chr1 1334758 1334950 10000 1 CCNL2_chr1_1765000_1765284_S:CCNL2_chr1_1765384_1766064_S:CCNL2_chr1_2160116_2160400_S:CCNL2_chr1_2181000_2181049_S 4 . -1 -1 . -1 . . . . . . . chr1 1336258 1336602 10000 2 CCNL2_chr1_1765000_1765284_S:CCNL2_chr1_1765384_1766064_S:CCNL2_chr1_2160116_2160400_S:CCNL2_chr1_2181000_2181049_S 4 . -1 -1 . -1 . . . . . . . chr1 1368436 1368749 10101 2 VWA1_chr1_1368428_1371403_F:VWA1_chr1_1368471_1368786_F 2 . -1 -1 . -1 . . . . . . . chr1 1714460 1714568 11000 1 NADK_chr1_1714020_1714715_F 1 . -1 -1 . -1 . . . . . . . chr1 1714460 1714683 11000 1 NADK_chr1_1711007_1714568_F 1 . -1 -1 . -1 . . . . . . . chr1 1978694 1979214 11000 1 PRKCZ_chr1_1978634_1982409_F:PRKCZ_chr1_1978731_1978937_F 2 . -1 -1 . -1 . . . . . . . chr1 2139199 2139438 11000 1 C1orf86_chr1_2140151_2140337_F 1 . -1 -1 . -1 . . . . . . . chr1 2139756 2140114 11111 3 C1orf86_chr1_2140151_2140337_F 1 . -1 -1 . -1 . . . . . . . chr1 2139851 2140114 11111 3 C1orf86_chr1_2138671_2140445_F 1 . -1 -1 . -1 . . . . . . . chr1 2163135 2163296 10000 1 SKI_chr1_2159633_2162861_F 1 . -1 -1 . -1 . . . . . . . chr1 2406567 2406842 11001 1 PLCH2_chr1_2406485_2408254_F:PLCH2_chr1_2406489_2406881_F 2 . -1 -1 . -1 . . . . . . . chr1 6661233 6661473 11101 2 KLHL21_chr1_6661008_6661639_F:KLHL21_chr1_6661123_6663429_F 2 . -1 -1 . -1 . . . . . . . chr1 7843575 7843953 11101 2 PER3_chr1_7843404_7845263_F 1 . -1 -1 . -1 . . . . . . . chr1 7843575 7844748 11101 2 PER3_chr1_7843556_7843653_F 1 . -1 -1 . -1 . . . . . . . chr1 8176685 8177291 11110 3 ENO1_chr1_8931672_8932043_S 1 . -1 -1 . -1 . . . . . . . chr1 8229924 8230549 11010 3 ENO1_chr1_8931672_8932043_S 1 . -1 -1 . -1 . . . . . . . chr1 8249982 8250426 11000 2 ENO1_chr1_8931672_8932043_S 1 . -1 -1 . -1 . . . . . . . chr1 8728323 8728494 10010 2 ENO1_chr1_8931672_8932043_S 1 . -1 -1 . -1 . . . . . . . chr1 8802097 8802425 11010 4 ENO1_chr1_8931672_8932043_S 1 . -1 -1 . -1 . . . . . . . chr1 8931115 8931428 10000 3 ENO1_chr1_9222800_9224514_S 1 . -1 -1 . -1 . . . . . . . chr1 8933843 8933913 10100 1 ENO1_chr1_8611730_8612600_S:ENO1_chr1_9222800_9224514_S 2 . -1 -1 . -1 . . . . . . . chr1 9222883 9223169 10000 3 ENO1_chr1_8931087_8931428_S:ENO1_chr1_8931672_8932043_S:ENO1_chr1_8932164_8932256_S:ENO1_chr1_8933763_8933913_S 4 . -1 -1 . -1 . . . . . . . chr1 9223716 9224359 10000 3 ENO1_chr1_8931087_8931428_S:ENO1_chr1_8931672_8932043_S:ENO1_chr1_8932164_8932256_S:ENO1_chr1_8933763_8933913_S 4 . -1 -1 . -1 . . . . . . . chr1 9293349 9293750 10000 3 H6PD_chr1_9293444_9295363_F 1 . -1 -1 . -1 . . . . . . . chr1 9293444 9293750 10000 3 H6PD_chr1_9293549_9293739_F 1 . -1 -1 . -1 . . . . . . . chr1 9294187 9294457 10000 2 H6PD_chr1_9293549_9293739_F 1 . -1 -1 . -1 . . . . . . . chr1 9294910 9295020 10000 1 H6PD_chr1_9293549_9293739_F 1 . -1 -1 . -1 . . . . . . . chr1 9295340 9295363 10000 1 H6PD_chr1_9293549_9293739_F 1 . -1 -1 . -1 . . . . . . . chr1 10856638 10856809 10100 1 CASZ1_chr1_10853986_10854555_F 1 . -1 -1 . -1 . . . . . . . chr1 11797108 11797298 10000 1 AGTRAP_chr1_11798209_11798600_F:AGTRAP_chr1_11798918_11799121_F 2 . -1 -1 . -1 . . . . . . . chr1 11967894 11968482 10000 2 RNU5E-1_chr1_11779352_11779922_S 1 . -1 -1 . -1 . . . . . . . chr1 11969055 11969187 10000 1 RNU5E-1_chr1_11779352_11779922_S 1 . -1 -1 . -1 . . . . . . . chr1 15943706 15944034 10100 2 DDI2_chr1_15946733_15946892_F 1 . -1 -1 . -1 . . . . . . . chr1 15944884 15945082 10010 2 DDI2_chr1_15946733_15946892_F 1 . -1 -1 . -1 . . . . . . . chr1 15945273 15945598 10110 3 DDI2_chr1_15946733_15946892_F 1 . -1 -1 . -1 . . . . . . . chr1 16173946 16174230 11111 1 SPEN_chr1_16176617_16176801_F 1 . -1 -1 . -1 . . . . . . . chr1 16175766 16176179 11111 2 SPEN_chr1_16176617_16176801_F 1 . -1 -1 . -1 . . . . . . . chr1 16176985 16177101 11101 3 SPEN_chr1_16173858_16176910_F 1 . -1 -1 . -1 . . . . . . . chr1 16481106 16481321 10110 1 EPHA2_chr1_16478939_16479163_F:EPHA2_chr1_16479299_16479465_F 2 . -1 -1 . -1 . . . . . . . chr1 16481455 16481776 11110 1 EPHA2_chr1_16478939_16479163_F:EPHA2_chr1_16479299_16479465_F 2 . -1 -1 . -1 . . . . . . . chr1 16482471 16482640 11111 1 EPHA2_chr1_16478939_16479163_F:EPHA2_chr1_16479299_16479465_F 2 . -1 -1 . -1 . . . . . . . chr1 16677270 16677470 10010 1 FBXO42_chr1_16677339_16679448_F 1 . -1 -1 . -1 . . . . . . . chr1 16677339 16677470 10010 1 FBXO42_chr1_16677236_16677843_F 1 . -1 -1 . -1 . . . . . . . chr1 16678941 16679051 10000 1 FBXO42_chr1_16677236_16677843_F 1 . -1 -1 . -1 . . . . . . . chr1 17914615 17915185 10000 1 ARHGEF10L_chr1_17918319_17919253_S 1 . -1 -1 . -1 . . . . . . . chr1 17918500 17918858 11100 3 ARHGEF10L_chr1_17913400_17913570_S:ARHGEF10L_chr1_17913756_17915371_S 2 . -1 -1 . -1 . . . . . . . chr1 19278625 19278771 10110 1 IFFO2_chr1_19278388_19278892_F:IFFO2_chr1_19278440_19283326_F 2 . -1 -1 . -1 . . . . . . . chr1 19280247 19280465 11111 3 IFFO2_chr1_19278388_19278892_F:IFFO2_chr1_19280139_19280583_F:IFFO2_chr1_19280161_19283326_F 3 . -1 -1 . -1 . . . . . . . chr1 19614141 19614606 11000 2 AKR7A3_chr1_19614302_19615780_F 1 . -1 -1 . -1 . . . . . . . chr1 19614302 19614606 11000 2 AKR7A3_chr1_19614370_19614635_F 1 . -1 -1 . -1 . . . . . . . chr1 19615224 19615452 11000 1 AKR7A3_chr1_19614370_19614635_F 1 . -1 -1 . -1 . . . . . . . chr1 20208777 20208934 11100 1 OTUD3_chr1_20204786_20204981_F 1 . -1 -1 . -1 . . . . . . . chr1 20513650 20513869 10110 1 UBXN10_chr1_20514084_20514586_F 1 . -1 -1 . -1 . . . . . . . chr1 20513784 20513869 10110 1 UBXN10_chr1_20512077_20514536_F 1 . -1 -1 . -1 . . . . . . . chr1 21616906 21617020 10000 1 ECE1_chr1_21618792_21618804_F:ECE1_chr1_21618792_21618804_F 2 . -1 -1 . -1 . . . . . . . chr1 22264244 22264250 10000 1 HSPG2_chr1_22260274_22260656_F 1 . -1 -1 . -1 . . . . . . . chr1 22264244 22264446 10000 1 HSPG2_chr1_22266159_22266438_F 1 . -1 -1 . -1 . . . . . . . chr1 22375161 22375370 10000 1 CDC42_chr1_22375063_22379620_F:CDC42_chr1_22375194_22375332_F 2 . -1 -1 . -1 . . . . . . . chr1 22379060 22379203 10010 2 CDC42_chr1_22375194_22375332_F 1 . -1 -1 . -1 . . . . . . . chr1 23888863 23889003 11111 1 ID3_chr1_23885784_23889140_F:ID3_chr1_23888678_23889201_F 2 . -1 -1 . -1 . . . . . . . chr1 24513946 24514242 11000 3 IL28RA_chr1_24516156_24516343_F 1 . -1 -1 . -1 . . . . . . . chr1 24828910 24829073 10110 1 RCAN3_chr1_24833128_24833464_F 1 . -1 -1 . -1 . . . . . . . chr1 24969379 24969537 11110 1 SRRM1_chr1_24968619_24968979_F 1 . -1 -1 . -1 . . . . . . . chr1 25559660 25559846 10000 1 SYF2_chr1_25558512_25560053_F:SYF2_chr1_25559638_25560067_F 2 . -1 -1 . -1 . . . . . . . chr1 25942877 25943109 10110 1 MAN1C1_chr1_25942744_25943208_F:MAN1C1_chr1_25942776_25944459_F 2 . -1 -1 . -1 . . . . . . . chr1 26324581 26324900 11111 2 PAFAH2_chr1_27264331_27265466_S:PAFAH2_chr1_27317023_27317800_S 2 . -1 -1 . -1 . . . . . . . chr1 26560167 26560600 10010 1 CEP85_chr1_27264331_27265466_S 1 . -1 -1 . -1 . . . . . . . chr1 27022021 27022228 11111 1 ARID1A_chr1_27024638_27025138_F 1 . -1 -1 . -1 . . . . . . . chr1 27024735 27024899 11111 1 ARID1A_chr1_27022021_27025089_F:ARID1A_chr1_27024638_27025138_F 2 . -1 -1 . -1 . . . . . . . chr1 27191711 27191857 10101 1 SFN_chr1_27191386_27191927_F 1 . -1 -1 . -1 . . . . . . . chr1 27191711 27191867 10101 1 SFN_chr1_27189132_27191857_F 1 . -1 -1 . -1 . . . . . . . chr1 27264619 27265453 11111 4 CEP85_chr1_26560167_26561397_S:PAFAH2_chr1_26324093_26324974_S:RPS6KA1_chr1_26857687_26858072_S 3 . -1 -1 . -1 . . . . . . . chr1 28099503 28099756 11111 1 STX12_chr1_28098635_28098880_F 1 . -1 -1 . -1 . . . . . . . chr1 28415043 28415242 10000 2 EYA3_chr1_28416909_28416983_F:EYA3_chr1_28417819_28418026_F 2 . -1 -1 . -1 . . . . . . . chr1 28417853 28417977 10000 1 EYA3_chr1_28414647_28418123_F:EYA3_chr1_28417819_28418026_F 2 . -1 -1 . -1 . . . . . . . chr1 29213249 29213466 11111 1 EPB41_chr1_29214759_29214998_F 1 . -1 -1 . -1 . . . . . . . chr1 29564994 29565159 11000 1 PTPRU_chr1_29565515_29565732_F:PTPRU_chr1_29565762_29566055_F 2 . -1 -1 . -1 . . . . . . . chr1 29565850 29565992 11000 1 PTPRU_chr1_29562527_29565824_F:PTPRU_chr1_29562527_29566109_F:PTPRU_chr1_29565762_29566055_F 3 . -1 -1 . -1 . . . . . . . chr1 31538542 31538741 11011 2 PUM1_chr1_31537719_31538012_F 1 . -1 -1 . -1 . . . . . . . chr1 31895608 31895680 10000 2 HDAC1_chr1_32800680_32801141_S 1 . -1 -1 . -1 . . . . . . . chr1 31974870 31975135 10000 3 PTP4A2_chr1_32402972_32404585_S 1 . -1 -1 . -1 . . . . . . . chr1 32166811 32167102 11010 2 COL16A1_chr1_32166648_32170268_F:COL16A1_chr1_32166698_32166999_F 2 . -1 -1 . -1 . . . . . . . chr1 32404080 32404468 11100 2 PTP4A2_chr1_31974480_31975200_S 1 . -1 -1 . -1 . . . . . . . chr1 33430390 33430630 11101 1 RNF19B_chr1_33427851_33428169_F:RNF19B_chr1_33433896_33434020_F 2 . -1 -1 . -1 . . . . . . . chr1 33799832 33800200 10001 3 HDAC1_chr1_32800680_32801141_S 1 . -1 -1 . -1 . . . . . . . chr1 36554397 36554583 11100 1 ADPRHL2_chr1_36555347_36555633_F 1 . -1 -1 . -1 . . . . . . . chr1 36706000 36706093 10000 1 SH3D21_chr1_36771753_36772997_S 1 . -1 -1 . -1 . . . . . . . chr1 36850496 36850673 11110 1 STK40_chr1_36849527_36849580_F 1 . -1 -1 . -1 . . . . . . . chr1 36851586 36851854 11101 2 STK40_chr1_36849527_36849580_F 1 . -1 -1 . -1 . . . . . . . chr1 36952529 36952875 11111 3 CSF3R_chr1_36952484_36952865_F 1 . -1 -1 . -1 . . . . . . . chr1 36952529 36952950 11111 3 CSF3R_chr1_36948414_36952875_F 1 . -1 -1 . -1 . . . . . . . chr1 39874306 39874529 11000 1 KIAA0754_chr1_39874208_39874673_F:KIAA0754_chr1_39874240_39875676_F 2 . -1 -1 . -1 . . . . . . . chr1 40506103 40506521 10100 2 CAP1_chr1_40504860_40505165_F 1 . -1 -1 . -1 . . . . . . . chr1 40865759 40865892 10000 1 SMAP2_chr1_40866111_40866454_F 1 . -1 -1 . -1 . . . . . . . chr1 40865811 40865892 10000 1 SMAP2_chr1_40861971_40866483_F 1 . -1 -1 . -1 . . . . . . . chr1 41949891 41950013 10000 1 EDN2_chr1_41952015_41952273_F 1 . -1 -1 . -1 . . . . . . . chr1 41950302 41950499 10000 1 EDN2_chr1_41952015_41952273_F 1 . -1 -1 . -1 . . . . . . . chr1 42800933 42801117 11100 2 FOXJ3_chr1_42781800_42781831_S 1 . -1 -1 . -1 . . . . . . . chr1 42801537 42801625 11111 3 FOXJ3_chr1_42781800_42781831_S 1 . -1 -1 . -1 . . . . . . . chr1 43997303 43997555 10110 1 PTPRF_chr1_43997843_43998152_F 1 . -1 -1 . -1 . . . . . . . chr1 43997543 43997555 10110 1 PTPRF_chr1_43996046_43998198_F 1 . -1 -1 . -1 . . . . . . . chr1 44007627 44008060 11100 2 PTPRF_chr1_44001932_44002000_S:PTPRF_chr1_44011000_44012000_S 2 . -1 -1 . -1 . . . . . . . chr1 44011000 44011237 10101 1 PTPRF_chr1_44007512_44008166_S 1 . -1 -1 . -1 . . . . . . . chr1 44011364 44011848 11101 3 PTPRF_chr1_44007512_44008166_S 1 . -1 -1 . -1 . . . . . . . chr1 44412149 44412279 11010 1 IPO13_chr1_44748142_44750170_S 1 . -1 -1 . -1 . . . . . . . chr1 44749250 44749462 10010 3 IPO13_chr1_44411945_44413055_S:PLK3_chr1_45265417_45266360_S 2 . -1 -1 . -1 . . . . . . . chr1 44749821 44750170 11000 1 IPO13_chr1_44411945_44413055_S:PLK3_chr1_45265417_45266360_S 2 . -1 -1 . -1 . . . . . . . chr1 45265819 45266100 10000 2 PLK3_chr1_44748142_44750170_S 1 . -1 -1 . -1 . . . . . . . chr1 45987444 45987704 10100 1 PRDX1_chr1_46337800_46338529_S 1 . -1 -1 . -1 . . . . . . . chr1 46337800 46338098 11000 4 PRDX1_chr1_45986802_45988221_S 1 . -1 -1 . -1 . . . . . . . chr1 54355452 54355835 11101 2 YIPF1_chr1_54358495_54358647_F 1 . -1 -1 . -1 . . . . . . . chr1 54873328 54873496 11111 1 SSBP3_chr1_54873075_54873515_F:SSBP3_chr1_54873075_54873515_F 2 . -1 -1 . -1 . . . . . . . chr1 54873328 54873580 11111 1 SSBP3_chr1_54871478_54873496_F:SSBP3_chr1_54871591_54873496_F 2 . -1 -1 . -1 . . . . . . . chr1 56974073 56974572 11000 4 PPAP2B_chr1_57043882_57045494_S 1 . -1 -1 . -1 . . . . . . . chr1 57042721 57042876 11000 1 PPAP2B_chr1_57042764_57045757_F 1 . -1 -1 . -1 . . . . . . . chr1 57042764 57042876 11000 1 PPAP2B_chr1_57042744_57043185_F 1 . -1 -1 . -1 . . . . . . . chr1 57044037 57044193 11111 1 PPAP2B_chr1_56973670_56974748_S:PPAP2B_chr1_57042744_57043185_F:PPAP2B_chr1_57043287_57044160_F:PPAP2B_chr1_57043523_57045757_F:PPAP2B_chr1_57375570_57377502_S:PPAP2B_chr1_57745532_57746600_S 6 . -1 -1 . -1 . . . . . . . chr1 57044877 57045192 11100 2 PPAP2B_chr1_56973670_56974748_S:PPAP2B_chr1_57042744_57043185_F:PPAP2B_chr1_57043287_57044160_F:PPAP2B_chr1_57375570_57377502_S:PPAP2B_chr1_57745532_57746600_S 5 . -1 -1 . -1 . . . . . . . chr1 57376054 57376548 11111 4 PPAP2B_chr1_57043882_57045494_S 1 . -1 -1 . -1 . . . . . . . chr1 57377080 57377502 11110 3 PPAP2B_chr1_57043882_57045494_S 1 . -1 -1 . -1 . . . . . . . chr1 57745897 57746224 11010 4 PPAP2B_chr1_57043882_57045494_S 1 . -1 -1 . -1 . . . . . . . chr1 59249899 59250018 11001 2 JUN_chr1_59351200_59351664_S:JUN_chr1_59364422_59365262_S 2 . -1 -1 . -1 . . . . . . . chr1 59351200 59351326 11111 3 JUN_chr1_59247914_59251010_S 1 . -1 -1 . -1 . . . . . . . chr1 59758287 59758536 10000 3 FGGY_chr1_59758297_59763125_F 1 . -1 -1 . -1 . . . . . . . chr1 59758297 59758536 10000 3 FGGY_chr1_59758328_59758666_F 1 . -1 -1 . -1 . . . . . . . chr1 59760748 59760917 10000 1 FGGY_chr1_59758328_59758666_F 1 . -1 -1 . -1 . . . . . . . chr1 59762153 59762742 11100 1 FGGY_chr1_59758328_59758666_F 1 . -1 -1 . -1 . . . . . . . chr1 61542810 61543035 11111 4 NFIA_chr1_61543611_61543877_F 1 . -1 -1 . -1 . . . . . . . chr1 61543605 61543889 11111 2 NFIA_chr1_61542445_61543945_F:NFIA_chr1_61543544_61548034_F:NFIA_chr1_61543544_61548480_F:NFIA_chr1_61543611_61543877_F:NFIA_chr1_61543611_61543877_F:NFIA_chr1_61543611_61543877_F 6 . -1 -1 . -1 . . . . . . . chr1 61545673 61545809 11111 1 NFIA_chr1_61543611_61543877_F:NFIA_chr1_61543611_61543877_F 2 . -1 -1 . -1 . . . . . . . chr1 61548150 61548334 10100 2 NFIA_chr1_61543611_61543877_F 1 . -1 -1 . -1 . . . . . . . chr1 63785447 63785627 11100 1 FOXD3_chr1_63785209_63789230_F:FOXD3_chr1_63785369_63785450_F 2 . -1 -1 . -1 . . . . . . . chr1 63788021 63788211 11010 1 FOXD3_chr1_63785369_63785450_F 1 chr1 63788091 63788092 CR052971 + 3 DFP rs41285370 FOXD3 Vitiligo: autosomal dominant: association with CCCCGGGGATGCTGGCGCACAGTGCGGAGC[G/T]GAGTTGCGCGTCTCTCGTCCCTTTGTTGAC 16098053 chr1 65885811 65886062 11111 1 LEPROT_chr1_65888047_65888596_F 1 . -1 -1 . -1 . . . . . . . chr1 65885834 65886062 11111 1 LEPR_chr1_65888047_65888596_F 1 . -1 -1 . -1 . . . . . . . chr1 65885898 65886062 11111 1 LEPROT_chr1_65888047_65888596_F 1 . -1 -1 . -1 . . . . . . . chr1 65886477 65886942 11100 1 LEPR_chr1_65888047_65888596_F:LEPROT_chr1_65888047_65888596_F:LEPROT_chr1_65888047_65888596_F 3 . -1 -1 . -1 . . . . . . . chr1 68000291 68000524 10000 2 GADD45A_chr1_68150547_68152637_S 1 . -1 -1 . -1 . . . . . . . chr1 68001130 68001294 10000 3 GADD45A_chr1_68150547_68152637_S 1 . -1 -1 . -1 . . . . . . . chr1 68150547 68150985 11111 2 GADD45A_chr1_68000003_68001294_S 1 . -1 -1 . -1 . . . . . . . chr1 68152373 68152579 11101 2 GADD45A_chr1_68000003_68001294_S 1 . -1 -1 . -1 . . . . . . . chr1 70876400 70876948 10010 3 CTH_chr1_70877943_70877992_F 1 . -1 -1 . -1 . . . . . . . chr1 70877856 70878155 10010 1 CTH_chr1_70876400_70878168_F:CTH_chr1_70877943_70877992_F 2 . -1 -1 . -1 . . . . . . . chr1 76251639 76252020 11000 1 RABGGTB_chr1_76250721_76250813_F 1 . -1 -1 . -1 . . . . . . . chr1 78470310 78470612 11110 3 DNAJB4_chr1_78469106_78469287_F 1 . -1 -1 . -1 . . . . . . . chr1 82265790 82266013 11111 1 LPHN2_chr1_82268420_82269588_F 1 . -1 -1 . -1 . . . . . . . chr1 82266762 82267175 11111 2 LPHN2_chr1_82268420_82269588_F 1 . -1 -1 . -1 . . . . . . . chr1 82268015 82268207 11101 1 LPHN2_chr1_82268420_82269588_F 1 . -1 -1 . -1 . . . . . . . chr1 82268120 82268207 11101 1 LPHN2_chr1_82265581_82269205_F 1 . -1 -1 . -1 . . . . . . . chr1 82268612 82268752 10100 1 LPHN2_chr1_82265581_82269205_F:LPHN2_chr1_82268420_82269588_F 2 . -1 -1 . -1 . . . . . . . chr1 82269426 82269726 11010 3 LPHN2_chr1_82265581_82269205_F 1 . -1 -1 . -1 . . . . . . . chr1 84970883 84971223 11111 3 GNG5_chr1_84970929_84972762_F 1 . -1 -1 . -1 . . . . . . . chr1 84970929 84971223 11111 3 GNG5_chr1_84971050_84971209_F 1 . -1 -1 . -1 . . . . . . . chr1 84971715 84972037 11111 1 GNG5_chr1_84971050_84971209_F 1 . -1 -1 . -1 . . . . . . . chr1 84972261 84972512 11101 1 GNG5_chr1_84971050_84971209_F 1 . -1 -1 . -1 . . . . . . . chr1 85038381 85038404 10010 1 CTBS_chr1_85038638_85040663_F 1 . -1 -1 . -1 . . . . . . . chr1 85038747 85038896 10010 2 CTBS_chr1_85038638_85040663_F:CTBS_chr1_85038681_85038996_F 2 . -1 -1 . -1 . . . . . . . chr1 85039184 85039296 10000 1 CTBS_chr1_85038638_85040663_F 1 . -1 -1 . -1 . . . . . . . chr1 85039184 85039380 10000 1 CTBS_chr1_85038681_85038996_F 1 . -1 -1 . -1 . . . . . . . chr1 85039654 85039831 10000 1 CTBS_chr1_85038681_85038996_F 1 . -1 -1 . -1 . . . . . . . chr1 87170220 87170347 11000 1 SH3GLB1_chr1_87171187_87171726_F 1 . -1 -1 . -1 . . . . . . . chr1 89530542 89530640 10000 1 GBP1_chr1_89534473_89534797_F 1 . -1 -1 . -1 . . . . . . . chr1 89530998 89531188 10000 2 GBP1_chr1_89534473_89534797_F 1 . -1 -1 . -1 . . . . . . . chr1 89534048 89534214 10000 3 GBP1_chr1_89534473_89534797_F 1 . -1 -1 . -1 . . . . . . . chr1 89534173 89534214 10000 3 GBP1_chr1_89530542_89534836_F 1 . -1 -1 . -1 . . . . . . . chr1 89591785 89591985 10000 1 GBP2_chr1_89594590_89594813_F:GBP2_chr1_89595596_89595852_F 2 . -1 -1 . -1 . . . . . . . chr1 89594400 89594717 10000 3 GBP2_chr1_89591298_89594902_F:GBP2_chr1_89594590_89594813_F:GBP2_chr1_89595596_89595852_F 3 . -1 -1 . -1 . . . . . . . chr1 89740171 89740465 10000 1 GBP5_chr1_89739985_89740544_F 1 . -1 -1 . -1 . . . . . . . chr1 89740171 89740575 10000 1 GBP5_chr1_89738043_89740465_F 1 . -1 -1 . -1 . . . . . . . chr1 90022352 90022892 10010 1 LRRC8B_chr1_90022553_90024772_F 1 . -1 -1 . -1 . . . . . . . chr1 90022553 90022892 10010 1 LRRC8B_chr1_90022562_90022945_F 1 . -1 -1 . -1 . . . . . . . chr1 91182732 91182915 11010 1 BARHL2_chr1_91183313_91183764_F:BARHL2_chr1_91185058_91185169_F 2 . -1 -1 . -1 . . . . . . . chr1 93915070 93915084 11000 1 FNBP1L_chr1_93914812_93914954_F 1 . -1 -1 . -1 . . . . . . . chr1 93915070 93915254 11000 1 FNBP1L_chr1_93913187_93915084_F 1 . -1 -1 . -1 . . . . . . . chr1 94703120 94703398 11101 1 ARHGAP29_chr1_94701813_94701865_F 1 . -1 -1 . -1 . . . . . . . chr1 100110930 100111107 11101 2 PALMD_chr1_100113534_100114036_F 1 . -1 -1 . -1 . . . . . . . chr1 100111327 100111665 11101 1 PALMD_chr1_100113534_100114036_F 1 . -1 -1 . -1 . . . . . . . chr1 100113187 100113358 11111 1 PALMD_chr1_100113534_100114036_F 1 . -1 -1 . -1 . . . . . . . chr1 100113234 100113358 11111 1 PALMD_chr1_100110930_100113986_F 1 . -1 -1 . -1 . . . . . . . chr1 100113828 100113942 11101 1 PALMD_chr1_100110930_100113986_F:PALMD_chr1_100113534_100114036_F 2 . -1 -1 . -1 . . . . . . . chr1 100817841 100818261 10000 1 CDC14A_chr1_100820585_100820838_F 1 . -1 -1 . -1 . . . . . . . chr1 109102481 109102690 11101 1 FAM102B_chr1_109100040_109100237_F:FAM102B_chr1_109104473_109104583_F 2 . -1 -1 . -1 . . . . . . . chr1 109103165 109103454 11100 1 FAM102B_chr1_109100040_109100237_F:FAM102B_chr1_109104473_109104583_F 2 . -1 -1 . -1 . . . . . . . chr1 109642611 109642864 11111 1 ENSG00000238881_chr1_109819803_109820736_S:ENSG00000238881_chr1_110502400_110504746_S 2 . -1 -1 . -1 . . . . . . . chr1 109723600 109723626 10001 1 AHCYL1_chr1_110527104_110528041_S 1 . -1 -1 . -1 . . . . . . . chr1 109724008 109724303 11111 3 AHCYL1_chr1_110527104_110528041_S 1 . -1 -1 . -1 . . . . . . . chr1 109820163 109820662 11111 2 AHCYL1_chr1_110527104_110528041_S:ENSG00000238881_chr1_109642486_109643575_S 2 . -1 -1 . -1 . . . . . . . chr1 109935614 109935923 10000 2 SORT1_chr1_109933790_109934137_F:SORT1_chr1_109937534_109937767_F:SORT1_chr1_109938897_109939079_F 3 . -1 -1 . -1 . . . . . . . chr1 110161288 110161615 11010 2 AMPD2_chr1_110160052_110160461_F:AMPD2_chr1_110160052_110160461_F 2 . -1 -1 . -1 . . . . . . . chr1 110162310 110162451 11111 1 AMPD2_chr1_110160052_110160461_F:AMPD2_chr1_110160052_110160461_F 2 . -1 -1 . -1 . . . . . . . chr1 110163302 110163470 11111 1 AMPD2_chr1_110160052_110160461_F 1 . -1 -1 . -1 . . . . . . . chr1 110453320 110453457 10100 1 CSF1_chr1_110454846_110455290_F 1 . -1 -1 . -1 . . . . . . . chr1 110502576 110503350 11000 3 AHCYL1_chr1_110527104_110528041_S:ENSG00000238881_chr1_109642486_109643575_S 2 . -1 -1 . -1 . . . . . . . chr1 110504126 110504445 11000 2 AHCYL1_chr1_110527104_110528041_S:ENSG00000238881_chr1_109642486_109643575_S 2 . -1 -1 . -1 . . . . . . . chr1 110527240 110527435 11111 2 AHCYL1_chr1_109723600_109724642_S:AHCYL1_chr1_109819803_109820736_S:AHCYL1_chr1_110502400_110504746_S:AHCYL1_chr1_110526600_110527104_S:AHCYL1_chr1_110531600_110531767_S 5 . -1 -1 . -1 . . . . . . . chr1 110527957 110528041 11100 1 AHCYL1_chr1_109723600_109724642_S:AHCYL1_chr1_109819803_109820736_S:AHCYL1_chr1_110502400_110504746_S:AHCYL1_chr1_110526600_110527104_S:AHCYL1_chr1_110531600_110531767_S 5 . -1 -1 . -1 . . . . . . . chr1 112046456 112046665 10000 1 ADORA3_chr1_112050044_112050594_F 1 chr1 112046540 112046541 CR107423 - 3 FP rs1544224 ADORA3 Increased transcription factor binding affinity GAAAGATTGCATAGTCAGTGCTTCCAGCTC[T/C]GCTCCCACCTGATCCTGCACTGTCCTCTGG 20716228 chr1 112162126 112162483 11000 1 RAP1A_chr1_112163412_112163797_F:RAP1A_chr1_112163826_112164071_F 2 . -1 -1 . -1 . . . . . . . chr1 112938349 112938634 11101 1 CTTNBP2NL_chr1_112942216_112942335_F 1 . -1 -1 . -1 . . . . . . . chr1 115053059 115053066 00000 1 TRIM33_chr1_115052423_115054281_F 1 . -1 -1 . -1 . . . . . . . chr1 115053059 115053188 00000 1 TRIM33_chr1_115052481_115052766_F 1 . -1 -1 . -1 . . . . . . . chr1 115053799 115054230 11000 3 TRIM33_chr1_115052481_115052766_F 1 . -1 -1 . -1 . . . . . . . chr1 116520316 116520610 10000 3 SLC22A15_chr1_116518618_116520665_F:SLC22A15_chr1_116520279_116520650_F 2 . -1 -1 . -1 . . . . . . . chr1 116915689 116915937 11100 1 ATP1A1_chr1_116918925_116919548_F 1 . -1 -1 . -1 . . . . . . . chr1 116918911 116919161 11100 1 ATP1A1_chr1_116915294_116919437_F:ATP1A1_chr1_116915988_116919437_F:ATP1A1_chr1_116918925_116919548_F:ATP1A1_chr1_116918925_116919548_F:ATP1A1_chr1_116920378_116921129_F 5 . -1 -1 . -1 . . . . . . . chr1 116920135 116920401 10000 1 ATP1A1_chr1_116915988_116920954_F:ATP1A1_chr1_116920378_116921129_F 2 . -1 -1 . -1 . . . . . . . chr1 116920652 116920954 10000 4 ATP1A1_chr1_116920378_116921129_F 1 . -1 -1 . -1 . . . . . . . chr1 116920652 116921004 10000 4 ATP1A1_chr1_116915988_116920954_F 1 . -1 -1 . -1 . . . . . . . chr1 116924425 116924567 10000 1 ATP1A1_chr1_116923407_116923493_F 1 . -1 -1 . -1 . . . . . . . chr1 117008446 117008828 11101 3 ENSG00000233154_chr1_117041629_117041762_S 1 . -1 -1 . -1 . . . . . . . chr1 120611146 120611273 10100 1 NOTCH2_chr1_120608824_120609208_F 1 . -1 -1 . -1 . . . . . . . chr1 120612218 120612806 11110 2 NOTCH2_chr1_120608824_120609208_F 1 . -1 -1 . -1 . . . . . . . chr1 145039835 145040039 11100 3 PDE4DIP_chr1_145042783_145043227_F 1 . -1 -1 . -1 . . . . . . . chr1 145092769 145093065 10000 1 SEC22B_chr1_145092450_145092883_F:SEC22B_chr1_145092466_145096907_F 2 . -1 -1 . -1 . . . . . . . chr1 145093559 145093672 10000 1 SEC22B_chr1_145092450_145092883_F 1 . -1 -1 . -1 . . . . . . . chr1 145096296 145096443 10100 2 SEC22B_chr1_145092450_145092883_F 1 . -1 -1 . -1 . . . . . . . chr1 145435072 145435660 00000 3 TXNIP_chr1_145435172_145438962_F 1 . -1 -1 . -1 . . . . . . . chr1 145435172 145435660 00000 3 TXNIP_chr1_145435103_145435641_F 1 . -1 -1 . -1 . . . . . . . chr1 145436465 145436734 00000 2 TXNIP_chr1_145435103_145435641_F 1 . -1 -1 . -1 . . . . . . . chr1 145437605 145437780 00000 1 TXNIP_chr1_145435103_145435641_F:TXNIP_chr1_145437506_145438962_F:TXNIP_chr1_145437595_145437817_F 3 . -1 -1 . -1 . . . . . . . chr1 145438272 145438476 00000 3 TXNIP_chr1_145435103_145435641_F:TXNIP_chr1_145437595_145437817_F 2 . -1 -1 . -1 . . . . . . . chr1 149978392 149978439 10000 1 OTUD7B_chr1_149978684_149983186_F 1 . -1 -1 . -1 . . . . . . . chr1 149980754 149980947 11101 3 OTUD7B_chr1_149978692_149979077_F 1 . -1 -1 . -1 . . . . . . . chr1 149982620 149982867 11110 1 OTUD7B_chr1_149978692_149979077_F:OTUD7B_chr1_149981648_149981889_F 2 . -1 -1 . -1 . . . . . . . chr1 150230754 150230977 11101 1 CA14_chr1_150231710_150231944_F 1 . -1 -1 . -1 . . . . . . . chr1 150533840 150534028 11111 1 ADAMTSL4_chr1_150457628_150457800_S:ADAMTSL4_chr1_150540081_150541200_S 2 . -1 -1 . -1 . . . . . . . chr1 150534531 150534768 11110 1 ADAMTSL4_chr1_150457628_150457800_S:ADAMTSL4_chr1_150540081_150541200_S 2 . -1 -1 . -1 . . . . . . . chr1 150540631 150540923 11111 3 ADAMTSL4_chr1_150533395_150535013_S:MCL1_chr1_150550906_150552551_S:ZNF687_chr1_151253617_151256050_S 3 . -1 -1 . -1 . . . . . . . chr1 150552042 150552185 10111 1 MCL1_chr1_150540081_150541200_S 1 . -1 -1 . -1 . . . . . . . chr1 150737373 150737611 10000 1 CTSS_chr1_150735950_150736336_F 1 . -1 -1 . -1 . . . . . . . chr1 150949843 150949992 11000 1 LASS2_chr1_150949569_150950014_F 1 . -1 -1 . -1 . . . . . . . chr1 150949843 150950053 11000 1 LASS2_chr1_150946978_150949992_F 1 . -1 -1 . -1 . . . . . . . chr1 151253705 151254253 11111 2 ZNF687_chr1_150540081_150541200_S 1 . -1 -1 . -1 . . . . . . . chr1 151254464 151254980 11111 3 ZNF687_chr1_150540081_150541200_S 1 . -1 -1 . -1 . . . . . . . chr1 151483688 151483920 10000 1 CGN_chr1_151485676_151485841_F:CGN_chr1_151486181_151486300_F 2 . -1 -1 . -1 . . . . . . . chr1 151485410 151485618 10000 1 CGN_chr1_151483361_151485959_F:CGN_chr1_151485676_151485841_F:CGN_chr1_151486181_151486300_F 3 . -1 -1 . -1 . . . . . . . chr1 151486082 151486141 11111 3 CGN_chr1_151483361_151485959_F 1 . -1 -1 . -1 . . . . . . . chr1 151486082 151486441 11111 3 CGN_chr1_151486181_151486300_F 1 . -1 -1 . -1 . . . . . . . chr1 151486082 151486600 11111 3 CGN_chr1_151483361_151486441_F 1 . -1 -1 . -1 . . . . . . . chr1 153363553 153363746 10000 1 S100A8_chr1_153361312_153361704_F:S100A8_chr1_153366487_153366797_F 2 . -1 -1 . -1 . . . . . . . chr1 153583422 153583523 10000 1 S100A16_chr1_153583429_153586014_F 1 . -1 -1 . -1 . . . . . . . chr1 153583429 153583523 10000 1 S100A16_chr1_153583449_153583810_F 1 . -1 -1 . -1 . . . . . . . chr1 153939679 153939930 10000 2 CREB3L4_chr1_153936554_153936861_F 1 . -1 -1 . -1 . . . . . . . chr1 153940180 153940449 10000 2 CREB3L4_chr1_153936554_153936861_F 1 . -1 -1 . -1 . . . . . . . chr1 154155697 154155895 11101 1 TPM3_chr1_154154606_154155027_F 1 . -1 -1 . -1 . . . . . . . chr1 154580616 154580998 11111 2 ADAR_chr1_154579303_154579782_F:ADAR_chr1_154582047_154582244_F:ADAR_chr1_154582047_154582244_F 3 . -1 -1 . -1 . . . . . . . chr1 154904433 154905064 10000 3 ENSG00000116521_chr1_155231373_155232553_S 1 . -1 -1 . -1 . . . . . . . chr1 154973319 154973500 10101 2 ZBTB7B_chr1_154972918_154975606_F 1 . -1 -1 . -1 . . . . . . . chr1 154973319 154973811 10101 2 ZBTB7B_chr1_154973036_154973200_F:ZBTB7B_chr1_154973435_154975606_F 2 . -1 -1 . -1 . . . . . . . chr1 154973435 154973811 10101 2 ZBTB7B_chr1_154973335_154973935_F 1 . -1 -1 . -1 . . . . . . . chr1 154974544 154974784 10101 1 ZBTB7B_chr1_154973036_154973200_F:ZBTB7B_chr1_154973335_154973935_F 2 . -1 -1 . -1 . . . . . . . chr1 154974605 154974784 10101 1 ZBTB7B_chr1_154977099_154977253_F:ZBTB7B_chr1_154978035_154978657_F:ZBTB7B_chr1_154979104_154979305_F 3 . -1 -1 . -1 . . . . . . . chr1 154976375 154976681 10101 2 ZBTB7B_chr1_154977099_154977253_F:ZBTB7B_chr1_154978035_154978657_F:ZBTB7B_chr1_154979104_154979305_F 3 . -1 -1 . -1 . . . . . . . chr1 154978152 154978399 10101 2 ZBTB7B_chr1_154974605_154978547_F:ZBTB7B_chr1_154978035_154978657_F:ZBTB7B_chr1_154979104_154979305_F 3 . -1 -1 . -1 . . . . . . . chr1 155098460 155098804 11111 3 EFNA1_chr1_155098405_155100849_F:EFNA1_chr1_155098409_155098801_F:SLC50A1_chr1_156099517_156100196_S 3 . -1 -1 . -1 . . . . . . . chr1 155099029 155099101 11101 2 EFNA1_chr1_155098405_155100849_F 1 . -1 -1 . -1 . . . . . . . chr1 155099029 155099305 11101 2 EFNA1_chr1_155098409_155098801_F:SLC50A1_chr1_156099517_156100196_S 2 . -1 -1 . -1 . . . . . . . chr1 155099685 155100036 00000 4 EFNA1_chr1_155098409_155098801_F:SLC50A1_chr1_156099517_156100196_S 2 . -1 -1 . -1 . . . . . . . chr1 155101486 155101829 11010 2 SLC50A1_chr1_156099517_156100196_S 1 . -1 -1 . -1 . . . . . . . chr1 155107536 155107840 11010 1 SLC50A1_chr1_156099517_156100196_S 1 . -1 -1 . -1 . . . . . . . chr1 155108155 155108300 11010 1 SLC50A1_chr1_156099517_156100196_S 1 . -1 -1 . -1 . . . . . . . chr1 155232001 155232291 11101 2 ENSG00000116521_chr1_154904319_154905160_S:ENSG00000116521_chr1_156099517_156100196_S 2 . -1 -1 . -1 . . . . . . . chr1 156426263 156426633 11101 3 ENSG00000236947_chr1_156099517_156100196_S 1 . -1 -1 . -1 . . . . . . . chr1 156427052 156427703 11101 2 ENSG00000236947_chr1_156099517_156100196_S 1 . -1 -1 . -1 . . . . . . . chr1 156631073 156631211 10000 1 BCAN_chr1_156099517_156100196_S:BCAN_chr1_157210004_157211468_S 2 . -1 -1 . -1 . . . . . . . chr1 157108163 157108337 11101 1 ETV3_chr1_157106691_157107326_F:ETV3_chr1_157106691_157107326_F:ETV3_chr1_157111103_157111381_F:ETV3_chr1_157111103_157111381_F:ETV3_chr1_157112029_157112315_F:ETV3_chr1_157112029_157112315_F 6 . -1 -1 . -1 . . . . . . . chr1 157210267 157210842 10000 4 BCAN_chr1_156629679_156631598_S 1 . -1 -1 . -1 . . . . . . . chr1 159892690 159892883 11000 1 TAGLN2_chr1_159892447_159892988_F:TAGLN2_chr1_159892517_159895784_F 2 . -1 -1 . -1 . . . . . . . chr1 159893547 159893764 10000 1 TAGLN2_chr1_159892447_159892988_F 1 . -1 -1 . -1 . . . . . . . chr1 159894759 159895495 11100 1 TAGLN2_chr1_159892447_159892988_F 1 . -1 -1 . -1 . . . . . . . chr1 159914280 159914663 10101 1 IGSF9_chr1_159914077_159914586_F:IGSF9_chr1_159914131_159915886_F 2 . -1 -1 . -1 . . . . . . . chr1 159915483 159915886 10000 1 IGSF9_chr1_159914077_159914586_F 1 . -1 -1 . -1 . . . . . . . chr1 160312987 160313159 11100 1 NCSTN_chr1_160316870_160317108_F 1 . -1 -1 . -1 . . . . . . . chr1 160991008 160991260 11101 1 F11R_chr1_160989381_160990254_F 1 . -1 -1 . -1 . . . . . . . chr1 161994126 161994144 11000 1 OLFML2B_chr1_161991847_161991976_F 1 . -1 -1 . -1 . . . . . . . chr1 166958175 166958375 11010 1 MAEL_chr1_166954369_166954473_F 1 . -1 -1 . -1 . . . . . . . chr1 167522365 167522554 11101 1 CREG1_chr1_167518595_167519106_F:CREG1_chr1_167520671_167521013_F 2 . -1 -1 . -1 . . . . . . . chr1 167523022 167523231 11101 2 CREG1_chr1_167518595_167519106_F:CREG1_chr1_167520671_167521013_F 2 . -1 -1 . -1 . . . . . . . chr1 169074620 169075657 11110 3 ATP1B1_chr1_169071998_169072131_F 1 . -1 -1 . -1 . . . . . . . chr1 169554034 169554276 11110 2 F5_chr1_169553904_169556269_F:F5_chr1_169553917_169554291_F:F5_chr1_169554359_169556269_F 3 . -1 -1 . -1 . . . . . . . chr1 169555662 169555998 11111 1 F5_chr1_169553917_169554291_F:F5_chr1_169554315_169554804_F 2 . -1 -1 . -1 . . . . . . . chr1 169860701 169860788 11100 1 SCYL3_chr1_169860198_169863576_F 1 . -1 -1 . -1 . . . . . . . chr1 169860701 169860918 11100 1 SCYL3_chr1_169860308_169860488_F 1 . -1 -1 . -1 . . . . . . . chr1 172795683 172795800 11000 2 C1orf105_chr1_172418332_172419560_S 1 . -1 -1 . -1 . . . . . . . chr1 173445985 173446265 10000 2 PRDX6_chr1_173447359_173447668_F 1 . -1 -1 . -1 . . . . . . . chr1 173447006 173447505 10000 2 PRDX6_chr1_173447359_173447668_F 1 . -1 -1 . -1 . . . . . . . chr1 173447059 173447505 10000 2 PRDX6_chr1_173445985_173447714_F 1 . -1 -1 . -1 . . . . . . . chr1 175160346 175160451 10000 1 KIAA0040_chr1_175158150_175158288_F:KIAA0040_chr1_175158150_175158288_F 2 . -1 -1 . -1 . . . . . . . chr1 175160889 175161053 10111 1 KIAA0040_chr1_175158150_175158288_F:KIAA0040_chr1_175158150_175158288_F:KIAA0040_chr1_175160805_175162449_F:KIAA0040_chr1_175160805_175162729_F:KIAA0040_chr1_175160901_175161109_F:KIAA0040_chr1_175160901_175161109_F 6 . -1 -1 . -1 . . . . . . . chr1 175162009 175162449 11111 2 KIAA0040_chr1_175158150_175158288_F:KIAA0040_chr1_175160901_175161109_F 2 . -1 -1 . -1 . . . . . . . chr1 175162009 175162487 11111 2 KIAA0040_chr1_175158150_175158288_F:KIAA0040_chr1_175160901_175161109_F 2 . -1 -1 . -1 . . . . . . . chr1 176174466 176174719 10000 1 RFWD2_chr1_176174525_176176870_F 1 . -1 -1 . -1 . . . . . . . chr1 176174525 176174719 10000 1 RFWD2_chr1_176174471_176174980_F 1 . -1 -1 . -1 . . . . . . . chr1 176176661 176176866 00000 1 RFWD2_chr1_176174471_176174980_F 1 . -1 -1 . -1 . . . . . . . chr1 178511363 178511553 10010 1 ENSG00000184909_chr1_179073785_179074705_S 1 . -1 -1 . -1 . . . . . . . chr1 178512281 178512503 10000 2 ENSG00000184909_chr1_179073785_179074705_S 1 . -1 -1 . -1 . . . . . . . chr1 179073984 179074407 11100 3 ENSG00000184909_chr1_178511084_178512553_S 1 . -1 -1 . -1 . . . . . . . chr1 181057252 181057424 11111 2 IER5_chr1_181056686_181058138_F 1 . -1 -1 . -1 . . . . . . . chr1 181057252 181057907 11111 2 IER5_chr1_181056649_181057124_F:IER5_chr1_181060502_181060611_F 2 . -1 -1 . -1 . . . . . . . chr1 181059427 181059576 10101 2 IER5_chr1_181060502_181060611_F 1 . -1 -1 . -1 . . . . . . . chr1 181059831 181060007 10001 1 IER5_chr1_181060502_181060611_F 1 . -1 -1 . -1 . . . . . . . chr1 182360912 182361093 11100 1 GLUL_chr1_182363463_182363693_F:GLUL_chr1_182363463_182363693_F 2 . -1 -1 . -1 . . . . . . . chr1 185126033 185126371 11111 2 SWT1_chr1_185127324_185127657_F:SWT1_chr1_185127324_185127657_F 2 . -1 -1 . -1 . . . . . . . chr1 198126023 198126202 11101 2 NEK7_chr1_198124316_198124670_F 1 . -1 -1 . -1 . . . . . . . chr1 200865693 200865718 10111 2 C1orf106_chr1_200863448_200865542_F 1 . -1 -1 . -1 . . . . . . . chr1 200865693 200866062 10111 2 C1orf106_chr1_200865457_200866265_F 1 . -1 -1 . -1 . . . . . . . chr1 200865693 200866132 10111 2 C1orf106_chr1_200863448_200866062_F 1 . -1 -1 . -1 . . . . . . . chr1 201366139 201366438 00000 2 LAD1_chr1_201366294_201369169_F 1 . -1 -1 . -1 . . . . . . . chr1 201366294 201366438 00000 2 LAD1_chr1_201366439_201366550_F 1 . -1 -1 . -1 . . . . . . . chr1 201366934 201367192 11100 1 LAD1_chr1_201366439_201366550_F 1 . -1 -1 . -1 . . . . . . . chr1 201368429 201368705 11100 2 LAD1_chr1_201366439_201366550_F 1 . -1 -1 . -1 . . . . . . . chr1 201369019 201369169 11000 1 LAD1_chr1_201366439_201366550_F 1 . -1 -1 . -1 . . . . . . . chr1 201464830 201465326 11000 2 CSRP1_chr1_201463619_201463933_F 1 . -1 -1 . -1 . . . . . . . chr1 201472289 201472371 10000 2 CSRP1_chr1_201472592_201476467_F:CSRP1_chr1_201472592_201476887_F 2 . -1 -1 . -1 . . . . . . . chr1 201472655 201472845 11000 1 CSRP1_chr1_201472589_201472996_F:CSRP1_chr1_201472589_201472996_F:CSRP1_chr1_201472592_201476467_F:CSRP1_chr1_201472592_201476887_F 4 . -1 -1 . -1 . . . . . . . chr1 201473942 201474057 10000 1 CSRP1_chr1_201472589_201472996_F:CSRP1_chr1_201472589_201472996_F 2 . -1 -1 . -1 . . . . . . . chr1 201475691 201475808 11000 1 CSRP1_chr1_201472589_201472996_F:CSRP1_chr1_201472589_201472996_F 2 . -1 -1 . -1 . . . . . . . chr1 201476216 201476395 11000 1 CSRP1_chr1_201472589_201472996_F:CSRP1_chr1_201472589_201472996_F 2 . -1 -1 . -1 . . . . . . . chr1 203830529 203830856 11101 2 SNRPE_chr1_204223040_204223743_S 1 chr1 203830788 203830789 CM130275 + 1 DM NULL SNRPE Hypotrichosis simplex: autosomal dominant gtgcgggtgtgctctttgtgaaattccacc[A/G]TGGCGTACCGTGGCCAGGGTCAGAAAGTGC 23246290 chr1 203831132 203831267 10000 2 SNRPE_chr1_204223040_204223743_S 1 . -1 -1 . -1 . . . . . . . chr1 204223263 204223643 10000 4 SNRPE_chr1_203830276_203831267_S 1 . -1 -1 . -1 . . . . . . . chr1 204381016 204381370 11101 2 PPP1R15B_chr1_204383374_204383435_F 1 . -1 -1 . -1 . . . . . . . chr1 204485277 204485713 11101 2 MDM4_chr1_204486309_204486424_F 1 . -1 -1 . -1 . . . . . . . chr1 205014386 205014612 10000 1 CNTN2_chr1_205016149_205016268_F 1 . -1 -1 . -1 . . . . . . . chr1 205288719 205288974 11101 3 NUAK2_chr1_205288642_205291383_F:NUAK2_chr1_205288770_205288915_F 2 . -1 -1 . -1 . . . . . . . chr1 205290764 205290881 11100 1 NUAK2_chr1_205288770_205288915_F 1 . -1 -1 . -1 . . . . . . . chr1 205290872 205291383 11101 3 NUAK2_chr1_205288770_205288915_F 1 . -1 -1 . -1 . . . . . . . chr1 205646316 205646352 10000 1 SLC45A3_chr1_205645736_205650130_F 1 . -1 -1 . -1 . . . . . . . chr1 205646316 205646523 10000 1 SLC45A3_chr1_205645820_205646052_F 1 . -1 -1 . -1 . . . . . . . chr1 207095127 207095250 10100 1 FAIM3_chr1_207098778_207098999_F:FAIM3_chr1_207098778_207098999_F 2 . -1 -1 . -1 . . . . . . . chr1 207204986 207205224 11000 2 C1orf116_chr1_207203424_207203586_F 1 . -1 -1 . -1 . . . . . . . chr1 208417802 208417960 11000 1 PLXNA2_chr1_208418631_208418859_F 1 . -1 -1 . -1 . . . . . . . chr1 208418677 208418787 10101 1 PLXNA2_chr1_208417164_208418946_F:PLXNA2_chr1_208418631_208418859_F 2 . -1 -1 . -1 . . . . . . . chr1 209826421 209826622 10010 1 LAMB3_chr1_209827285_209827712_F:LAMB3_chr1_209827285_209827712_F:LAMB3_chr1_209828801_209829023_F:LAMB3_chr1_209829183_209829498_F:LAMB3_chr1_209829183_209829498_F 5 . -1 -1 . -1 . . . . . . . chr1 209827349 209827569 10010 2 LAMB3_chr1_209825173_209827699_F:LAMB3_chr1_209825319_209827699_F:LAMB3_chr1_209827285_209827712_F:LAMB3_chr1_209827285_209827712_F:LAMB3_chr1_209828801_209829023_F:LAMB3_chr1_209829183_209829498_F:LAMB3_chr1_209829183_209829498_F 7 . -1 -1 . -1 . . . . . . . chr1 209828920 209829050 10000 1 LAMB3_chr1_209824178_209829113_F:LAMB3_chr1_209825173_209829541_F:LAMB3_chr1_209825319_209829541_F:LAMB3_chr1_209828801_209829023_F:LAMB3_chr1_209829183_209829498_F:LAMB3_chr1_209829183_209829498_F 6 . -1 -1 . -1 . . . . . . . chr1 209829578 209829798 10001 2 LAMB3_chr1_209825173_209829541_F:LAMB3_chr1_209825319_209829541_F 2 . -1 -1 . -1 . . . . . . . chr1 210502155 210502345 11000 1 HHAT_chr1_210505670_210505997_F:HHAT_chr1_210505670_210505997_F 2 . -1 -1 . -1 . . . . . . . chr1 210502581 210503083 11101 2 HHAT_chr1_210505670_210505997_F:HHAT_chr1_210505670_210505997_F 2 . -1 -1 . -1 . . . . . . . chr1 210503768 210503890 10101 1 HHAT_chr1_210505670_210505997_F:HHAT_chr1_210505670_210505997_F 2 . -1 -1 . -1 . . . . . . . chr1 210546903 210547800 