 2 . -1 -1 . -1 . . . . . . . chr17 72439000 72439695 GPRC5C S chr17_71794400_71794782_11000_3:chr17_72438753_72439000_11010_4 2 . -1 -1 . -1 . . . . . . . chr17 72524644 72528113 CD300LB F chr17_72524814_72524966_11000_1 1 . -1 -1 . -1 . . . . . . . chr17 72524673 72525015 CD300LB F chr17_72524814_72524966_11000_1 1 . -1 -1 . -1 . . . . . . . chr17 72728741 72729539 RAB37 F chr17_72732599_72732955_10000_4:chr17_72732599_72732955_10000_4 2 . -1 -1 . -1 . . . . . . . chr17 72734256 72734824 RAB37 F chr17_72732599_72732955_10000_4:chr17_72732855_72732955_10000_4 2 . -1 -1 . -1 . . . . . . . chr17 72744354 72747249 SLC9A3R1 S chr17_71794400_71794782_11000_3:chr17_72438753_72439000_11010_4:chr17_73693169_73693396_11000_1 3 chr17 72745188 72745189 CM122893 + 1 DM? rs139622189 SLC9A3R1 Renal lithiasis & decreased kidney phosphate reabsorption GGCTGGTGGAGGTGAACGGCGAAAACGTGG[A/C]GAAGGAGACCCACCAGCAGGTGGTGAGCCG 22506049 chr17 72744354 72747249 SLC9A3R1 S chr17_71794400_71794782_11000_3:chr17_72438753_72439000_11010_4:chr17_73693169_73693396_11000_1 3 chr17 72745313 72745314 CM085716 + 1 DM? rs35910969 SLC9A3R1 Nephrolithiasis/bone demineralization CAGAAGCTCGGCGTCCAGGTCCGAGAGGAG[C/G]TGCTGCGCGCCCAGGAAGCGCCGGGGCAGG 18784102 chr17 72769814 72770633 CASKIN2 S chr17_73511570_73511823_10111_1 1 . -1 -1 . -1 . . . . . . . chr17 72769814 72770633 GPRC5C S chr17_72439000_72439188_11010_4:chr17_72439451_72439695_11000_2 2 . -1 -1 . -1 . . . . . . . chr17 72769814 72770633 RPL38 S chr17_72199675_72199835_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 72769814 72770633 SLC9A3R1 S chr17_72744594_72744826_10101_1:chr17_72746515_72746951_11111_2 2 . -1 -1 . -1 . . . . . . . chr17 72776079 72776526 TMEM104 F chr17_72772447_72772654_11100_1:chr17_72774119_72774302_10111_1 2 . -1 -1 . -1 . . . . . . . chr17 73514344 73514665 TSEN54 F chr17_73513716_73513871_11000_1 1 . -1 -1 . -1 . . . . . . . chr17 73641652 73641951 LOC100130933 F chr17_73642265_73642621_11100_1 1 . -1 -1 . -1 . . . . . . . chr17 73693120 73694400 SLC9A3R1 S chr17_72744594_72744826_10101_1:chr17_72746515_72746951_11111_2 2 . -1 -1 . -1 . . . . . . . chr17 73774678 73776287 H3F3B S chr17_73693169_73693396_11000_1 1 . -1 -1 . -1 . . . . . . . chr17 73839777 73841809 UNC13D S chr17_73693169_73693396_11000_1:chr17_74592473_74592800_11000_4 2 chr17 73839907 73839908 CR136473 - 3 DM NULL UNC13D Haemophagocytic lymphohistiocytosis type 3 CCCTCACCTCCGCTGCCGAGCCTCACTTCC[G/A]CTGCTGGGTGAGGAGCAGCCGCCACTGATA 23672263 chr17 73839777 73841809 UNC13D S chr17_73693169_73693396_11000_1:chr17_74592473_74592800_11000_4 2 chr17 73839908 73839909 CR119988 - 3 DM NULL UNC13D Haemophagocytic lymphohistiocytosis type 3 CCCCTCACCTCCGCTGCCGAGCCTCACTTC[C/T]GCTGCTGGGTGAGGAGCAGCCGCCACTGAT 21931115 chr17 73839777 73841809 UNC13D S chr17_73693169_73693396_11000_1:chr17_74592473_74592800_11000_4 2 chr17 73840243 73840244 CS113900 - 2 DM? rs3744010 UNC13D Haemophagocytic lymphohistiocytosis: familial tggccttggggagcactgtggtctcgggta[C/T]gggtgccctgctgtctggccccacctctcg 21248318 chr17 73842000 73843800 MFSD11 S chr17_74732333_74732478_10010_1:chr17_74733440_74733554_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 73844400 73845337 CASKIN2 S chr17_73511570_73511823_10111_1 1 . -1 -1 . -1 . . . . . . . chr17 73844400 73845337 JMJD6 S chr17_74722619_74722864_10010_2 1 . -1 -1 . -1 . . . . . . . chr17 73844400 73845337 LLGL2 S chr17_73553225_73553838_11111_3 1 . -1 -1 . -1 . . . . . . . chr17 73844400 73845337 MFSD11 S chr17_74732333_74732478_10010_1:chr17_74733440_74733554_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 73844400 73845337 RECQL5 S chr17_73663216_73663390_10110_2 1 . -1 -1 . -1 . . . . . . . chr17 73844400 73845337 SMIM6 S chr17_73642265_73642621_11100_1 1 . -1 -1 . -1 . . . . . . . chr17 73844400 73845337 SNHG16 S chr17_74553014_74553849_11000_2 1 . -1 -1 . -1 . . . . . . . chr17 73844400 73845337 TRIM47 S chr17_73872189_73872365_10000_1:chr17_73872760_73872997_10000_2:chr17_73873400_73873596_10000_1:chr17_73874018_73874243_10100_1 4 . -1 -1 . -1 . . . . . . . chr17 73850621 73850811 WBP2 F chr17_73851454_73851807_11111_2 1 . -1 -1 . -1 . . . . . . . chr17 73851010 73852624 WBP2 S chr17_74592473_74592800_11000_4 1 . -1 -1 . -1 . . . . . . . chr17 73854851 73855120 WBP2 F chr17_73851454_73851807_11111_2 1 . -1 -1 . -1 . . . . . . . chr17 74347873 74348065 PRPSAP1 S chr17_75303074_75303301_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 74348834 74350666 PRPSAP1 S chr17_75303074_75303301_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 74372244 74373291 SPHK1 S chr17_75303074_75303301_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 74377401 74382445 PRPSAP1 S chr17_73693169_73693396_11000_1:chr17_74592473_74592800_11000_4:chr17_75142194_75142301_10000_1:chr17_75303074_75303301_10000_1:chr17_75309391_75309585_11000_3:chr17_75373314_75373664_11011_3:chr17_75381816_75382003_10100_1:chr17_75382345_75382532_10100_2 8 . -1 -1 . -1 . . . . . . . chr17 74382551 74382800 PRPSAP1 S chr17_73693169_73693396_11000_1:chr17_75303074_75303301_10000_1:chr17_75309391_75309585_11000_3:chr17_75381816_75382003_10100_1:chr17_75382345_75382532_10100_2:chr17_75382703_75382728_10100_2 6 . -1 -1 . -1 . . . . . . . chr17 74448346 74449400 AANAT S chr17_75303074_75303301_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 74495334 74495715 RHBDF2 S chr17_75303074_75303301_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 74553014 74554847 SNHG16 S chr17_75303074_75303301_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 74556314 74556465 SNHG16 S chr17_75303074_75303301_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 74592400 74592800 SEC14L1 S chr17_75084567_75084773_11100_1 1 . -1 -1 . -1 . . . . . . . chr17 74592400 74592800 WBP2 S chr17_73851454_73851807_11111_2 1 . -1 -1 . -1 . . . . . . . chr17 74721957 74723577 JMJD6 S chr17_75303074_75303301_10000_1:chr17_75309391_75309585_11000_3:chr17_75381816_75382003_10100_1:chr17_75382345_75382532_10100_2:chr17_75382703_75382728_10100_2 5 . -1 -1 . -1 . . . . . . . chr17 74723995 74724371 METTL23 F chr17_74722619_74722864_10010_2 1 . -1 -1 . -1 . . . . . . . chr17 74732156 74734457 MFSD11 S chr17_75303074_75303301_10000_1:chr17_75373314_75373664_11011_3:chr17_75381816_75382003_10100_1:chr17_75382345_75382532_10100_2:chr17_75382703_75382728_10100_2:chr17_75456068_75456323_10000_2 6 . -1 -1 . -1 . . . . . . . chr17 75084466 75085508 SEC14L1 S chr17_74592473_74592800_11000_4:chr17_75303074_75303301_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 75134867 75135304 SEC14L1 F chr17_75136705_75136874_10000_2 1 . -1 -1 . -1 . . . . . . . chr17 75136214 75137793 SEC14L1 S chr17_75303074_75303301_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 75204000 75204938 JMJD6 S chr17_74722619_74722864_10010_2 1 . -1 -1 . -1 . . . . . . . chr17 75204000 75204938 SNHG16 S chr17_74553014_74553849_11000_2 1 . -1 -1 . -1 . . . . . . . chr17 75204000 75204938 TK1 S chr17_76183230_76183474_10001_1:chr17_76183976_76184265_10001_4 2 . -1 -1 . -1 . . . . . . . chr17 75204000 75204938 TMC6 S chr17_76123716_76123881_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 75281791 75284000 ENSG00000184640 S chr17_75303074_75303301_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 75282703 75283463 SEPT9 F chr17_75282883_75283061_11010_3:chr17_75283301_75283411_11000_1:chr17_75283795_75284078_10010_1 3 . -1 -1 . -1 . . . . . . . chr17 75282883 75284473 SEPT9 F chr17_75282403_75283061_11010_3:chr17_75283301_75283411_11000_1 2 . -1 -1 . -1 . . . . . . . chr17 75284800 75285535 ENSG00000184640 S chr17_75303074_75303301_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 75295503 75296719 JMJD6 S chr17_74722619_74722864_10010_2 1 . -1 -1 . -1 . . . . . . . chr17 75295503 75296719 SNHG16 S chr17_74553014_74553849_11000_2 1 . -1 -1 . -1 . . . . . . . chr17 75295503 75296719 TK1 S chr17_76183230_76183474_10001_1:chr17_76183976_76184265_10001_4:chr17_76186268_76186467_10001_1 3 . -1 -1 . -1 . . . . . . . chr17 75295503 75296719 TMC6 S chr17_76123716_76123881_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 75301000 75301400 JMJD6 S chr17_74722619_74722864_10010_2 1 . -1 -1 . -1 . . . . . . . chr17 75301000 75301400 TMC6 S chr17_76123716_76123881_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 75302800 75303600 ENSG00000184640 S chr17_75281952_75282074_10000_1:chr17_75282253_75283061_11010_3:chr17_75283301_75283411_11000_1:chr17_75283795_75284000_10010_1:chr17_75284955_75285177_10000_2:chr17_75447450_75447593_11110_1 6 . -1 -1 . -1 . . . . . . . chr17 75302800 75303600 JMJD6 S chr17_74722619_74722864_10010_2 1 . -1 -1 . -1 . . . . . . . chr17 75302800 75303600 MFSD11 S chr17_74732333_74732478_10010_1:chr17_74733440_74733554_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 75302800 75303600 PRPSAP1 S chr17_74347938_74348065_11011_3 1 . -1 -1 . -1 . . . . . . . chr17 75302800 75303600 SEC14L1 S chr17_75084567_75084773_11100_1:chr17_75136705_75136874_10000_2 2 . -1 -1 . -1 . . . . . . . chr17 75302800 75303600 SNHG16 S chr17_74553014_74553849_11000_2 1 . -1 -1 . -1 . . . . . . . chr17 75302800 75303600 SYNGR2 S chr17_76164520_76164683_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 75302800 75303600 TK1 S chr17_76183230_76183474_10001_1:chr17_76183976_76184265_10001_4:chr17_76186268_76186467_10001_1 3 . -1 -1 . -1 . . . . . . . chr17 75302800 75303600 TMC6 S chr17_76123716_76123881_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 75309200 75309687 JMJD6 S chr17_74722619_74722864_10010_2 1 . -1 -1 . -1 . . . . . . . chr17 75318668 75319928 ENSG00000184640 S chr17_75447450_75447593_11110_1 1 . -1 -1 . -1 . . . . . . . chr17 75318668 75319928 JMJD6 S chr17_74722619_74722864_10010_2 1 . -1 -1 . -1 . . . . . . . chr17 75318668 75319928 MFSD11 S chr17_74732333_74732478_10010_1:chr17_74733440_74733554_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 75318668 75319928 SNHG16 S chr17_74553014_74553849_11000_2 1 . -1 -1 . -1 . . . . . . . chr17 75318668 75319928 TK1 S chr17_76183230_76183474_10001_1:chr17_76183976_76184265_10001_4 2 . -1 -1 . -1 . . . . . . . chr17 75318668 75319928 TMC6 S chr17_76123716_76123881_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 75368646 75370942 ENSG00000184640 S chr17_75303074_75303301_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 75371571 75371830 ENSG00000184640 S chr17_75303074_75303301_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 75372178 75372301 ENSG00000184640 S chr17_75303074_75303301_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 75372831 75373200 ENSG00000184640 S chr17_75303074_75303301_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 75373200 75373800 MFSD11 S chr17_74732333_74732478_10010_1:chr17_74733440_74733554_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 75373200 75373800 TMC6 S chr17_76123716_76123881_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 75378400 75378936 JMJD6 S chr17_74722619_74722864_10010_2 1 . -1 -1 . -1 . . . . . . . chr17 75378400 75378936 TK1 S chr17_76183230_76183474_10001_1:chr17_76183976_76184265_10001_4:chr17_76186268_76186467_10001_1 3 . -1 -1 . -1 . . . . . . . chr17 75378400 75378936 TMC6 S chr17_76123716_76123881_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 75381800 75382532 JMJD6 S chr17_74722619_74722864_10010_2 1 . -1 -1 . -1 . . . . . . . chr17 75381800 75382532 MFSD11 S chr17_74732333_74732478_10010_1:chr17_74733440_74733554_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 75381800 75382532 TK1 S chr17_76183230_76183474_10001_1:chr17_76183976_76184265_10001_4:chr17_76186268_76186467_10001_1 3 . -1 -1 . -1 . . . . . . . chr17 75381800 75382532 TMC6 S chr17_76123716_76123881_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 75382703 75382800 ENSG00000184640 S chr17_75447450_75447593_11110_1 1 . -1 -1 . -1 . . . . . . . chr17 75382703 75382800 JMJD6 S chr17_74722619_74722864_10010_2 1 . -1 -1 . -1 . . . . . . . chr17 75382703 75382800 MFSD11 S chr17_74732333_74732478_10010_1:chr17_74733440_74733554_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 75382703 75382800 TK1 S chr17_76183230_76183474_10001_1:chr17_76183976_76184265_10001_4:chr17_76186268_76186467_10001_1 3 . -1 -1 . -1 . . . . . . . chr17 75382703 75382800 TMC6 S chr17_76123716_76123881_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 75385861 75386248 TK1 S chr17_76183230_76183474_10001_1:chr17_76183976_76184265_10001_4 2 . -1 -1 . -1 . . . . . . . chr17 75385861 75386248 TMC6 S chr17_76123716_76123881_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 75445564 75448718 ENSG00000184640 S chr17_75303074_75303301_10000_1:chr17_75382703_75382728_10100_2:chr17_75456068_75456323_10000_2 3 . -1 -1 . -1 . . . . . . . chr17 75456000 75456600 ENSG00000184640 S chr17_75447450_75447593_11110_1 1 . -1 -1 . -1 . . . . . . . chr17 75456000 75456600 MFSD11 S chr17_74732333_74732478_10010_1:chr17_74733440_74733554_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 75456000 75456600 TK1 S chr17_76183230_76183474_10001_1:chr17_76183976_76184265_10001_4 2 . -1 -1 . -1 . . . . . . . chr17 75456000 75456600 TMC6 S chr17_76123716_76123881_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 76122879 76123015 TMC6 S chr17_75303074_75303301_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 76123284 76125511 TMC6 S chr17_75303074_75303301_10000_1:chr17_75373314_75373664_11011_3:chr17_75381816_75382003_10100_1:chr17_75382345_75382532_10100_2:chr17_75382703_75382728_10100_2:chr17_75385924_75386138_10000_1:chr17_75456068_75456323_10000_2 7 . -1 -1 . -1 . . . . . . . chr17 76164281 76165243 SYNGR2 S chr17_75303074_75303301_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 76165522 76165638 SYNGR2 S chr17_75303074_75303301_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 76165603 76166001 SYNGR2 F chr17_76164520_76164683_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 76165925 76166050 SYNGR2 S chr17_75303074_75303301_10000_1:chr17_75381816_75382003_10100_1:chr17_75382345_75382532_10100_2 3 . -1 -1 . -1 . . . . . . . chr17 76182847 76184613 TK1 S chr17_75303074_75303301_10000_1:chr17_75381816_75382003_10100_1:chr17_75382345_75382532_10100_2:chr17_75382703_75382728_10100_2:chr17_75385924_75386138_10000_1:chr17_75456068_75456323_10000_2 6 . -1 -1 . -1 . . . . . . . chr17 76186253 76186567 TK1 S chr17_75303074_75303301_10000_1:chr17_75381816_75382003_10100_1:chr17_75382345_75382532_10100_2:chr17_75382703_75382728_10100_2 4 . -1 -1 . -1 . . . . . . . chr17 76186744 76186849 TK1 S chr17_75303074_75303301_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 76187118 76187239 TK1 S chr17_75303074_75303301_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 76210076 76210906 BIRC5 S chr17_75303074_75303301_10000_1 1 chr17 76210367 76210368 CR087414 + 3 DFP rs9904341 BIRC5 Lung cancer: lower risk: association with GCGCGCCATTAACCGCCAGATTTGAATCGC[C/G]GGACCCGTTGGCAGAGGTGGCGGCGGCGGC 17961802 chr17 76355657 76357244 SOCS3 F chr17_76356984_76357104_10101_1 1 chr17 76356096 76356097 CR043664 - 3 DP rs12953258 SOCS3 Increased whole-body insulin sensitivity: association with CCGCTTCGGCCCCGCACGCAGCCAGCCGCC[C/A]GCCGCCCGCCCGGCCCAGCTCCCGCCGCGG 15249995 chr17 76356993 76357093 SOCS3 F chr17_76356162_76356405_11100_1:chr17_76356984_76357104_10101_1 2 . -1 -1 . -1 . . . . . . . chr17 76371378 76375235 PGS1 F chr17_76371912_76371984_11000_3 1 . -1 -1 . -1 . . . . . . . chr17 76371473 76371684 PGS1 F chr17_76371912_76372100_11000_3:chr17_76374610_76374772_11101_1 2 . -1 -1 . -1 . . . . . . . chr17 76371853 76372298 PGS1 F chr17_76371912_76372100_11000_3:chr17_76374610_76374772_11101_1 2 . -1 -1 . -1 . . . . . . . chr17 76371875 76375235 PGS1 F chr17_76371912_76372100_11000_3 1 . -1 -1 . -1 . . . . . . . chr17 76377337 76378350 PGS1 F chr17_76374610_76374772_11101_1 1 . -1 -1 . -1 . . . . . . . chr17 76597536 76598569 TK1 S chr17_76183230_76183474_10001_1:chr17_76183976_76184265_10001_4 2 . -1 -1 . -1 . . . . . . . chr17 76775899 76776536 CYTH1 F chr17_76777244_76777521_10101_2:chr17_76778553_76778714_11111_1 2 . -1 -1 . -1 . . . . . . . chr17 78238527 78238862 RNF213 F chr17_78235223_78235475_10000_1:chr17_78237276_78237422_10100_2 2 . -1 -1 . -1 . . . . . . . chr17 79008446 79011458 BAIAP2 F chr17_79010845_79011053_11100_1:chr17_79011512_79011669_11101_1 2 . -1 -1 . -1 . . . . . . . chr17 79011145 79011369 BAIAP2 F chr17_79010107_79010267_10000_1:chr17_79010844_79011053_11100_1 2 . -1 -1 . -1 . . . . . . . chr17 79214761 79214923 ENTHD2 S chr17_80197634_80198208_10000_1:chr17_80200855_80201285_10000_2 2 . -1 -1 . -1 . . . . . . . chr17 79478817 79482500 ENSG00000184009 S chr17_80197634_80198208_10000_1 1 chr17 79478933 79478934 CM122513 - 1 DM rs281875325 ACTG1 Baraitser-Winter syndrome TGAACCCCAAGGCCAACAGAGAGAAGATGA[C/T]TCAGgtgaggctcggccgacgcccgtgctc 22366783 chr17 79478817 79482500 ENSG00000184009 S chr17_80197634_80198208_10000_1 1 chr17 79478938 79478939 CM094417 - 1 DM rs267606630 ACTG1 Deafness: dominant progressive CCCCCTGAACCCCAAGGCCAACAGAGAGAA[G/C]ATGACTCAGgtgaggctcggccgacgcccg 19477959 chr17 79478817 79482500 ENSG00000184009 S chr17_80197634_80198208_10000_1 1 chr17 79478939 79478940 CM032826 - 1 DM rs104894544 ACTG1 Deafness: dominant progressive CCCCCCTGAACCCCAAGGCCAACAGAGAGA[A/T]GATGACTCAGgtgaggctcggccgacgccc 13680526 chr17 79478817 79482500 ENSG00000184009 S chr17_80197634_80198208_10000_1 1 chr17 79479026 79479027 CM032825 - 1 DM rs28999111 ACTG1 Deafness: dominant progressive GGGACGACATGGAGAAGATCTGGCACCACA[C/T]CTTCTACAACGAGCTGCGCGTGGCCCCGGA 13680526 chr17 79478817 79482500 ENSG00000184009 S chr17_80197634_80198208_10000_1 1 chr17 79479141 79479142 CM094470 - 1 DM NULL ACTG1 Deafness: dominant progressive cagGGCGTCATGGTGGGCATGGGCCAGAAG[G/A]ACTCCTACGTGGGCGACGAGGCCCAGAGCA 19548389 chr17 79542622 79543000 ENSG00000245410 S chr17_80199547_80199758_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 79544000 79544748 ENSG00000245410 S chr17_80199547_80199758_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 79544000 79544748 PCYT2 S chr17_79868156_79868624_11111_1:chr17_79869577_79869744_11101_1 2 . -1 -1 . -1 . . . . . . . chr17 79544840 79544940 ENSG00000245410 S chr17_80199547_80199758_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 79668488 79669130 SLC25A10 S chr17_80197634_80198208_10000_1:chr17_80200855_80201285_10000_2:chr17_80526400_80526644_10000_3 3 . -1 -1 . -1 . . . . . . . chr17 79669263 79671408 SLC25A10 S chr17_80197634_80198208_10000_1:chr17_80200855_80201285_10000_2:chr17_80526400_80526644_10000_3 3 . -1 -1 . -1 . . . . . . . chr17 79678750 79681503 SLC25A10 S chr17_79823716_79824051_10101_2:chr17_80197634_80198208_10000_1:chr17_80200855_80201285_10000_2:chr17_80526400_80526644_10000_3 4 . -1 -1 . -1 . . . . . . . chr17 79817109 79818600 P4HB S chr17_80197634_80198208_10000_1:chr17_80200855_80201285_10000_2:chr17_80526400_80526644_10000_3 3 . -1 -1 . -1 . . . . . . . chr17 79823400 79824205 ARHGDIA S chr17_79829197_79829349_10100_1:chr17_79830151_79830226_10100_1 2 . -1 -1 . -1 . . . . . . . chr17 79823400 79824205 DCXR S chr17_79995244_79995843_11100_2 1 . -1 -1 . -1 . . . . . . . chr17 79823400 79824205 ENSG00000245410 S chr17_80199547_80199758_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 79823400 79824205 FASN S chr17_80054025_80054083_11000_1:chr17_80056125_80056235_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 79823400 79824205 LRRC45 S chr17_79980972_79981141_11101_1 1 . -1 -1 . -1 . . . . . . . chr17 79823400 79824205 MAFG S chr17_79884332_79884679_11000_1 1 . -1 -1 . -1 . . . . . . . chr17 79823400 79824205 NOTUM S chr17_79918114_79918368_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 79823400 79824205 PCYT2 S chr17_79868156_79868624_11111_1:chr17_79869577_79869744_11101_1 2 . -1 -1 . -1 . . . . . . . chr17 79823400 79824205 SLC25A10 S chr17_79678856_79679241_10101_2:chr17_79680731_79681001_10101_1 2 . -1 -1 . -1 . . . . . . . chr17 79827200 79830226 ARHGDIA S chr17_79823716_79824051_10101_2:chr17_80197634_80198208_10000_1:chr17_80200855_80201285_10000_2:chr17_80304409_80304635_10000_1:chr17_80483233_80483746_10000_4:chr17_80526400_80526644_10000_3 6 . -1 -1 . -1 . . . . . . . chr17 79867106 79867511 PCYT2 S chr17_80197634_80198208_10000_1:chr17_80200855_80201285_10000_2:chr17_80526400_80526644_10000_3 3 . -1 -1 . -1 . . . . . . . chr17 79867967 79869835 PCYT2 S chr17_79823716_79824051_10101_2:chr17_80197634_80198208_10000_1:chr17_80200855_80201285_10000_2:chr17_80483233_80483746_10000_4:chr17_80526400_80526644_10000_3 5 . -1 -1 . -1 . . . . . . . chr17 79876788 79876800 SIRT7 S chr17_80197634_80198208_10000_1:chr17_80200855_80201285_10000_2 2 . -1 -1 . -1 . . . . . . . chr17 79884103 79885268 MAFG S chr17_79823716_79824051_10101_2:chr17_80197634_80198208_10000_1:chr17_80200855_80201285_10000_2:chr17_80483233_80483746_10000_4:chr17_80526400_80526644_10000_3 5 . -1 -1 . -1 . . . . . . . chr17 79915698 79915791 NOTUM S chr17_80197634_80198208_10000_1:chr17_80200855_80201285_10000_2:chr17_80526400_80526644_10000_3 3 . -1 -1 . -1 . . . . . . . chr17 79916739 79918818 NOTUM S chr17_79823716_79824051_10101_2:chr17_80197634_80198208_10000_1:chr17_80200855_80201285_10000_2:chr17_80526400_80526644_10000_3:chr17_80699424_80699646_10000_3 5 . -1 -1 . -1 . . . . . . . chr17 79961080 79962400 ARHGDIA S chr17_79829197_79829349_10100_1:chr17_79830151_79830226_10100_1 2 . -1 -1 . -1 . . . . . . . chr17 79961080 79962400 DCXR S chr17_79995244_79995843_11100_2 1 . -1 -1 . -1 . . . . . . . chr17 79961080 79962400 ENSG00000245410 S chr17_80199547_80199758_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 79961080 79962400 FASN S chr17_80054025_80054083_11000_1:chr17_80056125_80056235_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 79961080 79962400 NOTUM S chr17_79918114_79918368_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 79961080 79962400 PCYT2 S chr17_79868156_79868624_11111_1:chr17_79869577_79869744_11101_1 2 . -1 -1 . -1 . . . . . . . chr17 79977511 79977800 FASN S chr17_80054025_80054083_11000_1:chr17_80056125_80056235_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 79978000 79978200 ARHGDIA S chr17_79829197_79829349_10100_1:chr17_79830151_79830226_10100_1 2 . -1 -1 . -1 . . . . . . . chr17 79978000 79978200 CSNK1D S chr17_80230641_80230753_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 79978000 79978200 DCXR S chr17_79995244_79995843_11100_2 1 . -1 -1 . -1 . . . . . . . chr17 79978000 79978200 ENSG00000245410 S chr17_80199547_80199758_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 79978000 79978200 FASN S chr17_80054025_80054083_11000_1:chr17_80056125_80056235_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 79978000 79978200 FOXK2 S chr17_80551061_80551189_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 79978000 79978200 LRRC45 S chr17_79980972_79981141_11101_1 1 . -1 -1 . -1 . . . . . . . chr17 79978000 79978200 MAFG S chr17_79882894_79883004_10001_1:chr17_79884332_79884679_11000_1 2 . -1 -1 . -1 . . . . . . . chr17 79978000 79978200 NOTUM S chr17_79918114_79918368_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 79978000 79978200 P4HB S chr17_79817390_79817557_10101_1 1 . -1 -1 . -1 . . . . . . . chr17 79978000 79978200 PCYT2 S chr17_79868156_79868624_11111_1:chr17_79869577_79869744_11101_1 2 . -1 -1 . -1 . . . . . . . chr17 79978000 79978200 SLC16A3 S chr17_80188813_80189061_10100_1:chr17_80189792_80189952_10000_3 2 . -1 -1 . -1 . . . . . . . chr17 79978000 79978200 SLC25A10 S chr17_79669427_79669888_10000_2:chr17_79678856_79679241_10101_2:chr17_79680731_79681001_10101_1 3 . -1 -1 . -1 . . . . . . . chr17 79978000 79978200 TBCD S chr17_80709708_80709988_10101_1 1 . -1 -1 . -1 . . . . . . . chr17 79978200 79981876 LRRC45 S chr17_79823716_79824051_10101_2:chr17_80197634_80198208_10000_1:chr17_80200855_80201285_10000_2:chr17_80526400_80526644_10000_3:chr17_80699424_80699646_10000_3 5 . -1 -1 . -1 . . . . . . . chr17 79994614 79995843 DCXR S chr17_79823716_79824051_10101_2:chr17_80197634_80198208_10000_1:chr17_80200855_80201285_10000_2:chr17_80304409_80304635_10000_1:chr17_80526400_80526644_10000_3:chr17_80699424_80699646_10000_3 6 chr17 79995506 79995507 CS119207 - 2 DM rs375243154 DCXR Pentosuria GCCGGGTGCTGGTCACCGGGGCAGGCAAAG[G/A]tgggcggcggggaaaggtgggcaaaggccg 22042873 chr17 80008673 80010538 GPS1 S chr17_80197634_80198208_10000_1:chr17_80200855_80201285_10000_2:chr17_80526400_80526644_10000_3 3 . -1 -1 . -1 . . . . . . . chr17 80014600 80015751 ARHGDIA S chr17_79829197_79829349_10100_1:chr17_79830151_79830226_10100_1 2 chr17 80014816 80014817 CM124597 + 1 DM? NULL GPS1 Autism TCCAGCGCCGCGCCAAGGCCATGATGCTGC[G/A]GGCAGCTGTGCTCCGCAACCAGATCCATGT 22495309 chr17 80014600 80015751 DCXR S chr17_79995244_79995843_11100_2 1 chr17 80014816 80014817 CM124597 + 1 DM? NULL GPS1 Autism TCCAGCGCCGCGCCAAGGCCATGATGCTGC[G/A]GGCAGCTGTGCTCCGCAACCAGATCCATGT 22495309 chr17 80014600 80015751 ENSG00000245410 S chr17_80199547_80199758_10000_1 1 chr17 80014816 80014817 CM124597 + 1 DM? NULL GPS1 Autism TCCAGCGCCGCGCCAAGGCCATGATGCTGC[G/A]GGCAGCTGTGCTCCGCAACCAGATCCATGT 22495309 chr17 80014600 80015751 FASN S chr17_80054025_80054083_11000_1:chr17_80056125_80056235_10000_1 2 chr17 80014816 80014817 CM124597 + 1 DM? NULL GPS1 Autism TCCAGCGCCGCGCCAAGGCCATGATGCTGC[G/A]GGCAGCTGTGCTCCGCAACCAGATCCATGT 22495309 chr17 80014600 80015751 NOTUM S chr17_79918114_79918368_11111_1 1 chr17 80014816 80014817 CM124597 + 1 DM? NULL GPS1 Autism TCCAGCGCCGCGCCAAGGCCATGATGCTGC[G/A]GGCAGCTGTGCTCCGCAACCAGATCCATGT 22495309 chr17 80014600 80015751 PCYT2 S chr17_79868156_79868624_11111_1:chr17_79869577_79869744_11101_1 2 chr17 80014816 80014817 CM124597 + 1 DM? NULL GPS1 Autism TCCAGCGCCGCGCCAAGGCCATGATGCTGC[G/A]GGCAGCTGTGCTCCGCAACCAGATCCATGT 22495309 chr17 80014600 80015751 SLC25A10 S chr17_79678856_79679241_10101_2:chr17_79680731_79681001_10101_1 2 chr17 80014816 80014817 CM124597 + 1 DM? NULL GPS1 Autism TCCAGCGCCGCGCCAAGGCCATGATGCTGC[G/A]GGCAGCTGTGCTCCGCAACCAGATCCATGT 22495309 chr17 80022646 80023968 DUS1L S chr17_80197634_80198208_10000_1:chr17_80526400_80526644_10000_3 2 . -1 -1 . -1 . . . . . . . chr17 80052713 80052821 FASN F chr17_80053950_80054083_11000_1:chr17_80056125_80056235_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 80054025 80057110 FASN S chr17_79823716_79824051_10101_2:chr17_80197634_80198208_10000_1:chr17_80200855_80201285_10000_2:chr17_80483233_80483746_10000_4:chr17_80526400_80526644_10000_3 5 . -1 -1 . -1 . . . . . . . chr17 80056613 80056910 FASN F chr17_80056125_80056235_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 80163869 80164360 DCXR S chr17_79995244_79995843_11100_2 1 . -1 -1 . -1 . . . . . . . chr17 80163869 80164360 LRRC45 S chr17_79980972_79981141_11101_1 1 . -1 -1 . -1 . . . . . . . chr17 80163869 80164360 MAFG S chr17_79884332_79884679_11000_1 1 . -1 -1 . -1 . . . . . . . chr17 80163869 80164360 NOTUM S chr17_79918114_79918368_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 80185781 80189201 SLC16A3 F chr17_80188813_80189061_10100_1 1 . -1 -1 . -1 . . . . . . . chr17 80186386 80189201 SLC16A3 F chr17_80188813_80189061_10100_1 1 . -1 -1 . -1 . . . . . . . chr17 80188750 80189250 SLC16A3 F chr17_80188813_80189061_10100_1:chr17_80188813_80189061_10100_1:chr17_80188813_80189061_10100_1:chr17_80188813_80189061_10100_1:chr17_80189792_80189952_10000_3:chr17_80189792_80189952_10000_3 6 . -1 -1 . -1 . . . . . . . chr17 80188800 80190608 SLC16A3 F chr17_80188813_80189061_10100_1 1 . -1 -1 . -1 . . . . . . . chr17 80188800 80193275 SLC16A3 F chr17_80188813_80189061_10100_1 1 . -1 -1 . -1 . . . . . . . chr17 80191050 80191306 SLC16A3 S chr17_80526400_80526644_10000_3 1 . -1 -1 . -1 . . . . . . . chr17 80191400 80191517 SLC16A3 S chr17_80526400_80526644_10000_3 1 . -1 -1 . -1 . . . . . . . chr17 80197400 80198400 ARHGDIA S chr17_79829197_79829349_10100_1:chr17_79830151_79830226_10100_1 2 . -1 -1 . -1 . . . . . . . chr17 80197400 80198400 CSNK1D S chr17_80230641_80230753_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 80197400 80198400 DCXR S chr17_79995244_79995843_11100_2 1 . -1 -1 . -1 . . . . . . . chr17 80197400 80198400 DUS1L S chr17_80023686_80023796_11110_1 1 . -1 -1 . -1 . . . . . . . chr17 80197400 80198400 ENSG00000245410 S chr17_80199547_80199758_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 80197400 80198400 FASN S chr17_80054025_80054083_11000_1:chr17_80056125_80056235_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 80197400 80198400 FOXK2 S chr17_80551061_80551189_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 80197400 80198400 LRRC45 S chr17_79980972_79981141_11101_1 1 . -1 -1 . -1 . . . . . . . chr17 80197400 80198400 MAFG S chr17_79884332_79884679_11000_1 1 . -1 -1 . -1 . . . . . . . chr17 80197400 80198400 NOTUM S chr17_79918114_79918368_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 80197400 80198400 P4HB S chr17_79817390_79817557_10101_1 1 . -1 -1 . -1 . . . . . . . chr17 80197400 80198400 PCYT2 S chr17_79868156_79868624_11111_1:chr17_79869577_79869744_11101_1 2 . -1 -1 . -1 . . . . . . . chr17 80197400 80198400 SLC25A10 S chr17_79669427_79669888_10000_2:chr17_79678856_79679241_10101_2:chr17_79680731_79681001_10101_1 3 . -1 -1 . -1 . . . . . . . chr17 80198400 80200600 ENSG00000245410 S chr17_79823716_79824051_10101_2:chr17_80197634_80198208_10000_1:chr17_80200855_80201285_10000_2:chr17_80483233_80483746_10000_4:chr17_80526400_80526644_10000_3 5 . -1 -1 . -1 . . . . . . . chr17 80200600 80201551 ARHGDIA S chr17_79829197_79829349_10100_1:chr17_79830151_79830226_10100_1 2 . -1 -1 . -1 . . . . . . . chr17 80200600 80201551 CSNK1D S chr17_80230641_80230753_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 80200600 80201551 DCXR S chr17_79995244_79995843_11100_2 1 . -1 -1 . -1 . . . . . . . chr17 80200600 80201551 ENSG00000245410 S chr17_80199547_80199758_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 80200600 80201551 FASN S chr17_80054025_80054083_11000_1:chr17_80056125_80056235_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 80200600 80201551 LRRC45 S chr17_79980972_79981141_11101_1 1 . -1 -1 . -1 . . . . . . . chr17 80200600 80201551 MAFG S chr17_79884332_79884679_11000_1 1 . -1 -1 . -1 . . . . . . . chr17 80200600 80201551 NOTUM S chr17_79918114_79918368_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 80200600 80201551 P4HB S chr17_79817390_79817557_10101_1 1 . -1 -1 . -1 . . . . . . . chr17 80200600 80201551 PCYT2 S chr17_79868156_79868624_11111_1:chr17_79869577_79869744_11101_1 2 . -1 -1 . -1 . . . . . . . chr17 80200600 80201551 SLC25A10 S chr17_79669427_79669888_10000_2:chr17_79678856_79679241_10101_2:chr17_79680731_79681001_10101_1 3 . -1 -1 . -1 . . . . . . . chr17 80201685 80201933 ARHGDIA S chr17_79829197_79829349_10100_1:chr17_79830151_79830226_10100_1 2 . -1 -1 . -1 . . . . . . . chr17 80201685 80201933 DCXR S chr17_79995244_79995843_11100_2 1 . -1 -1 . -1 . . . . . . . chr17 80201685 80201933 ENSG00000245410 S chr17_80199547_80199758_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 80201685 80201933 FASN S chr17_80054025_80054083_11000_1:chr17_80056125_80056235_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 80201685 80201933 LRRC45 S chr17_79980972_79981141_11101_1 1 . -1 -1 . -1 . . . . . . . chr17 80201685 80201933 PCYT2 S chr17_79868156_79868624_11111_1:chr17_79869577_79869744_11101_1 2 . -1 -1 . -1 . . . . . . . chr17 80201685 80201933 SLC25A10 S chr17_79678856_79679241_10101_2:chr17_79680731_79681001_10101_1 2 . -1 -1 . -1 . . . . . . . chr17 80229506 80229888 CSNK1D S chr17_80526400_80526644_10000_3 1 . -1 -1 . -1 . . . . . . . chr17 80229980 80230082 CSNK1D S chr17_80526400_80526644_10000_3 1 . -1 -1 . -1 . . . . . . . chr17 80230464 80231969 