10000 4 RNU5A-8P_chr1_210547800_210547901_S 1 . -1 -1 . -1 . . . . . . . chr1 210547800 210547901 10000 4 RNU5A-8P_chr1_210546816_210547800_S 1 . -1 -1 . -1 . . . . . . . chr1 212457942 212458553 11111 1 PPP2R5A_chr1_212457966_212459379_F 1 . -1 -1 . -1 . . . . . . . chr1 212457966 212458742 11111 1 PPP2R5A_chr1_212458080_212458253_F 1 . -1 -1 . -1 . . . . . . . chr1 212459085 212459252 10100 1 PPP2R5A_chr1_212458080_212458253_F 1 . -1 -1 . -1 . . . . . . . chr1 214159385 214159573 11100 2 PROX1_chr1_214157858_214157941_F 1 . -1 -1 . -1 . . . . . . . chr1 214160518 214160619 11110 1 PROX1_chr1_214157858_214157941_F 1 . -1 -1 . -1 . . . . . . . chr1 214162816 214163116 11111 3 PROX1_chr1_214161359_214163151_F:PROX1_chr1_214162828_214163073_F 2 . -1 -1 . -1 . . . . . . . chr1 215740306 215740721 10100 2 KCTD3_chr1_215741534_215741966_F 1 . -1 -1 . -1 . . . . . . . chr1 221052562 221052722 11101 1 HLX_chr1_221049992_221050390_F:HLX_chr1_221050798_221050949_F 2 . -1 -1 . -1 . . . . . . . chr1 221915306 221915815 11101 4 DUSP10_chr1_221913881_221914483_F:DUSP10_chr1_221916049_221916599_F 2 . -1 -1 . -1 . . . . . . . chr1 221915749 221915815 11101 4 DUSP10_chr1_221915015_221916525_F 1 . -1 -1 . -1 . . . . . . . chr1 221916275 221916492 11100 1 DUSP10_chr1_221915015_221916525_F:DUSP10_chr1_221916049_221916599_F 2 . -1 -1 . -1 . . . . . . . chr1 222987985 222988235 10100 2 DISP1_chr1_222987149_222987502_F 1 . -1 -1 . -1 . . . . . . . chr1 224545322 224545735 11001 2 CNIH4_chr1_224544094_224545975_F:CNIH4_chr1_224545542_224546006_F 2 . -1 -1 . -1 . . . . . . . chr1 225614556 225614719 11010 1 LBR_chr1_225613143_225613456_F:LBR_chr1_225613143_225613456_F 2 . -1 -1 . -1 . . . . . . . chr1 225615685 225615925 11000 2 LBR_chr1_225613143_225613456_F:LBR_chr1_225613143_225613456_F 2 . -1 -1 . -1 . . . . . . . chr1 226012627 226013087 11000 3 EPHX1_chr1_226014145_226014403_F 1 . -1 -1 . -1 . . . . . . . chr1 226014177 226014375 11000 4 EPHX1_chr1_226012501_226014475_F:EPHX1_chr1_226014145_226014403_F 2 . -1 -1 . -1 . . . . . . . chr1 226187013 226187170 11111 1 C1orf55_chr1_226187685_226188168_F:C1orf55_chr1_226189681_226190319_F:C1orf55_chr1_226190534_226190731_F 3 . -1 -1 . -1 . . . . . . . chr1 226369849 226370054 10000 1 ACBD3_chr1_226370043_226374923_F 1 . -1 -1 . -1 . . . . . . . chr1 226370043 226370054 10000 1 ACBD3_chr1_226370122_226370365_F 1 . -1 -1 . -1 . . . . . . . chr1 226372811 226373010 11000 1 ACBD3_chr1_226370122_226370365_F 1 . -1 -1 . -1 . . . . . . . chr1 226374332 226374508 11000 2 ACBD3_chr1_226370122_226370365_F 1 . -1 -1 . -1 . . . . . . . chr1 226594364 226594562 11101 1 PARP1_chr1_226592689_226592838_F 1 . -1 -1 . -1 . . . . . . . chr1 226595904 226596104 11001 1 PARP1_chr1_226592689_226592838_F 1 . -1 -1 . -1 . . . . . . . chr1 227127651 227128077 10111 2 ADCK3_chr1_227128899_227129131_F 1 . -1 -1 . -1 . . . . . . . chr1 228272190 228272410 11101 1 ARF1_chr1_228273480_228273740_F:ARF1_chr1_228273480_228273740_F 2 . -1 -1 . -1 . . . . . . . chr1 228273491 228273635 11000 1 ARF1_chr1_228269860_228273811_F:ARF1_chr1_228270350_228273811_F:ARF1_chr1_228273480_228273740_F:ARF1_chr1_228273480_228273740_F 4 . -1 -1 . -1 . . . . . . . chr1 229406378 229406897 11010 3 RAB4A_chr1_229409656_229409997_F 1 . -1 -1 . -1 . . . . . . . chr1 229407365 229407487 11010 1 RAB4A_chr1_229409656_229409997_F 1 . -1 -1 . -1 . . . . . . . chr1 229409624 229409798 11101 3 RAB4A_chr1_229406378_229410027_F:RAB4A_chr1_229409656_229409997_F 2 . -1 -1 . -1 . . . . . . . chr1 229694433 229694942 11010 1 ABCB10_chr1_229690998_229691240_F:ABCB10_chr1_229692979_229693368_F 2 . -1 -1 . -1 . . . . . . . chr1 230202364 230202464 10000 1 GALNT2_chr1_230837600_230839200_S 1 . -1 -1 . -1 . . . . . . . chr1 230202705 230202863 10000 1 GALNT2_chr1_230837600_230839200_S 1 . -1 -1 . -1 . . . . . . . chr1 230838780 230839025 10010 1 AGT_chr1_230848304_230848806_S:AGT_chr1_230849326_230850602_S:EGLN1_chr1_231557383_231558630_S:GALNT2_chr1_230202364_230204131_S:SPRTN_chr1_231472894_231474440_S:TTC13_chr1_231114332_231115191_S 6 chr1 230838973 230838974 CM120997 - 1 DM rs375261929 AGT Renal tubular dysgenesis AAGCCTGAGGTCTTGGAGGTGACCCTGAAC[C/T]GCCCATTCCTGTTTGCTGTGTATGATCAAA 22095942 chr1 230848307 230848440 10111 1 AGT_chr1_230837600_230839200_S 1 . -1 -1 . -1 . . . . . . . chr1 230849833 230850481 11111 4 AGT_chr1_230837600_230839200_S 1 chr1 230849872 230849873 CR971935 - 3 DFP rs5051 AGT Hypertension: association with CAGCTATAAATAGGGCATCGTGACCCGGCC[G/A]GGGGAAGAAGCTGCCGTTGTTCTGGGTACT 9120024 chr1 230849833 230850481 11111 4 AGT_chr1_230837600_230839200_S 1 chr1 230849884 230849885 CR971936 - 3 DP rs1800585 AGT Hypertension: association with ATCCCCACCCCTCAGCTATAAATAGGGCAT[C/T]GTGACCCGGCCGGGGGAAGAAGCTGCCGTT 9314411 chr1 230849833 230850481 11111 4 AGT_chr1_230837600_230839200_S 1 chr1 230849886 230849887 CR973338 - 3 DFP rs5050 AGT Hypertension: association with CCATCCCCACCCCTCAGCTATAAATAGGGC[A/C]TCGTGACCCGGCCGGGGGAAGAAGCTGCCG 9403548 chr1 230849833 230850481 11111 4 AGT_chr1_230837600_230839200_S 1 chr1 230850083 230850084 CR023696 - 3 DFP rs5049 AGT Hypertension: association with TTCGGTAAATGTGTAACTCGACCCTGCACC[A/G]GCTCACTCTGTTCAGCAGTGAAACTCTGCA 12145290 chr1 230849833 230850481 11111 4 AGT_chr1_230837600_230839200_S 1 chr1 230850398 230850399 CR025943 - 3 DP rs5046 AGT Increased angiotensinogen levels: association with GAAGGCACTTTTCACTTGCTTGTGTGTTTT[C/T]CCCAGTGTCTATTAGAGGCCTTTGCACAGG 12404103 chr1 231003961 231004159 11010 1 C1orf198_chr1_231002258_231002436_F:C1orf198_chr1_231002258_231002436_F 2 . -1 -1 . -1 . . . . . . . chr1 231114599 231114849 11111 1 TTC13_chr1_230837600_230839200_S:TTC13_chr1_231113054_231113423_F 2 . -1 -1 . -1 . . . . . . . chr1 231473598 231473856 11010 1 SPRTN_chr1_230837600_230839200_S 1 . -1 -1 . -1 . . . . . . . chr1 233749249 233749446 10000 3 KCNK1_chr1_233750790_233751092_F 1 . -1 -1 . -1 . . . . . . . chr1 234746510 234746658 11110 1 IRF2BP2_chr1_234744770_234747084_F:IRF2BP2_chr1_234746093_234747674_F:IRF2BP2_chr1_234748100_234748931_F:IRF2BP2_chr1_234748400_234748600_S:IRF2BP2_chr1_234749342_234749645_F:IRF2BP2_chr1_234754255_234757209_S:IRF2BP2_chr1_234774287_234775887_S:IRF2BP2_chr1_234859800_234860400_S:IRF2BP2_chr1_235109392_235111200_S 9 . -1 -1 . -1 . . . . . . . chr1 234746695 234747084 11110 2 IRF2BP2_chr1_234746093_234747674_F 1 . -1 -1 . -1 . . . . . . . chr1 234746695 234747200 11110 2 IRF2BP2_chr1_234744770_234747084_F:IRF2BP2_chr1_234748100_234748931_F:IRF2BP2_chr1_234748400_234748600_S:IRF2BP2_chr1_234749342_234749645_F:IRF2BP2_chr1_234754255_234757209_S:IRF2BP2_chr1_234774287_234775887_S:IRF2BP2_chr1_234859800_234860400_S:IRF2BP2_chr1_235109392_235111200_S 8 . -1 -1 . -1 . . . . . . . chr1 234747637 234747938 10110 2 IRF2BP2_chr1_234744770_234747084_F:IRF2BP2_chr1_234748100_234748931_F:IRF2BP2_chr1_234748400_234748600_S:IRF2BP2_chr1_234749342_234749645_F:IRF2BP2_chr1_234754255_234757209_S:IRF2BP2_chr1_234774287_234775887_S:IRF2BP2_chr1_234859800_234860400_S:IRF2BP2_chr1_235109392_235111200_S 8 . -1 -1 . -1 . . . . . . . chr1 234747800 234747938 10110 2 IRF2BP2_chr1_234744770_234748716_F 1 . -1 -1 . -1 . . . . . . . chr1 234748266 234748400 11110 4 IRF2BP2_chr1_234748400_234748600_S:IRF2BP2_chr1_234754255_234757209_S:IRF2BP2_chr1_234774287_234775887_S:IRF2BP2_chr1_234859800_234860400_S:IRF2BP2_chr1_235109392_235111200_S 5 . -1 -1 . -1 . . . . . . . chr1 234748266 234748716 11110 4 IRF2BP2_chr1_234748100_234748931_F 1 . -1 -1 . -1 . . . . . . . chr1 234748266 234748824 11110 4 IRF2BP2_chr1_234744770_234748716_F:IRF2BP2_chr1_234749342_234749645_F 2 . -1 -1 . -1 . . . . . . . chr1 234748400 234748600 11110 4 IRF2BP2_chr1_234742870_234745395_S:IRF2BP2_chr1_234745558_234748400_S 2 . -1 -1 . -1 . . . . . . . chr1 234749342 234749561 11010 1 IRF2BP2_chr1_234744770_234749694_F:IRF2BP2_chr1_234749342_234749645_F 2 . -1 -1 . -1 . . . . . . . chr1 234754376 234754543 11100 1 B3GALNT2_chr1_235666999_235668761_S:ENSG00000237520_chr1_235092600_235094200_S:IRF2BP2_chr1_234742870_234745395_S:IRF2BP2_chr1_234745558_234748400_S 4 . -1 -1 . -1 . . . . . . . chr1 234755567 234755978 11110 3 B3GALNT2_chr1_235666999_235668761_S:ENSG00000237520_chr1_235092600_235094200_S:IRF2BP2_chr1_234742870_234745395_S:IRF2BP2_chr1_234745558_234748400_S 4 . -1 -1 . -1 . . . . . . . chr1 234756837 234757129 10010 1 B3GALNT2_chr1_235666999_235668761_S:ENSG00000237520_chr1_235092600_235094200_S:IRF2BP2_chr1_234742870_234745395_S:IRF2BP2_chr1_234745558_234748400_S 4 . -1 -1 . -1 . . . . . . . chr1 234774896 234775313 11000 3 IRF2BP2_chr1_234745558_234748400_S 1 . -1 -1 . -1 . . . . . . . chr1 234859929 234860400 10010 3 B3GALNT2_chr1_235666999_235668761_S:IRF2BP2_chr1_234745558_234748400_S 2 . -1 -1 . -1 . . . . . . . chr1 235093163 235093387 11111 4 ENSG00000237520_chr1_234754255_234757209_S 1 . -1 -1 . -1 . . . . . . . chr1 235093901 235094072 10110 1 ENSG00000237520_chr1_234754255_234757209_S 1 . -1 -1 . -1 . . . . . . . chr1 235109495 235109983 11010 4 IRF2BP2_chr1_234745558_234748400_S 1 . -1 -1 . -1 . . . . . . . chr1 235110857 235111200 11010 3 IRF2BP2_chr1_234745558_234748400_S 1 . -1 -1 . -1 . . . . . . . chr1 235113852 235114020 10111 1 LYST_chr1_236029548_236029752_S 1 . -1 -1 . -1 . . . . . . . chr1 235114441 235114911 11111 4 LYST_chr1_236029548_236029752_S 1 . -1 -1 . -1 . . . . . . . chr1 235667826 235668449 11000 3 B3GALNT2_chr1_234754255_234757209_S:B3GALNT2_chr1_234859800_234860400_S 2 . -1 -1 . -1 . . . . . . . chr1 236030256 236030434 11010 1 LYST_chr1_236025805_236026204_F:LYST_chr1_236026265_236026446_F:LYST_chr1_236026992_236027471_F:LYST_chr1_236031049_236031919_F 4 . -1 -1 . -1 . . . . . . . chr1 236030855 236030956 11000 1 LYST_chr1_236029719_236031685_F:LYST_chr1_236031049_236031919_F 2 . -1 -1 . -1 . . . . . . . chr1 237205201 237205210 10000 1 RYR2_chr1_237206585_237207004_F 1 . -1 -1 . -1 . . . . . . . chr1 241694571 241694770 11000 2 KMO_chr1_241693216_241693255_F 1 . -1 -1 . -1 . . . . . . . chr1 241695573 241695690 11111 1 KMO_chr1_241693216_241693255_F:KMO_chr1_241696334_241697654_F 2 . -1 -1 . -1 . . . . . . . chr1 241696398 241696533 11101 1 KMO_chr1_241694933_241697195_F:KMO_chr1_241696334_241697654_F 2 . -1 -1 . -1 . . . . . . . chr1 244216401 244216515 10000 1 ZNF238_chr1_244215508_244215901_F 1 . -1 -1 . -1 . . . . . . . chr1 246729468 246729821 10111 2 CNST_chr1_246730569_246731007_F:CNST_chr1_246732690_246733040_F 2 . -1 -1 . -1 . . . . . . . chr1 246730589 246730715 10000 1 CNST_chr1_246729138_246730989_F:CNST_chr1_246730569_246731007_F:CNST_chr1_246732690_246733040_F 3 . -1 -1 . -1 . . . . . . . chr1 249120466 249120654 10010 2 SH3BP5L_chr1_249117788_249118228_F 1 . -1 -1 . -1 . . . . . . . chr1 249153237 249153360 10000 1 ZNF692_chr1_249157308_249157673_F 1 . -1 -1 . -1 . . . . . . . chr2 3583938 3584068 10000 1 ENSG00000242282_chr2_3469099_3470600_S 1 . -1 -1 . -1 . . . . . . . chr2 3622714 3622914 11011 2 RPS7_chr2_3469099_3470600_S 1 . -1 -1 . -1 . . . . . . . chr2 9695910 9696235 11111 1 ADAM17_chr2_9692579_9693026_F 1 . -1 -1 . -1 . . . . . . . chr2 10260461 10261257 10000 3 RRM2_chr2_10260479_10263195_F:RRM2_chr2_10260479_10263363_F 2 . -1 -1 . -1 . . . . . . . chr2 10260479 10261257 10000 3 RRM2_chr2_10260365_10260994_F:RRM2_chr2_10260365_10260994_F 2 . -1 -1 . -1 . . . . . . . chr2 10587632 10587762 11000 1 ODC1_chr2_11493466_11496463_S:ODC1_chr2_11497381_11498750_S 2 . -1 -1 . -1 . . . . . . . chr2 10588436 10588937 10000 1 ODC1_chr2_11493466_11496463_S:ODC1_chr2_11497381_11498750_S 2 . -1 -1 . -1 . . . . . . . chr2 10590066 10590432 10000 2 ODC1_chr2_11493466_11496463_S:ODC1_chr2_11497381_11498750_S 2 . -1 -1 . -1 . . . . . . . chr2 10590674 10590775 10000 1 ODC1_chr2_11493466_11496463_S:ODC1_chr2_11497381_11498750_S 2 . -1 -1 . -1 . . . . . . . chr2 11272886 11273286 10001 2 C2orf50_chr2_11270081_11270242_F 1 . -1 -1 . -1 . . . . . . . chr2 11482707 11482793 10010 1 ROCK2_chr2_11493466_11496463_S:ROCK2_chr2_11497381_11498750_S 2 . -1 -1 . -1 . . . . . . . chr2 11482984 11483441 11010 2 ROCK2_chr2_11493466_11496463_S:ROCK2_chr2_11497381_11498750_S 2 . -1 -1 . -1 . . . . . . . chr2 11485593 11485819 10000 2 ROCK2_chr2_11493466_11496463_S:ROCK2_chr2_11497381_11498750_S 2 . -1 -1 . -1 . . . . . . . chr2 11497495 11497883 11000 2 E2F6_chr2_11605642_11606641_S:ENSG00000230952_chr2_11503733_11506015_S:GREB1_chr2_11679400_11680378_S:ODC1_chr2_10587574_10589561_S:ODC1_chr2_10589808_10590775_S:ROCK2_chr2_11482707_11485819_S 6 . -1 -1 . -1 . . . . . . . chr2 11506429 11506753 10000 3 E2F6_chr2_11605642_11606641_S 1 . -1 -1 . -1 . . . . . . . chr2 11605642 11605729 10000 1 E2F6_chr2_11493466_11496463_S:E2F6_chr2_11497381_11498750_S:E2F6_chr2_11506200_11506890_S 3 . -1 -1 . -1 . . . . . . . chr2 11679549 11679816 10100 2 GREB1_chr2_11493466_11496463_S:GREB1_chr2_11497381_11498750_S 2 . -1 -1 . -1 . . . . . . . chr2 11884279 11884472 11000 1 LPIN1_chr2_11882551_11882713_F 1 . -1 -1 . -1 . . . . . . . chr2 15731939 15732049 11101 1 DDX1_chr2_15734291_15734400_F 1 . -1 -1 . -1 . . . . . . . chr2 16080182 16080299 11000 1 MYCN_chr2_16084165_16084643_F 1 . -1 -1 . -1 . . . . . . . chr2 26010006 26010280 00000 3 KIF3C_chr2_26174091_26174187_S 1 . -1 -1 . -1 . . . . . . . chr2 26032613 26032854 10000 1 HADHA_chr2_26466613_26468569_S 1 . -1 -1 . -1 . . . . . . . chr2 26220655 26220945 11000 2 HADHA_chr2_26466613_26468569_S:KIF3C_chr2_26174091_26174187_S 2 . -1 -1 . -1 . . . . . . . chr2 26256245 26256430 11000 1 RAB10_chr2_26258152_26258567_F:RAB10_chr2_26259161_26259559_F 2 . -1 -1 . -1 . . . . . . . chr2 26256717 26257007 11111 1 RAB10_chr2_26258152_26258567_F:RAB10_chr2_26259161_26259559_F 2 . -1 -1 . -1 . . . . . . . chr2 26267329 26267514 10000 2 HADHA_chr2_26466613_26468569_S 1 . -1 -1 . -1 . . . . . . . chr2 26467411 26468090 11110 1 HADHA_chr2_26032336_26033000_S:HADHA_chr2_26220424_26221128_S:HADHA_chr2_26266600_26266752_S:HADHA_chr2_26266844_26267514_S 4 . -1 -1 . -1 . . . . . . . chr2 28974236 28974822 11000 2 PPP1CB_chr2_28976141_28976573_F:PPP1CB_chr2_28976141_28976573_F 2 . -1 -1 . -1 . . . . . . . chr2 28975879 28976041 10000 1 PPP1CB_chr2_28974113_28976558_F:PPP1CB_chr2_28974125_28976558_F:PPP1CB_chr2_28976141_28976573_F:PPP1CB_chr2_28976141_28976573_F 4 . -1 -1 . -1 . . . . . . . chr2 28976280 28976456 11000 1 PPP1CB_chr2_28974113_28976558_F:PPP1CB_chr2_28974125_28976558_F:PPP1CB_chr2_28976141_28976573_F:PPP1CB_chr2_28976141_28976573_F 4 . -1 -1 . -1 . . . . . . . chr2 30369365 30369843 11001 2 YPEL5_chr2_30368089_30368170_F 1 . -1 -1 . -1 . . . . . . . chr2 33701379 33701810 11001 3 RASGRP3_chr2_33702756_33702976_F 1 . -1 -1 . -1 . . . . . . . chr2 38145891 38146227 10101 3 ATL2_chr2_38603310_38604953_S 1 . -1 -1 . -1 . . . . . . . chr2 38147007 38147151 10101 2 ATL2_chr2_38603310_38604953_S 1 . -1 -1 . -1 . . . . . . . chr2 38604237 38604748 10111 1 ATL2_chr2_38145689_38147384_S:ATL2_chr2_38607567_38607881_F:ATL2_chr2_38659600_38660543_S:ATL2_chr2_38968255_38968400_S 4 . -1 -1 . -1 . . . . . . . chr2 38607916 38607925 10000 1 ATL2_chr2_38607567_38607881_F 1 . -1 -1 . -1 . . . . . . . chr2 38607916 38608023 10000 1 ATL2_chr2_38603931_38607925_F 1 . -1 -1 . -1 . . . . . . . chr2 38660043 38660382 11110 4 ATL2_chr2_38603310_38604953_S:HNRNPLL_chr2_38829079_38830868_S 2 . -1 -1 . -1 . . . . . . . chr2 38830045 38830243 11111 1 HNRNPLL_chr2_38659600_38660543_S 1 . -1 -1 . -1 . . . . . . . chr2 43019637 43019995 11000 1 HAAO_chr2_43020336_43020977_F 1 . -1 -1 . -1 . . . . . . . chr2 43453068 43453501 11010 2 ZFP36L2_chr2_43519939_43522092_S:ZFP36L2_chr2_43602516_43604044_S:ZFP36L2_chr2_43683182_43683904_S 3 . -1 -1 . -1 . . . . . . . chr2 43454091 43454614 11010 3 ZFP36L2_chr2_43519939_43522092_S:ZFP36L2_chr2_43602516_43604044_S:ZFP36L2_chr2_43683182_43683904_S 3 . -1 -1 . -1 . . . . . . . chr2 43454835 43455380 11010 1 ZFP36L2_chr2_43519939_43522092_S:ZFP36L2_chr2_43602516_43604044_S:ZFP36L2_chr2_43683182_43683904_S 3 . -1 -1 . -1 . . . . . . . chr2 43520977 43521312 11010 3 MTA3_chr2_42720401_42722472_S:ZFP36L2_chr2_43451253_43455800_S 2 . -1 -1 . -1 . . . . . . . chr2 43602992 43603263 11010 3 ZFP36L2_chr2_43451253_43455800_S 1 . -1 -1 . -1 . . . . . . . chr2 43683483 43683746 10000 2 ZFP36L2_chr2_43451253_43455800_S 1 . -1 -1 . -1 . . . . . . . chr2 46553406 46553746 11111 3 CALM2_chr2_47402018_47404359_S 1 . -1 -1 . -1 . . . . . . . chr2 46768747 46768892 10000 1 RHOQ_chr2_46765593_46765767_F 1 . -1 -1 . -1 . . . . . . . chr2 46769359 46769585 10100 1 RHOQ_chr2_46765593_46765767_F 1 . -1 -1 . -1 . . . . . . . chr2 46925984 46926174 11000 1 SOCS5_chr2_46928465_46928698_F:SOCS5_chr2_46928465_46928698_F 2 . -1 -1 . -1 . . . . . . . chr2 46927724 46927869 11000 1 SOCS5_chr2_46928465_46928698_F:SOCS5_chr2_46928465_46928698_F 2 . -1 -1 . -1 . . . . . . . chr2 47261576 47261936 11000 2 TTC7A_chr2_47215744_47216727_S:TTC7A_chr2_47270043_47271019_S:TTC7A_chr2_47540020_47540552_S 3 . -1 -1 . -1 . . . . . . . chr2 47403809 47404082 11010 1 CALM2_chr2_46553073_46554000_S:CALM2_chr2_47215744_47216727_S:CALM2_chr2_47540020_47540552_S 3 . -1 -1 . -1 . . . . . . . chr2 54196513 54196735 11011 4 PSME4_chr2_54196339_54196842_F:PSME4_chr2_54196390_54198477_F 2 . -1 -1 . -1 . . . . . . . chr2 54342433 54342688 11110 2 ACYP2_chr2_54897200_54897600_S 1 . -1 -1 . -1 . . . . . . . chr2 54343009 54343172 10101 1 ACYP2_chr2_54897200_54897600_S 1 . -1 -1 . -1 . . . . . . . chr2 54772917 54773457 10000 4 ENSG00000228108_chr2_54725221_54725318_S 1 . -1 -1 . -1 . . . . . . . chr2 54786967 54787217 11111 2 SPTBN1_chr2_54787503_54787764_F 1 . -1 -1 . -1 . . . . . . . chr2 54787203 54787217 11111 2 SPTBN1_chr2_54785030_54787834_F 1 . -1 -1 . -1 . . . . . . . chr2 54787864 54787984 10010 1 SPTBN1_chr2_54785030_54787834_F 1 . -1 -1 . -1 . . . . . . . chr2 54897200 54897304 11000 2 ACYP2_chr2_54342385_54343345_S:RTN4_chr2_55275945_55278582_S:SMEK2_chr2_55847337_55847641_S 3 . -1 -1 . -1 . . . . . . . chr2 55277770 55277931 11100 1 RTN4_chr2_54725221_54725318_S:RTN4_chr2_54725454_54725661_S:RTN4_chr2_54897200_54897600_S 3 . -1 -1 . -1 . . . . . . . chr2 60783602 60783707 10110 1 BCL11A_chr2_60784320_60784652_F 1 . -1 -1 . -1 . . . . . . . chr2 60784033 60784229 11100 1 BCL11A_chr2_60780132_60784687_F:BCL11A_chr2_60784320_60784652_F 2 . -1 -1 . -1 . . . . . . . chr2 61108305 61108785 11111 2 REL_chr2_61112067_61112568_F 1 . -1 -1 . -1 . . . . . . . chr2 61698293 61698414 10010 1 USP34_chr2_61698926_61699282_F 1 . -1 -1 . -1 . . . . . . . chr2 61699107 61699256 10010 1 USP34_chr2_61697348_61699305_F:USP34_chr2_61698926_61699282_F 2 . -1 -1 . -1 . . . . . . . chr2 63961662 63961882 11010 3 ENSG00000226756_chr2_64872240_64872562_S 1 . -1 -1 . -1 . . . . . . . chr2 64879538 64879716 11110 1 SERTAD2_chr2_64879503_64881546_F:SERTAD2_chr2_64879615_64879792_F 2 . -1 -1 . -1 . . . . . . . chr2 64879984 64880092 11111 2 SERTAD2_chr2_64879503_64881546_F 1 . -1 -1 . -1 . . . . . . . chr2 64879984 64880112 11111 2 SERTAD2_chr2_64879615_64879792_F 1 . -1 -1 . -1 . . . . . . . chr2 65659632 65659991 11111 3 SPRED2_chr2_65657861_65658229_F 1 . -1 -1 . -1 . . . . . . . chr2 69405536 69405668 00000 2 ANXA4_chr2_70007800_70009200_S 1 . -1 -1 . -1 . . . . . . . chr2 69500230 69500397 10000 3 ANXA4_chr2_70007800_70009200_S 1 . -1 -1 . -1 . . . . . . . chr2 70008513 70009200 10001 4 ANXA4_chr2_69405400_69406004_S:ANXA4_chr2_69500031_69500397_S 2 . -1 -1 . -1 . . . . . . . chr2 70056631 70056916 11111 2 GMCL1_chr2_70057532_70057914_F 1 . -1 -1 . -1 . . . . . . . chr2 70141674 70142132 11111 1 MXD1_chr2_70144957_70145388_F 1 . -1 -1 . -1 . . . . . . . chr2 71679900 71680040 10000 1 DYSF_chr2_71679670_71681253_F:DYSF_chr2_71679813_71679928_F 2 . -1 -1 . -1 . . . . . . . chr2 73114123 73114458 11010 2 SPR_chr2_73228099_73228791_S:SPR_chr2_73247583_73249377_S 2 chr2 73114352 73114353 CR092019 + 3 FP rs1876487 SPR Reduced expression TCTGTTGTCCCACTTGGCACGGACTGGGCT[C/A]CCGCCACGGTTTGACTTCCGCCACCAGCAA 19415819 chr2 73228111 73228570 11000 3 SPR_chr2_73114123_73115291_S 1 . -1 -1 . -1 . . . . . . . chr2 73248104 73248214 10010 1 SPR_chr2_73114123_73115291_S 1 . -1 -1 . -1 . . . . . . . chr2 73248602 73248793 11000 2 SPR_chr2_73114123_73115291_S 1 . -1 -1 . -1 . . . . . . . chr2 73441287 73441422 11111 1 SMYD5_chr2_73383598_73383813_S 1 . -1 -1 . -1 . . . . . . . chr2 73441728 73442029 11000 1 SMYD5_chr2_73383598_73383813_S 1 . -1 -1 . -1 . . . . . . . chr2 74619124 74619273 11111 1 DCTN1_chr2_74656400_74657800_S:DCTN1_chr2_74990702_74992902_S 2 . -1 -1 . -1 . . . . . . . chr2 74656754 74657062 10000 2 AUP1_chr2_74752814_74753785_S:DCTN1_chr2_74618400_74619354_S:HK2_chr2_75060794_75062728_S:INO80B_chr2_74681920_74682581_S:MTHFD2_chr2_74425283_74426624_S:PCGF1_chr2_74728298_74731165_S:POLE4_chr2_75185395_75186262_S:RTKN_chr2_74665509_74665627_S:RTKN_chr2_74667014_74669844_S:TTC31_chr2_74708974_74710745_S 10 . -1 -1 . -1 . . . . . . . chr2 74657400 74657650 10000 1 AUP1_chr2_74752814_74753785_S:DCTN1_chr2_74618400_74619354_S:HK2_chr2_75060794_75062728_S:INO80B_chr2_74681920_74682581_S:MTHFD2_chr2_74425283_74426624_S:PCGF1_chr2_74728298_74731165_S:POLE4_chr2_75185395_75186262_S:RTKN_chr2_74665509_74665627_S:RTKN_chr2_74667014_74669844_S:TTC31_chr2_74708974_74710745_S 10 . -1 -1 . -1 . . . . . . . chr2 74669098 74669644 10000 2 RTKN_chr2_74656400_74657800_S:RTKN_chr2_74715054_74716800_S 2 . -1 -1 . -1 . . . . . . . chr2 74681920 74682275 11110 3 INO80B_chr2_74656400_74657800_S:INO80B_chr2_74715054_74716800_S 2 . -1 -1 . -1 . . . . . . . chr2 74709896 74710231 11110 1 TTC31_chr2_74656400_74657800_S:TTC31_chr2_75708009_75709101_S 2 . -1 -1 . -1 . . . . . . . chr2 74716072 74716453 11000 3 AUP1_chr2_74752814_74753785_S:INO80B_chr2_74681920_74682581_S:PCGF1_chr2_74728298_74731165_S:RTKN_chr2_74667014_74669844_S 4 . -1 -1 . -1 . . . . . . . chr2 74729501 74729813 10000 1 PCGF1_chr2_74656400_74657800_S:PCGF1_chr2_74715054_74716800_S:PCGF1_chr2_75708009_75709101_S 3 . -1 -1 . -1 . . . . . . . chr2 74756253 74756413 10010 1 AUP1_chr2_75742914_75744000_S 1 . -1 -1 . -1 . . . . . . . chr2 74756767 74757078 10010 2 AUP1_chr2_75742914_75744000_S 1 . -1 -1 . -1 . . . . . . . chr2 75708604 75708790 11000 2 PCGF1_chr2_74728298_74731165_S:TTC31_chr2_74708974_74710745_S 2 . -1 -1 . -1 . . . . . . . chr2 75743613 75744000 11111 4 AUP1_chr2_74752814_74753785_S:AUP1_chr2_74756075_74757763_S:EVA1A_chr2_75744570_75745389_S:POLE4_chr2_75185395_75186262_S 4 . -1 -1 . -1 . . . . . . . chr2 85648506 85648785 11000 4 CAPG_chr2_86623400_86623701_S 1 . -1 -1 . -1 . . . . . . . chr2 85664691 85664908 11100 1 SH2D6_chr2_85661417_85665271_F:SH2D6_chr2_85664544_85665596_F 2 . -1 -1 . -1 . . . . . . . chr2 85811030 85811237 10000 2 VAMP5_chr2_85812721_85813054_F:VAMP5_chr2_85814700_85815022_F 2 . -1 -1 . -1 . . . . . . . chr2 85811581 85811800 11110 1 VAMP5_chr2_85812721_85813054_F:VAMP5_chr2_85814700_85815022_F 2 . -1 -1 . -1 . . . . . . . chr2 85812141 85812484 11000 3 VAMP5_chr2_85812721_85813054_F:VAMP5_chr2_85814700_85815022_F 2 . -1 -1 . -1 . . . . . . . chr2 85812421 85812484 11000 3 VAMP5_chr2_85811030_85813088_F 1 . -1 -1 . -1 . . . . . . . chr2 86116603 86116657 00000 1 ST3GAL5_chr2_86113603_86114063_F 1 . -1 -1 . -1 . . . . . . . chr2 86333230 86333395 11110 1 POLR1A_chr2_85785200_85785800_S 1 . -1 -1 . -1 . . . . . . . chr2 86623490 86623701 10000 1 CAPG_chr2_85647666_85648785_S 1 . -1 -1 . -1 . . . . . . . chr2 88355265 88355465 11110 2 KRCC1_chr2_88353539_88354148_F 1 . -1 -1 . -1 . . . . . . . chr2 96926128 96926482 11000 2 TMEM127_chr2_97267216_97268148_S 1 . -1 -1 . -1 . . . . . . . chr2 97267602 97267866 11010 3 TMEM127_chr2_96926086_96926875_S:TMEM127_chr2_96932988_96933146_S 2 . -1 -1 . -1 . . . . . . . chr2 99346205 99346381 11100 1 MGAT4A_chr2_99344413_99344676_F 1 . -1 -1 . -1 . . . . . . . chr2 100106583 100106703 11000 1 REV1_chr2_100104968_100105518_F 1 . -1 -1 . -1 . . . . . . . chr2 100106939 100106980 11000 1 REV1_chr2_100104968_100105518_F 1 . -1 -1 . -1 . . . . . . . chr2 101397400 101397468 11000 3 ENSG00000234988_chr2_101223304_101223432_S:RPL31_chr2_101618359_101619000_S 2 . -1 -1 . -1 . . . . . . . chr2 101435594 101435758 11111 4 NPAS2_chr2_101435496_101435968_F:NPAS2_chr2_101435532_101437113_F:NPAS2_chr2_101729757_101730663_S 3 . -1 -1 . -1 . . . . . . . chr2 101437523 101437661 11010 2 NPAS2_chr2_101729757_101730663_S 1 . -1 -1 . -1 . . . . . . . chr2 101439223 101439345 11010 2 NPAS2_chr2_101729757_101730663_S 1 . -1 -1 . -1 . . . . . . . chr2 101618536 101618796 11111 2 RPL31_chr2_101397400_101397914_S:RPL31_chr2_101441200_101441756_S:RPL31_chr2_101441923_101442000_S:RPL31_chr2_101469975_101470305_S:RPL31_chr2_101727200_101727400_S:RPL31_chr2_101729757_101730663_S:RPL31_chr2_101732636_101733975_S:RPL31_chr2_101740400_101740800_S:RPL31_chr2_101823593_101824496_S:RPL31_chr2_102347930_102348564_S:RPL31_chr2_102350200_102350546_S:RPL31_chr2_102369600_102369959_S:RPL31_chr2_102387290_102387600_S 13 . -1 -1 . -1 . . . . . . . chr2 101727200 101727400 10000 3 RPL31_chr2_101618359_101619000_S 1 . -1 -1 . -1 . . . . . . . chr2 101730171 101730501 10111 2 NPAS2_chr2_101434828_101437661_S:NPAS2_chr2_101439223_101439345_S:NPAS2_chr2_101439994_101440086_S:NPAS2_chr2_101440202_101440485_S:RPL31_chr2_101618359_101619000_S 5 . -1 -1 . -1 . . . . . . . chr2 101732840 101732966 10000 1 RPL31_chr2_101618359_101619000_S 1 . -1 -1 . -1 . . . . . . . chr2 101733705 101733975 10010 4 RPL31_chr2_101618359_101619000_S 1 . -1 -1 . -1 . . . . . . . chr2 101824073 101824319 10000 1 RPL31_chr2_101618359_101619000_S 1 . -1 -1 . -1 . . . . . . . chr2 101924271 101924376 10000 1 RNF149_chr2_101923239_101923757_F 1 . -1 -1 . -1 . . . . . . . chr2 101925015 101925628 10000 3 RNF149_chr2_101923239_101923757_F:RNF149_chr2_101926137_101926537_F 2 . -1 -1 . -1 . . . . . . . chr2 102350207 102350459 10000 1 RPL31_chr2_101618359_101619000_S 1 . -1 -1 . -1 . . . . . . . chr2 106810855 106811091 10000 1 UXS1_chr2_106809174_106809856_F 1 . -1 -1 . -1 . . . . . . . chr2 109204584 109204714 10100 1 LIMS1_chr2_109201604_109202307_F:LIMS1_chr2_109201604_109202307_F:LIMS1_chr2_109206329_109206788_F:LIMS1_chr2_109206329_109206788_F 4 . -1 -1 . -1 . . . . . . . chr2 112658815 112658855 10000 1 SLC20A1_chr2_113402615_113404205_S 1 . -1 -1 . -1 . . . . . . . chr2 113017259 113017351 10100 1 SLC20A1_chr2_113402615_113404205_S 1 . -1 -1 . -1 . . . . . . . chr2 113402864 113403389 10000 1 SLC20A1_chr2_112420653_112421347_S:SLC20A1_chr2_112658815_112659000_S:SLC20A1_chr2_112676905_112677200_S:SLC20A1_chr2_112678200_112678368_S:SLC20A1_chr2_113017259_113018400_S:SLC20A1_chr2_113448200_113448553_S:SLC20A1_chr2_113482087_113482511_S:SLC20A1_chr2_113482639_113483571_S 8 . -1 -1 . -1 . . . . . . . chr2 113448200 113448553 10000 1 SLC20A1_chr2_113402615_113404205_S 1 . -1 -1 . -1 . . . . . . . chr2 113882210 113882325 10000 1 IL1RN_chr2_113881199_113882653_F:IL1RN_chr2_113881726_113885638_F 2 . -1 -1 . -1 . . . . . . . chr2 113883012 113883127 10010 1 IL1RN_chr2_113881199_113882653_F:IL1RN_chr2_113882661_113883329_F:IL1RN_chr2_113882795_113885638_F 3 . -1 -1 . -1 . . . . . . . chr2 113884383 113885190 11111 3 IL1RN_chr2_113881199_113882653_F:IL1RN_chr2_113882661_113883329_F 2 . -1 -1 . -1 . . . . . . . chr2 114647328 114647722 11111 2 ACTR3_chr2_114644100_114644364_F:ACTR3_chr2_114649026_114649412_F 2 . -1 -1 . -1 . . . . . . . chr2 118771723 118772137 11110 1 CCDC93_chr2_118774480_118774964_F 1 . -1 -1 . -1 . . . . . . . chr2 118845759 118846045 11111 3 INSIG2_chr2_118847045_118847263_F 1 chr2 118845948 118845949 CR082020 + 3 DFP rs76335892 INSIG2 Reduced BMI: association with AGACCGGAAGCCCTTTTGCCCCGGCTCGCA[G/A]GTCCACGTCTTATTGACAGCAGGAACCGGA 18319320 chr2 120191544 120191821 10000 1 TMEM37_chr2_120191442_120191798_F 1 . -1 -1 . -1 . . . . . . . chr2 120191544 120191851 10000 1 TMEM37_chr2_120188945_120191821_F:TMEM37_chr2_120192847_120193082_F 2 . -1 -1 . -1 . . . . . . . chr2 121010290 121010400 11101 1 RALB_chr2_121011894_121012098_F 1 . -1 -1 . -1 . . . . . . . chr2 121010850 121011019 11101 1 RALB_chr2_121011894_121012098_F 1 . -1 -1 . -1 . . . . . . . chr2 122288005 122288162 11100 1 CLASP1_chr2_122325000_122326251_S 1 . -1 -1 . -1 . . . . . . . chr2 122288509 122288881 11111 2 CLASP1_chr2_122325000_122326251_S 1 chr2 122288510 122288511 CR112396 + 3 DM NULL RNU4ATAC Microcephalic primordial dwarfism: type I CTACTGTCCAATGAGCGCATAGTGAGGGCA[G/A]TACTGCTAACGCCTGAACAACACACCCGCA 21474760 chr2 122288509 122288881 11111 2 CLASP1_chr2_122325000_122326251_S 1 chr2 122288521 122288522 CR123784 + 3 DM NULL RNU4ATAC Microcephalic primordial dwarfism: type I TGAGCGCATAGTGAGGGCAGTACTGCTAAC[G/C]CCTGAACAACACACCCGCATCAACTAGAGC 22581640 chr2 122288509 122288881 11111 2 CLASP1_chr2_122325000_122326251_S 1 chr2 122288566 122288567 CR112398 + 3 DM NULL RNU4ATAC Microcephalic primordial dwarfism: type I CCGCATCAACTAGAGCTTTTGCTTTATTTT[G/A]GTGCAATTTTTGGAAAAATGAAAACCTGTT 21474760 chr2 122288509 122288881 11111 2 CLASP1_chr2_122325000_122326251_S 1 chr2 122288579 122288580 CR123785 + 3 DM NULL RNU4ATAC Microcephalic primordial dwarfism: type I AGCTTTTGCTTTATTTTGGTGCAATTTTTG[G/A]AAAAATGAAAACCTGTTTTCATAGACTTAT 22581640 chr2 122325638 122325869 11010 2 CLASP1_chr2_122287499_122288960_S 1 . -1 -1 . -1 . . . . . . . chr2 128145695 128145907 11000 1 MAP3K2_chr2_128926250_128928710_S:MAP3K2_chr2_128935400_128937200_S:MAP3K2_chr2_129062600_129064087_S 3 . -1 -1 . -1 . . . . . . . chr2 128173413 128173609 11000 1 PROC_chr2_128173713_128176496_F 1 . -1 -1 . -1 . . . . . . . chr2 128173719 128174404 11000 2 PROC_chr2_128173465_128174362_F:PROC_chr2_128173713_128176496_F 2 . -1 -1 . -1 . . . . . . . chr2 128175931 128176191 11000 2 PROC_chr2_128173465_128174362_F:PROC_chr2_128926250_128928710_S:PROC_chr2_128935400_128937200_S:PROC_chr2_129062600_129064087_S 4 chr2 128175983 128175984 CR930881 + 3 DM NULL PROC Protein C deficiency GAGGGAGGCCTCAGTGCTGAGGGCCAAGCA[A/G]ATATTTGTGGTTATGGATTAACTCGAACTC 8292730 chr2 128175931 128176191 11000 2 PROC_chr2_128173465_128174362_F:PROC_chr2_128926250_128928710_S:PROC_chr2_128935400_128937200_S:PROC_chr2_129062600_129064087_S 4 chr2 128175984 128175985 CR001859 + 3 DM NULL PROC Protein C deficiency AGGGAGGCCTCAGTGCTGAGGGCCAAGCAA[A/G]TATTTGTGGTTATGGATTAACTCGAACTCC 10942114 chr2 128175931 128176191 11000 2 PROC_chr2_128173465_128174362_F:PROC_chr2_128926250_128928710_S:PROC_chr2_128935400_128937200_S:PROC_chr2_129062600_129064087_S 4 chr2 128175988 128175989 CR930880 + 3 DM NULL PROC Protein C deficiency AGGCCTCAGTGCTGAGGGCCAAGCAAATAT[T/A]TGTGGTTATGGATTAACTCGAACTCCAGGC 8499565 chr2 128175931 128176191 11000 2 PROC_chr2_128173465_128174362_F:PROC_chr2_128926250_128928710_S:PROC_chr2_128935400_128937200_S:PROC_chr2_129062600_129064087_S 4 chr2 128175994 128175995 CR036052 + 3 DM NULL PROC Protein C deficiency: type I CAGTGCTGAGGGCCAAGCAAATATTTGTGG[T/G]TATGGATTAACTCGAACTCCAGGCTGTCAT 12960605 chr2 128175931 128176191 11000 2 PROC_chr2_128173465_128174362_F:PROC_chr2_128926250_128928710_S:PROC_chr2_128935400_128937200_S:PROC_chr2_129062600_129064087_S 4 chr2 128176001 128176002 CR941558 + 3 DM NULL PROC Protein C deficiency GAGGGCCAAGCAAATATTTGTGGTTATGGA[T/C]TAACTCGAACTCCAGGCTGTCATGGCGGCA 7881411 chr2 128175931 128176191 11000 2 PROC_chr2_128173465_128174362_F:PROC_chr2_128926250_128928710_S:PROC_chr2_128935400_128937200_S:PROC_chr2_129062600_129064087_S 4 chr2 128176005 128176006 CR930879 + 3 DM NULL PROC Protein C deficiency GCCAAGCAAATATTTGTGGTTATGGATTAA[C/T]TCGAACTCCAGGCTGTCATGGCGGCAGGAC 8292730 chr2 128175931 128176191 11000 2 PROC_chr2_128173465_128174362_F:PROC_chr2_128926250_128928710_S:PROC_chr2_128935400_128937200_S:PROC_chr2_129062600_129064087_S 4 chr2 128176036 128176037 CR942016 + 3 DM rs2069936 PROC Protein C deficiency TCGAACTCCAGGCTGTCATGGCGGCAGGAC[G/A]GCGAACTTGCAGTATCTCCACGACCCGCCC LSDB chr2 128175931 128176191 11000 2 PROC_chr2_128173465_128174362_F:PROC_chr2_128926250_128928710_S:PROC_chr2_128935400_128937200_S:PROC_chr2_129062600_129064087_S 4 chr2 128176040 128176041 CR952208 + 3 FP rs1799810 PROC Reduced Protein C levels ACTCCAGGCTGTCATGGCGGCAGGACGGCG[A/T]ACTTGCAGTATCTCCACGACCCGCCCCTGT 7749828 chr2 128175931 128176191 11000 2 PROC_chr2_128173465_128174362_F:PROC_chr2_128926250_128928710_S:PROC_chr2_128935400_128937200_S:PROC_chr2_129062600_129064087_S 4 chr2 128176047 128176048 CR004298 + 3 DM NULL PROC Protein C deficiency GCTGTCATGGCGGCAGGACGGCGAACTTGC[A/C]GTATCTCCACGACCCGCCCCTGTGAGTCCC 10805275 chr2 128175931 128176191 11000 2 PROC_chr2_128173465_128174362_F:PROC_chr2_128926250_128928710_S:PROC_chr2_128935400_128937200_S:PROC_chr2_129062600_129064087_S 4 chr2 128176058 128176059 CR004299 + 3 DM NULL PROC Protein C deficiency GGCAGGACGGCGAACTTGCAGTATCTCCAC[G/A]ACCCGCCCCTGTGAGTCCCCCTCCAGGCAG 10805275 chr2 128176390 128176496 11000 2 PROC_chr2_128173465_128174362_F 1 . -1 -1 . -1 . . . . . . . chr2 128176390 128176660 11000 2 PROC_chr2_128926250_128928710_S:PROC_chr2_128935400_128937200_S:PROC_chr2_129062600_129064087_S 3 . -1 -1 . -1 . . . . . . . chr2 128177008 128177247 11000 2 PROC_chr2_129062600_129064087_S 1 . -1 -1 . -1 . . . . . . . chr2 128615030 128615076 10000 1 POLR2D_chr2_129062600_129064087_S 1 . -1 -1 . -1 . . . . . . . chr2 128615952 128616076 10000 1 POLR2D_chr2_129062600_129064087_S 1 . -1 -1 . -1 . . . . . . . chr2 128642552 128642562 10000 2 AMMECR1L_chr2_129062600_129064087_S:AMMECR1L_chr2_129064257_129064559_S:AMMECR1L_chr2_129064851_129064999_S 3 . -1 -1 . -1 . . . . . . . chr2 128644404 128644519 10000 1 AMMECR1L_chr2_129062600_129064087_S 1 . -1 -1 . -1 . . . . . . . chr2 128936337 128936478 11000 2 ERCC3_chr2_128051057_128052063_S:MAP3K2_chr2_128144519_128146112_S:PROC_chr2_128175775_128176916_S:WDR33_chr2_128567867_128569356_S 4 . -1 -1 . -1 . . . . . . . chr2 129063911 129064087 10000 2 AMMECR1L_chr2_128642552_128642789_S:AMMECR1L_chr2_128643508_128644655_S:HS6ST1_chr2_129074400_129074492_S:HS6ST1_chr2_129074716_129075824_S:HS6ST1_chr2_129075922_129076070_S:MAP3K2_chr2_128144519_128146112_S:POLR2D_chr2_128615030_128616076_S:PROC_chr2_128175775_128176916_S:PROC_chr2_128177008_128177494_S:PROC_chr2_128178214_128178484_S:SFT2D3_chr2_128458651_128460030_S:WDR33_chr2_128567867_128569356_S 12 . -1 -1 . -1 . . . . . . . chr2 131862039 131862353 10000 3 PLEKHB2_chr2_131863489_131864378_F 1 . -1 -1 . -1 . . . . . . . chr2 131862780 131862903 11000 1 PLEKHB2_chr2_131863489_131864378_F 1 . -1 -1 . -1 . . . . . . . chr2 131863906 131864134 11000 1 PLEKHB2_chr2_131863489_131864378_F 1 . -1 -1 . -1 . . . . . . . chr2 131863906 131864204 11000 1 PLEKHB2_chr2_131861919_131864134_F 1 . -1 -1 . -1 . . . . . . . chr2 134324619 134324797 11000 3 NCKAP5_chr2_134322407_134322631_F 1 . -1 -1 . -1 . . . . . . . chr2 134325974 134326137 11101 1 NCKAP5_chr2_134322407_134322631_F 1 . -1 -1 . -1 . . . . . . . chr2 136870945 136871105 11111 1 CXCR4_chr2_136870789_136874313_F:CXCR4_chr2_136870879_136871100_F 2 . -1 -1 . -1 . . . . . . . chr2 138721271 138721394 11010 1 HNMT_chr2_138717867_138718049_F 1 . -1 -1 . -1 . . . . . . . chr2 138721642 138721945 11010 4 HNMT_chr2_138717867_138718049_F 1 . -1 -1 . -1 . . . . . . . chr2 142889065 142889270 10000 2 LRP1B_chr2_142886868_142887183_F 1 . -1 -1 . -1 . . . . . . . chr2 143631989 143632007 11000 3 KYNU_chr2_143631044_143635695_F 1 . -1 -1 . -1 . . . . . . . chr2 143631989 143632313 11000 3 KYNU_chr2_143630782_143631707_F 1 . -1 -1 . -1 . . . . . . . chr2 143634960 143635190 11010 4 KYNU_chr2_143630782_143631707_F 1 . -1 -1 . -1 . . . . . . . chr2 149634364 149634604 11000 1 KIF5C_chr2_149632291_149634812_F:KIF5C_chr2_149634441_149634782_F 2 . -1 -1 . -1 . . . . . . . chr2 152146359 152146783 10101 2 NMI_chr2_152144821_152144962_F 1 . -1 -1 . -1 . . . . . . . chr2 152266171 152266549 11010 2 RIF1_chr2_152851648_152853357_S 1 . -1 -1 . -1 . . . . . . . chr2 152852309 152852476 10100 1 RIF1_chr2_152266171_152267333_S:STAM2_chr2_153031666_153033055_S 2 . -1 -1 . -1 . . . . . . . chr2 153032464 153032602 11100 1 STAM2_chr2_152851648_152853357_S:STAM2_chr2_153261740_153262287_S 2 . -1 -1 . -1 . . . . . . . chr2 155556116 155556353 11000 2 KCNJ3_chr2_155558133_155558529_F 1 . -1 -1 . -1 . . . . . . . chr2 157189163 157189267 11101 1 NR4A2_chr2_157190328_157191531_F:NR4A2_chr2_157191997_157192231_F 2 chr2 157189174 157189175 CR092630 - 3 DM NULL NR4A2 Parkinson disease CCAGGGCCAGTCCGCCCGGCGGCTCGCGCA[C/T]GGCTCCGCGGTCCCTTTTGCCTGTCCAGCC 19429166 chr2 157189625 157189746 11000 1 NR4A2_chr2_157190328_157191531_F:NR4A2_chr2_157191997_157192231_F 2 . -1 -1 . -1 . . . . . . . chr2 157190121 157190327 10001 1 NR4A2_chr2_157188786_157191130_F:NR4A2_chr2_157190328_157191531_F:NR4A2_chr2_157191997_157192231_F 3 . -1 -1 . -1 . . . . . . . chr2 159314618 159315058 11101 4 PKP4_chr2_159041191_159041819_S 1 . -1 -1 . -1 . . . . . . . chr2 161347901 161347989 10000 1 RBMS1_chr2_161348240_161350818_F 1 . -1 -1 . -1 . . . . . . . chr2 161348888 161348979 11101 3 RBMS1_chr2_161348240_161350818_F 1 . -1 -1 . -1 . . . . . . . chr2 161348888 161349309 11101 3 RBMS1_chr2_161348201_161348679_F 1 . -1 -1 . -1 . . . . . . . chr2 161350168 161350358 10101 1 RBMS1_chr2_161348201_161348679_F 1 . -1 -1 . -1 . . . . . . . chr2 169928689 169928945 10000 4 DHRS9_chr2_169930175_169930489_F 1 . -1 -1 . -1 . . . . . . . chr2 169930784 169930789 10000 4 DHRS9_chr2_169928584_169930533_F 1 . -1 -1 . -1 . . . . . . . chr2 170219027 170219272 11000 1 LRP2_chr2_170219794_170220267_F 1 . -1 -1 . -1 . . . . . . . chr2 171571254 171571445 10000 2 SP5_chr2_171672456_171674600_S:SP5_chr2_171943200_171943537_S 2 . -1 -1 . -1 . . . . . . . chr2 171571770 171571880 10000 1 SP5_chr2_171672456_171674600_S:SP5_chr2_171943200_171943537_S 2 . -1 -1 . -1 . . . . . . . chr2 173941951 173942070 10101 1 ZAK_chr2_173940064_173942232_F:ZAK_chr2_173941754_173942308_F 2 . -1 -1 . -1 . . . . . . . chr2 173942507 173942608 11101 4 ZAK_chr2_173940064_173942232_F 1 . -1 -1 . -1 . . . . . . . chr2 176866101 176866268 11000 2 