CSNK1D S chr17_80197634_80198208_10000_1:chr17_80200855_80201285_10000_2:chr17_80526400_80526644_10000_3 3 . -1 -1 . -1 . . . . . . . chr17 80290802 80291044 SECTM1 F chr17_80292417_80292421_10000_2 1 . -1 -1 . -1 . . . . . . . chr17 80291420 80293175 SECTM1 F chr17_80292442_80292784_10000_2:chr17_80293005_80293264_10000_3 2 . -1 -1 . -1 . . . . . . . chr17 80292742 80293207 SECTM1 F chr17_80292417_80292784_10000_2:chr17_80293005_80293175_10000_3 2 . -1 -1 . -1 . . . . . . . chr17 80304200 80305127 ARHGDIA S chr17_79829197_79829349_10100_1:chr17_79830151_79830226_10100_1 2 . -1 -1 . -1 . . . . . . . chr17 80304200 80305127 DCXR S chr17_79995244_79995843_11100_2 1 . -1 -1 . -1 . . . . . . . chr17 80375872 80376950 HEXDC S chr17_80526400_80526644_10000_3 1 . -1 -1 . -1 . . . . . . . chr17 80483200 80483800 ARHGDIA S chr17_79829197_79829349_10100_1:chr17_79830151_79830226_10100_1 2 . -1 -1 . -1 . . . . . . . chr17 80483200 80483800 ENSG00000245410 S chr17_80199547_80199758_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 80483200 80483800 FASN S chr17_80054025_80054083_11000_1:chr17_80056125_80056235_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 80483200 80483800 MAFG S chr17_79884332_79884679_11000_1 1 . -1 -1 . -1 . . . . . . . chr17 80483200 80483800 PCYT2 S chr17_79868156_79868624_11111_1:chr17_79869577_79869744_11101_1 2 . -1 -1 . -1 . . . . . . . chr17 80509637 80509782 ARHGDIA S chr17_79829197_79829349_10100_1:chr17_79830151_79830226_10100_1 2 . -1 -1 . -1 . . . . . . . chr17 80509637 80509782 DCXR S chr17_79995244_79995843_11100_2 1 . -1 -1 . -1 . . . . . . . chr17 80509637 80509782 LRRC45 S chr17_79980972_79981141_11101_1 1 . -1 -1 . -1 . . . . . . . chr17 80509637 80509782 MAFG S chr17_79884332_79884679_11000_1 1 . -1 -1 . -1 . . . . . . . chr17 80509637 80509782 NOTUM S chr17_79918114_79918368_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 80510038 80510130 LRRC45 S chr17_79980972_79981141_11101_1 1 . -1 -1 . -1 . . . . . . . chr17 80512207 80512401 7864 S chr17_80452370_80452710_11000_3 1 . -1 -1 . -1 . . . . . . . chr17 80512207 80512401 ARHGDIA S chr17_79829197_79829349_10100_1:chr17_79830151_79830226_10100_1 2 . -1 -1 . -1 . . . . . . . chr17 80512207 80512401 DCXR S chr17_79995244_79995843_11100_2 1 . -1 -1 . -1 . . . . . . . chr17 80512207 80512401 FASN S chr17_80054025_80054083_11000_1:chr17_80056125_80056235_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 80512207 80512401 LRRC45 S chr17_79980972_79981141_11101_1 1 . -1 -1 . -1 . . . . . . . chr17 80512207 80512401 MAFG S chr17_79884332_79884679_11000_1 1 . -1 -1 . -1 . . . . . . . chr17 80512207 80512401 NOTUM S chr17_79918114_79918368_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 80512207 80512401 PCYT2 S chr17_79868156_79868624_11111_1:chr17_79869577_79869744_11101_1 2 . -1 -1 . -1 . . . . . . . chr17 80526400 80527333 ARHGDIA S chr17_79829197_79829349_10100_1:chr17_79830151_79830226_10100_1 2 . -1 -1 . -1 . . . . . . . chr17 80526400 80527333 CSNK1D S chr17_80230641_80230753_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 80526400 80527333 DCXR S chr17_79995244_79995843_11100_2 1 . -1 -1 . -1 . . . . . . . chr17 80526400 80527333 DUS1L S chr17_80023686_80023796_11110_1 1 . -1 -1 . -1 . . . . . . . chr17 80526400 80527333 ENSG00000245410 S chr17_80199547_80199758_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 80526400 80527333 FASN S chr17_80054025_80054083_11000_1:chr17_80056125_80056235_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 80526400 80527333 LRRC45 S chr17_79980972_79981141_11101_1 1 . -1 -1 . -1 . . . . . . . chr17 80526400 80527333 MAFG S chr17_79884332_79884679_11000_1 1 . -1 -1 . -1 . . . . . . . chr17 80526400 80527333 NOTUM S chr17_79918114_79918368_11111_1 1 . -1 -1 . -1 . . . . . . . chr17 80526400 80527333 P4HB S chr17_79817390_79817557_10101_1 1 . -1 -1 . -1 . . . . . . . chr17 80526400 80527333 PCYT2 S chr17_79868156_79868624_11111_1:chr17_79869577_79869744_11101_1 2 . -1 -1 . -1 . . . . . . . chr17 80526400 80527333 SLC25A10 S chr17_79669427_79669888_10000_2:chr17_79678856_79679241_10101_2:chr17_79680731_79681001_10101_1 3 . -1 -1 . -1 . . . . . . . chr17 80550089 80550600 ARHGDIA S chr17_79829197_79829349_10100_1:chr17_79830151_79830226_10100_1 2 . -1 -1 . -1 . . . . . . . chr17 80550089 80550600 DCXR S chr17_79995244_79995843_11100_2 1 . -1 -1 . -1 . . . . . . . chr17 80550089 80550600 ENSG00000245410 S chr17_80199547_80199758_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 80550089 80550600 FASN S chr17_80054025_80054083_11000_1:chr17_80056125_80056235_10000_1 2 . -1 -1 . -1 . . . . . . . chr17 80550089 80550600 LRRC45 S chr17_79980972_79981141_11101_1 1 . -1 -1 . -1 . . . . . . . chr17 80550089 80550600 PCYT2 S chr17_79868156_79868624_11111_1:chr17_79869577_79869744_11101_1 2 . -1 -1 . -1 . . . . . . . chr17 80550089 80550600 SLC25A10 S chr17_79678856_79679241_10101_2:chr17_79680731_79681001_10101_1 2 . -1 -1 . -1 . . . . . . . chr17 80550600 80551245 FOXK2 S chr17_80197634_80198208_10000_1 1 . -1 -1 . -1 . . . . . . . chr17 80655375 80655626 RAB40B F chr17_80656866_80656975_10101_1 1 . -1 -1 . -1 . . . . . . . chr17 80699025 80699646 DCXR S chr17_79995244_79995843_11100_2 1 chr17 80699238 80699239 CM1310138 + 1 DM rs145500346 FN3K Diabetes mellitus: type 2 AGCCTCAGTATGTGGACAAGTTCGGCTTCC[A/G]CACGGTGACGTGCTGCGGCTTCATCCCGCA 24082139 chr17 80699025 80699646 LRRC45 S chr17_79980972_79981141_11101_1 1 chr17 80699238 80699239 CM1310138 + 1 DM rs145500346 FN3K Diabetes mellitus: type 2 AGCCTCAGTATGTGGACAAGTTCGGCTTCC[A/G]CACGGTGACGTGCTGCGGCTTCATCCCGCA 24082139 chr17 80699025 80699646 NOTUM S chr17_79918114_79918368_11111_1 1 chr17 80699238 80699239 CM1310138 + 1 DM rs145500346 FN3K Diabetes mellitus: type 2 AGCCTCAGTATGTGGACAAGTTCGGCTTCC[A/G]CACGGTGACGTGCTGCGGCTTCATCCCGCA 24082139 chr17 80712796 80713169 TBCD F chr17_80709708_80709988_10101_1 1 . -1 -1 . -1 . . . . . . . chr17 80794045 80794420 ZNF750 F chr17_80794892_80795287_11101_2:chr17_80796278_80796587_11101_2 2 . -1 -1 . -1 . . . . . . . chr17 80796209 80796714 ZNF750 F chr17_80796278_80796587_11101_2 1 . -1 -1 . -1 . . . . . . . chr17 80796261 80798431 ZNF750 F chr17_80796278_80796587_11101_2 1 chr17 80797852 80797853 CR1110629 - 3 DM? NULL ZNF750 Psoriasis: susceptibility to CGTGAGAACAGGTACTGCTTCCTGAGCACC[G/A]CCAGCCACCGGCACCAAGACCGGCCACATC 22185198 chr17 80796261 80798431 ZNF750 F chr17_80796278_80796587_11101_2 1 chr17 80797853 80797854 CR1110628 - 3 DM? NULL ZNF750 Psoriasis: susceptibility to GCGTGAGAACAGGTACTGCTTCCTGAGCAC[C/T]GCCAGCCACCGGCACCAAGACCGGCCACAT 22185198 chr17 80796261 80798431 ZNF750 F chr17_80796278_80796587_11101_2 1 chr17 80797881 80797882 CR1110627 - 3 DM? NULL ZNF750 Psoriasis: susceptibility to AACAGCAGGCTCCAGTTTCACCCAGCAAGC[G/A]TGAGAACAGGTACTGCTTCCTGAGCACCGC 22185198 chr17 80796261 80798431 ZNF750 F chr17_80796278_80796587_11101_2 1 chr17 80798078 80798079 CR1110626 - 3 DM? NULL ZNF750 Psoriasis: susceptibility to CACTCACAGACAGTTGAGTCTGGAGACAGC[G/A]CTGGGAGTCGGCGAGATAACTTGCTTGCTG 22185198 chr17 80796261 80798431 ZNF750 F chr17_80796278_80796587_11101_2 1 chr17 80798245 80798246 CR084642 - 3 DM? rs191852873 ZNF750 Psoriasis: susceptibility to GCCTCCTGCGTACACATGCTCAAGTTCTAA[A/C]GGAAAGTCTCACATGTCTTTATCATGACGC 18256691 chr17 80834025 80834744 DCXR S chr17_79995244_79995843_11100_2 1 . -1 -1 . -1 . . . . . . . chr17 80834025 80834744 LRRC45 S chr17_79980972_79981141_11101_1 1 . -1 -1 . -1 . . . . . . . chr17 80834025 80834744 MAFG S chr17_79884332_79884679_11000_1 1 . -1 -1 . -1 . . . . . . . chr17 80834025 80834744 NOTUM S chr17_79918114_79918368_11111_1 1 . -1 -1 . -1 . . . . . . . chr18 711356 711474 ENOSF1 F chr18_711783_712007_11010_3:chr18_711783_712007_11010_3:chr18_712695_712824_11010_1:chr18_712695_712824_11010_1 4 . -1 -1 . -1 . . . . . . . chr18 813044 813594 YES1 F chr18_811826_811954_10010_1 1 . -1 -1 . -1 . . . . . . . chr18 2658254 2658560 SMCHD1 F chr18_2655751_2655861_11111_1:chr18_2656604_2657004_10010_2 2 . -1 -1 . -1 . . . . . . . chr18 2984759 2984800 LPIN2 S chr18_2984882_2985289_11111_3 1 . -1 -1 . -1 . . . . . . . chr18 2984800 2985617 DLGAP1-AS1 S chr18_3594021_3594136_10000_1:chr18_3595626_3596090_11010_3 2 . -1 -1 . -1 . . . . . . . chr18 2984800 2985617 LPIN2 S chr18_3013465_3013628_11101_2 1 . -1 -1 . -1 . . . . . . . chr18 2984800 2985617 MYL12B S chr18_3264549_3264659_10001_1 1 . -1 -1 . -1 . . . . . . . chr18 3012496 3013648 LPIN2 S chr18_2984882_2985289_11111_3 1 . -1 -1 . -1 . . . . . . . chr18 3052000 3052769 DLGAP1-AS1 S chr18_3594021_3594136_10000_1:chr18_3595626_3596090_11010_3 2 . -1 -1 . -1 . . . . . . . chr18 3264473 3264673 MYL12B S chr18_2984882_2985289_11111_3 1 . -1 -1 . -1 . . . . . . . chr18 3446696 3446930 TGIF1 F chr18_3447906_3448494_11101_2:chr18_3447906_3448494_11101_2:chr18_3447906_3448494_11101_2:chr18_3449084_3449499_11101_3:chr18_3449084_3449499_11101_3:chr18_3449084_3449499_11101_3:chr18_3450224_3450340_11101_1:chr18_3450224_3450340_11101_1:chr18_3450224_3450340_11101_1 9 . -1 -1 . -1 . . . . . . . chr18 3454791 3454946 TGIF1 S chr18_2984882_2985289_11111_3:chr18_3052172_3052359_11000_4 2 . -1 -1 . -1 . . . . . . . chr18 3593684 3596218 DLGAP1-AS1 S chr18_2984882_2985289_11111_3:chr18_3052172_3052359_11000_4 2 . -1 -1 . -1 . . . . . . . chr18 5294371 5294839 ZFP161 F chr18_5294922_5295036_10100_1:chr18_5296060_5296177_10111_1 2 . -1 -1 . -1 . . . . . . . chr18 5294405 5296694 ZFP161 F chr18_5294922_5295036_10100_1 1 . -1 -1 . -1 . . . . . . . chr18 6416928 6417109 L3MBTL4 F chr18_6414972_6415399_11000_2 1 . -1 -1 . -1 . . . . . . . chr18 9138526 9138911 ANKRD12 F chr18_9136449_9136809_11110_1 1 . -1 -1 . -1 . . . . . . . chr18 9914998 9915501 VAPA F chr18_9913808_9914003_11111_1 1 . -1 -1 . -1 . . . . . . . chr18 11849903 11850727 CHMP1B F chr18_11850129_11850409_10000_2:chr18_11851296_11851456_11101_1 2 . -1 -1 . -1 . . . . . . . chr18 11850115 11851889 CHMP1B F chr18_11850129_11850409_10000_2 1 . -1 -1 . -1 . . . . . . . chr18 19746222 19746392 GATA6 F chr18_19749335_19749579_11010_2 1 . -1 -1 . -1 . . . . . . . chr18 21165246 21165762 NPC1 F chr18_21166740_21166914_11010_1 1 . -1 -1 . -1 . . . . . . . chr18 21975077 21975273 OSBPL1A F chr18_21977045_21977244_11100_1:chr18_21977834_21978210_11100_2 2 . -1 -1 . -1 . . . . . . . chr18 25754926 25755429 CDH2 F chr18_25757130_25757271_11111_1 1 . -1 -1 . -1 . . . . . . . chr18 29597944 29599881 RNF125 F chr18_29599361_29599641_11110_3 1 . -1 -1 . -1 . . . . . . . chr18 29599439 29599921 RNF125 F chr18_29598178_29598435_10100_1:chr18_29599361_29599641_11110_3 2 . -1 -1 . -1 . . . . . . . chr18 32557707 32559398 MAPRE2 F chr18_32559041_32559450_10000_3 1 . -1 -1 . -1 . . . . . . . chr18 32558962 32559433 MAPRE2 F chr18_32558245_32558438_10000_1:chr18_32559041_32559398_10000_3 2 . -1 -1 . -1 . . . . . . . chr18 32923925 32925671 ZNF24 F chr18_32925391_32925575_10000_2 1 . -1 -1 . -1 . . . . . . . chr18 32925283 32925658 ZNF24 F chr18_32924418_32924775_11010_2:chr18_32925391_32925575_10000_2 2 . -1 -1 . -1 . . . . . . . chr18 42262294 42262512 SETBP1 F chr18_42260378_42260657_11000_1:chr18_42260378_42260657_11000_1:chr18_42261013_42261463_11010_2:chr18_42261013_42261463_11010_2 4 . -1 -1 . -1 . . . . . . . chr18 43543003 43543287 EPG5 F chr18_43547247_43547541_11111_1 1 . -1 -1 . -1 . . . . . . . chr18 46064926 46067151 CTIF F chr18_46066985_46067205_11101_2 1 . -1 -1 . -1 . . . . . . . chr18 46066779 46067121 CTIF F chr18_46065291_46065820_11111_2:chr18_46066985_46067151_11101_2 2 . -1 -1 . -1 . . . . . . . chr18 46465508 46465942 SMAD7 F chr18_46468990_46469291_11110_3 1 . -1 -1 . -1 . . . . . . . chr18 46475202 46478919 SMAD7 F chr18_46478548_46478689_11101_2 1 . -1 -1 . -1 . . . . . . . chr18 46476580 46478919 SMAD7 F chr18_46478548_46478689_11101_2 1 . -1 -1 . -1 . . . . . . . chr18 46478230 46479206 SMAD7 F chr18_46478548_46478689_11101_2:chr18_46478548_46478689_11101_2 2 . -1 -1 . -1 . . . . . . . chr18 48721492 48722312 MEX3C F chr18_48724188_48724551_11100_2 1 . -1 -1 . -1 . . . . . . . chr18 48721702 48724551 MEX3C F chr18_48721418_48721668_10000_3 1 . -1 -1 . -1 . . . . . . . chr18 55101911 55103417 ONECUT2 F chr18_55102469_55102507_11100_1 1 . -1 -1 . -1 . . . . . . . chr18 55102016 55102207 ONECUT2 F chr18_55102469_55102642_11100_1 1 . -1 -1 . -1 . . . . . . . chr18 55105190 55105288 ONECUT2 F chr18_55102469_55102642_11100_1 1 . -1 -1 . -1 . . . . . . . chr18 55112542 55113780 NEDD4L S chr18_55710814_55710982_11000_1:chr18_55712221_55712335_10000_1 2 . -1 -1 . -1 . . . . . . . chr18 55250571 55250884 FECH F chr18_55253843_55254028_11101_1 1 . -1 -1 . -1 . . . . . . . chr18 55255652 55255824 FECH F chr18_55253843_55254028_11101_1 1 . -1 -1 . -1 . . . . . . . chr18 55710632 55714958 NEDD4L F chr18_55710760_55710982_11000_1 1 . -1 -1 . -1 . . . . . . . chr18 55710685 55710979 NEDD4L F chr18_55710760_55710982_11000_1:chr18_55712221_55712335_10000_1:chr18_55712638_55712746_10000_1:chr18_55713712_55713982_10000_1 4 . -1 -1 . -1 . . . . . . . chr18 55710814 55712626 NEDD4L S chr18_55112741_55112979_11111_3:chr18_55113161_55113551_11111_3:chr18_56066310_56066514_10000_2:chr18_56067292_56067437_11100_1:chr18_56074678_56075670_11111_4:chr18_56075970_56076286_11010_2 6 . -1 -1 . -1 . . . . . . . chr18 55714621 55714758 NEDD4L S chr18_55112741_55112979_11111_3:chr18_55113161_55113551_11111_3 2 . -1 -1 . -1 . . . . . . . chr18 55888253 55891501 NEDD4L F chr18_55890970_55891706_11111_3 1 . -1 -1 . -1 . . . . . . . chr18 55888618 55888935 NEDD4L S chr18_56081013_56081938_11111_4 1 . -1 -1 . -1 . . . . . . . chr18 55890970 55891630 NEDD4L F chr18_55890970_55891501_11111_3 1 . -1 -1 . -1 . . . . . . . chr18 56065775 56068173 NEDD4L S chr18_55710814_55710982_11000_1:chr18_55712221_55712335_10000_1 2 . -1 -1 . -1 . . . . . . . chr18 56074094 56078380 NEDD4L S chr18_55710814_55710982_11000_1:chr18_55712221_55712335_10000_1 2 . -1 -1 . -1 . . . . . . . chr18 56337265 56339118 MALT1 F chr18_56337072_56337228_11000_2 1 . -1 -1 . -1 . . . . . . . chr18 56533618 56533625 ZNF532 F chr18_56530823_56530955_10000_1 1 . -1 -1 . -1 . . . . . . . chr18 60119400 60120211 PHLPP1 S chr18_60382250_60382575_11111_2 1 . -1 -1 . -1 . . . . . . . chr18 60189166 60191158 ZCCHC2 F chr18_60189354_60189496_10100_1 1 . -1 -1 . -1 . . . . . . . chr18 60189219 60189514 ZCCHC2 F chr18_60189354_60189496_10100_1:chr18_60189960_60190339_11111_1 2 . -1 -1 . -1 . . . . . . . chr18 60190157 60193961 ZCCHC2 F chr18_60193322_60193513_11111_1:chr18_60194004_60194242_11111_1 2 . -1 -1 . -1 . . . . . . . chr18 60193382 60194139 ZCCHC2 F chr18_60190157_60190339_11111_1:chr18_60192816_60192921_11000_1:chr18_60193322_60193513_11111_1 3 . -1 -1 . -1 . . . . . . . chr18 60381951 60383071 PHLPP1 S chr18_60119488_60120058_11011_4 1 . -1 -1 . -1 . . . . . . . chr18 60984165 60984609 BCL2 F chr18_60986511_60986661_10101_1 1 . -1 -1 . -1 . . . . . . . chr18 72919533 72921781 ZADH2 F chr18_72919427_72919533_10111_1 1 . -1 -1 . -1 . . . . . . . chr18 72919537 72919929 ZADH2 F chr18_72921673_72921781_10111_1 1 . -1 -1 . -1 . . . . . . . chr18 72919988 72920296 TSHZ1 F chr18_72921673_72921813_10111_1:chr18_72922669_72922809_10101_1 2 . -1 -1 . -1 . . . . . . . chr18 72919988 72920296 ZADH2 F chr18_72921673_72921781_10111_1 1 . -1 -1 . -1 . . . . . . . chr18 74840794 74841428 MBP F chr18_74843447_74843559_10000_1:chr18_74844037_74844193_10000_1:chr18_74844749_74844883_10000_1 3 . -1 -1 . -1 . . . . . . . chr18 74841905 74842663 MBP F chr18_74843447_74843559_10000_1:chr18_74844037_74844193_10000_1:chr18_74844749_74844883_10000_1 3 . -1 -1 . -1 . . . . . . . chr18 76828001 76828378 ATP9B F chr18_76828982_76829371_11111_1 1 . -1 -1 . -1 . . . . . . . chr18 76831132 76831674 ATP9B F chr18_76828982_76829371_11111_1 1 . -1 -1 . -1 . . . . . . . chr18 77153646 77154504 NFATC1 F chr18_77154800_77155011_10000_1 1 . -1 -1 . -1 . . . . . . . chr18 77153875 77156272 NFATC1 F chr18_77154800_77154804_10000_1 1 . -1 -1 . -1 . . . . . . . chr18 77442917 77443176 CTDP1 F chr18_77439345_77439840_11111_2 1 . -1 -1 . -1 . . . . . . . chr18 77693724 77694734 RBFA S chr18_77793578_77793724_10000_1:chr18_77793919_77794806_11000_3 2 . -1 -1 . -1 . . . . . . . chr18 77693724 77694734 TXNL4A S chr18_77748574_77748692_11000_1 1 . -1 -1 . -1 . . . . . . . chr18 77724287 77725533 HSBP1L1 S chr18_77694676_77694734_11011_3 1 . -1 -1 . -1 . . . . . . . chr18 77748022 77749109 TXNL4A S chr18_77694676_77694734_11011_3 1 . -1 -1 . -1 . . . . . . . chr18 77793290 77794869 RBFA S chr18_77694676_77694734_11011_3 1 . -1 -1 . -1 . . . . . . . chr18 77866619 77867854 ADNP2 S chr18_77694676_77694734_11011_3:chr18_77694826_77695058_11011_3 2 . -1 -1 . -1 . . . . . . . chr19 459757 460455 SHC2 S chr19_934885_935198_10010_2 1 . -1 -1 . -1 . . . . . . . chr19 532415 533392 CDC34 S chr19_1415598_1415748_10000_1:chr19_934885_935198_10010_2 2 . -1 -1 . -1 . . . . . . . chr19 573434 573573 BSG F chr19_572358_572513_11101_1 1 . -1 -1 . -1 . . . . . . . chr19 660293 660821 RNF126 F chr19_660969_661601_00000_2:chr19_663205_663339_00000_1 2 . -1 -1 . -1 . . . . . . . chr19 660357 663733 RNF126 F chr19_660969_661121_00000_2 1 . -1 -1 . -1 . . . . . . . chr19 660655 663771 RNF126 S chr19_934885_935198_10010_2 1 . -1 -1 . -1 . . . . . . . chr19 661372 663733 RNF126 F chr19_661110_661601_00000_2 1 . -1 -1 . -1 . . . . . . . chr19 661410 661735 RNF126 F chr19_661372_661601_00000_2:chr19_663205_663339_00000_1 2 . -1 -1 . -1 . . . . . . . chr19 662216 662510 RNF126 F chr19_663205_663339_00000_1 1 . -1 -1 . -1 . . . . . . . chr19 796684 799588 PTBP1 S chr19_1415598_1415748_10000_1:chr19_934885_935198_10010_2 2 . -1 -1 . -1 . . . . . . . chr19 928103 928378 ARID3A F chr19_927039_927224_10010_1 1 . -1 -1 . -1 . . . . . . . chr19 934800 935400 CIRBP S chr19_1269086_1269800_10010_2 1 . -1 -1 . -1 . . . . . . . chr19 934800 935400 CNN2 S chr19_1021758_1021875_10101_1 1 . -1 -1 . -1 . . . . . . . chr19 934800 935400 ENSG00000226593 S chr19_1275388_1275498_10000_1:chr19_1275801_1276010_10000_1 2 . -1 -1 . -1 . . . . . . . chr19 934800 935400 MIDN S chr19_1248555_1249020_10111_1:chr19_1249262_1249522_10101_1 2 . -1 -1 . -1 . . . . . . . chr19 934800 935400 POLR2E S chr19_1095417_1095582_10100_2 1 . -1 -1 . -1 . . . . . . . chr19 934800 935400 PTBP1 S chr19_796926_797220_00000_1:chr19_797751_798087_00000_1 2 . -1 -1 . -1 . . . . . . . chr19 934800 935400 RNF126 S chr19_660969_661601_00000_2:chr19_663205_663339_00000_1 2 . -1 -1 . -1 . . . . . . . chr19 934800 935400 RPS15 S chr19_1438106_1438418_11000_1 1 . -1 -1 . -1 . . . . . . . chr19 934800 935400 SHC2 S chr19_459945_460124_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 1020845 1021875 CNN2 S chr19_1415598_1415748_10000_1:chr19_934885_935198_10010_2 2 . -1 -1 . -1 . . . . . . . chr19 1095020 1095618 POLR2E S chr19_1415598_1415748_10000_1:chr19_934885_935198_10010_2 2 . -1 -1 . -1 . . . . . . . chr19 1175432 1175562 SBNO2 F chr19_1174261_1174374_10101_1 1 . -1 -1 . -1 . . . . . . . chr19 1248123 1250157 MIDN S chr19_1415598_1415748_10000_1:chr19_1424395_1424592_10000_1:chr19_2242200_2242412_11000_1:chr19_934885_935198_10010_2 4 . -1 -1 . -1 . . . . . . . chr19 1265737 1269767 CIRBP F chr19_1265510_1265581_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 1265810 1266064 CIRBP F chr19_1269086_1269767_10010_2 1 . -1 -1 . -1 . . . . . . . chr19 1268994 1270369 CIRBP S chr19_1415598_1415748_10000_1:chr19_2242200_2242412_11000_1:chr19_934885_935198_10010_2 3 . -1 -1 . -1 . . . . . . . chr19 1270593 1270685 CIRBP S chr19_1415598_1415748_10000_1:chr19_2242200_2242412_11000_1:chr19_934885_935198_10010_2 3 . -1 -1 . -1 . . . . . . . chr19 1270937 1271179 CIRBP S chr19_1415598_1415748_10000_1:chr19_2242200_2242412_11000_1:chr19_934885_935198_10010_2 3 . -1 -1 . -1 . . . . . . . chr19 1274770 1274966 ENSG00000226593 S chr19_1415598_1415748_10000_1:chr19_2242200_2242412_11000_1 2 . -1 -1 . -1 . . . . . . . chr19 1275193 1276222 ENSG00000226593 S chr19_1415598_1415748_10000_1:chr19_1424395_1424592_10000_1:chr19_2242200_2242412_11000_1:chr19_934885_935198_10010_2 4 . -1 -1 . -1 . . . . . . . chr19 1284432 1284856 EFNA2 F chr19_1284677_1284992_10000_2 1 . -1 -1 . -1 . . . . . . . chr19 1284444 1286653 EFNA2 F chr19_1284677_1284992_10000_2 1 . -1 -1 . -1 . . . . . . . chr19 1415001 1415800 CIRBP S chr19_1269086_1269800_10010_2 1 . -1 -1 . -1 . . . . . . . chr19 1415001 1415800 CNN2 S chr19_1021758_1021875_10101_1 1 . -1 -1 . -1 . . . . . . . chr19 1415001 1415800 ENSG00000226593 S chr19_1275388_1275498_10000_1:chr19_1275801_1276010_10000_1 2 . -1 -1 . -1 . . . . . . . chr19 1415001 1415800 MIDN S chr19_1248555_1249020_10111_1:chr19_1249262_1249522_10101_1 2 . -1 -1 . -1 . . . . . . . chr19 1415001 1415800 OAZ1 S chr19_2269564_2269685_10110_1 1 . -1 -1 . -1 . . . . . . . chr19 1415001 1415800 PLEKHJ1 S chr19_2236262_2236427_11101_1:chr19_2236627_2237010_11101_2 2 . -1 -1 . -1 . . . . . . . chr19 1415001 1415800 POLR2E S chr19_1095417_1095582_10100_2 1 . -1 -1 . -1 . . . . . . . chr19 1415001 1415800 PTBP1 S chr19_796926_797220_00000_1:chr19_797751_798087_00000_1 2 . -1 -1 . -1 . . . . . . . chr19 1415001 1415800 RPS15 S chr19_1438106_1438418_11000_1 1 . -1 -1 . -1 . . . . . . . chr19 1424000 1424303 ENSG00000226593 S chr19_1275388_1275498_10000_1:chr19_1275801_1276010_10000_1 2 . -1 -1 . -1 . . . . . . . chr19 1424000 1424303 PLEKHJ1 S chr19_2236262_2236427_11101_1:chr19_2236627_2237010_11101_2 2 . -1 -1 . -1 . . . . . . . chr19 1424000 1424303 RPS15 S chr19_1438106_1438418_11000_1 1 . -1 -1 . -1 . . . . . . . chr19 1424395 1424932 ENSG00000226593 S chr19_1275388_1275498_10000_1:chr19_1275801_1276010_10000_1 2 . -1 -1 . -1 . . . . . . . chr19 1424395 1424932 MIDN S chr19_1248555_1249020_10111_1:chr19_1249262_1249522_10101_1 2 . -1 -1 . -1 . . . . . . . chr19 1424395 1424932 PLEKHJ1 S chr19_2236262_2236427_11101_1:chr19_2236627_2237010_11101_2 2 . -1 -1 . -1 . . . . . . . chr19 1424395 1424932 RPS15 S chr19_1438106_1438418_11000_1 1 . -1 -1 . -1 . . . . . . . chr19 1437975 1438978 RPS15 S chr19_1415598_1415748_10000_1:chr19_1424395_1424592_10000_1:chr19_2242200_2242412_11000_1:chr19_934885_935198_10010_2 4 . -1 -1 . -1 . . . . . . . chr19 1469595 1471591 PLEKHJ1 S chr19_2236262_2236427_11101_1:chr19_2236627_2237010_11101_2 2 . -1 -1 . -1 . . . . . . . chr19 1847538 1848995 REXO1 S chr19_1415598_1415748_10000_1:chr19_2576076_2576507_11010_4:chr19_2576981_2577289_11000_3:chr19_934885_935198_10010_2 4 . -1 -1 . -1 . . . . . . . chr19 1907577 1908050 ADAT3 S chr19_934885_935198_10010_2 1 . -1 -1 . -1 . . . . . . . chr19 1942393 1942508 CSNK1G2 F chr19_1940762_1940928_10101_1 1 . -1 -1 . -1 . . . . . . . chr19 1942586 1943099 CSNK1G2 F chr19_1940762_1940928_10101_1 1 . -1 -1 . -1 . . . . . . . chr19 1943207 1943298 CSNK1G2 F chr19_1940762_1940928_10101_1 1 . -1 -1 . -1 . . . . . . . chr19 2049892 2051743 MKNK2 F chr19_2049741_2050185_10111_3 1 . -1 -1 . -1 . . . . . . . chr19 2049976 2050209 MKNK2 F chr19_2049892_2050185_10111_3 1 . -1 -1 . -1 . . . . . . . chr19 2162744 2162943 DOT1L F chr19_2163678_2163807_10101_1 1 . -1 -1 . -1 . . . . . . . chr19 2163647 2167752 DOT1L F chr19_2167342_2167572_10101_2 1 . -1 -1 . -1 . . . . . . . chr19 2165096 2165788 DOT1L F chr19_2163678_2163807_10101_1 1 . -1 -1 . -1 . . . . . . . chr19 2167436 2167667 DOT1L F chr19_2163678_2163807_10101_1:chr19_2166897_2167127_10000_2:chr19_2167342_2167572_10101_2 3 . -1 -1 . -1 . . . . . . . chr19 2236084 2237302 PLEKHJ1 S chr19_1415598_1415748_10000_1:chr19_1424395_1424592_10000_1:chr19_2242200_2242412_11000_1:chr19_2576076_2576507_11010_4:chr19_2576981_2577289_11000_3 5 . -1 -1 . -1 . . . . . . . chr19 2242200 2242600 CIRBP S chr19_1269086_1269800_10010_2 1 . -1 -1 . -1 . . . . . . . chr19 2242200 2242600 ENSG00000226593 S chr19_1275388_1275498_10000_1:chr19_1275801_1276010_10000_1 2 . -1 -1 . -1 . . . . . . . chr19 2242200 2242600 GADD45B S chr19_2475878_2476473_11110_2 1 . -1 -1 . -1 . . . . . . . chr19 2242200 2242600 MIDN S chr19_1248555_1249020_10111_1:chr19_1249262_1249522_10101_1 2 . -1 -1 . -1 . . . . . . . chr19 2242200 2242600 PLEKHJ1 S chr19_2236262_2236427_11101_1:chr19_2236627_2237010_11101_2 2 . -1 -1 . -1 . . . . . . . chr19 2242200 2242600 RPS15 S chr19_1438106_1438418_11000_1 1 . -1 -1 . -1 . . . . . . . chr19 2242200 2242600 TIMM13 S chr19_2427569_2428110_10101_3 1 . -1 -1 . -1 . . . . . . . chr19 2269047 2270063 OAZ1 S chr19_1415598_1415748_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 2332363 2332647 SPPL2B F chr19_2328498_2328744_10010_1:chr19_2330708_2331023_10010_2 2 . -1 -1 . -1 . . . . . . . chr19 2426633 2428400 TIMM13 S chr19_2242200_2242412_11000_1:chr19_2576076_2576507_11010_4:chr19_2576981_2577289_11000_3 3 . -1 -1 . -1 . . . . . . . chr19 2475622 2479319 GADD45B F chr19_2478621_2479263_11010_3 1 chr19 2477277 2477278 CR087500 + 3 DFP rs2024144 GADD45B Inter-ventricular septum hypertrophy: assoc ACGGTGAGTCGGGCCTCTGCCCTGCCCCGC[C/T]ACGCCCGGGCACCTGGGCCGGTGTTTGTCA 18515079 chr19 2475622 2479319 GADD45B F chr19_2478621_2479263_11010_3 1 chr19 2477316 2477317 CR087503 + 3 DFP rs3783501 GADD45B Inter-ventricular septum hypertrophy: assoc GCACCTGGGCCGGTGTTTGTCAACAAAGTC[A/G]GGCTGACTGGTCCTGCACAGCTCAGCGCTC 18515079 chr19 2475733 2476875 GADD45B S chr19_2242200_2242412_11000_1:chr19_2576076_2576507_11010_4:chr19_2576981_2577289_11000_3 3 . -1 -1 . -1 . . . . . . . chr19 2478921 2479315 GADD45B F chr19_2475878_2476473_11110_2:chr19_2478442_2479263_11010_3 2 . -1 -1 . -1 . . . . . . . chr19 2575842 2577626 GADD45B S chr19_2475878_2476473_11110_2 1 . -1 -1 . -1 . . . . . . . chr19 2575842 2577626 PLEKHJ1 S chr19_2236262_2236427_11101_1:chr19_2236627_2237010_11101_2 2 . -1 -1 . -1 . . . . . . . chr19 2575842 2577626 TIMM13 S chr19_2427569_2428110_10101_3 1 . -1 -1 . -1 . . . . . . . chr19 2951305 2951400 PLEKHJ1 S chr19_2236262_2236427_11101_1:chr19_2236627_2237010_11101_2 2 . -1 -1 . -1 . . . . . . . chr19 3359060 3360470 NFIC F chr19_3360647_3360656_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 3366064 3367712 NFIC F chr19_3367479_3367708_10010_2 1 . -1 -1 . -1 . . . . . . . chr19 3367171 3367852 NFIC F chr19_3366156_3366304_10000_1:chr19_3367479_3367708_10010_2 2 . -1 -1 . -1 . . . . . . . chr19 3503082 3503292 DOHH F chr19_3500884_3501082_10101_1:chr19_3500884_3501082_10101_1 2 . -1 -1 . -1 . . . . . . . chr19 3503082 3503292 FZR1 F chr19_3505505_3505637_10000_1:chr19_3505973_3506254_10101_2 2 . -1 -1 . -1 . . . . . . . chr19 3603116 3603307 TBXA2R F chr19_3606326_3606503_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 3968463 3969200 EEF2 S chr19_3984092_3984299_11101_2:chr19_3984863_3985107_11101_1 2 . -1 -1 . -1 . . . . . . . chr19 3968463 3969200 FEM1A S chr19_4791439_4791492_11101_2 1 . -1 -1 . -1 . . . . . . . chr19 3983280 3983554 EEF2 S chr19_3968666_3968883_11000_1 1 . -1 -1 . -1 . . . . . . . chr19 3984092 3984449 EEF2 S chr19_3968666_3968883_11000_1 1 . -1 -1 . -1 . . . . . . . chr19 3984681 3985654 EEF2 S chr19_3968666_3968883_11000_1 1 . -1 -1 . -1 . . . . . . . chr19 4636294 4636441 TNFAIP8L1 F chr19_4639345_4639467_10100_1:chr19_4639345_4639467_10100_1:chr19_4639653_4640027_10110_1:chr19_4639653_4640061_10110_1 4 . -1 -1 . -1 . . . . . . . chr19 4791439 4792594 FEM1A S chr19_3968666_3968883_11000_1 1 . -1 -1 . -1 . . . . . . . chr19 5622437 5624353 SAFB2 F chr19_5624261_5624430_11000_1 1 . -1 -1 . -1 . . . . . . . chr19 5622545 5624353 SAFB F chr19_5624261_5624430_11000_1 1 . -1 -1 . -1 . . . . . . . chr19 5624052 5624252 SAFB2 F chr19_5622519_5623443_11110_3:chr19_5624261_5624353_11000_1 2 . -1 -1 . -1 . . . . . . . chr19 5624052 5624252 SAFB F chr19_5622545_5623443_11110_3:chr19_5624261_5624353_11000_1 2 . -1 -1 . -1 . . . . . . . chr19 6668609 6668941 TNFSF14 F chr19_6670000_6670505_10000_2:chr19_6670911_6671099_10000_1 2 . -1 -1 . -1 . . . . . . . chr19 7586995 7588746 MCOLN1 F chr19_7588036_7588078_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 7588336 7588755 MCOLN1 F chr19_7587220_7587549_10000_3:chr19_7587886_7588078_10000_1 2 . -1 -1 . -1 . . . . . . . chr19 7739205 7742443 C19orf59 F chr19_7739418_7739607_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 7739294 7739517 C19orf59 F chr19_7739418_7739607_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 8304939 8306116 ENSG00000167774 S chr19_8386217_8386352_11000_1 1 . -1 -1 . -1 . . . . . . . chr19 8385489 8387153 ENSG00000167774 S chr19_8305300_8305489_10010_3 1 . -1 -1 . -1 . . . . . . . chr19 8426833 8429511 ANGPTL4 F chr19_8426731_8427144_11111_3:chr19_8427429_8427517_10000_1 2 chr19 8429285 8429286 CM096421 + 1 DM? NULL ANGPTL4 Lower plasma triglyceride level CCGCCGTGCTACTGAGCGCTCAGGGCGGAC[C/G]CGTGCAGTCCAAGTCGCCGCGCTTTGCGTC 19602640 chr19 8426833 8429511 ANGPTL4 F chr19_8426731_8427144_11111_3:chr19_8427429_8427517_10000_1 2 chr19 8429323 8429324 CM071551 + 1 DFP rs116843064 ANGPTL4 Lower plasma triglyceride level: association with TCCAAGTCGCCGCGCTTTGCGTCCTGGGAC[G/A]AGATGAATGTCCTGGCGCACGGACTCCTGC 17322881 chr19 8426833 8429511 ANGPTL4 F chr19_8426731_8427144_11111_3:chr19_8427429_8427517_10000_1 2 chr19 8429434 8429435 CM090117 + 1 DM NULL ANGPTL4 Lower plasma triglyceride level AGCGCGCTGGAGCGGCGCCTGAGCGCGTGC[G/A]GGTCCGCCTGTCAGGGAACCGAGGGGTCCA 19075393 chr19 8426850 8427217 ANGPTL4 F chr19_8426833_8427144_11111_3:chr19_8427429_8427609_10000_1:chr19_8428978_8429094_10101_1 3 . -1 -1 . -1 . . . . . . . chr19 10678483 10678588 KRI1 F chr19_10676699_10676856_10100_2 1 . -1 -1 . -1 . . . . . . . chr19 10829647 10829946 DNM2 F chr19_10828228_10828793_10000_3 1 . -1 -1 . -1 . . . . . . . chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11199957 11199958 CR034701 + 3 FP rs17249134 LDLR Altered transcription AATACAACAAATCAAGTCGCCTGCCCTGGC[G/T]ACACTTTCGAAGGACTGGAGTGGGAATCAG 12944120 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11199958 11199959 CR108072 + 3 DM NULL LDLR Hypercholesterolaemia ATACAACAAATCAAGTCGCCTGCCCTGGCG[A/G]CACTTTCGAAGGACTGGAGTGGGAATCAGA 20809525 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11199998 11199999 CR1312418 + 3 DM? NULL LDLR Hypercholesterolaemia AGGACTGGAGTGGGAATCAGAGCTTCACGG[G/T]TTAAAAAGCCGATGTCACATCGGCCGTTCG 23680767 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200008 11200009 CR994775 + 3 FP rs17249141 LDLR Altered transcription TGGGAATCAGAGCTTCACGGGTTAAAAAGC[C/T]GATGTCACATCGGCCGTTCGAAACTCCTCC 10484771 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200010 11200011 CR127546 + 3 DM? NULL LDLR Hypercholesterolaemia GGAATCAGAGCTTCACGGGTTAAAAAGCCG[A/G]TGTCACATCGGCCGTTCGAAACTCCTCCTC 22881376 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200019 11200020 CR025999 + 3 DM NULL LDLR Hypercholesterolaemia GCTTCACGGGTTAAAAAGCCGATGTCACAT[C/T]GGCCGTTCGAAACTCCTCCTCTTGCAGTGA 12052488 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200037 11200038 CR055624 + 3 DM NULL LDLR Hypercholesterolaemia CCGATGTCACATCGGCCGTTCGAAACTCCT[C/T]CTCTTGCAGTGAGGTGAAGACATTTGAAAA 16250003 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200064 11200065 CR045713 + 3 DM NULL LDLR Hypercholesterolaemia CCTCCTCTTGCAGTGAGGTGAAGACATTTG[A/C]AAATCACCCCACTGCAAACTCCTCCCCCTG 15556094 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200069 11200070 CR045714 + 3 DM NULL LDLR Hypercholesterolaemia TCTTGCAGTGAGGTGAAGACATTTGAAAAT[C/T]ACCCCACTGCAAACTCCTCCCCCTGCTAGA 14974088 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200072 11200073 CR042574 + 3 DM NULL LDLR Hypercholesterolaemia TGCAGTGAGGTGAAGACATTTGAAAATCAC[C/T]CCACTGCAAACTCCTCCCCCTGCTAGAAAC 15303010 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200073 11200074 CR992256 + 3 DM NULL LDLR Hypercholesterolaemia GCAGTGAGGTGAAGACATTTGAAAATCACC[C/T]CACTGCAAACTCCTCCCCCTGCTAGAAACC 10484771 