KIAA1715_chr2_176866065_176867518_F:KIAA1715_chr2_176866139_176866392_F 2 . -1 -1 . -1 . . . . . . . chr2 176866977 176867146 11100 1 KIAA1715_chr2_176866139_176866392_F 1 . -1 -1 . -1 . . . . . . . chr2 176971868 176972125 10100 2 HOXD11_chr2_176969861_176970296_F 1 . -1 -1 . -1 . . . . . . . chr2 178029389 178029557 11101 1 ENSG00000236501_chr2_178032827_178033234_S:ENSG00000236501_chr2_178119200_178120200_S 2 . -1 -1 . -1 . . . . . . . chr2 178116825 178117139 11001 3 AGPS_chr2_178257113_178258031_S:NFE2L2_chr2_178127939_178130315_S:PDE11A_chr2_178977002_178977902_S 3 . -1 -1 . -1 . . . . . . . chr2 178128070 178128541 10101 3 NFE2L2_chr2_178032827_178033234_S:NFE2L2_chr2_178116800_178117200_S:NFE2L2_chr2_178119200_178120200_S:NFE2L2_chr2_178196813_178197142_S 4 . -1 -1 . -1 . . . . . . . chr2 178129477 178130109 10101 3 NFE2L2_chr2_178032827_178033234_S:NFE2L2_chr2_178116800_178117200_S:NFE2L2_chr2_178119200_178120200_S:NFE2L2_chr2_178196813_178197142_S 4 chr2 178130037 178130038 CR073551 - 3 DFP rs6721961 NFE2L2 Acute lung injury: association with TTCAGGGTGACTGCGAACACGAGCTGCCGG[C/A]GCTGTCCACATCTCCCCTAGGCAGGGCCCA 17384144 chr2 178129477 178130109 10101 3 NFE2L2_chr2_178032827_178033234_S:NFE2L2_chr2_178116800_178117200_S:NFE2L2_chr2_178119200_178120200_S:NFE2L2_chr2_178196813_178197142_S 4 chr2 178130073 178130074 CR1210189 - 3 DFP rs35652124 NFE2L2 Oligoasthenozoospermia: increased risk GGAGAATGGAGACACGTGGGAGTTCAGAGG[G/A]GGGCGTTCAGGGTGACTGCGAACACGAGCT 22648520 chr2 178257357 178257571 11101 1 AGPS_chr2_178116800_178117200_S 1 . -1 -1 . -1 . . . . . . . chr2 178977002 178977247 11000 2 PDE11A_chr2_178032827_178033234_S:PDE11A_chr2_178116800_178117200_S:PDE11A_chr2_178119200_178120200_S:PDE11A_chr2_178196813_178197142_S 4 . -1 -1 . -1 . . . . . . . chr2 190044372 190044506 10000 1 COL5A2_chr2_190043432_190043827_F 1 . -1 -1 . -1 . . . . . . . chr2 191512552 191513154 11000 2 NAB1_chr2_191512036_191512188_F 1 . -1 -1 . -1 . . . . . . . chr2 191513579 191513715 10000 1 NAB1_chr2_191512036_191512188_F 1 . -1 -1 . -1 . . . . . . . chr2 191878475 191878709 10100 3 STAT1_chr2_191880126_191880291_F 1 . -1 -1 . -1 . . . . . . . chr2 191878949 191879317 11100 3 STAT1_chr2_191880126_191880291_F 1 . -1 -1 . -1 . . . . . . . chr2 192109960 192110187 11101 1 MYO1B_chr2_192623228_192623793_S 1 . -1 -1 . -1 . . . . . . . chr2 192542713 192542919 11000 3 OBFC2A_chr2_192540623_192541368_F:OBFC2A_chr2_192544982_192545232_F 2 . -1 -1 . -1 . . . . . . . chr2 196521585 196522130 11100 3 SLC39A10_chr2_196523919_196524096_F 1 . -1 -1 . -1 . . . . . . . chr2 201168188 201168304 10000 1 SPATS2L_chr2_201167680_201171104_F:SPATS2L_chr2_201167680_201171485_F 2 . -1 -1 . -1 . . . . . . . chr2 201168188 201168367 10000 1 SPATS2L_chr2_201167757_201168004_F:SPATS2L_chr2_201167757_201168004_F 2 . -1 -1 . -1 . . . . . . . chr2 201170620 201171104 00000 2 SPATS2L_chr2_201167757_201168004_F 1 . -1 -1 . -1 . . . . . . . chr2 201170620 201171142 00000 2 SPATS2L_chr2_201167757_201168004_F 1 . -1 -1 . -1 . . . . . . . chr2 201231957 201232246 11000 4 NDUFB3_chr2_201934100_201934400_S 1 . -1 -1 . -1 . . . . . . . chr2 201270802 201270971 10000 1 BZW1_chr2_201675846_201677568_S 1 . -1 -1 . -1 . . . . . . . chr2 201827923 201828027 11100 1 ORC2_chr2_201829288_201829721_F 1 . -1 -1 . -1 . . . . . . . chr2 201828410 201828617 11101 1 ORC2_chr2_201829288_201829721_F 1 . -1 -1 . -1 . . . . . . . chr2 201934101 201934400 10000 2 NDUFB3_chr2_201231957_201232246_S 1 . -1 -1 . -1 . . . . . . . chr2 201980639 201981097 10000 3 CFLAR_chr2_201978583_201978718_F 1 . -1 -1 . -1 . . . . . . . chr2 201981371 201981377 10000 4 CFLAR_chr2_201978583_201978718_F 1 . -1 -1 . -1 . . . . . . . chr2 203130947 203131105 10100 1 NOP58_chr2_203131534_203131826_F 1 . -1 -1 . -1 . . . . . . . chr2 203500777 203500987 10101 1 FAM117B_chr2_203503987_203504299_F 1 . -1 -1 . -1 . . . . . . . chr2 204574245 204574418 11000 1 CD28_chr2_204575159_204575221_F 1 . -1 -1 . -1 . . . . . . . chr2 208028337 208028533 10001 1 KLF7_chr2_208027980_208028625_F:KLF7_chr2_208028102_208031114_F 2 . -1 -1 . -1 . . . . . . . chr2 208028432 208028533 10001 1 KLF7_chr2_208028885_208031114_F 1 . -1 -1 . -1 . . . . . . . chr2 208030375 208030566 11100 1 KLF7_chr2_208027980_208028625_F:KLF7_chr2_208028732_208029438_F 2 . -1 -1 . -1 . . . . . . . chr2 208030825 208031114 11101 2 KLF7_chr2_208027980_208028625_F:KLF7_chr2_208028732_208029438_F 2 . -1 -1 . -1 . . . . . . . chr2 208394501 208394633 11100 1 CREB1_chr2_208395422_208395980_F 1 chr2 208394571 208394572 CR108228 + 3 DFP rs146062007 CREB1 Major depressive disorder: association with ACCCGAAGGTCTTCGGCAAGTTCCGTCCCC[A/G]GCGCGGGGGCGGGGCCGCTCGAGCTGCTCC 20957653 chr2 211421065 211421662 11101 3 CPS1_chr2_211423571_211423754_F:CPS1_chr2_211423993_211424366_F 2 chr2 211421582 211421583 CD114399 + 5 DM NULL CPS1 Carbamoyl phosphate synthetase I deficiency CAAGACCTGGCATCAGGCTCCTTTCTGTCA[A/-]GGTAATACCCATATTGATTGTTTCTGATAA 21120950 chr2 211423130 211423713 11101 1 CPS1_chr2_211423571_211423754_F:CPS1_chr2_211423993_211424366_F 2 . -1 -1 . -1 . . . . . . . chr2 211423271 211423713 11101 1 CPS1_chr2_211420822_211423863_F 1 . -1 -1 . -1 . . . . . . . chr2 211423693 211423713 11101 1 CPS1_chr2_211420822_211424380_F 1 . -1 -1 . -1 . . . . . . . chr2 211423930 211424054 11101 2 CPS1_chr2_211420822_211423863_F 1 . -1 -1 . -1 . . . . . . . chr2 211423930 211424145 11101 2 CPS1_chr2_211420822_211424380_F:CPS1_chr2_211423993_211424366_F 2 . -1 -1 . -1 . . . . . . . chr2 211424376 211424380 11001 2 CPS1_chr2_211423993_211424366_F 1 . -1 -1 . -1 . . . . . . . chr2 211424376 211424571 11001 2 CPS1_chr2_211420822_211424380_F 1 . -1 -1 . -1 . . . . . . . chr2 216282092 216282545 11101 2 FN1_chr2_216299826_216301595_S 1 . -1 -1 . -1 . . . . . . . chr2 216285210 216285412 10000 2 FN1_chr2_216299826_216301595_S 1 . -1 -1 . -1 . . . . . . . chr2 216301000 216301319 11101 1 FN1_chr2_216281400_216282600_S:FN1_chr2_216284499_216285800_S 2 . -1 -1 . -1 . . . . . . . chr2 216877014 216877342 11101 1 MREG_chr2_216876838_216878846_F:MREG_chr2_216876845_216877231_F 2 . -1 -1 . -1 . . . . . . . chr2 216979546 216979600 11000 2 RPL37A_chr2_217362669_217364462_S 1 . -1 -1 . -1 . . . . . . . chr2 217363429 217363637 11000 1 RPL37A_chr2_216979546_216979600_S 1 . -1 -1 . -1 . . . . . . . chr2 218763240 218763337 10100 2 TNS1_chr2_219149000_219149666_S:TNS1_chr2_219150143_219150600_S:TNS1_chr2_219596020_219597620_S 3 . -1 -1 . -1 . . . . . . . chr2 218764921 218765056 10000 1 TNS1_chr2_219149000_219149666_S:TNS1_chr2_219150143_219150600_S:TNS1_chr2_219596020_219597620_S:TNS1_chr2_219598272_219598777_S:TNS1_chr2_219613466_219614179_S 5 . -1 -1 . -1 . . . . . . . chr2 218767214 218767822 10100 3 TNS1_chr2_219129113_219129800_S:TNS1_chr2_219149000_219149666_S:TNS1_chr2_219150143_219150600_S:TNS1_chr2_219596020_219597620_S:TNS1_chr2_219598272_219598777_S:TNS1_chr2_219598904_219599200_S 6 . -1 -1 . -1 . . . . . . . chr2 218807646 218807684 10000 2 TNS1_chr2_218806995_218809296_F 1 . -1 -1 . -1 . . . . . . . chr2 218807646 218807930 10000 2 TNS1_chr2_218804414_218804685_F:TNS1_chr2_218807007_218807384_F 2 . -1 -1 . -1 . . . . . . . chr2 218808780 218809004 10100 1 TNS1_chr2_219596020_219597620_S 1 . -1 -1 . -1 . . . . . . . chr2 218808780 218809051 10100 1 TNS1_chr2_218804414_218804685_F:TNS1_chr2_218807007_218807384_F 2 . -1 -1 . -1 . . . . . . . chr2 219129649 219129800 11101 2 SLC11A1_chr2_219262382_219266275_S:TMBIM1_chr2_219151234_219152240_S:TNS1_chr2_218764290_218764552_S:TNS1_chr2_218766654_218768310_S 4 . -1 -1 . -1 . . . . . . . chr2 219129800 219129845 11101 2 AAMP_chr2_219149000_219149666_S:AAMP_chr2_219150143_219150600_S:AAMP_chr2_219596020_219597620_S 3 . -1 -1 . -1 . . . . . . . chr2 219149000 219149257 11100 1 AAMP_chr2_219129800_219130321_S:ABCB6_chr2_220082360_220084316_S:CNPPD1_chr2_220042314_220043715_S:SLC11A1_chr2_219262382_219266275_S:TMBIM1_chr2_219151234_219152240_S:TMBIM1_chr2_219152432_219152670_S:TMBIM1_chr2_219156426_219157541_S:TNS1_chr2_218763240_218763337_S:TNS1_chr2_218764290_218764552_S:TNS1_chr2_218764921_218765056_S:TNS1_chr2_218766654_218768310_S 11 . -1 -1 . -1 . . . . . . . chr2 219150330 219150600 11000 2 AAMP_chr2_219129800_219130321_S:ABCB6_chr2_220082360_220084316_S:CNPPD1_chr2_220042314_220043715_S:SLC11A1_chr2_219262382_219266275_S:TMBIM1_chr2_219151234_219152240_S:TNS1_chr2_218763240_218763337_S:TNS1_chr2_218764290_218764552_S:TNS1_chr2_218764921_218765056_S:TNS1_chr2_218766654_218768310_S 9 . -1 -1 . -1 . . . . . . . chr2 219151780 219152031 10000 1 TMBIM1_chr2_219129113_219129800_S:TMBIM1_chr2_219149000_219149666_S:TMBIM1_chr2_219150143_219150600_S:TMBIM1_chr2_219596020_219597620_S:TMBIM1_chr2_219598272_219598777_S:TMBIM1_chr2_219598904_219599200_S:TMBIM1_chr2_219609835_219611780_S:TMBIM1_chr2_219613466_219614179_S:TMBIM1_chr2_220113094_220113400_S 9 . -1 -1 . -1 . . . . . . . chr2 219156502 219156618 10000 1 TMBIM1_chr2_219149000_219149666_S:TMBIM1_chr2_219596020_219597620_S:TMBIM1_chr2_219922996_219923643_S 3 . -1 -1 . -1 . . . . . . . chr2 219157128 219157307 10100 1 TMBIM1_chr2_219149000_219149666_S:TMBIM1_chr2_219596020_219597620_S:TMBIM1_chr2_219922996_219923643_S 3 . -1 -1 . -1 . . . . . . . chr2 219187506 219187982 10101 3 PNKD_chr2_219188663_219189129_F 1 . -1 -1 . -1 . . . . . . . chr2 219188732 219189097 10101 2 PNKD_chr2_219188663_219189129_F 1 . -1 -1 . -1 . . . . . . . chr2 219188732 219189257 10101 2 PNKD_chr2_219187401_219189097_F 1 . -1 -1 . -1 . . . . . . . chr2 219260804 219261186 10000 1 SLC11A1_chr2_219309252_219310200_S:SLC11A1_chr2_219596020_219597620_S:SLC11A1_chr2_219598272_219598777_S:SLC11A1_chr2_219613466_219614179_S 4 . -1 -1 . -1 . . . . . . . chr2 219261861 219261977 10000 1 SLC11A1_chr2_219309252_219310200_S:SLC11A1_chr2_219596020_219597620_S:SLC11A1_chr2_219598272_219598777_S:SLC11A1_chr2_219613466_219614179_S 4 . -1 -1 . -1 . . . . . . . chr2 219264498 219264661 10000 3 SLC11A1_chr2_219129113_219129800_S:SLC11A1_chr2_219149000_219149666_S:SLC11A1_chr2_219150143_219150600_S:SLC11A1_chr2_219596020_219597620_S:SLC11A1_chr2_219598272_219598777_S:SLC11A1_chr2_219609835_219611780_S:SLC11A1_chr2_219613466_219614179_S 7 . -1 -1 . -1 . . . . . . . chr2 219265757 219266025 10000 2 SLC11A1_chr2_219129113_219129800_S:SLC11A1_chr2_219149000_219149666_S:SLC11A1_chr2_219150143_219150600_S:SLC11A1_chr2_219596020_219597620_S:SLC11A1_chr2_219598272_219598777_S:SLC11A1_chr2_219609835_219611780_S:SLC11A1_chr2_219613466_219614179_S 7 . -1 -1 . -1 . . . . . . . chr2 219309416 219309786 11000 2 NHEJ1_chr2_220024880_220025792_S:SLC11A1_chr2_219260610_219262290_S:TNS1_chr2_218764290_218764552_S 3 . -1 -1 . -1 . . . . . . . chr2 219433051 219433590 11101 3 USP37_chr2_219434664_219435146_F 1 . -1 -1 . -1 . . . . . . . chr2 219433838 219434123 10101 1 USP37_chr2_219434664_219435146_F 1 . -1 -1 . -1 . . . . . . . chr2 219575462 219575619 10101 1 TTLL4_chr2_219596020_219597620_S 1 . -1 -1 . -1 . . . . . . . chr2 219596438 219596583 10000 1 AAMP_chr2_219129800_219130321_S:ABCB6_chr2_220070956_220074200_S:ABCB6_chr2_220082360_220084316_S:ANKZF1_chr2_220093583_220095222_S:BCS1L_chr2_219523416_219524853_S:CNPPD1_chr2_220042314_220043715_S:CYP27A1_chr2_219646280_219647511_S:CYP27A1_chr2_219671028_219671400_S:INHA_chr2_220435007_220437108_S:NHEJ1_chr2_220024880_220025792_S:SLC11A1_chr2_219260610_219262290_S:SLC11A1_chr2_219262382_219266275_S:STK11IP_chr2_220461851_220463248_S:TMBIM1_chr2_219151234_219152240_S:TMBIM1_chr2_219156426_219157541_S:TNS1_chr2_218763240_218763337_S:TNS1_chr2_218764290_218764552_S:TNS1_chr2_218764921_218765056_S:TNS1_chr2_218766654_218768310_S:TNS1_chr2_218808373_218809004_S:TTLL4_chr2_219575340_219576216_S 21 . -1 -1 . -1 . . . . . . . chr2 219597137 219597620 11100 2 AAMP_chr2_219129800_219130321_S:ABCB6_chr2_220070956_220074200_S:ABCB6_chr2_220082360_220084316_S:ANKZF1_chr2_220093583_220095222_S:BCS1L_chr2_219523416_219524853_S:CNPPD1_chr2_220042314_220043715_S:CYP27A1_chr2_219646280_219647511_S:CYP27A1_chr2_219671028_219671400_S:INHA_chr2_220435007_220437108_S:NHEJ1_chr2_220024880_220025792_S:SLC11A1_chr2_219260610_219262290_S:SLC11A1_chr2_219262382_219266275_S:STK11IP_chr2_220461851_220463248_S:TMBIM1_chr2_219151234_219152240_S:TMBIM1_chr2_219156426_219157541_S:TNS1_chr2_218763240_218763337_S:TNS1_chr2_218764290_218764552_S:TNS1_chr2_218764921_218765056_S:TNS1_chr2_218766654_218768310_S:TNS1_chr2_218808373_218809004_S:TTLL4_chr2_219575340_219576216_S 21 . -1 -1 . -1 . . . . . . . chr2 219598453 219598711 10000 3 SLC11A1_chr2_219260610_219262290_S:SLC11A1_chr2_219262382_219266275_S:TMBIM1_chr2_219151234_219152240_S:TNS1_chr2_218764290_218764552_S:TNS1_chr2_218764921_218765056_S:TNS1_chr2_218766654_218768310_S 6 . -1 -1 . -1 . . . . . . . chr2 219610010 219610210 10000 1 ABCB6_chr2_220070956_220074200_S:SLC11A1_chr2_219262382_219266275_S:STK11IP_chr2_220461851_220463248_S:TMBIM1_chr2_219151234_219152240_S:TNS1_chr2_218764290_218764552_S 5 . -1 -1 . -1 . . . . . . . chr2 219646027 219646155 11100 1 CYP27A1_chr2_219648056_219648806_F 1 . -1 -1 . -1 . . . . . . . chr2 219646662 219647405 11101 1 CYP27A1_chr2_219596020_219597620_S:CYP27A1_chr2_219648056_219648806_F 2 chr2 219646907 219646908 CM1311613 + 1 DM NULL CYP27A1 Cerebrotendinous xanthomatosis ccaaaggtgcaggcgcgcgagcacaacccA[T/C]GGCTGCGCTGGGCTGCGCGAGGCTGAGGTG 24174808 chr2 219646662 219647405 11101 1 CYP27A1_chr2_219596020_219597620_S:CYP27A1_chr2_219648056_219648806_F 2 chr2 219646910 219646911 CI952428 + 6 DM NULL CYP27A1 Cerebrotendinous xanthomatosis AGGTGCAGGCGCGCGAGCACAACCCATGGC[-/C]TGCGCTGGGCTGCGCGAGGCTGAGGTGGGC 7860076 chr2 219646662 219647405 11101 1 CYP27A1_chr2_219596020_219597620_S:CYP27A1_chr2_219648056_219648806_F 2 chr2 219646916 219646925 CD016076 + 5 DM NULL CYP27A1 Cerebrotendinous xanthomatosis CAGGCGCGCGAGCACAACCCATGGCTGCGC[TGGGCTGCGC/-]GAGGCTGAGGTGGGCGCTGCGAGGGGCCGG 11181744 chr2 219646662 219647405 11101 1 CYP27A1_chr2_219596020_219597620_S:CYP27A1_chr2_219648056_219648806_F 2 chr2 219646925 219646926 CI065820 + 6 DM NULL CYP27A1 Cerebrotendinous xanthomatosis AGCACAACCCATGGCTGCGCTGGGCTGCGC[-/TGGGCTGCGC]GAGGCTGAGGTGGGCGCTGCGAGGGGCCGG 17030721 chr2 219646662 219647405 11101 1 CYP27A1_chr2_219596020_219597620_S:CYP27A1_chr2_219648056_219648806_F 2 chr2 219646946 219646947 CM1312294 + 1 DM? NULL CYP27A1 Coronary artery disease TGGGCTGCGCGAGGCTGAGGTGGGCGCTGC[G/A]AGGGGCCGGCCGTGGCCTCTGCCCCCACGG 24080357 chr2 219646662 219647405 11101 1 CYP27A1_chr2_219596020_219597620_S:CYP27A1_chr2_219648056_219648806_F 2 chr2 219646978 219646979 CD119150 + 5 DM NULL CYP27A1 Cerebrotendinous xanthomatosis GGGGCCGGCCGTGGCCTCTGCCCCCACGGG[G/-]CCAGAGCCAAGGCCGCGATCCCTGCCGCCC 22018287 chr2 219646662 219647405 11101 1 CYP27A1_chr2_219596020_219597620_S:CYP27A1_chr2_219648056_219648806_F 2 chr2 219646982 219646983 CM1312295 + 1 DM? rs192494481 CYP27A1 Coronary artery disease CCGGCCGTGGCCTCTGCCCCCACGGGGCCA[G/A]AGCCAAGGCCGCGATCCCTGCCGCCCTCCC 24080357 chr2 219646662 219647405 11101 1 CYP27A1_chr2_219596020_219597620_S:CYP27A1_chr2_219648056_219648806_F 2 chr2 219646984 219646985 CM1312296 + 1 DM? NULL CYP27A1 Coronary artery disease GGCCGTGGCCTCTGCCCCCACGGGGCCAGA[G/A]CCAAGGCCGCGATCCCTGCCGCCCTCCCCT 24080357 chr2 219671100 219671347 10000 2 CYP27A1_chr2_219596020_219597620_S 1 . -1 -1 . -1 . . . . . . . chr2 220042478 220043001 11101 2 CNPPD1_chr2_219149000_219149666_S:CNPPD1_chr2_219150143_219150600_S:CNPPD1_chr2_219596020_219597620_S 3 . -1 -1 . -1 . . . . . . . chr2 220071232 220071919 11101 2 ABCB6_chr2_219596020_219597620_S:ABCB6_chr2_219609835_219611780_S 2 . -1 -1 . -1 . . . . . . . chr2 220073150 220073349 11000 1 ABCB6_chr2_219596020_219597620_S:ABCB6_chr2_219609835_219611780_S 2 . -1 -1 . -1 . . . . . . . chr2 220093910 220094075 11100 1 ANKZF1_chr2_219596020_219597620_S 1 . -1 -1 . -1 . . . . . . . chr2 220094449 220094675 11101 3 ANKZF1_chr2_219596020_219597620_S 1 . -1 -1 . -1 . . . . . . . chr2 220462394 220462578 11101 1 STK11IP_chr2_219596020_219597620_S:STK11IP_chr2_219609835_219611780_S:STK11IP_chr2_219613466_219614179_S 3 . -1 -1 . -1 . . . . . . . chr2 220462820 220463155 11100 1 STK11IP_chr2_219596020_219597620_S:STK11IP_chr2_219609835_219611780_S:STK11IP_chr2_219613466_219614179_S 3 . -1 -1 . -1 . . . . . . . chr2 222436564 222436639 11100 1 EPHA4_chr2_222435819_222437510_F 1 . -1 -1 . -1 . . . . . . . chr2 222436564 222436780 11100 1 EPHA4_chr2_222435699_222436339_F 1 . -1 -1 . -1 . . . . . . . chr2 225266316 225266495 10000 2 FAM124B_chr2_225270813_225271015_F 1 . -1 -1 . -1 . . . . . . . chr2 227343168 227343441 10000 1 AGFG1_chr2_228336600_228337937_S:IRS1_chr2_227663975_227666291_S 2 . -1 -1 . -1 . . . . . . . chr2 227597945 227598000 11101 4 AGFG1_chr2_228336600_228337937_S 1 . -1 -1 . -1 . . . . . . . chr2 227665240 227665536 11000 2 IRS1_chr2_227342609_227343558_S:IRS1_chr2_227663005_227665620_F:IRS1_chr2_227665142_227665696_F:IRS1_chr2_228315409_228316608_S:IRS1_chr2_228330711_228331800_S 5 . -1 -1 . -1 . . . . . . . chr2 227665891 227665996 11000 4 IRS1_chr2_227663005_227665620_F 1 . -1 -1 . -1 . . . . . . . chr2 227665891 227666291 11000 4 IRS1_chr2_227342609_227343558_S:IRS1_chr2_228315409_228316608_S:IRS1_chr2_228330711_228331800_S 3 . -1 -1 . -1 . . . . . . . chr2 228316160 228316404 11000 4 AGFG1_chr2_228336600_228337937_S:CCL20_chr2_228677708_228679601_S:IRS1_chr2_227663975_227666291_S 3 . -1 -1 . -1 . . . . . . . chr2 228331391 228331541 11100 1 AGFG1_chr2_228336600_228337937_S:CCL20_chr2_228677708_228679601_S:IRS1_chr2_227663975_227666291_S 3 . -1 -1 . -1 . . . . . . . chr2 228678311 228678597 10000 3 CCL20_chr2_228315409_228316608_S:CCL20_chr2_228330711_228331800_S:CCL20_chr2_228683600_228684371_S 3 . -1 -1 . -1 . . . . . . . chr2 228679108 228679353 11000 2 CCL20_chr2_228315409_228316608_S:CCL20_chr2_228330711_228331800_S:CCL20_chr2_228683600_228684371_S 3 . -1 -1 . -1 . . . . . . . chr2 228683623 228683852 10000 2 AGFG1_chr2_228336600_228337937_S:CCL20_chr2_228677708_228679601_S 2 . -1 -1 . -1 . . . . . . . chr2 230135556 230135600 10101 1 PID1_chr2_230138474_230138658_F 1 . -1 -1 . -1 . . . . . . . chr2 230138445 230138700 11000 3 PID1_chr2_230135556_230138767_F:PID1_chr2_230138474_230138658_F 2 . -1 -1 . -1 . . . . . . . chr2 231912421 231912551 10101 1 NCL_chr2_232328375_232330266_S:PTMA_chr2_232570803_232576076_S 2 . -1 -1 . -1 . . . . . . . chr2 231913393 231913456 11100 1 NCL_chr2_232328375_232330266_S:PTMA_chr2_232570803_232576076_S 2 . -1 -1 . -1 . . . . . . . chr2 232329196 232329320 10000 1 NCL_chr2_231912000_231913456_S 1 . -1 -1 . -1 . . . . . . . chr2 232571634 232571789 10000 1 PTMA_chr2_231912000_231913456_S:PTMA_chr2_233439200_233440091_S 2 . -1 -1 . -1 . . . . . . . chr2 232572655 232572802 10000 1 PTMA_chr2_231912000_231913456_S:PTMA_chr2_233439200_233440091_S 2 . -1 -1 . -1 . . . . . . . chr2 232573072 232573303 10000 1 PTMA_chr2_231912000_231913456_S:PTMA_chr2_233439200_233440091_S 2 . -1 -1 . -1 . . . . . . . chr2 232574996 232575222 10000 1 PTMA_chr2_231912000_231913456_S:PTMA_chr2_233439200_233440091_S 2 . -1 -1 . -1 . . . . . . . chr2 233439411 233439819 10000 3 PTMA_chr2_232570803_232576076_S 1 . -1 -1 . -1 . . . . . . . chr2 233497706 233497893 10000 1 EFHD1_chr2_233499533_233499991_F 1 . -1 -1 . -1 . . . . . . . chr2 233721208 233721476 10000 2 ATG16L1_chr2_234160042_234161225_S:C2orf82_chr2_233722200_233722600_S:NGEF_chr2_233877097_233878219_S 3 . -1 -1 . -1 . . . . . . . chr2 233721826 233722200 11100 3 ATG16L1_chr2_234160042_234161225_S:C2orf82_chr2_233722200_233722600_S:NGEF_chr2_233877097_233878219_S 3 . -1 -1 . -1 . . . . . . . chr2 233722200 233722252 11100 3 C2orf82_chr2_233721123_233722200_S 1 . -1 -1 . -1 . . . . . . . chr2 233877188 233877394 11001 2 NGEF_chr2_233721123_233722200_S:NGEF_chr2_233876295_233876308_F 2 . -1 -1 . -1 . . . . . . . chr2 233877911 233878152 11101 4 NGEF_chr2_233721123_233722200_S:NGEF_chr2_233876295_233876308_F 2 . -1 -1 . -1 . . . . . . . chr2 235861635 235861816 10000 1 SH3BP4_chr2_235862299_235862667_F:SH3BP4_chr2_235863329_235863490_F 2 . -1 -1 . -1 . . . . . . . chr2 235863721 235863790 11000 1 SH3BP4_chr2_235860127_235863610_F 1 . -1 -1 . -1 . . . . . . . chr2 235889812 235890381 10001 3 SH3BP4_chr2_236413220_236413800_S 1 . -1 -1 . -1 . . . . . . . chr2 236404328 236404456 11000 1 AGAP1_chr2_236402232_236404874_F:AGAP1_chr2_236404372_236404974_F 2 . -1 -1 . -1 . . . . . . . chr2 238392170 238392321 11000 1 MLPH_chr2_238392013_238396378_F:MLPH_chr2_238392046_238392381_F 2 . -1 -1 . -1 . . . . . . . chr2 238393986 238394138 10000 1 MLPH_chr2_238392046_238392381_F 1 . -1 -1 . -1 . . . . . . . chr2 238395774 238395950 11000 1 MLPH_chr2_238392046_238392381_F 1 . -1 -1 . -1 . . . . . . . chr2 238494341 238494621 10000 1 ASB1_chr2_239344000_239344157_S:PER2_chr2_239171600_239172296_S 2 . -1 -1 . -1 . . . . . . . chr2 238498915 238499855 11000 2 RAB17_chr2_239358409_239359200_S 1 . -1 -1 . -1 . . . . . . . chr2 238596498 238596655 10000 2 LRRFIP1_chr2_238596312_238601307_F:LRRFIP1_chr2_238596328_238596696_F 2 . -1 -1 . -1 . . . . . . . chr2 238600799 238601010 11000 1 LRRFIP1_chr2_238596328_238596696_F:LRRFIP1_chr2_238598036_238598427_F 2 . -1 -1 . -1 . . . . . . . chr2 238875256 238875652 10000 2 UBE2F_chr2_238876433_238876638_F 1 . -1 -1 . -1 . . . . . . . chr2 239171789 239172296 10100 2 PER2_chr2_238494000_238494800_S:PER2_chr2_239358409_239359200_S 2 . -1 -1 . -1 . . . . . . . chr2 239358587 239358942 11000 3 ASB1_chr2_239344000_239344157_S:PER2_chr2_239171600_239172296_S:RAB17_chr2_238498911_238499855_S 3 . -1 -1 . -1 . . . . . . . chr2 240321689 240321803 10000 1 HDAC4_chr2_240321494_240323143_F:HDAC4_chr2_240321591_240321797_F 2 . -1 -1 . -1 . . . . . . . chr2 240322606 240322909 10101 2 HDAC4_chr2_240321591_240321797_F 1 . -1 -1 . -1 . . . . . . . chr2 241374646 241374767 10000 1 GPC1_chr2_241373489_241373922_F:GPC1_chr2_241374121_241375615_F:GPC1_chr2_241374162_241374480_F 3 . -1 -1 . -1 . . . . . . . chr2 241813506 241813848 10000 1 ATG4B_chr2_242575703_242577590_S:HDLBP_chr2_242253810_242256467_S:ING5_chr2_242640543_242642694_S:NEU4_chr2_242749728_242751333_S:STK25_chr2_242446852_242449097_S 5 . -1 -1 . -1 . . . . . . . chr2 242040842 242041042 10000 1 MTERFD2_chr2_242592600_242593347_S 1 . -1 -1 . -1 . . . . . . . chr2 242041697 242041853 10000 1 MTERFD2_chr2_242592600_242593347_S 1 . -1 -1 . -1 . . . . . . . chr2 242254561 242254685 11101 1 HDLBP_chr2_241813148_241814505_S 1 . -1 -1 . -1 . . . . . . . chr2 242255098 242255359 11101 2 HDLBP_chr2_241813148_241814505_S 1 . -1 -1 . -1 . . . . . . . chr2 242448099 242448244 10100 1 STK25_chr2_241813148_241814505_S:STK25_chr2_242592600_242593347_S 2 . -1 -1 . -1 . . . . . . . chr2 242498037 242498166 10100 1 BOK_chr2_242500447_242500594_F 1 . -1 -1 . -1 . . . . . . . chr2 242499319 242499577 10100 3 BOK_chr2_242500447_242500594_F 1 . -1 -1 . -1 . . . . . . . chr2 242500495 242500718 10100 1 BOK_chr2_242497645_242500721_F:BOK_chr2_242500447_242500594_F 2 . -1 -1 . -1 . . . . . . . chr2 242575986 242576219 11000 1 ATG4B_chr2_241813148_241814505_S 1 . -1 -1 . -1 . . . . . . . chr2 242577032 242577175 11101 1 ATG4B_chr2_241813148_241814505_S 1 . -1 -1 . -1 . . . . . . . chr2 242750091 242750398 00000 1 NEU4_chr2_241813148_241814505_S 1 . -1 -1 . -1 . . . . . . . chr3 8486111 8486435 10010 4 SETD5_chr3_9464366_9465130_S 1 . -1 -1 . -1 . . . . . . . chr3 9464427 9464673 11111 3 SETD5_chr3_10245200_10246340_S:SETD5_chr3_8486000_8486758_S 2 . -1 -1 . -1 . . . . . . . chr3 10245668 10245975 11000 3 SETD5_chr3_9464366_9465130_S 1 . -1 -1 . -1 . . . . . . . chr3 10546755 10546906 11010 1 ATP2B2_chr3_10545766_10546079_F 1 . -1 -1 . -1 . . . . . . . chr3 10547692 10547768 11100 1 ATP2B2_chr3_10545766_10546079_F 1 . -1 -1 . -1 . . . . . . . chr3 11313946 11314163 11010 2 ATG7_chr3_11314967_11316155_F 1 chr3 11314041 11314042 CR130996 + 3 DM? rs77630528 ATG7 Parkinson disease TTTGCGCACGCGCGCCGCTTCCCAGTGGCA[G/A]GCGCGGGCAGGACCGCGTTGCGTCATCGGG 23295909 chr3 12392710 12393135 11111 4 PPARG_chr3_12395386_12395555_F 1 chr3 12393125 12393126 CM981614 + 1 DFP rs1801282 PPARG Obesity: association with GGTGAAACTCTGGGAGATTCTCCTATTGAC[C/G]CAGAAAGCGATTCCTTCACTGATACACTGT 9792554 chr3 12395401 12395636 11111 2 PPARG_chr3_12392500_12395671_F:PPARG_chr3_12395386_12395555_F 2 . -1 -1 . -1 . . . . . . . chr3 14166321 14166571 10000 2 TMEM43_chr3_14167210_14167731_F 1 . -1 -1 . -1 . . . . . . . chr3 15839419 15839538 11000 1 ANKRD28_chr3_15835826_15836097_F 1 . -1 -1 . -1 . . . . . . . chr3 15900552 15900686 11000 4 ANKRD28_chr3_15901875_15902313_F 1 . -1 -1 . -1 . . . . . . . chr3 16215950 16216179 11000 1 GALNTL2_chr3_16218160_16218375_F:GALNTL2_chr3_16219854_16220197_F 2 . -1 -1 . -1 . . . . . . . chr3 20081457 20081567 11100 1 KAT2B_chr3_20082717_20083237_F 1 . -1 -1 . -1 . . . . . . . chr3 20083074 20083178 11100 2 KAT2B_chr3_20082717_20083237_F 1 . -1 -1 . -1 . . . . . . . chr3 20083074 20083255 11100 2 KAT2B_chr3_20081023_20083178_F 1 . -1 -1 . -1 . . . . . . . chr3 30647757 30648189 11100 2 TGFBR2_chr3_30646968_30647109_F 1 chr3 30648039 30648040 CR064484 + 3 DM? NULL TGFBR2 Marfan syndrome II TCTCGGGCGGAGAGAGGTCCTGCCCAGCTG[T/A]TGGCGAGGAGTTTCCTGTTTCCCCCGCAGC 16799921 chr3 32281871 32281882 11000 1 CMTM8_chr3_31329725_31330743_S 1 . -1 -1 . -1 . . . . . . . chr3 33839687 33840190 11000 2 PDCD6IP_chr3_33837400_33837658_F 1 . -1 -1 . -1 . . . . . . . chr3 37901939 37902351 11100 2 CTDSPL_chr3_37901883_37902306_F:CTDSPL_chr3_37901894_37904169_F 2 . -1 -1 . -1 . . . . . . . chr3 38206525 38206578 11100 1 OXSR1_chr3_38207945_38208258_F:OXSR1_chr3_38209266_38209592_F:OXSR1_chr3_38210566_38210752_F 3 . -1 -1 . -1 . . . . . . . chr3 38206918 38207193 11101 1 OXSR1_chr3_38207945_38208258_F:OXSR1_chr3_38209266_38209592_F:OXSR1_chr3_38210566_38210752_F 3 . -1 -1 . -1 . . . . . . . chr3 38207717 38207847 11000 1 OXSR1_chr3_38206525_38208302_F:OXSR1_chr3_38207945_38208258_F:OXSR1_chr3_38209266_38209592_F:OXSR1_chr3_38210566_38210752_F 4 . -1 -1 . -1 . . . . . . . chr3 39195125 39195366 11000 1 CSRNP1_chr3_39192381_39192719_F 1 . -1 -1 . -1 . . . . . . . chr3 42003415 42004001 10000 2 ULK4_chr3_42002407_42002746_F 1 . -1 -1 . -1 . . . . . . . chr3 46037201 46037424 11111 2 FYCO1_chr3_46035131_46035483_F:FYCO1_chr3_46036343_46036779_F 2 . -1 -1 . -1 . . . . . . . chr3 46446815 46447000 10000 2 CCRL2_chr3_46445679_46445962_F:CCRL2_chr3_46445679_46445962_F:CCRL2_chr3_46446451_46447230_F:CCRL2_chr3_46446451_46447230_F:CCRL2_chr3_46446640_46449221_F:CCRL2_chr3_46446640_46449549_F 6 . -1 -1 . -1 . . . . . . . chr3 46607640 46607837 11000 1 LRRC2_chr3_46606309_46606464_F 1 . -1 -1 . -1 . . . . . . . chr3 46989525 46989973 11000 3 SCAP_chr3_47516600_47517813_S 1 . -1 -1 . -1 . . . . . . . chr3 46990798 46990953 10000 1 SCAP_chr3_47516600_47517813_S 1 . -1 -1 . -1 . . . . . . . chr3 47204004 47204162 10100 1 SETD2_chr3_47201175_47201471_F 1 . -1 -1 . -1 . . . . . . . chr3 47204750 47204893 10110 1 SETD2_chr3_47201175_47201471_F 1 . -1 -1 . -1 . . . . . . . chr3 47205548 47205789 10110 1 SETD2_chr3_47201175_47201471_F 1 . -1 -1 . -1 . . . . . . . chr3 47516600 47516819 10000 2 SCAP_chr3_46989400_46991200_S 1 . -1 -1 . -1 . . . . . . . chr3 47517346 47517595 10000 1 SCAP_chr3_46989400_46991200_S 1 . -1 -1 . -1 . . . . . . . chr3 47844580 47844727 11101 1 DHX30_chr3_47845454_47845505_F 1 . -1 -1 . -1 . . . . . . . chr3 48594405 48594567 11111 1 PFKFB4_chr3_48595913_48596471_F 1 . -1 -1 . -1 . . . . . . . chr3 48595685 48595834 11000 1 PFKFB4_chr3_48593726_48596393_F:PFKFB4_chr3_48595913_48596471_F 2 . -1 -1 . -1 . . . . . . . chr3 49708710 49708939 11111 2 ENSG00000114353_chr3_50297405_50298700_S 1 . -1 -1 . -1 . . . . . . . chr3 49709241 49709316 11100 1 ENSG00000114353_chr3_50297405_50298700_S 1 . -1 -1 . -1 . . . . . . . chr3 50239095 50239584 11111 2 SLC38A3_chr3_50239276_50243192_F 1 . -1 -1 . -1 . . . . . . . chr3 50239276 50239584 11111 2 SLC38A3_chr3_50239388_50239565_F 1 . -1 -1 . -1 . . . . . . . chr3 50240929 50241058 11111 1 SLC38A3_chr3_50239388_50239565_F 1 . -1 -1 . -1 . . . . . . . chr3 50243420 50243675 11111 2 SLC38A3_chr3_50242191_50243785_F:SLC38A3_chr3_50243484_50243685_F 2 . -1 -1 . -1 . . . . . . . chr3 50273146 50273456 11101 1 GNAI2_chr3_50274525_50274666_F 1 chr3 50273450 50273451 CR065640 + 3 FP NULL GNAI2 Altered transcriptional activity CCTTTTCTCCGCGTGGCCCCGCCTGCAGCC[C/G]AGGCCCGAGCCTGGGCTGCGCCTAACTTCC 16565233 chr3 50649216 50649703 11111 2 CISH_chr3_50650716_50650897_F 1 chr3 50649499 50649500 CR109400 - 3 DFP rs414171 CISH Bacteraemia: malaria: and tuberculosis: susceptibility to: association with CACGCGCTGCTATTGGCCCTCCCCGACCGC[T/A]CGGCTCCACCTTCAGCGTCGCGATTGGTCA 20484391 chr3 50654121 50654235 10010 1 MAPKAPK3_chr3_50650716_50650897_F:MAPKAPK3_chr3_50657930_50658131_F 2 . -1 -1 . -1 . . . . . . . chr3 52016426 52016778 10101 1 ABHD14B_chr3_52332240_52334127_S:ABHD14B_chr3_52715811_52716167_S 2 . -1 -1 . -1 . . . . . . . chr3 52017234 52017658 10111 1 ABHD14B_chr3_52332240_52334127_S:ABHD14B_chr3_52715811_52716167_S 2 . -1 -1 . -1 . . . . . . . chr3 52091495 52091619 11100 2 DUSP7_chr3_52091161_52091675_F 1 . -1 -1 . -1 . . . . . . . chr3 52091495 52091688 11100 2 DUSP7_chr3_52089960_52091619_F 1 . -1 -1 . -1 . . . . . . . chr3 52244717 52245004 11110 3 WDR82_chr3_52325638_52325730_S 1 . -1 -1 . -1 . . . . . . . chr3 52271913 52272057 10000 1 TWF2_chr3_52271529_52273683_F:TWF2_chr3_52271619_52271840_F 2 . -1 -1 . -1 . . . . . . . chr3 52272200 52272522 10000 1 TWF2_chr3_52271619_52271840_F 1 . -1 -1 . -1 . . . . . . . chr3 52273209 52273364 10100 1 TWF2_chr3_52271619_52271840_F 1 . -1 -1 . -1 . . . . . . . chr3 52716074 52716167 11111 3 ABHD14B_chr3_52016426_52017791_S:WDR82_chr3_52325638_52325730_S 2 . -1 -1 . -1 . . . . . . . chr3 53381587 53381785 11111 1 DCP1A_chr3_53380883_53380907_F 1 . -1 -1 . -1 . . . . . . . chr3 53876927 53877250 11111 4 CHDH_chr3_53876948_53880920_F 1 . -1 -1 . -1 . . . . . . . chr3 53876948 53877250 11111 4 CHDH_chr3_53876999_53877298_F 1 . -1 -1 . -1 . . . . . . . chr3 53877413 53877598 11000 1 CHDH_chr3_53876948_53880920_F 1 . -1 -1 . -1 . . . . . . . chr3 53877413 53877703 11000 1 CHDH_chr3_53876999_53877298_F 1 . -1 -1 . -1 . . . . . . . chr3 53878794 53879114 11111 1 CHDH_chr3_53876999_53877298_F 1 . -1 -1 . -1 . . . . . . . chr3 53880330 53880583 11100 1 CHDH_chr3_53876999_53877298_F 1 . -1 -1 . -1 . . . . . . . chr3 55520149 55520339 11000 1 WNT5A_chr3_55518078_55518594_F 1 . -1 -1 . -1 . . . . . . . chr3 55520599 55520726 10000 1 WNT5A_chr3_55518078_55518594_F 1 . -1 -1 . -1 . . . . . . . chr3 57436616 57436793 10000 1 RPP14_chr3_58291792_58293068_S 1 . -1 -1 . -1 . . . . . . . chr3 58007812 58007927 10000 1 RPP14_chr3_58291792_58293068_S 1 . -1 -1 . -1 . . . . . . . chr3 58025933 58026134 11011 2 RPP14_chr3_58291792_58293068_S 1 . -1 -1 . -1 . . . . . . . chr3 58027872 58028004 11000 1 RPP14_chr3_58291792_58293068_S 1 . -1 -1 . -1 . . . . . . . chr3 58034255 58034422 11000 1 RPP14_chr3_58291792_58293068_S 1 . -1 -1 . -1 . . . . . . . chr3 58045300 58045686 11111 3 RPP14_chr3_58291792_58293068_S 1 . -1 -1 . -1 . . . . . . . chr3 58053920 58054030 10000 1 RPP14_chr3_58291792_58293068_S 1 . -1 -1 . -1 . . . . . . . chr3 58087667 58087967 11010 3 RPP14_chr3_58291792_58293068_S 1 . -1 -1 . -1 . . . . . . . chr3 58088754 58088984 11010 1 RPP14_chr3_58291792_58293068_S 1 . -1 -1 . -1 . . . . . . . chr3 58179189 58179400 11000 3 RPP14_chr3_58291792_58293068_S 1 . -1 -1 . -1 . . . . . . . chr3 58200432 58200733 11001 2 DNASE1L3_chr3_58202964_58203031_F 1 . -1 -1 . -1 . . . . . . . chr3 58203015 58203198 11100 1 DNASE1L3_chr3_58202964_58203031_F 1 . -1 -1 . -1 . . . . . . . chr3 58203015 58203331 11100 1 DNASE1L3_chr3_58199897_58203198_F 1 . -1 -1 . -1 . . . . . . . chr3 58291814 58292043 11101 3 RPP14_chr3_57436081_57437530_S:RPP14_chr3_57946966_57947898_S:RPP14_chr3_57977870_57979000_S:RPP14_chr3_58007200_58007927_S:RPP14_chr3_58025800_58026400_S:RPP14_chr3_58027600_58028200_S:RPP14_chr3_58028600_58028894_S:RPP14_chr3_58034061_58035724_S:RPP14_chr3_58044335_58046089_S:RPP14_chr3_58051212_58051868_S:RPP14_chr3_58053800_58054200_S:RPP14_chr3_58087231_58089327_S:RPP14_chr3_58178896_58179400_S 13 . -1 -1 . -1 . . . . . . . chr3 58292872 58293037 10101 1 RPP14_chr3_57436081_57437530_S:RPP14_chr3_57946966_57947898_S:RPP14_chr3_57977870_57979000_S:RPP14_chr3_58007200_58007927_S:RPP14_chr3_58025800_58026400_S:RPP14_chr3_58027600_58028200_S:RPP14_chr3_58028600_58028894_S:RPP14_chr3_58034061_58035724_S:RPP14_chr3_58044335_58046089_S:RPP14_chr3_58051212_58051868_S:RPP14_chr3_58053800_58054200_S:RPP14_chr3_58087231_58089327_S:RPP14_chr3_58178896_58179400_S 13 . -1 -1 . -1 . . . . . . . chr3 66024156 66024718 11111 1 MAGI1_chr3_66022863_66023161_F 1 . -1 -1 . -1 . . . . . . . chr3 67048470 67048586 00000 1 KBTBD8_chr3_67050514_67050733_F 1 . -1 -1 . -1 . . . . . . . chr3 67049160 67049281 00000 1 KBTBD8_chr3_67050514_67050733_F 1 . -1 -1 . -1 . . . . . . . chr3 69788389 69788524 11111 1 MITF_chr3_69789363_69789667_F:MITF_chr3_69790676_69790712_F 2 . -1 -1 . -1 . . . . . . . chr3 71773830 71773949 11100 1 EIF4E3_chr3_71771089_71771328_F:EIF4E3_chr3_71772738_71773033_F 2 . -1 -1 . -1 . . . . . . . chr3 98450618 98450769 11000 1 ST3GAL6_chr3_98449231_98449446_F 1 . -1 -1 . -1 . . . . . . . chr3 98451061 98451371 11100 4 ST3GAL6_chr3_98449231_98449446_F 1 . -1 -1 . -1 . . . . . . . chr3 101405587 101405991 10101 3 RPL24_chr3_101403455_101403770_F 1 . -1 -1 . -1 . . . . . . . chr3 101546513 101547391 11101 2 NFKBIZ_chr3_101547647_101547882_F 1 . -1 -1 . -1 . . . . . . . chr3 101547347 101547391 11101 2 NFKBIZ_chr3_101546333_101547965_F 1 . -1 -1 . -1 . . . . . . . chr3 101548023 101548182 11000 1 NFKBIZ_chr3_101546333_101547965_F 1 . -1 -1 . -1 . . . . . . . chr3 105084362 105084500 10001 1 ALCAM_chr3_105081269_105081374_F 1 . -1 -1 . -1 . . . . . . . chr3 105085284 105085790 11101 2 ALCAM_chr3_105081269_105081374_F:ALCAM_chr3_105087916_105088171_F:ALCAM_chr3_105088270_105088514_F 3 . -1 -1 . -1 . . . . . . . chr3 105086453 105086919 11100 2 ALCAM_chr3_105087916_105088171_F:ALCAM_chr3_105088270_105088514_F 2 . -1 -1 . -1 . . . . . . . chr3 105087595 105088012 11001 2 ALCAM_chr3_105087916_105088171_F:ALCAM_chr3_105088270_105088514_F 2 . -1 -1 . -1 . . . . . . . chr3 105087616 105088012 11001 2 ALCAM_chr3_105085056_105088244_F 1 . -1 -1 . -1 . . . . . . . chr3 105087970 105088012 11001 2 ALCAM_chr3_105085056_105088593_F 1 . -1 -1 . -1 . . . . . . . chr3 107809900 107810059 10100 2 CD47_chr3_107807468_107807936_F 1 . -1 -1 . -1 . . . . . . . chr3 111451195 111451420 11101 4 PHLDB2_chr3_111454124_111454225_F 1 . -1 -1 . -1 . . . . . . . chr3 111452005 111452446 11101 2 PHLDB2_chr3_111454124_111454225_F 1 . -1 -1 . -1 . . . . . . . chr3 111454333 111454375 11001 3 PHLDB2_chr3_111454124_111454225_F 1 . -1 -1 . -1 . . . . . . . chr3 111454333 111454525 11001 3 PHLDB2_chr3_111450826_111454375_F 1 . -1 -1 . -1 . . . . . . . chr3 114102772 114102964 11101 1 ZBTB20_chr3_114100743_114101091_F 1 . -1 -1 . -1 . . . . . . . chr3 119281193 119281343 10000 1 CD80_chr3_119277980_119281657_F:CD80_chr3_119281143_119281770_F 2 . -1 -1 . -1 . . . . . . . chr3 122043744 122043941 11000 1 CSTA_chr3_122041409_122041544_F 1 . -1 -1 . -1 . . . . . . . chr3 122512287 122512834 11000 3 HSPBAP1_chr3_122516218_122516436_F 1 . -1 -1 . -1 . . . . . . . chr3 122513883 122514011 11000 1 DIRC2_chr3_122516218_122516436_F:HSPBAP1_chr3_122516218_122516436_F 2 . -1 -1 . -1 . . . . . . . chr3 122785663 122786165 11101 1 PDIA5_chr3_122787344_122787648_F 1 . -1 -1 . -1 . . . . . . . chr3 122787268 122787697 11101 4 PDIA5_chr3_122787344_122787648_F 1 . -1 -1 . -1 . . . . . . . chr3 122787268 122787948 11101 4 PDIA5_chr3_122785355_122787697_F 1 . -1 -1 . -1 . . . . . . . chr3 123303904 123304125 11101 2 PTPLB_chr3_123304962_123305362_F 1 . -1 -1 . -1 . . . . . . . chr3 124605430 124605640 10101 1 ITGB5_chr3_124604996_124606644_F:ITGB5_chr3_124605050_124605342_F 2 . -1 -1 . -1 . . . . . . . chr3 124606127 124606360 10001 1 ITGB5_chr3_124605050_124605342_F 1 . -1 -1 . -1 . . . . . . . chr3 124773293 124773599 11101 4 HEG1_chr3_124770854_124771405_F 1 . -1 -1 . -1 . . . . . . . chr3 124774924 124775302 11100 3 HEG1_chr3_124770854_124771405_F 1 . -1 -1 . -1 . . . . . . . chr3 126074706 126075048 11110 3 KLF15_chr3_126074943_126076736_F 1 . -1 -1 . -1 . . . . . . . chr3 126074943 126075048 11110 3 KLF15_chr3_126074775_126075511_F 1 . -1 -1 . -1 . . . . . . . chr3 127539167 127539530 10000 3 MGLL_chr3_127539439_127542201_F:MGLL_chr3_127539439_127542551_F 2 . -1 -1 . -1 . . . . . . . chr3 127539439 127539530 10000 3 MGLL_chr3_127539467_127539812_F:MGLL_chr3_127539467_127539812_F 2 . -1 -1 . -1 . . . . . . . chr3 127542189 127542201 10010 1 MGLL_chr3_127539467_127539812_F 1 . -1 -1 . -1 . . . . . . . chr3 127542189 127542317 10010 1 MGLL_chr3_127539467_127539812_F 1 . -1 -1 . -1 . . . . . . . chr3 128838450 128838875 11111 4 RAB43_chr3_128837764_128838022_F:RAB43_chr3_128837764_128838022_F:RAB43_chr3_128837764_128838022_F:RAB43_chr3_128837764_128838022_F:RAB43_chr3_128838403_128841147_F:RAB43_chr3_128838403_128841265_F:RAB43_chr3_128838403_128841357_F:RAB43_chr3_128838403_128841493_F:RAB43_chr3_128838520_128838686_F:RAB43_chr3_128838520_128838686_F:RAB43_chr3_128838520_128838686_F:RAB43_chr3_128838520_128838686_F 12 . -1 -1 . -1 . . . . . . . chr3 128838519 128838840 11111 4 RAB43_chr3_129317200_129317399_S 1 . -1 -1 . -1 . . . . . . . chr3 128839303 128839667 11111 2 RAB43_chr3_128837764_128838022_F:RAB43_chr3_128837764_128838022_F:RAB43_chr3_128837764_128838022_F:RAB43_chr3_128837764_128838022_F:RAB43_chr3_128838520_128838686_F:RAB43_chr3_128838520_128838686_F:RAB43_chr3_128838520_128838686_F:RAB43_chr3_128838520_128838686_F 8 . -1 -1 . -1 . . . . . . . chr3 128840769 128841117 11100 1 RAB43_chr3_128837764_128838022_F:RAB43_chr3_128837764_128838022_F:RAB43_chr3_128837764_128838022_F:RAB43_chr3_128837764_128838022_F:RAB43_chr3_128838520_128838686_F:RAB43_chr3_128838520_128838686_F:RAB43_chr3_128838520_128838686_F:RAB43_chr3_128838520_128838686_F 8 . -1 -1 . -1 . . . . . . . chr3 133449915 133450107 11000 3 TF_chr3_133464590_133466028_S 1 . -1 -1 . -1 . . . . . . . chr3 133464993 133465260 11000 3 TF_chr3_133449890_133450107_S 1 chr3 133465201 133465202 CR043390 + 3 FP rs8177186 TF Altered promoter activity CAAAGATTGCGCCCAGCCCGCCCAGGCCGG[G/T]AATGGAATAAAGGGACGCGGGGCGCCGGAG 15511631 chr3 134204074 134204159 10000 1 CEP63_chr3_134206320_134206511_F 1 . -1 -1 . -1 . . . . . . . chr3 134204808 134205307 10101 2 CEP63_chr3_134206320_134206511_F:CEP63_chr3_134206320_134206511_F:CEP63_chr3_134206320_134206511_F 3 . -1 -1 . -1 . . . . . . . chr3 142164610 142165022 11000 3 XRN1_chr3_142164400_142165110_F:XRN1_chr3_142164555_142167353_F 2 . -1 -1 . -1 . . . . . . . chr3 142166167 142166355 11000 1 XRN1_chr3_142164400_142165110_F 1 . -1 -1 . -1 . . . . . . . chr3 142166833 142167165 11101 2 XRN1_chr3_142164400_142165110_F 1 . -1 -1 . -1 . . . . . . . chr3 143692210 143692320 10101 1 C3orf58_chr3_143693787_143694146_F:C3orf58_chr3_143693787_143694146_F:C3orf58_chr3_143696383_143696503_F 3 . -1 -1 . -1 . . . . . . . chr3 143692696 143692826 11101 1 C3orf58_chr3_143693787_143694146_F:C3orf58_chr3_143693787_143694146_F:C3orf58_chr3_143696383_143696503_F 3 . -1 -1 . -1 . . . . . . . chr3 145878892 145879202 11000 2 PLOD2_chr3_145883195_145883481_F 1 . -1 -1 . -1 . . . . . . . chr3 145881463 145881682 10000 2 PLOD2_chr3_145883195_145883481_F 1 . -1 -1 . -1 . . . . . . . chr3 146262287 146262527 11000 3 PLSCR1_chr3_146259909_146260381_F 1 . -1 -1 . -1 . . . . . . . chr3 149192225 149192474 10000 4 TM4SF4_chr3_149194266_149194620_F 1 . -1 -1 . -1 . . . . . . . chr3 149194142 149194465 10000 3 TM4SF4_chr3_149191867_149194644_F:TM4SF4_chr3_149194266_149194620_F 2 . -1 -1 . -1 . . . . . . . chr3 149470216 149470516 11100 2 COMMD2_chr3_150454800_150457007_S:COMMD2_chr3_150457243_150458902_S 2 . -1 -1 . -1 . . . . . . . chr3 149530045 149530537 10000 2 RNF13_chr3_149527606_149527898_F:RNF13_chr3_149533104_149533741_F 2 . -1 -1 . -1 . . . . . . . chr3 149530238 149530537 10000 2 RNF13_chr3_150457243_150458902_S 1 . -1 -1 . -1 . . . . . . . chr3 149531101 149531258 11000 1 RNF13_chr3_149533104_149533741_F:RNF13_chr3_150457243_150458902_S 2 . -1 -1 . -1 . . . . . . . chr3 149531762 149531951 11000 1 RNF13_chr3_149533104_149533741_F 1 . -1 -1 . -1 . . . . . . . chr3 150125957 150126067 10101 1 TSC22D2_chr3_150457243_150458902_S 1 . -1 -1 . -1 . . . . . . . chr3 150320859 150321074 11100 2 SERP1_chr3_150457243_150458902_S 1 . -1 -1 . -1 . . . . . . . chr3 150455052 150455478 11000 4 COMMD2_chr3_149469981_149470516_S 1 . -1 -1 . -1 . . . . . . . chr3 150455771 150456046 10000 3 COMMD2_chr3_149469981_149470516_S 1 . -1 -1 . -1 . . . . . . . chr3 150457348 150457526 11000 1 COMMD2_chr3_149469981_149470516_S:PFN2_chr3_149687029_149687285_S:RNF13_chr3_149530238_149531421_S:SERP1_chr3_150320693_150321948_S:SIAH2_chr3_150479603_150479973_S:SIAH2_chr3_150480604_150482015_S:TSC22D2_chr3_150125889_150128322_S 7 . -1 -1 . -1 . . . . . . . chr3 150457765 150457979 11000 1 COMMD2_chr3_149469981_149470516_S:PFN2_chr3_149687029_149687285_S:RNF13_chr3_149530238_149531421_S:SERP1_chr3_150320693_150321948_S:SIAH2_chr3_150479603_150479973_S:SIAH2_chr3_150480604_150482015_S:TSC22D2_chr3_150125889_150128322_S 7 . -1 -1 . -1 . . . . . . . chr3 150458553 150458902 10000 4 COMMD2_chr3_149469981_149470516_S:PFN2_chr3_149687029_149687285_S:RNF13_chr3_149530238_149531421_S:SERP1_chr3_150320693_150321948_S:SIAH2_chr3_150479603_150479973_S:SIAH2_chr3_150480604_150482015_S:TSC22D2_chr3_150125889_150128322_S 7 . -1 -1 . -1 . . . . . . . chr3 150477967 150478086 11000 1 SIAH2_chr3_150478289_150481763_F 1 . -1 -1 . -1 . . . . . . . chr3 150480862 150481031 11101 2 SIAH2_chr3_150457243_150458902_S:SIAH2_chr3_150478267_150478712_F 2 . -1 -1 . -1 . . . . . . . chr3 150481275 150481453 11101 1 SIAH2_chr3_150457243_150458902_S:SIAH2_chr3_150478267_150478712_F 2 . -1 -1 . -1 . . . . . . . chr3 150481694 150481763 11000 1 SIAH2_chr3_150478267_150478712_F 1 . -1 -1 . -1 . . . . . . . chr3 150481694 150481949 11000 1 SIAH2_chr3_150457243_150458902_S 1 . -1 -1 . -1 . . . . . . . chr3 152879085 152879275 11100 1 RAP2B_chr3_152878171_152878732_F 1 . -1 -1 . -1 . . . . . . . chr3 152879878 152880047 11100 2 RAP2B_chr3_152878171_152878732_F 1 . -1 -1 . -1 . . . . . . . chr3 156252956 156253245 11000 2 ENSG00000241544_chr3_156799771_156799863_S:TIPARP_chr3_156391771_156393145_S 2 . -1 -1 . -1 . . . . . . . chr3 156391896 156392816 11100 3 TIPARP_chr3_156252853_156253400_S:TIPARP_chr3_156837894_156838823_S:TIPARP_chr3_156853519_156853600_S 3 . -1 -1 . -1 . . . . . . . chr3 156838370 156838671 11000 3 CCNL1_chr3_156876995_156878812_S:TIPARP_chr3_156391771_156393145_S 2 . -1 -1 . -1 . . . . . . . chr3 156876995 156877271 11101 3 CCNL1_chr3_156837894_156838823_S:CCNL1_chr3_156853519_156853600_S 2 . -1 -1 . -1 . . . . . . . chr3 156877952 156878094 11101 1 CCNL1_chr3_156837894_156838823_S:CCNL1_chr3_156853519_156853600_S 2 . -1 -1 . -1 . . . . . . . chr3 156878469 156878722 11101 2 CCNL1_chr3_156837894_156838823_S:CCNL1_chr3_156853519_156853600_S 2 . -1 -1 . -1 . . . . . . . chr3 165555153 165555302 11100 2 BCHE_chr3_165557542_165557875_F 1 . -1 -1 . -1 . . . . . . . chr3 165556748 165557011 10000 1 BCHE_chr3_165557542_165557875_F 1 . -1 -1 . -1 . . . . . . . chr3 169755910 169756076 11000 1 GPR160_chr3_169751384_169751667_F 1 . -1 -1 . -1 . . . . . . . chr3 170074404 170074611 11000 1 SKIL_chr3_170073951_170075973_F:SKIL_chr3_170073951_170077911_F 2 . -1 -1 . -1 . . . . . . . chr3 170074404 170075507 11000 1 SKIL_chr3_170073991_170074311_F:SKIL_chr3_170073991_170074311_F 2 . -1 -1 . -1 . . . . . . . chr3 170076044 170076396 10000 2 SKIL_chr3_170073991_170074311_F 1 . -1 -1 . -1 . . . . . . . chr3 171178203 171178470 11000 1 TNIK_chr3_171175851_171176236_F:TNIK_chr3_171176900_171177208_F 2 . -1 -1 . -1 . . . . . . . chr3 171529065 171529546 11101 3 PLD1_chr3_171529898_171530084_F:PLD1_chr3_171531632_171532210_F 2 . -1 -1 . -1 . . . . . . . chr3 171558337 171558552 10000 1 NCEH1_chr3_172428484_172429195_S 1 . -1 -1 . -1 . . . . . . . chr3 171559051 171559328 11100 4 NCEH1_chr3_172428484_172429195_S 1 . -1 -1 . -1 . . . . . . . chr3 171858258 171858590 11001 4 NCEH1_chr3_172428484_172429195_S 1 . -1 -1 . -1 . . . . . . . chr3 172428484 172428677 10000 1 NCEH1_chr3_171558292_171560167_S:NCEH1_chr3_171857600_171859400_S 2 . -1 -1 . -1 . . . . . . . chr3 172428914 172429089 10000 1 NCEH1_chr3_171558292_171560167_S:NCEH1_chr3_171857600_171859400_S 2 . -1 -1 . -1 . . . . . . . chr3 178789555 178789715 11000 1 ZMAT3_chr3_178787910_178788066_F 1 . -1 -1 . -1 . . . . . . . chr3 183602593 183602755 11101 2 PARL_chr3_183186800_183187235_S:PARL_chr3_183187408_183187555_S 2 . -1 -1 . -1 . . . . . . . chr3 183979400 183979512 10100 1 CAMK2N2_chr3_183980250_183980567_F 1 . -1 -1 . -1 . . . . . . . chr3 183980416 183980609 11100 1 CAMK2N2_chr3_183980250_183980567_F 1 . -1 -1 . -1 . . . . . . . chr3 183980416 183980631 11100 1 CAMK2N2_chr3_183978750_183980609_F 1 . -1 -1 . -1 . . . . . . . chr3 185514440 185514686 10000 2 AHSG_chr3_186332418_186332937_S 1 . -1 -1 . -1 . . . . . . . chr3 186332730 186332851 10000 1 AHSG_chr3_185513919_185514318_S:AHSG_chr3_185514440_185515213_S 2 . -1 -1 . -1 . . . . . . . chr3 187004337 187004672 11101 4 BCL6_chr3_187456744_187456957_S 1 . -1 -1 . -1 . . . . . . . chr3 187009461 187010301 11101 2 MASP1_chr3_187011848_187012020_F 1 . -1 -1 . -1 . . . . . . . chr3 187453784 187453891 11101 2 BCL6_chr3_187457681_187458370_F 1 . -1 -1 . -1 . . . . . . . chr3 187454283 187454448 11100 1 BCL6_chr3_187457681_187458370_F 1 . -1 -1 . -1 . . . . . . . chr3 187455670 187455895 11100 1 BCL6_chr3_187457681_187458370_F 1 . -1 -1 . -1 . . . . . . . chr3 187456513 187456910 11101 2 BCL6_chr3_187457681_187458370_F 1 . -1 -1 . -1 . . . . . . . chr3 187456744 187456910 11101 2 BCL6_chr3_187004225_187004672_S:BCL6_chr3_187715324_187716512_S:BCL6_chr3_187754087_187754400_S:BCL6_chr3_187923829_187923958_S:BCL6_chr3_188014403_188015311_S 5 . -1 -1 . -1 . . . . . . . chr3 187457225 187457625 11101 1 BCL6_chr3_187457681_187458370_F 1 . -1 -1 . -1 . . . . . . . chr3 187457381 187457625 11101 1 BCL6_chr3_187453784_187458226_F 1 . -1 -1 . -1 . . . . . . . chr3 187459388 187459565 11101 3 BCL6_chr3_187459266_187464013_F:BCL6_chr3_187459288_187459644_F 2 . -1 -1 . -1 . . . . . . . chr3 187459989 187460127 11101 1 BCL6_chr3_187459288_187459644_F:BCL6_chr3_187715324_187716512_S:BCL6_chr3_187754087_187754400_S:BCL6_chr3_187923829_187923958_S:BCL6_chr3_188014403_188015311_S 5 . -1 -1 . -1 . . . . . . . chr3 187461288 187461463 10000 1 BCL6_chr3_187459288_187459644_F 1 . -1 -1 . -1 . . . . . . . chr3 187463089 187463656 11101 2 BCL6_chr3_187459288_187459644_F 1 . -1 -1 . -1 . . . . . . . chr3 187463907 187464013 11001 1 BCL6_chr3_187459288_187459644_F 1 . -1 -1 . -1 . . . . . . . chr3 187715773 187716062 11101 3 BCL6_chr3_187456744_187456957_S:BCL6_chr3_187459973_187460165_S:ENSG00000225058_chr3_187720402_187722123_S 3 . -1 -1 . -1 . . . . . . . chr3 187720524 187720785 11000 2 ENSG00000225058_chr3_187715324_187716512_S:ENSG00000225058_chr3_187754087_187754400_S 2 . -1 -1 . -1 . . . . . . . chr3 187721046 187721393 11000 2 ENSG00000225058_chr3_187715324_187716512_S:ENSG00000225058_chr3_187754087_187754400_S 2 . -1 -1 . -1 . . . . . . . chr3 187754230 187754400 11000 4 BCL6_chr3_187456744_187456957_S:BCL6_chr3_187459973_187460165_S:ENSG00000225058_chr3_187720402_187722123_S 3 . -1 -1 . -1 . . . . . . . chr3 188014594 188015128 11101 4 BCL6_chr3_187456744_187456957_S:BCL6_chr3_187459973_187460165_S 2 . -1 -1 . -1 . . . . . . . chr3 193852620 193853001 10101 2 HES1_chr3_193851636_193853009_F:HES1_chr3_193852122_193854431_F 2 . -1 -1 . -1 . . . . . . . chr3 193853628 193853963 10101 2 HES1_chr3_193851636_193853009_F:HES1_chr3_193857372_193857551_F 2 . -1 -1 . -1 . . . . . . . chr3 193855418 193855709 10000 3 HES1_chr3_193857372_193857551_F 1 . -1 -1 . -1 . . . . . . . chr3 193857511 193857662 10000 1 HES1_chr3_193857372_193857551_F 1 . -1 -1 . -1 . . . . . . . chr3 193857511 193857674 10000 1 HES1_chr3_193853430_193857662_F 1 . -1 -1 . -1 . . . . . . . chr3 195633176 195633408 10000 3 TNK2_chr3_195632847_195636380_F:TNK2_chr3_195632869_195633225_F 2 . -1 -1 . -1 . . . . . . . chr3 195633402 195633408 10000 3 TNK2_chr3_195633803_195636380_F 1 . -1 -1 . -1 . . . . . . . chr3 195634755 195634965 10101 2 TNK2_chr3_195632869_195633225_F:TNK2_chr3_195633702_195634304_F 2 . -1 -1 . -1 . . . . . . . chr3 197477500 197477677 10101 1 FYTTD1_chr3_197478210_197478491_F:FYTTD1_chr3_197478210_197478491_F 2 . -1 -1 . -1 . . . . . . . chr3 197477950 197478534 10000 2 FYTTD1_chr3_197475923_197478551_F:FYTTD1_chr3_197476123_197478551_F:FYTTD1_chr3_197478210_197478491_F:FYTTD1_chr3_197478210_197478491_F 4 . -1 -1 . -1 . . . . . . . chr4 925219 925380 10010 1 GAK_chr4_924714_925388_F:GAK_chr4_924851_926674_F 2 . -1 -1 . -1 . . . . . . . chr4 926112 926325 10101 2 GAK_chr4_924714_925388_F 1 . -1 -1 . -1 . . . . . . . chr4 2792321 2792601 11000 1 SH3BP2_chr4_2792429_2795250_F 1 . -1 -1 . -1 . . . . . . . chr4 2792429 2792601 11000 1 SH3BP2_chr4_2792408_2792850_F 1 . -1 -1 . -1 . . . . . . . chr4 2793282 2793950 11000 1 SH3BP2_chr4_2792408_2792850_F 1 . -1 -1 . -1 . . . . . . . chr4 2794534 2794708 10111 1 SH3BP2_chr4_2792408_2792850_F 1 . -1 -1 . -1 . . . . . . . chr4 4543693 4544219 11111 1 STX18_chr4_4542716_4543043_F 1 . -1 -1 . -1 . . . . . . . chr4 6690936 6691107 10000 2 S100P_chr4_6919600_6919983_S 1 . -1 -1 . -1 . . . . . . . chr4 6784252 6784443 10101 2 KIAA0232_chr4_6785099_6785509_F:KIAA0232_chr4_6919600_6919983_S 2 . -1 -1 . -1 . . . . . . . chr4 6912320 6912559 10000 1 TBC1D14_chr4_6910670_6913041_F:TBC1D14_chr4_6910994_6913041_F:TBC1D14_chr4_6912537_6913143_F:TBC1D14_chr4_6912537_6913143_F:TBC1D14_chr4_6919600_6919983_S 5 . -1 -1 . -1 . . . . . . . chr4 6919600 6919704 11010 2 ENSG00000170846_chr4_6675116_6676395_S:ENSG00000170846_chr4_6676487_6676654_S:KIAA0232_chr4_6783987_6785668_S:S100P_chr4_6690625_6692681_S:TBC1D14_chr4_6912106_6912667_S 5 . -1 -1 . -1 . . . . . . . chr4 6988595 6989006 11101 3 TBC1D14_chr4_6989470_6989868_F 1 . -1 -1 . -1 . . . . . . . chr4 10023034 10023276 11111 2 SLC2A9_chr4_10025962_10026238_F 1 . -1 -1 . -1 . . . . . . . chr4 10118429 10118539 10000 1 WDR1_chr4_10116801_10117310_F 1 . -1 -1 . -1 . . . . . . . chr4 15683253 15683409 11000 1 FAM200B_chr4_15684115_15684561_F 1 . -1 -1 . -1 . . . . . . . chr4 15684127 15684249 10000 1 FAM200B_chr4_15682851_15684539_F:FAM200B_chr4_15684115_15684561_F 2 . -1 -1 . -1 . . . . . . . chr4 15781087 15781278 11000 2 CD38_chr4_15781600_15782008_F:CD38_chr4_15783348_15783685_F:CD38_chr4_15783833_15784027_F 3 . -1 -1 . -1 . . . . . . . chr4 17578499 17578776 10100 3 LAP3_chr4_17581888_17582305_F 1 . -1 -1 . -1 . . . . . . . chr4 17579012 17579169 10100 1 LAP3_chr4_17581888_17582305_F 1 . -1 -1 . -1 . . . . . . . chr4 17580879 17581031 10000 1 LAP3_chr4_17581888_17582305_F 1 . -1 -1 . -1 . . . . . . . chr4 17581993 17582200 10100 2 LAP3_chr4_17578426_17582297_F:LAP3_chr4_17581888_17582305_F 2 . -1 -1 . -1 . . . . . . . chr4 24914082 24914232 11111 1 CCDC149_chr4_24913601_24915100_F 1 . -1 -1 . -1 . . . . . . . chr4 24914082 24914278 11111 1 CCDC149_chr4_24913671_24913932_F 1 . -1 -1 . -1 . . . . . . . chr4 37893302 37893473 10100 2 TBC1D1_chr4_37894100_37894434_F 1 . -1 -1 . -1 . . . . . . . chr4 38665176 38665338 11100 3 KLF3_chr4_38664467_38664838_F:KLF3_chr4_38664906_38666290_F:KLF3_chr4_38665008_38665204_F 3 . -1 -1 . -1 . . . . . . . chr4 38665289 38665338 11100 3 KLF3_chr4_38668617_38669179_F 1 . -1 -1 . -1 . . . . . . . chr4 38665683 38665865 11110 2 KLF3_chr4_38664467_38664838_F:KLF3_chr4_38665008_38665204_F:KLF3_chr4_38668617_38669179_F 3 . -1 -1 . -1 . . . . . . . chr4 38668902 38669099 11110 4 KLF3_chr4_38668617_38669179_F 1 . -1 -1 . -1 . . . . . . . chr4 38668902 38669178 11110 4 KLF3_chr4_38665289_38669099_F 1 . -1 -1 . -1 . . . . . . . chr4 38675200 38675531 11111 4 KLB_chr4_39408307_39408749_S:LIAS_chr4_39459887_39461564_S 2 . -1 -1 . -1 . . . . . . . chr4 38859609 38859649 11000 1 TLR6_chr4_38859134_38859762_F 1 . -1 -1 . -1 . . . . . . . chr4 38859609 38859735 11000 1 TLR6_chr4_38857937_38859649_F 1 . -1 -1 . -1 . . . . . . . chr4 38869326 38869445 11101 1 FAM114A1_chr4_38870386_38870769_F 1 . -1 -1 . -1 . . . . . . . chr4 38869908 38870045 11100 1 FAM114A1_chr4_38870386_38870769_F 1 . -1 -1 . -1 . . . . . . . chr4 38874263 38874597 11101 3 LIAS_chr4_39459887_39461564_S 1 . -1 -1 . -1 . . . . . . . chr4 39408410 39408694 11010 3 KLB_chr4_38675200_38675600_S 1 . -1 -1 . -1 . . . . . . . chr4 39460458 39460712 11111 3 LIAS_chr4_38675200_38675600_S:LIAS_chr4_38874164_38875132_S 2 . -1 -1 . -1 . . . . . . . chr4 39638499 39638919 11000 2 C4orf34_chr4_39638348_39640981_F 1 . -1 -1 . -1 . . . . . . . chr4 39638499 39638951 11000 2 C4orf34_chr4_39638477_39638619_F 1 . -1 -1 . -1 . . . . . . . chr4 39640466 39640981 11010 4 C4orf34_chr4_39638477_39638619_F 1 . -1 -1 . -1 . . . . . . . chr4 40057417 40057710 11111 1 N4BP2_chr4_40057101_40059024_F:N4BP2_chr4_40057110_40057493_F 2 . -1 -1 . -1 . . . . . . . chr4 41214764 41214909 11000 2 APBB2_chr4_41178913_41179293_S 1 . -1 -1 . -1 . . . . . . . chr4 41936157 41936741 11010 2 TMEM33_chr4_41936117_41937637_F 1 . -1 -1 . -1 . . . . . . . chr4 41936157 41936765 11010 2 TMEM33_chr4_41936193_41936441_F 1 . -1 -1 . -1 . . . . . . . chr4 41937066 41937271 11100 2 TMEM33_chr4_41936193_41936441_F 1 . -1 -1 . -1 . . . . . . . chr4 44728558 44728705 11111 1 GNPDA2_chr4_44727575_44727855_F 1 . -1 -1 . -1 . . . . . . . chr4 54930613 54930880 10000 2 CHIC2_chr4_54929171_54929915_F 1 . -1 -1 . -1 . . . . . . . chr4 55097399 55097610 11010 1 PDGFRA_chr4_55094763_55097699_F:PDGFRA_chr4_55097338_55097659_F 2 . -1 -1 . -1 . . . . . . . chr4 69215681 69216075 11111 3 YTHDC1_chr4_69817400_69818041_S 1 . -1 -1 . -1 . . . . . . . chr4 69813870 69814328 00000 3 UGT2A3_chr4_69813787_69818009_F:UGT2A3_chr4_69813796_69814179_F 2 . -1 -1 . -1 . . . . . . . chr4 69814805 69814943 00000 1 UGT2A3_chr4_69813796_69814179_F 1 . -1 -1 . -1 . . . . . . . chr4 69815810 69816014 00000 1 UGT2A3_chr4_69813796_69814179_F 1 . -1 -1 . -1 . . . . . . . chr4 69817217 69817400 00000 4 UGT2A3_chr4_69817400_69818041_S 1 . -1 -1 . -1 . . . . . . . chr4 69817217 69817560 00000 4 UGT2A3_chr4_69813796_69814179_F 1 . -1 -1 . -1 . . . . . . . chr4 69817400 69817560 00000 4 UGT2A3_chr4_69817192_69817400_S:YTHDC1_chr4_69215139_69216075_S 2 . -1 -1 . -1 . . . . . . . chr4 70624886 70625199 10000 1 SULT1B1_chr4_70625051_70626930_F 1 . -1 -1 . -1 . . . . . . . chr4 70625051 70625199 10000 1 SULT1B1_chr4_70625186_70625316_F 1 . -1 -1 . -1 . . . . . . . chr4 70626195 70626522 10000 3 SULT1B1_chr4_70625186_70625316_F 1 . -1 -1 . -1 . . . . . . . chr4 71859035 71859231 11101 1 DCK_chr4_71861834_71861975_F 1 . -1 -1 . -1 . . . . . . . chr4 74961652 74961784 10000 1 CXCL2_chr4_74961836_74965497_F 1 . -1 -1 . -1 . . . . . . . chr4 74962066 74962421 10000 1 CXCL2_chr4_74961836_74965497_F 1 . -1 -1 . -1 . . . . . . . chr4 74962066 74962430 10000 1 CXCL2_chr4_74961952_74962121_F 1 . -1 -1 . -1 . . . . . . . chr4 74962978 74963115 10000 1 CXCL2_chr4_74961952_74962121_F 1 . -1 -1 . -1 . . . . . . . chr4 74963438 74964035 10000 2 CXCL2_chr4_74961952_74962121_F 1 . -1 -1 . -1 . . . . . . . chr4 74964811 74965231 10000 3 CXCL2_chr4_74961952_74962121_F 1 . -1 -1 . -1 . . . . . . . chr4 77869926 77870150 11100 2 SEPT11_chr4_77869424_77871395_F 1 . -1 -1 . -1 . . . . . . . chr4 77869926 77870176 11100 2 SEPT11_chr4_77869398_77869850_F 1 . -1 -1 . -1 . . . . . . . chr4 77870828 77870979 10100 1 SEPT11_chr4_77869398_77869850_F 1 . -1 -1 . -1 . . . . . . . chr4 78740220 78740330 10000 1 CNOT6L_chr4_78742995_78743215_F 1 . -1 -1 . -1 . . . . . . . chr4 78741287 78741453 11000 1 CNOT6L_chr4_78742995_78743215_F 1 . -1 -1 . -1 . . . . . . . chr4 78742097 78742602 11000 2 CNOT6L_chr4_78742995_78743215_F 1 . -1 -1 . -1 . . . . . . . chr4 78979120 78979224 11000 1 FRAS1_chr4_78977894_78978171_F 1 . -1 -1 . -1 . . . . . . . chr4 80992184 80992363 11000 2 ANTXR2_chr4_80991308_80991698_F 1 . -1 -1 . -1 . . . . . . . chr4 80994113 80994426 11000 1 ANTXR2_chr4_80991308_80991698_F:ANTXR2_chr4_80997440_80997711_F 2 . -1 -1 . -1 . . . . . . . chr4 81102613 81102803 10000 1 PRDM8_chr4_81101972_81102294_F 1 . -1 -1 . -1 . . . . . . . chr4 82392948 82393102 11101 1 RASGEF1B_chr4_82394038_82394320_F 1 . -1 -1 . -1 . . . . . . . chr4 82393509 82393672 11001 1 RASGEF1B_chr4_82394038_82394320_F 1 . -1 -1 . -1 . . . . . . . chr4 88310125 88310329 10000 1 HSD17B11_chr4_88310034_88312955_F:HSD17B11_chr4_88310144_88310324_F 2 . -1 -1 . -1 . . . . . . . chr4 88312271 88312685 11101 3 HSD17B11_chr4_88310144_88310324_F 1 . -1 -1 . -1 . . . . . . . chr4 88446819 88446954 11000 1 SPARCL1_chr4_88446928_88451155_F 1 . -1 -1 . -1 . . . . . . . chr4 88446928 88446954 11000 1 SPARCL1_chr4_88446974_88447282_F 1 . -1 -1 . -1 . . . . . . . chr4 88449136 88449415 11000 2 SPARCL1_chr4_88446974_88447282_F 1 . -1 -1 . -1 . . . . . . . chr4 89300458 89300629 11000 1 HERC6_chr4_89302401_89302730_F 1 . -1 -1 . -1 . . . . . . . chr4 89377585 89377709 10000 1 HERC5_chr4_89377199_89378768_F:HERC5_chr4_89377235_89377564_F 2 . -1 -1 . -1 . . . . . . . chr4 89377968 89378205 10000 3 HERC5_chr4_89377235_89377564_F 1 . -1 -1 . -1 . . . . . . . chr4 90227491 90227609 10100 1 GPRIN3_chr4_90224802_90225147_F:GPRIN3_chr4_90226723_90227111_F 2 . -1 -1 . -1 . . . . . . . chr4 95262687 95262908 11000 1 HPGDS_chr4_95259956_95260212_F 1 . -1 -1 . -1 . . . . . . . chr4 95372537 95372664 10101 1 PDLIM5_chr4_95373822_95374139_F 1 . -1 -1 . -1 . . . . . . . chr4 95372915 95373147 11101 1 PDLIM5_chr4_95373822_95374139_F 1 . -1 -1 . -1 . . . . . . . chr4 95373855 95374030 11101 1 PDLIM5_chr4_95372537_95374181_F:PDLIM5_chr4_95373822_95374139_F 2 . -1 -1 . -1 . . . . . . . chr4 99850088 99850451 11000 3 EIF4E_chr4_99853675_99854028_F 1 . -1 -1 . -1 . . . . . . . chr4 100065405 100065616 11001 4 DNAJB14_chr4_100870237_100872114_S 1 chr4 100065509 100065510 CR994658 - 3 FP rs1800759 ADH4 Increased transcription CTGTGAATTACAGCAACAAAGGAGAAAAGG[C/A]AGTGATTGGAGAATTAAGCAACATGAATGG 10208639 chr4 100272728 100272927 10000 2 ADH1C_chr4_100272506_100274417_F:ADH1C_chr4_100272514_100272898_F 2 . -1 -1 . -1 . . . . . . . chr4 100273772 100273971 10000 2 ADH1C_chr4_100272514_100272898_F 1 . -1 -1 . -1 . . . . . . . chr4 100870237 100870477 11000 1 DNAJB14_chr4_100065400_100065616_S 1 . -1 -1 . -1 . . . . . . . chr4 100871666 100871776 11000 1 DNAJB14_chr4_100065400_100065616_S 1 . -1 -1 . -1 . . . . . . . chr4 103681568 103681671 10100 1 MANBA_chr4_103679962_103680312_F 1 . -1 -1 . -1 . . . . . . . chr4 103682542 103682651 10100 1 MANBA_chr4_103679962_103680312_F 1 . -1 -1 . -1 . . . . . . . chr4 103748986 103749550 11000 3 UBE2D3_chr4_103750426_103750532_F:UBE2D3_chr4_103750426_103750532_F:UBE2D3_chr4_103750426_103750532_F 3 . -1 -1 . -1 . . . . . . . chr4 106067941 106068068 11101 1 TET2_chr4_106071010_106071297_F:TET2_chr4_106071010_106071297_F 2 . -1 -1 . -1 . . . . . . . chr4 106070973 106071214 11000 2 TET2_chr4_106066531_106071354_F:TET2_chr4_106067341_106071354_F:TET2_chr4_106071010_106071297_F:TET2_chr4_106071010_106071297_F 4 . -1 -1 . -1 . . . . . . . chr4 113067415 113067585 10000 1 C4orf32_chr4_113066052_113067783_F:C4orf32_chr4_113067380_113067784_F 2 . -1 -1 . -1 . . . . . . . chr4 113206934 113207154 11000 3 TIFA_chr4_113208724_113209105_F:TIFA_chr4_113209682_113209927_F 2 . -1 -1 . -1 . . . . . . . chr4 113207571 113207757 11000 2 TIFA_chr4_113208724_113209105_F:TIFA_chr4_113209682_113209927_F 2 . -1 -1 . -1 . . . . . . . chr4 123749121 123749331 10000 1 FGF2_chr4_123751494_123751575_F 1 . -1 -1 . -1 . . . . . . . chr4 130014376 130014923 11111 3 C4orf33_chr4_130012970_130013118_F:SCLT1_chr4_130012970_130013118_F 2 . -1 -1 . -1 . . . . . . . chr4 140003851 140004261 11000 3 ELF2_chr4_140003893_140006147_F 1 . -1 -1 . -1 . . . . . . . chr4 140003893 140004261 11000 3 ELF2_chr4_140003738_140004448_F 1 . -1 -1 . -1 . . . . . . . chr4 141072212 141072457 10110 1 MAML3_chr4_141071687_141072625_F:MAML3_chr4_141071956_141075733_F 2 . -1 -1 . -1 . . . . . . . chr4 141075250 141075485 10100 2 MAML3_chr4_141071687_141072625_F:MAML3_chr4_141077775_141077952_F 2 . -1 -1 . -1 . . . . . . . chr4 142557680 142557790 10000 1 IL15_chr4_142559455_142559780_F 1 . -1 -1 . -1 . . . . . . . chr4 146100418 146100902 11010 2 OTUD4_chr4_146098272_146098411_F 1 . -1 -1 . -1 . . . . . . . chr4 149363579 149363824 11111 2 NR3C2_chr4_149364278_149364693_F 1 . -1 -1 . -1 . . . . . . . chr4 153599471 153599593 10000 1 TMEM154_chr4_153599369_153601817_F:TMEM154_chr4_153599392_153599746_F 2 . -1 -1 . -1 . . . . . . . chr4 153601172 153601308 11111 1 TMEM154_chr4_153599392_153599746_F 1 . -1 -1 . -1 . . . . . . . chr4 154266383 154266612 11000 3 MND1_chr4_154269495_154269528_F 1 . -1 -1 . -1 . . . . . . . chr4 155480773 155480868 11111 1 FGA_chr4_155511659_155512194_S 1 . -1 -1 . -1 . . . . . . . chr4 155481260 155481608 11111 4 FGA_chr4_155511659_155512194_S 1 . -1 -1 . -1 . . . . . . . chr4 155481883 155482320 11111 4 FGA_chr4_155511659_155512194_S 1 . -1 -1 . -1 . . . . . . . chr4 155511917 155512194 11111 4 FGA_chr4_155480773_155482501_S 1 . -1 -1 . -1 . . . . . . . chr4 155533744 155534190 11000 4 FGG_chr4_155536532_155536671_F 1 . -1 -1 . -1 . . . . . . . chr4 155534819 155535021 11000 1 FGG_chr4_155536532_155536671_F 1 . -1 -1 . -1 . . . . . . . chr4 155535993 155536145 11000 1 FGG_chr4_155536532_155536671_F 1 . -1 -1 . -1 . . . . . . . chr4 155536658 155536802 11000 1 FGG_chr4_155536532_155536671_F 1 . -1 -1 . -1 . . . . . . . chr4 155536658 155536821 11000 1 FGG_chr4_155533401_155536802_F 1 . -1 -1 . -1 . . . . . . . chr4 157891398 157891561 10000 1 PDGFC_chr4_157889828_157890031_F 1 . -1 -1 . -1 . . . . . . . chr4 157892059 157893046 11101 4 PDGFC_chr4_157889828_157890031_F 1 chr4 157893041 157893042 CR092999 - 3 DFP rs28999109 PDGFC Cleft lip with or without cleft palate: association GCGCGCTCCGCCCGGGCTCGGCCCACGGCC[C/T]CCACCTCCTGTCTGCCGCCCGGCGGGGGGA 19092777 chr4 159131814 159131901 10000 1 TMEM144_chr4_159130594_159130739_F 1 . -1 -1 . -1 . . . . . . . chr4 159644038 159644645 11111 2 PPID_chr4_159643443_159643599_F 1 . -1 -1 . -1 . . . . . . . chr4 160188543 160188760 10000 1 RAPGEF2_chr4_160191202_160191310_F 1 . -1 -1 . -1 . . . . . . . chr4 160189788 160189978 10000 1 RAPGEF2_chr4_160191202_160191310_F 1 . -1 -1 . -1 . . . . . . . chr4 160191045 160191165 10000 1 RAPGEF2_chr4_160188497_160191457_F:RAPGEF2_chr4_160191202_160191310_F 2 . -1 -1 . -1 . . . . . . . chr4 164087978 164088179 11100 3 NAF1_chr4_164085826_164086168_F 1 . -1 -1 . -1 . . . . . . . chr4 170191748 170191757 11101 1 SH3RF1_chr4_170193381_170193745_F 1 . -1 -1 . -1 . . . . . . . chr4 170192080 170192337 11101 1 SH3RF1_chr4_170193381_170193745_F 1 . -1 -1 . -1 . . . . . . . chr4 170541281 170541837 11101 3 CLCN3_chr4_170543360_170543629_F 1 . -1 -1 . -1 . . . . . . . chr4 175441864 175442035 10000 2 HPGD_chr4_175440867_175440935_F 1 . -1 -1 . -1 . . . . . . . chr4 175443711 175444292 11100 1 HPGD_chr4_175440867_175440935_F 1 . -1 -1 . -1 . . . . . . . chr4 185393261 185393369 11010 2 IRF2_chr4_185393528_185396226_F 1 . -1 -1 . -1 . . . . . . . chr4 185394028 185394195 10010 2 IRF2_chr4_185393528_185396226_F 1 . -1 -1 . -1 . . . . . . . chr4 185394028 185394389 10010 2 IRF2_chr4_185393561_185393895_F 1 . -1 -1 . -1 . . . . . . . chr4 185395739 185395999 11010 4 IRF2_chr4_185393561_185393895_F 1 . -1 -1 . -1 . . . . . . . chr5 191154 191201 10000 2 LRRC14B_chr5_190596_192126_F 1 . -1 -1 . -1 . . . . . . . chr5 191154 191329 10000 2 LRRC14B_chr5_190691_190901_F 1 . -1 -1 . -1 . . . . . . . chr5 693645 693780 10000 1 TPPP_chr5_692381_692722_F 1 . -1 -1 . -1 . . . . . . . chr5 1108616 1108726 11101 1 SLC12A7_chr5_1108932_1112672_F 1 . -1 -1 . -1 . . . . . . . chr5 5422306 5422679 11000 2 KIAA0947_chr5_5423578_5423857_F 1 . -1 -1 . -1 . . . . . . . chr5 9544628 9544742 11000 1 SEMA5A_chr5_9544457_9546733_F:SEMA5A_chr5_9544480_9544834_F 2 . -1 -1 . -1 . . . . . . . chr5 14664484 14664893 10101 1 FAM105B_chr5_14666216_14666664_F:FAM105B_chr5_14668408_14668752_F 2 . -1 -1 . -1 . . . . . . . chr5 14665399 14665711 10101 2 FAM105B_chr5_14666216_14666664_F:FAM105B_chr5_14668408_14668752_F 2 . -1 -1 . -1 . . . . . . . chr5 14668314 14668709 10101 2 FAM105B_chr5_14664282_14668781_F:FAM105B_chr5_14668408_14668752_F 2 . -1 -1 . -1 . . . . . . . chr5 32233360 32234000 11000 4 SUB1_chr5_32585434_32586465_S 1 . -1 -1 . -1 . . . . . . . chr5 32710242 32710317 10000 1 NPR3_chr5_32714238_32714628_F 1 . -1 -1 . -1 . . . . . . . chr5 32710613 32710912 10110 1 NPR3_chr5_32714238_32714628_F 1 . -1 -1 . -1 . . . . . . . chr5 34007688 34007917 11000 3 AMACR_chr5_34006520_34007060_F 1 . -1 -1 . -1 . . . . . . . chr5 34008127 34008463 11000 3 AMACR_chr5_34006520_34007060_F 1 . -1 -1 . -1 . . . . . . . chr5 34656301 34656527 11101 1 RAI14_chr5_34658306_34658537_F:RAI14_chr5_34658306_34658537_F 2 . -1 -1 . -1 . . . . . . . chr5 36151975 36152207 11110 1 LMBRD2_chr5_36151218_36151404_F:SKP2_chr5_36151218_36151404_F 2 . -1 -1 . -1 . . . . . . . chr5 36301186 36301411 10010 1 RANBP3L_chr5_36300848_36302511_F:RANBP3L_chr5_36300929_36301168_F 2 . -1 -1 . -1 . . . . . . . chr5 36302231 36302453 10001 2 RANBP3L_chr5_36300929_36301168_F 1 . -1 -1 . -1 . . . . . . . chr5 38845838 38846138 11011 2 OSMR_chr5_38846956_38846992_F:OSMR_chr5_38846956_38846992_F 2 . -1 -1 . -1 . . . . . . . chr5 39073422 39073656 11111 1 RICTOR_chr5_39072904_39073873_F:RICTOR_chr5_39073188_39075001_F 2 . -1 -1 . -1 . . . . . . . chr5 39074544 39074697 11110 1 RICTOR_chr5_39072904_39073873_F:RICTOR_chr5_39077105_39077361_F 2 . -1 -1 . -1 . . . . . . . chr5 39075562 39075744 11000 1 RICTOR_chr5_39077105_39077361_F 1 . -1 -1 . -1 . . . . . . . chr5 39218027 39218141 10010 1 FYB_chr5_39215442_39215743_F 1 . -1 -1 . -1 . . . . . . . chr5 40679952 40680066 10000 1 PTGER4_chr5_40675786_40676209_F:PTGER4_chr5_40682862_40683125_F 2 . -1 -1 . -1 . . . . . . . chr5 55289652 55289792 10010 1 IL6ST_chr5_55288370_55289209_F:IL6ST_chr5_55289597_55291321_F:IL6ST_chr5_55289605_55289989_F 3 . -1 -1 . -1 . . . . . . . chr5 55290962 55291210 11010 3 IL6ST_chr5_55288370_55289209_F:IL6ST_chr5_55289605_55289989_F 2 . -1 -1 . -1 . . . . . . . chr5 56469675 56469897 11111 1 GPBP1_chr5_56468272_56468727_F:GPBP1_chr5_56468272_56468727_F 2 . -1 -1 . -1 . . . . . . . chr5 60626833 60626838 11000 1 ZSWIM6_chr5_60626229_60628600_F 1 . -1 -1 . -1 . . . . . . . chr5 60626833 60626969 11000 1 ZSWIM6_chr5_60624078_60624207_F:ZSWIM6_chr5_60625710_60626179_F:ZSWIM6_chr5_60626321_60626538_F:ZSWIM6_chr5_60626678_60627139_F:ZSWIM6_chr5_60626708_60628600_F 5 . -1 -1 . -1 . . . . . . . chr5 75698982 75699112 10000 1 IQGAP2_chr5_75697663_75698026_F 1 . -1 -1 . -1 . . . . . . . chr5 77590358 77590714 11101 2 AP3B1_chr5_77589539_77589820_F 1 . -1 -1 . -1 . . . . . . . chr5 90678845 90679981 11010 3 ARRDC3_chr5_90679835_90680013_F:ARRDC3_chr5_90680524_90680637_F 2 . -1 -1 . -1 . . . . . . . chr5 90679535 90679981 11010 3 ARRDC3_chr5_90678648_90680125_F 1 . -1 -1 . -1 . . . . . . . chr5 92915549 92915713 11000 1 NR2F1_chr5_92914746_92915169_F 1 . -1 -1 . -1 . . . . . . . chr5 95260523 95260745 11100 3 ELL2_chr5_95296400_95298103_S 1 . -1 -1 . -1 . . . . . . . chr5 95297657 95298103 11111 2 ELL2_chr5_95260523_95260780_S 1 . -1 -1 . -1 . . . . . . . chr5 95297657 95298134 11111 2 ELL2_chr5_95294794_95295285_F:ELL2_chr5_95295681_95296335_F:ELL2_chr5_95298372_95298734_F 3 . -1 -1 . -1 . . . . . . . chr5 95298072 95298134 11111 2 ELL2_chr5_95297274_95298754_F 1 . -1 -1 . -1 . . . . . . . chr5 110848391 110848657 11000 3 STARD4_chr5_110846985_110847356_F 1 . -1 -1 . -1 . . . . . . . chr5 112630650 112630761 10000 1 MCC_chr5_112628840_112629057_F 1 . -1 -1 . -1 . . . . . . . chr5 115910865 115911051 10101 1 SEMA6A_chr5_115908516_115909016_F 1 . -1 -1 . -1 . . . . . . . chr5 115910865 115911116 10101 1 SEMA6A_chr5_115911792_115912152_F 1 . -1 -1 . -1 . . . . . . . chr5 118604420 118604574 11110 1 TNFAIP8_chr5_118605337_118605637_F 1 . -1 -1 . -1 . . . . . . . chr5 122109414 122109565 10000 1 SNX2_chr5_122108155_122108524_F 1 . -1 -1 . -1 . . . . . . . chr5 122109879 122110057 10000 1 SNX2_chr5_122108155_122108524_F 1 . -1 -1 . -1 . . . . . . . chr5 122110704 122110859 11100 1 SNX2_chr5_122108155_122108524_F 1 . -1 -1 . -1 . . . . . . . chr5 124080113 124080319 11111 1 ZNF608_chr5_124077955_124078154_F 1 . -1 -1 . -1 . . . . . . . chr5 128429941 128430453 11110 2 ISOC1_chr5_128432436_128432693_F 1 . -1 -1 . -1 . . . . . . . chr5 128430772 128431065 11100 2 ISOC1_chr5_128432436_128432693_F 1 . -1 -1 . -1 . . . . . . . chr5 130970625 130971309 11111 2 RAPGEF6_chr5_130970028_130970178_F 1 . -1 -1 . -1 . . . . . . . chr5 131629444 131629905 11111 2 SLC22A4_chr5_131629178_131629624_F:SLC22A4_chr5_131629201_131630645_F 2 . -1 -1 . -1 . . . . . . . chr5 131629644 131629905 11111 2 SLC22A4_chr5_131633963_131634368_F 1 . -1 -1 . -1 . . . . . . . chr5 131634150 131634304 11000 1 SLC22A4_chr5_131629644_131634366_F:SLC22A4_chr5_131633963_131634368_F 2 . -1 -1 . -1 . . . . . . . chr5 131826458 131826770 11110 1 IRF1_chr5_131828322_131828808_F:IRF1_chr5_131830040_131830170_F 2 chr5 131826765 131826766 CR076711 - 3 FP rs2549009 IRF1 Reduced expression CAAGGCGGAGTGAGAGGACAGGCTGGGGCC[G/A]GGGGCGCTGGGCTGTCCCGGGCAGCCCTCC 18079498 chr5 132113454 132113644 11111 1 SEPT8_chr5_132115740_132115939_F:SEPT8_chr5_132115740_132115939_F 2 . -1 -1 . -1 . . . . . . . chr5 133861743 133861903 11110 1 JADE2_chr5_133332400_133332424_S:JADE2_chr5_133332518_133333000_S 2 . -1 -1 . -1 . . . . . . . chr5 133862526 133862745 11111 1 JADE2_chr5_133332400_133332424_S:JADE2_chr5_133332518_133333000_S 2 . -1 -1 . -1 . . . . . . . chr5 133863375 133863573 11111 1 JADE2_chr5_133332400_133332424_S:JADE2_chr5_133332518_133333000_S 2 . -1 -1 . -1 . . . . . . . chr5 134734889 134735202 10101 1 H2AFY_chr5_134733668_134734080_F 1 . -1 -1 . -1 . . . . . . . chr5 137368368 137368580 11110 1 FAM13B_chr5_137370531_137370718_F 1 . -1 -1 . -1 . . . . . . . chr5 137799811 137799974 11100 1 EGR1_chr5_137799762_137801681_F:EGR1_chr5_137799770_137800154_F 2 . -1 -1 . -1 . . . . . . . chr5 137800263 137800454 11111 1 EGR1_chr5_137799762_137801681_F 1 . -1 -1 . -1 . . . . . . . chr5 137800263 137800820 11111 1 EGR1_chr5_137799770_137800154_F:EGR1_chr5_137800240_137801681_F:EGR1_chr5_137800317_137800564_F 3 . -1 -1 . -1 . . . . . . . chr5 137878748 137879182 11111 1 ETF1_chr5_137881069_137881276_F 1 . -1 -1 . -1 . . . . . . . chr5 139030730 139031013 10000 2 CXXC5_chr5_139031397_139032095_F 1 . -1 -1 . -1 . . . . . . . chr5 139726259 139726591 11101 2 HBEGF_chr5_139724210_139724515_F 1 . -1 -1 . -1 . . . . . . . chr5 139936933 139937168 11110 2 SRA1_chr5_139933633_139933898_F 1 . -1 -1 . -1 . . . . . . . chr5 140018688 140018997 11100 4 TMCO6_chr5_140014772_140015494_S:TMCO6_chr5_140943997_140944297_S 2 . -1 -1 . -1 . . . . . . . chr5 140019436 140019675 11100 1 TMCO6_chr5_140014772_140015494_S:TMCO6_chr5_140943997_140944297_S 2 . -1 -1 . -1 . . . . . . . chr5 140943997 140944297 11101 1 DIAPH1_chr5_140998044_140999078_S:TMCO6_chr5_140018418_140019675_S 2 . -1 -1 . -1 . . . . . . . chr5 140998514 140998913 11111 1 DIAPH1_chr5_140014772_140015494_S:DIAPH1_chr5_140943997_140944297_S 2 . -1 -1 . -1 . . . . . . . chr5 141393730 141393921 11000 2 GNPDA1_chr5_141395225_141395941_F 1 . -1 -1 . -1 . . . . . . . chr5 141394467 141394582 10000 1 GNPDA1_chr5_141395225_141395941_F 1 . -1 -1 . -1 . . . . . . . chr5 141704519 141704744 11111 2 SPRY4_chr5_141739222_141740857_S 1 . -1 -1 . -1 . . . . . . . chr5 141740463 141740711 10000 2 ARHGAP26_chr5_142149538_142150244_S:GNPDA1_chr5_141392363_141392950_S:SPRY4_chr5_141703550_141706264_S 3 . -1 -1 . -1 . . . . . . . chr5 142149795 142149981 11111 1 ARHGAP26_chr5_141739222_141740857_S 1 . -1 -1 . -1 . . . . . . . chr5 142783226 142783411 11100 1 NR3C1_chr5_142785420_142785784_F 1 chr5 142783268 142783269 CR113070 - 3 FP rs10482606 NR3C1 Reduced promoter activity GGGGGTGGAGTGGGAGCGCGTGTGTGCGAG[T/C]GTGTGCGCGCCGTGGCGCCGCCTCCACCCG 21234764 chr5 142784334 142784462 10100 1 NR3C1_chr5_142785420_142785784_F 1 . -1 -1 . -1 . . . . . . . chr5 146833409 146833603 10000 1 DPYSL3_chr5_146830882_146830936_F:DPYSL3_chr5_146831561_146831956_F:DPYSL3_chr5_146832241_146832308_F:DPYSL3_chr5_146834939_146835189_F 4 . -1 -1 . -1 . . . . . . . chr5 149109793 149109921 11111 1 PPARGC1B_chr5_149110531_149110757_F:PPARGC1B_chr5_149110836_149111455_F:PPARGC1B_chr5_149111957_149112473_F 3 . -1 -1 . -1 . . . . . . . chr5 149111136 149111346 11111 3 PPARGC1B_chr5_149110836_149111455_F 1 . -1 -1 . -1 . . . . . . . chr5 149111136 149111755 11111 3 PPARGC1B_chr5_149109314_149111346_F 1 . -1 -1 . -1 . . . . . . . chr5 149111136 149111788 11111 3 PPARGC1B_chr5_149111957_149112473_F 1 . -1 -1 . -1 . . . . . . . chr5 149111657 149111788 11111 3 PPARGC1B_chr5_149109314_149112416_F 1 . -1 -1 . -1 . . . . . . . chr5 149112100 149112367 11111 2 PPARGC1B_chr5_149109314_149112416_F:PPARGC1B_chr5_149111957_149112473_F 2 . -1 -1 . -1 . . . . . . . chr5 149112513 149112773 11110 2 PPARGC1B_chr5_149109314_149112416_F 1 . -1 -1 . -1 . . . . . . . chr5 149340231 149340376 10100 1 SLC26A2_chr5_149339062_149339484_F 1 . -1 -1 . -1 . . . . . . . chr5 149867329 149867637 10101 3 NDST1_chr5_149312025_149312442_S:NDST1_chr5_149540983_149541307_S:NDST1_chr5_149901800_149903152_S 3 . -1 -1 . -1 . . . . . . . chr5 149901989 149902583 11000 4 NDST1_chr5_149867329_149867714_S 1 . -1 -1 . -1 . . . . . . . chr5 149921506 149921866 10001 3 GPX3_chr5_150399849_150400552_S:RPS14_chr5_149828463_149829800_S 2 . -1 -1 . -1 . . . . . . . chr5 149922519 149922974 11111 4 GPX3_chr5_150399849_150400552_S:RPS14_chr5_149828463_149829800_S 2 . -1 -1 . -1 . . . . . . . chr5 150399831 150400064 11010 2 GPX3_chr5_150401918_150402484_F 1 . -1 -1 . -1 . . . . . . . chr5 150399849 150400064 11010 2 GPX3_chr5_149921242_149923269_S 1 . -1 -1 . -1 . . . . . . . chr5 150460564 150460789 11000 2 TNIP1_chr5_150461516_150462400_F:TNIP1_chr5_150462985_150463261_F 2 . -1 -1 . -1 . . . . . . . chr5 150535788 150536335 10110 2 ANXA6_chr5_150535996_150537943_F 1 . -1 -1 . -1 . . . . . . . chr5 150535996 150536335 10110 2 ANXA6_chr5_150536063_150536329_F 1 . -1 -1 . -1 . . . . . . . chr5 150537254 150537832 10111 1 ANXA6_chr5_150536063_150536329_F 1 . -1 -1 . -1 . . . . . . . chr5 156696469 156696658 10101 1 CYFIP2_chr5_156698884_156699173_F:CYFIP2_chr5_156700202_156700407_F 2 . -1 -1 . -1 . . . . . . . chr5 157158331 157158458 11101 1 THG1L_chr5_157156902_157157206_F 1 . -1 -1 . -1 . . . . . . . chr5 171881673 171881879 10010 1 SH3PXD2B_chr5_171879589_171880295_F:SH3PXD2B_chr5_171882832_171882998_F 2 . -1 -1 . -1 . . . . . . . chr5 172193500 172194202 11111 4 DUSP1_chr5_172193816_172198703_F 1 . -1 -1 . -1 . . . . . . . chr5 172193816 172194202 11111 4 DUSP1_chr5_172193800_172194232_F 1 . -1 -1 . -1 . . . . . . . chr5 172198056 172198566 11111 2 DUSP1_chr5_172193800_172194232_F:DUSP1_chr5_172198749_172199959_F:DUSP1_chr5_172200337_172200842_F:DUSP1_chr5_172295544_172296528_S:DUSP1_chr5_172330038_172330525_S 5 . -1 -1 . -1 . . . . . . . chr5 172198449 172198566 11111 2 DUSP1_chr5_172197702_172199555_F 1 . -1 -1 . -1 . . . . . . . chr5 172199409 172199555 11111 3 DUSP1_chr5_172198749_172199959_F 1 . -1 -1 . -1 . . . . . . . chr5 172199409 172199843 11111 3 DUSP1_chr5_172197702_172199555_F:DUSP1_chr5_172200337_172200842_F:DUSP1_chr5_172295544_172296528_S:DUSP1_chr5_172330038_172330525_S 4 . -1 -1 . -1 . . . . . . . chr5 172200904 172201063 11010 1 DUSP1_chr5_172197702_172200790_F 