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200076 11200077 CR127029 + 3 DM NULL LDLR Hypercholesterolaemia GTGAGGTGAAGACATTTGAAAATCACCCCA[C/A]TGCAAACTCCTCCCCCTGCTAGAAACCTCA 22698793 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200079 11200080 CR973644 + 3 DM NULL LDLR Hypercholesterolaemia AGGTGAAGACATTTGAAAATCACCCCACTG[C/A]AAACTCCTCCCCCTGCTAGAAACCTCACAT 9259195 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200083 11200084 CR021774 + 3 DM NULL LDLR Hypercholesterolaemia GAAGACATTTGAAAATCACCCCACTGCAAA[C/T]TCCTCCCCCTGCTAGAAACCTCACATTGAA 11792717 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200085 11200086 CR094983 + 3 DM NULL LDLR Hypercholesterolaemia AGACATTTGAAAATCACCCCACTGCAAACT[C/G]CTCCCCCTGCTAGAAACCTCACATTGAAAT 19318025 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200085 11200086 CR108071 + 3 DM NULL LDLR Hypercholesterolaemia AGACATTTGAAAATCACCCCACTGCAAACT[C/T]CTCCCCCTGCTAGAAACCTCACATTGAAAT 20809525 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200086 11200087 CR055626 + 3 DM NULL LDLR Hypercholesterolaemia GACATTTGAAAATCACCCCACTGCAAACTC[C/A]TCCCCCTGCTAGAAACCTCACATTGAAATG 16250003 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200086 11200087 CR075255 + 3 DM NULL LDLR Hypercholesterolaemia GACATTTGAAAATCACCCCACTGCAAACTC[C/G]TCCCCCTGCTAGAAACCTCACATTGAAATG 17625505 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200087 11200088 CR951555 + 3 DM NULL LDLR Hypercholesterolaemia ACATTTGAAAATCACCCCACTGCAAACTCC[T/C]CCCCCTGCTAGAAACCTCACATTGAAATGC 8589690 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200088 11200089 CR920795 + 3 DM NULL LDLR Hypercholesterolaemia CATTTGAAAATCACCCCACTGCAAACTCCT[C/T]CCCCTGCTAGAAACCTCACATTGAAATGCT 1301956 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200089 11200090 CR116859 + 3 DM NULL LDLR Hypercholesterolaemia ATTTGAAAATCACCCCACTGCAAACTCCTC[C/G]CCCTGCTAGAAACCTCACATTGAAATGCTG 21538688 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200089 11200090 CR941557 + 3 DM NULL LDLR Hypercholesterolaemia ATTTGAAAATCACCCCACTGCAAACTCCTC[C/T]CCCTGCTAGAAACCTCACATTGAAATGCTG 7937987 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200090 11200091 CR920794 + 3 DM NULL LDLR Hypercholesterolaemia TTTGAAAATCACCCCACTGCAAACTCCTCC[C/G]CCTGCTAGAAACCTCACATTGAAATGCTGT 1301956 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200091 11200092 CR091488 + 3 DM NULL LDLR Hypercholesterolaemia TTGAAAATCACCCCACTGCAAACTCCTCCC[C/T]CTGCTAGAAACCTCACATTGAAATGCTGTA 18718593 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200104 11200105 CR0910348 + 3 DM? NULL LDLR Hypercholesterolaemia CACTGCAAACTCCTCCCCCTGCTAGAAACC[T/C]CACATTGAAATGCTGTAAATGACGTGGGCC 20236128 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200105 11200106 CR042573 + 3 DM NULL LDLR Hypercholesterolaemia ACTGCAAACTCCTCCCCCTGCTAGAAACCT[C/T]ACATTGAAATGCTGTAAATGACGTGGGCCC 15303010 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200202 11200203 CR042572 + 3 DM NULL LDLR Hypercholesterolaemia GACACAGCAGGTCGTGATCCGGGTCGGGAC[A/C]CTGCCTGGCAGAGGCTGCGAGCATGGGGCC 15241806 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200211 11200212 CR971948 + 3 DM NULL LDLR Hypercholesterolaemia GGTCGTGATCCGGGTCGGGACACTGCCTGG[C/A]AGAGGCTGCGAGCATGGGGCCCTGGGGCTG 9259195 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200212 11200213 CR106756 + 3 DM rs376011618 LDLR Hypercholesterolaemia GTCGTGATCCGGGTCGGGACACTGCCTGGC[A/G]GAGGCTGCGAGCATGGGGCCCTGGGGCTGG 20828696 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200220 11200221 CR055625 + 3 DM NULL LDLR Hypercholesterolaemia CCGGGTCGGGACACTGCCTGGCAGAGGCTG[C/T]GAGCATGGGGCCCTGGGGCTGGAAATTGCG 16250003 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200225 11200226 CM960929 + 1 DM NULL LDLR Hypercholesterolaemia tcgggacactgcctggcagaggctgcgagc[A/T]TGGGGCCCTGGGGCTGGAAATTGCGCTGGA 8831933 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200225 11200226 CM970875 + 1 DM NULL LDLR Hypercholesterolaemia tcgggacactgcctggcagaggctgcgagc[A/G]TGGGGCCCTGGGGCTGGAAATTGCGCTGGA 9237510 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200225 11200226 CM973628 + 1 DM NULL LDLR Hypercholesterolaemia tcgggacactgcctggcagaggctgcgagc[A/C]TGGGGCCCTGGGGCTGGAAATTGCGCTGGA 11600564 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200228 11200229 CM020733 + 1 DM rs5931 LDLR Hypercholesterolaemia ggacactgcctggcagaggctgcgagcATG[G/C]GGCCCTGGGGCTGGAAATTGCGCTGGACCG 11933210 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200228 11200229 CM057550 + 1 DM NULL LDLR Hypercholesterolaemia ggacactgcctggcagaggctgcgagcATG[G/A]GGCCCTGGGGCTGGAAATTGCGCTGGACCG 16250003 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200230 11200231 CD973295 + 5 DM NULL LDLR Hypercholesterolaemia ACACTGCCTGGCAGAGGCTGCGAGCATGGG[G/-]CCCTGGGGCTGGAAATTGCGCTGGACCGTC 9259195 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200233 11200234 CD920879 + 5 DM NULL LDLR Hypercholesterolaemia CTGCCTGGCAGAGGCTGCGAGCATGGGGCC[C/-]TGGGGCTGGAAATTGCGCTGGACCGTCGCC 1301956 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200235 11200236 CM014583 + 1 DM rs201016593 LDLR Hypercholesterolaemia gcctggcagaggctgcgagcATGGGGCCCT[G/A]GGGCTGGAAATTGCGCTGGACCGTCGCCTT 1301956 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200236 11200237 CM941040 + 1 DM NULL LDLR Hypercholesterolaemia cctggcagaggctgcgagcATGGGGCCCTG[G/A]GGCTGGAAATTGCGCTGGACCGTCGCCTTG 7903864 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200244 11200245 CD091489 + 5 DM NULL LDLR Hypercholesterolaemia AGGCTGCGAGCATGGGGCCCTGGGGCTGGA[AA/-]TTGCGCTGGACCGTCGCCTTGCTCCTCGCC 18718593 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200252 11200253 CM981177 + 1 DM NULL LDLR Hypercholesterolaemia agcATGGGGCCCTGGGGCTGGAAATTGCGC[T/A]GGACCGTCGCCTTGCTCCTCGCCGCGGCGG 9660059 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200252 11200262 CD095458 + 5 DM NULL LDLR Hypercholesterolaemia AGCATGGGGCCCTGGGGCTGGAAATTGCGC[TGGACCGTCGC/-]CTTGCTCCTCGCCGCGGCGGGGACTGCAGG 19446849 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200253 11200254 CM091466 + 1 DM NULL LDLR Hypercholesterolaemia gcATGGGGCCCTGGGGCTGGAAATTGCGCT[G/A]GACCGTCGCCTTGCTCCTCGCCGCGGCGGG 18718593 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200260 11200261 CI094998 + 6 DM NULL LDLR Hypercholesterolaemia CCCTGGGGCTGGAAATTGCGCTGGACCGTC[-/CGTC]GCCTTGCTCCTCGCCGCGGCGGGGACTGCA 19318025 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200265 11200266 CD127555 + 5 DM NULL LDLR Hypercholesterolaemia GGGGCTGGAAATTGCGCTGGACCGTCGCCT[T/-]GCTCCTCGCCGCGGCGGGGACTGCAGGTAA 22881376 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200265 11200266 CI056225 + 6 DM NULL LDLR Hypercholesterolaemia GGGCTGGAAATTGCGCTGGACCGTCGCCTT[-/T]GCTCCTCGCCGCGGCGGGGACTGCAGGTAA 15823276 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200268 11200269 CM023638 + 1 DM NULL LDLR Hypercholesterolaemia GCTGGAAATTGCGCTGGACCGTCGCCTTGC[T/C]CCTCGCCGCGGCGGGGACTGCAGgtaaggc 12052488 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200271 11200272 CM094954 + 1 DM NULL LDLR Hypercholesterolaemia GGAAATTGCGCTGGACCGTCGCCTTGCTCC[T/C]CGCCGCGGCGGGGACTGCAGgtaaggcttg 19318025 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200280 11200281 CM001210 + 1 DM NULL LDLR Hypercholesterolaemia GCTGGACCGTCGCCTTGCTCCTCGCCGCGG[C/A]GGGGACTGCAGgtaaggcttgctccaggcg 10782930 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200282 11200283 CM022807 + 1 DM rs147509697 LDLR Hypercholesterolaemia TGGACCGTCGCCTTGCTCCTCGCCGCGGCG[G/A]GGACTGCAGgtaaggcttgctccaggcgcc 12436241 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200288 11200289 CD122024 + 5 DM NULL LDLR Hypercholesterolaemia GTCGCCTTGCTCCTCGCCGCGGCGGGGACT[G/-]CAGGTAAGGCTTGCTCCAGGCGCCAGAATA 22353362 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200292 11200293 CS984591 + 2 DM NULL LDLR Hypercholesterolaemia CCTTGCTCCTCGCCGCGGCGGGGACTGCAG[G/A]taaggcttgctccaggcgccagaataggtt LSDB chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200293 11200294 CS022873 + 2 DM NULL LDLR Hypercholesterolaemia CTTGCTCCTCGCCGCGGCGGGGACTGCAGg[T/A]aaggcttgctccaggcgccagaataggttg 12436241 chr19 11199537 11202725 LDLR F chr19_11202981_11203137_10000_4 1 chr19 11200309 11200310 CS108890 + 2 DM rs17242759 LDLR Hypercholesterolaemia GCGGGGACTGCAGgtaaggcttgctccagg[C/A]gccagaataggttgagagggagcccccggg 19717150 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11199957 11199958 CR034701 + 3 FP rs17249134 LDLR Altered transcription AATACAACAAATCAAGTCGCCTGCCCTGGC[G/T]ACACTTTCGAAGGACTGGAGTGGGAATCAG 12944120 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11199958 11199959 CR108072 + 3 DM NULL LDLR Hypercholesterolaemia ATACAACAAATCAAGTCGCCTGCCCTGGCG[A/G]CACTTTCGAAGGACTGGAGTGGGAATCAGA 20809525 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11199998 11199999 CR1312418 + 3 DM? NULL LDLR Hypercholesterolaemia AGGACTGGAGTGGGAATCAGAGCTTCACGG[G/T]TTAAAAAGCCGATGTCACATCGGCCGTTCG 23680767 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200008 11200009 CR994775 + 3 FP rs17249141 LDLR Altered transcription TGGGAATCAGAGCTTCACGGGTTAAAAAGC[C/T]GATGTCACATCGGCCGTTCGAAACTCCTCC 10484771 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200010 11200011 CR127546 + 3 DM? NULL LDLR Hypercholesterolaemia GGAATCAGAGCTTCACGGGTTAAAAAGCCG[A/G]TGTCACATCGGCCGTTCGAAACTCCTCCTC 22881376 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200019 11200020 CR025999 + 3 DM NULL LDLR Hypercholesterolaemia GCTTCACGGGTTAAAAAGCCGATGTCACAT[C/T]GGCCGTTCGAAACTCCTCCTCTTGCAGTGA 12052488 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200037 11200038 CR055624 + 3 DM NULL LDLR Hypercholesterolaemia CCGATGTCACATCGGCCGTTCGAAACTCCT[C/T]CTCTTGCAGTGAGGTGAAGACATTTGAAAA 16250003 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200064 11200065 CR045713 + 3 DM NULL LDLR Hypercholesterolaemia CCTCCTCTTGCAGTGAGGTGAAGACATTTG[A/C]AAATCACCCCACTGCAAACTCCTCCCCCTG 15556094 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200069 11200070 CR045714 + 3 DM NULL LDLR Hypercholesterolaemia TCTTGCAGTGAGGTGAAGACATTTGAAAAT[C/T]ACCCCACTGCAAACTCCTCCCCCTGCTAGA 14974088 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200072 11200073 CR042574 + 3 DM NULL LDLR Hypercholesterolaemia TGCAGTGAGGTGAAGACATTTGAAAATCAC[C/T]CCACTGCAAACTCCTCCCCCTGCTAGAAAC 15303010 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200073 11200074 CR992256 + 3 DM NULL LDLR Hypercholesterolaemia GCAGTGAGGTGAAGACATTTGAAAATCACC[C/T]CACTGCAAACTCCTCCCCCTGCTAGAAACC 10484771 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200076 11200077 CR127029 + 3 DM NULL LDLR Hypercholesterolaemia GTGAGGTGAAGACATTTGAAAATCACCCCA[C/A]TGCAAACTCCTCCCCCTGCTAGAAACCTCA 22698793 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200079 11200080 CR973644 + 3 DM NULL LDLR Hypercholesterolaemia AGGTGAAGACATTTGAAAATCACCCCACTG[C/A]AAACTCCTCCCCCTGCTAGAAACCTCACAT 9259195 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200083 11200084 CR021774 + 3 DM NULL LDLR Hypercholesterolaemia GAAGACATTTGAAAATCACCCCACTGCAAA[C/T]TCCTCCCCCTGCTAGAAACCTCACATTGAA 11792717 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200085 11200086 CR094983 + 3 DM NULL LDLR Hypercholesterolaemia AGACATTTGAAAATCACCCCACTGCAAACT[C/G]CTCCCCCTGCTAGAAACCTCACATTGAAAT 19318025 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200085 11200086 CR108071 + 3 DM NULL LDLR Hypercholesterolaemia AGACATTTGAAAATCACCCCACTGCAAACT[C/T]CTCCCCCTGCTAGAAACCTCACATTGAAAT 20809525 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200086 11200087 CR055626 + 3 DM NULL LDLR Hypercholesterolaemia GACATTTGAAAATCACCCCACTGCAAACTC[C/A]TCCCCCTGCTAGAAACCTCACATTGAAATG 16250003 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200086 11200087 CR075255 + 3 DM NULL LDLR Hypercholesterolaemia GACATTTGAAAATCACCCCACTGCAAACTC[C/G]TCCCCCTGCTAGAAACCTCACATTGAAATG 17625505 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200087 11200088 CR951555 + 3 DM NULL LDLR Hypercholesterolaemia ACATTTGAAAATCACCCCACTGCAAACTCC[T/C]CCCCCTGCTAGAAACCTCACATTGAAATGC 8589690 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200088 11200089 CR920795 + 3 DM NULL LDLR Hypercholesterolaemia CATTTGAAAATCACCCCACTGCAAACTCCT[C/T]CCCCTGCTAGAAACCTCACATTGAAATGCT 1301956 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200089 11200090 CR116859 + 3 DM NULL LDLR Hypercholesterolaemia ATTTGAAAATCACCCCACTGCAAACTCCTC[C/G]CCCTGCTAGAAACCTCACATTGAAATGCTG 21538688 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200089 11200090 CR941557 + 3 DM NULL LDLR Hypercholesterolaemia ATTTGAAAATCACCCCACTGCAAACTCCTC[C/T]CCCTGCTAGAAACCTCACATTGAAATGCTG 7937987 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200090 11200091 CR920794 + 3 DM NULL LDLR Hypercholesterolaemia TTTGAAAATCACCCCACTGCAAACTCCTCC[C/G]CCTGCTAGAAACCTCACATTGAAATGCTGT 1301956 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200091 11200092 CR091488 + 3 DM NULL LDLR Hypercholesterolaemia TTGAAAATCACCCCACTGCAAACTCCTCCC[C/T]CTGCTAGAAACCTCACATTGAAATGCTGTA 18718593 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200104 11200105 CR0910348 + 3 DM? NULL LDLR Hypercholesterolaemia CACTGCAAACTCCTCCCCCTGCTAGAAACC[T/C]CACATTGAAATGCTGTAAATGACGTGGGCC 20236128 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200105 11200106 CR042573 + 3 DM NULL LDLR Hypercholesterolaemia ACTGCAAACTCCTCCCCCTGCTAGAAACCT[C/T]ACATTGAAATGCTGTAAATGACGTGGGCCC 15303010 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200202 11200203 CR042572 + 3 DM NULL LDLR Hypercholesterolaemia GACACAGCAGGTCGTGATCCGGGTCGGGAC[A/C]CTGCCTGGCAGAGGCTGCGAGCATGGGGCC 15241806 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200211 11200212 CR971948 + 3 DM NULL LDLR Hypercholesterolaemia GGTCGTGATCCGGGTCGGGACACTGCCTGG[C/A]AGAGGCTGCGAGCATGGGGCCCTGGGGCTG 9259195 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200212 11200213 CR106756 + 3 DM rs376011618 LDLR Hypercholesterolaemia GTCGTGATCCGGGTCGGGACACTGCCTGGC[A/G]GAGGCTGCGAGCATGGGGCCCTGGGGCTGG 20828696 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200220 11200221 CR055625 + 3 DM NULL LDLR Hypercholesterolaemia CCGGGTCGGGACACTGCCTGGCAGAGGCTG[C/T]GAGCATGGGGCCCTGGGGCTGGAAATTGCG 16250003 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200225 11200226 CM960929 + 1 DM NULL LDLR Hypercholesterolaemia tcgggacactgcctggcagaggctgcgagc[A/T]TGGGGCCCTGGGGCTGGAAATTGCGCTGGA 8831933 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200225 11200226 CM970875 + 1 DM NULL LDLR Hypercholesterolaemia tcgggacactgcctggcagaggctgcgagc[A/G]TGGGGCCCTGGGGCTGGAAATTGCGCTGGA 9237510 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200225 11200226 CM973628 + 1 DM NULL LDLR Hypercholesterolaemia tcgggacactgcctggcagaggctgcgagc[A/C]TGGGGCCCTGGGGCTGGAAATTGCGCTGGA 11600564 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200228 11200229 CM020733 + 1 DM rs5931 LDLR Hypercholesterolaemia ggacactgcctggcagaggctgcgagcATG[G/C]GGCCCTGGGGCTGGAAATTGCGCTGGACCG 11933210 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200228 11200229 CM057550 + 1 DM NULL LDLR Hypercholesterolaemia ggacactgcctggcagaggctgcgagcATG[G/A]GGCCCTGGGGCTGGAAATTGCGCTGGACCG 16250003 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200230 11200231 CD973295 + 5 DM NULL LDLR Hypercholesterolaemia ACACTGCCTGGCAGAGGCTGCGAGCATGGG[G/-]CCCTGGGGCTGGAAATTGCGCTGGACCGTC 9259195 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200233 11200234 CD920879 + 5 DM NULL LDLR Hypercholesterolaemia CTGCCTGGCAGAGGCTGCGAGCATGGGGCC[C/-]TGGGGCTGGAAATTGCGCTGGACCGTCGCC 1301956 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200235 11200236 CM014583 + 1 DM rs201016593 LDLR Hypercholesterolaemia gcctggcagaggctgcgagcATGGGGCCCT[G/A]GGGCTGGAAATTGCGCTGGACCGTCGCCTT 1301956 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200236 11200237 CM941040 + 1 DM NULL LDLR Hypercholesterolaemia cctggcagaggctgcgagcATGGGGCCCTG[G/A]GGCTGGAAATTGCGCTGGACCGTCGCCTTG 7903864 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200244 11200245 CD091489 + 5 DM NULL LDLR Hypercholesterolaemia AGGCTGCGAGCATGGGGCCCTGGGGCTGGA[AA/-]TTGCGCTGGACCGTCGCCTTGCTCCTCGCC 18718593 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200252 11200253 CM981177 + 1 DM NULL LDLR Hypercholesterolaemia agcATGGGGCCCTGGGGCTGGAAATTGCGC[T/A]GGACCGTCGCCTTGCTCCTCGCCGCGGCGG 9660059 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200252 11200262 CD095458 + 5 DM NULL LDLR Hypercholesterolaemia AGCATGGGGCCCTGGGGCTGGAAATTGCGC[TGGACCGTCGC/-]CTTGCTCCTCGCCGCGGCGGGGACTGCAGG 19446849 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200253 11200254 CM091466 + 1 DM NULL LDLR Hypercholesterolaemia gcATGGGGCCCTGGGGCTGGAAATTGCGCT[G/A]GACCGTCGCCTTGCTCCTCGCCGCGGCGGG 18718593 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200260 11200261 CI094998 + 6 DM NULL LDLR Hypercholesterolaemia CCCTGGGGCTGGAAATTGCGCTGGACCGTC[-/CGTC]GCCTTGCTCCTCGCCGCGGCGGGGACTGCA 19318025 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200265 11200266 CD127555 + 5 DM NULL LDLR Hypercholesterolaemia GGGGCTGGAAATTGCGCTGGACCGTCGCCT[T/-]GCTCCTCGCCGCGGCGGGGACTGCAGGTAA 22881376 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200265 11200266 CI056225 + 6 DM NULL LDLR Hypercholesterolaemia GGGCTGGAAATTGCGCTGGACCGTCGCCTT[-/T]GCTCCTCGCCGCGGCGGGGACTGCAGGTAA 15823276 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200268 11200269 CM023638 + 1 DM NULL LDLR Hypercholesterolaemia GCTGGAAATTGCGCTGGACCGTCGCCTTGC[T/C]CCTCGCCGCGGCGGGGACTGCAGgtaaggc 12052488 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200271 11200272 CM094954 + 1 DM NULL LDLR Hypercholesterolaemia GGAAATTGCGCTGGACCGTCGCCTTGCTCC[T/C]CGCCGCGGCGGGGACTGCAGgtaaggcttg 19318025 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200280 11200281 CM001210 + 1 DM NULL LDLR Hypercholesterolaemia GCTGGACCGTCGCCTTGCTCCTCGCCGCGG[C/A]GGGGACTGCAGgtaaggcttgctccaggcg 10782930 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200282 11200283 CM022807 + 1 DM rs147509697 LDLR Hypercholesterolaemia TGGACCGTCGCCTTGCTCCTCGCCGCGGCG[G/A]GGACTGCAGgtaaggcttgctccaggcgcc 12436241 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200288 11200289 CD122024 + 5 DM NULL LDLR Hypercholesterolaemia GTCGCCTTGCTCCTCGCCGCGGCGGGGACT[G/-]CAGGTAAGGCTTGCTCCAGGCGCCAGAATA 22353362 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200292 11200293 CS984591 + 2 DM NULL LDLR Hypercholesterolaemia CCTTGCTCCTCGCCGCGGCGGGGACTGCAG[G/A]taaggcttgctccaggcgccagaataggtt LSDB chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200293 11200294 CS022873 + 2 DM NULL LDLR Hypercholesterolaemia CTTGCTCCTCGCCGCGGCGGGGACTGCAGg[T/A]aaggcttgctccaggcgccagaataggttg 12436241 chr19 11199537 11203271 LDLR F chr19_11202981_11203478_10000_4 1 chr19 11200309 11200310 CS108890 + 2 DM rs17242759 LDLR Hypercholesterolaemia GCGGGGACTGCAGgtaaggcttgctccagg[C/A]gccagaataggttgagagggagcccccggg 19717150 chr19 11202212 11202837 LDLR F chr19_11199537_11200245_11010_4:chr19_11201146_11201303_10000_1 2 . -1 -1 . -1 . . . . . . . chr19 11202963 11203178 LDLR F chr19_11199537_11200245_11010_4:chr19_11201146_11201303_10000_1:chr19_11202981_11203271_10000_4 3 . -1 -1 . -1 . . . . . . . chr19 12404540 12406214 ZNF44 F chr19_12404610_12405004_10000_2 1 . -1 -1 . -1 . . . . . . . chr19 12404552 12404928 ZNF44 F chr19_12404610_12405004_10000_2:chr19_12405578_12405926_11000_1 2 . -1 -1 . -1 . . . . . . . chr19 12991834 12994861 DNASE2 F chr19_12994254_12994679_11000_1 1 chr19 12991919 12991920 CM1213135 - 1 FP rs112348773 DNASE2 Reduced activity TGCCAGCTCTTAGAGGGTCCGGGGAGGCGG[C/G]GCAGAGAGGGCTGCAGTACAAGTATCTGGA 23019102 chr19 12991834 12994861 DNASE2 F chr19_12994254_12994679_11000_1 1 chr19 12992336 12992337 CR004774 - 3 FP NULL DNASE2 Reduced promoter activity CTCCAAAACGCAGCATCGCGTCTCGGGGGA[G/A]GAGTCTGTACCCTCGTGATGTCCCCGCCCC 10675544 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12995717 12995718 CM130406 - 1 FP NULL KLF1 Blood group variant In(Lu) TTTTTCGCGCTCTGACCACCTGGCCTTGCA[C/A]ATGAAGCGCCACCTTTGAgccctgccctgg 23125034 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12995787 12995788 CM121774 - 1 DM? NULL KLF1 Increased Hb F levels ACGAGCTGACCCGCCACTACCGGAAACACA[C/A]GGGGCAGCGCCCCTTCCGCTGCCAGCTCTG 22102705 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12995787 12995788 CM121775 - 1 DM? NULL KLF1 Increased Hb F levels ACGAGCTGACCCGCCACTACCGGAAACACA[C/G]GGGGCAGCGCCCCTTCCGCTGCCAGCTCTG 22102705 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12995794 12995795 CM112840 - 1 DM NULL KLF1 Hereditary persistence of foetal haemoglobin CGCTCGGACGAGCTGACCCGCCACTACCGG[A/C]AACACACGGGGCAGCGCCCCTTCCGCTGCC 21273267 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12995797 12995798 CM083535 - 1 FP NULL KLF1 Blood group variant In(Lu) GCGCGCTCGGACGAGCTGACCCGCCACTAC[C/G]GGAAACACACGGGGCAGCGCCCCTTCCGCT 18487511 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12995805 12995806 CM083536 - 1 FP rs140252918 KLF1 Blood group variant In(Lu) GGAGATTCGCGCGCTCGGACGAGCTGACCC[G/A]CCACTACCGGAAACACACGGGGCAGCGCCC 18487511 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12995805 12995806 CM083537 - 1 FP NULL KLF1 Blood group variant In(Lu) GGAGATTCGCGCGCTCGGACGAGCTGACCC[G/T]CCACTACCGGAAACACACGGGGCAGCGCCC 18487511 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12995808 12995809 CM118508 - 1 DM? NULL KLF1 Borderline HbA2 level GCTGGAGATTCGCGCGCTCGGACGAGCTGA[C/G]CCGCCACTACCGGAAACACACGGGGCAGCG 21821711 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12995811 12995812 CM118479 - 1 DM? NULL KLF1 Borderline HbA2 level GCGGCTGGAGATTCGCGCGCTCGGACGAGC[T/G]GACCCGCCACTACCGGAAACACACGGGGCA 21821711 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12995815 12995816 CM099513 - 1 DM rs267607201 KLF1 Dyserythropoietic anaemia GGCTGCGGCTGGAGATTCGCGCGCTCGGAC[G/A]AGCTGACCCGCCACTACCGGAAACACACGG ABST chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12995833 12995834 CI084287 - 6 DM NULL KLF1 Blood group variant In(Lu) TACGCCTGCACGTGGGAAGGCTGCGGCTGG[-/G]AGATTCGCGCGCTCGGACGAGCTGACCCGC 18487511 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12995849 12995850 CM121792 - 1 DM? NULL KLF1 Increased Hb F levels cctagGGGAGAAGCCATACGCCTGCACGTG[G/T]GAAGGCTGCGGCTGGAGATTCGCGCGCTCG 22102705 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12995875 12995878 CD121785 - 5 DM NULL KLF1 Increased Hb F levels AGACAGTGGCGCTTATGGCTTCCTTGTCCC[CTAG/-]GGGAGAAGCCATACGCCTGCACGTGGGAAG 22102705 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12996130 12996131 CS121778 - 2 DM? NULL KLF1 Increased Hb F levels ACCTGAAGGCGCATCTGCGCACGCACACAG[G/A]tgagggggcggggccccggacatgagaaag 22102705 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12996140 12996141 CI138742 - 6 DM NULL KLF1 Increased Hb F levels AAGAGCTCCCACCTGAAGGCGCATCTGCGC[-/GCGC]ACGCACACAGGTGAGGGGGCGGGGCCCCGG 23806141 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12996142 12996143 CM121773 - 1 DM? NULL KLF1 Increased Hb F levels CCAAGAGCTCCCACCTGAAGGCGCATCTGC[G/A]CACGCACACAGgtgagggggcggggccccg 22102705 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12996143 12996144 CM121772 - 1 DM? NULL KLF1 Increased Hb F levels ACCAAGAGCTCCCACCTGAAGGCGCATCTG[C/T]GCACGCACACAGgtgagggggcggggcccc 22102705 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12996149 12996150 CM083538 - 1 FP rs137852688 KLF1 Blood group variant In(Lu) AGCTACACCAAGAGCTCCCACCTGAAGGCG[C/T]ATCTGCGCACGCACACAGgtgagggggcgg 18487511 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12996170 12996171 CM083534 - 1 FP rs137852687 KLF1 Blood group variant In(Lu) GCGCACCCGGGTTGCGGCAAGAGCTACACC[A/T]AGAGCTCCCACCTGAAGGCGCATCTGCGCA 18487511 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12996182 12996183 CM105458 - 1 DM rs267607202 KLF1 Hereditary persistence of foetal haemoglobin GCGCACACGTGCGCGCACCCGGGTTGCGGC[A/T]AGAGCTACACCAAGAGCTCCCACCTGAAGG 20676099 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12996182 12996183 CM130405 - 1 FP NULL KLF1 Blood group variant In(Lu) GCGCACACGTGCGCGCACCCGGGTTGCGGC[A/G]AGAGCTACACCAAGAGCTCCCACCTGAAGG 23125034 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12996195 12996206 CD118480 - 5 DM? NULL KLF1 Borderline HbA2 level TCGTGGGCGCGCAAGAGGCAGGCAGCGCAC[ACGTGCGCGCAC/-]CCGGGTTGCGGCAAGAGCTACACCAAGAGC 21821711 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12996235 12996236 CM112841 - 1 DM NULL KLF1 Hereditary persistence of foetal haemoglobin AGACCGCGCCATCCAAGCGAGGCCGACGTT[C/A]GTGGGCGCGCAAGAGGCAGGCAGCGCACAC 21273267 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12996381 12996382 CD130407 - 5 FP NULL KLF1 Blood group variant In(Lu) GTACCAAGGGCACTTCCAGCTCTTCCGCGG[G/-]CTCCAGGGACCCGCGCCCGGTCCCGCCACG 23125034 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12996453 12996454 CM130404 - 1 FP NULL KLF1 Blood group variant In(Lu) TTCAGTGCCTGCGGCGTCGGGCGCCCCCTA[C/G]GGGCTACTGTCCGGGTACCCCGCGATGTAC 23125034 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12996475 12996476 CD084157 - 5 DM NULL KLF1 Blood group variant In(Lu) GCTACTTCCCGCGGACCGGGCTTTCAGTGC[C/-]TGCGGCGTCGGGCGCCCCCTACGGGCTACT 18487511 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12996498 12996499 CM1111664 - 1 FP NULL KLF1 Blood group variant In(Lu) GCCCGGCGCCGGCTCCTCGGGTGGCTACTT[C/G]CCGCGGACCGGGCTTTCAGTGCCTGCGGCG 21423179 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12996517 12996518 CI121790 - 6 DM NULL KLF1 Increased Hb F levels TGCAACCGGTGTACCCGGGGCCCGGCGCCG[-/CGGCGCC]GCTCCTCGGGTGGCTACTTCCCGCGGACCG 22102705 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12996518 12996519 CI130410 - 6 FP NULL KLF1 Blood group variant In(Lu) CTGCAACCGGTGTACCCGGGGCCCGGCGCC[-/CGGCGCC]GGCTCCTCGGGTGGCTACTTCCCGCGGACC 23125034 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12996524 12996525 CI130409 - 6 FP NULL KLF1 Blood group variant In(Lu) CTGGCGCTGCAACCGGTGTACCCGGGGCCC[-/C]GGCGCCGGCTCCTCGGGTGGCTACTTCCCG 23125034 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12996664 12996665 CM083539 - 1 FP NULL KLF1 Blood group variant In(Lu) CTGGCGGCCCGGGGCTGGTGGCTGGGCTTT[T/A]GGGTTCGGAGGATCACTCGGGTTGGGTGCG 18487511 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12996733 12996734 CI130408 - 6 FP NULL KLF1 Blood group variant In(Lu) GCGCTCTGGCGCCCAGCGAGGCCTCCGGGG[-/G]CGCAATATCCGCCGCCGCCCGAGACTCTGG 23125034 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12996875 12996885 CD121777 - 5 DM NULL KLF1 Increased Hb F levels TCCTGACCCCACGGAGCCGCCCCTCCACGT[GAAGTCTGAGG/-]ACCAGCCCGGGGAGGAAGAGGACGATGAGA 22102705 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12996892 12996893 CM121776 - 1 DM? NULL KLF1 Increased Hb F levels CGGGTCCTCCTGACCCCACGGAGCCGCCCC[T/G]CCACGTGAAGTCTGAGGACCAGCCCGGGGA 22102705 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12998078 12998079 CR084007 - 3 DM NULL KLF1 Blood group variant In(Lu) CCCCCCGCCGCCTTGCCTTGCTTTGCCTTA[T/C]CAGAGGCTGCAGCCAATCAGCTAAGGACAG 18487511 chr19 12994460 12998517 KLF1 F chr19_12994254_12994679_11000_1 1 chr19 12998102 12998103 CR1111665 - 3 FP rs79334031 KLF1 Blood group variant In(Lu) AAGTTTGTGCCCCAGAAACAGTGCCCCCCC[G/A]CCGCCTTGCCTTGCTTTGCCTTATCAGAGG 21423179 chr19 12994554 12994766 DNASE2 F chr19_12992140_12992436_11100_2:chr19_12994218_12994679_11000_1 2 . -1 -1 . -1 . . . . . . . chr19 12994554 12994766 KLF1 F chr19_12994460_12994679_11000_1 1 . -1 -1 . -1 . . . . . . . chr19 14115648 14116111 RFX1 F chr19_14115720_14116240_00000_2:chr19_14117060_14117305_11000_1 2 . -1 -1 . -1 . . . . . . . chr19 14115679 14117634 RFX1 F chr19_14115720_14116240_00000_2 1 . -1 -1 . -1 . . . . . . . chr19 14528800 14529217 DDX39A F chr19_14530213_14530388_11110_1 1 . -1 -1 . -1 . . . . . . . chr19 14632915 14633462 DNAJB1 F chr19_14628839_14628951_00000_1:chr19_14629395_14629640_00000_1:chr19_14630775_14630896_00000_1 3 . -1 -1 . -1 . . . . . . . chr19 15577896 15578094 RASAL3 F chr19_15575607_15575742_11000_2 1 . -1 -1 . -1 . . . . . . . chr19 15751206 15753152 CYP4F3 F chr19_15752864_15753133_11000_2 1 . -1 -1 . -1 . . . . . . . chr19 15752781 15753122 CYP4F3 F chr19_15751230_15752229_11000_3:chr19_15752864_15753133_11000_2 2 . -1 -1 . -1 . . . . . . . chr19 17188668 17188879 HAUS8 F chr19_17186367_17186505_10010_1 1 . -1 -1 . -1 . . . . . . . chr19 17188668 17188879 MYO9B F chr19_17186367_17186505_10010_1 1 . -1 -1 . -1 . . . . . . . chr19 17190539 17191239 MYO9B F chr19_17186367_17186505_10010_1:chr19_17189195_17189669_10000_2 2 . -1 -1 . -1 . . . . . . . chr19 17667126 17667426 GLT25D1 F chr19_17666274_17666447_10010_1 1 . -1 -1 . -1 . . . . . . . chr19 17970294 17971447 RPL18A S chr19_18589734_18589955_11000_2 1 . -1 -1 . -1 . . . . . . . chr19 18282501 18282708 IFI30 F chr19_18284315_18284535_11000_2 1 . -1 -1 . -1 . . . . . . . chr19 18390167 18391717 KIAA1683 S chr19_18589734_18589955_11000_2 1 . -1 -1 . -1 . . . . . . . chr19 18496409 18497979 GDF15 S chr19_18589734_18589955_11000_2 1 . -1 -1 . -1 . . . . . . . chr19 18496467 18498001 GDF15 F chr19_18497594_18497807_11010_2 1 . -1 -1 . -1 . . . . . . . chr19 18497624 18497977 GDF15 F chr19_18496467_18497057_11010_3:chr19_18497594_18497807_11010_2 2 . -1 -1 . -1 . . . . . . . chr19 18504645 18504988 LRRC25 F chr19_18507269_18507560_11010_1 1 . -1 -1 . -1 . . . . . . . chr19 18589079 18590172 GDF15 S chr19_18496426_18497057_11010_3:chr19_18497594_18497807_11010_2 2 . -1 -1 . -1 . . . . . . . chr19 18589079 18590172 KIAA1683 S chr19_18390368_18390535_10010_1 1 . -1 -1 . -1 . . . . . . . chr19 18630894 18633437 ELL F chr19_18630769_18631141_11010_1 1 . -1 -1 . -1 . . . . . . . chr19 18630929 18631259 ELL F chr19_18630894_18631141_11010_1:chr19_18633044_18633437_11010_2 2 . -1 -1 . -1 . . . . . . . chr19 18631384 18632027 ELL F chr19_18633044_18633437_11010_2 1 . -1 -1 . -1 . . . . . . . chr19 18631505 18633437 ELL F chr19_18631084_18631141_11010_1 1 . -1 -1 . -1 . . . . . . . chr19 18716767 18717297 CRLF1 S chr19_18589734_18589955_11000_2 1 . -1 -1 . -1 . . . . . . . chr19 19143307 19143510 ARMC6 F chr19_19144330_19144633_11000_1 1 . -1 -1 . -1 . . . . . . . chr19 19143307 19143510 SUGP2 F chr19_19144330_19144633_11000_1 1 . -1 -1 . -1 . . . . . . . chr19 19517876 19518021 GATAD2A S chr19_18618800_18618889_11000_1 1 . -1 -1 . -1 . . . . . . . chr19 19977247 19977754 ZNF253 F chr19_19976482_19976612_00000_1 1 . -1 -1 . -1 . . . . . . . chr19 21687936 21689624 ZNF429 F chr19_21688902_21688969_00000_1:chr19_21689371_21689528_00000_1 2 . -1 -1 . -1 . . . . . . . chr19 21689202 21689645 ZNF429 F chr19_21688726_21688969_00000_1:chr19_21689371_21689528_00000_1 2 . -1 -1 . -1 . . . . . . . chr19 30155826 30157584 PLEKHF1 F chr19_30157100_30157591_10101_1 1 . -1 -1 . -1 . . . . . . . chr19 30157267 30157499 PLEKHF1 F chr19_30155848_30156068_10001_1:chr19_30157100_30157584_10101_1 2 . -1 -1 . -1 . . . . . . . chr19 32864800 32865348 CEBPA-AS1 S chr19_33793067_33793179_11000_1:chr19_33793366_33793811_11000_1:chr19_33794075_33794201_10000_1 3 . -1 -1 . -1 . . . . . . . chr19 33792929 33796549 CEBPA F chr19_33796296_33796463_11000_1 1 chr19 33793119 33793120 CI087025 - 6 DM rs137852731 CEBPA Acute myeloid leukaemia CACGAGACGTCCATCGACATCAGCGCCTAC[-/CTAC]ATCGACCCGGCCGCCTTCAACGACGAGTTC ABST chr19 33792929 33796549 CEBPA F chr19_33796296_33796463_11000_1 1 chr19 33793132 33793133 CD118400 - 5 DM NULL CEBPA Acute myeloid leukaemia CGGCATCTGCGAGCACGAGACGTCCATCGA[C/-]ATCAGCGCCTACATCGACCCGGCCGCCTTC 21455213 chr19 33792929 33796549 CEBPA F chr19_33796296_33796463_11000_1 1 chr19 33793252 33793253 CI056483 - 6 DM rs137852729 CEBPA Acute myeloid leukaemia CCCGATGAGCAGCCACCTGCAGAGCCCCCC[-/C]GCACGCGCCCAGCAGCGCCGCCTTCGGCTT 15902292 chr19 33792929 33796549 CEBPA F chr19_33796296_33796463_11000_1 1 chr19 33793253 33793254 CD043401 - 5 DM rs137852728 CEBPA Acute myeloid leukaemia CCCCGATGAGCAGCCACCTGCAGAGCCCCC[C/-]GCACGCGCCCAGCAGCGCCGCCTTCGGCTT 15575056 chr19 33793058 33794838 CEBPA-AS1 S chr19_32864800_32865148_11010_3 1 chr19 33793119 33793120 CI087025 - 6 DM