1 . -1 -1 . -1 . . . . . . . chr5 172259734 172259996 10000 3 ERGIC1_chr5_172257827_172258390_F 1 . -1 -1 . -1 . . . . . . . chr5 172260862 172261436 11100 1 ERGIC1_chr5_172257827_172258390_F:ERGIC1_chr5_172264744_172264958_F 2 . -1 -1 . -1 . . . . . . . chr5 172295602 172295757 10111 2 DUSP1_chr5_172197093_172199980_S 1 . -1 -1 . -1 . . . . . . . chr5 172296128 172296448 11111 3 DUSP1_chr5_172197093_172199980_S 1 . -1 -1 . -1 . . . . . . . chr5 172330038 172330114 10000 1 DUSP1_chr5_172197093_172199980_S 1 . -1 -1 . -1 . . . . . . . chr5 173315129 173315273 11111 1 CPEB4_chr5_173312606_173312854_F 1 . -1 -1 . -1 . . . . . . . chr5 175960872 175961018 10000 3 RNF44_chr5_175960399_175964921_F 1 . -1 -1 . -1 . . . . . . . chr5 175960872 175961367 10000 3 RNF44_chr5_175960481_175960718_F 1 . -1 -1 . -1 . . . . . . . chr5 175961706 175961880 10000 1 RNF44_chr5_175960481_175960718_F 1 . -1 -1 . -1 . . . . . . . chr5 175961879 175961880 10000 1 RNF44_chr5_175962239_175964921_F 1 . -1 -1 . -1 . . . . . . . chr5 175964843 175964921 10111 2 RNF44_chr5_175960481_175960718_F:RNF44_chr5_175962179_175962700_F 2 . -1 -1 . -1 . . . . . . . chr5 175964843 175965131 10111 2 CDHR2_chr5_176521400_176522200_S 1 . -1 -1 . -1 . . . . . . . chr5 176514157 176514421 10101 4 FGFR4_chr5_176521400_176522200_S 1 . -1 -1 . -1 . . . . . . . chr5 176521653 176521895 10000 2 CDHR2_chr5_175962739_175965262_S:FGFR4_chr5_176513800_176515597_S 2 . -1 -1 . -1 . . . . . . . chr5 176853451 176853561 11101 1 GRK6_chr5_176855088_176855271_F:GRK6_chr5_176856256_176856655_F 2 . -1 -1 . -1 . . . . . . . chr5 178053138 178053287 11111 1 CLK4_chr5_178052813_178053238_F:CLK4_chr5_178052825_178054554_F 2 . -1 -1 . -1 . . . . . . . chr5 179159198 179159624 11111 1 MAML1_chr5_179159030_179160351_F 1 . -1 -1 . -1 . . . . . . . chr5 179159198 179159758 11111 1 MAML1_chr5_179159137_179159324_F 1 . -1 -1 . -1 . . . . . . . chr5 179496940 179497127 10000 1 RNF130_chr5_179496772_179499609_F:RNF130_chr5_179496781_179497164_F 2 . -1 -1 . -1 . . . . . . . chr5 179498517 179498639 10000 1 RNF130_chr5_179496781_179497164_F 1 . -1 -1 . -1 . . . . . . . chr5 179498897 179499281 10000 1 RNF130_chr5_179496781_179497164_F 1 . -1 -1 . -1 . . . . . . . chr6 291514 291758 10000 1 DUSP22_chr6_290595_290748_F 1 . -1 -1 . -1 . . . . . . . chr6 292109 292566 10000 2 DUSP22_chr6_290595_290748_F 1 . -1 -1 . -1 . . . . . . . chr6 2841498 2842236 11000 2 SERPINB1_chr6_3370501_3371561_S:SERPINB1_chr6_3402800_3404563_S:SERPINB1_chr6_3835269_3836158_S 3 . -1 -1 . -1 . . . . . . . chr6 2876617 2877163 11000 4 ENSG00000230438_chr6_3402800_3404563_S 1 . -1 -1 . -1 . . . . . . . chr6 2877831 2877990 10000 1 ENSG00000230438_chr6_3402800_3404563_S 1 . -1 -1 . -1 . . . . . . . chr6 2902708 2902923 10000 1 SERPINB9_chr6_2902288_2902696_F:SERPINB9_chr6_2902292_2904045_F 2 . -1 -1 . -1 . . . . . . . chr6 2903524 2903802 10000 1 SERPINB9_chr6_2902288_2902696_F 1 . -1 -1 . -1 . . . . . . . chr6 2990114 2990265 10000 1 NQO2_chr6_2932200_2932549_S:NQO2_chr6_3002044_3002176_S:NQO2_chr6_3370501_3371561_S:NQO2_chr6_3402800_3404563_S:NQO2_chr6_3835269_3836158_S:NQO2_chr6_3906136_3907243_S 6 . -1 -1 . -1 . . . . . . . chr6 2999462 2999721 10000 2 NQO2_chr6_3402800_3404563_S 1 . -1 -1 . -1 . . . . . . . chr6 3000094 3000279 10000 2 NQO2_chr6_3402800_3404563_S 1 . -1 -1 . -1 . . . . . . . chr6 3002170 3002176 10000 2 ENSG00000230269_chr6_3195890_3196557_S:NQO2_chr6_2988639_2990649_S 2 . -1 -1 . -1 . . . . . . . chr6 3068546 3068777 10000 1 RIPK1_chr6_3402800_3404563_S:RIPK1_chr6_3906136_3907243_S 2 . -1 -1 . -1 . . . . . . . chr6 3069078 3069365 10000 1 RIPK1_chr6_3402800_3404563_S:RIPK1_chr6_3906136_3907243_S 2 . -1 -1 . -1 . . . . . . . chr6 3157683 3157919 11101 1 TUBB2A_chr6_3402800_3404563_S 1 . -1 -1 . -1 . . . . . . . chr6 3370586 3371085 11001 3 ENSG00000230269_chr6_3195890_3196557_S:NQO2_chr6_2988639_2990649_S:SERPINB1_chr6_2841399_2842351_S 3 . -1 -1 . -1 . . . . . . . chr6 3371495 3371561 10001 1 ENSG00000230269_chr6_3195890_3196557_S:NQO2_chr6_2988639_2990649_S:SERPINB1_chr6_2841399_2842351_S 3 . -1 -1 . -1 . . . . . . . chr6 3403521 3403928 11101 4 ENSG00000230269_chr6_3195890_3196557_S:ENSG00000230438_chr6_2876556_2878132_S:NQO2_chr6_2988639_2990649_S:NQO2_chr6_2999381_3000743_S:PRPF4B_chr6_4021136_4022342_S:RIPK1_chr6_3068358_3069735_S:SERPINB1_chr6_2841399_2842351_S:TUBB2A_chr6_3157342_3158237_S 8 . -1 -1 . -1 . . . . . . . chr6 3749742 3749913 10100 2 C6orf145_chr6_3749707_3750120_F:C6orf145_chr6_3749713_3752746_F 2 . -1 -1 . -1 . . . . . . . chr6 3752204 3752348 10101 1 C6orf145_chr6_3749707_3750120_F 1 . -1 -1 . -1 . . . . . . . chr6 3835554 3836129 10100 3 ENSG00000230269_chr6_3195890_3196557_S:NQO2_chr6_2988639_2990649_S:SERPINB1_chr6_2841399_2842351_S 3 . -1 -1 . -1 . . . . . . . chr6 3906873 3907046 10000 1 ENSG00000230269_chr6_3195890_3196557_S:NQO2_chr6_2988639_2990649_S:RIPK1_chr6_3068358_3069735_S 3 . -1 -1 . -1 . . . . . . . chr6 4021479 4021589 11000 1 PRPF4B_chr6_3402800_3404563_S 1 . -1 -1 . -1 . . . . . . . chr6 5059468 5059980 11000 4 RPP40_chr6_5003623_5004856_S 1 . -1 -1 . -1 . . . . . . . chr6 7138788 7139053 10001 1 RREB1_chr6_7560756_7562400_S 1 . -1 -1 . -1 . . . . . . . chr6 7139287 7139491 11101 3 RREB1_chr6_7560756_7562400_S 1 . -1 -1 . -1 . . . . . . . chr6 7541570 7541887 10000 1 DSP_chr6_7560756_7562400_S:DSP_chr6_8084843_8085764_S 2 . -1 -1 . -1 . . . . . . . chr6 7543268 7543614 10000 3 DSP_chr6_7560756_7562400_S:DSP_chr6_8084843_8085764_S 2 . -1 -1 . -1 . . . . . . . chr6 7561587 7562222 10000 4 BLOC1S5_chr6_8063921_8064978_S:DSP_chr6_7541252_7543625_S:RIOK1_chr6_7389473_7390618_S:RREB1_chr6_7138600_7139806_S:SNRNP48_chr6_7590195_7591046_S 5 . -1 -1 . -1 . . . . . . . chr6 8064627 8064956 11000 1 BLOC1S5_chr6_7560756_7562400_S 1 . -1 -1 . -1 . . . . . . . chr6 8085195 8085599 10000 3 DSP_chr6_7541252_7543625_S:TXNDC5_chr6_7908907_7909036_S 2 . -1 -1 . -1 . . . . . . . chr6 11207235 11207636 11001 2 ELOVL2_chr6_11043398_11045007_S 1 . -1 -1 . -1 . . . . . . . chr6 11232888 11233057 11101 1 NEDD9_chr6_11202642_11203600_S:NEDD9_chr6_11229489_11229708_F:NEDD9_chr6_11236748_11236970_F 3 . -1 -1 . -1 . . . . . . . chr6 11233547 11233657 11000 1 NEDD9_chr6_11202642_11203600_S:NEDD9_chr6_11236748_11236970_F 2 . -1 -1 . -1 . . . . . . . chr6 11323934 11324078 10101 1 ELOVL2_chr6_11043398_11045007_S 1 . -1 -1 . -1 . . . . . . . chr6 11366918 11367118 10000 1 ELOVL2_chr6_11043398_11045007_S 1 . -1 -1 . -1 . . . . . . . chr6 11367895 11368283 10000 2 ELOVL2_chr6_11043398_11045007_S 1 . -1 -1 . -1 . . . . . . . chr6 11398739 11398938 10000 3 ELOVL2_chr6_11043398_11045007_S 1 . -1 -1 . -1 . . . . . . . chr6 11399213 11399523 10000 2 ELOVL2_chr6_11043398_11045007_S 1 . -1 -1 . -1 . . . . . . . chr6 13406492 13406748 11000 3 SIRT5_chr6_13574039_13575695_S 1 . -1 -1 . -1 . . . . . . . chr6 13407944 13408328 00000 3 SIRT5_chr6_13574039_13575695_S 1 . -1 -1 . -1 . . . . . . . chr6 13574595 13574849 11000 1 SIRT5_chr6_13406327_13408801_S 1 . -1 -1 . -1 . . . . . . . chr6 13575112 13575681 11001 2 SIRT5_chr6_13406327_13408801_S 1 . -1 -1 . -1 . . . . . . . chr6 16539903 16540103 10000 1 ATXN1_chr6_16759876_16762643_S:ATXN1_chr6_16763403_16763495_S 2 . -1 -1 . -1 . . . . . . . chr6 16699800 16699945 10000 3 ATXN1_chr6_16759876_16762643_S 1 . -1 -1 . -1 . . . . . . . chr6 16759914 16760535 11101 2 ATXN1_chr6_16539400_16540357_S:ATXN1_chr6_16699800_16701050_S:ATXN1_chr6_16756855_16757000_S 3 . -1 -1 . -1 . . . . . . . chr6 16761246 16761386 10100 2 ATXN1_chr6_16539400_16540357_S:ATXN1_chr6_16699800_16701050_S:ATXN1_chr6_16756855_16757000_S 3 . -1 -1 . -1 . . . . . . . chr6 16761866 16762223 10101 2 ATXN1_chr6_16539400_16540357_S:ATXN1_chr6_16699800_16701050_S:ATXN1_chr6_16756855_16757000_S 3 . -1 -1 . -1 . . . . . . . chr6 16763403 16763495 10101 1 ATXN1_chr6_16539400_16540357_S 1 . -1 -1 . -1 . . . . . . . chr6 17703669 17703842 11000 1 NUP153_chr6_17703349_17707318_F:NUP153_chr6_17703484_17703614_F 2 . -1 -1 . -1 . . . . . . . chr6 17707065 17707313 11101 3 NUP153_chr6_17703484_17703614_F 1 . -1 -1 . -1 . . . . . . . chr6 18153648 18153744 11101 2 KDM1B_chr6_18153063_18156119_F 1 . -1 -1 . -1 . . . . . . . chr6 18153648 18153850 11101 2 KDM1B_chr6_18153083_18153444_F 1 . -1 -1 . -1 . . . . . . . chr6 18155498 18155647 10101 1 KDM1B_chr6_18153083_18153444_F 1 . -1 -1 . -1 . . . . . . . chr6 18264648 18265140 11101 1 DEK_chr6_18263099_18263635_F 1 . -1 -1 . -1 . . . . . . . chr6 18387484 18387784 11101 3 RNF144B_chr6_18391380_18391715_F 1 . -1 -1 . -1 . . . . . . . chr6 18389264 18389563 11101 2 RNF144B_chr6_18391380_18391715_F 1 . -1 -1 . -1 . . . . . . . chr6 18389797 18390116 11101 1 RNF144B_chr6_18391380_18391715_F 1 . -1 -1 . -1 . . . . . . . chr6 26016893 26017099 10000 1 HIST1H1A_chr6_26016670_26018540_F:HIST1H1A_chr6_26016753_26016987_F 2 . -1 -1 . -1 . . . . . . . chr6 26126394 26126517 11000 1 HIST1H2AC_chr6_26123872_26126770_F:HIST1H2AC_chr6_26126352_26126787_F 2 . -1 -1 . -1 . . . . . . . chr6 27779963 27780131 10000 1 HIST1H3H_chr6_27780866_27781094_F 1 . -1 -1 . -1 . . . . . . . chr6 27806086 27806327 10000 1 HIST1H2AK_chr6_27807310_27807672_F:HIST1H2BN_chr6_27807310_27807672_F 2 . -1 -1 . -1 . . . . . . . chr6 27807397 27807613 10000 2 HIST1H2AK_chr6_27805616_27807692_F:HIST1H2AK_chr6_27807310_27807672_F:HIST1H2BN_chr6_27805939_27807692_F:HIST1H2BN_chr6_27807310_27807672_F 4 . -1 -1 . -1 . . . . . . . chr6 27860967 27861236 10000 1 HIST1H2AM_chr6_27862895_27863061_F:HIST1H2AM_chr6_27863298_27863662_F:HIST1H2BO_chr6_27094506_27094909_S:HIST1H2BO_chr6_27125000_27126151_S:HIST1H2BO_chr6_27862895_27863061_F:HIST1H2BO_chr6_27863298_27863662_F 6 . -1 -1 . -1 . . . . . . . chr6 30034665 30035044 10000 1 ENSG00000204619_chr6_30495414_30496302_S 1 . -1 -1 . -1 . . . . . . . chr6 30495783 30496109 10000 3 ENSG00000137312_chr6_30709644_30712400_S:ENSG00000137343_chr6_30594229_30595088_S:ENSG00000204619_chr6_30034406_30035434_S:ENSG00000228022_chr6_30749503_30750077_S:VARS2_chr6_30881446_30882919_S 5 . -1 -1 . -1 . . . . . . . chr6 30524246 30524907 10000 3 ENSG00000204576_chr6_31496695_31497600_S 1 . -1 -1 . -1 . . . . . . . chr6 30594414 30594967 11111 2 ENSG00000137343_chr6_30495414_30496302_S:ENSG00000137343_chr6_30509450_30509595_S:ENSG00000137343_chr6_30622800_30623660_S:ENSG00000137343_chr6_30755758_30756230_S:ENSG00000137343_chr6_30789674_30791037_S:ENSG00000137343_chr6_31496695_31497600_S 6 . -1 -1 . -1 . . . . . . . chr6 30622977 30623132 10000 1 ENSG00000137343_chr6_30594229_30595088_S 1 . -1 -1 . -1 . . . . . . . chr6 30654505 30654617 10100 1 KIAA1949_chr6_30651242_30651620_F:KIAA1949_chr6_30651242_30651620_F 2 . -1 -1 . -1 . . . . . . . chr6 30655140 30655342 10000 1 KIAA1949_chr6_30651242_30651620_F:KIAA1949_chr6_30651242_30651620_F 2 . -1 -1 . -1 . . . . . . . chr6 30690526 30690834 10000 1 ENSG00000137337_chr6_30707439_30707800_S 1 . -1 -1 . -1 . . . . . . . chr6 30710452 30711087 10000 4 ENSG00000137312_chr6_30495414_30496302_S:ENSG00000137312_chr6_30789674_30791037_S 2 . -1 -1 . -1 . . . . . . . chr6 30749586 30749937 10010 3 ENSG00000228022_chr6_30495414_30496302_S 1 . -1 -1 . -1 . . . . . . . chr6 30755878 30756061 10000 1 ENSG00000137343_chr6_30594229_30595088_S 1 . -1 -1 . -1 . . . . . . . chr6 30881520 30882099 11111 1 VARS2_chr6_30495414_30496302_S:VARS2_chr6_30789674_30791037_S:VARS2_chr6_31496695_31497600_S 3 . -1 -1 . -1 . . . . . . . chr6 31239480 31239974 00000 2 HLA-C_chr6_31240851_31241006_F 1 chr6 31239627 31239629 CX087937 - 4 FP NULL HLA-C HLA-C null allele CTCCTCGCCCCCAGGCTCCCACTCCATGAG[GTA/CT]TTTCGACACCGCCGTGTCCCGGCCCGGCCG 18380775 chr6 31508945 31509141 11100 1 ENSG00000198563_chr6_30707439_30707800_S:ENSG00000198563_chr6_31496695_31497600_S 2 . -1 -1 . -1 . . . . . . . chr6 31510122 31510258 11110 1 ENSG00000198563_chr6_30707439_30707800_S:ENSG00000198563_chr6_31496695_31497600_S 2 . -1 -1 . -1 . . . . . . . chr6 31620385 31620997 11111 2 ENSG00000204444_chr6_31496695_31497600_S:ENSG00000204444_chr6_32086704_32087501_S 2 . -1 -1 . -1 . . . . . . . chr6 31623523 31623745 11111 2 ENSG00000204439_chr6_30789674_30791037_S:ENSG00000204439_chr6_32086704_32087501_S 2 . -1 -1 . -1 . . . . . . . chr6 31697574 31697762 11010 1 ENSG00000213722_chr6_30707439_30707800_S:ENSG00000213722_chr6_30789674_30791037_S:ENSG00000213722_chr6_31496695_31497600_S:ENSG00000213722_chr6_31799000_31799769_S:ENSG00000213722_chr6_31838400_31839200_S:ENSG00000213722_chr6_32086704_32087501_S 6 . -1 -1 . -1 . . . . . . . chr6 31706202 31706442 10010 2 CLIC1_chr6_31703840_31706074_F 1 . -1 -1 . -1 . . . . . . . chr6 31706202 31706747 10010 2 ENSG00000204410_chr6_30707439_30707800_S:ENSG00000204410_chr6_30712400_30712708_S:ENSG00000204410_chr6_30789674_30791037_S:ENSG00000204410_chr6_31496695_31497600_S:ENSG00000204410_chr6_32086704_32087501_S 5 . -1 -1 . -1 . . . . . . . chr6 31707230 31707796 11010 1 ENSG00000204410_chr6_30707439_30707800_S:ENSG00000204410_chr6_30712400_30712708_S:ENSG00000204410_chr6_30789674_30791037_S:ENSG00000204410_chr6_31496695_31497600_S:ENSG00000204410_chr6_32086704_32087501_S 5 . -1 -1 . -1 . . . . . . . chr6 31795024 31796000 10010 3 ENSG00000204388_chr6_32086704_32087501_S 1 chr6 31795275 31795276 CR043381 + 3 FP rs11576017 HSPA1B Altered promoter activity ATGGAGACCAACACCCTTCCCACCACCACT[C/T]CCCCTTTCTCTCAGGGCCCCTGTCCCCTCC 15511631 chr6 31795024 31796000 10010 3 ENSG00000204388_chr6_32086704_32087501_S 1 chr6 31795550 31795551 CR1110496 + 3 DFP rs6457452 HSPA1B Lung cancer: increased risk: association with GCCAGCCTGAGGAGCTGCTGCGAGGGTCCG[C/T]TTCGTCTTTCGAGAGTGACTCCCGCGGTCC 22037874 chr6 31831521 31831685 10010 1 ENSG00000204385_chr6_32086704_32087501_S 1 . -1 -1 . -1 . . . . . . . chr6 31870452 31870483 10111 1 ENSG00000166278_chr6_32086704_32087501_S 1 . -1 -1 . -1 . . . . . . . chr6 31913400 31913989 11111 4 ENSG00000166278_chr6_32086704_32087501_S 1 . -1 -1 . -1 . . . . . . . chr6 32087167 32087339 10000 1 ENSG00000166278_chr6_31869296_31870483_S:ENSG00000166278_chr6_31913400_31914525_S:ENSG00000198563_chr6_31514535_31514805_S:ENSG00000204256_chr6_32935800_32941216_S:ENSG00000204314_chr6_32121034_32122747_S:ENSG00000204385_chr6_31831251_31832588_S:ENSG00000204385_chr6_31832696_31834022_S:ENSG00000204388_chr6_31794953_31796000_S:ENSG00000204410_chr6_31702473_31708092_S:ENSG00000204439_chr6_31623301_31623964_S:ENSG00000204444_chr6_31619469_31621237_S:ENSG00000213722_chr6_31696970_31698283_S 12 . -1 -1 . -1 . . . . . . . chr6 32121910 32122094 11110 1 ENSG00000204314_chr6_32086704_32087501_S 1 . -1 -1 . -1 . . . . . . . chr6 32407523 32407689 10000 1 HLA-DRA_chr6_32405012_32405514_F:HLA-DRA_chr6_32406945_32406991_F 2 . -1 -1 . -1 . . . . . . . chr6 32557505 32557754 10101 1 HLA-DRB1_chr6_32555783_32556185_F 1 . -1 -1 . -1 . . . . . . . chr6 32936197 32936500 11010 1 ENSG00000204256_chr6_32086704_32087501_S 1 . -1 -1 . -1 . . . . . . . chr6 32937629 32937739 11000 1 ENSG00000204256_chr6_32086704_32087501_S 1 . -1 -1 . -1 . . . . . . . chr6 32938674 32938903 11010 1 ENSG00000204256_chr6_32086704_32087501_S 1 . -1 -1 . -1 . . . . . . . chr6 32939374 32939962 11010 1 ENSG00000204256_chr6_32086704_32087501_S 1 . -1 -1 . -1 . . . . . . . chr6 33216984 33217253 11000 2 ENSG00000232940_chr6_33553200_33553518_S:ENSG00000232940_chr6_33553671_33554000_S 2 . -1 -1 . -1 . . . . . . . chr6 33712009 33712266 11000 2 IP6K3_chr6_33712196_33715262_F 1 . -1 -1 . -1 . . . . . . . chr6 33712196 33712266 11000 2 IP6K3_chr6_33712309_33712484_F 1 . -1 -1 . -1 . . . . . . . chr6 33714677 33714882 10000 1 IP6K3_chr6_33712309_33712484_F 1 . -1 -1 . -1 . . . . . . . chr6 34760566 34760997 11110 1 UHRF1BP1_chr6_34760607_34760986_F 1 . -1 -1 . -1 . . . . . . . chr6 34760566 34761026 11110 1 UHRF1BP1_chr6_34759293_34760997_F 1 . -1 -1 . -1 . . . . . . . chr6 35227137 35227480 10010 1 ZNF76_chr6_35228332_35228733_F 1 . -1 -1 . -1 . . . . . . . chr6 35310201 35310334 11000 1 PPARD_chr6_35311267_35311540_F 1 . -1 -1 . -1 . . . . . . . chr6 35311314 35311509 11010 1 PPARD_chr6_35309834_35311604_F:PPARD_chr6_35311267_35311540_F 2 . -1 -1 . -1 . . . . . . . chr6 35995294 35995532 10000 2 SLC26A8_chr6_36634666_36635390_S 1 . -1 -1 . -1 . . . . . . . chr6 36409203 36409468 10000 2 KCTD20_chr6_36409169_36411044_F:KCTD20_chr6_36409257_36409482_F:PXT1_chr6_36409169_36411166_F:PXT1_chr6_36409257_36409482_F 4 . -1 -1 . -1 . . . . . . . chr6 36410660 36410770 11010 1 KCTD20_chr6_36409257_36409482_F:PXT1_chr6_36409257_36409482_F 2 . -1 -1 . -1 . . . . . . . chr6 36534344 36534607 11000 1 PIM1_chr6_37137800_37140325_S 1 . -1 -1 . -1 . . . . . . . chr6 36576047 36576162 10000 1 PIM1_chr6_37137800_37140325_S 1 . -1 -1 . -1 . . . . . . . chr6 36576996 36577199 10000 2 PIM1_chr6_37137800_37140325_S 1 . -1 -1 . -1 . . . . . . . chr6 36634894 36635090 10000 2 C6orf89_chr6_36853372_36854111_S:PIM1_chr6_37137800_37140325_S:SLC26A8_chr6_35995192_35996870_S 3 . -1 -1 . -1 . . . . . . . chr6 36820318 36820483 10000 1 PIM1_chr6_37137800_37140325_S 1 . -1 -1 . -1 . . . . . . . chr6 36853552 36853732 11010 1 C6orf89_chr6_36062647_36063000_S:C6orf89_chr6_36634666_36635390_S 2 . -1 -1 . -1 . . . . . . . chr6 37074766 37075110 11100 1 PIM1_chr6_37137800_37140325_S 1 . -1 -1 . -1 . . . . . . . chr6 37112326 37112692 10010 2 PIM1_chr6_37137800_37140325_S 1 . -1 -1 . -1 . . . . . . . chr6 37115978 37116442 11010 3 PIM1_chr6_37137800_37140325_S 1 . -1 -1 . -1 . . . . . . . chr6 37137800 37137972 11010 2 PIM1_chr6_36390461_36390800_S:PIM1_chr6_36534343_36535000_S:PIM1_chr6_36575800_36577400_S:PIM1_chr6_36611600_36611800_S:PIM1_chr6_36634666_36635390_S:PIM1_chr6_36820275_36820875_S:PIM1_chr6_37050776_37050800_S:PIM1_chr6_37074531_37075399_S:PIM1_chr6_37112129_37112891_S:PIM1_chr6_37115453_37116583_S:PIM1_chr6_37210294_37210793_S:PIM1_chr6_37212400_37213156_S:PIM1_chr6_37292657_37293629_S:PIM1_chr6_37321200_37321400_S:PIM1_chr6_37850182_37850320_S:PIM1_chr6_37850478_37851155_S:PIM1_chr6_37888530_37888751_S:PIM1_chr6_37898635_37898952_S:PIM1_chr6_37955477_37955669_S:PIM1_chr6_37956400_37956529_S 20 . -1 -1 . -1 . . . . . . . chr6 37139885 37140296 11010 3 PIM1_chr6_36390461_36390800_S:PIM1_chr6_36534343_36535000_S:PIM1_chr6_36575800_36577400_S:PIM1_chr6_36611600_36611800_S:PIM1_chr6_36634666_36635390_S:PIM1_chr6_36820275_36820875_S:PIM1_chr6_37050776_37050800_S:PIM1_chr6_37074531_37075399_S:PIM1_chr6_37112129_37112891_S:PIM1_chr6_37115453_37116583_S:PIM1_chr6_37210294_37210793_S:PIM1_chr6_37212400_37213156_S:PIM1_chr6_37292657_37293629_S:PIM1_chr6_37321200_37321400_S:PIM1_chr6_37850182_37850320_S:PIM1_chr6_37850478_37851155_S:PIM1_chr6_37888530_37888751_S:PIM1_chr6_37898635_37898952_S:PIM1_chr6_37955477_37955669_S:PIM1_chr6_37956400_37956529_S 20 . -1 -1 . -1 . . . . . . . chr6 37212502 37212900 11110 4 PIM1_chr6_37137800_37140325_S 1 . -1 -1 . -1 . . . . . . . chr6 37292859 37293073 10000 2 PIM1_chr6_37137800_37140325_S 1 . -1 -1 . -1 . . . . . . . chr6 37293562 37293629 10000 1 PIM1_chr6_37137800_37140325_S 1 . -1 -1 . -1 . . . . . . . chr6 37664911 37665038 10000 1 MDGA1_chr6_37661443_37661783_F:MDGA1_chr6_37663186_37663424_F 2 . -1 -1 . -1 . . . . . . . chr6 37850552 37850701 10000 2 PIM1_chr6_37137800_37140325_S 1 . -1 -1 . -1 . . . . . . . chr6 37850991 37851145 10000 1 PIM1_chr6_37137800_37140325_S 1 . -1 -1 . -1 . . . . . . . chr6 37898635 37898774 10101 3 PIM1_chr6_37137800_37140325_S 1 . -1 -1 . -1 . . . . . . . chr6 39197171 39197501 10010 1 KCNK5_chr6_39195802_39196179_F 1 . -1 -1 . -1 . . . . . . . chr6 39280648 39280922 11000 1 KCNK17_chr6_39280687_39282736_F:KCNK17_chr6_39280687_39282737_F 2 . -1 -1 . -1 . . . . . . . chr6 39280687 39280922 11000 1 KCNK17_chr6_39280684_39281091_F:KCNK17_chr6_39280684_39281091_F 2 . -1 -1 . -1 . . . . . . . chr6 41006915 41007261 10000 1 UNC5CL_chr6_41008417_41008606_F 1 . -1 -1 . -1 . . . . . . . chr6 41007200 41007261 10000 1 TSPO2_chr6_41536200_41536800_S 1 . -1 -1 . -1 . . . . . . . chr6 41008325 41008682 11000 3 TSPO2_chr6_41008311_41010737_F:TSPO2_chr6_41008311_41010957_F:TSPO2_chr6_41008417_41008606_F:TSPO2_chr6_41008417_41008606_F:TSPO2_chr6_41536200_41536800_S:UNC5CL_chr6_41006437_41008712_F:UNC5CL_chr6_41008417_41008606_F 7 . -1 -1 . -1 . . . . . . . chr6 41536378 41536715 11101 3 ENSG00000226917_chr6_41486775_41488400_S:MRPS10_chr6_42185327_42185824_S:PRICKLE4_chr6_41747246_41748293_S:PRICKLE4_chr6_41754071_41756154_S:TSPO2_chr6_41007200_41009000_S 5 . -1 -1 . -1 . . . . . . . chr6 41747627 41747800 11111 1 PRICKLE4_chr6_41031569_41032147_S:PRICKLE4_chr6_41536200_41536800_S 2 . -1 -1 . -1 . . . . . . . chr6 41909493 41909706 10000 1 CCND3_chr6_41906927_41907077_F:CCND3_chr6_41907242_41907431_F 2 . -1 -1 . -1 . . . . . . . chr6 42016321 42016789 10111 1 CCND3_chr6_42013318_42013860_F 1 . -1 -1 . -1 . . . . . . . chr6 42185578 42185741 10010 1 MRPS10_chr6_41536200_41536800_S 1 . -1 -1 . -1 . . . . . . . chr6 42694390 42694553 10000 1 PRPH2_chr6_42689857_42694736_F:PRPH2_chr6_42694331_42694739_F 2 . -1 -1 . -1 . . . . . . . chr6 42907205 42907755 10111 3 VEGFA_chr6_43737115_43739800_S 1 . -1 -1 . -1 . . . . . . . chr6 43021478 43021758 11110 1 CUL7_chr6_43142400_43142800_S:CUL7_chr6_43463997_43464489_S:CUL7_chr6_43464652_43464860_S 3 . -1 -1 . -1 . . . . . . . chr6 43142412 43142543 10101 1 CUL7_chr6_43020738_43021844_S:VEGFA_chr6_43737115_43739800_S 2 . -1 -1 . -1 . . . . . . . chr6 43258653 43258800 11010 2 SLC35B2_chr6_44224257_44225709_S:VEGFA_chr6_43737115_43739800_S 2 . -1 -1 . -1 . . . . . . . chr6 43737880 43738495 11111 2 VEGFA_chr6_42907000_42907875_S:VEGFA_chr6_43142400_43142800_S:VEGFA_chr6_43258116_43258800_S:VEGFA_chr6_43463997_43464489_S:VEGFA_chr6_43464652_43464860_S:VEGFA_chr6_43806292_43806693_S:VEGFA_chr6_43918802_43919042_S:VEGFA_chr6_44079600_44080000_S 8 chr6 43738350 43738351 CR021404 + 3 DFP rs2010963 VEGFA Diabetic retinopathy: association with GAGAGCGCGCGGGCGTGCGAGCAGCGAAAG[G/C]GACAGGGGCAAAGTGAGTGACCTGCTTTTG 11978667 chr6 43737880 43738495 11111 2 VEGFA_chr6_42907000_42907875_S:VEGFA_chr6_43142400_43142800_S:VEGFA_chr6_43258116_43258800_S:VEGFA_chr6_43463997_43464489_S:VEGFA_chr6_43464652_43464860_S:VEGFA_chr6_43806292_43806693_S:VEGFA_chr6_43918802_43919042_S:VEGFA_chr6_44079600_44080000_S 8 chr6 43738465 43738466 CI103232 + 6 DM NULL VEGFA Left ventricular outflow tract obstruction CAGTCGCGCTGACGGACAGACAGACAGACA[-/GACA]CCGCCCCCAGCCCCAGCTACCACCTCCTCC 20420808 chr6 43739310 43739800 11111 2 VEGFA_chr6_42907000_42907875_S:VEGFA_chr6_43142400_43142800_S:VEGFA_chr6_43258116_43258800_S:VEGFA_chr6_43463997_43464489_S:VEGFA_chr6_43464652_43464860_S:VEGFA_chr6_43806292_43806693_S:VEGFA_chr6_43918802_43919042_S:VEGFA_chr6_44079600_44080000_S 8 . -1 -1 . -1 . . . . . . . chr6 43806448 43806693 11111 1 POLR1C_chr6_43474717_43475139_S:VEGFA_chr6_43737115_43739800_S 2 . -1 -1 . -1 . . . . . . . chr6 44079670 44079973 10000 3 SLC35B2_chr6_44224257_44225709_S:VEGFA_chr6_43737115_43739800_S 2 . -1 -1 . -1 . . . . . . . chr6 44185977 44186085 10100 2 SLC29A1_chr6_44186193_44187742_F 1 . -1 -1 . -1 . . . . . . . chr6 44186823 44187007 10101 1 SLC29A1_chr6_44186277_44186510_F 1 . -1 -1 . -1 . . . . . . . chr6 44189064 44189238 10110 1 SLC29A1_chr6_44888361_44889800_S 1 . -1 -1 . -1 . . . . . . . chr6 44189626 44189645 10101 1 SLC29A1_chr6_44888361_44889800_S 1 . -1 -1 . -1 . . . . . . . chr6 44233235 44233357 10000 1 NFKBIE_chr6_44230828_44231731_F 1 . -1 -1 . -1 . . . . . . . chr6 44888704 44889180 10000 3 ENSG00000231881_chr6_44040725_44042788_S:SLC29A1_chr6_44189000_44189645_S:SLC35B2_chr6_44224257_44225709_S:SUPT3H_chr6_45344781_45346328_S 4 . -1 -1 . -1 . . . . . . . chr6 44889645 44889800 10010 1 ENSG00000231881_chr6_44040725_44042788_S:SLC29A1_chr6_44189000_44189645_S:SLC35B2_chr6_44224257_44225709_S:SUPT3H_chr6_45344781_45346328_S 4 . -1 -1 . -1 . . . . . . . chr6 46097534 46097671 10000 1 ENPP4_chr6_46096116_46096332_F 1 . -1 -1 . -1 . . . . . . . chr6 47041057 47041341 10000 4 TNFRSF21_chr6_47276365_47277897_S 1 . -1 -1 . -1 . . . . . . . chr6 47103671 47103857 11010 1 TNFRSF21_chr6_47276365_47277897_S 1 . -1 -1 . -1 . . . . . . . chr6 47156356 47156604 10000 1 TNFRSF21_chr6_47276365_47277897_S 1 . -1 -1 . -1 . . . . . . . chr6 47277613 47277768 11100 1 TNFRSF21_chr6_47040592_47040938_S:TNFRSF21_chr6_47041057_47042111_S:TNFRSF21_chr6_47062039_47062854_S:TNFRSF21_chr6_47103319_47104166_S:TNFRSF21_chr6_47155569_47156755_S:TNFRSF21_chr6_47599259_47599892_S:TNFRSF21_chr6_47756099_47756191_S 7 . -1 -1 . -1 . . . . . . . chr6 52098916 52099040 11000 1 GSTA4_chr6_52859339_52860487_S:GSTA5_chr6_52704332_52704585_S 2 . -1 -1 . -1 . . . . . . . chr6 52441104 52441261 11000 1 TRAM2_chr6_52439625_52439825_F 1 . -1 -1 . -1 . . . . . . . chr6 52455047 52455484 10000 2 GSTA4_chr6_52859339_52860487_S:GSTA5_chr6_52704332_52704585_S 2 . -1 -1 . -1 . . . . . . . chr6 52589500 52589506 10000 2 ENSG00000216775_chr6_52528579_52528673_S:GCLC_chr6_53408844_53410157_S:GSTA4_chr6_52859339_52860487_S:GSTA5_chr6_52704332_52704585_S:ICK_chr6_52926063_52926965_S 5 . -1 -1 . -1 . . . . . . . chr6 52590587 52590964 10000 4 ENSG00000216775_chr6_52528579_52528673_S:GCLC_chr6_53408844_53410157_S:GSTA4_chr6_52859339_52860487_S:GSTA5_chr6_52704332_52704585_S:ICK_chr6_52926063_52926965_S 5 . -1 -1 . -1 . . . . . . . chr6 52704332 52704398 10000 1 GSTA5_chr6_52098916_52099085_S:GSTA5_chr6_52264865_52265766_S:GSTA5_chr6_52455000_52455633_S:GSTA5_chr6_52589500_52591014_S:GSTA5_chr6_52860800_52861561_S:GSTA5_chr6_52861681_52861914_S:GSTA5_chr6_53357600_53357837_S:GSTA5_chr6_53357980_53358600_S:GSTA5_chr6_53593290_53593507_S 9 . -1 -1 . -1 . . . . . . . chr6 52860329 52860487 11111 2 GSTA4_chr6_52098916_52099085_S:GSTA4_chr6_52264865_52265766_S:GSTA4_chr6_52455000_52455633_S:GSTA4_chr6_52589500_52591014_S:GSTA4_chr6_53171229_53172200_S:GSTA4_chr6_53357600_53357837_S:GSTA4_chr6_53357980_53358600_S:GSTA4_chr6_53593290_53593507_S 8 . -1 -1 . -1 . . . . . . . chr6 53171371 53171886 10011 3 GSTA4_chr6_52859339_52860487_S:ICK_chr6_52926063_52926965_S 2 . -1 -1 . -1 . . . . . . . chr6 53409834 53409994 11010 1 GCLC_chr6_52589500_52591014_S:GCLC_chr6_53412768_53413364_F 2 . -1 -1 . -1 . . . . . . . chr6 53412127 53412236 10000 1 GCLC_chr6_53412768_53413364_F 1 . -1 -1 . -1 . . . . . . . chr6 53412515 53413258 11010 2 GCLC_chr6_53409426_53413267_F:GCLC_chr6_53412768_53413364_F 2 . -1 -1 . -1 . . . . . . . chr6 53659688 53659802 11100 1 LRRC1_chr6_53660581_53660848_F 1 . -1 -1 . -1 . . . . . . . chr6 64162102 64162388 10000 4 PTP4A1_chr6_64281532_64284538_S 1 . -1 -1 . -1 . . . . . . . chr6 64168517 64168968 11111 4 PTP4A1_chr6_64281532_64284538_S 1 . -1 -1 . -1 . . . . . . . chr6 64219713 64219834 10111 1 PTP4A1_chr6_64281532_64284538_S 1 . -1 -1 . -1 . . . . . . . chr6 64219999 64220333 11010 4 PTP4A1_chr6_64281532_64284538_S 1 . -1 -1 . -1 . . . . . . . chr6 64223987 64225064 11010 4 PHF3_chr6_64345473_64346908_S:PTP4A1_chr6_64281532_64284538_S 2 . -1 -1 . -1 . . . . . . . chr6 64237640 64237872 11101 2 PTP4A1_chr6_64281532_64284538_S 1 . -1 -1 . -1 . . . . . . . chr6 64281532 64282494 11010 4 PTP4A1_chr6_64063173_64063347_S:PTP4A1_chr6_64161917_64162388_S:PTP4A1_chr6_64168059_64169196_S:PTP4A1_chr6_64219548_64221074_S:PTP4A1_chr6_64223933_64225400_S:PTP4A1_chr6_64236929_64238765_S 6 . -1 -1 . -1 . . . . . . . chr6 64283428 64283542 11010 1 PTP4A1_chr6_64063173_64063347_S:PTP4A1_chr6_64161917_64162388_S:PTP4A1_chr6_64168059_64169196_S:PTP4A1_chr6_64219548_64221074_S:PTP4A1_chr6_64223933_64225400_S:PTP4A1_chr6_64236929_64238765_S 6 . -1 -1 . -1 . . . . . . . chr6 64283873 64283974 10000 1 PTP4A1_chr6_64063173_64063347_S:PTP4A1_chr6_64161917_64162388_S:PTP4A1_chr6_64168059_64169196_S:PTP4A1_chr6_64219548_64221074_S:PTP4A1_chr6_64223933_64225400_S:PTP4A1_chr6_64236929_64238765_S 6 . -1 -1 . -1 . . . . . . . chr6 64284316 64284457 11010 1 PTP4A1_chr6_64063173_64063347_S:PTP4A1_chr6_64161917_64162388_S:PTP4A1_chr6_64168059_64169196_S:PTP4A1_chr6_64219548_64221074_S:PTP4A1_chr6_64223933_64225400_S:PTP4A1_chr6_64236929_64238765_S 6 . -1 -1 . -1 . . . . . . . chr6 64345577 64345760 11011 2 PHF3_chr6_64223933_64225400_S 1 . -1 -1 . -1 . . . . . . . chr6 64346075 64346335 11010 2 PHF3_chr6_64223933_64225400_S 1 . -1 -1 . -1 . . . . . . . chr6 75914002 75914190 10000 1 COL12A1_chr6_75911376_75911573_F:COL12A1_chr6_75914221_75916123_F 2 . -1 -1 . -1 . . . . . . . chr6 88410149 88410951 11111 3 AKIRIN2_chr6_88408243_88408692_F 1 . -1 -1 . -1 . . . . . . . chr6 88411768 88412022 11111 3 AKIRIN2_chr6_88408243_88408692_F 1 . -1 -1 . -1 . . . . . . . chr6 90061120 90061346 10100 1 UBE2J1_chr6_90059850_90060767_F 1 . -1 -1 . -1 . . . . . . . chr6 90061123 90061346 10100 1 UBE2J1_chr6_90061317_90063119_F 1 . -1 -1 . -1 . . . . . . . chr6 90061317 90061346 10100 1 UBE2J1_chr6_90061423_90061611_F 1 . -1 -1 . -1 . . . . . . . chr6 90062443 90062768 11110 2 UBE2J1_chr6_90059850_90060767_F:UBE2J1_chr6_90061423_90061611_F 2 . -1 -1 . -1 . . . . . . . chr6 91003895 91004208 11111 2 BACH2_chr6_91004165_91007062_F:BACH2_chr6_91004165_91007127_F 2 . -1 -1 . -1 . . . . . . . chr6 91004165 91004208 11111 2 BACH2_chr6_91004075_91004656_F:BACH2_chr6_91004075_91004656_F 2 . -1 -1 . -1 . . . . . . . chr6 91006521 91006682 11101 2 BACH2_chr6_91004075_91004656_F:BACH2_chr6_91004075_91004656_F:BACH2_chr6_91004830_91005121_F:BACH2_chr6_91004830_91005121_F 4 . -1 -1 . -1 . . . . . . . chr6 108142092 108142285 11000 1 SCML4_chr6_108141724_108146021_F:SCML4_chr6_108141852_108141997_F 2 . -1 -1 . -1 . . . . . . . chr6 108143977 108144027 10000 1 SCML4_chr6_108143402_108146021_F 1 . -1 -1 . -1 . . . . . . . chr6 108143977 108144097 10000 1 SCML4_chr6_108141852_108141997_F:SCML4_chr6_108143478_108143727_F:SCML4_chr6_108144182_108146021_F 3 . -1 -1 . -1 . . . . . . . chr6 108145237 108145470 11000 3 SCML4_chr6_108141852_108141997_F:SCML4_chr6_108143478_108143727_F:SCML4_chr6_108144215_108144549_F 3 . -1 -1 . -1 . . . . . . . chr6 108145798 108145934 11000 1 SCML4_chr6_108141852_108141997_F:SCML4_chr6_108143478_108143727_F:SCML4_chr6_108144215_108144549_F 3 . -1 -1 . -1 . . . . . . . chr6 108879118 108879290 11100 1 FOXO3_chr6_108879095_108881526_F:FOXO3_chr6_108879164_108879427_F 2 . -1 -1 . -1 . . . . . . . chr6 108879221 108879290 11100 1 FOXO3_chr6_108879526_108881526_F:FOXO3_chr6_108879526_108882569_F 2 . -1 -1 . -1 . . . . . . . chr6 108879674 108879727 11110 3 FOXO3_chr6_108879095_108881526_F 1 . -1 -1 . -1 . . . . . . . chr6 108879674 108879867 11110 3 FOXO3_chr6_108879164_108879427_F:FOXO3_chr6_108879521_108879931_F:FOXO3_chr6_108879521_108879931_F:FOXO3_chr6_108879526_108881526_F:FOXO3_chr6_108879526_108882569_F 5 . -1 -1 . -1 . . . . . . . chr6 108882014 108882187 11100 1 FOXO3_chr6_108879521_108879931_F:FOXO3_chr6_108883670_108884545_F:FOXO3_chr6_108883670_108884545_F 3 . -1 -1 . -1 . . . . . . . chr6 108883447 108883632 11101 4 FOXO3_chr6_108880525_108884308_F:FOXO3_chr6_108881568_108884308_F:FOXO3_chr6_108883670_108884545_F:FOXO3_chr6_108883670_108884545_F 4 . -1 -1 . -1 . . . . . . . chr6 108883877 108884100 11111 2 FOXO3_chr6_108880525_108884308_F:FOXO3_chr6_108881568_108884308_F:FOXO3_chr6_108883670_108884545_F:FOXO3_chr6_108883670_108884545_F 4 . -1 -1 . -1 . . . . . . . chr6 109803939 109804131 10000 1 ZBTB24_chr6_109805021_109805195_F 1 . -1 -1 . -1 . . . . . . . chr6 110501123 110501676 11110 3 CDC40_chr6_110502951_110503352_F 1 . -1 -1 . -1 . . . . . . . chr6 110887006 110887200 11000 2 KIAA1919_chr6_111580179_111581039_S 1 . -1 -1 . -1 . . . . . . . chr6 111002752 111002967 10100 1 KIAA1919_chr6_111580179_111581039_S:WASF1_chr6_110499942_110500385_S 2 . -1 -1 . -1 . . . . . . . chr6 111580474 111580713 10000 1 KIAA1919_chr6_110886800_110887200_S:KIAA1919_chr6_111002630_111003640_S 2 . -1 -1 . -1 . . . . . . . chr6 111926854 111926981 11111 1 TRAF3IP2_chr6_111925507_111925888_F 1 . -1 -1 . -1 . . . . . . . chr6 112194510 112194718 10100 1 FYN_chr6_112192236_112192610_F 1 . -1 -1 . -1 . . . . . . . chr6 119030363 119030653 10100 3 C6orf204_chr6_119029991_119030657_F:C6orf204_chr6_119030124_119031738_F 2 . -1 -1 . -1 . . . . . . . chr6 119214636 119214795 11111 3 ASF1A_chr6_119214185_119215741_F 1 . -1 -1 . -1 . . . . . . . chr6 119214636 119215506 11111 3 ASF1A_chr6_119214275_119214495_F 1 . -1 -1 . -1 . . . . . . . chr6 123110237 123110456 11100 1 SMPDL3A_chr6_123111983_123112340_F 1 . -1 -1 . -1 . . . . . . . chr6 123110681 123110990 11100 2 SMPDL3A_chr6_123111983_123112340_F 1 . -1 -1 . -1 . . . . . . . chr6 123111979 123112254 11100 3 SMPDL3A_chr6_123109470_123112362_F:SMPDL3A_chr6_123111983_123112340_F 2 . -1 -1 . -1 . . . . . . . chr6 126068072 126068275 11000 2 HEY2_chr6_126067944_126071232_F:HEY2_chr6_126068034_126068254_F 2 . -1 -1 . -1 . . . . . . . chr6 126068797 126069151 11000 1 HEY2_chr6_126068034_126068254_F 1 . -1 -1 . -1 . . . . . . . chr6 126069414 126069581 11000 1 HEY2_chr6_126068034_126068254_F 1 . -1 -1 . -1 . . . . . . . chr6 126070297 126070584 11100 3 HEY2_chr6_126068034_126068254_F 1 . -1 -1 . -1 . . . . . . . chr6 126112569 126112920 10010 1 NCOA7_chr6_126111408_126113146_F:NCOA7_chr6_126112858_126113033_F 2 . -1 -1 . -1 . . . . . . . chr6 126240147 126240346 11010 3 NCOA7_chr6_126241150_126241321_F 1 . -1 -1 . -1 . . . . . . . chr6 128841673 128841823 11101 2 PTPRK_chr6_128840669_128840970_F:PTPRK_chr6_128840669_128840970_F 2 . -1 -1 . -1 . . . . . . . chr6 130031376 130031531 11100 1 ARHGAP18_chr6_130030425_130030727_F 1 . -1 -1 . -1 . . . . . . . chr6 130342213 130342499 11010 2 L3MBTL3_chr6_130339227_130342536_F:L3MBTL3_chr6_130342212_130342458_F 2 . -1 -1 . -1 . . . . . . . chr6 131136593 131137162 11100 4 MED23_chr6_131948859_131949716_S:SMLR1_chr6_131147800_131149296_S 2 . -1 -1 . -1 . . . . . . . chr6 131147800 131147803 10100 2 SMLR1_chr6_131136156_131137621_S:SMLR1_chr6_131184285_131185871_S 2 . -1 -1 . -1 . . . . . . . chr6 131148325 131149067 11100 1 SMLR1_chr6_131136156_131137621_S:SMLR1_chr6_131184285_131185871_S 2 . -1 -1 . -1 . . . . . . . chr6 131184631 131185016 10000 4 ENPP1_chr6_132128669_132129761_S:MED23_chr6_131948859_131949716_S:SMLR1_chr6_131147800_131149296_S 3 . -1 -1 . -1 . . . . . . . chr6 131185633 131185787 10000 2 ENPP1_chr6_132128669_132129761_S:MED23_chr6_131948859_131949716_S:SMLR1_chr6_131147800_131149296_S 3 . -1 -1 . -1 . . . . . . . chr6 131384540 131384677 11000 1 EPB41L2_chr6_131386975_131387183_F 1 . -1 -1 . -1 . . . . . . . chr6 131841021 131841047 11000 2 MED23_chr6_131948859_131949716_S 1 . -1 -1 . -1 . . . . . . . chr6 131948859 131949087 11101 1 MED23_chr6_131136156_131137621_S:MED23_chr6_131184285_131185871_S:MED23_chr6_131841021_131841293_S:MED23_chr6_132075632_132077013_S:MED23_chr6_132236172_132236448_S:MED23_chr6_132259000_132259400_S:MED23_chr6_132301332_132302600_S:MED23_chr6_132600808_132601063_S:MED23_chr6_132851400_132851689_S 9 . -1 -1 . -1 . . . . . . . chr6 131949260 131949598 11101 1 MED23_chr6_131136156_131137621_S:MED23_chr6_131184285_131185871_S:MED23_chr6_131841021_131841293_S:MED23_chr6_132075632_132077013_S:MED23_chr6_132236172_132236448_S:MED23_chr6_132259000_132259400_S:MED23_chr6_132301332_132302600_S:MED23_chr6_132600808_132601063_S:MED23_chr6_132851400_132851689_S 9 . -1 -1 . -1 . . . . . . . chr6 132259289 132259400 10000 3 CTGF_chr6_132271800_132273020_S:MED23_chr6_131948859_131949716_S 2 . -1 -1 . -1 . . . . . . . chr6 132272480 132272721 11000 3 CTGF_chr6_132259000_132259400_S:CTGF_chr6_132268082_132268800_S:CTGF_chr6_132301332_132302600_S 3 chr6 132272535 132272536 CR103219 - 3 DFP NULL CTGF Nephropathy: in type 1 diabetes: association with GAGCCGCGGCCGCCCGGAGCGTATAAAAGC[C/G]TCGGGCCGCCCGCCCCAAACTCACACAACA 20522428 chr6 132302133 132302353 11000 4 CTGF_chr6_132271800_132273020_S:ENPP1_chr6_132128669_132129761_S:MED23_chr6_131948859_131949716_S:RPS12_chr6_133134260_133136573_S:SLC18B1_chr6_133120010_133120369_S 5 . -1 -1 . -1 . . . . . . . chr6 132832779 132832880 10000 1 STX7_chr6_132832298_132834837_F 1 . -1 -1 . -1 . . . . . . . chr6 132832779 132832931 10000 1 STX7_chr6_132832416_132832580_F 1 . -1 -1 . -1 . . . . . . . chr6 133078913 133079054 10000 1 VNN2_chr6_133077551_133077890_F:VNN2_chr6_133077551_133077890_F 2 . -1 -1 . -1 . . . . . . . chr6 133120218 133120369 11111 2 SLC18B1_chr6_132301332_132302600_S 1 . -1 -1 . -1 . . . . . . . chr6 133134293 133134639 11010 2 RPS12_chr6_132301332_132302600_S 1 . -1 -1 . -1 . . . . . . . chr6 133135402 133135662 11111 1 RPS12_chr6_132301332_132302600_S 1 . -1 -1 . -1 . . . . . . . chr6 134519301 134519532 10001 2 SGK1_chr6_134495161_134495376_S 1 . -1 -1 . -1 . . . . . . . chr6 135503480 135503661 10000 1 MYB_chr6_135503898_135504621_F 1 . -1 -1 . -1 . . . . . . . chr6 135503598 135503661 10000 1 MYB_chr6_135501952_135504460_F 1 . -1 -1 . -1 . . . . . . . chr6 136172670 136172925 10100 2 PDE7B_chr6_136174498_136174747_F 1 . -1 -1 . -1 . . . . . . . chr6 136173590 136173799 10000 1 PDE7B_chr6_136174498_136174747_F 1 . -1 -1 . -1 . . . . . . . chr6 136174468 136174669 10000 1 PDE7B_chr6_136172333_136174823_F:PDE7B_chr6_136174498_136174747_F 2 . -1 -1 . -1 . . . . . . . chr6 137109099 137109342 10100 2 MAP3K5_chr6_137109292_137114156_F 1 . -1 -1 . -1 . . . . . . . chr6 137109292 137109342 10100 2 MAP3K5_chr6_137109342_137109643_F 1 . -1 -1 . -1 . . . . . . . chr6 137112538 137112772 10110 4 MAP3K5_chr6_137109342_137109643_F 1 . -1 -1 . -1 . . . . . . . chr6 137113452 137113891 10111 1 MAP3K5_chr6_137109342_137109643_F 1 . -1 -1 . -1 . . . . . . . chr6 137540482 137541269 11000 2 IFNGR1_chr6_137543604_137543841_F 1 chr6 137540520 137540521 CR025333 - 3 DFP rs2234711 IFNGR1 Malaria: susceptibility: association with AAGTGACGTAAGGCCGGGGCTGGAGGGCAG[T/C]GCTGGGCTGGTCCCGCAGGCGCTCGGGGTT 12023780 chr6 137540482 137541269 11000 2 IFNGR1_chr6_137543604_137543841_F 1 chr6 137541075 137541076 CR045895 - 3 FP rs1327474 IFNGR1 Increased promoter activity GAGAGCAGACCTCTTCATGAGAGGCTGCCT[A/G]ATAAACTGATTTGACACTGAATTGCTGAGA 15207788 chr6 137673119 137673350 10000 1 PERP_chr6_138428057_138429134_S:TNFAIP3_chr6_138187615_138189518_S 2 . -1 -1 . -1 . . . . . . . chr6 137673955 137674259 11110 2 PERP_chr6_138428057_138429134_S:TNFAIP3_chr6_138187615_138189518_S 2 . -1 -1 . -1 . . . . . . . chr6 137674999 137675342 11001 3 PERP_chr6_138428057_138429134_S:TNFAIP3_chr6_138187615_138189518_S 2 . -1 -1 . -1 . . . . . . . chr6 138029134 138029387 10110 2 ENSG00000220412_chr6_138026447_138026575_S:TNFAIP3_chr6_138187615_138189518_S 2 . -1 -1 . -1 . . . . . . . chr6 138044428 138044772 11010 2 TNFAIP3_chr6_138187615_138189518_S 1 . -1 -1 . -1 . . . . . . . chr6 138045089 138045530 11010 4 TNFAIP3_chr6_138187615_138189518_S 1 . -1 -1 . -1 . . . . . . . chr6 138188010 138188159 11111 2 TNFAIP3_chr6_137673056_137675800_S:TNFAIP3_chr6_138018317_138019090_S:TNFAIP3_chr6_138028400_138029621_S:TNFAIP3_chr6_138043623_138045530_S:TNFAIP3_chr6_138184436_138184726_F:TNFAIP3_chr6_138871171_138872244_S 6 . -1 -1 . -1 . . . . . . . chr6 138188244 138188644 11110 1 TNFAIP3_chr6_137673056_137675800_S:TNFAIP3_chr6_138018317_138019090_S:TNFAIP3_chr6_138028400_138029621_S:TNFAIP3_chr6_138043623_138045530_S:TNFAIP3_chr6_138184436_138184726_F:TNFAIP3_chr6_138871171_138872244_S 6 . -1 -1 . -1 . . . . . . . chr6 138194443 138194910 11111 4 TNFAIP3_chr6_138194329_138194400_S 1 . -1 -1 . -1 . . . . . . . chr6 138426275 138426791 10000 3 PERP_chr6_138426472_138429160_F 1 . -1 -1 . -1 . . . . . . . chr6 138426472 138426791 10000 3 PERP_chr6_138426575_138426770_F 1 . -1 -1 . -1 . . . . . . . chr6 138427043 138427070 10000 1 PERP_chr6_138426472_138429160_F 1 . -1 -1 . -1 . . . . . . . chr6 138427043 138427163 10000 1 PERP_chr6_138426575_138426770_F:PERP_chr6_138427113_138429160_F 2 . -1 -1 . -1 . . . . . . . chr6 138427113 138427163 10000 1 PERP_chr6_138427134_138427492_F 1 . -1 -1 . -1 . . . . . . . chr6 138428521 138428702 11000 1 PERP_chr6_137673056_137675800_S:PERP_chr6_138426575_138426770_F:PERP_chr6_138427134_138427492_F:PERP_chr6_138871171_138872244_S 4 . -1 -1 . -1 . . . . . . . chr6 138428901 138429134 11010 1 PERP_chr6_137673056_137675800_S:PERP_chr6_138871171_138872244_S 2 . -1 -1 . -1 . . . . . . . chr6 138428901 138429160 11010 1 PERP_chr6_138426575_138426770_F:PERP_chr6_138427134_138427492_F 2 . -1 -1 . -1 . . . . . . . chr6 138725195 138725401 11000 2 HEBP2_chr6_138018317_138019090_S 1 . -1 -1 . -1 . . . . . . . chr6 138820482 138820807 11000 1 NHSL1_chr6_138821349_138821443_F 1 . -1 -1 . -1 . . . . . . . chr6 138821354 138821507 10000 1 NHSL1_chr6_138820078_138821597_F:NHSL1_chr6_138821349_138821443_F 2 . -1 -1 . -1 . . . . . . . chr6 138871482 138871786 11110 4 CITED2_chr6_139694257_139697333_S:PERP_chr6_138428057_138429134_S:REPS1_chr6_139308366_139309693_S:TNFAIP3_chr6_138187615_138189518_S 4 . -1 -1 . -1 . . . . . . . chr6 138893445 138893902 11110 4 NHSL1_chr6_138890859_138891324_F 1 . -1 -1 . -1 . . . . . . . chr6 139309363 139309525 10000 1 REPS1_chr6_138871171_138872244_S 1 . -1 -1 . -1 . . . . . . . chr6 139350202 139350415 10000 1 C6orf115_chr6_139351818_139352158_F 1 . -1 -1 . -1 . . . . . . . chr6 139350790 139351260 10000 3 C6orf115_chr6_139351818_139352158_F 1 . -1 -1 . -1 . . . . . . . chr6 139694257 139694437 11111 1 CITED2_chr6_138871171_138872244_S 1 . -1 -1 . -1 . . . . . . . chr6 139695691 139695887 11111 2 CITED2_chr6_138871171_138872244_S 1 . -1 -1 . -1 . . . . . . . chr6 139696526 139697305 11111 3 CITED2_chr6_138871171_138872244_S 1 . -1 -1 . -1 . . . . . . . chr6 142468227 142468711 10010 2 VTA1_chr6_142617956_142619200_S:VTA1_chr6_142652000_142652800_S:VTA1_chr6_142696600_142697726_S:VTA1_chr6_143189000_143190391_S 4 . -1 -1 . -1 . . . . . . . chr6 142652715 142652800 10000 1 VTA1_chr6_142468054_142468810_S 1 . -1 -1 . -1 . . . . . . . chr6 142696600 142696744 11010 3 AIG1_chr6_143380799_143382916_S:VTA1_chr6_142468054_142468810_S 2 . -1 -1 . -1 . . . . . . . chr6 143189159 143189443 11111 2 VTA1_chr6_142468054_142468810_S 1 . -1 -1 . -1 . . . . . . . chr6 143380849 143382404 11111 4 AIG1_chr6_142617956_142619200_S:AIG1_chr6_142696600_142697726_S:AIG1_chr6_143730346_143731120_S 3 . -1 -1 . -1 . . . . . . . chr6 143382716 143382916 11111 2 AIG1_chr6_142617956_142619200_S:AIG1_chr6_142696600_142697726_S:AIG1_chr6_143730346_143731120_S 3 . -1 -1 . -1 . . . . . . . chr6 143730545 143730712 10000 1 23758_chr6_144536698_144538032_S:AIG1_chr6_143380799_143382916_S 2 . -1 -1 . -1 . . . . . . . chr6 143771685 143772341 11111 3 ADAT2_chr6_143770817_143770943_F 1 . -1 -1 . -1 . . . . . . . chr6 144471314 144471434 10000 1 STX11_chr6_144473249_144474108_F:STX11_chr6_144474457_144475387_F 2 . -1 -1 . -1 . . . . . . . chr6 144472623 144472818 11000 2 STX11_chr6_144473249_144474108_F:STX11_chr6_144474457_144475387_F 2 . -1 -1 . -1 . . . . . . . chr6 144537339 144537549 11000 1 23758_chr6_143730346_143731120_S 1 . -1 -1 . -1 . . . . . . . chr6 146864727 146864866 10000 1 RAB32_chr6_146866760_146867250_F:RAB32_chr6_146867560_146867942_F 2 . -1 -1 . -1 . . . . . . . chr6 146865057 146865371 10000 1 RAB32_chr6_146866760_146867250_F:RAB32_chr6_146867560_146867942_F 2 . -1 -1 . -1 . . . . . . . chr6 146867691 146867884 10000 1 RAB32_chr6_146864327_146867952_F:RAB32_chr6_146867560_146867942_F 2 . -1 -1 . -1 . . . . . . . chr6 147829607 147829811 10000 1 SAMD5_chr6_147831138_147831275_F 1 . -1 -1 . -1 . . . . . . . chr6 147831076 147831345 10000 1 SAMD5_chr6_147829327_147831407_F:SAMD5_chr6_147831138_147831275_F 2 . -1 -1 . -1 . . . . . . . chr6 150284838 150285086 11000 1 ULBP1_chr6_150286198_150286452_F 1 . -1 -1 . -1 . . . . . . . chr6 151710775 151710897 11100 1 ZBTB2_chr6_151709507_151709685_F:ZBTB2_chr6_151762304_151763000_S:ZBTB2_chr6_151989696_151990200_S 3 . -1 -1 . -1 . . . . . . . chr6 151711456 151711870 10101 2 ZBTB2_chr6_151709507_151709685_F:ZBTB2_chr6_151762304_151763000_S:ZBTB2_chr6_151989696_151990200_S 3 . -1 -1 . -1 . . . . . . . chr6 151712982 151713121 11101 1 ZBTB2_chr6_151709507_151709685_F:ZBTB2_chr6_151762304_151763000_S:ZBTB2_chr6_151989696_151990200_S 3 . -1 -1 . -1 . . . . . . . chr6 151762679 151762854 11000 1 ZBTB2_chr6_151710595_151713333_S 1 . -1 -1 . -1 . . . . . . . chr6 151990066 151990200 11010 2 SYNE1_chr6_152622686_152623548_S:ZBTB2_chr6_151710595_151713333_S 2 . -1 -1 . -1 . . . . . . . chr6 152622686 152622912 11101 3 SYNE1_chr6_151989696_151990200_S 1 . -1 -1 . -1 . . . . . . . chr6 154830230 154830378 11000 1 CNKSR3_chr6_154830363_154832253_F 1 . -1 -1 . -1 . . . . . . . chr6 154830363 154830378 11000 1 CNKSR3_chr6_154830409_154830718_F 1 . -1 -1 . -1 . . . . . . . chr6 154831696 154831996 11111 2 CNKSR3_chr6_154830409_154830718_F 1 . -1 -1 . -1 . . . . . . . chr6 157101160 157101757 00000 2 ARID1B_chr6_157101566_157102083_F 1 . -1 -1 . -1 . . . . . . . chr6 157101266 157101757 00000 2 ARID1B_chr6_157098563_157102025_F 1 . -1 -1 . -1 . . . . . . . chr6 158403335 158403546 10000 2 SYNJ2_chr6_159220200_159220600_S 1 . -1 -1 . -1 . . . . . . . chr6 158663652 158663975 10000 4 SRP72P2_chr6_159220200_159220600_S 1 . -1 -1 . -1 . . . . . . . chr6 159220223 159220481 11000 2 SOD2_chr6_160112278_160112500_S:SRP72P2_chr6_158663154_158664007_S:SYNJ2_chr6_158402267_158404253_S 3 . -1 -1 . -1 . . . . . . . chr6 160112278 160112500 10010 3 SOD2_chr6_159220200_159220600_S 1 . -1 -1 . -1 . . . . . . . chr6 163601925 163602362 11000 3 QKI_chr6_163837745_163838108_S 1 . -1 -1 . -1 . . . . . . . chr6 163834985 163835259 10101 2 QKI_chr6_163833338_163833600_F 1 . -1 -1 . -1 . . . . . . . chr6 163837878 163838108 10000 2 QKI_chr6_163601912_163602362_S 1 . -1 -1 . -1 . . . . . . . chr6 166774800 166774931 11010 3 FGFR1OP_chr6_167411310_167411692_S:MPC1_chr6_166795190_166797662_S:UNC93A_chr6_167682400_167683014_S 3 . -1 -1 . -1 . . . . . . . chr6 166796422 166796952 10010 1 MPC1_chr6_166774800_166775171_S 1 . -1 -1 . -1 . . . . . . . chr6 166797544 166797662 10000 1 MPC1_chr6_166774800_166775171_S 1 . -1 -1 . -1 . . . . . . . chr6 167039755 167039928 11000 1 RPS6KA2_chr6_167038809_167038976_F 1 . -1 -1 . -1 . . . . . . . chr6 167040402 167040506 10000 1 RPS6KA2_chr6_167038809_167038976_F 1 . -1 -1 . -1 . . . . . . . chr6 167370036 167370237 11010 1 RNASET2_chr6_167372859_167373027_F 1 . -1 -1 . -1 . . . . . . . chr6 167411310 167411428 10000 4 FGFR1OP_chr6_166774800_166775171_S:FGFR1OP_chr6_167811354_167812374_S:FGFR1OP_chr6_168135600_168136777_S:FGFR1OP_chr6_168143678_168143988_S 4 . -1 -1 . -1 . . . . . . . chr6 167536398 167536553 10000 2 CCR6_chr6_167533156_167533655_F:CCR6_chr6_167534229_167534357_F:CCR6_chr6_167534948_167535213_F 3 . -1 -1 . -1 . . . . . . . chr6 167682400 167682629 10000 3 UNC93A_chr6_166774800_166775171_S 1 . -1 -1 . -1 . . . . . . . chr6 167811780 167812080 10000 2 FGFR1OP_chr6_167411310_167411692_S 1 . -1 -1 . -1 . . . . . . . chr6 168136200 168136473 11000 3 FGFR1OP_chr6_167411310_167411692_S 1 . -1 -1 . -1 . . . . . . . chr7 192433 192614 10100 2 FAM20C_chr7_191531_191871_F 1 . -1 -1 . -1 . . . . . . . chr7 193054 193272 10111 1 FAM20C_chr7_191531_191871_F 1 . -1 -1 . -1 . . . . . . . chr7 771872 772496 10000 2 GPER1_chr7_1126200_1127023_S:INTS1_chr7_1543657_1544361_S:TMEM184A_chr7_1594995_1596201_S 3 . -1 -1 . -1 . . . . . . . chr7 1126719 1126943 10000 1 GPER_chr7_1125303_1125884_F 1 . -1 -1 . -1 . . . . . . . chr7 1126719 1126958 10000 1 GPER1_chr7_771692_772513_S:GPER_chr7_1125303_1125884_F 2 . -1 -1 . -1 . . . . . . . chr7 1127642 1127784 10000 1 GPER_chr7_1125303_1125884_F 1 . -1 -1 . -1 . . . . . . . chr7 1272347 1272452 10000 1 UNCX_chr7_1270215_1270604_F 1 . -1 -1 . -1 . . . . . . . chr7 1543972 1544155 11111 1 INTS1_chr7_771692_772513_S 1 . -1 -1 . -1 . . . . . . . chr7 1571092 1571587 10111 1 MAFK_chr7_1571273_1571500_F 1 . -1 -1 . -1 . . . . . . . chr7 1571092 1571596 10111 1 MAFK_chr7_1569867_1571587_F:MAFK_chr7_1571848_1572026_F:MAFK_chr7_1572262_1572844_F:MAFK_chr7_1573524_1573718_F 4 . -1 -1 . -1 . . . . . . . chr7 1571548 1571596 10111 1 MAFK_chr7_1569867_1572138_F 1 . -1 -1 . -1 . . . . . . . chr7 1572261 1572326 11111 2 MAFK_chr7_1569867_1572138_F 1 . -1 -1 . -1 . . . . . . . chr7 1572261 1572719 11111 2 MAFK_chr7_1569867_1572754_F:MAFK_chr7_1572262_1572844_F:MAFK_chr7_1573524_1573718_F 3 . -1 -1 . -1 . . . . . . . chr7 1595087 1595223 11010 2 TMEM184A_chr7_771692_772513_S 1 . -1 -1 . -1 . . . . . . . chr7 1595694 1596085 10101 2 TMEM184A_chr7_771692_772513_S 1 . -1 -1 . -1 . . . . . . . chr7 2354223 2354401 10100 1 SNX8_chr7_2351826_2352447_F 1 . -1 -1 . -1 . . . . . . . chr7 2671241 2671438 11110 1 TTYH3_chr7_2672306_2673216_F:TTYH3_chr7_2674160_2674375_F 2 . -1 -1 . -1 . . . . . . . chr7 2672430 2672556 10100 1 TTYH3_chr7_2671102_2672962_F:TTYH3_chr7_2672306_2673216_F:TTYH3_chr7_2674160_2674375_F 3 . -1 -1 . -1 . . . . . . . chr7 4752361 4752562 11110 2 ACTB_chr7_5568964_5571966_S 1 . -1 -1 . -1 . . . . . . . chr7 5569428 5569538 10000 1 ACTB_chr7_4752200_4752777_S 1 . -1 -1 . -1 . . . . . . . chr7 5571537 5571753 10000 2 ACTB_chr7_4752200_4752777_S:ACTB_chr7_5569731_5571785_F:ACTB_chr7_5571351_5571818_F 3 . -1 -1 . -1 . . . . . . . chr7 5908785 5908800 10000 1 ACTB_chr7_5598306_5598656_S:USP42_chr7_6143809_6144774_S:USP42_chr7_6146147_6146526_S 3 . -1 -1 . -1 . . . . . . . chr7 6098257 6098466 11101 1 EIF2AK1_chr7_6096315_6096609_F 1 . -1 -1 . -1 . . . . . . . chr7 6098793 6099137 11110 2 EIF2AK1_chr7_6096315_6096609_F 1 . -1 -1 . -1 . . . . . . . chr7 6144114 6144467 11111 1 USP42_chr7_5908785_5908800_S:USP42_chr7_6145406_6145878_F:USP42_chr7_6556236_6556600_S 3 . -1 -1 . -1 . . . . . . . chr7 6145390 6145654 11010 3 USP42_chr7_6144049_6145843_F:USP42_chr7_6145406_6145878_F 2 . -1 -1 . -1 . . . . . . . chr7 7222139 7222615 11110 1 C1GALT1_chr7_7216090_7217200_S 1 . -1 -1 . -1 . . . . . . . chr7 7606091 7606690 11111 2 MIOS_chr7_7604061_7604281_F 1 . -1 -1 . -1 . . . . . . . chr7 7606115 7606690 11111 2 MIOS_chr7_7608686_7608956_F 1 . -1 -1 . -1 . . . . . . . chr7 7608641 7608809 10000 1 MIOS_chr7_7606115_7609022_F:MIOS_chr7_7608686_7608956_F 2 . -1 -1 . -1 . . . . . . . chr7 22763410 22763543 11000 1 IL6_chr7_22762844_22767266_F 1 . -1 -1 . -1 . . . . . . . chr7 22763410 22763613 11000 1 IL6_chr7_22762845_22763243_F 1 . -1 -1 . -1 . . . . . . . chr7 22765352 22765562 11000 1 IL6_chr7_22762845_22763243_F 1 . -1 -1 . -1 . . . . . . . chr7 22765979 22766112 11000 1 IL6_chr7_22762845_22763243_F 1 . -1 -1 . -1 . . . . . . . chr7 22826115 22826149 10000 1 GPNMB_chr7_23312762_23313045_S 1 . -1 -1 . -1 . . . . . . . chr7 22826241 22826290 10000 1 GPNMB_chr7_23312762_23313045_S 1 . -1 -1 . -1 . . . . . . . chr7 23312827 23312987 10000 1 GPNMB_chr7_22500135_22500368_S:GPNMB_chr7_22825549_22826149_S:GPNMB_chr7_22826241_22826611_S 3 . -1 -1 . -1 . . . . . . . chr7 23510371 23510645 00000 1 IGF2BP3_chr7_23510676_23511223_F:IGF2BP3_chr7_23513815_23514383_F 2 . -1 -1 . -1 . . . . . . . chr7 23510376 23510645 00000 1 IGF2BP3_chr7_23509494_23511150_F 1 . -1 -1 . -1 . . . . . . . chr7 23513861 23514085 00000 2 IGF2BP3_chr7_23509494_23514300_F:IGF2BP3_chr7_23513815_23514383_F 2 . -1 -1 . -1 . . . . . . . chr7 24796747 24797583 11100 2 DFNA5_chr7_24795767_24795828_F 1 . -1 -1 . -1 . . . . . . . chr7 24796747 24797611 11100 2 DFNA5_chr7_24795767_24795828_F 1 . -1 -1 . -1 . . . . . . . chr7 26332551 26332703 10000 2 SNX10_chr7_26333342_26333901_F 1 . -1 -1 . -1 . . . . . . . chr7 27176184 27176187 11000 1 ENSG00000225792_chr7_26416696_26416847_S 1 . -1 -1 . -1 . . . . . . . chr7 29234346 29234456 11111 1 CHN2_chr7_29232509_29232972_F:CHN2_chr7_29235795_29236387_F 2 . -1 -1 . -1 . . . . . . . chr7 29235422 29235528 10100 1 CHN2_chr7_29235795_29236387_F 1 . -1 -1 . -1 . . . . . . . chr7 29235495 29235528 10100 1 CHN2_chr7_29233620_29236292_F 1 . -1 -1 . -1 . . . . . . . chr7 37023892 37024057 10000 2 ELMO1_chr7_37023801_37025217_F:ELMO1_chr7_37023926_37024076_F 2 . -1 -1 . -1 . . . . . . . chr7 37394293 37394604 11100 2 ELMO1_chr7_37392771_37394725_F:ELMO1_chr7_37394321_37394728_F 2 . -1 -1 . -1 . . . . . . . chr7 37487257 37487415 10000 1 ELMO1_chr7_37487081_37487482_F:ELMO1_chr7_37487081_37487482_F:ELMO1_chr7_37487081_37489055_F:ELMO1_chr7_37487081_37489395_F 4 . -1 -1 . -1 . . . . . . . chr7 43622362 43622484 11000 1 STK17A_chr7_43625293_43625372_F:STK17A_chr7_43625905_43626316_F:STK17A_chr7_43626451_43626626_F 3 . -1 -1 . -1 . . . . . . . chr7 43623961 43624123 11010 2 STK17A_chr7_43625293_43625372_F:STK17A_chr7_43625905_43626316_F:STK17A_chr7_43626451_43626626_F 3 . -1 -1 . -1 . . . . . . . chr7 43625205 43625414 11010 1 STK17A_chr7_43622191_43625533_F:STK17A_chr7_43625293_43625372_F:STK17A_chr7_43625905_43626316_F:STK17A_chr7_43626451_43626626_F 4 . -1 -1 . -1 . . . . . . . chr7 45927763 45928072 11111 4 IGFBP1_chr7_45928899_45929352_F 1 . -1 -1 . -1 . . . . . . . chr7 47619986 47620192 10100 2 TNS3_chr7_47619931_47622242_F:TNS3_chr7_47620098_47620164_F 2 . -1 -1 . -1 . . . . . . . chr7 47621008 47621209 10101 2 TNS3_chr7_47620098_47620164_F 1 . -1 -1 . -1 . . . . . . . chr7 48128080 48128625 11100 3 UPP1_chr7_48127053_48127182_F:UPP1_chr7_48127053_48127182_F 2 . -1 -1 . -1 . . . . . . . chr7 51382654 51382678 11001 1 COBL_chr7_51382956_51385015_F 1 . -1 -1 . -1 . . . . . . . chr7 51383099 51383498 11101 2 COBL_chr7_51382954_51383359_F:COBL_chr7_51382956_51385015_F 2 . -1 -1 . -1 . . . . . . . chr7 51384026 51384216 11100 2 COBL_chr7_51382954_51383359_F 1 . -1 -1 . -1 . . . . . . . chr7 51384740 51385015 11100 1 COBL_chr7_51382954_51383359_F 1 . -1 -1 . -1 . . . . . . . chr7 55639607 55639718 10000 1 VOPP1_chr7_55637465_55637727_F:VOPP1_chr7_55637986_55638270_F:VOPP1_chr7_55638699_55638887_F 3 . -1 -1 . -1 . . . . . . . chr7 55639699 55639718 10000 1 VOPP1_chr7_55641818_55642122_F 1 . -1 -1 . -1 . . . . . . . chr7 56032379 56032770 11000 1 GBAS_chr7_56029737_56030120_F 1 . -1 -1 . -1 . . . . . . . chr7 66093387 66093497 10000 1 KCTD7_chr7_66095598_66095867_F 1 . -1 -1 . -1 . . . . . . . chr7 66093813 66093923 10000 1 KCTD7_chr7_66095598_66095867_F 1 . -1 -1 . -1 . . . . . . . chr7 66205448 66205677 11000 1 RABGEF1_chr7_66206459_66206659_F 1 . -1 -1 . -1 . . . . . . . chr7 66206409 66206604 11000 1 RABGEF1_chr7_66205142_66206760_F:RABGEF1_chr7_66206459_66206659_F 2 . -1 -1 . -1 . . . . . . . chr7 72936644 72936891 11111 2 BAZ1B_chr7_72939749_72940060_F:ENSG00000009954_chr7_73026888_73029148_S 2 . -1 -1 . -1 . . . . . . . chr7 72972024 72972483 10100 1 ENSG00000106635_chr7_73026888_73029148_S 1 . -1 -1 . -1 . . . . . . . chr7 73027124 73027481 11100 3 ENSG00000009950_chr7_73037183_73039025_S:ENSG00000009954_chr7_72935837_72937249_S:ENSG00000077800_chr7_72738189_72738446_S:ENSG00000106635_chr7_72971215_72972502_S 4 . -1 -1 . -1 . . . . . . . chr7 73027893 73028460 11100 3 ENSG00000009950_chr7_73037183_73039025_S:ENSG00000009954_chr7_72935837_72937249_S:ENSG00000077800_chr7_72738189_72738446_S:ENSG00000106635_chr7_72971215_72972502_S 4 . -1 -1 . -1 . . . . . . . chr7 73028822 73028940 11110 1 ENSG00000009950_chr7_73037183_73039025_S:ENSG00000009954_chr7_72935837_72937249_S:ENSG00000077800_chr7_72738189_72738446_S:ENSG00000106635_chr7_72971215_72972502_S 4 . -1 -1 . -1 . . . . . . . chr7 73037276 73037667 11111 3 ENSG00000009950_chr7_73026888_73029148_S:MLXIPL_chr7_73037160_73039370_F:MLXIPL_chr7_73037168_73037552_F 3 . -1 -1 . -1 . . . . . . . chr7 73153180 73153595 10111 2 ABHD11_chr7_73153813_73154099_F:ABHD11_chr7_73157180_73157738_F 2 . -1 -1 . -1 . . . . . . . chr7 73153513 73153595 10111 2 ABHD11_chr7_73152683_73154157_F 1 . -1 -1 . -1 . . . . . . . chr7 73157000 73157101 10100 1 ABHD11_chr7_73152683_73157660_F:ABHD11_chr7_73157180_73157738_F 2 . -1 -1 . -1 . . . . . . . chr7 73157149 73157589 10111 3 ABHD11_chr7_73152683_73157660_F:ABHD11_chr7_73157180_73157738_F 2 . -1 -1 . -1 . . . . . . . chr7 73869741 73869957 10101 1 GTF2IRD1_chr7_73867619_73870008_F:GTF2IRD1_chr7_73869724_73869891_F 2 . -1 -1 . -1 . . . . . . . chr7 74072862 74073031 10000 1 GTF2I_chr7_74074203_74074528_F 1 . -1 -1 . -1 . . . . . . . chr7 77427934 77428222 11100 2 PHTF2_chr7_77428722_77429286_F 1 . -1 -1 . -1 . . . . . . . chr7 80268462 80268576 10000 1 CD36_chr7_80270298_80270436_F 1 . -1 -1 . -1 . . . . . . . chr7 86274704 86274882 10000 1 GRM3_chr7_86275254_86275414_F 1 . -1 -1 . -1 . . . . . . . chr7 87936186 87936354 11111 1 STEAP4_chr7_87937179_87937443_F 1 . -1 -1 . -1 . . . . . . . chr7 89874396 89874607 11000 2 C7orf63_chr7_89875592_89875840_F 1 . -1 -1 . -1 . . . . . . . chr7 89875864 89875917 10000 1 C7orf63_chr7_89875592_89875840_F 1 . -1 -1 . -1 . . . . . . . chr7 89875864 89875982 10000 1 C7orf63_chr7_89873987_89875917_F 1 . -1 -1 . -1 . . . . . . . chr7 92157668 92157987 11111 1 C7orf64_chr7_92156983_92157235_F:PEX1_chr7_92156983_92157235_F 2 chr7 92157693 92157694 CD111119 - 5 DM NULL PEX1 Zellweger syndrome GTGCTGGGGGAGGCGGGGCGGCAGTGACTG[TG/-]GCCTTCACCAACGCTCGCGACTGCTTCCTC 21031596 chr7 92157668 92157987 11111 1 C7orf64_chr7_92156983_92157235_F:PEX1_chr7_92156983_92157235_F 2 chr7 92157745 92157746 CM111099 - 1 DM NULL PEX1 Zellweger syndrome cgaacccagagcgacgctccgggacgATGT[G/A]GGGCAGCGATCGCCTGGCGGGTGCTGGGGG 21031596 chr7 92157668 92157987 11111 1 C7orf64_chr7_92156983_92157235_F:PEX1_chr7_92156983_92157235_F 2 chr7 92157747 92157748 CM111098 - 1 DM NULL PEX1 Zellweger syndrome ggcgaacccagagcgacgctccgggacgAT[G/A]TGGGGCAGCGATCGCCTGGCGGGTGCTGGG 21031596 chr7 92157668 92157987 11111 1 C7orf64_chr7_92156983_92157235_F:PEX1_chr7_92156983_92157235_F 2 chr7 92157748 92157749 CM111097 - 1 DM NULL PEX1 Zellweger syndrome gggcgaacccagagcgacgctccgggacgA[T/C]GTGGGGCAGCGATCGCCTGGCGGGTGCTGG 21031596 chr7 92157668 92157987 11111 1 C7orf64_chr7_92156983_92157235_F:PEX1_chr7_92156983_92157235_F 2 chr7 92157802 92157803 CR053503 - 3 FP rs12386703 PEX1 Altered gene expression CCGGCTCCGACGTCCTCGGCCTGCCGGGTC[C/G]CGGGTCCTTTGCGGCGCTAGGGTGGGCGAA 16088892 chr7 92157668 92157987 11111 1 C7orf64_chr7_92156983_92157235_F:PEX1_chr7_92156983_92157235_F 2 chr7 92157886 92157887 CR053504 - 3 FP rs12386601 PEX1 Altered gene expression TGTCCCACCCACTACAGGCTTACGGCAGGA[T/C]GCGCAGCGGGGAGAGGGGGCGGGGCCGCAG 16088892 chr7 92747573 92747678 10000 1 SAMD9_chr7_92745192_92745375_F 1 . -1 -1 . -1 . . . . . . . chr7 94138669 94138735 11100 1 CASD1_chr7_94140158_94140537_F 1 . -1 -1 . -1 . . . . . . . chr7 94286081 94286231 10000 1 PEG10_chr7_94286949_94287416_F:PEG10_chr7_94286949_94287416_F 2 . -1 -1 . -1 . . . . . . . chr7 96657097 96657278 11000 1 DLX5_chr7_96653642_96657334_F:DLX5_chr7_96657052_96657215_F 2 . -1 -1 . -1 . . . . . . . chr7 97910478 97910606 11100 3 BRI3_chr7_97913424_97913987_F 1 . -1 -1 . -1 . . . . . . . chr7 97913824 97913906 11101 1 BRI3_chr7_97913424_97913987_F 1 . -1 -1 . -1 . . . . . . . chr7 97913824 97913934 11101 1 BRI3_chr7_97910478_97913906_F 1 . -1 -1 . -1 . . . . . . . chr7 98972267 98972398 10000 1 ARPC1B_chr7_98973055_98973209_F 1 . -1 -1 . -1 . . . . . . . chr7 98973056 98973232 10000 1 ARPC1B_chr7_98971797_98973333_F:ARPC1B_chr7_98973055_98973209_F 2 . -1 -1 . -1 . . . . . . . chr7 99340342 99340704 11000 4 POP7_chr7_100302940_100304171_S 1 . -1 -1 . -1 . . . . . . . chr7 99424502 99425510 11000 4 POP7_chr7_100302940_100304171_S:ZNF3_chr7_99678567_99679804_S 2 . -1 -1 . -1 . . . . . . . chr7 99601673 99601893 11011 3 LRCH4_chr7_100166200_100170381_S:POP7_chr7_100302940_100304171_S:ZKSCAN1_chr7_99612862_99614460_S 3 . -1 -1 . -1 . . . . . . . chr7 99613074 99613269 11111 1 ZKSCAN1_chr7_100143600_100144200_S:ZKSCAN1_chr7_99601673_99602000_S 2 . -1 -1 . -1 . . . . . . . chr7 99614298 99614460 11100 1 ZKSCAN1_chr7_100143600_100144200_S:ZKSCAN1_chr7_99601673_99602000_S 2 . -1 -1 . -1 . . . . . . . chr7 99678567 99678669 11000 2 ZNF3_chr7_100143600_100144200_S:ZNF3_chr7_100164520_100166200_S:ZNF3_chr7_100289130_100289380_S:ZNF3_chr7_99424357_99425800_S 4 . -1 -1 . -1 . . . . . . . chr7 99679277 99679596 11101 1 ZNF3_chr7_100143600_100144200_S:ZNF3_chr7_100164520_100166200_S:ZNF3_chr7_100289130_100289380_S:ZNF3_chr7_99424357_99425800_S 4 . -1 -1 . -1 . . . . . . . chr7 99698166 99698467 11111 2 MCM7_chr7_100143600_100144200_S:MCM7_chr7_100164520_100166200_S 2 . -1 -1 . -1 . . . . . . . chr7 99699027 99699176 11111 1 MCM7_chr7_100143600_100144200_S:MCM7_chr7_100164520_100166200_S 2 . -1 -1 . -1 . . . . . . . chr7 100143600 100144061 10111 3 MCM7_chr7_99698011_99699784_S:POP7_chr7_100302940_100304171_S:SERPINE1_chr7_100769312_100770776_S:ZKSCAN1_chr7_99612862_99614460_S:ZNF3_chr7_99678567_99679804_S 5 . -1 -1 . -1 . . . . . . . chr7 100165521 100166200 10000 4 ACHE_chr7_100486621_100488106_S:LRCH4_chr7_100166200_100170381_S:MCM7_chr7_99698011_99699784_S:SERPINE1_chr7_100769312_100770776_S:ZNF3_chr7_99678567_99679804_S 5 . -1 -1 . -1 . . . . . . . chr7 100166200 100166283 10000 4 LRCH4_chr7_100164520_100166200_S:LRCH4_chr7_100289130_100289380_S:LRCH4_chr7_99601673_99602000_S 3 . -1 -1 . -1 . . . . . . . chr7 100167161 100167421 10111 1 LRCH4_chr7_100164520_100166200_S:LRCH4_chr7_100289130_100289380_S:LRCH4_chr7_99601673_99602000_S 3 . -1 -1 . -1 . . . . . . . chr7 100303478 100303760 10111 2 POP7_chr7_100143600_100144200_S:POP7_chr7_99340340_99340878_S:POP7_chr7_99424357_99425800_S:POP7_chr7_99601673_99602000_S 4 . -1 -1 . -1 . . . . . . . chr7 100487428 100487570 10100 1 ACHE_chr7_100164520_100166200_S 1 . -1 -1 . -1 . . . . . . . chr7 100769535 100769792 10101 1 SERPINE1_chr7_100143600_100144200_S:SERPINE1_chr7_100164520_100166200_S 2 chr7 100769538 100769539 CR962707 + 3 DP rs2227631 SERPINE1 Venous thrombosis: increased risk: association AGCTGCCCCAAGTCCTAGCGGGCAGCTCGA[G/A]GAAGTGAAACTTACACGTTGGTCTCCTGTT 8987164 chr7 100770032 100770246 10111 3 SERPINE1_chr7_100143600_100144200_S:SERPINE1_chr7_100164520_100166200_S:SERPINE1_chr7_100772573_100772742_F:SERPINE1_chr7_100772917_100773243_F 4 . -1 -1 . -1 . . . . . . . chr7 101929528 101929776 10000 1 SH2B2_chr7_101927904_101929781_F:SH2B2_chr7_101929501_101929660_F:SH2B2_chr7_101929978_101930313_F:SH2B2_chr7_101931211_101931437_F 4 . -1 -1 . -1 . . . . . . . chr7 101929678 101929776 10000 1 SH2B2_chr7_101927904_101930346_F 1 . -1 -1 . -1 . . . . . . . chr7 102789506 102789890 10000 1 NAPEPLD_chr7_102790674_102790901_F 1 . -1 -1 . -1 . . . . . . . chr7 107644862 107645086 10000 1 LAMB1_chr7_107643303_107645126_F:LAMB1_chr7_107644827_107645024_F 2 . -1 -1 . -1 . . . . . . . chr7 114561894 114562147 10011 2 MDFIC_chr7_114564153_114564421_F 1 . -1 -1 . -1 . . . . . . . chr7 116311958 116312250 11101 1 MET_chr7_116314942_116315351_F 1 . -1 -1 . -1 . . . . . . . chr7 120590489 120591303 11111 3 ING3_chr7_120589568_120589730_F 1 . -1 -1 . -1 . . . . . . . chr7 121784227 121784701 11101 3 AASS_chr7_121783025_121783385_F 1 . -1 -1 . -1 . . . . . . . chr7 124402721 124403153 10001 2 GPR37_chr7_124402770_124406181_F 1 . -1 -1 . -1 . . . . . . . chr7 124402770 124403153 10001 2 GPR37_chr7_124402716_124403225_F 1 . -1 -1 . -1 . . . . . . . chr7 124405807 124406020 10000 1 GPR37_chr7_124402716_124403225_F 1 . -1 -1 . -1 . . . . . . . chr7 128094447 128094668 11011 1 C7orf68_chr7_128094531_128096384_F 1 . -1 -1 . -1 . . . . . . . chr7 128094531 128094668 11011 1 C7orf68_chr7_128094514_128094949_F 1 . -1 -1 . -1 . . . . . . . chr7 128095324 128095438 10010 1 C7orf68_chr7_128094514_128094949_F 1 . -1 -1 . -1 . . . . . . . chr7 128095798 128095908 11101 1 C7orf68_chr7_128094514_128094949_F 1 . -1 -1 . -1 . . . . . . . chr7 128576343 128576525 10000 2 IRF5_chr7_128574660_128575408_F:IRF5_chr7_128574660_128575408_F 2 . -1 -1 . -1 . . . . . . . chr7 128577896 128578076 10000 1 IRF5_chr7_128574660_128575408_F:IRF5_chr7_128574660_128575408_F 2 . -1 -1 . -1 . . . . . . . chr7 130795279 130795550 11110 1 MKLN1_chr7_130795999_130796263_F 1 . -1 -1 . -1 . . . . . . . chr7 130795964 130796251 11111 2 MKLN1_chr7_130794354_130796332_F:MKLN1_chr7_130795999_130796263_F 2 . -1 -1 . -1 . . . . . . . chr7 131012449 131012676 10010 1 MKLN1_chr7_131010342_131010498_F 1 . -1 -1 . -1 . . . . . . . chr7 134832265 134832285 11101 2 TMEM140_chr7_134835200_134835725_F:TMEM140_chr7_134836004_134836265_F:TMEM140_chr7_134836328_134836759_F 3 . -1 -1 . -1 . . . . . . . chr7 134832642 134832930 11111 3 TMEM140_chr7_134835200_134835725_F:TMEM140_chr7_134836004_134836265_F:TMEM140_chr7_134836328_134836759_F 3 . -1 -1 . -1 . . . . . . . chr7 134833284 134833500 11101 3 TMEM140_chr7_134835200_134835725_F:TMEM140_chr7_134836004_134836265_F:TMEM140_chr7_134836328_134836759_F 3 . -1 -1 . -1 . . . . . . . chr7 134834188 134834355 10000 1 TMEM140_chr7_134835200_134835725_F:TMEM140_chr7_134836004_134836265_F:TMEM140_chr7_134836328_134836759_F 3 . -1 -1 . -1 . . . . . . . chr7 134834764 134835663 11111 3 TMEM140_chr7_134835200_134835725_F 1 . -1 -1 . -1 . . . . . . . chr7 134834764 134835775 11111 3 TMEM140_chr7_134836004_134836265_F:TMEM140_chr7_134836328_134836759_F 2 . -1 -1 . -1 . . . . . . . chr7 134834900 134835775 11111 3 TMEM140_chr7_134832265_134835663_F 1 . -1 -1 . -1 . . . . . . . chr7 134835704 134835775 11111 3 TMEM140_chr7_134832265_134836335_F 1 . -1 -1 . -1 . . . . . . . chr7 137685899 137686101 11101 1 CREB3L2_chr7_137685065_137685809_F:CREB3L2_chr7_137685237_137687347_F 2 . -1 -1 . -1 . . . . . . . chr7 137687003 137687197 11000 1 CREB3L2_chr7_137685065_137685809_F 1 . -1 -1 . -1 . . . . . . . chr7 138794066 138794657 11111 3 ZC3HAV1_chr7_138791748_138791993_F:ZC3HAV1_chr7_138796651_138797059_F 2 . -1 -1 . -1 . . . . . . . chr7 138915805 138916051 11111 2 UBN2_chr7_138917056_138917428_F 1 . -1 -1 . -1 . . . . . . . chr7 138917002 138917220 11100 1 UBN2_chr7_138915730_138917443_F:UBN2_chr7_138917056_138917428_F 2 . -1 -1 . -1 . . . . . . . chr7 139024926 139025471 11111 3 23643_chr7_138037104_138038425_S:23643_chr7_138080642_138082117_S 2 . -1 -1 . -1 . . . . . . . chr7 139025892 139026078 11111 1 23643_chr7_138037104_138038425_S:23643_chr7_138080642_138082117_S 2 . -1 -1 . -1 . . . . . . . chr7 139026425 139026579 11100 1 23643_chr7_138037104_138038425_S:23643_chr7_138080642_138082117_S 2 . -1 -1 . -1 . . . . . . . chr7 139440400 139440699 11001 3 KDM7A_chr7_139875062_139875996_S:TBXAS1_chr7_139475704_139475902_S 2 . -1 -1 . -1 . . . . . . . chr7 139875240 139875554 11110 3 KDM7A_chr7_139440400_139440699_S 1 . -1 -1 . -1 . . . . . . . chr7 142553716 142553960 11111 1 EPHB6_chr7_142554207_142554559_F:EPHB6_chr7_142554592_142555033_F 2 . -1 -1 . -1 . . . . . . . chr7 142553907 142553960 11111 1 EPHB6_chr7_142552291_142554584_F 1 . -1 -1 . -1 . . . . . . . chr7 143599006 143599458 11000 1 FAM115A_chr7_143602007_143602175_F:FAM115A_chr7_143602007_143602175_F 2 . -1 -1 . -1 . . . . . . . chr7 143601924 143602072 11000 1 FAM115A_chr7_143598671_143602292_F:FAM115A_chr7_143598777_143602292_F:FAM115A_chr7_143602007_143602175_F:FAM115A_chr7_143602007_143602175_F 4 . -1 -1 . -1 . . . . . . . chr7 148788942 148788957 00000 1 ZNF786_chr7_148788628_148788884_F 1 . -1 -1 . -1 . . . . . . . chr7 148788942 148789114 00000 1 ZNF786_chr7_148787368_148788957_F 1 . -1 -1 . -1 . . . . . . . chr7 149191936 149192248 10000 2 ZNF746_chr7_149191904_149195398_F:ZNF746_chr7_149191913_149192296_F 2 . -1 -1 . -1 . . . . . . . chr7 150385151 150385273 10000 1 GIMAP2_chr7_150382293_150385496_F:GIMAP2_chr7_150385091_150385499_F 2 . -1 -1 . -1 . . . . . . . chr7 150415280 150415407 10000 1 GIMAP1_chr7_150413144_150415259_F 1 . -1 -1 . -1 . . . . . . . chr7 151038819 151038963 11101 1 NUB1_chr7_151039447_151039627_F 1 . -1 -1 . -1 . . . . . . . chr7 151039445 151039649 11111 1 NUB1_chr7_151038346_151039738_F:NUB1_chr7_151039447_151039627_F 2 . -1 -1 . -1 . . . . . . . chr7 155088338 155088569 10100 2 INSIG1_chr7_155085901_155086048_F 1 . -1 -1 . -1 . . . . . . . chr7 155089153 155089269 10111 1 INSIG1_chr7_155085901_155086048_F 1 . -1 -1 . -1 . . . . . . . chr7 158497535 158497809 11100 1 NCAPG2_chr7_158493510_158493807_F 1 . -1 -1 . -1 . . . . . . . chr8 11141819 11142065 11101 1 MTMR9_chr8_11710200_11712108_S 1 . -1 -1 . -1 . . . . . . . chr8 11324204 11324402 11100 1 FAM167A_chr8_11322358_11322501_F:FAM167A_chr8_11322764_11323135_F 2 . -1 -1 . -1 . . . . . . . chr8 11560495 11560847 11101 3 GATA4_chr8_11558749_11558994_F:GATA4_chr8_11560574_11562217_F 2 chr8 11560787 11560788 CR123492 + 3 DM rs372004083 GATA4 Ventricular septal defect GGTAATCGATGGGTTATTTTTACGCGGTAA[T/C]AGGGCCCTGTGATTGCTCTATTAACCTTTA 22500510 chr8 11560574 11560847 11101 3 GATA4_chr8_11560575_11560973_F 1 chr8 11560787 11560788 CR123492 + 3 DM rs372004083 GATA4 Ventricular septal defect GGTAATCGATGGGTTATTTTTACGCGGTAA[T/C]AGGGCCCTGTGATTGCTCTATTAACCTTTA 22500510 chr8 11561443 11561757 11101 1 GATA4_chr8_11558749_11558994_F:GATA4_chr8_11560575_11560973_F:GATA4_chr8_11562739_11563084_F 3 . -1 -1 . -1 . . . . . . . chr8 11627118 11627283 10000 1 NEIL2_chr8_11710200_11712108_S 1 chr8 11627261 11627262 CR085800 + 3 FP rs8191518 NEIL2 Reduced expression CCAGCTGGAGCGGCTGTGCGGGCTGCGTAG[C/G]GGTGCTGGGTCGGGCCGACGTGCCACCCAC 18651651 chr8 11659793 11659991 11101 2 FDFT1_chr8_11710200_11712108_S 1 . -1 -1 . -1 . . . . . . . chr8 11665644 11665854 11101 1 FDFT1_chr8_11710200_11712108_S 1 . -1 -1 . -1 . . . . . . . chr8 11666406 11666524 11100 2 FDFT1_chr8_11710200_11712108_S 1 . -1 -1 . -1 . . . . . . . chr8 11668200 11668364 10000 1 FDFT1_chr8_11667775_11668004_S 1 . -1 -1 . -1 . . . . . . . chr8 11710657 11711002 11000 3 CTSB_chr8_11719800_11720678_S:CTSB_chr8_11720770_11720871_S:CTSB_chr8_11721336_11721430_S:CTSB_chr8_11721646_11721884_S:CTSB_chr8_11723758_11726375_S:FDFT1_chr8_11659470_11660954_S:FDFT1_chr8_11665620_11666524_S:FDFT1_chr8_11667775_11668004_S:LONRF1_chr8_12611311_12613611_S:MTMR9_chr8_11141729_11142780_S:NEIL2_chr8_11626869_11627548_S 11 chr8 11710888 11710889 CM066015 - 1 DP rs12338 CTSB Tropical calcific pancreatitis: association with AATGCCCGGAGCAGGCCCTCTTTCCATCCC[C/G]TGTCGGATGAGCTGGTCAACTATGTCAACA 16492714 chr8 11719999 11720443 11000 2 CTSB_chr8_11710200_11712108_S 1 . -1 -1 . -1 . . . . . . . chr8 11726241 11726375 10000 1 CTSB_chr8_11710200_11712108_S 1 . -1 -1 . -1 . . . . . . . chr8 12611520 12611747 11111 2 LONRF1_chr8_11710200_11712108_S 1 . -1 -1 . -1 . . . . . . . chr8 12615062 12615354 10101 2 LONRF1_chr8_12615021_12615285_F 1 . -1 -1 . -1 . . . . . . . chr8 12615062 12615376 10101 2 LONRF1_chr8_12612491_12615354_F 1 . -1 -1 . -1 . . . . . . . chr8 12991063 12991309 11010 1 DLC1_chr8_12988209_12988727_F 1 . -1 -1 . -1 . . . . . . . chr8 13132808 13133283 11111 3 DLC1_chr8_13211092_13211979_S 1 . -1 -1 . -1 . . . . . . . chr8 13134071 13134247 11101 3 DLC1_chr8_13211092_13211979_S 1 . -1 -1 . -1 . . . . . . . chr8 13211398 13211763 10000 4 DLC1_chr8_13132631_13134417_S 1 . -1 -1 . -1 . . . . . . . chr8 18874863 18874882 11010 2 PSD3_chr8_18870695_18874652_F 1 . -1 -1 . -1 . . . . . . . chr8 20054723 20054922 11101 1 ATP6V1B2_chr8_20055803_20056436_F:ATP6V1B2_chr8_20058362_20058772_F 2 . -1 -1 . -1 . . . . . . . chr8 20058318 20058525 11101 2 ATP6V1B2_chr8_20054203_20058768_F:ATP6V1B2_chr8_20058362_20058772_F 2 . -1 -1 . -1 . . . . . . . chr8 22222786 22223263 10100 4 SLC39A14_chr8_22222911_22225262_F:SLC39A14_chr8_22222911_22225550_F 2 . -1 -1 . -1 . . . . . . . chr8 22222911 22223263 10100 4 SLC39A14_chr8_22222955_22223268_F:SLC39A14_chr8_22222955_22223268_F 2 . -1 -1 . -1 . . . . . . . chr8 22224446 22225018 10100 1 SLC39A14_chr8_22222955_22223268_F:SLC39A14_chr8_22222955_22223268_F:SLC39A14_chr8_22227261_22227593_F 3 . -1 -1 . -1 . . . . . . . chr8 22224549 22225018 10100 1 SLC39A14_chr8_22227261_22227593_F 1 . -1 -1 . -1 . . . . . . . chr8 22225454 22225550 10001 2 SLC39A14_chr8_22222955_22223268_F 1 . -1 -1 . -1 . . . . . . . chr8 22225454 22225614 10001 2 SLC39A14_chr8_22227261_22227593_F:SLC39A14_chr8_22227261_22227593_F 2 . -1 -1 . -1 . . . . . . . chr8 22227392 22227628 10101 2 SLC39A14_chr8_22227261_22227593_F:SLC39A14_chr8_22227261_22227593_F 2 . -1 -1 . -1 . . . . . . . chr8 22227392 22227655 10101 2 SLC39A14_chr8_22224261_22227628_F:SLC39A14_chr8_22224549_22227628_F 2 . -1 -1 . -1 . . . . . . . chr8 22298424 22298625 11101 1 PPP3CC_chr8_22300361_22300587_F:PPP3CC_chr8_22301187_22301546_F 2 . -1 -1 . -1 . . . . . . . chr8 22408878 22408988 10101 1 SORBS3_chr8_22410101_22410594_F 1 . -1 -1 . -1 . . . . . . . chr8 22853225 22853335 10000 1 RHOBTB2_chr8_22854119_22854395_F 1 . -1 -1 . -1 . . . . . . . chr8 24151401 24151638 11000 1 ADAM28_chr8_24152439_24152589_F:ADAM28_chr8_24155243_24155623_F 2 . -1 -1 . -1 . . . . . . . chr8 26718526 26718688 10000 1 ADRA1A_chr8_26718506_26723422_F:ADRA1A_chr8_26718570_26718842_F 2 . -1 -1 . -1 . . . . . . . chr8 26719628 26719743 10000 1 ADRA1A_chr8_26718570_26718842_F 1 . -1 -1 . -1 . . . . . . . chr8 26720607 26720785 10000 1 ADRA1A_chr8_26718570_26718842_F 1 . -1 -1 . -1 . . . . . . . chr8 26722018 26722201 11000 1 ADRA1A_chr8_26718570_26718842_F 1 . -1 -1 . -1 . . . . . . . chr8 28351571 28351769 10000 1 FZD3_chr8_28352811_28353080_F 1 . -1 -1 . -1 . . . . . . . chr8 28558936 28559046 11100 1 EXTL3_chr8_28562756_28562912_F 1 . -1 -1 . -1 . . . . . . . chr8 28561957 28562117 11100 1 EXTL3_chr8_28562756_28562912_F 1 . -1 -1 . -1 . . . . . . . chr8 29814137 29814305 11000 2 DCTN6_chr8_30015159_30015462_S:PPP2CB_chr8_30669725_30670541_S 2 . -1 -1 . -1 . . . . . . . chr8 30015159 30015260 10000 1 DCTN6_chr8_29813780_29815189_S 1 . -1 -1 . -1 . . . . . . . chr8 30580464 30580610 11101 1 PPP2CB_chr8_30669725_30670541_S 1 . -1 -1 . -1 . . . . . . . chr8 30660902 30661061 10000 1 PPP2CB_chr8_30669725_30670541_S 1 . -1 -1 . -1 . . . . . . . chr8 37593998 37594206 10111 1 ERLIN2_chr8_38414872_38415170_S:ERLIN2_chr8_38415291_38416033_S 2 . -1 -1 . -1 . . . . . . . chr8 37757280 37757491 10000 1 RAB11FIP1_chr8_37757888_37758317_F:RAB11FIP1_chr8_37760968_37761285_F 2 . -1 -1 . -1 . . . . . . . chr8 38243844 38244018 11111 1 LETM2_chr8_38242599_38242872_F:LETM2_chr8_38242599_38242872_F 2 . -1 -1 . -1 . . . . . . . chr8 38385719 38385854 10000 1 C8orf86_chr8_38384926_38385302_F 1 . -1 -1 . -1 . . . . . . . chr8 39912055 39912793 11110 4 C8orf4_chr8_40010511_40011725_S 1 . -1 -1 . -1 . . . . . . . chr8 40010511 40011115 11000 4 C8orf4_chr8_39911995_39913019_S 1 . -1 -1 . -1 . . . . . . . chr8 41435478 41435768 10000 1 AGPAT6_chr8_41436789_41436966_F 1 . -1 -1 . -1 . . . . . . . chr8 41909503 41910005 11111 2 MYST3_chr8_41908079_41908836_F 1 . -1 -1 . -1 . . . . . . . chr8 42334341 42334773 10000 4 POMK_chr8_42948022_42949200_S 1 . -1 -1 . -1 . . . . . . . chr8 42750605 42750734 10000 1 HOOK3_chr8_42748560_42748749_F 1 . -1 -1 . -1 . . . . . . . chr8 49833950 49834118 11000 1 SNAI2_chr8_49835974_49836286_F 1 . -1 -1 . -1 . . . . . . . chr8 49834458 49834633 11000 1 SNAI2_chr8_49835974_49836286_F 1 . -1 -1 . -1 . . . . . . . chr8 52810117 52810187 11000 1 PCMTD1_chr8_52809489_52812235_F 1 . -1 -1 . -1 . . . . . . . chr8 52810117 52810252 11000 1 PCMTD1_chr8_52809491_52809887_F 1 . -1 -1 . -1 . . . . . . . chr8 52811600 52811867 11000 2 PCMTD1_chr8_52809491_52809887_F 1 . -1 -1 . -1 . . . . . . . chr8 53625713 53625966 11000 2 RB1CC1_chr8_53625726_53627526_F 1 . -1 -1 . -1 . . . . . . . chr8 53625726 53625966 11000 2 RB1CC1_chr8_53625473_53626379_F 1 . -1 -1 . -1 . . . . . . . chr8 53626921 53627476 11000 1 RB1CC1_chr8_53625473_53626379_F 1 . -1 -1 . -1 . . . . . . . chr8 56792292 56792405 11101 2 LYN_chr8_56791431_56791783_F:LYN_chr8_56796346_56796794_F 2 . -1 -1 . -1 . . . . . . . chr8 56792999 56793207 10100 2 LYN_chr8_56796346_56796794_F 1 . -1 -1 . -1 . . . . . . . chr8 56794215 56794431 10101 1 LYN_chr8_56796346_56796794_F 1 . -1 -1 . -1 . . . . . . . chr8 62626084 62626340 11000 1 ASPH_chr8_62624516_62625412_F 1 . -1 -1 . -1 . . . . . . . chr8 62627027 62627160 11000 1 ASPH_chr8_62624516_62625412_F 1 . -1 -1 . -1 . . . . . . . chr8 62627236 62627682 11000 2 ASPH_chr8_62624516_62625412_F 1 . -1 -1 . -1 . . . . . . . chr8 64081002 64081225 10000 1 YTHDF3_chr8_64082499_64082747_F 1 . -1 -1 . -1 . . . . . . . chr8 66754253 66754469 11101 2 PDE7A_chr8_66749896_66750187_F 1 . -1 -1 . -1 . . . . . . . chr8 67525461 67525575 11000 1 MYBL1_chr8_67522221_67522599_F 1 . -1 -1 . -1 . . . . . . . chr8 67624579 67624845 10100 1 SGK3_chr8_67626224_67626609_F 