rs137852731 CEBPA Acute myeloid leukaemia CACGAGACGTCCATCGACATCAGCGCCTAC[-/CTAC]ATCGACCCGGCCGCCTTCAACGACGAGTTC ABST chr19 33793058 33794838 CEBPA-AS1 S chr19_32864800_32865148_11010_3 1 chr19 33793132 33793133 CD118400 - 5 DM NULL CEBPA Acute myeloid leukaemia CGGCATCTGCGAGCACGAGACGTCCATCGA[C/-]ATCAGCGCCTACATCGACCCGGCCGCCTTC 21455213 chr19 33793058 33794838 CEBPA-AS1 S chr19_32864800_32865148_11010_3 1 chr19 33793252 33793253 CI056483 - 6 DM rs137852729 CEBPA Acute myeloid leukaemia CCCGATGAGCAGCCACCTGCAGAGCCCCCC[-/C]GCACGCGCCCAGCAGCGCCGCCTTCGGCTT 15902292 chr19 33793058 33794838 CEBPA-AS1 S chr19_32864800_32865148_11010_3 1 chr19 33793253 33793254 CD043401 - 5 DM rs137852728 CEBPA Acute myeloid leukaemia CCCCGATGAGCAGCCACCTGCAGAGCCCCC[C/-]GCACGCGCCCAGCAGCGCCGCCTTCGGCTT 15575056 chr19 33796303 33796393 CEBPA F chr19_33793067_33793179_11000_1:chr19_33793366_33793811_11000_1:chr19_33794075_33794201_10000_1:chr19_33796296_33796463_11000_1 4 . -1 -1 . -1 . . . . . . . chr19 34662851 34664784 LSM14A F chr19_34664131_34664477_11101_2 1 . -1 -1 . -1 . . . . . . . chr19 34664379 34664787 LSM14A F chr19_34664131_34664477_11101_2 1 . -1 -1 . -1 . . . . . . . chr19 34744955 34746306 KIAA0355 F chr19_34746350_34746469_10100_1 1 . -1 -1 . -1 . . . . . . . chr19 34746041 34746169 KIAA0355 F chr19_34745075_34745507_11101_3 1 . -1 -1 . -1 . . . . . . . chr19 35497000 35498000 HPN S chr19_35531769_35532248_11111_2:chr19_35533223_35533629_11111_2 2 . -1 -1 . -1 . . . . . . . chr19 35497000 35498000 LSR S chr19_35738828_35739863_00000_2 1 . -1 -1 . -1 . . . . . . . chr19 35497000 35498000 ZBTB32 S chr19_36208438_36208548_11110_1 1 . -1 -1 . -1 . . . . . . . chr19 35530913 35533653 HPN S chr19_35497371_35497548_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 35738636 35740351 LSR S chr19_35497371_35497548_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 35763394 35763606 USF2 F chr19_35760657_35760846_10101_1:chr19_35762519_35762750_10101_2 2 . -1 -1 . -1 . . . . . . . chr19 36207216 36208950 ZBTB32 S chr19_35497371_35497548_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 37156610 37156902 ZNF461 F chr19_37157702_37157958_10000_3 1 . -1 -1 . -1 . . . . . . . chr19 38209994 38210883 ZNF607 S chr19_39192118_39192391_11110_2 1 . -1 -1 . -1 . . . . . . . chr19 38396998 38398271 SIPA1L3 S chr19_39192118_39192391_11110_2 1 . -1 -1 . -1 . . . . . . . chr19 38791279 38795304 C19orf33 F chr19_38791491_38791686_10100_2 1 . -1 -1 . -1 . . . . . . . chr19 38791297 38791661 C19orf33 F chr19_38791491_38791686_10100_2 1 . -1 -1 . -1 . . . . . . . chr19 39137869 39138649 ACTN4 S chr19_39192118_39192391_11110_2 1 chr19 39138352 39138353 CR095216 + 3 DM NULL ACTN4 Glomerulosclerosis: focal and segmental CGGGCAGAGGGGCGGGAGCTGAGGCGGGAG[C/T]GGACAGGCTGGTGGGCGAGCGAGAGGCGGC 19666657 chr19 39190844 39192600 21185 S chr19_39902780_39903182_10010_2 1 chr19 39191252 39191253 CM056514 + 1 DM NULL ACTN4 Glomerulosclerosis: focal and segmental tttgttctgcttccccagACCTTCACGGCA[T/C]GGTGCAACTCCCACCTGCGGAAGGCAGGCA 16251236 chr19 39190844 39192600 21185 S chr19_39902780_39903182_10010_2 1 chr19 39191261 39191262 CM099872 + 1 DM? NULL ACTN4 Glomerulosclerosis: focal and segmental cttccccagACCTTCACGGCATGGTGCAAC[T/A]CCCACCTGCGGAAGGCAGGCACACAGATCG 19142020 chr19 39190844 39192600 21185 S chr19_39902780_39903182_10010_2 1 chr19 39191291 39191292 CM137816 + 1 DM NULL ACTN4 Glomerulosclerosis: focal and segmental TCCCACCTGCGGAAGGCAGGCACACAGATC[G/C]AGAACATTGATGAGGACTTCCGAGACGGGC 23014460 chr19 39190844 39192600 ACTN4 S chr19_39137869_39138309_10000_2 1 chr19 39191252 39191253 CM056514 + 1 DM NULL ACTN4 Glomerulosclerosis: focal and segmental tttgttctgcttccccagACCTTCACGGCA[T/C]GGTGCAACTCCCACCTGCGGAAGGCAGGCA 16251236 chr19 39190844 39192600 ACTN4 S chr19_39137869_39138309_10000_2 1 chr19 39191261 39191262 CM099872 + 1 DM? NULL ACTN4 Glomerulosclerosis: focal and segmental cttccccagACCTTCACGGCATGGTGCAAC[T/A]CCCACCTGCGGAAGGCAGGCACACAGATCG 19142020 chr19 39190844 39192600 ACTN4 S chr19_39137869_39138309_10000_2 1 chr19 39191291 39191292 CM137816 + 1 DM NULL ACTN4 Glomerulosclerosis: focal and segmental TCCCACCTGCGGAAGGCAGGCACACAGATC[G/C]AGAACATTGATGAGGACTTCCGAGACGGGC 23014460 chr19 39190844 39192600 ECH1 S chr19_39321764_39322029_10100_2:chr19_39322346_39322749_11111_4 2 chr19 39191252 39191253 CM056514 + 1 DM NULL ACTN4 Glomerulosclerosis: focal and segmental tttgttctgcttccccagACCTTCACGGCA[T/C]GGTGCAACTCCCACCTGCGGAAGGCAGGCA 16251236 chr19 39190844 39192600 ECH1 S chr19_39321764_39322029_10100_2:chr19_39322346_39322749_11111_4 2 chr19 39191261 39191262 CM099872 + 1 DM? NULL ACTN4 Glomerulosclerosis: focal and segmental cttccccagACCTTCACGGCATGGTGCAAC[T/A]CCCACCTGCGGAAGGCAGGCACACAGATCG 19142020 chr19 39190844 39192600 ECH1 S chr19_39321764_39322029_10100_2:chr19_39322346_39322749_11111_4 2 chr19 39191291 39191292 CM137816 + 1 DM NULL ACTN4 Glomerulosclerosis: focal and segmental TCCCACCTGCGGAAGGCAGGCACACAGATC[G/C]AGAACATTGATGAGGACTTCCGAGACGGGC 23014460 chr19 39190844 39192600 HNRNPL S chr19_39339965_39340282_11111_2:chr19_39340641_39340800_10101_2 2 chr19 39191252 39191253 CM056514 + 1 DM NULL ACTN4 Glomerulosclerosis: focal and segmental tttgttctgcttccccagACCTTCACGGCA[T/C]GGTGCAACTCCCACCTGCGGAAGGCAGGCA 16251236 chr19 39190844 39192600 HNRNPL S chr19_39339965_39340282_11111_2:chr19_39340641_39340800_10101_2 2 chr19 39191261 39191262 CM099872 + 1 DM? NULL ACTN4 Glomerulosclerosis: focal and segmental cttccccagACCTTCACGGCATGGTGCAAC[T/A]CCCACCTGCGGAAGGCAGGCACACAGATCG 19142020 chr19 39190844 39192600 HNRNPL S chr19_39339965_39340282_11111_2:chr19_39340641_39340800_10101_2 2 chr19 39191291 39191292 CM137816 + 1 DM NULL ACTN4 Glomerulosclerosis: focal and segmental TCCCACCTGCGGAAGGCAGGCACACAGATC[G/C]AGAACATTGATGAGGACTTCCGAGACGGGC 23014460 chr19 39190844 39192600 PAF1 S chr19_39881662_39882041_11010_2 1 chr19 39191252 39191253 CM056514 + 1 DM NULL ACTN4 Glomerulosclerosis: focal and segmental tttgttctgcttccccagACCTTCACGGCA[T/C]GGTGCAACTCCCACCTGCGGAAGGCAGGCA 16251236 chr19 39190844 39192600 PAF1 S chr19_39881662_39882041_11010_2 1 chr19 39191261 39191262 CM099872 + 1 DM? NULL ACTN4 Glomerulosclerosis: focal and segmental cttccccagACCTTCACGGCATGGTGCAAC[T/A]CCCACCTGCGGAAGGCAGGCACACAGATCG 19142020 chr19 39190844 39192600 PAF1 S chr19_39881662_39882041_11010_2 1 chr19 39191291 39191292 CM137816 + 1 DM NULL ACTN4 Glomerulosclerosis: focal and segmental TCCCACCTGCGGAAGGCAGGCACACAGATC[G/C]AGAACATTGATGAGGACTTCCGAGACGGGC 23014460 chr19 39190844 39192600 PAK4 S chr19_39616208_39616948_10100_2 1 chr19 39191252 39191253 CM056514 + 1 DM NULL ACTN4 Glomerulosclerosis: focal and segmental tttgttctgcttccccagACCTTCACGGCA[T/C]GGTGCAACTCCCACCTGCGGAAGGCAGGCA 16251236 chr19 39190844 39192600 PAK4 S chr19_39616208_39616948_10100_2 1 chr19 39191261 39191262 CM099872 + 1 DM? NULL ACTN4 Glomerulosclerosis: focal and segmental cttccccagACCTTCACGGCATGGTGCAAC[T/A]CCCACCTGCGGAAGGCAGGCACACAGATCG 19142020 chr19 39190844 39192600 PAK4 S chr19_39616208_39616948_10100_2 1 chr19 39191291 39191292 CM137816 + 1 DM NULL ACTN4 Glomerulosclerosis: focal and segmental TCCCACCTGCGGAAGGCAGGCACACAGATC[G/C]AGAACATTGATGAGGACTTCCGAGACGGGC 23014460 chr19 39190844 39192600 RPS16 S chr19_39926572_39926769_00000_2 1 chr19 39191252 39191253 CM056514 + 1 DM NULL ACTN4 Glomerulosclerosis: focal and segmental tttgttctgcttccccagACCTTCACGGCA[T/C]GGTGCAACTCCCACCTGCGGAAGGCAGGCA 16251236 chr19 39190844 39192600 RPS16 S chr19_39926572_39926769_00000_2 1 chr19 39191261 39191262 CM099872 + 1 DM? NULL ACTN4 Glomerulosclerosis: focal and segmental cttccccagACCTTCACGGCATGGTGCAAC[T/A]CCCACCTGCGGAAGGCAGGCACACAGATCG 19142020 chr19 39190844 39192600 RPS16 S chr19_39926572_39926769_00000_2 1 chr19 39191291 39191292 CM137816 + 1 DM NULL ACTN4 Glomerulosclerosis: focal and segmental TCCCACCTGCGGAAGGCAGGCACACAGATC[G/C]AGAACATTGATGAGGACTTCCGAGACGGGC 23014460 chr19 39190844 39192600 SAMD4B S chr19_39832571_39832767_10000_1 1 chr19 39191252 39191253 CM056514 + 1 DM NULL ACTN4 Glomerulosclerosis: focal and segmental tttgttctgcttccccagACCTTCACGGCA[T/C]GGTGCAACTCCCACCTGCGGAAGGCAGGCA 16251236 chr19 39190844 39192600 SAMD4B S chr19_39832571_39832767_10000_1 1 chr19 39191261 39191262 CM099872 + 1 DM? NULL ACTN4 Glomerulosclerosis: focal and segmental cttccccagACCTTCACGGCATGGTGCAAC[T/A]CCCACCTGCGGAAGGCAGGCACACAGATCG 19142020 chr19 39190844 39192600 SAMD4B S chr19_39832571_39832767_10000_1 1 chr19 39191291 39191292 CM137816 + 1 DM NULL ACTN4 Glomerulosclerosis: focal and segmental TCCCACCTGCGGAAGGCAGGCACACAGATC[G/C]AGAACATTGATGAGGACTTCCGAGACGGGC 23014460 chr19 39190844 39192600 SARS2 S chr19_39466703_39466903_11000_1:chr19_39467056_39467345_11000_2 2 chr19 39191252 39191253 CM056514 + 1 DM NULL ACTN4 Glomerulosclerosis: focal and segmental tttgttctgcttccccagACCTTCACGGCA[T/C]GGTGCAACTCCCACCTGCGGAAGGCAGGCA 16251236 chr19 39190844 39192600 SARS2 S chr19_39466703_39466903_11000_1:chr19_39467056_39467345_11000_2 2 chr19 39191261 39191262 CM099872 + 1 DM? NULL ACTN4 Glomerulosclerosis: focal and segmental cttccccagACCTTCACGGCATGGTGCAAC[T/A]CCCACCTGCGGAAGGCAGGCACACAGATCG 19142020 chr19 39190844 39192600 SARS2 S chr19_39466703_39466903_11000_1:chr19_39467056_39467345_11000_2 2 chr19 39191291 39191292 CM137816 + 1 DM NULL ACTN4 Glomerulosclerosis: focal and segmental TCCCACCTGCGGAAGGCAGGCACACAGATC[G/C]AGAACATTGATGAGGACTTCCGAGACGGGC 23014460 chr19 39190844 39192600 SIPA1L3 S chr19_38397720_38397863_00000_1 1 chr19 39191252 39191253 CM056514 + 1 DM NULL ACTN4 Glomerulosclerosis: focal and segmental tttgttctgcttccccagACCTTCACGGCA[T/C]GGTGCAACTCCCACCTGCGGAAGGCAGGCA 16251236 chr19 39190844 39192600 SIPA1L3 S chr19_38397720_38397863_00000_1 1 chr19 39191261 39191262 CM099872 + 1 DM? NULL ACTN4 Glomerulosclerosis: focal and segmental cttccccagACCTTCACGGCATGGTGCAAC[T/A]CCCACCTGCGGAAGGCAGGCACACAGATCG 19142020 chr19 39190844 39192600 SIPA1L3 S chr19_38397720_38397863_00000_1 1 chr19 39191291 39191292 CM137816 + 1 DM NULL ACTN4 Glomerulosclerosis: focal and segmental TCCCACCTGCGGAAGGCAGGCACACAGATC[G/C]AGAACATTGATGAGGACTTCCGAGACGGGC 23014460 chr19 39321764 39322749 ECH1 S chr19_39192118_39192391_11110_2 1 . -1 -1 . -1 . . . . . . . chr19 39339816 39340800 HNRNPL S chr19_39192118_39192391_11110_2 1 . -1 -1 . -1 . . . . . . . chr19 39420828 39422217 SARS2 S chr19_39192118_39192391_11110_2 1 . -1 -1 . -1 . . . . . . . chr19 39465791 39467560 SARS2 S chr19_39192118_39192391_11110_2 1 . -1 -1 . -1 . . . . . . . chr19 39616170 39617010 PAK4 S chr19_39192118_39192391_11110_2 1 . -1 -1 . -1 . . . . . . . chr19 39826225 39828951 GMFG F chr19_39828858_39828986_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 39828554 39828947 GMFG F chr19_39828858_39828951_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 39832076 39832767 SAMD4B S chr19_39192118_39192391_11110_2 1 . -1 -1 . -1 . . . . . . . chr19 39881252 39882456 PAF1 S chr19_39192118_39192391_11110_2 1 . -1 -1 . -1 . . . . . . . chr19 39894353 39894945 ZFP36 F chr19_39894449_39894567_11010_2 1 . -1 -1 . -1 . . . . . . . chr19 39894449 39897987 ZFP36 F chr19_39894295_39894567_11010_2 1 chr19 39897293 39897294 CR087182 + 3 DFP rs251864 ZFP36 Rheumatoid arthritis: shorter duration: association with ACCCCTTCCCCACGCATTCCCCGCTCGGTC[A/G]CGGCTGTCCACCGGCCAAGCTCAGGCGCGT 18536977 chr19 39897231 39898096 21185 S chr19_39192118_39192391_11110_2 1 chr19 39897293 39897294 CR087182 + 3 DFP rs251864 ZFP36 Rheumatoid arthritis: shorter duration: association with ACCCCTTCCCCACGCATTCCCCGCTCGGTC[A/G]CGGCTGTCCACCGGCCAAGCTCAGGCGCGT 18536977 chr19 39902487 39903769 21185 S chr19_39192118_39192391_11110_2 1 . -1 -1 . -1 . . . . . . . chr19 39925759 39925859 RPS16 S chr19_39192118_39192391_11110_2 1 . -1 -1 . -1 . . . . . . . chr19 39926153 39927073 RPS16 S chr19_39192118_39192391_11110_2 1 . -1 -1 . -1 . . . . . . . chr19 40022928 40023677 EID2B S chr19_39192118_39192391_11110_2 1 . -1 -1 . -1 . . . . . . . chr19 40030531 40030990 EID2 S chr19_39192118_39192391_11110_2 1 . -1 -1 . -1 . . . . . . . chr19 40930264 40930817 SERTAD1 F chr19_40931686_40931916_11110_1 1 . -1 -1 . -1 . . . . . . . chr19 40969413 40972225 BLVRB F chr19_40969493_40969819_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 40969437 40969789 BLVRB F chr19_40969493_40969819_10000_1:chr19_40971198_40971388_10010_2:chr19_40971622_40971765_10111_1:chr19_40972104_40972225_10101_3 4 . -1 -1 . -1 . . . . . . . chr19 41226531 41226793 ITPKC F chr19_41222810_41223033_11000_1:chr19_41223366_41223694_11010_1:chr19_41224739_41225165_11000_2 3 . -1 -1 . -1 . . . . . . . chr19 41771602 41771660 HNRNPUL1 F chr19_41767977_41768090_10000_1:chr19_41768283_41768581_11111_2:chr19_41769619_41770136_11111_1 3 . -1 -1 . -1 . . . . . . . chr19 41814358 41816594 CCDC97 F chr19_41814560_41814733_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 41814398 41814719 CCDC97 F chr19_41814560_41814733_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 41827552 41828400 ENSG00000105372 S chr19_42363618_42364317_11000_2 1 . -1 -1 . -1 . . . . . . . chr19 42392000 42392592 DEDD2 S chr19_42721891_42722067_11100_1 1 . -1 -1 . -1 . . . . . . . chr19 42392000 42392592 ENSG00000105372 S chr19_42363618_42364317_11000_2 1 . -1 -1 . -1 . . . . . . . chr19 42392000 42392592 MEGF8 S chr19_42829532_42829666_11111_1 1 . -1 -1 . -1 . . . . . . . chr19 42790019 42790200 ENSG00000105372 S chr19_42363618_42364317_11000_2 1 . -1 -1 . -1 . . . . . . . chr19 44506713 44507494 ZNF230 S chr19_45427534_45427925_10000_3:chr19_45428655_45429278_10000_2 2 . -1 -1 . -1 . . . . . . . chr19 44555398 44555498 ZNF223 F chr19_44555932_44556203_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 45279679 45279961 CBLC F chr19_45280997_45281124_10000_1:chr19_45281436_45281626_11100_1 2 . -1 -1 . -1 . . . . . . . chr19 45311400 45311672 BCAM S chr19_45439151_45439359_10000_4 1 . -1 -1 . -1 . . . . . . . chr19 45347874 45348392 PVRL2 S chr19_45414482_45414726_10000_1:chr19_45439151_45439359_10000_4 2 . -1 -1 . -1 . . . . . . . chr19 45348789 45349866 PVRL2 S chr19_45414482_45414726_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 45350775 45351289 PVRL2 F chr19_45349037_45349471_11111_1 1 . -1 -1 . -1 . . . . . . . chr19 45393507 45395083 TOMM40 S chr19_45548935_45549400_11000_3 1 . -1 -1 . -1 . . . . . . . chr19 45393544 45394977 TOMM40 F chr19_45393661_45394166_10000_2 1 . -1 -1 . -1 . . . . . . . chr19 45393623 45393866 TOMM40 F chr19_45393661_45394222_10000_2 1 . -1 -1 . -1 . . . . . . . chr19 45406986 45407600 APOE S chr19_45414482_45414726_10000_1:chr19_45427534_45427925_10000_3:chr19_45428655_45429278_10000_2:chr19_45439151_45439359_10000_4 4 . -1 -1 . -1 . . . . . . . chr19 45414200 45414807 APOE S chr19_45407026_45407439_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 45414200 45414807 PVRL2 S chr19_45348068_45348215_11111_1:chr19_45349037_45349471_11111_1 2 . -1 -1 . -1 . . . . . . . chr19 45414200 45414807 VASP S chr19_46010602_46010752_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 45427054 45429400 21183 S chr19_45981696_45981977_10111_1:chr19_45982389_45982541_10010_1 2 . -1 -1 . -1 . . . . . . . chr19 45427054 45429400 APOE S chr19_45407026_45407439_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 45427054 45429400 DMPK S chr19_46272563_46272718_11110_2:chr19_46273825_46274131_11010_2 2 . -1 -1 . -1 . . . . . . . chr19 45427054 45429400 QPCTL S chr19_46195189_46195958_11111_3:chr19_46196617_46196764_10000_1 2 . -1 -1 . -1 . . . . . . . chr19 45427054 45429400 TRAPPC6A S chr19_45681427_45681693_10000_2 1 . -1 -1 . -1 . . . . . . . chr19 45427054 45429400 VASP S chr19_46010602_46010752_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 45427054 45429400 ZNF230 S chr19_44506957_44507224_10000_2 1 . -1 -1 . -1 . . . . . . . chr19 45438876 45439660 21183 S chr19_45981696_45981977_10111_1:chr19_45982389_45982541_10010_1 2 chr19 45439163 45439164 CR084697 + 3 DP rs35136575 APOC1 LDL cholesterol levels: association with CAGGCTCTGTTTTTGGGCCCGCCCTGCCCC[C/G]TTCCGACCTCTTAGTTCCTATCCTCCAGCA 18378515 chr19 45438876 45439660 APOE S chr19_45407026_45407439_10000_1 1 chr19 45439163 45439164 CR084697 + 3 DP rs35136575 APOC1 LDL cholesterol levels: association with CAGGCTCTGTTTTTGGGCCCGCCCTGCCCC[C/G]TTCCGACCTCTTAGTTCCTATCCTCCAGCA 18378515 chr19 45438876 45439660 BCAM S chr19_45311400_45311616_10100_1 1 chr19 45439163 45439164 CR084697 + 3 DP rs35136575 APOC1 LDL cholesterol levels: association with CAGGCTCTGTTTTTGGGCCCGCCCTGCCCC[C/G]TTCCGACCTCTTAGTTCCTATCCTCCAGCA 18378515 chr19 45438876 45439660 DMPK S chr19_46272563_46272718_11110_2:chr19_46273825_46274131_11010_2 2 chr19 45439163 45439164 CR084697 + 3 DP rs35136575 APOC1 LDL cholesterol levels: association with CAGGCTCTGTTTTTGGGCCCGCCCTGCCCC[C/G]TTCCGACCTCTTAGTTCCTATCCTCCAGCA 18378515 chr19 45438876 45439660 PVRL2 S chr19_45348068_45348215_11111_1 1 chr19 45439163 45439164 CR084697 + 3 DP rs35136575 APOC1 LDL cholesterol levels: association with CAGGCTCTGTTTTTGGGCCCGCCCTGCCCC[C/G]TTCCGACCTCTTAGTTCCTATCCTCCAGCA 18378515 chr19 45438876 45439660 QPCTL S chr19_46195189_46195958_11111_3:chr19_46196617_46196764_10000_1 2 chr19 45439163 45439164 CR084697 + 3 DP rs35136575 APOC1 LDL cholesterol levels: association with CAGGCTCTGTTTTTGGGCCCGCCCTGCCCC[C/G]TTCCGACCTCTTAGTTCCTATCCTCCAGCA 18378515 chr19 45438876 45439660 VASP S chr19_46010602_46010752_10000_1 1 chr19 45439163 45439164 CR084697 + 3 DP rs35136575 APOC1 LDL cholesterol levels: association with CAGGCTCTGTTTTTGGGCCCGCCCTGCCCC[C/G]TTCCGACCTCTTAGTTCCTATCCTCCAGCA 18378515 chr19 45548800 45549400 TOMM40 S chr19_45393661_45394222_10000_2 1 . -1 -1 . -1 . . . . . . . chr19 45681070 45681693 TRAPPC6A S chr19_45427534_45427925_10000_3:chr19_45428655_45429278_10000_2 2 . -1 -1 . -1 . . . . . . . chr19 45905744 45905944 PPP1R13L F chr19_45908545_45908749_10010_1 1 . -1 -1 . -1 . . . . . . . chr19 45968349 45968608 FOSB F chr19_45970887_45971274_10111_1 1 . -1 -1 . -1 . . . . . . . chr19 45981696 45982563 21183 S chr19_45427534_45427925_10000_3:chr19_45428655_45429278_10000_2:chr19_45439151_45439359_10000_4 3 . -1 -1 . -1 . . . . . . . chr19 46009457 46011147 VASP S chr19_45414482_45414726_10000_1:chr19_45427534_45427925_10000_3:chr19_45428655_45429278_10000_2:chr19_45439151_45439359_10000_4 4 . -1 -1 . -1 . . . . . . . chr19 46011701 46012269 VASP F chr19_46010602_46010752_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 46012498 46012899 VASP F chr19_46010602_46010752_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 46014236 46014617 VASP F chr19_46010602_46010752_10000_1:chr19_46013452_46013629_10000_1 2 . -1 -1 . -1 . . . . . . . chr19 46146528 46146635 EML2 S chr19_45414482_45414726_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 46194846 46196830 QPCTL S chr19_45427534_45427925_10000_3:chr19_45428655_45429278_10000_2:chr19_45439151_45439359_10000_4 3 . -1 -1 . -1 . . . . . . . chr19 46272008 46274368 DMPK S chr19_45427534_45427925_10000_3:chr19_45428655_45429278_10000_2:chr19_45439151_45439359_10000_4 3 . -1 -1 . -1 . . . . . . . chr19 47287679 47288427 SLC1A5 S chr19_47370200_47370267_11000_1:chr19_47610645_47610798_10000_1:chr19_47856597_47856769_10000_2 3 . -1 -1 . -1 . . . . . . . chr19 47609960 47611000 CCDC9 S chr19_47759762_47759887_10000_1:chr19_47760114_47761006_10110_3 2 . -1 -1 . -1 . . . . . . . chr19 47609960 47611000 ZC3H4 S chr19_47616378_47616540_10110_1 1 . -1 -1 . -1 . . . . . . . chr19 47613231 47613789 ZC3H4 F chr19_47616378_47616540_10110_1 1 . -1 -1 . -1 . . . . . . . chr19 47613894 47614902 ZC3H4 F chr19_47616378_47616540_10110_1 1 . -1 -1 . -1 . . . . . . . chr19 47615076 47617479 ZC3H4 S chr19_47610645_47610798_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 47759327 47761153 CCDC9 S chr19_47610645_47610798_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 47812603 47814573 C5AR1 F chr19_47814193_47814396_10110_1 1 . -1 -1 . -1 . . . . . . . chr19 47814150 47814595 C5AR1 F chr19_47814193_47814396_10110_1 1 . -1 -1 . -1 . . . . . . . chr19 47854917 47855115 DHX34 F chr19_47852443_47852676_10010_1 1 . -1 -1 . -1 . . . . . . . chr19 48015987 48019015 NAPA F chr19_48015884_48016102_11000_4 1 . -1 -1 . -1 . . . . . . . chr19 48016024 48016351 NAPA F chr19_48015987_48016102_11000_4:chr19_48018218_48018373_10101_1:chr19_48018384_48018870_11111_2 3 . -1 -1 . -1 . . . . . . . chr19 48016569 48017036 NAPA F chr19_48018218_48018373_10101_1:chr19_48018384_48018870_11111_2 2 . -1 -1 . -1 . . . . . . . chr19 49465555 49466264 FTL F chr19_49465709_49465818_10001_1:chr19_49468384_49469011_11111_3 2 . -1 -1 . -1 . . . . . . . chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468350 49468351 CR095473 + 3 DM NULL FTL Cataract: bilateral TTTCCAGAATCAGCCCCAGGGCCCCAACCC[C/A]CCCAAGCCCCCATTTCACAACACGCTGGCG 19254706 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468572 49468573 CR107790 + 3 DM? NULL FTL Hyperferritinaemia-cataract syndrome AAGCCGCCCTAGCCACGTCCCCTCGCAGTT[C/G]GGCGGTCCCGCGGGTCTGTCTCTTGCTTCA 20578964 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468575 49468576 CR031001 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CCGCCCTAGCCACGTCCCCTCGCAGTTCGG[C/T]GGTCCCGCGGGTCTGTCTCTTGCTTCAACA 12670350 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468579 49468580 CR011064 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CCTAGCCACGTCCCCTCGCAGTTCGGCGGT[C/G]CCGCGGGTCTGTCTCTTGCTTCAACAGTGT 11238302 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468581 49468582 CR031002 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TAGCCACGTCCCCTCGCAGTTCGGCGGTCC[C/T]GCGGGTCTGTCTCTTGCTTCAACAGTGTTT 12670350 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468583 49468584 CR061335 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GCCACGTCCCCTCGCAGTTCGGCGGTCCCG[C/T]GGGTCTGTCTCTTGCTTCAACAGTGTTTGG 16395671 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468587 49468588 CR061334 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CGTCCCCTCGCAGTTCGGCGGTCCCGCGGG[T/G]CTGTCTCTTGCTTCAACAGTGTTTGGACGG 16395671 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468589 49468590 CR116734 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TCCCCTCGCAGTTCGGCGGTCCCGCGGGTC[T/C]GTCTCTTGCTTCAACAGTGTTTGGACGGAA 21410535 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468594 49468595 HR030029 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TCGCAGTTCGGCGGTCCCGCGGGTCTGTCT[C/G]TTGCTTCAACAGTGTTTGGACGGAACAGAT HGOL chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468597 49468598 CR023756 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CAGTTCGGCGGTCCCGCGGGTCTGTCTCTT[G/C]CTTCAACAGTGTTTGGACGGAACAGATCCG 12200611 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468597 49468598 CR971942 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CAGTTCGGCGGTCCCGCGGGTCTGTCTCTT[G/A]CTTCAACAGTGTTTGGACGGAACAGATCCG 9226182 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468597 49468598 CR982414 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CAGTTCGGCGGTCCCGCGGGTCTGTCTCTT[G/T]CTTCAACAGTGTTTGGACGGAACAGATCCG 9414300 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468598 49468599 CR032432 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome AGTTCGGCGGTCCCGCGGGTCTGTCTCTTG[C/A]TTCAACAGTGTTTGGACGGAACAGATCCGG 12730114 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468598 49468599 CR993997 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome AGTTCGGCGGTCCCGCGGGTCTGTCTCTTG[C/T]TTCAACAGTGTTTGGACGGAACAGATCCGG 10383191 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468599 49468600 CR032433 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GTTCGGCGGTCCCGCGGGTCTGTCTCTTGC[T/C]TCAACAGTGTTTGGACGGAACAGATCCGGG 12730114 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468601 49468602 CR031003 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TCGGCGGTCCCGCGGGTCTGTCTCTTGCTT[C/G]AACAGTGTTTGGACGGAACAGATCCGGGGA 12670350 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468601 49468602 CR138623 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TCGGCGGTCCCGCGGGTCTGTCTCTTGCTT[C/T]AACAGTGTTTGGACGGAACAGATCCGGGGA 23421845 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468601 49468602 CR971943 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TCGGCGGTCCCGCGGGTCTGTCTCTTGCTT[C/A]AACAGTGTTTGGACGGAACAGATCCGGGGA 9414313 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468602 49468603 CR031004 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CGGCGGTCCCGCGGGTCTGTCTCTTGCTTC[A/G]ACAGTGTTTGGACGGAACAGATCCGGGGAC 12670350 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468602 49468603 CR061332 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CGGCGGTCCCGCGGGTCTGTCTCTTGCTTC[A/C]ACAGTGTTTGGACGGAACAGATCCGGGGAC 16395671 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468602 49468603 CR061333 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CGGCGGTCCCGCGGGTCTGTCTCTTGCTTC[A/T]ACAGTGTTTGGACGGAACAGATCCGGGGAC 16395671 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468604 49468605 CR022280 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GCGGTCCCGCGGGTCTGTCTCTTGCTTCAA[C/A]AGTGTTTGGACGGAACAGATCCGGGGACTC 12199804 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468604 49468605 CR043893 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GCGGTCCCGCGGGTCTGTCTCTTGCTTCAA[C/G]AGTGTTTGGACGGAACAGATCCGGGGACTC 15234655 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468604 49468605 CR971944 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GCGGTCCCGCGGGTCTGTCTCTTGCTTCAA[C/T]AGTGTTTGGACGGAACAGATCCGGGGACTC 9414313 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468605 49468606 CR951551 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CGGTCCCGCGGGTCTGTCTCTTGCTTCAAC[A/G]GTGTTTGGACGGAACAGATCCGGGGACTCT 7493028 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468606 49468607 CR951552 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GGTCCCGCGGGTCTGTCTCTTGCTTCAACA[G/C]TGTTTGGACGGAACAGATCCGGGGACTCTC 7492760 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468608 49468609 CR051708 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TCCCGCGGGTCTGTCTCTTGCTTCAACAGT[G/A]TTTGGACGGAACAGATCCGGGGACTCTCTT 15690351 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468611 49468612 CR098064 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CGCGGGTCTGTCTCTTGCTTCAACAGTGTT[T/G]GGACGGAACAGATCCGGGGACTCTCTTCCA 19887780 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468612 49468613 CR032434 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GCGGGTCTGTCTCTTGCTTCAACAGTGTTT[G/A]GACGGAACAGATCCGGGGACTCTCTTCCAG 12730114 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468614 49468615 CR107791 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GGGTCTGTCTCTTGCTTCAACAGTGTTTGG[A/C]CGGAACAGATCCGGGGACTCTCTTCCAGCC 20578964 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468615 49468616 CR085179 + 3 DM NULL FTL Hyperferritinaemia GGTCTGTCTCTTGCTTCAACAGTGTTTGGA[C/A]GGAACAGATCCGGGGACTCTCTTCCAGCCT 18710380 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468616 49468617 CR003496 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GTCTGTCTCTTGCTTCAACAGTGTTTGGAC[G/C]GAACAGATCCGGGGACTCTCTTCCAGCCTC 10759702 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468617 49468618 CR138624 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TCTGTCTCTTGCTTCAACAGTGTTTGGACG[G/C]AACAGATCCGGGGACTCTCTTCCAGCCTCC 23421845 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468621 49468622 CR061336 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TCTCTTGCTTCAACAGTGTTTGGACGGAAC[A/T]GATCCGGGGACTCTCTTCCAGCCTCCGACC 16395671 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468655 49468656 CR031005 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CCGGGGACTCTCTTCCAGCCTCCGACCGCC[C/T]TCCGATTTCCTCTCCGCTTGCAACCTCCGG 12670350 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468765 49468766 CM041345 + 1 DM rs139732572 FTL L-ferritin deficiency ttgtggttagctccttcttgccaaccaacc[A/G]TGAGCTCCCAGATTCGTCAGAATTATTCCA 15173247 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468841 49468842 CM124942 + 1 DM NULL FTL Hyperferritinaemia CCGTCAACAGCCTGGTCAATTTGTACCTGC[A/T]GGCCTCCTACACCTACCTCTCTCTGgtgag 22535864 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468844 49468845 CM124941 + 1 DM NULL FTL Hyperferritinaemia TCAACAGCCTGGTCAATTTGTACCTGCAGG[C/T]CTCCTACACCTACCTCTCTCTGgtgagtcc 22535864 chr19 49465709 49469066 FTL F chr19_49465708_49465818_10001_1 1 chr19 49468853 49468854 CM091262 + 1 DM NULL FTL Hyperferritinaemia TGGTCAATTTGTACCTGCAGGCCTCCTACA[C/T]CTACCTCTCTCTGgtgagtccccaggacgc 19176363 chr19 49466802 49467527 FTL F chr19_49468384_49469011_11111_3 1 . -1 -1 . -1 . . . . . . . chr19 50141205 50141513 RRAS F chr19_50143580_50143804_10010_2 1 . -1 -1 . -1 . . . . . . . chr19 51865359 51866600 NKG7 S chr19_51868856_51868967_11000_1:chr19_51869685_51870003_11010_3:chr19_51870892_51871076_11000_1 3 . -1 -1 . -1 . . . . . . . chr19 51868505 51871836 NKG7 S chr19_51865936_51866297_10000_4 1 chr19 51869526 51869527 CM081235 - 1 DM NULL ETFB Glutaricacidaemia 2b GCTGTCAAGAGGGTCATCGACTACGCCGTG[A/T]AGgtgatcgggcccccctctcccacatccc 18289905 chr19 51868505 51871836 NKG7 S chr19_51865936_51866297_10000_4 1 chr19 51869532 51869533 CM088127 - 1 DM? NULL ETFB Glutaricacidaemia 2 CTCGTAGCTGTCAAGAGGGTCATCGACTAC[G/C]CCGTGAAGgtgatcgggcccccctctccca 17977044 chr19 52263952 52267907 FPR2 F chr19_52267961_52268143_10000_1 1 chr19 52264213 52264214 CR119914 + 3 FP NULL FPR2 Reduced promoter activity GAAGGAAGGGCTGGACATTCAGATTCCTTG[A/G]CCCTTGACATTTGGAAGCATGAACTCCAGT 22131270 chr19 52266141 52267907 FPR2 F chr19_52267961_52268143_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 52269692 52270063 FPR2 F chr19_52267961_52268143_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 52641935 52642117 ZNF616 F chr19_52643065_52643506_10000_2 1 . -1 -1 . -1 . . . . . . . chr19 53237186 53237523 ZNF611 F chr19_53238287_53238447_10000_1:chr19_53238287_53238447_10000_1 2 . -1 -1 . -1 . . . . . . . chr19 54373735 54373974 MYADM F chr19_54372865_54373035_10111_1:chr19_54372865_54373035_10111_1:chr19_54372865_54373035_10111_1 3 . -1 -1 . -1 . . . . . . . chr19 54712400 54712600 ENSG00000224579 S chr19_54713727_54714144_00000_3 1 . -1 -1 . -1 . . . . . . . chr19 55626810 55627228 PPP1R12C F chr19_55629055_55629283_10111_1 1 . -1 -1 . -1 . . . . . . . chr19 55627475 55627790 PPP1R12C F chr19_55629055_55629283_10111_1 1 . -1 -1 . -1 . . . . . . . chr19 55850112 55851721 SUV420H2 F chr19_55850135_55850640_11000_2 1 . -1 -1 . -1 . . . . . . . chr19 55850120 55850505 SUV420H2 F chr19_55850135_55850640_11000_2:chr19_55850969_55851184_11111_1 2 . -1 -1 . -1 . . . . . . . chr19 56616762 56617200 ZNF444 S chr19_56651984_56652675_11111_2:chr19_56653533_56653981_11111_3 2 . -1 -1 . -1 . . . . . . . chr19 56651854 56654097 ZNF444 S chr19_56616762_56616888_10000_3 1 . -1 -1 . -1 . . . . . . . chr19 57349390 57352594 PEG3 F chr19_57349509_57349745_10100_1 1 . -1 -1 . -1 . . . . . . . chr19 57349390 57352597 ZIM2 F chr19_57349509_57349745_10100_1 1 . -1 -1 . -1 . . . . . . . chr19 57349423 57349757 PEG3 F chr19_57349509_57349745_10100_1:chr19_57350837_57351077_11000_1 2 . -1 -1 . -1 . . . . . . . chr19 57349423 57349757 ZIM2 F chr19_57349509_57349745_10100_1:chr19_57350837_57351077_11000_1 2 . -1 -1 . -1 . . . . . . . chr19 57351079 57352594 PEG3 F chr19_57350844_57351077_11000_1 1 . -1 -1 . -1 . . . . . . . chr19 57351079 57352597 ZIM2 F chr19_57350844_57351077_11000_1 1 . -1 -1 . -1 . . . . . . . chr19 57392200 57392595 ZNF444 S chr19_56651984_56652675_11111_2:chr19_56653533_56653981_11111_3 2 . -1 -1 . -1 . . . . . . . chr19 57411585 57412400 ZNF444 S chr19_56651984_56652675_11111_2:chr19_56653533_56653981_11111_3 2 . -1 -1 . -1 . . . . . . . chr19 57411585 57412400 ZNF787 S