1 . -1 -1 . -1 . . . . . . . chr8 67626164 67626287 10000 1 SGK3_chr8_67624152_67626617_F:SGK3_chr8_67626224_67626609_F 2 . -1 -1 . -1 . . . . . . . chr8 77590662 77590770 10101 1 ZFHX4_chr8_77590074_77594015_F 1 . -1 -1 . -1 . . . . . . . chr8 77590662 77590887 10101 1 ZFHX4_chr8_77590079_77590470_F 1 . -1 -1 . -1 . . . . . . . chr8 77592797 77592971 11101 2 ZFHX4_chr8_77590079_77590470_F 1 . -1 -1 . -1 . . . . . . . chr8 77593334 77593515 11101 1 ZFHX4_chr8_77590079_77590470_F 1 . -1 -1 . -1 . . . . . . . chr8 77593351 77594015 11101 2 ZFHX4_chr8_77590079_77590470_F 1 . -1 -1 . -1 . . . . . . . chr8 79578222 79578369 11101 1 FAM164A_chr8_79578942_79579038_F 1 . -1 -1 . -1 . . . . . . . chr8 80875781 80875986 11000 1 TPD52_chr8_81143285_81143407_S 1 . -1 -1 . -1 . . . . . . . chr8 80876291 80876527 11000 2 TPD52_chr8_81143285_81143407_S 1 . -1 -1 . -1 . . . . . . . chr8 81784286 81784402 10000 1 ZNF704_chr8_81782792_81783006_F 1 . -1 -1 . -1 . . . . . . . chr8 81784800 81785047 11100 1 ZNF704_chr8_81782792_81783006_F 1 . -1 -1 . -1 . . . . . . . chr8 86089247 86089370 10000 1 E2F5_chr8_86090980_86091058_F 1 . -1 -1 . -1 . . . . . . . chr8 86089822 86090419 11000 2 E2F5_chr8_86090980_86091058_F 1 . -1 -1 . -1 . . . . . . . chr8 95271272 95271426 10000 1 GEM_chr8_95271328_95275047_F 1 . -1 -1 . -1 . . . . . . . chr8 95271328 95271426 10000 1 GEM_chr8_95271404_95271652_F 1 . -1 -1 . -1 . . . . . . . chr8 96145577 96146280 11100 3 PLEKHF2_chr8_96146998_96147210_F 1 . -1 -1 . -1 . . . . . . . chr8 99956454 99956588 11111 1 OSR2_chr8_99953302_99954000_F 1 . -1 -1 . -1 . . . . . . . chr8 103251011 103251275 11110 2 RRM2B_chr8_103249003_103249378_F:RRM2B_chr8_103249003_103249378_F 2 chr8 103251055 103251056 CS1211103 - 2 DM NULL RRM2B Progressive external ophthalmoplegia GCCGGAAGCGGCCGGGCTGGATCAGGATGA[G/A]gtaaatgttgctgttgcgtcttccccctca 23107649 chr8 103251508 103251559 11110 2 RRM2B_chr8_103249003_103249378_F 1 . -1 -1 . -1 . . . . . . . chr8 103251508 103251744 11110 2 RRM2B_chr8_103249003_103249378_F 1 . -1 -1 . -1 . . . . . . . chr8 103665716 103666430 11010 3 KLF10_chr8_103669513_103669869_F:KLF10_chr8_103669922_103670289_F 2 . -1 -1 . -1 . . . . . . . chr8 103667873 103668446 11010 1 KLF10_chr8_103669513_103669869_F:KLF10_chr8_103669513_103669869_F:KLF10_chr8_103669922_103670289_F:KLF10_chr8_103669922_103670289_F 4 . -1 -1 . -1 . . . . . . . chr8 105601393 105601675 11111 2 LRP12_chr8_105598029_105598284_F 1 . -1 -1 . -1 . . . . . . . chr8 108510331 108510448 10111 1 ANGPT1_chr8_108508143_108508403_F 1 . -1 -1 . -1 . . . . . . . chr8 117884897 117885065 10000 1 RAD21_chr8_117883999_117884137_F 1 . -1 -1 . -1 . . . . . . . chr8 117886981 117887378 10000 3 RAD21_chr8_117883999_117884137_F:RAD21_chr8_117889939_117890223_F:RAD21_chr8_117891197_117891487_F 3 . -1 -1 . -1 . . . . . . . chr8 120220413 120220570 11100 2 MAL2_chr8_120217398_120217670_F 1 . -1 -1 . -1 . . . . . . . chr8 121774693 121774918 11010 2 SNTB1_chr8_121821790_121825151_S 1 . -1 -1 . -1 . . . . . . . chr8 121820940 121821089 11000 1 SNTB1_chr8_121820910_121824809_F:SNTB1_chr8_121821026_121821194_F 2 . -1 -1 . -1 . . . . . . . chr8 121821783 121822272 11111 3 SNTB1_chr8_121821026_121821194_F 1 . -1 -1 . -1 . . . . . . . chr8 121821790 121822272 11111 3 SNTB1_chr8_121774260_121774918_S:SNTB1_chr8_121787200_121788764_S:SNTB1_chr8_121851247_121852305_S:SNTB1_chr8_121880800_121881030_S:SNTB1_chr8_121881122_121881400_S 5 . -1 -1 . -1 . . . . . . . chr8 121822996 121823119 11000 1 SNTB1_chr8_121774260_121774918_S:SNTB1_chr8_121787200_121788764_S:SNTB1_chr8_121821026_121821194_F:SNTB1_chr8_121851247_121852305_S:SNTB1_chr8_121880800_121881030_S:SNTB1_chr8_121881122_121881400_S 6 . -1 -1 . -1 . . . . . . . chr8 121824225 121824470 11000 2 SNTB1_chr8_121774260_121774918_S:SNTB1_chr8_121787200_121788764_S:SNTB1_chr8_121821026_121821194_F:SNTB1_chr8_121851247_121852305_S:SNTB1_chr8_121880800_121881030_S:SNTB1_chr8_121881122_121881400_S 6 . -1 -1 . -1 . . . . . . . chr8 121851375 121851825 11010 4 SNTB1_chr8_121821790_121825151_S 1 . -1 -1 . -1 . . . . . . . chr8 121880981 121881030 10010 2 SNTB1_chr8_121821790_121825151_S 1 . -1 -1 . -1 . . . . . . . chr8 121881122 121881367 10010 2 SNTB1_chr8_121821790_121825151_S 1 . -1 -1 . -1 . . . . . . . chr8 123793400 123793575 11110 1 ZHX2_chr8_123795111_123795992_F 1 . -1 -1 . -1 . . . . . . . chr8 123794475 123794638 11101 1 ZHX2_chr8_123795111_123795992_F 1 . -1 -1 . -1 . . . . . . . chr8 124407813 124408086 11100 2 ATAD2_chr8_124407420_124409205_F 1 . -1 -1 . -1 . . . . . . . chr8 124407813 124408272 11100 2 ATAD2_chr8_124407455_124407786_F 1 . -1 -1 . -1 . . . . . . . chr8 124408967 124409168 11110 1 ATAD2_chr8_124407455_124407786_F 1 . -1 -1 . -1 . . . . . . . chr8 124553465 124553715 11010 3 FBXO32_chr8_124549741_124550229_F:FBXO32_chr8_124552481_124552488_F 2 . -1 -1 . -1 . . . . . . . chr8 125550697 125550810 10000 1 NDUFB9_chr8_126137849_126138312_S:NDUFB9_chr8_126346036_126347025_S 2 . -1 -1 . -1 . . . . . . . chr8 125551249 125551467 10000 1 NDUFB9_chr8_126137849_126138312_S:NDUFB9_chr8_126346036_126347025_S 2 . -1 -1 . -1 . . . . . . . chr8 125642109 125642296 11100 2 TRIB1_chr8_126441327_126444529_S 1 . -1 -1 . -1 . . . . . . . chr8 125985436 125985659 10010 1 ZNF572_chr8_125984707_125984742_F 1 . -1 -1 . -1 . . . . . . . chr8 126137919 126138218 10000 3 NDUFB9_chr8_125550655_125551744_S:TRIB1_chr8_126441327_126444529_S 2 . -1 -1 . -1 . . . . . . . chr8 126442057 126442609 11010 4 TRIB1_chr8_125641923_125642296_S:TRIB1_chr8_125681400_125682600_S:TRIB1_chr8_126137849_126138312_S:TRIB1_chr8_126346036_126347025_S:TRIB1_chr8_126441416_126441734_F:TRIB1_chr8_126656660_126656911_S 6 . -1 -1 . -1 . . . . . . . chr8 126656836 126656911 10100 1 TRIB1_chr8_126441327_126444529_S 1 . -1 -1 . -1 . . . . . . . chr8 128746273 128746560 11110 2 MYC_chr8_129567426_129569834_S 1 . -1 -1 . -1 . . . . . . . chr8 129179691 129179954 10000 3 MYC_chr8_128747134_128751373_S 1 . -1 -1 . -1 . . . . . . . chr8 129180621 129180903 11000 2 MYC_chr8_128747134_128751373_S 1 . -1 -1 . -1 . . . . . . . chr8 129567426 129567884 11111 4 MYC_chr8_128746198_128746666_S:MYC_chr8_128747134_128751373_S 2 . -1 -1 . -1 . . . . . . . chr8 129568733 129569202 11111 4 MYC_chr8_128746198_128746666_S:MYC_chr8_128747134_128751373_S 2 . -1 -1 . -1 . . . . . . . chr8 134582565 134582679 10000 1 ST3GAL1_chr8_134580779_134581429_F 1 . -1 -1 . -1 . . . . . . . chr8 134582864 134583127 10010 2 ST3GAL1_chr8_134580779_134581429_F 1 . -1 -1 . -1 . . . . . . . chr8 134584024 134584468 10000 2 ST3GAL1_chr8_134580779_134581429_F 1 . -1 -1 . -1 . . . . . . . chr8 136469290 136469472 10100 1 KHDRBS3_chr8_136467013_136467451_F 1 . -1 -1 . -1 . . . . . . . chr8 141983290 141983536 11000 3 AGO2_chr8_141645902_141646418_S 1 . -1 -1 . -1 . . . . . . . chr8 142140003 142140199 11010 1 DENND3_chr8_142141816_142141930_F 1 . -1 -1 . -1 . . . . . . . chr8 142238536 142238912 11000 3 SLC45A4_chr8_142237099_142237665_F 1 . -1 -1 . -1 . . . . . . . chr8 143808449 143809060 11000 2 C8orf55_chr8_143809767_143809928_F 1 . -1 -1 . -1 . . . . . . . chr8 145016163 145016271 11000 1 PLEC_chr8_145013257_145016070_F:PLEC_chr8_145015669_145017192_F 2 . -1 -1 . -1 . . . . . . . chr8 145016163 145016340 11000 1 PLEC_chr8_145015768_145015971_F 1 . -1 -1 . -1 . . . . . . . chr8 145016744 145016897 11011 1 PLEC_chr8_145015768_145015971_F 1 . -1 -1 . -1 . . . . . . . chr8 145082499 145082894 10000 1 SPATC1_chr8_145082472_145087082_F:SPATC1_chr8_145082585_145082760_F 2 . -1 -1 . -1 . . . . . . . chr9 706972 707229 11100 3 KANK1_chr9_708345_708423_F:KANK1_chr9_708443_708758_F 2 . -1 -1 . -1 . . . . . . . chr9 708629 708723 10010 1 KANK1_chr9_706395_708585_F 1 . -1 -1 . -1 . . . . . . . chr9 708629 708801 10010 1 KANK1_chr9_708443_708758_F 1 . -1 -1 . -1 . . . . . . . chr9 708629 708803 10010 1 KANK1_chr9_706395_708801_F 1 . -1 -1 . -1 . . . . . . . chr9 2015022 2015213 11110 2 SMARCA2_chr9_2018040_2018611_F 1 . -1 -1 . -1 . . . . . . . chr9 2015713 2015873 11111 1 SMARCA2_chr9_2018040_2018611_F 1 . -1 -1 . -1 . . . . . . . chr9 2017840 2018403 11111 4 SMARCA2_chr9_2014841_2018526_F:SMARCA2_chr9_2018040_2018611_F 2 . -1 -1 . -1 . . . . . . . chr9 4297960 4298189 11111 2 GLIS3_chr9_4296901_4297617_F 1 . -1 -1 . -1 . . . . . . . chr9 5450330 5450616 11110 2 CD274_chr9_5451547_5451984_F:CD274_chr9_5452329_5452752_F 2 . -1 -1 . -1 . . . . . . . chr9 5627222 5627340 11010 1 KIAA1432_chr9_5627107_5627559_F:KIAA1432_chr9_5627133_5629619_F 2 . -1 -1 . -1 . . . . . . . chr9 5628990 5629140 11000 1 KIAA1432_chr9_5627107_5627559_F 1 . -1 -1 . -1 . . . . . . . chr9 12776108 12776429 11111 3 LURAP1L_chr9_12784077_12785734_S 1 . -1 -1 . -1 . . . . . . . chr9 12784467 12784812 11001 3 LURAP1L_chr9_12775424_12776880_S 1 . -1 -1 . -1 . . . . . . . chr9 14313566 14313716 10111 1 NFIB_chr9_14316018_14316353_F 1 . -1 -1 . -1 . . . . . . . chr9 14314512 14314733 10110 2 NFIB_chr9_14316018_14316353_F 1 . -1 -1 . -1 . . . . . . . chr9 14315342 14315511 10110 1 NFIB_chr9_14316018_14316353_F 1 . -1 -1 . -1 . . . . . . . chr9 14316037 14316252 11101 1 NFIB_chr9_14313544_14316386_F:NFIB_chr9_14316018_14316353_F 2 . -1 -1 . -1 . . . . . . . chr9 19127434 19127654 10111 1 PLIN2_chr9_19124098_19124309_F 1 . -1 -1 . -1 . . . . . . . chr9 32523962 32524417 11010 3 DDX58_chr9_32524201_32526822_F 1 . -1 -1 . -1 . . . . . . . chr9 32524201 32524417 11010 3 DDX58_chr9_32524178_32524624_F 1 . -1 -1 . -1 . . . . . . . chr9 32525301 32525463 10111 1 DDX58_chr9_32524178_32524624_F 1 . -1 -1 . -1 . . . . . . . chr9 32526212 32526690 11101 3 DDX58_chr9_32524178_32524624_F 1 . -1 -1 . -1 . . . . . . . chr9 33165468 33166113 11111 3 B4GALT1_chr9_33165554_33167856_F 1 . -1 -1 . -1 . . . . . . . chr9 33165554 33166113 11111 3 B4GALT1_chr9_33165457_33166051_F 1 . -1 -1 . -1 . . . . . . . chr9 33167072 33167643 11101 1 B4GALT1_chr9_33165457_33166051_F 1 . -1 -1 . -1 . . . . . . . chr9 33445246 33445589 10101 2 AQP3_chr9_33445364_33448131_F 1 . -1 -1 . -1 . . . . . . . chr9 33445364 33445589 10101 2 AQP3_chr9_33445339_33445789_F 1 . -1 -1 . -1 . . . . . . . chr9 33446770 33447040 10000 4 AQP3_chr9_33446305_33448131_F 1 . -1 -1 . -1 . . . . . . . chr9 33446770 33447267 10000 4 AQP3_chr9_33445339_33445789_F:AQP3_chr9_33446270_33446740_F 2 . -1 -1 . -1 . . . . . . . chr9 33816523 33816739 10000 1 UBE2R2_chr9_33814905_33815171_F 1 . -1 -1 . -1 . . . . . . . chr9 33816837 33817163 10000 1 UBE2R2_chr9_33814905_33815171_F 1 . -1 -1 . -1 . . . . . . . chr9 34178919 34179050 10111 1 UBAP1_chr9_34179799_34180083_F 1 . -1 -1 . -1 . . . . . . . chr9 34179880 34180142 10101 2 UBAP1_chr9_34179799_34180083_F 1 . -1 -1 . -1 . . . . . . . chr9 34179880 34180383 10101 2 UBAP1_chr9_34178502_34180142_F 1 . -1 -1 . -1 . . . . . . . chr9 34989097 34989513 10101 2 DNAJB5_chr9_34986458_34986973_F 1 . -1 -1 . -1 . . . . . . . chr9 35115893 35116373 11111 1 KIAA1539_chr9_35114116_35114547_F 1 . -1 -1 . -1 . . . . . . . chr9 35489506 35489537 11100 1 RUSC2_chr9_35491656_35492052_F:RUSC2_chr9_35492185_35492605_F 2 . -1 -1 . -1 . . . . . . . chr9 35489914 35490469 11100 1 RUSC2_chr9_35491656_35492052_F:RUSC2_chr9_35492185_35492605_F 2 . -1 -1 . -1 . . . . . . . chr9 35511005 35511326 11111 3 FAM214B_chr9_35116937_35117148_S 1 . -1 -1 . -1 . . . . . . . chr9 35511573 35511624 10000 1 FAM214B_chr9_35116937_35117148_S 1 . -1 -1 . -1 . . . . . . . chr9 35906049 35906268 11000 3 HRCT1_chr9_35907858_35908401_F 1 . -1 -1 . -1 . . . . . . . chr9 35907092 35907263 10000 1 HRCT1_chr9_35907858_35908401_F 1 . -1 -1 . -1 . . . . . . . chr9 36037637 36037784 10000 1 RECK_chr9_36039800_36039974_F 1 . -1 -1 . -1 . . . . . . . chr9 37037016 37037027 10000 1 PAX5_chr9_37036641_37037011_F 1 . -1 -1 . -1 . . . . . . . chr9 37037016 37037126 10000 1 PAX5_chr9_37033975_37037027_F 1 . -1 -1 . -1 . . . . . . . chr9 37079511 37079989 11110 1 ENSG00000232920_chr9_38047800_38048662_S 1 . -1 -1 . -1 . . . . . . . chr9 37592509 37592746 11111 2 TOMM5_chr9_38023800_38024200_S:TOMM5_chr9_38047800_38048662_S 2 . -1 -1 . -1 . . . . . . . chr9 37800666 37800878 11100 1 EXOSC3_chr9_38047800_38048662_S 1 . -1 -1 . -1 . . . . . . . chr9 38024004 38024200 10100 3 TOMM5_chr9_37591983_37592808_S 1 . -1 -1 . -1 . . . . . . . chr9 38047800 38048042 11001 4 ENSG00000232920_chr9_37079337_37080599_S:EXOSC3_chr9_37800416_37801674_S:TOMM5_chr9_37591983_37592808_S 3 . -1 -1 . -1 . . . . . . . chr9 38048588 38048662 11000 1 ENSG00000232920_chr9_37079337_37080599_S:EXOSC3_chr9_37800416_37801674_S:TOMM5_chr9_37591983_37592808_S 3 . -1 -1 . -1 . . . . . . . chr9 38069707 38069710 11110 2 SHB_chr9_38066980_38067628_F 1 . -1 -1 . -1 . . . . . . . chr9 38388389 38388877 11010 3 ALDH1B1_chr9_38388257_38393161_F 1 . -1 -1 . -1 . . . . . . . chr9 38388389 38389184 11010 3 ALDH1B1_chr9_38388338_38388577_F 1 . -1 -1 . -1 . . . . . . . chr9 38389514 38389658 11111 1 ALDH1B1_chr9_38388338_38388577_F 1 . -1 -1 . -1 . . . . . . . chr9 38392682 38392799 11100 1 ALDH1B1_chr9_38388338_38388577_F 1 . -1 -1 . -1 . . . . . . . chr9 71394861 71394971 10100 1 FAM122A_chr9_71393578_71393897_F 1 . -1 -1 . -1 . . . . . . . chr9 71395374 71395464 10111 1 FAM122A_chr9_71393578_71393897_F 1 . -1 -1 . -1 . . . . . . . chr9 71788712 71789192 11100 1 TJP2_chr9_71789916_71790363_F:TJP2_chr9_71791709_71792066_F 2 . -1 -1 . -1 . . . . . . . chr9 71791848 71792036 11000 1 TJP2_chr9_71788470_71792088_F:TJP2_chr9_71791709_71792066_F 2 . -1 -1 . -1 . . . . . . . chr9 73028813 73029062 11111 3 KLF9_chr9_73025885_73026723_F 1 . -1 -1 . -1 . . . . . . . chr9 78505059 78505140 11110 2 PCSK5_chr9_78507446_78507579_F 1 . -1 -1 . -1 . . . . . . . chr9 78505424 78505585 10101 1 PCSK5_chr9_78507446_78507579_F 1 . -1 -1 . -1 . . . . . . . chr9 80911329 80911465 11000 1 PSAT1_chr9_80910988_80912559_F:PSAT1_chr9_80911003_80911373_F 2 . -1 -1 . -1 . . . . . . . chr9 80911710 80911993 11111 3 PSAT1_chr9_80911003_80911373_F 1 . -1 -1 . -1 . . . . . . . chr9 82186789 82186915 11111 1 TLE4_chr9_82183644_82184027_F 1 . -1 -1 . -1 . . . . . . . chr9 84138195 84138361 10010 1 TLE1_chr9_84301709_84303162_S 1 . -1 -1 . -1 . . . . . . . chr9 84301709 84302127 10010 4 TLE1_chr9_84137738_84138405_S 1 . -1 -1 . -1 . . . . . . . chr9 84302753 84302879 10000 1 TLE1_chr9_84137738_84138405_S 1 . -1 -1 . -1 . . . . . . . chr9 88356504 88356651 10000 1 AGTPBP1_chr9_88357534_88357780_F:AGTPBP1_chr9_88358353_88358730_F 2 . -1 -1 . -1 . . . . . . . chr9 88356912 88357067 10000 1 AGTPBP1_chr9_88357534_88357780_F:AGTPBP1_chr9_88358353_88358730_F 2 . -1 -1 . -1 . . . . . . . chr9 90112426 90112629 10000 2 DAPK1_chr9_90110115_90110289_F:DAPK1_chr9_90115567_90115708_F 2 . -1 -1 . -1 . . . . . . . chr9 90114182 90114620 10000 2 DAPK1_chr9_90115567_90115708_F 1 . -1 -1 . -1 . . . . . . . chr9 90340763 90341136 00000 2 CTSL1_chr9_90337110_90337856_F 1 chr9 90340863 90340864 CR127899 + 3 DFP rs3118869 CTSL1 Hypertension: association with GCTTCCTCCAGGTCCACTGAGGCAGGCACG[C/A]CCAGCTCTGGGACAGTCAGTAAACAAGCCA 22871890 chr9 91147263 91147431 10000 2 NXNL2_chr9_91147225_91150516_F:NXNL2_chr9_91147328_91147523_F 2 . -1 -1 . -1 . . . . . . . chr9 91794778 91795090 11000 1 SHC3_chr9_91795136_91795669_F 1 . -1 -1 . -1 . . . . . . . chr9 91794836 91795090 11000 1 SHC3_chr9_91793181_91795603_F 1 . -1 -1 . -1 . . . . . . . chr9 91795260 91795574 11010 1 SHC3_chr9_91793181_91795603_F:SHC3_chr9_91795136_91795669_F 2 . -1 -1 . -1 . . . . . . . chr9 92218686 92218859 11101 1 GADD45G_chr9_92218572_92220427_F:GADD45G_chr9_92218643_92218902_F 2 . -1 -1 . -1 . . . . . . . chr9 92219723 92219895 11111 1 GADD45G_chr9_92218643_92218902_F 1 . -1 -1 . -1 . . . . . . . chr9 93958200 93958432 11000 2 NFIL3_chr9_94186010_94187139_S 1 . -1 -1 . -1 . . . . . . . chr9 93959485 93959845 11010 3 NFIL3_chr9_94186010_94187139_S 1 . -1 -1 . -1 . . . . . . . chr9 93960090 93960391 11010 3 NFIL3_chr9_94186010_94187139_S 1 . -1 -1 . -1 . . . . . . . chr9 94181959 94182247 11010 4 NFIL3_chr9_94182228_94186644_F 1 . -1 -1 . -1 . . . . . . . chr9 94182228 94182247 11010 4 NFIL3_chr9_94182259_94182597_F 1 . -1 -1 . -1 . . . . . . . chr9 94182599 94182765 11000 2 NFIL3_chr9_94182228_94186644_F:NFIL3_chr9_94182259_94182597_F 2 . -1 -1 . -1 . . . . . . . chr9 94184476 94184623 11010 1 NFIL3_chr9_94182259_94182597_F 1 . -1 -1 . -1 . . . . . . . chr9 94185096 94185742 11010 3 NFIL3_chr9_94182259_94182597_F 1 . -1 -1 . -1 . . . . . . . chr9 94186307 94186540 10000 2 NFIL3_chr9_93958200_93961209_S:NFIL3_chr9_94182259_94182597_F 2 . -1 -1 . -1 . . . . . . . chr9 94186800 94187010 11000 2 NFIL3_chr9_93958200_93961209_S 1 . -1 -1 . -1 . . . . . . . chr9 95527176 95527406 11000 1 BICD2_chr9_96074550_96075601_S 1 . -1 -1 . -1 . . . . . . . chr9 95857949 95858097 11010 1 C9orf89_chr9_95860928_95861146_F 1 . -1 -1 . -1 . . . . . . . chr9 95895583 95896097 11111 3 NINJ1_chr9_95894467_95895029_F 1 . -1 -1 . -1 . . . . . . . chr9 96075357 96075541 10000 1 BICD2_chr9_95526737_95527882_S 1 . -1 -1 . -1 . . . . . . . chr9 97400650 97400872 10000 1 FBP1_chr9_97400572_97402423_F:FBP1_chr9_97400572_97403031_F:FBP1_chr9_97400696_97400848_F:FBP1_chr9_97400696_97400848_F 4 . -1 -1 . -1 . . . . . . . chr9 97401702 97402423 10010 2 FBP1_chr9_97400696_97400848_F 1 . -1 -1 . -1 . . . . . . . chr9 97401702 97402549 10010 2 FBP1_chr9_97400696_97400848_F 1 . -1 -1 . -1 . . . . . . . chr9 98270190 98270308 10010 1 PTCH1_chr9_98273012_98273438_F:PTCH1_chr9_98273012_98273438_F:PTCH1_chr9_98273012_98273438_F 3 . -1 -1 . -1 . . . . . . . chr9 100263399 100263514 11010 1 TMOD1_chr9_100265790_100266140_F 1 . -1 -1 . -1 . . . . . . . chr9 100263420 100263514 11010 1 TMOD1_chr9_100265790_100266140_F 1 . -1 -1 . -1 . . . . . . . chr9 100880649 100880731 10111 2 TRIM14_chr9_100880117_100881980_F:TRIM14_chr9_100880117_100881988_F 2 . -1 -1 . -1 . . . . . . . chr9 100880649 100880878 10111 2 TRIM14_chr9_100880203_100880431_F:TRIM14_chr9_100880203_100880431_F 2 . -1 -1 . -1 . . . . . . . chr9 100881468 100881657 11101 1 TRIM14_chr9_100880203_100880431_F:TRIM14_chr9_100880203_100880431_F 2 . -1 -1 . -1 . . . . . . . chr9 101017707 101018116 11110 1 TBC1D2_chr9_101015938_101016120_F 1 . -1 -1 . -1 . . . . . . . chr9 107510411 107510526 10000 1 NIPSNAP3A_chr9_107510718_107511248_F 1 . -1 -1 . -1 . . . . . . . chr9 107510418 107510526 10000 1 NIPSNAP3A_chr9_107509468_107511184_F 1 . -1 -1 . -1 . . . . . . . chr9 109623878 109624003 10101 1 ZNF462_chr9_109623950_109625878_F 1 . -1 -1 . -1 . . . . . . . chr9 109623950 109624003 10101 1 ZNF462_chr9_109623887_109624414_F 1 . -1 -1 . -1 . . . . . . . chr9 112262110 112262223 11110 1 PTPN3_chr9_112260092_112262461_F:PTPN3_chr9_112262069_112262452_F 2 . -1 -1 . -1 . . . . . . . chr9 113014874 113015097 11000 1 TXN_chr9_113014576_113014999_F:TXN_chr9_113014587_113019420_F 2 . -1 -1 . -1 . . . . . . . chr9 113016795 113016942 10001 1 TXN_chr9_113014576_113014999_F 1 . -1 -1 . -1 . . . . . . . chr9 113018721 113019095 11100 2 TXN_chr9_113014576_113014999_F 1 . -1 -1 . -1 . . . . . . . chr9 115512828 115512969 11100 1 SNX30_chr9_115509312_115509740_F 1 . -1 -1 . -1 . . . . . . . chr9 115913145 115913260 11101 1 SLC31A2_chr9_115914968_115915416_F 1 . -1 -1 . -1 . . . . . . . chr9 115914116 115914285 10100 1 SLC31A2_chr9_115914968_115915416_F 1 . -1 -1 . -1 . . . . . . . chr9 115983547 115983828 11000 2 FKBP15_chr9_115981344_115981857_F:FKBP15_chr9_115982258_115982474_F 2 . -1 -1 . -1 . . . . . . . chr9 116342914 116343102 10010 2 RGS3_chr9_116341254_116341479_F 1 . -1 -1 . -1 . . . . . . . chr9 116415125 116415493 11000 4 AMBP_chr9_116838762_116839058_S 1 . -1 -1 . -1 . . . . . . . chr9 117349493 117349642 10000 2 ATP6V1G1_chr9_117351016_117351370_F 1 . -1 -1 . -1 . . . . . . . chr9 117349789 117350108 11101 1 ATP6V1G1_chr9_117351016_117351370_F 1 . -1 -1 . -1 . . . . . . . chr9 117350666 117350861 10000 1 ATP6V1G1_chr9_117351016_117351370_F 1 . -1 -1 . -1 . . . . . . . chr9 117350716 117350861 10000 1 ATP6V1G1_chr9_117349493_117351394_F 1 . -1 -1 . -1 . . . . . . . chr9 126689909 126690315 11000 2 DENND1A_chr9_126690044_126692917_F 1 . -1 -1 . -1 . . . . . . . chr9 126690044 126690315 11000 2 DENND1A_chr9_126690123_126690365_F 1 . -1 -1 . -1 . . . . . . . chr9 126691491 126691669 10000 2 DENND1A_chr9_126690123_126690365_F 1 . -1 -1 . -1 . . . . . . . chr9 129261830 129261943 11000 1 SLC2A8_chr9_130160135_130160590_S 1 . -1 -1 . -1 . . . . . . . chr9 130329729 130329929 10000 1 FAM129B_chr9_130328926_130329278_F:FAM129B_chr9_130329419_130331855_F:FAM129B_chr9_130329548_130329691_F 3 . -1 -1 . -1 . . . . . . . chr9 130717737 130717787 10000 2 LRRC8A_chr9_131641800_131642952_S:SLC2A8_chr9_130160135_130160590_S 2 . -1 -1 . -1 . . . . . . . chr9 130717933 130718209 10000 2 23883_chr9_131103735_131103927_S:ENSG00000234771_chr9_130880209_130880426_S:LRRC8A_chr9_131641800_131642952_S:SLC2A8_chr9_130160135_130160590_S:WDR34_chr9_131397387_131397576_S:WDR34_chr9_131397687_131398667_S 6 . -1 -1 . -1 . . . . . . . chr9 131397693 131398488 10010 1 WDR34_chr9_130717933_130718462_S 1 . -1 -1 . -1 . . . . . . . chr9 131642337 131642719 11101 4 LRRC8A_chr9_130717492_130717787_S:LRRC8A_chr9_130717933_130718462_S 2 . -1 -1 . -1 . . . . . . . chr9 131938139 131938722 11000 2 IER5L_chr9_131937094_131937487_F 1 . -1 -1 . -1 . . . . . . . chr9 132964357 132964428 11000 1 NCS1_chr9_132962371_132964117_F 1 . -1 -1 . -1 . . . . . . . chr9 133319593 133319716 11111 2 ASS1_chr9_133321021_133321306_F 1 . -1 -1 . -1 . . . . . . . chr9 133320108 133320271 11111 1 ASS1_chr9_133321021_133321306_F 1 . -1 -1 . -1 . . . . . . . chr9 133320981 133321223 11111 2 ASS1_chr9_133319593_133321364_F:ASS1_chr9_133321021_133321306_F 2 . -1 -1 . -1 . . . . . . . chr9 133321535 133321606 11101 2 ASS1_chr9_133319593_133321364_F 1 . -1 -1 . -1 . . . . . . . chr9 134581482 134581737 11000 2 RAPGEF1_chr9_134581441_134585729_F:RAPGEF1_chr9_134581500_134581783_F 2 . -1 -1 . -1 . . . . . . . chr9 134581998 134582083 10000 1 RAPGEF1_chr9_134581441_134585729_F 1 . -1 -1 . -1 . . . . . . . chr9 134581998 134582272 10000 1 RAPGEF1_chr9_134581500_134581783_F 1 . -1 -1 . -1 . . . . . . . chr9 134583617 134583845 11000 4 RAPGEF1_chr9_134583160_134585729_F 1 . -1 -1 . -1 . . . . . . . chr9 134583617 134584249 11000 4 RAPGEF1_chr9_134581500_134581783_F:RAPGEF1_chr9_134583176_134583545_F 2 . -1 -1 . -1 . . . . . . . chr9 134609724 134609838 11110 1 RAPGEF1_chr9_134609037_134613425_F 1 . -1 -1 . -1 . . . . . . . chr9 134609724 134609956 11110 1 RAPGEF1_chr9_134608936_134609538_F:RAPGEF1_chr9_134609529_134613425_F:RAPGEF1_chr9_134609553_134609906_F 3 . -1 -1 . -1 . . . . . . . chr9 134610919 134611241 11111 3 RAPGEF1_chr9_134608936_134609538_F:RAPGEF1_chr9_134609553_134609906_F:RAPGEF1_chr9_134610925_134613425_F:RAPGEF1_chr9_134611400_134611579_S 4 . -1 -1 . -1 . . . . . . . chr9 134610925 134611241 11111 3 RAPGEF1_chr9_134610888_134611363_F 1 . -1 -1 . -1 . . . . . . . chr9 134955219 134955357 11110 1 MED27_chr9_134953880_134954115_F 1 . -1 -1 . -1 . . . . . . . chr9 136856526 136856690 10100 1 VAV2_chr9_136856503_136857946_F:VAV2_chr9_136856624_136856782_F 2 . -1 -1 . -1 . . . . . . . chr9 136857201 136857501 11101 2 VAV2_chr9_136856624_136856782_F 1 . -1 -1 . -1 . . . . . . . chr9 137215587 137216008 10100 1 RXRA_chr9_137215534_137218816_F:RXRA_chr9_137215635_137215833_F 2 . -1 -1 . -1 . . . . . . . chr9 137216886 137217245 10101 1 RXRA_chr9_137215635_137215833_F 1 . -1 -1 . -1 . . . . . . . chr9 137217422 137217622 10001 1 RXRA_chr9_137215635_137215833_F 1 . -1 -1 . -1 . . . . . . . chr9 137218237 137218352 10100 1 RXRA_chr9_137215635_137215833_F:RXRA_chr9_137221069_137221192_F 2 . -1 -1 . -1 . . . . . . . chr9 137220430 137221264 11101 2 RXRA_chr9_137221069_137221192_F 1 . -1 -1 . -1 . . . . . . . chr9 137220769 137221264 11101 2 RXRA_chr9_137217815_137221331_F 1 . -1 -1 . -1 . . . . . . . chr9 138796954 138797101 10000 1 CAMSAP1_chr9_138796821_138799505_F:CAMSAP1_chr9_138796932_138797111_F 2 . -1 -1 . -1 . . . . . . . chr9 138986039 138986259 11000 1 NACC2_chr9_138985883_138987631_F:NACC2_chr9_138986008_138986159_F 2 . -1 -1 . -1 . . . . . . . chr9 138987056 138987207 10101 1 NACC2_chr9_138986008_138986159_F 1 . -1 -1 . -1 . . . . . . . chr9 139137614 139137739 10010 1 QSOX2_chr9_139136338_139136616_F 1 . -1 -1 . -1 . . . . . . . chr9 140091246 140091459 10000 1 TPRN_chr9_140091146_140095663_F:TPRN_chr9_140091235_140091458_F 2 . -1 -1 . -1 . . . . . . . chr9 140092469 140092828 10101 1 TPRN_chr9_140091235_140091458_F 1 . -1 -1 . -1 . . . . . . . chr9 140095282 140095663 10101 1 TPRN_chr9_140091235_140091458_F 1 . -1 -1 . -1 . . . . . . . chr9 140116134 140116404 10000 1 RNF208_chr9_140117588_140118357_F 1 . -1 -1 . -1 . . . . . . . chr10 5136476 5136649 10000 2 ENSG00000196139_chr10_5023917_5024420_S 1 chr10 5136499 5136500 CR060574 + 3 DFP rs3763676 AKR1C3 Polycystic ovary syndrome: association with ATTTTCTCCACAGACCATATAAGACTGCCT[A/G]TGTACCTCCTCCTACATGCCATTGGTTAAC 16263811 chr10 5665210 5665285 10100 1 ENSG00000228685_chr10_5023917_5024420_S 1 . -1 -1 . -1 . . . . . . . chr10 6017963 6018163 11110 1 IL15RA_chr10_6017920_6020074_F:IL15RA_chr10_6017924_6018316_F 2 . -1 -1 . -1 . . . . . . . chr10 6128408 6128583 11000 1 RBM17_chr10_6128475_6131449_F:RBM17_chr10_6128475_6131809_F 2 . -1 -1 . -1 . . . . . . . chr10 6128475 6128583 11000 1 RBM17_chr10_6128477_6128873_F:RBM17_chr10_6128477_6128873_F 2 . -1 -1 . -1 . . . . . . . chr10 6130850 6130960 11000 1 RBM17_chr10_6128477_6128873_F:RBM17_chr10_6128477_6128873_F 2 . -1 -1 . -1 . . . . . . . chr10 6242684 6242900 10010 2 PFKFB3_chr10_6242558_6245340_F:PFKFB3_chr10_6242613_6242903_F 2 . -1 -1 . -1 . . . . . . . chr10 6244765 6244890 11110 1 PFKFB3_chr10_6242613_6242903_F:PFKFB3_chr10_6243287_6243821_F:PFKFB3_chr10_6245814_6246792_F 3 . -1 -1 . -1 . . . . . . . chr10 7451878 7452032 10010 1 SFMBT2_chr10_7449887_7450154_F 1 . -1 -1 . -1 . . . . . . . chr10 7729273 7729431 11100 1 TAF3_chr10_7860128_7861267_S 1 . -1 -1 . -1 . . . . . . . chr10 7974400 7974479 10001 1 TAF3_chr10_7860128_7861267_S 1 . -1 -1 . -1 . . . . . . . chr10 11652837 11653007 11101 1 USP6NL_chr10_11651765_11651937_F:USP6NL_chr10_11652754_11654179_F:USP6NL_chr10_11652835_11653073_F 3 . -1 -1 . -1 . . . . . . . chr10 11654157 11654179 10111 1 USP6NL_chr10_11651765_11651937_F:USP6NL_chr10_11652835_11653073_F 2 . -1 -1 . -1 . . . . . . . chr10 11865270 11865384 11100 1 C10orf47_chr10_11866902_11867068_F 1 . -1 -1 . -1 . . . . . . . chr10 11866503 11866669 11111 2 C10orf47_chr10_11866902_11867068_F 1 . -1 -1 . -1 . . . . . . . chr10 11866602 11866669 11111 2 C10orf47_chr10_11864896_11867186_F 1 . -1 -1 . -1 . . . . . . . chr10 11867009 11867186 11111 1 C10orf47_chr10_11866902_11867068_F 1 . -1 -1 . -1 . . . . . . . chr10 11867009 11867213 11111 1 C10orf47_chr10_11864896_11867186_F 1 . -1 -1 . -1 . . . . . . . chr10 13390285 13390508 11110 3 SEPHS1_chr10_13391797_13392252_F 1 . -1 -1 . -1 . . . . . . . chr10 13390971 13391194 11011 1 SEPHS1_chr10_13391797_13392252_F 1 . -1 -1 . -1 . . . . . . . chr10 18550659 18551082 10000 2 CACNB2_chr10_18550812_18550951_F 1 . -1 -1 . -1 . . . . . . . chr10 18550659 18551251 10000 2 CACNB2_chr10_18549083_18551082_F 1 . -1 -1 . -1 . . . . . . . chr10 27149849 27150361 11111 3 ABI1_chr10_27147453_27147834_F 1 . -1 -1 . -1 . . . . . . . chr10 27531005 27531157 10000 1 ACBD5_chr10_27531769_27532240_F 1 . -1 -1 . -1 . . . . . . . chr10 27532087 27532205 10000 1 ACBD5_chr10_27531769_27532240_F 1 . -1 -1 . -1 . . . . . . . chr10 27532087 27532243 10000 1 ACBD5_chr10_27530567_27532205_F 1 . -1 -1 . -1 . . . . . . . chr10 30722710 30722820 11000 1 MAP3K8_chr10_30720407_30720642_F 1 . -1 -1 . -1 . . . . . . . chr10 30723394 30723450 11111 2 MAP3K8_chr10_30720407_30720642_F 1 . -1 -1 . -1 . . . . . . . chr10 32635070 32635279 11000 1 EPC1_chr10_32496274_32496517_S:EPC1_chr10_33227085_33227800_S:EPC1_chr10_33234000_33234077_S:EPC1_chr10_33619656_33620200_S 4 . -1 -1 . -1 . . . . . . . chr10 33619656 33619712 10100 1 EPC1_chr10_32635007_32636618_S 1 . -1 -1 . -1 . . . . . . . chr10 33621113 33621391 11010 2 NRP1_chr10_33621073_33624333_F:NRP1_chr10_33621123_33621423_F 2 . -1 -1 . -1 . . . . . . . chr10 33623830 33623968 10010 1 NRP1_chr10_33621123_33621423_F 1 . -1 -1 . -1 . . . . . . . chr10 35416171 35416323 11100 1 CREM_chr10_34502682_34502774_S 1 . -1 -1 . -1 . . . . . . . chr10 35931112 35931392 11000 1 FZD8_chr10_35932153_35932694_F 1 . -1 -1 . -1 . . . . . . . chr10 38146546 38146657 11010 1 ZNF248_chr10_38149659_38150080_F 1 . -1 -1 . -1 . . . . . . . chr10 38149820 38149960 10000 1 ZNF248_chr10_38145985_38150070_F:ZNF248_chr10_38149659_38150080_F 2 . -1 -1 . -1 . . . . . . . chr10 38265421 38265648 10000 1 ZNF25_chr10_38264185_38264489_F 1 . -1 -1 . -1 . . . . . . . chr10 43634440 43634550 10000 1 CSGALNACT2_chr10_43635714_43636276_F 1 . -1 -1 . -1 . . . . . . . chr10 43904224 43904735 10000 2 HNRNPF_chr10_43905259_43905708_F:HNRNPF_chr10_43905259_43905708_F:HNRNPF_chr10_43905259_43905708_F 3 . -1 -1 . -1 . . . . . . . chr10 45868683 45868850 10000 1 ALOX5_chr10_45868713_45870129_F 1 . -1 -1 . -1 . . . . . . . chr10 45868713 45868850 10000 1 ALOX5_chr10_45868742_45869084_F 1 . -1 -1 . -1 . . . . . . . chr10 50398097 50398275 10000 3 C10orf128_chr10_50395906_50398412_F:C10orf128_chr10_50398133_50398290_F 2 . -1 -1 . -1 . . . . . . . chr10 51559292 51559542 10000 2 ENSG00000138293_chr10_51572035_51572735_S:SGMS1_chr10_52381851_52382087_S:SGMS1_chr10_52382927_52385398_S 3 . -1 -1 . -1 . . . . . . . chr10 51572367 51572607 11000 2 ENSG00000138293_chr10_51559259_51560591_S:NCOA4_chr10_51574472_51574922_F 2 . -1 -1 . -1 . . . . . . . chr10 51574593 51574796 11000 3 NCOA4_chr10_51571863_51574898_F:NCOA4_chr10_51574472_51574922_F:NCOA4_chr10_51574472_51574922_F:NCOA4_chr10_51574497_51576785_F 4 . -1 -1 . -1 . . . . . . . chr10 51575862 51576365 11000 3 NCOA4_chr10_51574472_51574922_F 1 . -1 -1 . -1 . . . . . . . chr10 52381885 52382087 10000 2 SGMS1_chr10_51559259_51560591_S 1 . -1 -1 . -1 . . . . . . . chr10 52383697 52383844 10000 1 SGMS1_chr10_51559259_51560591_S 1 . -1 -1 . -1 . . . . . . . chr10 52384342 52385272 10000 3 SGMS1_chr10_51559259_51560591_S 1 . -1 -1 . -1 . . . . . . . chr10 60026131 60026380 10000 2 IPMK_chr10_60026000_60028194_F:IPMK_chr10_60026015_60026385_F 2 . -1 -1 . -1 . . . . . . . chr10 60026713 60026878 10000 1 IPMK_chr10_60026015_60026385_F 1 . -1 -1 . -1 . . . . . . . chr10 60027785 60027912 10000 1 IPMK_chr10_60026015_60026385_F 1 . -1 -1 . -1 . . . . . . . chr10 61666294 61666408 11010 1 CCDC6_chr10_61664562_61664999_F 1 . -1 -1 . -1 . . . . . . . chr10 61666561 61666854 11110 1 CCDC6_chr10_61664562_61664999_F 1 . -1 -1 . -1 . . . . . . . chr10 62332248 62332616 11100 2 ANK3_chr10_62330469_62330833_F 1 . -1 -1 . -1 . . . . . . . chr10 63657505 63657791 11111 1 ARID5B_chr10_63657432_63661513_F:ARID5B_chr10_63657527_63657737_F 2 . -1 -1 . -1 . . . . . . . chr10 63659732 63660178 11111 3 ARID5B_chr10_63657527_63657737_F:ARID5B_chr10_63658924_63659147_F 2 . -1 -1 . -1 . . . . . . . chr10 63660454 63660890 11111 1 ARID5B_chr10_63657527_63657737_F:ARID5B_chr10_63658924_63659147_F 2 . -1 -1 . -1 . . . . . . . chr10 63660512 63660890 11111 1 ARID5B_chr10_63663540_63663817_F 1 . -1 -1 . -1 . . . . . . . chr10 63661308 63661513 11111 2 ARID5B_chr10_63657527_63657737_F:ARID5B_chr10_63658924_63659147_F 2 . -1 -1 . -1 . . . . . . . chr10 63661308 63661538 11111 2 ARID5B_chr10_63663540_63663817_F 1 . -1 -1 . -1 . . . . . . . chr10 63662646 63662885 11111 1 ARID5B_chr10_63663540_63663817_F 1 . -1 -1 . -1 . . . . . . . chr10 63663245 63663627 10111 2 ARID5B_chr10_63660512_63663879_F:ARID5B_chr10_63663540_63663817_F 2 . -1 -1 . -1 . . . . . . . chr10 70088102 70088314 10010 1 HNRNPH3_chr10_70088126_70092268_F 1 . -1 -1 . -1 . . . . . . . chr10 70088126 70088314 10010 1 HNRNPH3_chr10_70088080_70088572_F 1 . -1 -1 . -1 . . . . . . . chr10 70091505 70091877 10010 2 HNRNPH3_chr10_70088080_70088572_F 1 . -1 -1 . -1 . . . . . . . chr10 73099956 73100218 10100 4 DDIT4_chr10_74032323_74035129_S 1 . -1 -1 . -1 . . . . . . . chr10 73530686 73530827 10000 1 C10orf54_chr10_73529064_73529499_F:C10orf54_chr10_73530522_73531091_F:C10orf54_chr10_73530606_73533837_F 3 . -1 -1 . -1 . . . . . . . chr10 73610945 73611220 11000 1 PSAP_chr10_73612356_73612502_F 1 chr10 73610978 73610979 CM083049 - 1 DM NULL PSAP Metachromatic leukodystrophy gcattgcagactgcggagtcagacggcgct[A/G]TGTACGCCCTCTTCCTCCTGGCCAGCCTCC 17616409 chr10 73610945 73611220 11000 1 PSAP_chr10_73612356_73612502_F 1 chr10 73610978 73610979 CM920598 - 1 DM rs121918106 PSAP Prosaposin deficiency gcattgcagactgcggagtcagacggcgct[A/T]TGTACGCCCTCTTCCTCCTGGCCAGCCTCC 1371116 chr10 74032564 74032867 11111 3 DDIT4_chr10_73099600_73100582_S 1 . -1 -1 . -1 . . . . . . . chr10 74033335 74033786 11111 2 DDIT4_chr10_73099600_73100582_S 1 . -1 -1 . -1 . . . . . . . chr10 74451696 74451846 11101 1 CCDC109A_chr10_74453097_74453245_F 1 . -1 -1 . -1 . . . . . . . chr10 75336044 75336259 10000 3 USP54_chr10_75337715_75337998_F 1 . -1 -1 . -1 . . . . . . . chr10 75337693 75337913 10000 1 USP54_chr10_75334932_75338057_F:USP54_chr10_75337715_75337998_F 2 . -1 -1 . -1 . . . . . . . chr10 77162139 77162307 11000 2 ZNF503_chr10_77164585_77164731_F 1 . -1 -1 . -1 . . . . . . . chr10 80828601 80828763 10111 2 ZMIZ1_chr10_80830818_80831199_F 1 . -1 -1 . -1 . . . . . . . chr10 80830153 80830295 11111 1 ZMIZ1_chr10_80830818_80831199_F 1 . -1 -1 . -1 . . . . . . . chr10 80830889 80831209 11111 3 ZMIZ1_chr10_80830818_80831199_F 1 . -1 -1 . -1 . . . . . . . chr10 80830889 80831238 11111 3 ZMIZ1_chr10_80828291_80831209_F 1 . -1 -1 . -1 . . . . . . . chr10 80865266 80865290 10000 1 ZMIZ1_chr10_80826727_80827482_S 1 . -1 -1 . -1 . . . . . . . chr10 80871304 80871484 10111 2 PPIF_chr10_81106925_81108115_S 1 . -1 -1 . -1 . . . . . . . chr10 80917258 80917592 11111 2 PPIF_chr10_81106925_81108115_S 1 . -1 -1 . -1 . . . . . . . chr10 81107154 81107275 11100 1 PPIF_chr10_80871200_80871529_S:PPIF_chr10_80916799_80918000_S:PPIF_chr10_81104618_81104919_F:PPIF_chr10_81105192_81105332_F 4 . -1 -1 . -1 . . . . . . . chr10 81107683 81107720 11100 2 PPIF_chr10_81104618_81104919_F:PPIF_chr10_81105192_81105332_F 2 . -1 -1 . -1 . . . . . . . chr10 81107683 81108011 11100 2 PPIF_chr10_80871200_80871529_S:PPIF_chr10_80916799_80918000_S 2 . -1 -1 . -1 . . . . . . . chr10 82213592 82213857 11001 1 TSPAN14_chr10_82214819_82214901_F:TSPAN14_chr10_82215085_82215437_F 2 . -1 -1 . -1 . . . . . . . chr10 82214752 82215042 10001 1 TSPAN14_chr10_82213537_82215061_F:TSPAN14_chr10_82214819_82214901_F:TSPAN14_chr10_82215085_82215437_F 3 . -1 -1 . -1 . . . . . . . chr10 82214785 82215042 10001 1 TSPAN14_chr10_82213537_82215462_F 1 . -1 -1 . -1 . . . . . . . chr10 82299074 82299243 10000 1 SH2D4B_chr10_82299421_82299771_F 1 . -1 -1 . -1 . . . . . . . chr10 82299121 82299243 10000 1 SH2D4B_chr10_82297157_82299797_F:SH2D4B_chr10_82299396_82301075_F 2 . -1 -1 . -1 . . . . . . . chr10 88517189 88517564 11110 2 BMPR1A_chr10_88515895_88517638_F:BMPR1A_chr10_88517208_88517667_F 2 . -1 -1 . -1 . . . . . . . chr10 88713736 88713851 10000 1 SNCG_chr10_88713973_88718788_F 1 . -1 -1 . -1 . . . . . . . chr10 90613108 90613269 10000 1 ANKRD22_chr10_90612844_90613292_F 1 . -1 -1 . -1 . . . . . . . chr10 90613108 90613291 10000 1 ANKRD22_chr10_90611231_90613269_F 1 . -1 -1 . -1 . . . . . . . chr10 90640410 90640855 10000 1 STAMBPL1_chr10_90643265_90643581_F 1 . -1 -1 . -1 . . . . . . . chr10 91091889 91092244 11000 1 IFIT3_chr10_91096041_91096297_F 1 . -1 -1 . -1 . . . . . . . chr10 92979722 92979990 10100 1 PCGF5_chr10_93504833_93505072_S 1 . -1 -1 . -1 . . . . . . . chr10 94002998 94003175 10000 1 CPEB3_chr10_94001133_94001473_F 1 . -1 -1 . -1 . . . . . . . chr10 94831644 94831956 10100 3 CYP26A1_chr10_94831603_94833732_F:CYP26A1_chr10_94831603_94834147_F:CYP26A1_chr10_94831659_94831948_F:CYP26A1_chr10_94831659_94831948_F 4 . -1 -1 . -1 . . . . . . . chr10 94832219 94832248 10100 1 CYP26A1_chr10_94831603_94833732_F:CYP26A1_chr10_94831603_94834147_F 2 . -1 -1 . -1 . . . . . . . chr10 94832219 94832377 10100 1 CYP26A1_chr10_94831659_94831948_F:CYP26A1_chr10_94831659_94831948_F 2 . -1 -1 . -1 . . . . . . . chr10 95360951 95361647 11101 4 RBP4_chr10_95357000_95357200_S 1 chr10 95361588 95361589 CR071285 - 3 DFP rs3758539 RBP4 Diabetes: type 2: association with GTTGCGTTTCTGGAGAATATTTAACAGGGA[G/A]GGTTTTAACGCTTTTAAAGATGTTGAAACT 17006670 chr10 95517590 95517713 10000 1 LGI1_chr10_95513454_95513618_F 1 . -1 -1 . -1 . . . . . . . chr10 97200652 97200767 10000 1 SORBS1_chr10_97205086_97205311_F 1 . -1 -1 . -1 . . . . . . . chr10 97203483 97203684 10000 1 SORBS1_chr10_97205086_97205311_F 1 . -1 -1 . -1 . . . . . . . chr10 97205058 97205233 11100 2 SORBS1_chr10_97200436_97205399_F:SORBS1_chr10_97205086_97205311_F 2 . -1 -1 . -1 . . . . . . . chr10 97321138 97321335 11000 1 SORBS1_chr10_97319295_97319590_F 1 . -1 -1 . -1 . . . . . . . chr10 98031301 98031574 11101 2 BLNK_chr10_98032542_98032692_F 1 . -1 -1 . -1 . . . . . . . chr10 98479142 98479323 11101 1 PIK3AP1_chr10_98478371_98480779_F 1 . -1 -1 . -1 . . . . . . . chr10 98479142 98479326 11101 1 PIK3AP1_chr10_98476098_98476599_F:PIK3AP1_chr10_98478120_98479023_F 2 . -1 -1 . -1 . . . . . . . chr10 98480262 98480418 10101 1 PIK3AP1_chr10_98476098_98476599_F:PIK3AP1_chr10_98478120_98479023_F 2 . -1 -1 . -1 . . . . . . . chr10 99400122 99400505 10000 3 PI4K2A_chr10_99401742_99402052_F 1 . -1 -1 . -1 . . . . . . . chr10 101380207 101381540 11101 2 SLC25A28_chr10_101382479_101382644_F 1 . -1 -1 . -1 . . . . . . . chr10 101542207 101542575 11100 4 ABCC2_chr10_101543856_101543953_F 1 . -1 -1 . -1 . . . . . . . chr10 101943294 101943488 11101 3 ERLIN1_chr10_101942179_101942274_F:ERLIN1_chr10_101942179_101942274_F 2 . -1 -1 . -1 . . . . . . . chr10 101943730 101943922 10101 1 ERLIN1_chr10_101942179_101942274_F:ERLIN1_chr10_101942179_101942274_F 2 . -1 -1 . -1 . . . . . . . chr10 101945721 101945964 