chr19_56631742_56632016_10000_1:chr19_56632555_56633088_10010_1 2 . -1 -1 . -1 . . . . . . . chr19 57486000 57487494 PEG3 S chr19_57349509_57349745_10100_1:chr19_57350837_57351077_11000_1 2 . -1 -1 . -1 . . . . . . . chr19 57486000 57487494 ZNF256 S chr19_58459053_58459272_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 57486000 57487494 ZNF444 S chr19_56651984_56652675_11111_2:chr19_56653533_56653981_11111_3 2 . -1 -1 . -1 . . . . . . . chr19 57486000 57487494 ZNF547 S chr19_57874645_57874787_10000_3 1 . -1 -1 . -1 . . . . . . . chr19 57486000 57487494 ZNF787 S chr19_56631742_56632016_10000_1:chr19_56632555_56633088_10010_1 2 . -1 -1 . -1 . . . . . . . chr19 57489240 57489890 ZNF256 S chr19_58459053_58459272_10000_1 1 . -1 -1 . -1 . . . . . . . chr19 57489240 57489890 ZNF444 S chr19_56651984_56652675_11111_2:chr19_56653533_56653981_11111_3 2 . -1 -1 . -1 . . . . . . . chr20 277809 279518 ZCCHC3 S chr20_491229_491379_11000_2:chr20_491471_491518_11000_2:chr20_627031_627179_10000_1 3 . -1 -1 . -1 . . . . . . . chr20 304664 308676 SOX12 S chr20_491229_491379_11000_2:chr20_491471_491518_11000_2:chr20_627031_627179_10000_1 3 . -1 -1 . -1 . . . . . . . chr20 309251 309351 SOX12 S chr20_491229_491379_11000_2:chr20_491471_491518_11000_2:chr20_627031_627179_10000_1 3 . -1 -1 . -1 . . . . . . . chr20 309491 309639 SOX12 S chr20_491229_491379_11000_2:chr20_491471_491518_11000_2:chr20_627031_627179_10000_1 3 . -1 -1 . -1 . . . . . . . chr20 309756 309923 SOX12 S chr20_491229_491379_11000_2:chr20_491471_491518_11000_2:chr20_627031_627179_10000_1 3 . -1 -1 . -1 . . . . . . . chr20 310045 310200 SOX12 S chr20_491229_491379_11000_2:chr20_491471_491518_11000_2:chr20_627031_627179_10000_1 3 . -1 -1 . -1 . . . . . . . chr20 327119 329269 NRSN2 S chr20_491229_491379_11000_2:chr20_491471_491518_11000_2:chr20_627031_627179_10000_1 3 . -1 -1 . -1 . . . . . . . chr20 342871 343572 ENSG00000172070 S chr20_633988_634311_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 342871 343572 SDCBP2 S chr20_1308814_1309062_10000_1:chr20_1309794_1310000_11000_2 2 . -1 -1 . -1 . . . . . . . chr20 342871 343572 TBC1D20 S chr20_442177_442452_10100_1:chr20_443253_443362_10101_2 2 . -1 -1 . -1 . . . . . . . chr20 342871 343572 TRIB3 S chr20_361557_361700_11101_3:chr20_362479_362623_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 360988 363155 TRIB3 S chr20_343122_343485_10101_3:chr20_377373_377681_11100_3:chr20_382584_382884_10000_3:chr20_491229_491379_11000_2:chr20_491471_491518_11000_2:chr20_627031_627179_10000_1 6 . -1 -1 . -1 . . . . . . . chr20 376672 378400 TBC1D20 S chr20_442177_442452_10100_1:chr20_443253_443362_10101_2 2 . -1 -1 . -1 . . . . . . . chr20 376672 378400 TRIB3 S chr20_361557_361700_11101_3:chr20_362479_362623_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 381600 383800 TBC1D20 S chr20_442177_442452_10100_1:chr20_443253_443362_10101_2 2 . -1 -1 . -1 . . . . . . . chr20 381600 383800 TRIB3 S chr20_361557_361700_11101_3:chr20_362479_362623_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 387678 390086 RBCK1 S chr20_627031_627179_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 442118 443471 TBC1D20 S chr20_343122_343485_10101_3:chr20_377373_377681_11100_3:chr20_382584_382884_10000_3:chr20_489092_489228_11100_2:chr20_491229_491379_11000_2:chr20_491471_491518_11000_2:chr20_627031_627179_10000_1 7 . -1 -1 . -1 . . . . . . . chr20 488902 489600 TBC1D20 S chr20_442177_442452_10100_1:chr20_443253_443362_10101_2 2 . -1 -1 . -1 . . . . . . . chr20 490282 490430 TBC1D20 S chr20_442177_442452_10100_1:chr20_443253_443362_10101_2 2 . -1 -1 . -1 . . . . . . . chr20 490852 491379 ENSG00000172070 S chr20_633988_634311_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 490852 491379 NSFL1C S chr20_1447483_1447635_11000_1 1 . -1 -1 . -1 . . . . . . . chr20 490852 491379 SDCBP2 S chr20_1308814_1309062_10000_1:chr20_1309794_1310000_11000_2 2 . -1 -1 . -1 . . . . . . . chr20 490852 491379 SOX12 S chr20_306006_306186_11101_1 1 . -1 -1 . -1 . . . . . . . chr20 490852 491379 TBC1D20 S chr20_442177_442452_10100_1:chr20_443253_443362_10101_2 2 . -1 -1 . -1 . . . . . . . chr20 490852 491379 TRIB3 S chr20_361557_361700_11101_3:chr20_362479_362623_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 490852 491379 ZCCHC3 S chr20_277809_278236_11000_2:chr20_279241_279446_11001_2 2 . -1 -1 . -1 . . . . . . . chr20 491471 491800 ENSG00000172070 S chr20_633988_634311_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 491471 491800 FKBP1A S chr20_1373677_1373956_11101_1 1 . -1 -1 . -1 . . . . . . . chr20 491471 491800 NSFL1C S chr20_1447483_1447635_11000_1 1 . -1 -1 . -1 . . . . . . . chr20 491471 491800 SDCBP2 S chr20_1308814_1309062_10000_1:chr20_1309794_1310000_11000_2 2 . -1 -1 . -1 . . . . . . . chr20 491471 491800 SOX12 S chr20_306006_306186_11101_1 1 . -1 -1 . -1 . . . . . . . chr20 491471 491800 TBC1D20 S chr20_442177_442452_10100_1:chr20_443253_443362_10101_2 2 . -1 -1 . -1 . . . . . . . chr20 491471 491800 TRIB3 S chr20_361557_361700_11101_3:chr20_362479_362623_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 491471 491800 ZCCHC3 S chr20_277809_278236_11000_2:chr20_279241_279446_11001_2 2 . -1 -1 . -1 . . . . . . . chr20 626800 627600 NSFL1C S chr20_1447483_1447635_11000_1 1 . -1 -1 . -1 . . . . . . . chr20 626800 627600 RBCK1 S chr20_388126_388304_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 626800 627600 SOX12 S chr20_306006_306186_11101_1 1 . -1 -1 . -1 . . . . . . . chr20 626800 627600 TBC1D20 S chr20_442177_442452_10100_1:chr20_443253_443362_10101_2 2 . -1 -1 . -1 . . . . . . . chr20 626800 627600 TRIB3 S chr20_361557_361700_11101_3:chr20_362479_362623_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 626800 627600 ZCCHC3 S chr20_277809_278236_11000_2:chr20_279241_279446_11001_2 2 . -1 -1 . -1 . . . . . . . chr20 632374 632531 ENSG00000172070 S chr20_491229_491379_11000_2:chr20_491471_491518_11000_2 2 . -1 -1 . -1 . . . . . . . chr20 632851 634772 ENSG00000172070 S chr20_343122_343485_10101_3:chr20_491229_491379_11000_2:chr20_491471_491518_11000_2 3 . -1 -1 . -1 . . . . . . . chr20 1307333 1310000 SDCBP2 S chr20_343122_343485_10101_3:chr20_491229_491379_11000_2:chr20_491471_491518_11000_2 3 . -1 -1 . -1 . . . . . . . chr20 1307828 1308261 SDCBP2 F chr20_1306309_1306715_11000_4 1 . -1 -1 . -1 . . . . . . . chr20 1309378 1311244 SDCBP2 F chr20_1310863_1310964_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 1310858 1311228 SDCBP2 F chr20_1309794_1310016_11000_2:chr20_1310276_1310499_10000_1:chr20_1310863_1310964_10000_1 3 . -1 -1 . -1 . . . . . . . chr20 1372505 1372631 FKBP1A S chr20_491229_491379_11000_2 1 . -1 -1 . -1 . . . . . . . chr20 1372925 1374082 FKBP1A S chr20_491471_491518_11000_2 1 . -1 -1 . -1 . . . . . . . chr20 1446743 1448325 NSFL1C S chr20_491229_491379_11000_2:chr20_491471_491518_11000_2:chr20_627031_627179_10000_1 3 . -1 -1 . -1 . . . . . . . chr20 1874312 1877428 SIRPA F chr20_1876633_1876755_10000_2 1 . -1 -1 . -1 . . . . . . . chr20 1874924 1877428 SIRPA F chr20_1876633_1876755_10000_2 1 . -1 -1 . -1 . . . . . . . chr20 1875325 1877428 SIRPA F chr20_1876633_1876755_10000_2 1 . -1 -1 . -1 . . . . . . . chr20 1876933 1877521 SIRPA F chr20_1874988_1875149_11001_3:chr20_1874988_1875149_11001_3:chr20_1876276_1876755_10000_2:chr20_1876276_1876755_10000_2:chr20_1876276_1876755_10000_2 5 . -1 -1 . -1 . . . . . . . chr20 1878572 1879041 SIRPA F chr20_1874988_1875149_11001_3:chr20_1874988_1875149_11001_3:chr20_1876276_1876755_10000_2:chr20_1876276_1876755_10000_2:chr20_1876276_1876755_10000_2 5 . -1 -1 . -1 . . . . . . . chr20 2927566 2928800 AP5S1 S chr20_3801403_3801549_11101_1 1 . -1 -1 . -1 . . . . . . . chr20 3083394 3085207 AP5S1 S chr20_3801403_3801549_11101_1 1 . -1 -1 . -1 . . . . . . . chr20 3083394 3085207 ITPA S chr20_3185208_3185462_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 3083394 3085207 PANK2 S chr20_3869432_3870019_11101_2 1 . -1 -1 . -1 . . . . . . . chr20 3083394 3085207 SNRPB S chr20_2451505_2451701_11100_2 1 . -1 -1 . -1 . . . . . . . chr20 3139560 3140815 UBOX5 S chr20_2928145_2928384_11001_3 1 . -1 -1 . -1 . . . . . . . chr20 3199000 3199684 SMOX S chr20_4152217_4152356_10000_1:chr20_4152906_4153019_10001_1 2 chr20 3199233 3199234 CI075647 + 6 DM? NULL ITPA ITPase deficiency TATGCGCTCTGCACGTTTGCACTCAGCACC[-/TCAGCACC]GGGGACCCAAGCCAGCCCGTGCGCCTGTTC 17304144 chr20 3203043 3206389 ITPA S chr20_3185208_3185462_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 3203043 3206389 PANK2 S chr20_3869432_3870019_11101_2 1 . -1 -1 . -1 . . . . . . . chr20 3203043 3206389 SMOX S chr20_4152217_4152356_10000_1:chr20_4152906_4153019_10001_1 2 . -1 -1 . -1 . . . . . . . chr20 3203043 3206389 SNRPB S chr20_2451505_2451701_11100_2 1 . -1 -1 . -1 . . . . . . . chr20 3779808 3780100 CDC25B F chr20_3778797_3779080_10000_2 1 . -1 -1 . -1 . . . . . . . chr20 3800512 3801878 AP5S1 S chr20_2928145_2928384_11001_3 1 . -1 -1 . -1 . . . . . . . chr20 3993168 3993585 RNF24 F chr20_3996272_3996404_11000_2:chr20_3996272_3996404_11000_2 2 . -1 -1 . -1 . . . . . . . chr20 4152031 4153361 SMOX S chr20_4947653_4948404_11000_4:chr20_5130851_5131640_11001_4:chr20_5137392_5137670_10000_1 3 . -1 -1 . -1 . . . . . . . chr20 4947228 4949000 SMOX S chr20_4152217_4152356_10000_1:chr20_4152906_4153019_10001_1 2 . -1 -1 . -1 . . . . . . . chr20 5093044 5094326 TMEM230 S chr20_5130851_5131640_11001_4:chr20_5153641_5154000_11100_4 2 . -1 -1 . -1 . . . . . . . chr20 5099581 5101140 PCNA S chr20_5153641_5154000_11100_4 1 . -1 -1 . -1 . . . . . . . chr20 5106906 5108626 CDS2 S chr20_5130851_5131640_11001_4:chr20_5153641_5154000_11100_4 2 . -1 -1 . -1 . . . . . . . chr20 5130343 5131812 CDS2 S chr20_5107017_5107835_11101_2 1 . -1 -1 . -1 . . . . . . . chr20 5130343 5131812 GPCPD1 S chr20_5591450_5591970_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 5130343 5131812 SMOX S chr20_4152217_4152356_10000_1:chr20_4152906_4153019_10001_1 2 . -1 -1 . -1 . . . . . . . chr20 5137043 5137769 SMOX S chr20_4152217_4152356_10000_1:chr20_4152906_4153019_10001_1 2 . -1 -1 . -1 . . . . . . . chr20 5153400 5154000 CDS2 S chr20_5107017_5107835_11101_2 1 . -1 -1 . -1 . . . . . . . chr20 5153400 5154000 GPCPD1 S chr20_5591450_5591970_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 5153400 5154000 PCNA S chr20_5100603_5100857_10101_1 1 . -1 -1 . -1 . . . . . . . chr20 5588948 5589498 GPCPD1 F chr20_5591450_5591970_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 5589880 5590681 GPCPD1 F chr20_5591450_5591970_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 5590579 5592024 GPCPD1 S chr20_5130851_5131640_11001_4:chr20_5153641_5154000_11100_4 2 . -1 -1 . -1 . . . . . . . chr20 5927973 5928389 TRMT6 F chr20_5931143_5931312_11101_1 1 . -1 -1 . -1 . . . . . . . chr20 10197196 10197344 SNAP25 F chr20_10197846_10197972_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 10410000 10411107 JAG1 S chr20_10652328_10652472_10101_1 1 . -1 -1 . -1 . . . . . . . chr20 10413949 10416478 MKKS S chr20_10585289_10585451_11100_3 1 . -1 -1 . -1 . . . . . . . chr20 10584472 10585616 JAG1 S chr20_10652328_10652472_10101_1 1 . -1 -1 . -1 . . . . . . . chr20 10584472 10585616 MKKS S chr20_10415795_10415992_10101_1 1 . -1 -1 . -1 . . . . . . . chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653347 10653348 HS080020 - 2 DM NULL JAG1 Alagille syndrome TCGTGCTGCCTTTCAGTTTCGCCTGGCCGg[T/C]gagtgactactcgggaaggaggccgggcgg HGOL chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653348 10653349 CS062063 - 2 DM NULL JAG1 Alagille syndrome ATCGTGCTGCCTTTCAGTTTCGCCTGGCCG[G/A]tgagtgactactcgggaaggaggccgggcg 16575836 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653350 10653351 CM993740 - 1 DM NULL JAG1 Alagille syndrome GCATCGTGCTGCCTTTCAGTTTCGCCTGGC[C/G]Ggtgagtgactactcgggaaggaggccggg 10220506 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653353 10653354 CM030050 - 1 DM NULL JAG1 Alagille syndrome ACCGCATCGTGCTGCCTTTCAGTTTCGCCT[G/A]GCCGgtgagtgactactcgggaaggaggcc 12497640 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653357 10653358 CM993739 - 1 DM NULL JAG1 Alagille syndrome CGCAACCGCATCGTGCTGCCTTTCAGTTTC[G/A]CCTGGCCGgtgagtgactactcgggaagga 10220506 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653358 10653359 CD030141 - 5 DM NULL JAG1 Alagille syndrome CCGCAACCGCATCGTGCTGCCTTTCAGTTT[C/-]GCCTGGCCGGTGAGTGACTACTCGGGAAGG 12497640 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653365 10653366 HI080021 - 6 DM NULL JAG1 Alagille syndrome GCAACGACCGCAACCGCATCGTGCTGCCTT[-/CT]TCAGTTTCGCCTGGCCGGTGAGTGACTACT HGOL chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653369 10653370 CM030049 - 1 DM NULL JAG1 Alagille syndrome CGCGGCAACGACCGCAACCGCATCGTGCTG[C/T]CTTTCAGTTTCGCCTGGCCGgtgagtgact 12497640 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653371 10653372 HM080056 - 1 DM NULL JAG1 Alagille syndrome GCCGCGGCAACGACCGCAACCGCATCGTGC[T/C]GCCTTTCAGTTTCGCCTGGCCGgtgagtga HGOL chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653377 10653378 CM051088 - 1 DM NULL JAG1 Alagille syndrome AGGCCAGCCGCGGCAACGACCGCAACCGCA[T/A]CGTGCTGCCTTTCAGTTTCGCCTGGCCGgt 15712272 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653398 10653399 CI123126 - 6 DM NULL JAG1 Alagille syndrome GGGGCAACACCTTCAACCTCAAGGCCAGCC[-/C]GCGGCAACGACCGCAACCGCATCGTGCTGC 22488849 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653439 10653445 CD062195 - 5 DM NULL JAG1 Alagille syndrome GGCCGGGGGGCCCTGCAGCTTCGGCTCAGG[GTCCACG/-]CCTGTCATCGGGGGCAACACCTTCAACCTC 16575836 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653445 10653446 CD062194 - 5 DM NULL JAG1 Alagille syndrome GGCCGGGGGGCCCTGCAGCTTCGGCTCAGG[G/-]TCCACGCCTGTCATCGGGGGCAACACCTTC 16575836 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653449 10653450 CM061810 - 1 DM NULL JAG1 Alagille syndrome TCACGGCCGGGGGGCCCTGCAGCTTCGGCT[C/A]AGGGTCCACGCCTGTCATCGGGGGCAACAC 16575836 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653461 10653462 CM061815 - 1 DM NULL JAG1 Alagille syndrome ATCAGTCCCGCGTCACGGCCGGGGGGCCCT[G/A]CAGCTTCGGCTCAGGGTCCACGCCTGTCAT 16575836 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653462 10653463 CM061805 - 1 DM NULL JAG1 Alagille syndrome TATCAGTCCCGCGTCACGGCCGGGGGGCCC[T/C]GCAGCTTCGGCTCAGGGTCCACGCCTGTCA 16575836 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653465 10653466 CI983121 - 6 DM NULL JAG1 Alagille syndrome GAGTATCAGTCCCGCGTCACGGCCGGGGGG[-/G]CCCTGCAGCTTCGGCTCAGGGTCCACGCCT 9585603 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653466 10653467 CD062180 - 5 DM NULL JAG1 Alagille syndrome GGAGTATCAGTCCCGCGTCACGGCCGGGGG[G/-]CCCTGCAGCTTCGGCTCAGGGTCCACGCCT 16575836 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653466 10653470 CX062302 - 4 DM NULL JAG1 Alagille syndrome TCAAGGAGTATCAGTCCCGCGTCACGGCCG[GGGGG/CTT]CCCTGCAGCTTCGGCTCAGGGTCCACGCCT 16575836 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653495 10653496 CM016138 - 1 DM NULL JAG1 Alagille syndrome TGTGACACATACTTCAAAGTGTGCCTCAAG[G/T]AGTATCAGTCCCGCGTCACGGCCGGGGGGC 11359464 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653500 10653501 CM993738 - 1 DM NULL JAG1 Alagille syndrome ACGAGTGTGACACATACTTCAAAGTGTGCC[T/A]CAAGGAGTATCAGTCCCGCGTCACGGCCGG 10220506 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653501 10653502 CM102869 - 1 DM NULL JAG1 Alagille syndrome GACGAGTGTGACACATACTTCAAAGTGTGC[C/T]TCAAGGAGTATCAGTCCCGCGTCACGGCCG 20437613 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653503 10653504 CM003438 - 1 DM NULL JAG1 Alagille syndrome GCGACGAGTGTGACACATACTTCAAAGTGT[G/C]CCTCAAGGAGTATCAGTCCCGCGTCACGGC 11180599 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653503 10653504 CM016139 - 1 DM NULL JAG1 Alagille syndrome GCGACGAGTGTGACACATACTTCAAAGTGT[G/A]CCTCAAGGAGTATCAGTCCCGCGTCACGGC 11359464 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653504 10653505 CM123124 - 1 DM NULL JAG1 Alagille syndrome CGCGACGAGTGTGACACATACTTCAAAGTG[T/G]GCCTCAAGGAGTATCAGTCCCGCGTCACGG 22488849 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653504 10653505 CM124891 - 1 DM NULL JAG1 Alagille syndrome CGCGACGAGTGTGACACATACTTCAAAGTG[T/C]GCCTCAAGGAGTATCAGTCCCGCGTCACGG 21752016 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653511 10653512 CM124890 - 1 DM NULL JAG1 Alagille syndrome GTGCACCCGCGACGAGTGTGACACATACTT[C/A]AAAGTGTGCCTCAAGGAGTATCAGTCCCGC 21752016 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653511 10653525 CD003520 - 5 DM NULL JAG1 Alagille syndrome CCGGGAGACCGCAAGTGCACCCGCGACGAG[TGTGACACATACTTC/-]AAAGTGTGCCTCAAGGAGTATCAGTCCCGC 11180599 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653512 10653513 CM030048 - 1 DM NULL JAG1 Alagille syndrome AGTGCACCCGCGACGAGTGTGACACATACT[T/C]CAAAGTGTGCCTCAAGGAGTATCAGTCCCG 12497640 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653524 10653525 CI124920 - 6 DM NULL JAG1 Alagille syndrome CGGGAGACCGCAAGTGCACCCGCGACGAGT[-/T]GTGACACATACTTCAAAGTGTGCCTCAAGG 21752016 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653542 10653543 CM023737 - 1 DM NULL JAG1 Biliary atresia: extrahepatic GCGGCGGCGCCCGGAACCCGGGAGACCGCA[A/T]GTGCACCCGCGACGAGTGTGACACATACTT 12297837 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653558 10653564 CD051313 - 5 DM NULL JAG1 Alagille syndrome GAGCTGCAGAACGGGAACTGCTGCGGCGGC[GCCCGGA/-]ACCCGGGAGACCGCAAGTGCACCCGCGACG 15712272 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653571 10653572 CM061819 - 1 DM NULL JAG1 Alagille syndrome GAACGGGGAGCTGCAGAACGGGAACTGCTG[C/A]GGCGGCGCCCGGAACCCGGGAGACCGCAAG 16575836 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653574 10653575 CX016172 - 4 DM NULL JAG1 Alagille syndrome ACGTGAACGGGGAGCTGCAGAACGGGAACT[GC/AA]TGCGGCGGCGCCCGGAACCCGGGAGACCGC 11359464 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653579 10653580 CM023736 - 1 DM NULL JAG1 Biliary atresia: extrahepatic CAGAACGTGAACGGGGAGCTGCAGAACGGG[A/G]ACTGCTGCGGCGGCGCCCGGAACCCGGGAG 12297837 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653584 10653597 CD062186 - 5 DM NULL JAG1 Alagille syndrome TTGGAGATCCTGTCCATGCAGAACGTGAAC[GGGGAGCTGCAGAA/-]CGGGAACTGCTGCGGCGGCGCCCGGAACCC 16575836 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653588 10653589 CM003437 - 1 DM NULL JAG1 Alagille syndrome CTGTCCATGCAGAACGTGAACGGGGAGCTG[C/T]AGAACGGGAACTGCTGCGGCGGCGCCCGGA 11180599 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653590 10653591 CD993774 - 5 DM NULL JAG1 Alagille syndrome TCCTGTCCATGCAGAACGTGAACGGGGAGC[T/-]GCAGAACGGGAACTGCTGCGGCGGCGCCCG 10220506 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653594 10653595 CM003146 - 1 DM NULL JAG1 Alagille syndrome GAGATCCTGTCCATGCAGAACGTGAACGGG[G/T]AGCTGCAGAACGGGAACTGCTGCGGCGGCG 11139247 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653603 10653604 CM023735 - 1 DM rs183974372 JAG1 Biliary atresia: extrahepatic TTCGAGTTGGAGATCCTGTCCATGCAGAAC[G/T]TGAACGGGGAGCTGCAGAACGGGAACTGCT 12297837 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653609 10653610 CM003436 - 1 DM NULL JAG1 Alagille syndrome GGTCAGTTCGAGTTGGAGATCCTGTCCATG[C/T]AGAACGTGAACGGGGAGCTGCAGAACGGGA 11180599 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653617 10653618 CM030047 - 1 DM NULL JAG1 Alagille syndrome GGGCCTCGGGTCAGTTCGAGTTGGAGATCC[T/C]GTCCATGCAGAACGTGAACGGGGAGCTGCA 12497640 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653620 10653621 CM023393 - 1 DM NULL JAG1 Alagille syndrome GTGGGGCCTCGGGTCAGTTCGAGTTGGAGA[T/G]CCTGTCCATGCAGAACGTGAACGGGGAGCT 12442286 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653626 10653627 CM003435 - 1 DM rs121918352 JAG1 Alagille syndrome agGTGTGTGGGGCCTCGGGTCAGTTCGAGT[T/C]GGAGATCCTGTCCATGCAGAACGTGAACGG 11180599 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653637 10653638 CI016171 - 6 DM NULL JAG1 Alagille syndrome CCCTCGCCGGCAGGTGTGTGGGGCCTCGGG[-/G]TCAGTTCGAGTTGGAGATCCTGTCCATGCA 11359464 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653638 10653639 CM003434 - 1 DM NULL JAG1 Alagille syndrome tccctcgccggcagGTGTGTGGGGCCTCGG[G/A]TCAGTTCGAGTTGGAGATCCTGTCCATGCA 11180599 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653638 10653639 CM061808 - 1 DM NULL JAG1 Alagille syndrome tccctcgccggcagGTGTGTGGGGCCTCGG[G/T]TCAGTTCGAGTTGGAGATCCTGTCCATGCA 16575836 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653639 10653640 CM061807 - 1 DM NULL JAG1 Alagille syndrome ttccctcgccggcagGTGTGTGGGGCCTCG[G/A]GTCAGTTCGAGTTGGAGATCCTGTCCATGC 16575836 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653644 10653645 CM030046 - 1 DM NULL JAG1 Alagille syndrome cctccttccctcgccggcagGTGTGTGGGG[C/T]CTCGGGTCAGTTCGAGTTGGAGATCCTGTC 12497640 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653652 10653653 CD030140 - 5 DM NULL JAG1 Alagille syndrome CTGACCTACCTCCTTCCCTCGCCGGCAGGT[G/-]TGTGGGGCCTCGGGTCAGTTCGAGTTGGAG 12497640 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10653656 10653657 CS030119 - 2 DM NULL JAG1 Alagille syndrome cgcgctgacctacctccttccctcgccggc[A/G]gGTGTGTGGGGCCTCGGGTCAGTTCGAGTT 12497640 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10654095 10654106 CD003095 - 5 DM NULL JAG1 Alagille syndrome AGCCTCCTGCTCGCCCTGCTCTGTGCCCTG[CGAGCCAAGGTA/-]GGAGCCCTTCTCCGGGCCTCCCTCCCAGCC 11058898 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10654097 10654098 CS062062 - 2 DM NULL JAG1 Alagille syndrome CTCGCCCTGCTCTGTGCCCTGCGAGCCAAG[G/A]taggagcccttctccgggcctccctcccag 16575836 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10654105 10654116 CD062191 - 5 DM NULL JAG1 Alagille syndrome GCGCCCCCTAAGCCTCCTGCTCGCCCTGCT[CTGTGCCCTGCG/-]AGCCAAGGTAGGAGCCCTTCTCCGGGCCTC 16575836 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10654106 10654107 CM993737 - 1 DM NULL JAG1 Alagille syndrome AGCCTCCTGCTCGCCCTGCTCTGTGCCCTG[C/T]GAGCCAAGgtaggagcccttctccgggcct 10220506 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10654109 10654110 CD003519 - 5 DM NULL JAG1 Alagille syndrome CTAAGCCTCCTGCTCGCCCTGCTCTGTGCC[C/-]TGCGAGCCAAGGTAGGAGCCCTTCTCCGGG 11180599 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10654112 10654113 CD003518 - 5 DM NULL JAG1 Alagille syndrome CCCCCTAAGCCTCCTGCTCGCCCTGCTCTG[TG/-]CCCTGCGAGCCAAGGTAGGAGCCCTTCTCC 11180599 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10654115 10654116 CM123123 - 1 DM NULL JAG1 Alagille syndrome CGCCCCCTAAGCCTCCTGCTCGCCCTGCTC[T/C]GTGCCCTGCGAGCCAAGgtaggagcccttc 22488849 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10654120 10654121 CM124889 - 1 DM NULL JAG1 Alagille syndrome CCGGGCGCCCCCTAAGCCTCCTGCTCGCCC[T/C]GCTCTGTGCCCTGCGAGCCAAGgtaggagc 21752016 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10654138 10654139 CD993773 - 5 DM NULL JAG1 Alagille syndrome CACGGACGCGCGGCCGGTCCGGGCGCCCCC[T/-]AAGCCTCCTGCTCGCCCTGCTCTGTGCCCT 10220506 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10654139 10654140 CD003193 - 5 DM NULL JAG1 Alagille syndrome CCACGGACGCGCGGCCGGTCCGGGCGCCCC[C/-]TAAGCCTCCTGCTCGCCCTGCTCTGTGCCC 11139247 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10654143 10654149 CX003219 - 4 DM NULL JAG1 Alagille syndrome GATGCGTTCCCCACGGACGCGCGGCCGGTC[CGGGCGC/ACTCGGGA]CCCCTAAGCCTCCTGCTCGCCCTGCTCTGT 11139247 chr20 10651370 10655919 JAG1 S chr20_10410214_10410405_10000_2:chr20_10585289_10585451_11100_3 2 chr20 10654175 10654176 CP005286 - 4 DM NULL JAG1 Alagille syndrome CCGAGTGCCCGCGGCGCGCGGCGCAGCGAT[GC/TT]GTTCCCCACGGACGCGCGGCCGGTCCGGGC 11180599 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653347 10653348 HS080020 - 2 DM NULL JAG1 Alagille syndrome TCGTGCTGCCTTTCAGTTTCGCCTGGCCGg[T/C]gagtgactactcgggaaggaggccgggcgg HGOL chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653348 10653349 CS062063 - 2 DM NULL JAG1 Alagille syndrome ATCGTGCTGCCTTTCAGTTTCGCCTGGCCG[G/A]tgagtgactactcgggaaggaggccgggcg 16575836 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653350 10653351 CM993740 - 1 DM NULL JAG1 Alagille syndrome GCATCGTGCTGCCTTTCAGTTTCGCCTGGC[C/G]Ggtgagtgactactcgggaaggaggccggg 10220506 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653353 10653354 CM030050 - 1 DM NULL JAG1 Alagille syndrome ACCGCATCGTGCTGCCTTTCAGTTTCGCCT[G/A]GCCGgtgagtgactactcgggaaggaggcc 12497640 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653357 10653358 CM993739 - 1 DM NULL JAG1 Alagille syndrome CGCAACCGCATCGTGCTGCCTTTCAGTTTC[G/A]CCTGGCCGgtgagtgactactcgggaagga 10220506 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653358 10653359 CD030141 - 5 DM NULL JAG1 Alagille syndrome CCGCAACCGCATCGTGCTGCCTTTCAGTTT[C/-]GCCTGGCCGGTGAGTGACTACTCGGGAAGG 12497640 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653365 10653366 HI080021 - 6 DM NULL JAG1 Alagille syndrome GCAACGACCGCAACCGCATCGTGCTGCCTT[-/CT]TCAGTTTCGCCTGGCCGGTGAGTGACTACT HGOL chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653369 10653370 CM030049 - 1 DM NULL JAG1 Alagille syndrome CGCGGCAACGACCGCAACCGCATCGTGCTG[C/T]CTTTCAGTTTCGCCTGGCCGgtgagtgact 12497640 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653371 10653372 HM080056 - 1 DM NULL JAG1 Alagille syndrome GCCGCGGCAACGACCGCAACCGCATCGTGC[T/C]GCCTTTCAGTTTCGCCTGGCCGgtgagtga HGOL chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653377 10653378 CM051088 - 1 DM NULL JAG1 Alagille syndrome AGGCCAGCCGCGGCAACGACCGCAACCGCA[T/A]CGTGCTGCCTTTCAGTTTCGCCTGGCCGgt 15712272 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653398 10653399 CI123126 - 6 DM NULL JAG1 Alagille syndrome GGGGCAACACCTTCAACCTCAAGGCCAGCC[-/C]GCGGCAACGACCGCAACCGCATCGTGCTGC 22488849 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653439 10653445 CD062195 - 5 DM NULL JAG1 Alagille syndrome GGCCGGGGGGCCCTGCAGCTTCGGCTCAGG[GTCCACG/-]CCTGTCATCGGGGGCAACACCTTCAACCTC 16575836 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653445 10653446 CD062194 - 5 DM NULL JAG1 Alagille syndrome GGCCGGGGGGCCCTGCAGCTTCGGCTCAGG[G/-]TCCACGCCTGTCATCGGGGGCAACACCTTC 16575836 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653449 10653450 CM061810 - 1 DM NULL JAG1 Alagille syndrome TCACGGCCGGGGGGCCCTGCAGCTTCGGCT[C/A]AGGGTCCACGCCTGTCATCGGGGGCAACAC 16575836 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653461 10653462 CM061815 - 1 DM NULL JAG1 Alagille syndrome ATCAGTCCCGCGTCACGGCCGGGGGGCCCT[G/A]CAGCTTCGGCTCAGGGTCCACGCCTGTCAT 16575836 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653462 10653463 CM061805 - 1 DM NULL JAG1 Alagille syndrome TATCAGTCCCGCGTCACGGCCGGGGGGCCC[T/C]GCAGCTTCGGCTCAGGGTCCACGCCTGTCA 16575836 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653465 10653466 CI983121 - 6 DM NULL JAG1 Alagille syndrome GAGTATCAGTCCCGCGTCACGGCCGGGGGG[-/G]CCCTGCAGCTTCGGCTCAGGGTCCACGCCT 9585603 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653466 10653467 CD062180 - 5 DM NULL JAG1 Alagille syndrome GGAGTATCAGTCCCGCGTCACGGCCGGGGG[G/-]CCCTGCAGCTTCGGCTCAGGGTCCACGCCT 16575836 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653466 10653470 CX062302 - 4 DM NULL JAG1 Alagille syndrome TCAAGGAGTATCAGTCCCGCGTCACGGCCG[GGGGG/CTT]CCCTGCAGCTTCGGCTCAGGGTCCACGCCT 16575836 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653495 10653496 CM016138 - 1 DM NULL JAG1 Alagille syndrome TGTGACACATACTTCAAAGTGTGCCTCAAG[G/T]AGTATCAGTCCCGCGTCACGGCCGGGGGGC 11359464 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653500 10653501 CM993738 - 1 DM NULL JAG1 Alagille syndrome ACGAGTGTGACACATACTTCAAAGTGTGCC[T/A]CAAGGAGTATCAGTCCCGCGTCACGGCCGG 10220506 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653501 10653502 CM102869 - 1 DM NULL JAG1 Alagille syndrome GACGAGTGTGACACATACTTCAAAGTGTGC[C/T]TCAAGGAGTATCAGTCCCGCGTCACGGCCG 20437613 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653503 10653504 CM003438 - 1 DM NULL JAG1 Alagille syndrome GCGACGAGTGTGACACATACTTCAAAGTGT[G/C]CCTCAAGGAGTATCAGTCCCGCGTCACGGC 11180599 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653503 10653504 CM016139 - 1 DM NULL JAG1 Alagille syndrome GCGACGAGTGTGACACATACTTCAAAGTGT[G/A]CCTCAAGGAGTATCAGTCCCGCGTCACGGC 11359464 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653504 10653505 CM123124 - 1 DM NULL JAG1 Alagille syndrome CGCGACGAGTGTGACACATACTTCAAAGTG[T/G]GCCTCAAGGAGTATCAGTCCCGCGTCACGG 22488849 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653504 10653505 CM124891 - 1 DM NULL JAG1 Alagille syndrome CGCGACGAGTGTGACACATACTTCAAAGTG[T/C]GCCTCAAGGAGTATCAGTCCCGCGTCACGG 21752016 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653511 10653512 CM124890 - 1 DM NULL JAG1 Alagille syndrome GTGCACCCGCGACGAGTGTGACACATACTT[C/A]AAAGTGTGCCTCAAGGAGTATCAGTCCCGC 21752016 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653511 10653525 CD003520 - 5 DM NULL JAG1 Alagille syndrome CCGGGAGACCGCAAGTGCACCCGCGACGAG[TGTGACACATACTTC/-]AAAGTGTGCCTCAAGGAGTATCAGTCCCGC 11180599 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653512 10653513 CM030048 - 1 DM NULL JAG1 Alagille syndrome AGTGCACCCGCGACGAGTGTGACACATACT[T/C]CAAAGTGTGCCTCAAGGAGTATCAGTCCCG 12497640 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653524 10653525 CI124920 - 6 DM NULL JAG1 Alagille syndrome CGGGAGACCGCAAGTGCACCCGCGACGAGT[-/T]GTGACACATACTTCAAAGTGTGCCTCAAGG 21752016 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653542 10653543 CM023737 - 1 DM NULL JAG1 Biliary atresia: extrahepatic GCGGCGGCGCCCGGAACCCGGGAGACCGCA[A/T]GTGCACCCGCGACGAGTGTGACACATACTT 12297837 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653558 10653564 CD051313 - 5 DM NULL JAG1 Alagille syndrome GAGCTGCAGAACGGGAACTGCTGCGGCGGC[GCCCGGA/-]ACCCGGGAGACCGCAAGTGCACCCGCGACG 15712272 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653571 10653572 CM061819 - 1 DM NULL JAG1 Alagille syndrome GAACGGGGAGCTGCAGAACGGGAACTGCTG[C/A]GGCGGCGCCCGGAACCCGGGAGACCGCAAG 16575836 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653574 10653575 CX016172 - 4 DM NULL JAG1 Alagille syndrome ACGTGAACGGGGAGCTGCAGAACGGGAACT[GC/AA]TGCGGCGGCGCCCGGAACCCGGGAGACCGC 11359464 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653579 10653580 CM023736 - 1 DM NULL JAG1 Biliary atresia: extrahepatic CAGAACGTGAACGGGGAGCTGCAGAACGGG[A/G]ACTGCTGCGGCGGCGCCCGGAACCCGGGAG 12297837 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653584 10653597 CD062186 - 5 DM NULL JAG1 Alagille syndrome TTGGAGATCCTGTCCATGCAGAACGTGAAC[GGGGAGCTGCAGAA/-]CGGGAACTGCTGCGGCGGCGCCCGGAACCC 16575836 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653588 10653589 CM003437 - 1 DM NULL JAG1 Alagille syndrome CTGTCCATGCAGAACGTGAACGGGGAGCTG[C/T]AGAACGGGAACTGCTGCGGCGGCGCCCGGA 11180599 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653590 10653591 CD993774 - 5 DM NULL JAG1 Alagille syndrome TCCTGTCCATGCAGAACGTGAACGGGGAGC[T/-]GCAGAACGGGAACTGCTGCGGCGGCGCCCG 10220506 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653594 10653595 CM003146 - 1 DM NULL JAG1 Alagille syndrome GAGATCCTGTCCATGCAGAACGTGAACGGG[G/T]AGCTGCAGAACGGGAACTGCTGCGGCGGCG 11139247 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653603 10653604 CM023735 - 1 DM rs183974372 JAG1 Biliary atresia: extrahepatic TTCGAGTTGGAGATCCTGTCCATGCAGAAC[G/T]TGAACGGGGAGCTGCAGAACGGGAACTGCT 12297837 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653609 10653610 CM003436 - 1 DM NULL JAG1 Alagille syndrome GGTCAGTTCGAGTTGGAGATCCTGTCCATG[C/T]AGAACGTGAACGGGGAGCTGCAGAACGGGA 11180599 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653617 10653618 CM030047 - 1 DM NULL JAG1 Alagille syndrome GGGCCTCGGGTCAGTTCGAGTTGGAGATCC[T/C]GTCCATGCAGAACGTGAACGGGGAGCTGCA 12497640 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653620 10653621 CM023393 - 1 DM NULL JAG1 Alagille syndrome GTGGGGCCTCGGGTCAGTTCGAGTTGGAGA[T/G]CCTGTCCATGCAGAACGTGAACGGGGAGCT 12442286 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653626 10653627 CM003435 - 1 DM rs121918352 JAG1 Alagille syndrome agGTGTGTGGGGCCTCGGGTCAGTTCGAGT[T/C]GGAGATCCTGTCCATGCAGAACGTGAACGG 11180599 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653637 10653638 CI016171 - 6 DM NULL JAG1 Alagille syndrome CCCTCGCCGGCAGGTGTGTGGGGCCTCGGG[-/G]TCAGTTCGAGTTGGAGATCCTGTCCATGCA 11359464 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653638 10653639 CM003434 - 1 DM NULL JAG1 Alagille syndrome tccctcgccggcagGTGTGTGGGGCCTCGG[G/A]TCAGTTCGAGTTGGAGATCCTGTCCATGCA 11180599 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653638 10653639 CM061808 - 1 DM NULL JAG1 Alagille syndrome tccctcgccggcagGTGTGTGGGGCCTCGG[G/T]TCAGTTCGAGTTGGAGATCCTGTCCATGCA 16575836 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653639 10653640 CM061807 - 1 DM NULL JAG1 Alagille syndrome ttccctcgccggcagGTGTGTGGGGCCTCG[G/A]GTCAGTTCGAGTTGGAGATCCTGTCCATGC 16575836 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653644 10653645 CM030046 - 1 DM NULL JAG1 Alagille syndrome cctccttccctcgccggcagGTGTGTGGGG[C/T]CTCGGGTCAGTTCGAGTTGGAGATCCTGTC 12497640 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653652 10653653 CD030140 - 5 DM NULL JAG1 Alagille syndrome CTGACCTACCTCCTTCCCTCGCCGGCAGGT[G/-]TGTGGGGCCTCGGGTCAGTTCGAGTTGGAG 12497640 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10653656 10653657 CS030119 - 2 DM NULL JAG1 Alagille syndrome cgcgctgacctacctccttccctcgccggc[A/G]gGTGTGTGGGGCCTCGGGTCAGTTCGAGTT 12497640 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10654095 10654106 CD003095 - 5 DM NULL JAG1 Alagille syndrome AGCCTCCTGCTCGCCCTGCTCTGTGCCCTG[CGAGCCAAGGTA/-]GGAGCCCTTCTCCGGGCCTCCCTCCCAGCC 11058898 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10654097 10654098 CS062062 - 2 DM NULL JAG1 Alagille syndrome CTCGCCCTGCTCTGTGCCCTGCGAGCCAAG[G/A]taggagcccttctccgggcctccctcccag 16575836 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10654105 10654116 CD062191 - 5 DM NULL JAG1 Alagille syndrome GCGCCCCCTAAGCCTCCTGCTCGCCCTGCT[CTGTGCCCTGCG/-]AGCCAAGGTAGGAGCCCTTCTCCGGGCCTC 16575836 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10654106 10654107 CM993737 - 1 DM NULL JAG1 Alagille syndrome AGCCTCCTGCTCGCCCTGCTCTGTGCCCTG[C/T]GAGCCAAGgtaggagcccttctccgggcct 10220506 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10654109 10654110 CD003519 - 5 DM NULL JAG1 Alagille syndrome CTAAGCCTCCTGCTCGCCCTGCTCTGTGCC[C/-]TGCGAGCCAAGGTAGGAGCCCTTCTCCGGG 11180599 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10654112 10654113 CD003518 - 5 DM NULL JAG1 Alagille syndrome CCCCCTAAGCCTCCTGCTCGCCCTGCTCTG[TG/-]CCCTGCGAGCCAAGGTAGGAGCCCTTCTCC 11180599 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10654115 10654116 CM123123 - 1 DM NULL JAG1 Alagille syndrome CGCCCCCTAAGCCTCCTGCTCGCCCTGCTC[T/C]GTGCCCTGCGAGCCAAGgtaggagcccttc 22488849 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10654120 10654121 CM124889 - 1 DM NULL JAG1 Alagille syndrome CCGGGCGCCCCCTAAGCCTCCTGCTCGCCC[T/C]GCTCTGTGCCCTGCGAGCCAAGgtaggagc 21752016 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10654138 10654139 CD993773 - 5 DM NULL JAG1 Alagille syndrome CACGGACGCGCGGCCGGTCCGGGCGCCCCC[T/-]AAGCCTCCTGCTCGCCCTGCTCTGTGCCCT 10220506 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10654139 10654140 CD003193 - 5 DM NULL JAG1 Alagille syndrome CCACGGACGCGCGGCCGGTCCGGGCGCCCC[C/-]TAAGCCTCCTGCTCGCCCTGCTCTGTGCCC 11139247 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10654143 10654149 CX003219 - 4 DM NULL JAG1 Alagille syndrome GATGCGTTCCCCACGGACGCGCGGCCGGTC[CGGGCGC/ACTCGGGA]CCCCTAAGCCTCCTGCTCGCCCTGCTCTGT 11139247 chr20 10652051 10655194 JAG1 F chr20_10652328_10652472_10101_1 1 chr20 10654175 10654176 CP005286 - 4 DM NULL JAG1 Alagille syndrome CCGAGTGCCCGCGGCGCGCGGCGCAGCGAT[GC/TT]GTTCCCCACGGACGCGCGGCCGGTCCGGGC 11180599 chr20 10652083 10652420 JAG1 F chr20_10652328_10652472_10101_1 1 . -1 -1 . -1 . . . . . . . chr20 12989533 12990103 SPTLC3 S chr20_13404621_13404763_10100_1:chr20_13405093_13405277_10000_2 2 . -1 -1 . -1 . . . . . . . chr20 13404196 13405742 FLRT3 S chr20_14318176_14318407_11101_2 1 . -1 -1 . -1 . . . . . . . chr20 14318089 14318407 FLRT3 S chr20_13404621_13404763_10100_1:chr20_13405093_13405277_10000_2 2 . -1 -1 . -1 . . . . . . . chr20 16455804 16456756 KIF16B S chr20_16554162_16554338_10101_2 1 . -1 -1 . -1 . . . . . . . chr20 16553603 16554549 KIF16B S chr20_16455970_16456225_11001_2 1 . -1 -1 . -1 . . . . . . . chr20 17593084 17594000 SNX5 S chr20_17941724_17942023_11000_2 1 . -1 -1 . -1 . . . . . . . chr20 17836674 17837294 RRBP1 S chr20_17663235_17663500_10001_1 1 . -1 -1 . -1 . . . . . . . chr20 17836674 17837294 SNX5 S chr20_17941724_17942023_11000_2:chr20_17949550_17949786_11101_1 2 . -1 -1 . -1 . . . . . . . chr20 17946136 17946538 SNX5 F chr20_17946470_17946659_10101_1:chr20_17946470_17946659_10101_1:chr20_17947727_17947876_11000_1:chr20_17947727_17947876_11000_1:chr20_17948304_17948568_11000_1:chr20_17948304_17948568_11000_1:chr20_17949550_17949654_11101_1:chr20_17949550_17949786_11101_1 8 . -1 -1 . -1 . . . . . . . chr20 17946137 17949654 SNX5 F chr20_17945836_17946012_11001_1:chr20_17946470_17946659_10101_1 2 . -1 -1 . -1 . . . . . . . chr20 17946137 17949990 SNX5 F chr20_17945836_17946012_11001_1:chr20_17946470_17946659_10101_1 2 . -1 -1 . -1 . . . . . . . chr20 18394080 18394180 DZANK1 S chr20_17585958_17586161_11101_3 1 . -1 -1 . -1 . . . . . . . chr20 20801001 20801397 PLK1S1 S chr20_21106584_21106795_11000_2:chr20_21106972_21107173_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 20818318 20818741 PLK1S1 S chr20_21106584_21106795_11000_2:chr20_21106972_21107173_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 21105917 21107417 PLK1S1 S chr20_20818511_20818678_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 21115251 21116400 PLK1S1 S chr20_21106584_21106795_11000_2:chr20_21106972_21107173_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 21115251 21116400 XRN2 S chr20_21283862_21283985_11101_1:chr20_21284343_21284599_11101_3 2 . -1 -1 . -1 . . . . . . . chr20 22487804 22489170 FOXA2 S chr20_22563870_22564075_11000_1:chr20_22564864_22565131_11100_1:chr20_22565895_22566284_11100_4 3 . -1 -1 . -1 . . . . . . . chr20 22487804 22489170 GZF1 S chr20_23341885_23342067_11001_1:chr20_23342474_23342782_11101_2 2 . -1 -1 . -1 . . . . . . . chr20 22505800 22506236 FOXA2 S chr20_22563870_22564075_11000_1:chr20_22564864_22565131_11100_1:chr20_22565895_22566284_11100_4 3 . -1 -1 . -1 . . . . . . . chr20 22505800 22506236 GZF1 S chr20_23341885_23342067_11001_1:chr20_23342474_23342782_11101_2 2 . -1 -1 . -1 . . . . . . . chr20 22514262 22515631 FOXA2 S chr20_22563870_22564075_11000_1:chr20_22564864_22565131_11100_1:chr20_22565895_22566284_11100_4 3 . -1 -1 . -1 . . . . . . . chr20 22563256 22566284 FOXA2 S chr20_22487938_22488175_11101_3:chr20_22505800_22506072_10000_4 2 chr20 22563582 22563583 CM005502 - 1 DM? rs201350646 FOXA2 Impaired glucose homeostasis GCGGGCGCCATGGCGGGCATGGGCGGCTCG[G/C]CCGGGGCGGCCGGCGTGGCGGGCATGGGGC 10899756 chr20 23341783 23343762 GZF1 S chr20_22487938_22488175_11101_3:chr20_22505800_22506072_10000_4 2 . -1 -1 . -1 . . . . . . . chr20 23639121 23640400 GZF1 S chr20_23341885_23342067_11001_1:chr20_23342474_23342782_11101_2 2 . -1 -1 . -1 . . . . . . . chr20 24929365 24932723 CST7 F chr20_24932355_24932543_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 24932425 24932619 CST7 F chr20_24932355_24932543_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 25203654 25204239 ABHD12 S chr20_25291070_25291235_10000_2 1 . -1 -1 . -1 . . . . . . . chr20 25290000 25291472 ABHD12 S chr20_25488740_25489016_11000_2 1 . -1 -1 . -1 . . . . . . . chr20 25318727 25320000 NANP S chr20_25604316_25604741_10000_1 1 chr20 25319986 25319987 CM127919 - 1 DM NULL ABHD12 Usher syndrome 3 ctgacctattcattgcttttctcttgcagG[C/T]GAAAGGGCGTGTGGTTGCGCCTGAGGAAGA 22938382 chr20 25318727 25320000 ZNF337 S chr20_25677511_25677726_10000_1 1 chr20 25319986 25319987 CM127919 - 1 DM NULL ABHD12 Usher syndrome 3 ctgacctattcattgcttttctcttgcagG[C/T]GAAAGGGCGTGTGGTTGCGCCTGAGGAAGA 22938382 chr20 25370361 25371944 ABHD12 S chr20_25488740_25489016_11000_2 1 . -1 -1 . -1 . . . . . . . chr20 25487936 25489718 ABHD12 S chr20_25291070_25291235_10000_2 1 . -1 -1 . -1 . . . . . . . chr20 25487936 25489718 NANP S chr20_25604316_25604741_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 25487936 25489718 ZNF337 S chr20_25677511_25677726_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 25603524 25605493 NANP S chr20_25319090_25319325_10000_2:chr20_25488740_25489016_11000_2 2 . -1 -1 . -1 . . . . . . . chr20 25676467 25677861 ZNF337 S chr20_25319090_25319325_10000_2:chr20_25488740_25489016_11000_2 2 . -1 -1 . -1 . . . . . . . chr20 29611400 29612400 FRG1B S chr20_30158066_30158197_11100_1:chr20_30284046_30284385_11101_4:chr20_30285010_30285269_11000_1:chr20_30286688_30286898_11000_1:chr20_30292473_30292822_11101_3:chr20_30294605_30294852_11100_3 6 . -1 -1 . -1 . . . . . . . chr20 29901171 29901311 DEFB116 S chr20_30158066_30158197_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 30101740 30105567 HM13 F chr20_30105282_30105466_11000_1 1 . -1 -1 . -1 . . . . . . . chr20 30102005 30103102 HM13 S chr20_30158066_30158197_11100_1:chr20_30252169_30252363_11000_3:chr20_30284046_30284385_11101_4:chr20_30285010_30285269_11000_1:chr20_30286688_30286898_11000_1:chr20_30292473_30292822_11101_3:chr20_30294605_30294852_11100_3 7 . -1 -1 . -1 . . . . . . . chr20 30104625 30104737 HM13 F chr20_30102157_30102383_11101_2 1 . -1 -1 . -1 . . . . . . . chr20 30105267 30105465 HM13 F chr20_30102157_30102383_11101_2:chr20_30105282_30105466_11000_1 2 . -1 -1 . -1 . . . . . . . chr20 30134631 30135446 HM13 S chr20_30158066_30158197_11100_1:chr20_30252169_30252363_11000_3:chr20_30284046_30284385_11101_4:chr20_30285010_30285269_11000_1:chr20_30286688_30286898_11000_1:chr20_30292473_30292822_11101_3:chr20_30294605_30294852_11100_3 7 . -1 -1 . -1 . . . . . . . chr20 30136651 30136855 HM13 S chr20_30252169_30252363_11000_3:chr20_30284046_30284385_11101_4:chr20_30285010_30285269_11000_1:chr20_30286688_30286898_11000_1:chr20_30292473_30292822_11101_3:chr20_30294605_30294852_11100_3 6 . -1 -1 . -1 . . . . . . . chr20 30157115 30158524 ASXL1 S chr20_30955062_30955241_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 30157115 30158524 BCL2L1 S chr20_30310690_30310800_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 30157115 30158524 ENSG00000239109 S chr20_30877510_30877728_11000_4 1 . -1 -1 . -1 . . . . . . . chr20 30157115 30158524 FRG1B S chr20_29611864_29612031_00000_1:chr20_29612392_29612400_00000_1 2 . -1 -1 . -1 . . . . . . . chr20 30157115 30158524 HM13-AS1 S chr20_30160556_30161154_11100_2:chr20_30162227_30162337_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 30157115 30158524 HM13 S chr20_30102157_30102383_11101_2 1 . -1 -1 . -1 . . . . . . . chr20 30157115 30158524 ID1 S chr20_30192892_30193021_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 30159203 30159295 BCL2L1 S chr20_30310690_30310800_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 30160145 30162400 HM13-AS1 S chr20_30158066_30158197_11100_1:chr20_30252169_30252363_11000_3:chr20_30284046_30284385_11101_4:chr20_30285010_30285269_11000_1:chr20_30286688_30286898_11000_1:chr20_30292473_30292822_11101_3:chr20_30294605_30294852_11100_3 7 . -1 -1 . -1 . . . . . . . chr20 30190743 30190994 ID1 F chr20_30192892_30193021_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 30191776 30193200 ID1 S chr20_30158066_30158197_11100_1:chr20_30252169_30252363_11000_3:chr20_30284046_30284385_11101_4:chr20_30285010_30285269_11000_1:chr20_30286688_30286898_11000_1:chr20_30292473_30292822_11101_3:chr20_30294605_30294852_11100_3 7 . -1 -1 . -1 . . . . . . . chr20 30191850 30192346 ID1 F chr20_30192892_30193021_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 30192585 30196717 ID1 F chr20_30196345_30196686_11101_3 1 . -1 -1 . -1 . . . . . . . chr20 30196293 30196740 ID1 F chr20_30192892_30193021_11100_1:chr20_30195138_30195248_00000_1:chr20_30195520_30195785_00000_1:chr20_30196345_30196686_11101_3 4 . -1 -1 . -1 . . . . . . . chr20 30222330 30222503 BCL2L1 S chr20_30310690_30310800_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 30251183 30253400 ASXL1 S chr20_30945240_30945511_11100_1:chr20_30945756_30946371_11100_1 2 . -1 -1 . -1 . . . . . . . chr20 30251183 30253400 BCL2L1 S chr20_30310690_30310800_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 30251183 30253400 HM13-AS1 S chr20_30160556_30161154_11100_2:chr20_30162227_30162337_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 30251183 30253400 HM13 S chr20_30102157_30102383_11101_2 1 . -1 -1 . -1 . . . . . . . chr20 30251183 30253400 ID1 S chr20_30192892_30193021_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 30267400 30267600 BCL2L1 S chr20_30310690_30310800_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 30283800 30288494 ASXL1 S chr20_30945240_30945511_11100_1:chr20_30945756_30946371_11100_1 2 . -1 -1 . -1 . . . . . . . chr20 30283800 30288494 BCL2L1 S chr20_30310690_30310800_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 30283800 30288494 ENSG00000239109 S chr20_30877510_30877728_11000_4 1 . -1 -1 . -1 . . . . . . . chr20 30283800 30288494 FRG1B S chr20_29611864_29612031_00000_1:chr20_29612392_29612400_00000_1 2 . -1 -1 . -1 . . . . . . . chr20 30283800 30288494 HM13-AS1 S chr20_30160556_30161154_11100_2:chr20_30162227_30162337_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 30283800 30288494 HM13 S chr20_30102157_30102383_11101_2 1 . -1 -1 . -1 . . . . . . . chr20 30283800 30288494 ID1 S chr20_30192892_30193021_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 30283800 30288494 TPX2 S chr20_30326820_30326948_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 30288666 30288800 BCL2L1 S chr20_30310690_30310800_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 30292000 30295162 BCL2L1 S chr20_30310690_30310800_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 30292000 30295162 ENSG00000239109 S chr20_30877510_30877728_11000_4 1 . -1 -1 . -1 . . . . . . . chr20 30292000 30295162 FRG1B S chr20_29611864_29612031_00000_1:chr20_29612392_29612400_00000_1 2 . -1 -1 . -1 . . . . . . . chr20 30292000 30295162 HM13-AS1 S chr20_30160556_30161154_11100_2:chr20_30162227_30162337_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 30292000 30295162 HM13 S chr20_30102157_30102383_11101_2 1 . -1 -1 . -1 . . . . . . . chr20 30292000 30295162 ID1 S chr20_30192892_30193021_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 30300400 30300600 ASXL1 S chr20_30945240_30945511_11100_1:chr20_30945756_30946371_11100_1:chr20_30955062_30955241_10000_1 3 . -1 -1 . -1 . . . . . . . chr20 30300400 30300600 BCL2L1 S chr20_30310690_30310800_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 30300400 30300600 ENSG00000239109 S chr20_30877510_30877728_11000_4 1 . -1 -1 . -1 . . . . . . . chr20 30300400 30300600 FRG1B S chr20_29611864_29612031_00000_1:chr20_29612392_29612400_00000_1 2 . -1 -1 . -1 . . . . . . . chr20 30300400 30300600 HM13-AS1 S chr20_30160556_30161154_11100_2:chr20_30162227_30162337_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 30300400 30300600 HM13 S chr20_30102157_30102383_11101_2 1 . -1 -1 . -1 . . . . . . . chr20 30300400 30300600 ID1 S chr20_30192892_30193021_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 30309600 30312153 BCL2L1 S chr20_30158066_30158197_11100_1:chr20_30252169_30252363_11000_3:chr20_30284046_30284385_11101_4:chr20_30285010_30285269_11000_1:chr20_30286688_30286898_11000_1:chr20_30292473_30292822_11101_3:chr20_30294605_30294852_11100_3:chr20_30913541_30913902_10000_2:chr20_30956282_30956374_10000_1 9 . -1 -1 . -1 . . . . . . . chr20 30326452 30327626 TPX2 S chr20_30284046_30284385_11101_4:chr20_30285010_30285269_11000_1:chr20_30286688_30286898_11000_1 3 . -1 -1 . -1 . . . . . . . chr20 30539225 30539986 PDRG1 S chr20_30158066_30158197_11100_1:chr20_30284046_30284385_11101_4:chr20_30285010_30285269_11000_1:chr20_30286688_30286898_11000_1:chr20_30292473_30292822_11101_3:chr20_30294605_30294852_11100_3 6 . -1 -1 . -1 . . . . . . . chr20 30696808 30699973 TM9SF4 F chr20_30699379_30699385_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 30699679 30699866 TM9SF4 F chr20_30699255_30699385_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 30700574 30701059 TM9SF4 F chr20_30699255_30699385_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 30793004 30793191 PLAGL2 F chr20_30795522_30795719_10101_1:chr20_30795976_30796046_10100_2 2 . -1 -1 . -1 . . . . . . . chr20 30793339 30793589 PLAGL2 F chr20_30795522_30795719_10101_1:chr20_30795976_30796046_10100_2 2 . -1 -1 . -1 . . . . . . . chr20 30798175 30798293 BCL2L1 S chr20_30310690_30310800_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 30877000 30878055 ENSG00000239109 S chr20_30158066_30158197_11100_1:chr20_30284046_30284385_11101_4:chr20_30285010_30285269_11000_1:chr20_30286688_30286898_11000_1:chr20_30292473_30292822_11101_3:chr20_30294605_30294852_11100_3 6 . -1 -1 . -1 . . . . . . . chr20 30913541 30914593 BCL2L1 S chr20_30310690_30310800_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 30945125 30947200 ASXL1 S chr20_30252169_30252363_11000_3:chr20_30284046_30284385_11101_4:chr20_30285010_30285269_11000_1:chr20_30286688_30286898_11000_1 4 . -1 -1 . -1 . . . . . . . chr20 30954800 30955000 BCL2L1 S chr20_30310690_30310800_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 30955000 30955772 ASXL1 S chr20_30158066_30158197_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 30956127 30956200 ASXL1 S chr20_30158066_30158197_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 30956200 30956374 BCL2L1 S chr20_30310690_30310800_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 31059925 31060200 BCL2L1 S chr20_30310690_30310800_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 31059925 31060200 BPIFB2 S chr20_31595322_31595554_11000_1 1 . -1 -1 . -1 . . . . . . . chr20 31064800 31065334 BCL2L1 S chr20_30310690_30310800_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 31127000 31129400 BCL2L1 S chr20_30310690_30310800_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 31127000 31129400 BPIFB2 S chr20_31595322_31595554_11000_1 1 . -1 -1 . -1 . . . . . . . chr20 31127000 31129400 HM13-AS1 S chr20_30160556_30161154_11100_2:chr20_30162227_30162337_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 31149723 31150653 ENSG00000233293 S chr20_30158066_30158197_11100_1:chr20_30284046_30284385_11101_4:chr20_30285010_30285269_11000_1:chr20_30286688_30286898_11000_1:chr20_30292473_30292822_11101_3:chr20_30294605_30294852_11100_3 6 . -1 -1 . -1 . . . . . . . chr20 31593377 31597957 BPIFB2 S chr20_31960982_31961232_10000_1:chr20_31961577_31961820_11000_2 2 . -1 -1 . -1 . . . . . . . chr20 31597104 31597733 BPIL1 F chr20_31595322_31595554_11000_1 1 . -1 -1 . -1 . . . . . . . chr20 31886819 31887025 C20orf203 S chr20_31240598_31240848_10101_2 1 . -1 -1 . -1 . . . . . . . chr20 31960828 31962700 BPIFB2 S chr20_31595322_31595554_11000_1 1 . -1 -1 . -1 . . . . . . . chr20 32259000 32259693 NECAB3 S chr20_33113636_33114129_10000_2 1 . -1 -1 . -1 . . . . . . . chr20 32259995 32260244 NECAB3 S chr20_33113636_33114129_10000_2 1 . -1 -1 . -1 . . . . . . . chr20 32260530 32262953 NECAB3 S chr20_33113636_33114129_10000_2 1 . -1 -1 . -1 . . . . . . . chr20 32398609 32401205 CHMP4B F chr20_32401012_32401269_11000_2 1 . -1 -1 . -1 . . . . . . . chr20 32400902 32401106 CHMP4B F chr20_32398840_32399081_11101_2:chr20_32400075_32400250_11100_2:chr20_32401012_32401205_11000_2 3 . -1 -1 . -1 . . . . . . . chr20 32698816 32700881 EIF2S2 S chr20_33113636_33114129_10000_2 1 . -1 -1 . -1 . . . . . . . chr20 32717200 32717616 AHCY S chr20_32900603_32900800_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 32890137 32891483 AHCY S chr20_33113636_33114129_10000_2 1 chr20 32891110 32891111 CR096336 - 3 FP rs57344541 AHCY Reduced transcription CAGTTCCTGTTCCCAGACTGAGGCCCAGCC[C/T]CCTTCGCCCGTTTCCATCACGAGTGCCGCC 19619139 chr20 33103124 33104970 DYNLRB1 S chr20_33113636_33114129_10000_2 1 . -1 -1 . -1 . . . . . . . chr20 33113200 33113400 ENSG00000206582 S chr20_33113636_33114129_10000_2 1 . -1 -1 . -1 . . . . . . . chr20 33113400 33114685 AHCY S chr20_32890762_32891424_10000_3 1 . -1 -1 . -1 . . . . . . . chr20 33113400 33114685 DYNLRB1 S chr20_33103681_33103810_10101_1 1 . -1 -1 . -1 . . . . . . . chr20 33113400 33114685 EIF2S2 S chr20_32699007_32699204_10000_1:chr20_32699927_32700375_10000_3 2 . -1 -1 . -1 . . . . . . . chr20 33113400 33114685 NECAB3 S chr20_32262200_32262422_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 33113400 33114685 TRPC4AP S chr20_33680890_33681089_10101_1 1 . -1 -1 . -1 . . . . . . . chr20 33679566 33681203 TRPC4AP S chr20_33113636_33114129_10000_2 1 . -1 -1 . -1 . . . . . . . chr20 33735973 33736225 EDEM2 F chr20_33734877_33735286_11101_2 1 . -1 -1 . -1 . . . . . . . chr20 33870473 33870565 MMP24-AS1 S chr20_33113636_33114129_10000_2 1 . -1 -1 . -1 . . . . . . . chr20 34285785 34288000 ROMO1 S chr20_35236410_35236671_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 34329600 34331531 RBM39 S chr20_35236410_35236671_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 34330989 34331372 RBM39 F chr20_34330164_34330448_11000_2 1 . -1 -1 . -1 . . . . . . . chr20 34356129 34356371 PHF20 F chr20_34357028_34357246_10000_1:chr20_34359717_34359941_10000_2 2 . -1 -1 . -1 . . . . . . . chr20 34359400 34360677 PHF20 S chr20_35236410_35236671_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 34540722 34543137 SCAND1 S chr20_35236410_35236671_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 34770065 34771791 C20orf24 S chr20_35233923_35234107_11101_1:chr20_35235270_35235473_11101_1 2 . -1 -1 . -1 . . . . . . . chr20 34770065 34771791 SCAND1 S chr20_34542196_34542684_11101_1 1 . -1 -1 . -1 . . . . . . . chr20 34770065 34771791 SPAG4 S chr20_34207289_34207527_11000_1 1 . -1 -1 . -1 . . . . . . . chr20 34823789 34825000 AAR2 S chr20_35236410_35236671_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 35233639 35235571 C20orf24 S chr20_35236410_35236671_10000_1:chr20_36008828_36008999_11000_2:chr20_36027760_36027915_11000_3 3 . -1 -1 . -1 . . . . . . . chr20 35236200 35236913 AAR2 S chr20_34824293_34824445_11101_1 1 . -1 -1 . -1 . . . . . . . chr20 35236200 35236913 C20orf24 S chr20_35233923_35234107_11101_1:chr20_35235270_35235473_11101_1 2 . -1 -1 . -1 . . . . . . . chr20 35236200 35236913 MROH8 S chr20_35806698_35806803_10001_1:chr20_35808175_35808396_11100_1 2 . -1 -1 . -1 . . . . . . . chr20 35236200 35236913 NDRG3 S chr20_35374555_35374665_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 35236200 35236913 PHF20 S chr20_34359717_34359941_10000_2 1 . -1 -1 . -1 . . . . . . . chr20 35236200 35236913 RBM39 S chr20_34330164_34330448_11000_2 1 . -1 -1 . -1 . . . . . . . chr20 35236200 35236913 SCAND1 S chr20_34542196_34542684_11101_1 1 . -1 -1 . -1 . . . . . . . chr20 35373770 35374932 NDRG3 S chr20_35236410_35236671_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 35401539 35402985 DSN1 S chr20_35236410_35236671_10000_1:chr20_36008828_36008999_11000_2:chr20_36027760_36027915_11000_3 3 . -1 -1 . -1 . . . . . . . chr20 35489219 35489615 SOGA1 S chr20_36008828_36008999_11000_2 1 . -1 -1 . -1 . . . . . . . chr20 35489733 35489908 SOGA1 S chr20_36008828_36008999_11000_2 1 . -1 -1 . -1 . . . . . . . chr20 35490219 35491172 SOGA1 S chr20_35236410_35236671_10000_1:chr20_36008828_36008999_11000_2 2 . -1 -1 . -1 . . . . . . . chr20 35806444 35808824 MROH8 S chr20_35236410_35236671_10000_1:chr20_36027760_36027915_11000_3 2 . -1 -1 . -1 . . . . . . . chr20 35917650 35918784 MANBAL S chr20_35236410_35236671_10000_1:chr20_36008828_36008999_11000_2 2 . -1 -1 . -1 . . . . . . . chr20 35975033 35975125 SRC S chr20_35236410_35236671_10000_1:chr20_36008828_36008999_11000_2 2 . -1 -1 . -1 . . . . . . . chr20 35976204 35976856 SRC S chr20_35236410_35236671_10000_1:chr20_36008828_36008999_11000_2 2 . -1 -1 . -1 . . . . . . . chr20 36008600 36009600 C20orf24 S chr20_35233923_35234107_11101_1:chr20_35235270_35235473_11101_1 2 . -1 -1 . -1 . . . . . . . chr20 36026795 36028144 C20orf24 S chr20_35233923_35234107_11101_1:chr20_35235270_35235473_11101_1 2 . -1 -1 . -1 . . . . . . . chr20 36026795 36028144 MROH8 S chr20_35806698_35806803_10001_1:chr20_35808175_35808396_11100_1 2 . -1 -1 . -1 . . . . . . . chr20 36133573 36134000 SNHG17 S chr20_37063994_37064117_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 36153200 36153285 NNAT S chr20_36008828_36008999_11000_2 1 . -1 -1 . -1 . . . . . . . chr20 36154614 36156583 BLCAP F chr20_36154943_36155128_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 36154614 36156634 BLCAP F chr20_36154943_36155128_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 36154614 36156833 BLCAP F chr20_36154943_36155128_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 36154671 36154957 BLCAP F chr20_36154943_36155128_11100_1:chr20_36154943_36155128_11100_1:chr20_36154943_36155128_11100_1:chr20_36156285_36156583_11101_2:chr20_36156285_36156634_11101_2:chr20_36156285_36156796_11101_2 6 . -1 -1 . -1 . . . . . . . chr20 36525405 36525742 MROH8 S chr20_35806698_35806803_10001_1:chr20_35808175_35808396_11100_1 2 . -1 -1 . -1 . . . . . . . chr20 36530853 36532013 MROH8 S chr20_35806698_35806803_10001_1:chr20_35808175_35808396_11100_1 2 . -1 -1 . -1 . . . . . . . chr20 36530853 36532013 SNHG17 S chr20_37063994_37064117_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 36612168 36613330 SNHG17 S chr20_37063994_37064117_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 36667125 36667259 SNHG17 S chr20_37063994_37064117_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 36711200 36711570 SNHG17 S chr20_37063994_37064117_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 36721884 36723016 SNHG17 S chr20_37063994_37064117_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 36753200 36753657 SNHG17 S chr20_37063994_37064117_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 36919400 36919785 SNHG17 S chr20_37063994_37064117_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 37062888 37064415 SNHG17 S chr20_36133759_36133974_10000_1:chr20_36612570_36612823_11000_1:chr20_36711367_36711570_11000_1:chr20_36722824_36722984_10100_1:chr20_36919400_36919785_11000_2:chr20_37542341_37542631_10000_3:chr20_37642400_37642532_10000_1 7 . -1 -1 . -1 . . . . . . . chr20 37075017 37076308 SNHG11 S chr20_36612570_36612823_11000_1:chr20_36711367_36711570_11000_1:chr20_36722824_36722984_10100_1:chr20_37542341_37542631_10000_3:chr20_37642400_37642532_10000_1 5 . -1 -1 . -1 . . . . . . . chr20 37100983 37102179 RALGAPB S chr20_37542341_37542631_10000_3 1 . -1 -1 . -1 . . . . . . . chr20 37274600 37274879 SNHG17 S chr20_37063994_37064117_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 37275063 37275400 SNHG17 S chr20_37063994_37064117_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 37542025 37543236 FAM83D S chr20_37554786_37554985_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 37542025 37543236 RALGAPB S chr20_37101216_37101335_11101_1 1 . -1 -1 . -1 . . . . . . . chr20 37542025 37543236 SNHG17 S chr20_37063994_37064117_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 37554405 37555963 FAM83D S chr20_37542341_37542631_10000_3 1 . -1 -1 . -1 . . . . . . . chr20 37628402 37629800 SNHG17 S chr20_37063994_37064117_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 37642400 37642741 SNHG17 S chr20_37063994_37064117_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 39656907 39658521 TOP1 S chr20_40125817_40126132_11000_3 1 . -1 -1 . -1 . . . . . . . chr20 39769400 39770400 TOP1 S chr20_39657150_39657644_00000_3 1 . -1 -1 . -1 . . . . . . . chr20 39778304 39778753 TOP1 S chr20_39657150_39657644_00000_3 1 . -1 -1 . -1 . . . . . . . chr20 40125800 40126400 TOP1 S chr20_39657150_39657644_00000_3 1 . -1 -1 . -1 . . . . . . . chr20 42085741 42087508 SRSF6 S chr20_42176140_42176467_10100_1:chr20_43038876_43039103_11100_3:chr20_43039889_43040146_11101_3:chr20_43043526_43043738_11101_1 4 . -1 -1 . -1 . . . . . . . chr20 42087750 42087996 SRSF6 S chr20_43038876_43039103_11100_3:chr20_43039889_43040146_11101_3 2 . -1 -1 . -1 . . . . . . . chr20 42088413 42088507 SRSF6 S chr20_43038876_43039103_11100_3:chr20_43039889_43040146_11101_3 2 . -1 -1 . -1 . . . . . . . chr20 42176018 42176800 ENSG00000229005 S chr20_43023143_43023530_11000_3:chr20_43024207_43024462_11000_1 2 . -1 -1 . -1 . . . . . . . chr20 42176018 42176800 SGK2 S chr20_42186296_42186767_11101_3:chr20_42187500_42187735_11101_1 2 . -1 -1 . -1 . . . . . . . chr20 42186044 42187865 SGK2 S chr20_42176140_42176467_10100_1:chr20_43038876_43039103_11100_3:chr20_43039889_43040146_11101_3 3 . -1 -1 . -1 . . . . . . . chr20 42189975 42190335 SGK2 F chr20_42187500_42187735_11101_1:chr20_42188275_42188509_10000_1:chr20_42188996_42189505_11000_3 3 . -1 -1 . -1 . . . . . . . chr20 42838423 42840203 OSER1 S chr20_43038876_43039103_11100_3:chr20_43039889_43040146_11101_3 2 . -1 -1 . -1 . . . . . . . chr20 42983448 42985259 HNF4A S chr20_43038876_43039103_11100_3:chr20_43039889_43040146_11101_3 2 chr20 42984253 42984254 CR062117 + 3 DM NULL HNF4A Diabetes: MODY1 AGACAGCAACAGTCCCCAGCCGCGGGTTCC[C/G]TAAGTGACTGGTTACTCTTTAACGTATCCA 16731855 chr20 42983448 42985259 HNF4A S chr20_43038876_43039103_11100_3:chr20_43039889_43040146_11101_3 2 chr20 42984264 42984265 CR022281 + 3 DM NULL HNF4A Diabetes: MODY1 GTCCCCAGCCGCGGGTTCCCTAAGTGACTG[G/A]TTACTCTTTAACGTATCCACCCACCTTGGG 12235114 chr20 42983448 42985259 HNF4A S chr20_43038876_43039103_11100_3:chr20_43039889_43040146_11101_3 2 chr20 42984271 42984272 CR133305 + 3 DM NULL HNF4A Diabetes: MODY GCCGCGGGTTCCCTAAGTGACTGGTTACTC[T/C]TTAACGTATCCACCCACCTTGGGTGATTAG 23348805 chr20 42983448 42985259 HNF4A S chr20_43038876_43039103_11100_3:chr20_43039889_43040146_11101_3 2 chr20 42984276 42984277 CR103903 + 3 DM NULL HNF4A Diabetes GGGTTCCCTAAGTGACTGGTTACTCTTTAA[C/T]GTATCCACCCACCTTGGGTGATTAGAAGAA 20546279 chr20 42983448 42985259 HNF4A S chr20_43038876_43039103_11100_3:chr20_43039889_43040146_11101_3 2 chr20 42984299 42984300 CR013122 + 3 DM NULL HNF4A Diabetes: MODY1 TCTTTAACGTATCCACCCACCTTGGGTGAT[T/C]AGAAGAATCAATAAGATAACCGGGCGGTGG 11590126 chr20 42983448 42985259 HNF4A S chr20_43038876_43039103_11100_3:chr20_43039889_43040146_11101_3 2 chr20 42984309 42984310 CR103902 + 3 DM NULL HNF4A Diabetes ATCCACCCACCTTGGGTGATTAGAAGAATC[A/G]ATAAGATAACCGGGCGGTGGCAGCTGGCCG 20546279 chr20 42983448 42985259 HNF4A S chr20_43038876_43039103_11100_3:chr20_43039889_43040146_11101_3 2 chr20 42984316 42984317 CR119351 + 3 DM? NULL HNF4A Diabetes: MODY CACCTTGGGTGATTAGAAGAATCAATAAGA[T/C]AACCGGGCGGTGGCAGCTGGCCGCACTCAC 21062274 chr20 42983448 42985259 HNF4A S chr20_43038876_43039103_11100_3:chr20_43039889_43040146_11101_3 2 chr20 42984366 42984367 CR119352 + 3 DM? rs373143621 HNF4A Diabetes: MODY GCCGCACTCACCGCCTTCCTGGTGGACGGG[C/T]TCCTGGTGGCTGTGCTGCTGCTGTGAGCGG 21062274 chr20 42983448 42985259 HNF4A S chr20_43038876_43039103_11100_3:chr20_43039889_43040146_11101_3 2 chr20 42984445 42984446 CD133295 + 5 DM NULL HNF4A Diabetes: MODY CCCCAGCTCTCCGGCTGGGTGGGCTTGGCC[A/-]TGGTCAGCGTGAACGCGCCCCTCGGGGCTC 23348805 chr20 42983448 42985259 HNF4A S chr20_43038876_43039103_11100_3:chr20_43039889_43040146_11101_3 2 chr20 42984447 42984448 CM1111341 + 1 DM NULL HNF4A Diabetes: MODY ccagctctccggctgggtgggcttggccAT[G/A]GTCAGCGTGAACGCGCCCCTCGGGGCTCCA 21683639 chr20 42983448 42985259 HNF4A S chr20_43038876_43039103_11100_3:chr20_43039889_43040146_11101_3 2 chr20 42984492 42984493 CM074905 + 1 DM NULL HNF4A Diabetes: MODY GCCCCTCGGGGCTCCAGTGGAGAGTTCTTA[C/G]Ggtaagtggggctgggggaagactggacag 17407387 chr20 43021217 43022195 ENSG00000229005 S chr20_43038876_43039103_11100_3:chr20_43039889_43040146_11101_3 2 . -1 -1 . -1 . . . . . . . chr20 43022575 43024749 ENSG00000229005 S chr20_42176140_42176467_10100_1:chr20_43038876_43039103_11100_3:chr20_43039889_43040146_11101_3:chr20_43057272_43057454_11101_2 4 . -1 -1 . -1 . . . . . . . chr20 43029636 43030400 HNF4A S chr20_43038876_43039103_11100_3:chr20_43039889_43040146_11101_3 2 . -1 -1 . -1 . . . . . . . chr20 43038684 43041882 ENSG00000229005 S chr20_43021814_43022051_11000_3:chr20_43023143_43023530_11000_3:chr20_43024207_43024462_11000_1 3 . -1 -1 . -1 . . . . . . . chr20 43038684 43041882 HNF4A S chr20_42984001_42984388_10101_3:chr20_43029777_43029927_11000_1 2 . -1 -1 . -1 . . . . . . . chr20 43038684 43041882 OSER1 S chr20_42839570_42839721_11101_3 1 . -1 -1 . -1 . . . . . . . chr20 43038684 43041882 PABPC1L S chr20_43540159_43540419_10000_3 1 . -1 -1 . -1 . . . . . . . chr20 43038684 43041882 SGK2 S chr20_42186296_42186767_11101_3:chr20_42187500_42187735_11101_1 2 . -1 -1 . -1 . . . . . . . chr20 43038684 43041882 STK4 S chr20_43594997_43595115_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 43038684 43041882 SYS1 S chr20_43991605_43991828_10100_1 1 . -1 -1 . -1 . . . . . . . chr20 43038684 43041882 TOMM34 S chr20_43589046_43589186_11101_1 1 . -1 -1 . -1 . . . . . . . chr20 43046726 43047400 ENSG00000229005 S chr20_43023143_43023530_11000_3:chr20_43024207_43024462_11000_1 2 chr20 43047063 43047064 CD021414 + 5 DM NULL HNF4A Diabetes: MODY1 AGATGGCAAACACTGTTCCTTCTCTCTTTC[A/-]GGTGGCCCTGCTCAGAGCCCATGCTGGCGA 12050210 chr20 43046726 43047400 ENSG00000229005 S chr20_43023143_43023530_11000_3:chr20_43024207_43024462_11000_1 2 chr20 43047064 43047065 CS056755 + 2 DM NULL HNF4A Diabetes: MODY gatggcaaacactgttccttctctctttca[G/A]GTGGCCCTGCTCAGAGCCCATGCTGGCGAG 15693590 chr20 43046726 43047400 ENSG00000229005 S chr20_43023143_43023530_11000_3:chr20_43024207_43024462_11000_1 2 chr20 43047071 43047072 CM133274 + 1 DM NULL HNF4A Diabetes: MODY aacactgttccttctctctttcagGTGGCC[C/A]TGCTCAGAGCCCATGCTGGCGAGCACCTGC 23348805 chr20 43046726 43047400 ENSG00000229005 S chr20_43023143_43023530_11000_3:chr20_43024207_43024462_11000_1 2 chr20 43047083 43047084 CM0911393 + 1 DM NULL HNF4A Diabetes: MODY tctctctttcagGTGGCCCTGCTCAGAGCC[C/T]ATGCTGGCGAGCACCTGCTGCTCGGAGCCA 19929997 chr20 43046726 43047400 ENSG00000229005 S chr20_43023143_43023530_11000_3:chr20_43024207_43024462_11000_1 2 chr20 43047084 43047085 CM128622 + 1 DM NULL HNF4A Diabetes: MODY ctctctttcagGTGGCCCTGCTCAGAGCCC[A/G]TGCTGGCGAGCACCTGCTGCTCGGAGCCAC 22432108 chr20 43046726 43047400 ENSG00000229005 S chr20_43023143_43023530_11000_3:chr20_43024207_43024462_11000_1 2 chr20 43047090 43047091 CM133276 + 1 DM NULL HNF4A Diabetes: MODY ttcagGTGGCCCTGCTCAGAGCCCATGCTG[G/A]CGAGCACCTGCTGCTCGGAGCCACCAAGAG 23348805 chr20 43046726 43047400 ENSG00000229005 S chr20_43023143_43023530_11000_3:chr20_43024207_43024462_11000_1 2 chr20 43047096 43047097 CM133277 + 1 DM NULL HNF4A Diabetes: MODY TGGCCCTGCTCAGAGCCCATGCTGGCGAGC[A/C]CCTGCTGCTCGGAGCCACCAAGAGATCCAT 23348805 chr20 43046726 43047400 ENSG00000229005 S chr20_43023143_43023530_11000_3:chr20_43024207_43024462_11000_1 2 chr20 43047099 43047100 CM133278 + 1 DM NULL HNF4A Diabetes: MODY CCCTGCTCAGAGCCCATGCTGGCGAGCACC[T/C]GCTGCTCGGAGCCACCAAGAGATCCATGGT 23348805 chr20 43046726 43047400 ENSG00000229005 S chr20_43023143_43023530_11000_3:chr20_43024207_43024462_11000_1 2 chr20 43047102 43047103 CM133279 + 1 DM NULL HNF4A Hypoglycaemia: hyperinsulinaemic TGCTCAGAGCCCATGCTGGCGAGCACCTGC[T/C]GCTCGGAGCCACCAAGAGATCCATGGTGTT 23348805 chr20 43046726 43047400 ENSG00000229005 S chr20_43023143_43023530_11000_3:chr20_43024207_43024462_11000_1 2 chr20 43047135 43047138 CD136224 + 5 DM NULL HNF4A Diabetes: MODY1 TCGGAGCCACCAAGAGATCCATGGTGTTCA[AGGA/-]CGTGCTGCTCCTAGGTGAGGCGGCTGCCTG 23652628 chr20 43046726 43047400 ENSG00000229005 S chr20_43023143_43023530_11000_3:chr20_43024207_43024462_11000_1 2 chr20 43047140 43047141 CM133280 + 1 DM rs202105574 HNF4A Diabetes: MODY GCCACCAAGAGATCCATGGTGTTCAAGGAC[G/A]TGCTGCTCCTAGgtgaggcggctgcctgcc 23348805 chr20 43056600 43057800 ENSG00000229005 S chr20_43023143_43023530_11000_3:chr20_43024207_43024462_11000_1 2 chr20 43056999 43057000 CM068186 + 1 DM? rs200760863 HNF4A Diabetes: MODY ctgcagGGTCCCCCAGCGATGCACCCCATG[C/T]CCACCACCCCCTGCACCCTCACCTGATGCA 16946562 chr20 43056600 43057800 ENSG00000229005 S chr20_43023143_43023530_11000_3:chr20_43024207_43024462_11000_1 2 chr20 43057038 43057039 CM068185 + 1 DM? rs199956600 HNF4A Diabetes: MODY CCCTGCACCCTCACCTGATGCAGGAACATA[T/C]GGGAACCAACGTCATCGTTGCCAACACAAT 16946562 chr20 43056600 43057800 ENSG00000229005 S chr20_43023143_43023530_11000_3:chr20_43024207_43024462_11000_1 2 chr20 43057049 43057050 CM981904 + 1 DM rs137853337 HNF4A Diabetes: MODY1 CACCTGATGCAGGAACATATGGGAACCAAC[G/A]TCATCGTTGCCAACACAATGCCCACTCACC 9449683 chr20 43056600 43057800 ENSG00000229005 S chr20_43023143_43023530_11000_3:chr20_43024207_43024462_11000_1 2 chr20 43057055 43057056 CM1310369 + 1 DM rs377151067 HNF4A Diabetes: MODY ATGCAGGAACATATGGGAACCAACGTCATC[G/A]TTGCCAACACAATGCCCACTCACCTCAGCA 23771925 chr20 43104240 43105206 TTPAL S chr20_43038876_43039103_11100_3:chr20_43039889_43040146_11101_3 2 . -1 -1 . -1 . . . . . . . chr20 43538202 43540504 PABPC1L F chr20_43540159_43540419_10000_3 1 . -1 -1 . -1 . . . . . . . chr20 43539910 43540435 PABPC1L S chr20_43038876_43039103_11100_3:chr20_43039889_43040146_11101_3 2 . -1 -1 . -1 . . . . . . . chr20 43540233 43540373 PABPC1L F chr20_43540159_43540419_10000_3 1 . -1 -1 . -1 . . . . . . . chr20 43588320 43589349 TOMM34 S chr20_43038876_43039103_11100_3:chr20_43039889_43040146_11101_3 2 . -1 -1 . -1 . . . . . . . chr20 43594640 43595744 STK4 S chr20_43038876_43039103_11100_3:chr20_43039889_43040146_11101_3 2 . -1 -1 . -1 . . . . . . . chr20 43596220 43596403 STK4 F chr20_43594997_43595115_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 43598276 43598454 STK4 F chr20_43594997_43595115_11100_1:chr20_43597426_43597544_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 43948445 43949088 CTSA S chr20_44519785_44519995_11101_3 1 . -1 -1 . -1 . . . . . . . chr20 43948445 43949088 SYS1 S chr20_43991605_43991828_10100_1 1 . -1 -1 . -1 . . . . . . . chr20 43972786 43977564 SDC4 F chr20_43972521_43973099_11101_4 1 . -1 -1 . -1 . . . . . . . chr20 43972821 43973151 SDC4 F chr20_43972786_43973099_11101_4:chr20_43973776_43973891_11001_1:chr20_43976294_43976522_11000_1:chr20_43976917_43977079_11100_1 4 . -1 -1 . -1 . . . . . . . chr20 43991395 43992411 SYS1 S chr20_43038876_43039103_11100_3:chr20_43039889_43040146_11101_3:chr20_44555998_44556169_11000_1:chr20_44575059_44575307_11001_2 4 . -1 -1 . -1 . . . . . . . chr20 44452600 44453007 CTSA S chr20_44519785_44519995_11101_3 1 . -1 -1 . -1 . . . . . . . chr20 44453138 44453400 CTSA S chr20_44519785_44519995_11101_3 1 . -1 -1 . -1 . . . . . . . chr20 44509543 44510381 ZSWIM1 S chr20_45235935_45236171_10000_1:chr20_45236935_45237149_10000_2 2 . -1 -1 . -1 . . . . . . . chr20 44518731 44520655 CTSA S chr20_44555998_44556169_11000_1:chr20_44575059_44575307_11001_2:chr20_45235935_45236171_10000_1:chr20_45236935_45237149_10000_2:chr20_45269346_45269925_11000_3:chr20_45295611_45296013_10000_2:chr20_45299638_45299942_10000_4 7 chr20 44520267 44520268 CD043199 + 5 DM NULL CTSA Galactosialidosis CCTGCTGCTGCTGCTGCTGCTGCTGCTAGT[G/-]TCCTGGGCGTCCCGAGGCGAGGCAGCCCCC 15110321 chr20 44518731 44520655 CTSA S chr20_44555998_44556169_11000_1:chr20_44575059_44575307_11001_2:chr20_45235935_45236171_10000_1:chr20_45236935_45237149_10000_2:chr20_45269346_45269925_11000_3:chr20_45295611_45296013_10000_2:chr20_45299638_45299942_10000_4 7 chr20 44520319 44520320 CD962128 + 5 DM NULL CTSA Galactosialidosis GCAGCCCCCGACCAGGACGAGATCCAGCGC[C/-]TCCCCGGGCTGGCCAAGCAGCCGTCTTTCC 8968752 chr20 44518731 44520655 CTSA S chr20_44555998_44556169_11000_1:chr20_44575059_44575307_11001_2:chr20_45235935_45236171_10000_1:chr20_45236935_45237149_10000_2:chr20_45269346_45269925_11000_3:chr20_45295611_45296013_10000_2:chr20_45299638_45299942_10000_4 7 chr20 44520353 44520354 CM931195 + 1 DM rs137854541 CTSA Galactosialidosis CCGGGCTGGCCAAGCAGCCGTCTTTCCGCC[A/G]GTACTCCGGCTACCTCAAAGGCTCCGGCTC 8514852 chr20 44518731 44520655 CTSA S chr20_44555998_44556169_11000_1:chr20_44575059_44575307_11001_2:chr20_45235935_45236171_10000_1:chr20_45236935_45237149_10000_2:chr20_45269346_45269925_11000_3:chr20_45295611_45296013_10000_2:chr20_45299638_45299942_10000_4 7 chr20 44520359 44520360 CM961138 + 1 DM NULL CTSA Galactosialidosis TGGCCAAGCAGCCGTCTTTCCGCCAGTACT[C/A]CGGCTACCTCAAAGGCTCCGGCTCCAAGCA 8968752 chr20 44518731 44520655 CTSA S chr20_44555998_44556169_11000_1:chr20_44575059_44575307_11001_2:chr20_45235935_45236171_10000_1:chr20_45236935_45237149_10000_2:chr20_45269346_45269925_11000_3:chr20_45295611_45296013_10000_2:chr20_45299638_45299942_10000_4 7 chr20 44520400 44520401 CM931196 + 1 DM rs28934603 CTSA Galactosialidosis AAAGGCTCCGGCTCCAAGCACCTCCACTAC[T/C]Ggtctgccgccctgccttctgggcgggatt 8514852 chr20 44518731 44520655 CTSA S chr20_44555998_44556169_11000_1:chr20_44575059_44575307_11001_2:chr20_45235935_45236171_10000_1:chr20_45236935_45237149_10000_2:chr20_45269346_45269925_11000_3:chr20_45295611_45296013_10000_2:chr20_45299638_45299942_10000_4 7 chr20 44520613 44520614 CM033801 + 1 DM NULL CTSA Galactosialidosis AACAGCCCTGTGGTGCTTTGGCTCAATGGG[G/A]GTCCCGGCTGCAGCTCACTAGATGGGCTCC 12649068 chr20 44518731 44520655 CTSA S chr20_44555998_44556169_11000_1:chr20_44575059_44575307_11001_2:chr20_45235935_45236171_10000_1:chr20_45236935_45237149_10000_2:chr20_45269346_45269925_11000_3:chr20_45295611_45296013_10000_2:chr20_45299638_45299942_10000_4 7 chr20 44520614 44520615 CM088139 + 1 DM NULL CTSA Galactosialidosis ACAGCCCTGTGGTGCTTTGGCTCAATGGGG[G/T]TCCCGGCTGCAGCTCACTAGATGGGCTCCT 18937050 chr20 44518731 44520655 CTSA S chr20_44555998_44556169_11000_1:chr20_44575059_44575307_11001_2:chr20_45235935_45236171_10000_1:chr20_45236935_45237149_10000_2:chr20_45269346_45269925_11000_3:chr20_45295611_45296013_10000_2:chr20_45299638_45299942_10000_4 7 chr20 44520628 44520629 CP931382 + 4 DM NULL CTSA Galactosialidosis CTTTGGCTCAATGGGGGTCCCGGCTGCAGC[TC/CT]ACTAGATGGGCTCCTCACAGAGCATGGCCC 8514852 chr20 44518731 44520655 CTSA S chr20_44555998_44556169_11000_1:chr20_44575059_44575307_11001_2:chr20_45235935_45236171_10000_1:chr20_45236935_45237149_10000_2:chr20_45269346_45269925_11000_3:chr20_45295611_45296013_10000_2:chr20_45299638_45299942_10000_4 7 chr20 44520629 44520630 CM983752 + 1 DM rs137854542 CTSA Galactosialidosis TTTGGCTCAATGGGGGTCCCGGCTGCAGCT[C/T]ACTAGATGGGCTCCTCACAGAGCATGGCCC 9435242 chr20 44518731 44520655 CTSA S chr20_44555998_44556169_11000_1:chr20_44575059_44575307_11001_2:chr20_45235935_45236171_10000_1:chr20_45236935_45237149_10000_2:chr20_45269346_45269925_11000_3:chr20_45295611_45296013_10000_2:chr20_45299638_45299942_10000_4 7 chr20 44520653 44520654 CM137463 + 1 DM NULL CTSA Galactosialidosis GCAGCTCACTAGATGGGCTCCTCACAGAGC[A/G]TGGCCCCTTCCTGgtgagtggacagcaggg 23915561 chr20 44520847 44521232 CTSA S chr20_45235935_45236171_10000_1:chr20_45236935_45237149_10000_2 2 chr20 44521073 44521074 CM961139 + 1 DM rs137854545 CTSA Galactosialidosis AATGTGTTATACCTGGAGTCCCCAGCTGGG[G/A]TGGGCTTCTCCTACTCCGATGACAAGTTTT 8968752 chr20 44555800 44556850 CTSA S chr20_44519785_44519995_11101_3 1 . -1 -1 . -1 . . . . . . . chr20 44555800 44556850 SYS1 S chr20_43991605_43991828_10100_1 1 . -1 -1 . -1 . . . . . . . chr20 44562243 44564318 PCIF1 S chr20_45235935_45236171_10000_1:chr20_45236935_45237149_10000_2 2 . -1 -1 . -1 . . . . . . . chr20 44574516 44575700 CTSA S chr20_44519785_44519995_11101_3 1 . -1 -1 . -1 . . . . . . . chr20 44574516 44575700 SYS1 S chr20_43991605_43991828_10100_1 1 . -1 -1 . -1 . . . . . . . chr20 44599726 44601435 ZNF335 S chr20_45235935_45236171_10000_1:chr20_45236935_45237149_10000_2 2 . -1 -1 . -1 . . . . . . . chr20 44642200 44642797 NCOA5 S chr20_44718528_44718738_10000_3 1 chr20 44642406 44642407 CM064121 + 1 DP rs2250889 MMP9 Leukemia: risk: association with CCCGCAAGCTGGACTCGGTCTTTGAGGAGC[G/C]GCTCTCCAAGAAGCTTTTCTTCTTCTCTGg 16574953 chr20 44717652 44718885 NCOA5 S chr20_45235935_45236171_10000_1:chr20_45236935_45237149_10000_2 2 . -1 -1 . -1 . . . . . . . chr20 44992266 44993392 SLC35C2 S chr20_45235935_45236171_10000_1:chr20_45236935_45237149_10000_2 2 . -1 -1 . -1 . . . . . . . chr20 45235434 45237356 CTSA S chr20_44519785_44519995_11101_3 1 . -1 -1 . -1 . . . . . . . chr20 45235434 45237356 NCOA3 S chr20_46130425_46130612_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 45235434 45237356 NCOA5 S chr20_44718528_44718738_10000_3 1 . -1 -1 . -1 . . . . . . . chr20 45235434 45237356 PCIF1 S chr20_44563842_44564064_11101_2 1 . -1 -1 . -1 . . . . . . . chr20 45235434 45237356 SLC35C2 S chr20_44992547_44992744_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 45235434 45237356 ZMYND8 S chr20_45987824_45988538_10000_2 1 . -1 -1 . -1 . . . . . . . chr20 45259770 45261074 CTSA S chr20_44519785_44519995_11101_3 1 . -1 -1 . -1 . . . . . . . chr20 45259770 45261074 NCOA3 S chr20_46130425_46130612_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 45259770 45261074 ZMYND8 S chr20_45987824_45988538_10000_2 1 . -1 -1 . -1 . . . . . . . chr20 45266118 45267708 CTSA S chr20_44519785_44519995_11101_3 1 . -1 -1 . -1 . . . . . . . chr20 45268800 45270235 CTSA S chr20_44519785_44519995_11101_3 1 . -1 -1 . -1 . . . . . . . chr20 45279589 45280434 SLC13A3 S chr20_45235935_45236171_10000_1:chr20_45236935_45237149_10000_2 2 . -1 -1 . -1 . . . . . . . chr20 45295159 45296462 CTSA S chr20_44519785_44519995_11101_3 1 . -1 -1 . -1 . . . . . . . chr20 45298855 45300503 CTSA S chr20_44519785_44519995_11101_3 1 . -1 -1 . -1 . . . . . . . chr20 45309787 45310073 CTSA S chr20_44519785_44519995_11101_3 1 . -1 -1 . -1 . . . . . . . chr20 45336833 45337200 SLC2A10 S chr20_46093242_46093491_11000_4 1 . -1 -1 . -1 . . . . . . . chr20 45861400 45863340 NCOA3 S chr20_46130425_46130612_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 45985105 45988661 ZMYND8 S chr20_45235935_45236171_10000_1:chr20_45236935_45237149_10000_2:chr20_46093242_46093491_11000_4 3 . -1 -1 . -1 . . . . . . . chr20 46092855 46094158 NCOA3 S chr20_46130425_46130612_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 46092855 46094158 ZMYND8 S chr20_45987824_45988538_10000_2 1 . -1 -1 . -1 . . . . . . . chr20 46130043 46131329 NCOA3 S chr20_45235935_45236171_10000_1:chr20_45236935_45237149_10000_2:chr20_45862208_45862489_10000_2:chr20_46093242_46093491_11000_4 4 . -1 -1 . -1 . . . . . . . chr20 47001388 47003175 DDX27 S chr20_47835732_47836024_11101_2 1 . -1 -1 . -1 . . . . . . . chr20 47001388 47003175 NCOA3 S chr20_46130425_46130612_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 47001388 47003175 ZNFX1 S chr20_47894982_47895145_11000_1 1 . -1 -1 . -1 . . . . . . . chr20 47668800 47669583 ZNFX1 S chr20_47894982_47895145_11000_1 1 . -1 -1 . -1 . . . . . . . chr20 47803381 47804147 STAU1 F chr20_47803629_47803786_11000_1 1 . -1 -1 . -1 . . . . . . . chr20 47803564 47805404 STAU1 F chr20_47803629_47803786_11000_1 1 . -1 -1 . -1 . . . . . . . chr20 47833700 47834010 DDX27 S chr20_48526106_48526444_11100_2 1 . -1 -1 . -1 . . . . . . . chr20 47893075 47893400 ZNFX1 F chr20_47894982_47895145_11000_1 1 . -1 -1 . -1 . . . . . . . chr20 47893639 47895200 ZNFX1 S chr20_48754775_48755018_10000_2:chr20_48755552_48755984_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 47903600 47904557 ARFGEF2 S chr20_47538161_47538302_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 47903600 47904557 CEBPB S chr20_48805585_48805945_11101_2:chr20_48806937_48807052_11101_1:chr20_48807271_48807494_11001_1:chr20_48808847_48809007_11101_2 4 . -1 -1 . -1 . . . . . . . chr20 47903600 47904557 RNF114 S chr20_48552687_48552966_10000_3:chr20_48553299_48553480_11000_1 2 . -1 -1 . -1 . . . . . . . chr20 47903600 47904557 SPATA2 S chr20_48532214_48532403_11000_1:chr20_48532945_48533343_10000_4 2 . -1 -1 . -1 . . . . . . . chr20 47903600 47904557 ZNFX1 S chr20_47894982_47895145_11000_1 1 . -1 -1 . -1 . . . . . . . chr20 48327368 48328064 B4GALT5 F chr20_48328194_48328347_11000_1 1 . -1 -1 . -1 . . . . . . . chr20 48327516 48330921 B4GALT5 F chr20_48328194_48328347_11000_1 1 . -1 -1 . -1 . . . . . . . chr20 48388380 48389363 CEBPB S chr20_48805585_48805945_11101_2:chr20_48806937_48807052_11101_1:chr20_48807271_48807494_11001_1:chr20_48808847_48809007_11101_2 4 . -1 -1 . -1 . . . . . . . chr20 48526106 48526444 CEBPB S chr20_48805585_48805945_11101_2:chr20_48806937_48807052_11101_1:chr20_48807271_48807494_11001_1:chr20_48808847_48809007_11101_2 4 . -1 -1 . -1 . . . . . . . chr20 48529775 48533205 SPATA2 F chr20_48532945_48533343_10000_4 1 . -1 -1 . -1 . . . . . . . chr20 48531579 48533205 SPATA2 F chr20_48532945_48533343_10000_4 1 . -1 -1 . -1 . . . . . . . chr20 48532841 48533167 SPATA2 F chr20_48532214_48532403_11000_1:chr20_48532214_48532403_11000_1:chr20_48532945_48533205_10000_4:chr20_48532945_48533205_10000_4 4 . -1 -1 . -1 . . . . . . . chr20 48533898 48534043 SPATA2 F chr20_48532214_48532403_11000_1:chr20_48532945_48533343_10000_4 2 . -1 -1 . -1 . . . . . . . chr20 48562000 48562243 CEBPB S chr20_48805585_48805945_11101_2:chr20_48806937_48807052_11101_1:chr20_48807271_48807494_11001_1:chr20_48808847_48809007_11101_2 4 . -1 -1 . -1 . . . . . . . chr20 48562335 48563000 CEBPB S chr20_48805585_48805945_11101_2:chr20_48806937_48807052_11101_1:chr20_48807271_48807494_11001_1:chr20_48808847_48809007_11101_2 4 . -1 -1 . -1 . . . . . . . chr20 48754737 48755984 CEBPB S chr20_48805585_48805945_11101_2:chr20_48806937_48807052_11101_1:chr20_48807271_48807494_11001_1:chr20_48808847_48809007_11101_2 4 . -1 -1 . -1 . . . . . . . chr20 48754737 48755984 ZNFX1 S chr20_47894982_47895145_11000_1 1 . -1 -1 . -1 . . . . . . . chr20 48803978 48807620 CEBPB F chr20_48804070_48804285_11001_2 1 . -1 -1 . -1 . . . . . . . chr20 48804007 48804349 CEBPB F chr20_48804070_48804285_11001_2:chr20_48805585_48805945_11101_2:chr20_48806937_48807052_11101_1:chr20_48807271_48807494_11001_1 4 . -1 -1 . -1 . . . . . . . chr20 48805445 48809096 CEBPB S chr20_48388380_48388414_11000_1:chr20_48388897_48389244_11000_3:chr20_48526106_48526444_11100_2:chr20_48754775_48755018_10000_2:chr20_48755552_48755984_10000_1:chr20_49022400_49022429_11000_3:chr20_49023386_49023563_10000_1:chr20_49362997_49363265_11000_2:chr20_49404644_49404812_10000_3 9 . -1 -1 . -1 . . . . . . . chr20 48806619 48811231 CEBPB F chr20_48810668_48810813_11101_1 1 . -1 -1 . -1 . . . . . . . chr20 48809447 48810205 CEBPB F chr20_48806937_48807052_11101_1:chr20_48807271_48807494_11001_1:chr20_48808847_48809007_11101_2 3 . -1 -1 . -1 . . . . . . . chr20 48810888 48811172 CEBPB F chr20_48806937_48807052_11101_1:chr20_48807271_48807494_11001_1:chr20_48808847_48809007_11101_2:chr20_48810668_48810813_11101_1 4 . -1 -1 . -1 . . . . . . . chr20 48895550 48895943 ENSG00000224397 S chr20_49279748_49280110_11000_3 1 . -1 -1 . -1 . . . . . . . chr20 49022400 49023595 CEBPB S chr20_48805585_48805945_11101_2:chr20_48806937_48807052_11101_1:chr20_48807271_48807494_11001_1:chr20_48808847_48809007_11101_2 4 . -1 -1 . -1 . . . . . . . chr20 49094963 49095056 COX6CP2 S chr20_49279748_49280110_11000_3 1 . -1 -1 . -1 . . . . . . . chr20 49252693 49254124 CEBPB S chr20_48805585_48805945_11101_2:chr20_48806937_48807052_11101_1:chr20_48807271_48807494_11001_1:chr20_48808847_48809007_11101_2 4 . -1 -1 . -1 . . . . . . . chr20 49279462 49280110 ENSG00000224397 S chr20_48895550_48895784_10000_2 1 . -1 -1 . -1 . . . . . . . chr20 49345638 49345902 PARD6B F chr20_49347628_49348130_11101_3 1 . -1 -1 . -1 . . . . . . . chr20 49362600 49363487 CEBPB S chr20_48805585_48805945_11101_2:chr20_48806937_48807052_11101_1:chr20_48807271_48807494_11001_1:chr20_48808847_48809007_11101_2 4 . -1 -1 . -1 . . . . . . . chr20 49404600 49405504 CEBPB S chr20_48805585_48805945_11101_2:chr20_48806937_48807052_11101_1:chr20_48807271_48807494_11001_1:chr20_48808847_48809007_11101_2 4 . -1 -1 . -1 . . . . . . . chr20 50178667 50180639 NFATC2 F chr20_50180083_50180311_11000_2 1 . -1 -1 . -1 . . . . . . . chr20 50180369 50180507 NFATC2 F chr20_50180083_50180311_11000_2 1 . -1 -1 . -1 . . . . . . . chr20 50383575 50384083 ATP9A F chr20_50383680_50383812_10000_1:chr20_50384481_50384606_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 50383629 50385408 ATP9A F chr20_50383680_50383812_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 50416543 50419548 SALL4 F chr20_50416821_50417049_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 50416703 50416783 SALL4 F chr20_50416821_50417049_10000_1:chr20_50419051_50419218_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 50416861 50417288 SALL4 F chr20_50416874_50417049_10000_1:chr20_50419051_50419218_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 50416874 50419548 SALL4 F chr20_50416821_50417049_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 51591897 51592288 TSHZ2 F chr20_51588795_51589084_10000_3:chr20_51590734_51590993_10100_2 2 . -1 -1 . -1 . . . . . . . chr20 52195328 52200136 ZNF217 F chr20_52195409_52196014_11000_4 1 . -1 -1 . -1 . . . . . . . chr20 52195343 52195714 ZNF217 F chr20_52195409_52196466_11000_4:chr20_52199621_52199758_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 52195908 52196455 ZNF217 F chr20_52195981_52196466_11000_4:chr20_52199621_52199758_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 52195981 52200136 ZNF217 F chr20_52195608_52196466_11000_4 1 . -1 -1 . -1 . . . . . . . chr20 52196527 52200136 ZNF217 F chr20_52196293_52196466_11000_4 1 . -1 -1 . -1 . . . . . . . chr20 52196593 52196861 ZNF217 F chr20_52199621_52199758_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 52197853 52198800 ZNF217 S chr20_52199621_52199758_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 52198800 52200600 PFDN4 S chr20_52824426_52824536_10100_1 1 . -1 -1 . -1 . . . . . . . chr20 52201463 52201802 ZNF217 F chr20_52199621_52199758_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 52209005 52210923 ZNF217 S chr20_52380397_52380831_11000_4 1 . -1 -1 . -1 . . . . . . . chr20 52379764 52381225 PFDN4 S chr20_52824426_52824536_10100_1 1 . -1 -1 . -1 . . . . . . . chr20 52824129 52825491 PFDN4 S chr20_52199621_52199758_10000_1:chr20_52380397_52380831_11000_4 2 . -1 -1 . -1 . . . . . . . chr20 54937921 54938113 C20orf108 F chr20_54935478_54935640_11000_1 1 . -1 -1 . -1 . . . . . . . chr20 54984612 54987668 CASS4 F chr20_54984734_54984910_11000_2 1 . -1 -1 . -1 . . . . . . . chr20 54984612 54987814 CASS4 F chr20_54984734_54984910_11000_2 1 . -1 -1 . -1 . . . . . . . chr20 54984681 54984944 CASS4 F chr20_54984734_54984910_11000_2:chr20_54984734_54984910_11000_2:chr20_54986955_54987551_11100_2:chr20_54986955_54987551_11100_2 4 . -1 -1 . -1 . . . . . . . chr20 60639199 60639598 TAF4 S chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 60696457 60698518 LSM14B S chr20_60730440_60730635_11000_2:chr20_60928685_60928797_10000_1:chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1:chr20_61454309_61454362_10000_1:chr20_61531977_61532000_10000_1 6 . -1 -1 . -1 . . . . . . . chr20 60698979 60699200 LSM14B S chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 60716000 60716173 PSMA7 S chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 60716265 60716676 PSMA7 S chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 60716862 60717433 PSMA7 S chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1:chr20_61454309_61454362_10000_1:chr20_61531977_61532000_10000_1 4 . -1 -1 . -1 . . . . . . . chr20 60717525 60719043 PSMA7 S chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1:chr20_61454309_61454362_10000_1 3 . -1 -1 . -1 . . . . . . . chr20 60730233 60731283 ADRM1 S chr20_60876937_60877227_11000_2:chr20_60877826_60877953_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 60730233 60731283 LSM14B S chr20_60697177_60697342_11000_2 1 . -1 -1 . -1 . . . . . . . chr20 60731375 60731400 ADRM1 S chr20_60876937_60877227_11000_2:chr20_60877826_60877953_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 60784767 60785753 ADRM1 S chr20_60876937_60877227_11000_2:chr20_60877826_60877953_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 60813013 60814845 OSBPL2 S chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1:chr20_61454309_61454362_10000_1 3 . -1 -1 . -1 . . . . . . . chr20 60876896 60878800 ADRM1 S chr20_60730440_60730635_11000_2:chr20_60928685_60928797_10000_1:chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1:chr20_61454309_61454362_10000_1:chr20_61531977_61532000_10000_1 6 . -1 -1 . -1 . . . . . . . chr20 60928400 60929391 ADRM1 S chr20_60876937_60877227_11000_2:chr20_60877826_60877953_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 60928400 60929391 LSM14B S chr20_60697177_60697342_11000_2 1 . -1 -1 . -1 . . . . . . . chr20 60939635 60939778 LAMA5 F chr20_60941716_60941841_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 60940876 60941209 LAMA5 F chr20_60941716_60941841_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 60941104 60944566 LAMA5 S chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 60941439 60942868 LAMA5 F chr20_60941716_60941841_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 60941528 60941750 LAMA5 F chr20_60941716_60941841_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 60961004 60963263 RPS21 S chr20_60730440_60730635_11000_2:chr20_60928685_60928797_10000_1:chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1 4 . -1 -1 . -1 . . . . . . . chr20 61283023 61283307 ADRM1 S chr20_60876937_60877227_11000_2:chr20_60877826_60877953_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 61283023 61283307 LSM14B S chr20_60697177_60697342_11000_2 1 . -1 -1 . -1 . . . . . . . chr20 61283023 61283307 SLC17A9 S chr20_61583817_61584147_11101_1:chr20_61586291_61586376_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 61283424 61284400 ADRM1 S chr20_60876937_60877227_11000_2:chr20_60877826_60877953_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 61283424 61284400 DIDO1 S chr20_61555345_61555518_11101_2:chr20_61555725_61555974_11101_1:chr20_61556270_61556457_11101_1:chr20_61569189_61569391_10101_1 4 . -1 -1 . -1 . . . . . . . chr20 61283424 61284400 GMEB2 S chr20_62259715_62259876_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 61283424 61284400 LAMA5 S chr20_60941716_60941841_10000_1:chr20_60943665_60943867_10000_1:chr20_60944188_60944361_10100_1 3 . -1 -1 . -1 . . . . . . . chr20 61283424 61284400 LSM14B S chr20_60697177_60697342_11000_2 1 . -1 -1 . -1 . . . . . . . chr20 61283424 61284400 OGFR S chr20_61437271_61437816_11000_3 1 . -1 -1 . -1 . . . . . . . chr20 61283424 61284400 OSBPL2 S chr20_60813168_60813397_11101_3 1 . -1 -1 . -1 . . . . . . . chr20 61283424 61284400 PSMA7 S chr20_60717103_60717310_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 61283424 61284400 SLC17A9 S chr20_61583817_61584147_11101_1:chr20_61586291_61586376_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 61283424 61284400 TAF4 S chr20_60639351_60639481_11100_1 1 . -1 -1 . -1 . . . . . . . chr20 61283424 61284400 YTHDF1 S chr20_61847547_61847743_10100_1 1 . -1 -1 . -1 . . . . . . . chr20 61297480 61299367 SLCO4A1 S chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1:chr20_61454309_61454362_10000_1:chr20_61531977_61532000_10000_1 4 . -1 -1 . -1 . . . . . . . chr20 61299830 61300648 SLCO4A1 S chr20_61454309_61454362_10000_1:chr20_61531977_61532000_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 61428973 61429200 MRGBP S chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1:chr20_62365806_62366105_10000_3:chr20_62366802_62367159_10000_1:chr20_62367630_62367979_10000_1 5 . -1 -1 . -1 . . . . . . . chr20 61436824 61437816 OGFR S chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1:chr20_61531977_61532000_10000_1:chr20_62365806_62366105_10000_3:chr20_62366802_62367159_10000_1:chr20_62367630_62367979_10000_1 6 . -1 -1 . -1 . . . . . . . chr20 61438237 61438600 OGFR S chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1:chr20_62365806_62366105_10000_3:chr20_62366802_62367159_10000_1:chr20_62367630_62367979_10000_1 5 . -1 -1 . -1 . . . . . . . chr20 61446283 61446600 ARFRP1 S chr20_62339102_62339439_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 61454309 61454600 ADRM1 S chr20_60876937_60877227_11000_2:chr20_60877826_60877953_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 61454309 61454600 ARFRP1 S chr20_62339102_62339439_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 61454309 61454600 GMEB2 S chr20_62259715_62259876_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 61454309 61454600 LSM14B S chr20_60697177_60697342_11000_2 1 . -1 -1 . -1 . . . . . . . chr20 61454309 61454600 OSBPL2 S chr20_60813168_60813397_11101_3 1 . -1 -1 . -1 . . . . . . . chr20 61454309 61454600 PSMA7 S chr20_60717103_60717310_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 61454309 61454600 SLC2A4RG S chr20_62369296_62369746_10000_1:chr20_62370593_62370815_10000_2:chr20_62372183_62372766_10000_2 3 . -1 -1 . -1 . . . . . . . chr20 61454309 61454600 YTHDF1 S chr20_61847547_61847743_10100_1 1 . -1 -1 . -1 . . . . . . . chr20 61531800 61532000 ADRM1 S chr20_60876937_60877227_11000_2:chr20_60877826_60877953_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 61531800 61532000 ARFRP1 S chr20_62339102_62339439_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 61531800 61532000 LSM14B S chr20_60697177_60697342_11000_2 1 . -1 -1 . -1 . . . . . . . chr20 61531800 61532000 OGFR S chr20_61437271_61437816_11000_3 1 . -1 -1 . -1 . . . . . . . chr20 61531800 61532000 PSMA7 S chr20_60717103_60717310_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 61531800 61532000 SLC17A9 S chr20_61583817_61584147_11101_1:chr20_61586291_61586376_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 61531800 61532000 SLC2A4RG S chr20_62369296_62369746_10000_1:chr20_62370593_62370815_10000_2:chr20_62372183_62372766_10000_2 3 . -1 -1 . -1 . . . . . . . chr20 61531800 61532000 YTHDF1 S chr20_61847547_61847743_10100_1 1 . -1 -1 . -1 . . . . . . . chr20 61545861 61546128 DIDO1 S chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1:chr20_62365806_62366105_10000_3:chr20_62366802_62367159_10000_1:chr20_62367630_62367979_10000_1 5 . -1 -1 . -1 . . . . . . . chr20 61546220 61546781 DIDO1 S chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 61553883 61554120 DIDO1 F chr20_61555294_61555518_11101_2:chr20_61555725_61555974_11101_1:chr20_61556270_61556457_11101_1 3 . -1 -1 . -1 . . . . . . . chr20 61554875 61554902 DIDO1 F chr20_61555294_61555518_11101_2:chr20_61555725_61555974_11101_1:chr20_61556270_61556457_11101_1 3 . -1 -1 . -1 . . . . . . . chr20 61555345 61556628 DIDO1 S chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 61555881 61556606 DIDO1 F chr20_61556270_61556457_11101_1 1 . -1 -1 . -1 . . . . . . . chr20 61556043 61558403 DIDO1 F chr20_61555725_61555974_11101_1:chr20_61556270_61556457_11101_1 2 . -1 -1 . -1 . . . . . . . chr20 61556720 61558579 DIDO1 S chr20_60730440_60730635_11000_2:chr20_60928685_60928797_10000_1:chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1:chr20_61454309_61454362_10000_1:chr20_61531977_61532000_10000_1:chr20_62365806_62366105_10000_3:chr20_62366802_62367159_10000_1:chr20_62367630_62367979_10000_1 9 . -1 -1 . -1 . . . . . . . chr20 61567418 61567518 DIDO1 S chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1:chr20_62365806_62366105_10000_3:chr20_62366802_62367159_10000_1:chr20_62367630_62367979_10000_1 5 . -1 -1 . -1 . . . . . . . chr20 61568108 61570424 DIDO1 S chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 61583633 61586376 SLC17A9 S chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1:chr20_61531977_61532000_10000_1:chr20_62365806_62366105_10000_3:chr20_62366802_62367159_10000_1:chr20_62367630_62367979_10000_1 6 . -1 -1 . -1 . . . . . . . chr20 61585554 61585775 SLC17A9 F chr20_61583817_61584147_11101_1 1 . -1 -1 . -1 . . . . . . . chr20 61640200 61640506 ADRM1 S chr20_60876937_60877227_11000_2:chr20_60877826_60877953_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 61640200 61640506 ARFRP1 S chr20_62339102_62339439_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 61640200 61640506 SLC2A4RG S chr20_62369296_62369746_10000_1:chr20_62370593_62370815_10000_2:chr20_62372183_62372766_10000_2 3 . -1 -1 . -1 . . . . . . . chr20 61640506 61640673 BHLHE23 S chr20_61531977_61532000_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 61640673 61642157 ADRM1 S chr20_60876937_60877227_11000_2:chr20_60877826_60877953_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 61640673 61642157 ARFRP1 S chr20_62339102_62339439_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 61640673 61642157 SLC2A4RG S chr20_62369296_62369746_10000_1:chr20_62370593_62370815_10000_2:chr20_62372183_62372766_10000_2 3 . -1 -1 . -1 . . . . . . . chr20 61846442 61848143 YTHDF1 S chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1:chr20_61454309_61454362_10000_1:chr20_61531977_61532000_10000_1:chr20_62365806_62366105_10000_3:chr20_62366802_62367159_10000_1:chr20_62367630_62367979_10000_1 7 . -1 -1 . -1 . . . . . . . chr20 61903435 61905514 NKAIN4 S chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1:chr20_62365806_62366105_10000_3:chr20_62366802_62367159_10000_1:chr20_62367630_62367979_10000_1 5 . -1 -1 . -1 . . . . . . . chr20 61906169 61906441 NKAIN4 S chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1:chr20_62365806_62366105_10000_3:chr20_62366802_62367159_10000_1:chr20_62367630_62367979_10000_1 5 . -1 -1 . -1 . . . . . . . chr20 62127686 62128116 SLC2A4RG S chr20_62369296_62369746_10000_1:chr20_62370593_62370815_10000_2:chr20_62372183_62372766_10000_2 3 . -1 -1 . -1 . . . . . . . chr20 62170184 62170345 PTK6 F chr20_62169149_62169460_10100_2 1 . -1 -1 . -1 . . . . . . . chr20 62255856 62256226 ARFRP1 S chr20_62339102_62339439_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 62255856 62256226 UCKL1 S chr20_62587241_62587479_11100_1:chr20_62587640_62588247_11101_2 2 . -1 -1 . -1 . . . . . . . chr20 62257320 62260023 GMEB2 S chr20_61283486_61283710_10000_2:chr20_61284093_61284243_10000_1:chr20_61454309_61454362_10000_1 3 . -1 -1 . -1 . . . . . . . chr20 62338183 62340317 ARFRP1 S chr20_61454309_61454362_10000_1:chr20_61531977_61532000_10000_1:chr20_62255875_62256059_10000_1:chr20_62365806_62366105_10000_3:chr20_62366802_62367159_10000_1:chr20_62367630_62367979_10000_1:chr20_62655108_62655226_11000_1 7 . -1 -1 . -1 . . . . . . . chr20 62365626 62368200 ARFRP1 S chr20_62339102_62339439_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 62365626 62368200 DNAJC5 S chr20_62528122_62528335_11000_2 1 . -1 -1 . -1 . . . . . . . chr20 62365626 62368200 OGFR S chr20_61437271_61437816_11000_3 1 . -1 -1 . -1 . . . . . . . chr20 62365626 62368200 PRPF6 S chr20_62612347_62612502_11101_2 1 . -1 -1 . -1 . . . . . . . chr20 62365626 62368200 SLC17A9 S chr20_61583817_61584147_11101_1:chr20_61586291_61586376_10000_1 2 . -1 -1 . -1 . . . . . . . chr20 62365626 62368200 SLC2A4RG S chr20_62369296_62369746_10000_1:chr20_62370593_62370815_10000_2:chr20_62372183_62372766_10000_2 3 . -1 -1 . -1 . . . . . . . chr20 62365626 62368200 UCKL1 S chr20_62587241_62587479_11100_1:chr20_62587640_62588247_11101_2 2 . -1 -1 . -1 . . . . . . . chr20 62365626 62368200 YTHDF1 S chr20_61847547_61847743_10100_1 1 . -1 -1 . -1 . . . . . . . chr20 62365626 62368200 ZNF512B S chr20_62600325_62600550_11101_2 1 . -1 -1 . -1 . . . . . . . chr20 62368200 62373130 SLC2A4RG S chr20_61454309_61454362_10000_1:chr20_61531977_61532000_10000_1:chr20_62365806_62366105_10000_3:chr20_62366802_62367159_10000_1:chr20_62367630_62367979_10000_1 5 . -1 -1 . -1 . . . . . . . chr20 62413628 62413874 ARFRP1 S chr20_62339102_62339439_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 62451243 62451600 ARFRP1 S chr20_62339102_62339439_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 62525954 62527991 DNAJC5 F chr20_62528122_62528335_11000_2 1 . -1 -1 . -1 . . . . . . . chr20 62527317 62528264 DNAJC5 F chr20_62526357_62526468_10101_1 1 . -1 -1 . -1 . . . . . . . chr20 62527624 62528336 DNAJC5 S chr20_62365806_62366105_10000_3:chr20_62366802_62367159_10000_1:chr20_62367630_62367979_10000_1 3 . -1 -1 . -1 . . . . . . . chr20 62580000 62581600 UCKL1 S chr20_62365806_62366105_10000_3:chr20_62366802_62367159_10000_1:chr20_62367630_62367979_10000_1:chr20_62655108_62655226_11000_1 4 . -1 -1 . -1 . . . . . . . chr20 62586581 62589600 UCKL1 S chr20_62255875_62256059_10000_1:chr20_62365806_62366105_10000_3:chr20_62366802_62367159_10000_1:chr20_62367630_62367979_10000_1:chr20_62655108_62655226_11000_1 5 . -1 -1 . -1 . . . . . . . chr20 62599609 62599938 ZNF512B S chr20_62365806_62366105_10000_3:chr20_62366802_62367159_10000_1:chr20_62367630_62367979_10000_1 3 . -1 -1 . -1 . . . . . . . chr20 62600174 62601804 ZNF512B S chr20_62365806_62366105_10000_3:chr20_62366802_62367159_10000_1:chr20_62367630_62367979_10000_1:chr20_62655108_62655226_11000_1 4 . -1 -1 . -1 . . . . . . . chr20 62610709 62613051 PRPF6 S chr20_62365806_62366105_10000_3:chr20_62366802_62367159_10000_1:chr20_62367630_62367979_10000_1 3 . -1 -1 . -1 . . . . . . . chr20 62654054 62655400 ARFRP1 S chr20_62339102_62339439_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 62654054 62655400 UCKL1 S chr20_62587241_62587479_11100_1:chr20_62587640_62588247_11101_2 2 . -1 -1 . -1 . . . . . . . chr20 62654054 62655400 ZNF512B S chr20_62600325_62600550_11101_2 1 . -1 -1 . -1 . . . . . . . chr20 62666600 62667000 ARFRP1 S chr20_62339102_62339439_10000_1 1 . -1 -1 . -1 . . . . . . . chr20 62666600 62667000 UCKL1 S chr20_62587241_62587479_11100_1:chr20_62587640_62588247_11101_2 2 . -1 -1 . -1 . . . . . . . chr20 62666600 62667000 ZNF512B S chr20_62600325_62600550_11101_2 1 . -1 -1 . -1 . . . . . . . chr20 62667000 62669377 LINC00176 S chr20_62365806_62366105_10000_3:chr20_62366802_62367159_10000_1:chr20_62367630_62367979_10000_1:chr20_62655108_62655226_11000_1 4 . -1 -1 . -1 . . . . . . . chr20 62714330 62714905 SLC2A4RG S chr20_62369296_62369746_10000_1:chr20_62370593_62370815_10000_2:chr20_62372183_62372766_10000_2 3 . -1 -1 . -1 . . . . . . . chr20 62870400 62870578 ARFRP1 S chr20_62339102_62339439_10000_1 1 . -1 -1 . -1 . . . . . . . chr21 16435476 16437626 NRIP1 F chr21_16435418_16435620_11101_1:chr21_16436137_16436173_10001_1 2 . -1 -1 . -1 . . . . . . . chr21 16435480 16435873 NRIP1 F chr21_16435476_16435620_11101_1:chr21_16436137_16436268_10001_1:chr21_16437286_16437509_11101_2 3 . -1 -1 . -1 . . . . . . . chr21 17103695 17103792 USP25 F chr21_17103147_17103252_10000_1 1 . -1 -1 . -1 . . . . . . . chr21 17104761 17105053 USP25 F chr21_17103147_17103252_10000_1 1 . -1 -1 . -1 . . . . . . . chr21 28217227 28219188 ADAMTS1 F chr21_28218445_28218561_10000_1 1 . -1 -1 . -1 . . . . . . . chr21 28218728 28219247 ADAMTS1 F chr21_28217655_28217828_10000_2:chr21_28218445_28218561_10000_1 2 . -1 -1 . -1 . . . . . . . chr21 28336800 28337144 ADAMTS5 F chr21_28339658_28339816_11101_1 1 . -1 -1 . -1 . . . . . . . chr21 30669062 30671720 BACH1 F chr21_30668925_30669035_11000_1 1 . -1 -1 . -1 . . . . . . . chr21 30669062 30672237 BACH1 F chr21_30668925_30669035_11000_1 1 . -1 -1 . -1 . . . . . . . chr21 30669074 30669451 BACH1 F chr21_30670211_30670321_11000_1:chr21_30670211_30670321_11000_1:chr21_30671130_30671322_11000_1:chr21_30671130_30671322_11000_1:chr21_30671944_30672152_11000_1 5 . -1 -1 . -1 . . . . . . . chr21 33105563 33105881 SCAF4 F chr21_33104578_33104916_11100_1 1 . -1 -1 . -1 . . . . . . . chr21 34773380 34773606 IFNGR2 F chr21_34774709_34774866_11000_1 1 . -1 -1 . -1 . . . . . . . chr21 36257911 36258724 RUNX1 F chr21_36258524_36258689_10100_1:chr21_36260531_36260644_10000_1:chr21_36260987_36261205_11101_1 3 . -1 -1 . -1 . . . . . . . chr21 36258117 36261487 RUNX1 F chr21_36258524_36258689_10100_1 1 chr21 36259139 36259140 CS086072 - 2 DM NULL RUNX1 Platelet disorder: familial TGCAACAAGACCCTGCCCATCGCTTTCAAG[G/A]tactggcccggagagggtggtgggaggaca 18723428 chr21 36258117 36261487 RUNX1 F chr21_36258524_36258689_10100_1 1 chr21 36259139 36259140 CS1312705 - 2 DM NULL RUNX1 Platelet dense granule secretion defect: excessive bleeding TGCAACAAGACCCTGCCCATCGCTTTCAAG[G/T]tactggcccggagagggtggtgggaggaca 24100448 chr21 36258117 36261487 RUNX1 F chr21_36258524_36258689_10100_1 1 chr21 36259163 36259164 CM025982 - 1 DM rs121912498 RUNX1 Platelet disorder: familial TCCGTGCTGCCTACGCACTGGCGCTGCAAC[A/G]AGACCCTGCCCATCGCTTTCAAGgtactgg 11830488 chr21 36258117 36261487 RUNX1 F chr21_36258524_36258689_10100_1 1 chr21 36259174 36259175 CM1312706 - 1 DM NULL RUNX1 Platelet dense granule secretion defect: excessive bleeding ACTTCCTCTGCTCCGTGCTGCCTACGCACT[G/A]GCGCTGCAACAAGACCCTGCCCATCGCTTT 24100448 chr21 36258117 36261487 RUNX1 F chr21_36258524_36258689_10100_1 1 chr21 36259327 36259328 CI086070 - 6 DM NULL RUNX1 Platelet disorder: familial CCGCGCTGAGCCCAGGCAAGATGAGCGAGG[-/G]CGTTGCCGCTGGGCGCCCCGGACGCCGGCG 18723428 chr21 36258117 36261487 RUNX1 F chr21_36258524_36258689_10100_1 1 chr21 36259336 36259337 CM137027 - 1 DM? rs200431130 RUNX1 Acute myeloid leukaemia CGCCTTCCACCGCGCTGAGCCCAGGCAAGA[T/A]GAGCGAGGCGTTGCCGCTGGGCGCCCCGGA 23753029 chr21 36263020 36263336 RUNX1 F chr21_36260531_36260644_10000_1:chr21_36260987_36261205_11101_1 2 . -1 -1 . -1 . . . . . . . chr21 36421094 36423950 RUNX1 F chr21_36423661_36424045_10000_3 1 . -1 -1 . -1 . . . . . . . chr21 36423642 36423856 RUNX1 F chr21_36423661_36423950_10000_3 1 . -1 -1 . -1 . . . . . . . chr21 37695369 37695803 MORC3 F chr21_37692265_37692553_11101_2:chr21_37693525_37693829_11101_1 2 . -1 -1 . -1 . . . . . . . chr21 40685211 40689775 BRWD1 F chr21_40689407_40689596_00000_1 1 . -1 -1 . -1 . . . . . . . chr21 40689481 40689668 BRWD1 F chr21_40685601_40685771_11000_1:chr21_40689407_40689596_00000_1 2 . -1 -1 . -1 . . . . . . . chr21 42879173 42879227 TMPRSS2 F chr21_42879990_42880372_11000_1:chr21_42879990_42880372_11000_1 2 . -1 -1 . -1 . . . . . . . chr21 42880678 42881074 TMPRSS2 F chr21_42879990_42880372_11000_1:chr21_42879990_42880372_11000_1 2 . -1 -1 . -1 . . . . . . . chr21 43183711 43183960 RIPK4 F chr21_43184831_43185127_10001_2:chr21_43187166_43187699_10100_3 2 . -1 -1 . -1 . . . . . . . chr21 43186748 43189188 RIPK4 F chr21_43188826_43189172_10000_2 1 . -1 -1 . -1 . . . . . . . chr21 43188787 43189188 RIPK4 F chr21_43187166_43187699_10100_3:chr21_43188021_43188214_10001_1:chr21_43188826_43189172_10000_2 3 . -1 -1 . -1 . . . . . . . chr21 43615416 43615758 ABCG1 F chr21_43619601_43619847_11101_1 1 . -1 -1 . -1 . . . . . . . chr21 44526980 44528118 U2AF1 S chr21_44859465_44859597_10000_1:chr21_44860822_44861241_10000_3 2 . -1 -1 . -1 . . . . . . . chr21 44529146 44529448 U2AF1 F chr21_44527620_44527883_11100_1 1 . -1 -1 . -1 . . . . . . . chr21 44859007 44861943 ENSG00000232010 S chr21_45669183_45669719_11000_3 1 . -1 -1 . -1 . . . . . . . chr21 44859007 44861943 U2AF1 S chr21_44527620_44527883_11100_1 1 . -1 -1 . -1 . . . . . . . chr21 45080522 45080871 RRP1B F chr21_45078994_45079468_11100_2 1 . -1 -1 . -1 . . . . . . . chr21 45660333 45664174 ICOSLG F chr21_45663968_45664120_11000_1 1 . -1 -1 . -1 . . . . . . . chr21 45663780 45664167 ICOSLG F chr21_45663968_45664120_11000_1 1 . -1 -1 . -1 . . . . . . . chr21 45668726 45670573 ENSG00000232010 S chr21_44859465_44859597_10000_1:chr21_44860822_44861241_10000_3 2 . -1 -1 . -1 . . . . . . . chr21 46847098 46848200 LSS S chr21_47648779_47648917_11100_1 1 . -1 -1 . -1 . . . . . . . chr21 46952785 46952947 SLC19A1 F chr21_46953926_46954119_10000_1:chr21_46954635_46954965_10100_1 2 . -1 -1 . -1 . . . . . . . chr22 17567178 17567397 IL17RA F chr22_17565641_17565824_10000_1:chr22_17566247_17566446_10000_1 2 . -1 -1 . -1 . . . . . . . chr22 18043890 18044097 SLC25A18 F chr22_18042682_18042947_11000_3 1 . -1 -1 . -1 . . . . . . . chr22 18921428 18921794 PRODH F chr22_18922356_18922502_00000_1:chr22_18922356_18922502_00000_1 2 . -1 -1 . -1 . . . . . . . chr22 19165309 19167291 ENSG00000100075 S chr22_20116392_20117000_10000_2 1 chr22 19165714 19165715 CM132516 - 1 DM NULL SLC25A1 Hydroxyglutaric aciduria: combined D-2 & L-2 CGGGTGGCATCGAGATCTGCATCACCTTCC[C/T]CACCGAGTACGTGAAGACGCAGCTGCAGCT 23561848 chr22 19165309 19167291 ENSG00000100075 S chr22_20116392_20117000_10000_2 1 chr22 19166162 19166163 CI132520 - 6 DM NULL SLC25A1 Hydroxyglutaric aciduria: combined D-2 & L-2 CCCGCCATGCCCGCGCCCCGCGCCCCGCGC[-/CCCGCGC]GCTCTGGCGGCCGCCGCGCCCGCGTCCGGG 23561848 chr22 20068627 20068902 DGCR8 F chr22_20067293_20067626_11101_2 1 . -1 -1 . -1 . . . . . . . chr22 20072136 20072800 DGCR8 S chr22_20116392_20117000_10000_2 1 . -1 -1 . -1 . . . . . . . chr22 20072800 20072900 DGCR8 S chr22_20072162_20072432_11000_2 1 . -1 -1 . -1 . . . . . . . chr22 20116270 20117000 DGCR8 S chr22_20072162_20072432_11000_2 1 . -1 -1 . -1 . . . . . . . chr22 20116270 20117000 ENSG00000100075 S chr22_19165756_19165942_11000_1:chr22_19166414_19166682_11000_1 2 . -1 -1 . -1 . . . . . . . chr22 20116270 20117000 ZDHHC8 S chr22_20117000_20117072_10000_2 1 . -1 -1 . -1 . . . . . . . chr22 20117000 20117252 ZDHHC8 S chr22_20116392_20117000_10000_2 1 . -1 -1 . -1 . . . . . . . chr22 20863506 20864089 MED15 F chr22_20861733_20861852_10001_1 1 . -1 -1 . -1 . . . . . . . chr22 20906600 20907800 DGCR8 S chr22_20072162_20072432_11000_2 1 . -1 -1 . -1 . . . . . . . chr22 21131820 21132200 SERPIND1 S chr22_21132200_21132363_11000_3 1 . -1 -1 . -1 . . . . . . . chr22 21132200 21132600 CRKL S chr22_21271212_21271519_10000_3 1 . -1 -1 . -1 . . . . . . . chr22 21132200 21132600 SERPIND1 S chr22_21131908_21132200_11000_3 1 . -1 -1 . -1 . . . . . . . chr22 21132200 21132600 SNAP29 S chr22_21212470_21212599_11101_1:chr22_21213017_21213388_11101_2 2 . -1 -1 . -1 . . . . . . . chr22 21132200 21132600 YDJC S chr22_21984306_21984423_10000_1 1 . -1 -1 . -1 . . . . . . . chr22 21212446 21213725 SNAP29 S chr22_21132200_21132363_11000_3:chr22_21305600_21305762_10000_1:chr22_21306241_21306452_10000_2:chr22_21307089_21307374_10000_2 4 chr22 21212476 21212477 CR014437 + 3 DP rs165596 SNAP29 Schizophrenia: association with GGTCGCGGAATAAAAAGCAGGTGAAATCGG[A/G]AGCAGAACCCCAGGTCTTGACCCCTGGTCC 11317222 chr22 21212446 21213725 SNAP29 S chr22_21132200_21132363_11000_3:chr22_21305600_21305762_10000_1:chr22_21306241_21306452_10000_2:chr22_21307089_21307374_10000_2 4 chr22 21213427 21213431 CD130519 + 5 DM NULL SNAP29 CEDNIK syndrome CCATGTCAGCTTACCCTAAAAGCTACAATC[CGTTC/-]GACGACGACGGGGAGGACGAAGGCGCCCGG 23231787 chr22 21212446 21213725 SNAP29 S chr22_21132200_21132363_11000_3:chr22_21305600_21305762_10000_1:chr22_21306241_21306452_10000_2:chr22_21307089_21307374_10000_2 4 chr22 21213621 21213622 CD052504 + 5 DM NULL SNAP29 CEDNIK syndrome GCCCTCATGTACGAGTCCGAGAAGGTTGGG[G/-]TCGCCTCTTCCGAGGTGAGCCTGGGGCAGG 15968592 chr22 21271140 21272636 CRKL S chr22_21132200_21132363_11000_3 1 . -1 -1 . -1 . . . . . . . chr22 21305600 21307600 SNAP29 S chr22_21212470_21212599_11101_1:chr22_21213017_21213388_11101_2 2 . -1 -1 . -1 . . . . . . . chr22 21983442 21984494 YDJC S chr22_21132200_21132363_11000_3 1 . -1 -1 . -1 . . . . . . . chr22 21995786 21996868 SDF2L1 S chr22_21132200_21132363_11000_3 1 . -1 -1 . -1 . . . . . . . chr22 22219429 22219677 MAPK1 F chr22_22222009_22222173_10101_1 1 . -1 -1 . -1 . . . . . . . chr22 23417264 23418600 ENSG00000235231 S chr22_24372849_24373072_10000_1 1 . -1 -1 . -1 . . . . . . . chr22 23417264 23418600 MMP11 S chr22_24110487_24110694_10100_1 1 . -1 -1 . -1 . . . . . . . chr22 23480066 23480419 RTDR1 F chr22_23484192_23484451_10100_2 1 . -1 -1 . -1 . . . . . . . chr22 28314180 28314595 PITPNB F chr22_28315307_28315512_11101_2 1 . -1 -1 . -1 . . . . . . . chr22 29198600 29199027 THOC5 S chr22_29949721_29949911_10101_1 1 . -1 -1 . -1 . . . . . . . chr22 29209800 29210373 THOC5 S chr22_29949721_29949911_10101_1 1 . -1 -1 . -1 . . . . . . . chr22 29469912 29470391 KREMEN1 F chr22_29468644_29468903_11100_2 1 . -1 -1 . -1 . . . . . . . chr22 29471077 29471334 KREMEN1 F chr22_29468644_29468903_11100_2 1 . -1 -1 . -1 . . . . . . . chr22 29949295 29950048 THOC5 S chr22_29198822_29199003_10000_1:chr22_29209805_29210257_11000_3 2 . -1 -1 . -1 . . . . . . . chr22 31606567 31606987 LIMK2 F chr22_31606947_31607183_10000_2:chr22_31608109_31608299_10100_1 2 . -1 -1 . -1 . . . . . . . chr22 31606577 31608750 LIMK2 F chr22_31606947_31607183_10000_2 1 . -1 -1 . -1 . . . . . . . chr22 31609195 31609531 LIMK2 F chr22_31608109_31608299_10100_1 1 . -1 -1 . -1 . . . . . . . chr22 34315915 34317837 LARGE F chr22_34317241_34317290_10000_1 1 . -1 -1 . -1 . . . . . . . chr22 34317541 34317731 LARGE F chr22_34317145_34317290_10000_1 1 . -1 -1 . -1 . . . . . . . chr22 35772921 35773272 HMOX1 F chr22_35775204_35775422_10000_1:chr22_35776010_35776219_10010_2:chr22_35776833_35777142_11010_2 3 . -1 -1 . -1 . . . . . . . chr22 35773875 35773984 HMOX1 F chr22_35775204_35775422_10000_1:chr22_35776010_35776219_10010_2:chr22_35776833_35777142_11010_2 3 . -1 -1 . -1 . . . . . . . chr22 36558232 36558675 APOL3 F chr22_36556819_36556928_10000_1:chr22_36560730_36560959_10000_1:chr22_36561242_36561577_10000_4:chr22_36562658_36562725_10000_2 4 . -1 -1 . -1 . . . . . . . chr22 36635206 36635849 APOL2 S chr22_37427859_37428154_10000_2:chr22_37428872_37429026_10111_4 2 . -1 -1 . -1 . . . . . . . chr22 37427608 37429026 APOL2 S chr22_36635558_36635770_10000_2 1 . -1 -1 . -1 . . . . . . . chr22 37429118 37429800 C1QTNF6 S chr22_37594536_37594719_10101_3:chr22_37596005_37596157_10101_1 2 . -1 -1 . -1 . . . . . . . chr22 37594536 37596258 C1QTNF6 S chr22_37429118_37429285_10111_4 1 . -1 -1 . -1 . . . . . . . chr22 38003584 38004981 GGA1 F chr22_38003599_38003804_11001_1 1 . -1 -1 . -1 . . . . . . . chr22 38003584 38005547 GGA1 F chr22_38003599_38003804_11001_1 1 . -1 -1 . -1 . . . . . . . chr22 38003646 38003923 GGA1 F chr22_38003599_38003804_11001_1:chr22_38003599_38003804_11001_1:chr22_38004327_38004828_11111_1:chr22_38004327_38004828_11111_1 4 . -1 -1 . -1 . . . . . . . chr22 39154682 39154985 SUN2 F chr22_39151332_39151698_10011_1:chr22_39151523_39151698_10011_1:chr22_39152307_39152546_10000_1:chr22_39152307_39152546_10000_1 4 . -1 -1 . -1 . . . . . . . chr22 39635124 39637414 PDGFB F chr22_39635606_39635726_11000_1 1 . -1 -1 . -1 . . . . . . . chr22 39635222 39635426 PDGFB F chr22_39635606_39635837_11000_1 1 . -1 -1 . -1 . . . . . . . chr22 40573428 40575585 TNRC6B F chr22_40575200_40575348_11000_1 1 . -1 -1 . -1 . . . . . . . chr22 40575185 40575584 TNRC6B F chr22_40573716_40573962_11000_2:chr22_40575200_40575348_11000_1 2 . -1 -1 . -1 . . . . . . . chr22 41079087 41079368 MCHR1 F chr22_41074681_41075025_11000_2:chr22_41075720_41075834_10000_1:chr22_41078224_41078434_10000_1 3 . -1 -1 . -1 . . . . . . . chr22 41681715 41684628 RANGAP1 F chr22_41684389_41684592_11000_3 1 . -1 -1 . -1 . . . . . . . chr22 41684313 41684541 RANGAP1 F chr22_41682304_41682691_11111_2:chr22_41684389_41684592_11000_3 2 . -1 -1 . -1 . . . . . . . chr22 41839332 41839605 TOB2 F chr22_41840467_41840642_11000_1:chr22_41842735_41843029_11000_2 2 . -1 -1 . -1 . . . . . . . chr22 41842526 41844756 TOB2 F chr22_41844169_41844842_11000_4 1 . -1 -1 . -1 . . . . . . . chr22 41844337 41844774 TOB2 F chr22_41842735_41843029_11000_2:chr22_41844169_41844756_11000_4 2 . -1 -1 . -1 . . . . . . . chr22 42486082 42487391 ENSG00000184983 S chr22_43309871_43310000_11000_3 1 chr22 42486738 42486739 CM109887 - 1 DM NULL NDUFA6 Complex I deficiency GGAGTGGATGCTTTGGCAAGATGGCGGGGA[G/A]CGGCGTCCGCCAAGCTACTTCTACCGCCAG 20818383 chr22 42526382 42528078 CYP2D6 F chr22_42528043_42528204_10000_1 1 chr22 42526656 42526657 CI962744 - 6 FP NULL CYP2D6 Poor metaboliser CCCCCTGCCACTGCCCGGGCTGGGCAACCT[-/T]GCTGCATGTGGACTTCCAGAACACACCATA 8807669 chr22 42526382 42528078 CYP2D6 F chr22_42528043_42528204_10000_1 1 chr22 42526670 42526671 CM960482 - 1 FP rs5030862 CYP2D6 Poor metaboliser CGCTACCCACCAGGCCCCCTGCCACTGCCC[G/A]GGCTGGGCAACCTGCTGCATGTGGACTTCC 8655150 chr22 42526382 42528078 CYP2D6 F chr22_42528043_42528204_10000_1 1 chr22 42526694 42526695 CM900081 - 1 FP rs1065852 CYP2D6 Poor metaboliser CACCGGCGCCAACGCTGGGCTGCACGCTAC[C/T]CACCAGGCCCCCTGCCACTGCCCGGGCTGG 2211621 chr22 42526382 42528078 CYP2D6 F chr22_42528043_42528204_10000_1 1 chr22 42526721 42526722 CM087929 - 1 FP rs267608313 CYP2D6 Poor metaboliser ATCTTCCTGCTCCTGGTGGACCTGATGCAC[C/T]GGCGCCAACGCTGGGCTGCACGCTACCCAC 18784265 chr22 42526382 42528078 CYP2D6 F chr22_42528043_42528204_10000_1 1 chr22 42526763 42526764 CM033368 - 1 FP rs769258 CYP2D6 Ultrarapid metaboliser ATGGGGCTAGAAGCACTGGTGCCCCTGGCC[G/A]TGATAGTGGCCATCTTCCTGCTCCTGGTGG 14635107 chr22 42526382 42528078 CYP2D6 F chr22_42528043_42528204_10000_1 1 chr22 42527291 42527292 CR131349 - 3 FP rs74966855 CYP2D6 Increased promoter activity CATCAGGAGCTCTAAGGCCCCAGGTAAGTG[C/A]CAGTGACAGATAAGGGTGCTGAAGGTCACT 23469064 chr22 42527695 42528060 CYP2D6 F chr22_42526382_42526540_10000_2:chr22_42526770_42527061_10000_2:chr22_42528043_42528078_10000_1 3 . -1 -1 . -1 . . . . . . . chr22 43008873 43009167 POLDIP3 S chr22_43309871_43310000_11000_3:chr22_43325387_43325642_10000_2:chr22_43336333_43336515_11000_1 3 . -1 -1 . -1 . . . . . . . chr22 43309552 43310000 ENSG00000184983 S chr22_42486851_42487123_10010_1 1 . -1 -1 . -1 . . . . . . . chr22 44319118 44321776 PNPLA3 F chr22_44321433_44321781_10011_3 1 . -1 -1 . -1 . . . . . . . chr22 44321391 44321759 PNPLA3 F chr22_44319626_44319752_10011_1:chr22_44321433_44321776_10011_3 2 . -1 -1 . -1 . . . . . . . chr22 45635616 45635934 KIAA0930 F chr22_45637019_45637150_10000_2 1 . -1 -1 . -1 . . . . . . . chr22 47154084 47154397 TBC1D22A F chr22_47154803_47155087_10000_1:chr22_47158364_47158543_11000_1 2 . -1 -1 . -1 . . . . . . . chr22 50248429 50248807 ZBED4 F chr22_50247167_50247347_11100_1 1 . -1 -1 . -1 . . . . . . . chr22 50608009 50609660 PANX2 F chr22_50608573_50608689_10000_1 1 . -1 -1 . -1 . . . . . . . chr22 50608010 50608409 PANX2 F chr22_50608573_50608689_10000_1 1 . -1 -1 . -1 . . . . . . . chr22 50741799 50742849 PLXNB2 F chr22_50744341_50744557_10000_1 1 . -1 -1 . -1 . . . . . . . chr22 50742925 50743370 PLXNB2 F chr22_50744341_50744557_10000_1 1 . -1 -1 . -1 . . . . . . . chr22 50743436 50743850 PLXNB2 F chr22_50744341_50744557_10000_1 1 . -1 -1 . -1 . . . . . . . chr22 50743986 50744741 PLXNB2 F chr22_50744341_50744557_10000_1 1 . -1 -1 . -1 . . . . . . . chr22 50744163 50746501 PLXNB2 F chr22_50744341_50744557_10000_1 1 . -1 -1 . -1 . . . . . . . chr22 50744667 50746501 PLXNB2 F chr22_50744448_50744557_10000_1 1 . -1 -1 . -1 . . . . . . . chrX 1327097 1327494 CRLF2 F chrX_1331542_1331689_10000_1:chrX_1331542_1331689_10000_1 2 . -1 -1 . -1 . . . . . . . chrX 1334123 1334262 CRLF2 F chrX_1331542_1331689_10000_1:chrX_1331542_1331689_10000_1 2 . -1 -1 . -1 . . . . . . . chrX 1514556 1514901 SLC25A6 F chrX_1511198_1511587_10000_1 1 . -1 -1 . -1 . . . . . . . chrX 9430748 9431200 TBL1X S chrX_9431200_9431435_11111_4 1 . -1 -1 . -1 . . . . . . . chrX 9431200 9431435 TBL1X S chrX_9430989_9431200_11111_4 1 . -1 -1 . -1 . . . . . . . chrX 12988794 12993726 TMSB4X F chrX_12988811_12989214_10000_1 1 . -1 -1 . -1 . . . . . . . chrX 12988805 12989184 TMSB4X F chrX_12988811_12989214_10000_1:chrX_12989857_12990038_10000_1:chrX_12990458_12990615_10000_1 3 . -1 -1 . -1 . . . . . . . chrX 12989743 12993726 TMSB4X F chrX_12989857_12990038_10000_1 1 . -1 -1 . -1 . . . . . . . chrX 12989837 12990050 TMSB4X F chrX_12989857_12990038_10000_1:chrX_12990458_12990615_10000_1 2 . -1 -1 . -1 . . . . . . . chrX 12990444 12993726 TMSB4X F chrX_12990458_12990615_10000_1 1 . -1 -1 . -1 . . . . . . . chrX 12990588 12990700 TMSB4X F chrX_12990458_12990615_10000_1 1 . -1 -1 . -1 . . . . . . . chrX 13709946 13709989 RAB9A F chrX_13706973_13707218_11000_1:chrX_13708140_13708364_10010_1 2 . -1 -1 . -1 . . . . . . . chrX 15871584 15871957 AP1S2 F chrX_15873056_15873172_11100_1 1 . -1 -1 . -1 . . . . . . . chrX 15874387 15874556 AP1S2 F chrX_15873056_15873172_11100_1 1 . -1 -1 . -1 . . . . . . . chrX 16804054 16805527 TXLNG F chrX_16805636_16805760_10100_1 1 . -1 -1 . -1 . . . . . . . chrX 16805192 16805460 TXLNG F chrX_16804205_16804454_10110_2 1 . -1 -1 . -1 . . . . . . . chrX 20281516 20281702 RPS6KA3 F chrX_20283638_20283826_10010_1 1 . -1 -1 . -1 . . . . . . . chrX 20283183 20283718 RPS6KA3 F chrX_20283638_20283826_10010_1 1 . -1 -1 . -1 . . . . . . . chrX 20283250 20285250 RPS6KA3 F chrX_20283638_20283826_10010_1 1 chrX 20284681 20284682 CD060654 - 5 DM NULL RPS6KA3 Coffin-Lowry syndrome GCTGTGGAGAGCCCGTCCGACAGCGCTGAG[G/-]TGAGTGCAGCAGGGCGGCCGGGGCCGGCGC 16879200 chrX 23799321 23799855 SAT1 F chrX_23801034_23801362_11111_1 1 chrX 23799738 23799739 CR068550 + 3 DFP rs6526342 SAT1 Suicide: association with GCTTCTGTCTAAAATGTCAGGACTTAGGAG[A/C]GCTTGTTATACATTTCCTGGTAACAGTAAA 16389195 chrX 39953769 39954197 BCOR F chrX_39954381_39954507_10000_1 1 . -1 -1 . -1 . . . . . . . chrX 39953783 39957219 BCOR F chrX_39954381_39954497_10000_1 1 . -1 -1 . -1 . . . . . . . chrX 40032962 40033837 BCOR F chrX_40033345_40033507_11000_2 1 . -1 -1 . -1 . . . . . . . chrX 40033199 40037082 BCOR F chrX_40032662_40032816_11000_1:chrX_40033345_40033507_11000_2 2 . -1 -1 . -1 . . . . . . . chrX 40943673 40944218 USP9X F chrX_40943745_40944007_11111_2 1 . -1 -1 . -1 . . . . . . . chrX 40943745 40945388 USP9X F chrX_40943579_40944007_11111_2 1 . -1 -1 . -1 . . . . . . . chrX 41780048 41780299 CASK F chrX_41780813_41781038_11000_2 1 . -1 -1 . -1 . . . . . . . chrX 44731922 44734232 KDM6A F chrX_44733357_44733525_10010_1 1 . -1 -1 . -1 . . . . . . . chrX 44733657 44734406 KDM6A F chrX_44732117_44732451_10010_3:chrX_44733319_44733525_10010_1 2 . -1 -1 . -1 . . . . . . . chrX 46432691 46435863 CHST7 F chrX_46435387_46435598_10000_1 1 . -1 -1 . -1 . . . . . . . chrX 46435390 46435934 CHST7 F chrX_46435387_46435598_10000_1 1 . -1 -1 . -1 . . . . . . . chrX 46436763 46437171 CHST7 F chrX_46435387_46435598_10000_1 1 . -1 -1 . -1 . . . . . . . chrX 46697676 46697837 RP2 F chrX_46696095_46696334_11111_1:chrX_46696843_46697067_11000_1 2 . -1 -1 . -1 . . . . . . . chrX 48777238 48777933 PIM2 F chrX_48776294_48776449_11101_2 1 . -1 -1 . -1 . . . . . . . chrX 67912981 67914519 STARD8 F chrX_67914404_67914533_10000_1 1 . -1 -1 . -1 . . . . . . . chrX 67914058 67914579 STARD8 F chrX_67913394_67913554_11110_1:chrX_67914404_67914519_10000_1 2 . -1 -1 . -1 . . . . . . . chrX 67916240 67916349 STARD8 F chrX_67913394_67913554_11110_1:chrX_67914404_67914533_10000_1:chrX_67915117_67915391_11000_1 3 . -1 -1 . -1 . . . . . . . chrX 82765698 82766098 POU3F4 F chrX_82764803_82764919_10000_1 1 . -1 -1 . -1 . . . . . . . chrX 95939161 95941139 DIAPH2 F chrX_95940872_95941080_11111_3 1 . -1 -1 . -1 . . . . . . . chrX 95940743 95941133 DIAPH2 F chrX_95939688_95939849_11110_2:chrX_95940872_95941080_11111_3 2 . -1 -1 . -1 . . . . . . . chrX 107068583 107070697 MID2 F chrX_107070248_107070385_10000_1 1 . -1 -1 . -1 . . . . . . . chrX 107070299 107070693 MID2 F chrX_107070248_107070385_10000_1 1 . -1 -1 . -1 . . . . . . . chrX 112084647 112084962 AMOT F chrX_112083542_112083709_11000_1 1 . -1 -1 . -1 . . . . . . . chrX 117858327 117862059 IL13RA1 F chrX_117858717_117858928_10101_1 1 . -1 -1 . -1 . . . . . . . chrX 117858426 117858628 IL13RA1 F chrX_117858717_117858983_10101_1:chrX_117860862_117861159_10101_2:chrX_117862048_117862059_10100_1 3 . -1 -1 . -1 . . . . . . . chrX 117864756 117865062 IL13RA1 F chrX_117861058_117861159_10101_2:chrX_117862048_117862226_10100_1:chrX_117862608_117862783_10100_1 3 . -1 -1 . -1 . . . . . . . chrX 118824830 118825236 SEPT6 F chrX_118825104_118825589_10000_3 1 . -1 -1 . -1 . . . . . . . chrX 118824833 118827833 SEPT6 F chrX_118825104_118825536_10000_3 1 . -1 -1 . -1 . . . . . . . chrX 131623495 131625641 MBNL3 F chrX_131625324_131625626_10000_3 1 . -1 -1 . -1 . . . . . . . chrX 131625337 131625543 MBNL3 F chrX_131623495_131623600_11100_1:chrX_131625324_131625626_10000_3 2 . -1 -1 . -1 . . . . . . . chrX 133509019 133509280 PHF6 F chrX_133507188_133507327_11111_1 1 . -1 -1 . -1 . . . . . . . chrX 149736546 149738121 MTM1 F chrX_149737440_149737590_11110_1 1 . -1 -1 . -1 . . . . . . . chrX 149737740 149738101 MTM1 F chrX_149736731_149737023_11100_1:chrX_149737289_149737590_11110_1 2 . -1 -1 . -1 . . . . . . . chrX 153237490 153240076 TMEM187 F chrX_153240086_153240223_10000_2 1 . -1 -1 . -1 . . . . . . . chrX 153769958 153771373 IKBKG F chrX_153770787_153770901_11010_1:chrX_153771411_153771575_11111_1 2 . -1 -1 . -1 . . . . . . . chrX 153769958 153771756 IKBKG F chrX_153771411_153771603_11111_1 1 . -1 -1 . -1 . . . . . . . chrX 153771070 153771275 IKBKG F chrX_153770787_153770901_11010_1 1 . -1 -1 . -1 . . . . . . . chrX 153771355 153776062 IKBKG F chrX_153771411_153771603_11111_1 1 chrX 153774261 153774262 CM973138 - 1 DM NULL G6PD Glucose-6-phosphate dehydrogenase deficiency ATCAGTCGGATACACACATATTCATCATCA[T/C]GGGTGCATCGgtgagtatctcccaggcccc 9410474 chrX 153771355 153776062 IKBKG F chrX_153771411_153771603_11111_1 1 chrX 153774261 153774263 CD930987 - 5 DM NULL G6PD Glucose-6-phosphate dehydrogenase deficiency CCATCAGTCGGATACACACATATTCATCAT[CAT/-]GGGTGCATCGGTGAGTATCTCCCAGGCCCC 2005960 chrX 153771355 153776062 IKBKG F chrX_153771411_153771603_11111_1 1 chrX 153774272 153774273 CM950495 - 1 DM NULL G6PD Glucose-6-phosphate dehydrogenase deficiency CGATGCCTTCCATCAGTCGGATACACACAT[A/G]TTCATCATCATGGGTGCATCGgtgagtatc 7726184 chrX 153771355 153776062 IKBKG F chrX_153771411_153771603_11111_1 1 chrX 153774276 153774277 CM910158 - 1 DM rs137852340 G6PD Glucose-6-phosphate dehydrogenase deficiency AGGGCGATGCCTTCCATCAGTCGGATACAC[A/G]CATATTCATCATCATGGGTGCATCGgtgag 1945893 chrX 153771355 153776062 IKBKG F chrX_153771411_153771603_11111_1 1 chrX 153774277 153774278 CM080378 - 1 DM NULL G6PD Glucose-6-phosphate dehydrogenase deficiency CAGGGCGATGCCTTCCATCAGTCGGATACA[C/G]ACATATTCATCATCATGGGTGCATCGgtga 18046504 chrX 153771355 153776062 IKBKG F chrX_153771411_153771603_11111_1 1 chrX 153774331 153774332 CM980788 - 1 DM NULL G6PD Glucose-6-phosphate dehydrogenase deficiency CAGGTGGCCCTGAGCCGGACCCAGGTGTGC[G/A]GGATCCTGCGGGAAGAGCTTTTCCAGGGCG 9526168 chrX 153771355 153776062 IKBKG F chrX_153771411_153771603_11111_1 1 chrX 153774337 153774338 CM973231 - 1 DM NULL G6PD Glucose-6-phosphate dehydrogenase deficiency GCAGAGCAGGTGGCCCTGAGCCGGACCCAG[G/T]TGTGCGGGATCCTGCGGGAAGAGCTTTTCC 10627140 chrX 153771355 153776062 IKBKG F chrX_153771411_153771603_11111_1 1 chrX 153774346 153774347 CM109818 - 1 DM NULL G6PD Glucose-6-phosphate dehydrogenase deficiency agcgtcATGGCAGAGCAGGTGGCCCTGAGC[C/T]GGACCCAGGTGTGCGGGATCCTGCGGGAAG 21446359 chrX 153771355 153776062 IKBKG F chrX_153771411_153771603_11111_1 1 chrX 153774364 153774365 CM094326 - 1 DM? NULL G6PD Glucose-6-phosphate dehydrogenase deficiency gcctttcttccaccagacagcgtcATGGCA[G/A]AGCAGGTGGCCCTGAGCCGGACCCAGGTGT 19589177 chrX 153771355 153776062 IKBKG F chrX_153771411_153771603_11111_1 1 chrX 153775961 153775962 CS103897 + 2 DM NULL IKBKG Immune deficiency CTTCTCACGTCTGACGGACTCTGCTGACAG[G/T]tgtggtccttttccccaaagacagggttcc 20542322 chrX 153771434 153771677 IKBKG F chrX_153770787_153770901_11010_1:chrX_153771411_153771603_11111_1:chrX_153771411_153771603_11111_1 3 . -1 -1 . -1 . . . . . . . chrX 154029933 154030114 MPP1 F chrX_154031226_154031373_10000_1:chrX_154033378_154033554_10000_1:chrX_154034071_154034302_11000_2 3 . -1 -1 . -1 . . . . . . . chrX 154030534 154030629 MPP1 F chrX_154031226_154031373_10000_1:chrX_154033378_154033554_10000_1:chrX_154034071_154034302_11000_2 3 . -1 -1 . -1 . . . . . . . chrY 22735456 22735677 EIF1AY F chrY_22737417_22737659_00000_2 1 . -1 -1 . -1 . . . . . . .