11101 1 ERLIN1_chr10_101942179_101942274_F:ERLIN1_chr10_101942179_101942274_F:ERLIN1_chr10_101944283_101944461_F:ERLIN1_chr10_101944283_101944461_F 4 . -1 -1 . -1 . . . . . . . chr10 103892657 103892767 00000 1 PPRC1_chr10_104813337_104814200_S 1 . -1 -1 . -1 . . . . . . . chr10 104403998 104404194 11100 1 TRIM8_chr10_104406463_104406725_F:TRIM8_chr10_104406801_104407099_F:TRIM8_chr10_104813337_104814200_S 3 . -1 -1 . -1 . . . . . . . chr10 104404777 104405410 11101 3 TRIM8_chr10_104406463_104406725_F:TRIM8_chr10_104406801_104407099_F:TRIM8_chr10_104813337_104814200_S 3 . -1 -1 . -1 . . . . . . . chr10 104405711 104405925 11100 1 TRIM8_chr10_104813337_104814200_S 1 . -1 -1 . -1 . . . . . . . chr10 104405711 104405998 11100 1 TRIM8_chr10_104406463_104406725_F:TRIM8_chr10_104406801_104407099_F 2 . -1 -1 . -1 . . . . . . . chr10 104534945 104535574 11000 2 C10orf26_chr10_104533606_104534005_F 1 . -1 -1 . -1 . . . . . . . chr10 104535948 104536068 11101 1 C10orf26_chr10_104533606_104534005_F 1 . -1 -1 . -1 . . . . . . . chr10 104813592 104813881 10000 3 PPRC1_chr10_103892318_103893884_S:SUFU_chr10_104263487_104263978_S:TRIM8_chr10_104403867_104405925_S 3 . -1 -1 . -1 . . . . . . . chr10 104956997 104957128 10000 1 NT5C2_chr10_104952562_104957317_F:NT5C2_chr10_104956992_104957240_F 2 . -1 -1 . -1 . . . . . . . chr10 105417998 105418239 11100 2 SH3PXD2A_chr10_105419353_105421047_S 1 . -1 -1 . -1 . . . . . . . chr10 105419803 105419925 10000 1 SH3PXD2A_chr10_105417800_105418400_S 1 . -1 -1 . -1 . . . . . . . chr10 105420033 105420506 11100 1 SH3PXD2A_chr10_105417800_105418400_S 1 . -1 -1 . -1 . . . . . . . chr10 106096544 106096713 10000 2 ITPRIP_chr10_106093162_106096779_F:ITPRIP_chr10_106096287_106096870_F 2 . -1 -1 . -1 . . . . . . . chr10 106096885 106097170 10000 2 ITPRIP_chr10_106093162_106096779_F 1 . -1 -1 . -1 . . . . . . . chr10 106109090 106109130 10000 1 CCDC147_chr10_106109417_106114022_F 1 . -1 -1 . -1 . . . . . . . chr10 106109338 106109559 11000 3 CCDC147_chr10_106109417_106114022_F 1 . -1 -1 . -1 . . . . . . . chr10 106109417 106109559 11000 3 CCDC147_chr10_106109390_106109845_F 1 . -1 -1 . -1 . . . . . . . chr10 106110031 106110145 10000 1 CCDC147_chr10_106109417_106114022_F 1 . -1 -1 . -1 . . . . . . . chr10 106110031 106110175 10000 1 CCDC147_chr10_106109390_106109845_F 1 . -1 -1 . -1 . . . . . . . chr10 111767057 111767084 11000 1 ADD3_chr10_111765225_111766798_F 1 . -1 -1 . -1 . . . . . . . chr10 111981657 111981785 10101 1 MXI1_chr10_111981632_111986262_F:MXI1_chr10_111981639_111982026_F 2 . -1 -1 . -1 . . . . . . . chr10 111985408 111985847 10101 3 MXI1_chr10_111981639_111982026_F 1 . -1 -1 . -1 . . . . . . . chr10 112257604 112257766 11100 1 DUSP5_chr10_112259301_112259712_F:DUSP5_chr10_112261043_112261328_F 2 . -1 -1 . -1 . . . . . . . chr10 114135455 114135572 11100 1 ACSL5_chr10_114139786_114140040_F 1 . -1 -1 . -1 . . . . . . . chr10 114135788 114135990 11101 1 ACSL5_chr10_114139786_114140040_F 1 . -1 -1 . -1 . . . . . . . chr10 114139441 114140061 11101 3 ACSL5_chr10_114139786_114140040_F 1 . -1 -1 . -1 . . . . . . . chr10 114139486 114140061 11101 3 ACSL5_chr10_114135455_114140114_F 1 . -1 -1 . -1 . . . . . . . chr10 114708974 114709442 10000 1 TCF7L2_chr10_114709011_114710509_F 1 . -1 -1 . -1 . . . . . . . chr10 114709011 114709442 10000 1 TCF7L2_chr10_114709018_114709405_F 1 . -1 -1 . -1 . . . . . . . chr10 114709800 114710147 10101 3 TCF7L2_chr10_114709018_114709405_F 1 . -1 -1 . -1 . . . . . . . chr10 116164125 116164301 11000 1 AFAP1L2_chr10_116163429_116163722_F 1 . -1 -1 . -1 . . . . . . . chr10 118034254 118034358 10100 1 GFRA1_chr10_118031318_118034509_F:GFRA1_chr10_118032295_118034509_F:GFRA1_chr10_118032625_118034509_F:GFRA1_chr10_118034123_118034494_F:GFRA1_chr10_118034123_118034494_F:GFRA1_chr10_118034123_118034494_F 6 . -1 -1 . -1 . . . . . . . chr10 119303997 119304386 11100 1 EMX2_chr10_119305717_119306203_F 1 . -1 -1 . -1 . . . . . . . chr10 120966915 120967095 11100 1 GRK5_chr10_120968752_120969030_F 1 . -1 -1 . -1 . . . . . . . chr10 121412049 121412220 11000 1 BAG3_chr10_121410381_121412465_F:BAG3_chr10_121412148_121412380_F 2 . -1 -1 . -1 . . . . . . . chr10 126158935 126159830 11101 4 FAM53B_chr10_126429907_126430019_S 1 . -1 -1 . -1 . . . . . . . chr10 126429919 126430019 11100 1 FAM53B_chr10_126158935_126159963_S 1 . -1 -1 . -1 . . . . . . . chr10 126429919 126430081 11100 1 FAM53B_chr10_126429723_126430192_F:FAM53B_chr10_126429757_126433430_F 2 . -1 -1 . -1 . . . . . . . chr10 126433368 126433430 11101 1 FAM53B_chr10_126429723_126430192_F 1 . -1 -1 . -1 . . . . . . . chr10 131760913 131761118 11101 1 EBF3_chr10_131758339_131758817_F 1 . -1 -1 . -1 . . . . . . . chr10 134351657 134351839 10000 1 INPP5A_chr10_134349556_134349919_F 1 . -1 -1 . -1 . . . . . . . chr10 135091280 135091418 10000 1 ADAM8_chr10_135092117_135092276_F:ADAM8_chr10_135092436_135092746_F 2 . -1 -1 . -1 . . . . . . . chr10 135091657 135091833 10000 2 ADAM8_chr10_135092117_135092276_F:ADAM8_chr10_135092436_135092746_F 2 . -1 -1 . -1 . . . . . . . chr10 135091817 135091833 10000 2 ADAM8_chr10_135089906_135092397_F 1 . -1 -1 . -1 . . . . . . . chr10 135092068 135092220 10000 2 ADAM8_chr10_135089906_135092397_F:ADAM8_chr10_135092117_135092276_F:ADAM8_chr10_135092436_135092746_F 3 . -1 -1 . -1 . . . . . . . chr10 135092136 135092220 10000 2 ADAM8_chr10_135089906_135092792_F 1 . -1 -1 . -1 . . . . . . . chr10 135118520 135118535 10000 1 TUBGCP2_chr10_135118839_135123144_F 1 . -1 -1 . -1 . . . . . . . chr10 135121368 135121535 11000 1 TUBGCP2_chr10_135118820_135119258_F:TUBGCP2_chr10_135119353_135119734_F 2 . -1 -1 . -1 . . . . . . . chr10 135340398 135340785 00000 3 CYP2E1_chr10_135342737_135342867_F 1 . -1 -1 . -1 . . . . . . . chr10 135341374 135341571 00000 1 CYP2E1_chr10_135342737_135342867_F 1 . -1 -1 . -1 . . . . . . . chr11 314408 314491 10000 1 IFITM1_chr11_312288_312763_F 1 . -1 -1 . -1 . . . . . . . chr11 314408 314543 10000 1 IFITM1_chr11_316246_316608_F:IFITM1_chr11_316965_317318_F 2 . -1 -1 . -1 . . . . . . . chr11 315088 315277 10000 2 IFITM1_chr11_316246_316608_F:IFITM1_chr11_316965_317318_F 2 . -1 -1 . -1 . . . . . . . chr11 316266 316438 10000 1 IFITM1_chr11_313490_316628_F:IFITM1_chr11_316246_316608_F:IFITM1_chr11_316965_317318_F 3 . -1 -1 . -1 . . . . . . . chr11 450180 450352 00000 1 PTDSS2_chr11_587800_588400_S:PTDSS2_chr11_838533_839200_S 2 . -1 -1 . -1 . . . . . . . chr11 587900 588180 10000 3 DEAF1_chr11_696562_696752_S:PTDSS2_chr11_449908_451264_S 2 . -1 -1 . -1 . . . . . . . chr11 749797 750023 10101 1 TALDO1_chr11_746931_750157_F:TALDO1_chr11_749835_750077_F 2 . -1 -1 . -1 . . . . . . . chr11 821283 821559 10101 2 PNPLA2_chr11_838533_839200_S 1 . -1 -1 . -1 . . . . . . . chr11 1330931 1331212 10001 1 TOLLIP_chr11_1328544_1328761_F 1 . -1 -1 . -1 . . . . . . . chr11 1863889 1864112 10000 1 TNNI2_chr11_1860931_1864245_F:TNNI2_chr11_1863948_1864140_F 2 . -1 -1 . -1 . . . . . . . chr11 1974228 1974619 10000 2 CD81_chr11_2420916_2422578_S 1 . -1 -1 . -1 . . . . . . . chr11 2421577 2421926 11101 3 CD81_chr11_1974033_1974880_S 1 . -1 -1 . -1 . . . . . . . chr11 2950172 2950446 11101 1 PHLDA2_chr11_2951529_2951649_F 1 . -1 -1 . -1 . . . . . . . chr11 3830518 3830721 11110 2 PGAP2_chr11_3833340_3833454_F 1 . -1 -1 . -1 . . . . . . . chr11 3862334 3862444 10100 1 RHOG_chr11_3859822_3860019_F 1 . -1 -1 . -1 . . . . . . . chr11 4414924 4415107 11111 1 TRIM21_chr11_4413870_4414271_F 1 . -1 -1 . -1 . . . . . . . chr11 10329100 10329767 11111 2 AMPD3_chr11_10757030_10757369_S 1 . -1 -1 . -1 . . . . . . . chr11 10757278 10757369 10101 1 AMPD3_chr11_10329000_10329886_S 1 . -1 -1 . -1 . . . . . . . chr11 12131965 12132464 10000 1 MICAL2_chr11_12132692_12132808_F:MICAL2_chr11_12133218_12133350_F:MICAL2_chr11_12136145_12136580_F 3 . -1 -1 . -1 . . . . . . . chr11 12132392 12132464 10000 1 MICAL2_chr11_12131637_12132951_F 1 . -1 -1 . -1 . . . . . . . chr11 12695646 12695756 11100 1 TEAD1_chr11_12697923_12698543_F:TEAD1_chr11_12698857_12698926_F 2 . -1 -1 . -1 . . . . . . . chr11 12698002 12698155 10001 1 TEAD1_chr11_12695468_12698434_F:TEAD1_chr11_12697923_12698543_F:TEAD1_chr11_12698857_12698926_F 3 . -1 -1 . -1 . . . . . . . chr11 13298981 13299449 11111 1 ARNTL_chr11_13299973_13300299_F 1 . -1 -1 . -1 . . . . . . . chr11 14913250 14913339 11000 1 CYP2R1_chr11_14916687_14916856_F 1 . -1 -1 . -1 . . . . . . . chr11 14913791 14914073 11101 2 CYP2R1_chr11_14916687_14916856_F 1 . -1 -1 . -1 . . . . . . . chr11 14916278 14916957 11100 2 CYP2R1_chr11_14916687_14916856_F 1 . -1 -1 . -1 . . . . . . . chr11 14916387 14916957 11100 2 CYP2R1_chr11_14913250_14916972_F 1 . -1 -1 . -1 . . . . . . . chr11 17036079 17036258 11100 1 PLEKHA7_chr11_17036768_17036996_F 1 . -1 -1 . -1 . . . . . . . chr11 17373171 17373565 10000 2 B7H6_chr11_17372476_17372625_F:B7H6_chr11_17374298_17375700_F 2 . -1 -1 . -1 . . . . . . . chr11 17374635 17374736 10000 1 B7H6_chr11_17372808_17375200_F:B7H6_chr11_17374298_17375700_F 2 . -1 -1 . -1 . . . . . . . chr11 18548005 18548185 10100 1 TSG101_chr11_18546072_18546398_F 1 . -1 -1 . -1 . . . . . . . chr11 18548715 18548872 11100 3 TSG101_chr11_18546072_18546398_F 1 . -1 -1 . -1 . . . . . . . chr11 19734380 19734387 10100 1 NAV2_chr11_19736892_19737150_F 1 . -1 -1 . -1 . . . . . . . chr11 19737056 19737222 10000 2 NAV2_chr11_19736892_19737150_F 1 . -1 -1 . -1 . . . . . . . chr11 19737056 19737250 10000 2 NAV2_chr11_19734380_19737222_F 1 . -1 -1 . -1 . . . . . . . chr11 22696084 22696502 11111 4 GAS2_chr11_22698546_22699009_F 1 . -1 -1 . -1 . . . . . . . chr11 28129718 28129850 11100 1 METTL15_chr11_28128920_28129110_F 1 . -1 -1 . -1 . . . . . . . chr11 44586640 44586794 10001 1 CD82_chr11_44590064_44591217_F 1 . -1 -1 . -1 . . . . . . . chr11 46938784 46939011 11101 1 LRP4_chr11_46938650_46940673_F:LRP4_chr11_46938695_46939005_F 2 . -1 -1 . -1 . . . . . . . chr11 47574700 47574868 11111 1 CELF1_chr11_47573563_47574025_F 1 . -1 -1 . -1 . . . . . . . chr11 47788819 47789229 11111 3 FNBP4_chr11_47787265_47787534_F 1 . -1 -1 . -1 . . . . . . . chr11 48002679 48002836 10100 1 PTPRJ_chr11_48004294_48004631_F 1 . -1 -1 . -1 . . . . . . . chr11 57333690 57333945 11111 1 UBE2L6_chr11_57333629_57335680_F:UBE2L6_chr11_57333685_57333973_F 2 . -1 -1 . -1 . . . . . . . chr11 57336635 57337079 11000 3 UBE2L6_chr11_57334679_57337137_F:UBE2L6_chr11_57336823_57337050_F 2 . -1 -1 . -1 . . . . . . . chr11 57364864 57365172 11111 4 SERPING1_chr11_57366352_57366685_F 1 chr11 57365055 57365056 CR961722 + 3 DM NULL SERPING1 Angioneurotic oedema TCCTGATTTACAGGAACTCACACCAGCGAT[C/T]AATCTTCCTTAATTTGTAACTGGGCAGTGT 8755917 chr11 57364864 57365172 11111 4 SERPING1_chr11_57366352_57366685_F 1 chr11 57365057 57365058 HR080001 + 3 DM NULL SERPING1 Angioneurotic oedema CTGATTTACAGGAACTCACACCAGCGATCA[A/G]TCTTCCTTAATTTGTAACTGGGCAGTGTCC HGOL chr11 57364864 57365172 11111 4 SERPING1_chr11_57366352_57366685_F 1 chr11 57365118 57365119 CR961721 + 3 DM NULL SERPING1 Angioneurotic oedema CGGGCCAGCCAATAGCTAAGACTGCCCCCC[C/G]CGCACCCCACCCTCCCTGACCCTGGGGGAC 8755917 chr11 57365436 57365853 11000 1 SERPING1_chr11_57366352_57366685_F:SERPING1_chr11_57366352_57366685_F 2 chr11 57365720 57365721 CS105963 + 2 DM NULL SERPING1 Angioneurotic oedema ggagctggctccgaggctggctggctccgc[A/G]gGTCCGCTGACGTCGCCGCCCAGATGGCCT 20804470 chr11 57365436 57365853 11000 1 SERPING1_chr11_57366352_57366685_F:SERPING1_chr11_57366352_57366685_F 2 chr11 57365721 57365722 CS963044 + 2 DM NULL SERPING1 Angioneurotic oedema gagctggctccgaggctggctggctccgca[G/A]GTCCGCTGACGTCGCCGCCCAGATGGCCTC 8755917 chr11 57365436 57365853 11000 1 SERPING1_chr11_57366352_57366685_F:SERPING1_chr11_57366352_57366685_F 2 chr11 57365723 57365724 CS131171 + 2 DM? rs28362944 SERPING1 Angioedema: hereditary gctggctccgaggctggctggctccgcagG[T/C]CCGCTGACGTCGCCGCCCAGATGGCCTCCA 23437219 chr11 57365436 57365853 11000 1 SERPING1_chr11_57366352_57366685_F:SERPING1_chr11_57366352_57366685_F 2 chr11 57365744 57365745 CM083125 + 1 DM NULL SERPING1 Angioneurotic oedema ctccgcaggtccgctgacgtcgccgcccag[A/T]TGGCCTCCAGGCTGACCCTGCTGACCCTCC 18586324 chr11 57365436 57365853 11000 1 SERPING1_chr11_57366352_57366685_F:SERPING1_chr11_57366352_57366685_F 2 chr11 57365744 57365745 HM080040 + 1 DM NULL SERPING1 Angioneurotic oedema ctccgcaggtccgctgacgtcgccgcccag[A/G]TGGCCTCCAGGCTGACCCTGCTGACCCTCC HGOL chr11 57365436 57365853 11000 1 SERPING1_chr11_57366352_57366685_F:SERPING1_chr11_57366352_57366685_F 2 chr11 57365745 57365746 CM083106 + 1 DM NULL SERPING1 Angioneurotic oedema tccgcaggtccgctgacgtcgccgcccagA[T/A]GGCCTCCAGGCTGACCCTGCTGACCCTCCT 18586324 chr11 57365436 57365853 11000 1 SERPING1_chr11_57366352_57366685_F:SERPING1_chr11_57366352_57366685_F 2 chr11 57365746 57365747 CM083108 + 1 DM NULL SERPING1 Angioneurotic oedema ccgcaggtccgctgacgtcgccgcccagAT[G/A]GCCTCCAGGCTGACCCTGCTGACCCTCCTG 18586324 chr11 57365436 57365853 11000 1 SERPING1_chr11_57366352_57366685_F:SERPING1_chr11_57366352_57366685_F 2 chr11 57365748 57365749 CM087067 + 1 DM rs185342631 SERPING1 Angioneurotic oedema gcaggtccgctgacgtcgccgcccagATGG[C/T]CTCCAGGCTGACCCTGCTGACCCTCCTGCT 18758157 chr11 57365436 57365853 11000 1 SERPING1_chr11_57366352_57366685_F:SERPING1_chr11_57366352_57366685_F 2 chr11 57365756 57365757 CI962234 + 6 DM NULL SERPING1 Angioneurotic oedema CTGACGTCGCCGCCCAGATGGCCTCCAGGC[-/CTCCAGGC]TGACCCTGCTGACCCTCCTGCTGCTGCTGC 8755917 chr11 57365436 57365853 11000 1 SERPING1_chr11_57366352_57366685_F:SERPING1_chr11_57366352_57366685_F 2 chr11 57365759 57365760 CI004601 + 6 DM NULL SERPING1 Angioneurotic oedema ACGTCGCCGCCCAGATGGCCTCCAGGCTGA[-/GA]CCCTGCTGACCCTCCTGCTGCTGCTGCTGG 10719305 chr11 57365436 57365853 11000 1 SERPING1_chr11_57366352_57366685_F:SERPING1_chr11_57366352_57366685_F 2 chr11 57365766 57365767 CI105964 + 6 DM NULL SERPING1 Angioneurotic oedema CGCCCAGATGGCCTCCAGGCTGACCCTGCT[-/T]GACCCTCCTGCTGCTGCTGCTGGCTGGGGT 20804470 chr11 57365436 57365853 11000 1 SERPING1_chr11_57366352_57366685_F:SERPING1_chr11_57366352_57366685_F 2 chr11 57365777 57365778 CI084324 + 6 DM NULL SERPING1 Angioneurotic oedema CCTCCAGGCTGACCCTGCTGACCCTCCTGC[-/C]TGCTGCTGCTGGCTGGGGTATGTGGTCCCT 18586324 chr11 57365436 57365853 11000 1 SERPING1_chr11_57366352_57366685_F:SERPING1_chr11_57366352_57366685_F 2 chr11 57365783 57365792 CD087109 + 5 DM NULL SERPING1 Angioneurotic oedema AGGCTGACCCTGCTGACCCTCCTGCTGCTG[CTGCTGGCTG/-]GGGTATGTGGTCCCTTGTGGGATGGGGGAC 18758157 chr11 57365436 57365853 11000 1 SERPING1_chr11_57366352_57366685_F:SERPING1_chr11_57366352_57366685_F 2 chr11 57365792 57365793 CX131160 + 4 DM NULL SERPING1 Angioedema: hereditary CTGCTGACCCTCCTGCTGCTGCTGCTGGCT[G/TT]GGGTATGTGGTCCCTTGTGGGATGGGGGAC 23437219 chr11 57365436 57365853 11000 1 SERPING1_chr11_57366352_57366685_F:SERPING1_chr11_57366352_57366685_F 2 chr11 57365795 57365796 CS033511 + 2 DM NULL SERPING1 Angioneurotic oedema CTGACCCTCCTGCTGCTGCTGCTGGCTGGG[G/A]tatgtggtcccttgtgggatgggggacggg 14635117 chr11 57365436 57365853 11000 1 SERPING1_chr11_57366352_57366685_F:SERPING1_chr11_57366352_57366685_F 2 chr11 57365795 57365796 CS122540 + 2 DM NULL SERPING1 Angioneurotic oedema CTGACCCTCCTGCTGCTGCTGCTGGCTGGG[G/T]tatgtggtcccttgtgggatgggggacggg 21934598 chr11 57365436 57365853 11000 1 SERPING1_chr11_57366352_57366685_F:SERPING1_chr11_57366352_57366685_F 2 chr11 57365797 57365798 CS053487 + 2 DM NULL SERPING1 Angioneurotic oedema GACCCTCCTGCTGCTGCTGCTGGCTGGGgt[A/G]tgtggtcccttgtgggatgggggacggggg 15971231 chr11 57365436 57365853 11000 1 SERPING1_chr11_57366352_57366685_F:SERPING1_chr11_57366352_57366685_F 2 chr11 57365799 57365800 CS963018 + 2 DM NULL SERPING1 Angioneurotic oedema CCCTCCTGCTGCTGCTGCTGGCTGGGgtat[G/A]tggtcccttgtgggatgggggacgggggtg 8755917 chr11 57365436 57365853 11000 1 SERPING1_chr11_57366352_57366685_F:SERPING1_chr11_57366352_57366685_F 2 chr11 57365800 57365801 CS117776 + 2 DM NULL SERPING1 Angioedema: hereditary CCTCCTGCTGCTGCTGCTGGCTGGGgtatg[T/G]ggtcccttgtgggatgggggacgggggtgg 21864911 chr11 57366935 57366985 10000 2 SERPING1_chr11_57364526_57366719_F:SERPING1_chr11_57365204_57366719_F 2 . -1 -1 . -1 . . . . . . . chr11 60928415 60928484 10000 1 VPS37C_chr11_60930012_60930347_F:VPS37C_chr11_60931528_60932206_F:VPS37C_chr11_60932642_60932735_F 3 . -1 -1 . -1 . . . . . . . chr11 60929172 60929352 10000 2 VPS37C_chr11_60930012_60930347_F:VPS37C_chr11_60931528_60932206_F:VPS37C_chr11_60932642_60932735_F 3 . -1 -1 . -1 . . . . . . . chr11 61524293 61524412 11111 1 C11orf9_chr11_61519620_61524229_F 1 . -1 -1 . -1 . . . . . . . chr11 62623404 62623514 11101 1 SLC3A2_chr11_62625165_62625549_F 1 . -1 -1 . -1 . . . . . . . chr11 62624048 62624277 10000 1 SLC3A2_chr11_62625165_62625549_F 1 . -1 -1 . -1 . . . . . . . chr11 63270736 63270847 10000 1 LGALS12_chr11_63269910_63269971_F 1 . -1 -1 . -1 . . . . . . . chr11 63272439 63272729 10000 3 LGALS12_chr11_63269910_63269971_F 1 . -1 -1 . -1 . . . . . . . chr11 63304248 63304658 11000 1 RARRES3_chr11_63302695_63302884_F 1 . -1 -1 . -1 . . . . . . . chr11 63381064 63381233 10010 1 PLA2G16_chr11_63377789_63377920_F:PLA2G16_chr11_63377789_63377920_F 2 . -1 -1 . -1 . . . . . . . chr11 63381706 63382167 10110 1 PLA2G16_chr11_63377789_63377920_F:PLA2G16_chr11_63377789_63377920_F 2 . -1 -1 . -1 . . . . . . . chr11 63606040 63606163 11110 1 MARK2_chr11_63605376_63605474_F 1 . -1 -1 . -1 . . . . . . . chr11 64456083 64456248 10000 1 ATG2A_chr11_64661613_64661983_S 1 . -1 -1 . -1 . . . . . . . chr11 64661836 64661983 11111 1 ATG2A_chr11_64456083_64456501_S:ATG2A_chr11_65512221_65512800_S 2 . -1 -1 . -1 . . . . . . . chr11 65188529 65189282 11111 2 NEAT1_chr11_65297000_65297370_S 1 . -1 -1 . -1 . . . . . . . chr11 65189637 65189869 11111 1 NEAT1_chr11_65297000_65297370_S 1 . -1 -1 . -1 . . . . . . . chr11 65190111 65190284 11111 3 NEAT1_chr11_65297000_65297370_S 1 . -1 -1 . -1 . . . . . . . chr11 65264849 65265341 11111 2 MALAT1_chr11_65297000_65297370_S 1 . -1 -1 . -1 . . . . . . . chr11 65265976 65266668 11111 2 MALAT1_chr11_65297000_65297370_S 1 . -1 -1 . -1 . . . . . . . chr11 65297000 65297246 10000 2 MALAT1_chr11_65264646_65266747_S:NEAT1_chr11_65188457_65192525_S:SF1_chr11_64544943_64545500_S 3 . -1 -1 . -1 . . . . . . . chr11 65381582 65381913 11111 1 MAP3K11_chr11_65379476_65379605_F 1 . -1 -1 . -1 . . . . . . . chr11 65479369 65479495 11110 1 KAT5_chr11_66104200_66104296_S 1 . -1 -1 . -1 . . . . . . . chr11 65655955 65656065 11010 1 FIBP_chr11_66104200_66104296_S 1 . -1 -1 . -1 . . . . . . . chr11 66079697 66080234 10010 2 CD248_chr11_66104200_66104296_S 1 . -1 -1 . -1 . . . . . . . chr11 67035042 67035540 11110 3 ADRBK1_chr11_67037275_67037527_F 1 . -1 -1 . -1 . . . . . . . chr11 67120988 67121344 10111 1 POLD4_chr11_67121988_67122388_F 1 . -1 -1 . -1 . . . . . . . chr11 67122036 67122313 10011 2 POLD4_chr11_67120551_67122389_F:POLD4_chr11_67121988_67122388_F 2 . -1 -1 . -1 . . . . . . . chr11 67141537 67142043 10111 2 CLCF1_chr11_67142500_67143040_F:CLCF1_chr11_67143202_67143472_F 2 . -1 -1 . -1 . . . . . . . chr11 67867001 67867361 11111 3 SUV420H1_chr11_67979988_67981719_S 1 . -1 -1 . -1 . . . . . . . chr11 67981113 67981462 11100 1 SUV420H1_chr11_67866800_67867600_S:SUV420H1_chr11_68147310_68148400_S 2 . -1 -1 . -1 . . . . . . . chr11 68147936 68148133 11000 2 SUV420H1_chr11_67979988_67981719_S 1 . -1 -1 . -1 . . . . . . . chr11 68778552 68778714 10000 1 MRGPRF_chr11_68778461_68781350_F:MRGPRF_chr11_68778534_68778789_F 2 . -1 -1 . -1 . . . . . . . chr11 68819129 68819374 10000 1 TPCN2_chr11_68815849_68819423_F:TPCN2_chr11_68819125_68819319_F 2 . -1 -1 . -1 . . . . . . . chr11 69453782 69453957 11111 2 CCND1_chr11_69452524_69453230_F 1 . -1 -1 . -1 . . . . . . . chr11 69454655 69454814 10000 1 CCND1_chr11_69452524_69453230_F 1 . -1 -1 . -1 . . . . . . . chr11 69455848 69455967 11101 2 CCND1_chr11_69452524_69453230_F 1 . -1 -1 . -1 . . . . . . . chr11 69926986 69927188 10000 1 ANO1_chr11_69923907_69927298_F:ANO1_chr11_69927034_69927161_F 2 . -1 -1 . -1 . . . . . . . chr11 70245536 70245690 10000 1 CTTN_chr11_70244111_70245906_F:CTTN_chr11_70245269_70246141_F 2 . -1 -1 . -1 . . . . . . . chr11 70952415 70952710 11010 3 NADSYN1_chr11_71158852_71160243_S 1 . -1 -1 . -1 . . . . . . . chr11 71159304 71159508 11100 1 NADSYN1_chr11_70951776_70953059_S 1 . -1 -1 . -1 . . . . . . . chr11 72142146 72142158 11100 1 ENSG00000202522_chr11_72477143_72478007_S 1 . -1 -1 . -1 . . . . . . . chr11 72145599 72145765 11110 3 CLPB_chr11_73045664_73046030_S 1 . -1 -1 . -1 . . . . . . . chr11 72430355 72430529 10000 1 ARAP1_chr11_72429149_72429366_F:ARAP1_chr11_72430122_72433903_F:ARAP1_chr11_72430170_72430475_F 3 . -1 -1 . -1 . . . . . . . chr11 72477510 72477718 11000 2 ENSG00000202522_chr11_72141917_72142158_S:ENSG00000202522_chr11_73045664_73046030_S 2 . -1 -1 . -1 . . . . . . . chr11 72504686 72505298 11111 3 ARAP1_chr11_73045664_73046030_S 1 . -1 -1 . -1 . . . . . . . chr11 72524281 72524454 10000 1 ATG16L2_chr11_73045664_73046030_S 1 . -1 -1 . -1 . . . . . . . chr11 72853725 72853845 10100 1 FCHSD2_chr11_72854261_72854849_F 1 . -1 -1 . -1 . . . . . . . chr11 72854761 72854901 10100 1 FCHSD2_chr11_72852642_72854756_F 1 . -1 -1 . -1 . . . . . . . chr11 73018381 73018507 10000 1 ARHGEF17_chr11_73045664_73046030_S 1 . -1 -1 . -1 . . . . . . . chr11 73471285 73471448 10000 1 RAB6A_chr11_73045664_73046030_S 1 . -1 -1 . -1 . . . . . . . chr11 73472213 73472504 11111 2 RAB6A_chr11_73045664_73046030_S 1 . -1 -1 . -1 . . . . . . . chr11 73881998 73882444 11101 3 C2CD3_chr11_73045664_73046030_S 1 . -1 -1 . -1 . . . . . . . chr11 75060968 75061080 11000 1 ARRB1_chr11_75060807_75063375_F:ARRB1_chr11_75060875_75061139_F 2 . -1 -1 . -1 . . . . . . . chr11 75479759 75479872 10000 1 DGAT2_chr11_75482683_75483095_F 1 . -1 -1 . -1 . . . . . . . chr11 75482813 75482979 11111 1 DGAT2_chr11_75479277_75483090_F:DGAT2_chr11_75482683_75483095_F 2 . -1 -1 . -1 . . . . . . . chr11 75919862 75920056 11100 1 WNT11_chr11_75917073_75920270_F:WNT11_chr11_75919893_75920246_F 2 . -1 -1 . -1 . . . . . . . chr11 75920534 75920546 10110 1 WNT11_chr11_75917073_75920270_F 1 . -1 -1 . -1 . . . . . . . chr11 78129065 78129598 11100 1 GAB2_chr11_78130392_78130692_F:GAB2_chr11_78131805_78132171_F 2 . -1 -1 . -1 . . . . . . . chr11 78130367 78130723 10000 2 GAB2_chr11_78128367_78130743_F:GAB2_chr11_78130392_78130692_F:GAB2_chr11_78131805_78132171_F 3 . -1 -1 . -1 . . . . . . . chr11 83396881 83396995 10000 1 DLG2_chr11_83392967_83397139_F:DLG2_chr11_83396793_83397083_F 2 . -1 -1 . -1 . . . . . . . chr11 85522125 85522234 10101 1 SYTL2_chr11_85520282_85520495_F:SYTL2_chr11_85521123_85521272_F 2 . -1 -1 . -1 . . . . . . . chr11 87908290 87908440 10111 1 RAB38_chr11_87906798_87907204_F 1 . -1 -1 . -1 . . . . . . . chr11 88070843 88070984 11101 1 CTSC_chr11_88069705_88069944_F 1 chr11 88070895 88070896 CR1212541 - 3 DM NULL CTSC Papillon-Lefevre syndrome CGCGCGCCTCGTGGTGGACTCACCGCTAGC[C/A]CGCAGCGCTCGGCTTCCTGGTAATTCTTCA 23108224 chr11 93863944 93864107 10000 2 PANX1_chr11_93861593_93864212_F:PANX1_chr11_93863761_93864262_F 2 . -1 -1 . -1 . . . . . . . chr11 96075755 96075926 10000 1 MAML2_chr11_96071900_96072294_F:MAML2_chr11_96072423_96072630_F 2 . -1 -1 . -1 . . . . . . . chr11 102187843 102188234 11101 2 BIRC3_chr11_102189237_102189699_F:BIRC3_chr11_102189714_102190108_F 2 . -1 -1 . -1 . . . . . . . chr11 102188673 102188778 11000 1 BIRC3_chr11_102189237_102189699_F:BIRC3_chr11_102189714_102190108_F 2 . -1 -1 . -1 . . . . . . . chr11 102217436 102217537 11110 1 BIRC2_chr11_102216514_102216961_F 1 . -1 -1 . -1 . . . . . . . chr11 102217772 102217959 11101 1 BIRC2_chr11_102216514_102216961_F 1 . -1 -1 . -1 . . . . . . . chr11 102218304 102218466 11101 1 BIRC2_chr11_102216514_102216961_F 1 . -1 -1 . -1 . . . . . . . chr11 104839305 104839459 10000 2 CASP4_chr11_104838372_104838510_F 1 . -1 -1 . -1 . . . . . . . chr11 109963852 109964074 11000 1 ZC3H12C_chr11_109961258_109961641_F:ZC3H12C_chr11_109965770_109966113_F 2 . -1 -1 . -1 . . . . . . . chr11 109964932 109965124 11111 1 ZC3H12C_chr11_109965770_109966113_F 1 . -1 -1 . -1 . . . . . . . chr11 110581728 110582011 10000 2 ARHGAP20_chr11_110581634_110583951_F:ARHGAP20_chr11_110581726_110581943_F 2 . -1 -1 . -1 . . . . . . . chr11 110583617 110583815 11100 1 ARHGAP20_chr11_110581726_110581943_F 1 . -1 -1 . -1 . . . . . . . chr11 111230469 111231414 11110 4 ENSG00000086848_chr11_111749433_111750375_S:SIK2_chr11_111472723_111473781_S 2 . -1 -1 . -1 . . . . . . . chr11 111472878 111473055 11101 1 SIK2_chr11_111229685_111231581_S 1 . -1 -1 . -1 . . . . . . . chr11 111749433 111749885 11111 2 ENSG00000086848_chr11_111229685_111231581_S 1 . -1 -1 . -1 . . . . . . . chr11 112031856 112032065 11000 1 IL18_chr11_112031761_112035340_F:IL18_chr11_112031842_112032080_F 2 . -1 -1 . -1 . . . . . . . chr11 112033892 112034067 11000 2 IL18_chr11_112031842_112032080_F 1 . -1 -1 . -1 . . . . . . . chr11 115373417 115373612 11101 1 CADM1_chr11_115372753_115373113_F 1 . -1 -1 . -1 . . . . . . . chr11 115373883 115374042 11100 1 CADM1_chr11_115372753_115373113_F 1 . -1 -1 . -1 . . . . . . . chr11 116643717 116643849 11101 2 BUD13_chr11_116678444_116680468_S 1 . -1 -1 . -1 . . . . . . . chr11 116662096 116662206 10000 1 ZNF259_chr11_116678444_116680468_S:ZNF259_chr11_116696088_116696400_S 2 . -1 -1 . -1 . . . . . . . chr11 116663045 116663575 11111 3 ZNF259_chr11_116678444_116680468_S:ZNF259_chr11_116696088_116696400_S 2 . -1 -1 . -1 . . . . . . . chr11 116678746 116679910 11111 4 APOA1_chr11_116706649_116709199_S:APOC3_chr11_116699603_116700859_S:BUD13_chr11_116643202_116644202_S:SIK3_chr11_116967166_116967489_S:ZNF259_chr11_116661967_116663604_S 5 . -1 -1 . -1 . . . . . . . chr11 116680216 116680330 10111 1 APOA1_chr11_116706649_116709199_S:APOC3_chr11_116699603_116700859_S:BUD13_chr11_116643202_116644202_S:SIK3_chr11_116967166_116967489_S:ZNF259_chr11_116661967_116663604_S 5 . -1 -1 . -1 . . . . . . . chr11 116696910 116697225 11110 1 APOA4_chr11_116697562_116697929_F 1 . -1 -1 . -1 . . . . . . . chr11 116697509 116697866 11000 4 APOA4_chr11_116693510_116697946_F:APOA4_chr11_116697562_116697929_F:APOC3_chr11_116697545_116701124_F 3 . -1 -1 . -1 . . . . . . . chr11 116697545 116697866 11000 4 APOC3_chr11_116697562_116697929_F 1 . -1 -1 . -1 . . . . . . . chr11 116699703 116700007 11110 1 APOC3_chr11_116678444_116680468_S:APOC3_chr11_116696088_116696400_S:APOC3_chr11_116697562_116697929_F 3 chr11 116699984 116699985 CR061330 + 3 FP rs2542052 APOC3 Lower serum APOC3 level GCCCTTCTCCACCAACCCCTGCCCTACACT[A/C]AGGGGGAGGCAGCGGGGGGCACACAGGGTG 16602826 chr11 116700316 116700830 11110 2 APOC3_chr11_116678444_116680468_S:APOC3_chr11_116696088_116696400_S:APOC3_chr11_116697562_116697929_F 3 . -1 -1 . -1 . . . . . . . chr11 116708184 116708604 11110 3 APOA1_chr11_116678444_116680468_S 1 chr11 116708254 116708255 CR961720 - 3 DP rs5069 APOA1 Elevated HDL-cholesterol: association with CCAGCTCAAGGTTCAGGCCTTGCCCCAGGC[C/T]GGGCCTCTGGGTACCTGAGGTCTTCTCCCG 8647374 chr11 116708184 116708604 11110 3 APOA1_chr11_116678444_116680468_S 1 chr11 116708299 116708300 HR971651 - 3 DM NULL APOA1 Atherosclerosis with coronary artery disease GAGAAGGAGGTGCGTCCTGCTGCCTGCCCC[G/A]GTCACTCTGGCTCCCCAGCTCAAGGTTCAG HGOL chr11 116708184 116708604 11110 3 APOA1_chr11_116678444_116680468_S 1 chr11 116708365 116708366 CR991531 - 3 DM NULL APOA1 Apolipoprotein A1 deficiency CTCCCAGCCCAGACCCTGGCTGCAGACATA[A/C]ATAGGCCCTGCAAGAGCTGGCTGCTTAGAG 9974418 chr11 116708184 116708604 11110 3 APOA1_chr11_116678444_116680468_S 1 chr11 116708413 116708414 CR900263 - 3 DFP rs670 APOA1 Elevated serum APOA1: association with TTGCCAGGACCAGTGAGCAGCAACAGGGCC[G/A]GGGCTGGGCTTATCAGCCTCCCAGCCCAGA 1977072 chr11 116967166 116967484 10010 2 SIK3_chr11_116678444_116680468_S 1 . -1 -1 . -1 . . . . . . . chr11 117015877 117016043 11001 1 PAFAH1B2_chr11_117014499_117016157_F:PAFAH1B2_chr11_117015877_117016035_F 2 . -1 -1 . -1 . . . . . . . chr11 117049438 117049563 10010 1 SIDT2_chr11_117050933_117051273_F 1 . -1 -1 . -1 . . . . . . . chr11 117695658 117695806 10000 1 FXYD2_chr11_117693971_117694128_F 1 . -1 -1 . -1 . . . . . . . chr11 118082857 118083396 10010 3 UPK2_chr11_118796539_118796844_S 1 . -1 -1 . -1 . . . . . . . chr11 118755170 118755297 10000 1 CXCR5_chr11_118755477_118755626_F 1 . -1 -1 . -1 . . . . . . . chr11 118755177 118755297 10000 1 CXCR5_chr11_118753974_118755752_F 1 . -1 -1 . -1 . . . . . . . chr11 118755711 118755752 10000 1 CXCR5_chr11_118755477_118755626_F 1 . -1 -1 . -1 . . . . . . . chr11 118755711 118755874 10000 1 CXCR5_chr11_118753974_118755752_F 1 . -1 -1 . -1 . . . . . . . chr11 118782074 118782258 11111 1 BCL9L_chr11_118782911_118783378_F 1 . -1 -1 . -1 . . . . . . . chr11 120081428 120081878 11100 1 OAF_chr11_120083069_120083545_F 1 . -1 -1 . -1 . . . . . . . chr11 120083350 120083508 10110 1 OAF_chr11_120083069_120083545_F 1 . -1 -1 . -1 . . . . . . . chr11 120083350 120083561 10110 1 OAF_chr11_120081246_120083508_F 1 . -1 -1 . -1 . . . . . . . chr11 121321810 121322536 10000 3 SORL1_chr11_121321006_121321403_F 1 . -1 -1 . -1 . . . . . . . chr11 121322411 121322536 10000 3 SORL1_chr11_121324755_121324861_F 1 . -1 -1 . -1 . . . . . . . chr11 121322964 121323083 10100 1 SORL1_chr11_121321006_121321403_F:SORL1_chr11_121324755_121324861_F 2 . -1 -1 . -1 . . . . . . . chr11 121323413 121323618 11010 1 SORL1_chr11_121324755_121324861_F 1 . -1 -1 . -1 . . . . . . . chr11 121324341 121324653 11010 2 SORL1_chr11_121324755_121324861_F 1 . -1 -1 . -1 . . . . . . . chr11 121324455 121324653 11010 2 SORL1_chr11_121322411_121325009_F 1 . -1 -1 . -1 . . . . . . . chr11 123985958 123986166 10000 1 VWA5A_chr11_123984777_123984974_F 1 . -1 -1 . -1 . . . . . . . chr11 126173822 126173967 11000 1 DCPS_chr11_126175725_126175882_F 1 . -1 -1 . -1 . . . . . . . chr11 128392183 128392323 11100 1 ETS1_chr11_128387749_128388099_F:ETS1_chr11_128388897_128389626_F:ETS1_chr11_128392930_128393222_F 3 . -1 -1 . -1 . . . . . . . chr11 134123293 134123454 10000 1 THYN1_chr11_134124453_134124658_F 1 . -1 -1 . -1 . . . . . . . chr12 321954 322060 10000 2 SLC6A12_chr12_321469_323113_F:SLC6A12_chr12_321469_323363_F:SLC6A12_chr12_321469_323871_F 3 . -1 -1 . -1 . . . . . . . chr12 321954 322234 10000 2 SLC6A12_chr12_321578_321760_F:SLC6A12_chr12_321578_321760_F:SLC6A12_chr12_321578_321760_F 3 . -1 -1 . -1 . . . . . . . chr12 322788 323017 10000 1 SLC6A12_chr12_321578_321760_F:SLC6A12_chr12_321578_321760_F:SLC6A12_chr12_321578_321760_F 3 . -1 -1 . -1 . . . . . . . chr12 323222 323363 10000 2 SLC6A12_chr12_321578_321760_F 1 . -1 -1 . -1 . . . . . . . chr12 323222 323489 10000 2 SLC6A12_chr12_321578_321760_F 1 . -1 -1 . -1 . . . . . . . chr12 860412 860602 10101 1 WNK1_chr12_860254_860664_F:WNK1_chr12_860259_862589_F 2 . -1 -1 . -1 . . . . . . . chr12 861007 861630 10101 2 WNK1_chr12_860254_860664_F 1 . -1 -1 . -1 . . . . . . . chr12 1058282 1058456 10000 1 RAD52_chr12_83400_85687_S 1 . -1 -1 . -1 . . . . . . . chr12 1058812 1059180 11000 1 RAD52_chr12_83400_85687_S 1 . -1 -1 . -1 . . . . . . . chr12 3982519 3982625 10000 1 PARP11_chr12_3979182_3979441_F 1 . -1 -1 . -1 . . . . . . . chr12 4382876 4382990 11000 1 CCND2_chr12_4378284_4379414_F:CCND2_chr12_4380607_4381576_F 2 . -1 -1 . -1 . . . . . . . chr12 5542145 5542600 10101 3 NTF3_chr12_5542952_5543350_F 1 . -1 -1 . -1 . . . . . . . chr12 6451118 6451378 11101 2 TNFRSF1A_chr12_6454526_6454970_F:TNFRSF1A_chr12_6455086_6455266_F 2 . -1 -1 . -1 . . . . . . . chr12 6532987 6533085 11101 1 ENSG00000111676_chr12_7052400_7054091_S 1 . -1 -1 . -1 . . . . . . . chr12 6665234 6665457 11101 1 IFFO1_chr12_6663248_6663743_F 1 . -1 -1 . -1 . . . . . . . chr12 6713889 6714068 11100 1 CHD4_chr12_6713705_6717051_F:CHD4_chr12_6713710_6714101_F 2 . -1 -1 . -1 . . . . . . . chr12 6875239 6875585 11101 1 PTMS_chr12_6873427_6873901_F 1 . -1 -1 . -1 . . . . . . . chr12 6961659 6961769 11101 1 USP5_chr12_6962211_6962407_F:USP5_chr12_6962211_6962407_F 2 . -1 -1 . -1 . . . . . . . chr12 6982484 6982620 11000 1 ENSG00000010626_chr12_6963200_6963670_S 1 . -1 -1 . -1 . . . . . . . chr12 7000151 7000482 11100 2 ENSG00000111671_chr12_7341000_7341197_S 1 . -1 -1 . -1 . . . . . . . chr12 7035030 7035138 10101 2 ATN1_chr12_7034584_7037980_F 1 . -1 -1 . -1 . . . . . . . chr12 7035030 7035464 10101 2 ATN1_chr12_7034730_7034838_F 1 . -1 -1 . -1 . . . . . . . chr12 7053011 7053132 11100 1 ENSG00000111676_chr12_6394380_6394668_S:ENSG00000111676_chr12_6532987_6533355_S:ENSG00000111676_chr12_7244365_7245225_S:ENSG00000111676_chr12_7341000_7341197_S 4 . -1 -1 . -1 . . . . . . . chr12 7167938 7167969 11000 4 ENSG00000182326_chr12_8059984_8060166_S 1 . -1 -1 . -1 . . . . . . . chr12 7244365 7244574 10000 2 ENSG00000111676_chr12_7052400_7054091_S 1 . -1 -1 . -1 . . . . . . . chr12 7244827 7245223 10000 2 ENSG00000111676_chr12_7052400_7054091_S 1 . -1 -1 . -1 . . . . . . . chr12 8059777 8059798 10000 3 PEX5_chr12_7341197_7341366_S 1 . -1 -1 . -1 . . . . . . . chr12 9266603 9266855 11000 3 A2M_chr12_9284434_9285369_S 1 . -1 -1 . -1 . . . . . . . chr12 9284708 9285105 11000 3 A2M_chr12_9266583_9266888_S 1 . -1 -1 . -1 . . . . . . . chr12 10281279 10281454 11100 1 CLEC7A_chr12_10281058_10281708_F:CLEC7A_chr12_10281183_10283368_F 2 . -1 -1 . -1 . . . . . . . chr12 11802521 11802722 10000 2 ETV6_chr12_11806275_11806670_F 1 . -1 -1 . -1 . . . . . . . chr12 11803644 11803942 11101 4 ETV6_chr12_11806275_11806670_F 1 . -1 -1 . -1 . . . . . . . chr12 12503149 12503262 11000 1 MANSC1_chr12_12504083_12504386_F 1 . -1 -1 . -1 . . . . . . . chr12 12503963 12504435 10000 2 MANSC1_chr12_12504083_12504386_F 1 . -1 -1 . -1 . . . . . . . chr12 12503963 12504436 10000 2 MANSC1_chr12_12502668_12504435_F 1 . -1 -1 . -1 . . . . . . . chr12 12714024 12714256 11000 2 DUSP16_chr12_12711400_12711706_F 1 . -1 -1 . -1 . . . . . . . chr12 12714542 12714714 11000 1 DUSP16_chr12_12711400_12711706_F 1 . -1 -1 . -1 . . . . . . . chr12 12715539 12715948 11000 1 DUSP16_chr12_12711400_12711706_F 1 . -1 -1 . -1 . . . . . . . chr12 12764578 12764938 11101 3 CREBL2_chr12_12766295_12766634_F 1 . -1 -1 . -1 . . . . . . . chr12 12765474 12765609 10000 1 CREBL2_chr12_12766295_12766634_F 1 . -1 -1 . -1 . . . . . . . chr12 12869991 12870309 11101 2 CDKN1B_chr12_12872470_12873013_F 1 . -1 -1 . -1 . . . . . . . chr12 14994737 14995068 11000 2 ART4_chr12_14994687_14996913_F:ART4_chr12_14994752_14995023_F 2 . -1 -1 . -1 . . . . . . . chr12 14995363 14995517 11000 2 ART4_chr12_14994752_14995023_F 1 . -1 -1 . -1 . . . . . . . chr12 14996446 14996777 10000 1 ART4_chr12_14994752_14995023_F 1 . -1 -1 . -1 . . . . . . . chr12 25205479 25205691 10000 2 LRMP_chr12_25207728_25208290_F:LRMP_chr12_25209428_25209438_F 2 . -1 -1 . -1 . . . . . . . chr12 25403842 25404354 11100 3 KRAS_chr12_25402760_25403150_F 1 . -1 -1 . -1 . . . . . . . chr12 27677025 27677573 11101 3 PPFIBP1_chr12_27678444_27678624_F 1 . -1 -1 . -1 . . . . . . . chr12 28126436 28126550 11000 1 PTHLH_chr12_28122393_28126849_F:PTHLH_chr12_28124415_28126849_F:PTHLH_chr12_28126453_28126843_F:PTHLH_chr12_28126453_28126843_F:PTHLH_chr12_28127967_28128359_F:PTHLH_chr12_28128658_28128812_F 6 . -1 -1 . -1 . . . . . . . chr12 33048709 33048930 11101 2 PKP2_chr12_33048562_33050280_F:PKP2_chr12_33048688_33048837_F 2 . -1 -1 . -1 . . . . . . . chr12 33050053 33050280 11000 2 PKP2_chr12_33048688_33048837_F 1 . -1 -1 . -1 . . . . . . . chr12 42984122 42984261 10000 1 PRICKLE1_chr12_42984702_42985091_F 1 . -1 -1 . -1 . . . . . . . chr12 46383547 46383854 11000 1 SCAF11_chr12_46380247_46380714_F:SCAF11_chr12_46381876_46382270_F 2 . -1 -1 . -1 . . . . . . . chr12 46384367 46384871 11000 1 SCAF11_chr12_46380247_46380714_F:SCAF11_chr12_46381876_46382270_F 2 . -1 -1 . -1 . . . . . . . chr12 46765759 46765951 11101 2 SLC38A2_chr12_46119600_46119800_S:SLC38A2_chr12_46867053_46868247_S:SLC38A2_chr12_46887600_46888613_S 3 . -1 -1 . -1 . . . . . . . chr12 46766552 46766706 11101 1 SLC38A2_chr12_46119600_46119800_S:SLC38A2_chr12_46867053_46868247_S:SLC38A2_chr12_46887600_46888613_S 3 . -1 -1 . -1 . . . . . . . chr12 46867394 46867752 11100 3 SLC38A2_chr12_46764813_46767783_S 1 . -1 -1 . -1 . . . . . . . chr12 46887675 46887932 11100 1 SLC38A2_chr12_46764813_46767783_S 1 . -1 -1 . -1 . . . . . . . chr12 47606188 47606471 10000 2 FAM113B_chr12_47606000_47610552_F:FAM113B_chr12_47606052_47606349_F 2 . -1 -1 . -1 . . . . . . . chr12 47613107 47613325 10000 1 FAM113B_chr12_47613849_47614234_F 1 . -1 -1 . -1 . . . . . . . chr12 48294427 48294550 10000 1 VDR_chr12_48294356_48299314_F:VDR_chr12_48294417_48294695_F 2 . -1 -1 . -1 . . . . . . . chr12 48298962 48299072 10000 1 VDR_chr12_48294417_48294695_F:VDR_chr12_48297772_48297979_F 2 . -1 -1 . -1 . . . . . . . chr12 49738729 49739002 11101 1 DNAJC22_chr12_49739011_49741541_F 1 . -1 -1 . -1 . . . . . . . chr12 49740454 49740576 10100 1 DNAJC22_chr12_49739029_49739393_F 1 . -1 -1 . -1 . . . . . . . chr12 50222286 50222401 10100 1 NCKAP5L_chr12_50221084_50221421_F 1 . -1 -1 . -1 . . . . . . . chr12 52417539 52417640 10001 1 NR4A1_chr12_52418719_52418897_F:NR4A1_chr12_52419301_52419935_F 2 . -1 -1 . -1 . . . . . . . chr12 53278291 53278554 10000 3 IGFBP6_chr12_53493221_53493397_S:KRT8_chr12_53297052_53299224_S 2 . -1 -1 . -1 . . . . . . . chr12 53297746 53298006 10101 2 KRT8_chr12_52414400_52414649_S:KRT8_chr12_52460600_52461200_S:KRT8_chr12_53273972_53274400_S:KRT8_chr12_53277984_53278971_S:KRT8_chr12_53374890_53375000_S:KRT8_chr12_53405400_53406200_S:KRT8_chr12_53455094_53455869_S:KRT8_chr12_53568800_53569350_S:KRT8_chr12_53932007_53932689_S 9 . -1 -1 . -1 . . . . . . . chr12 53298780 53299103 10101 1 KRT8_chr12_52414400_52414649_S:KRT8_chr12_52460600_52461200_S:KRT8_chr12_53273972_53274400_S:KRT8_chr12_53277984_53278971_S:KRT8_chr12_53301815_53302147_F:KRT8_chr12_53374890_53375000_S:KRT8_chr12_53405400_53406200_S:KRT8_chr12_53455094_53455869_S:KRT8_chr12_53568800_53569350_S:KRT8_chr12_53932007_53932689_S 10 . -1 -1 . -1 . . . . . . . chr12 53301910 53302182 10000 1 KRT8_chr12_53301815_53302147_F 1 . -1 -1 . -1 . . . . . . . chr12 53301910 53302208 10000 1 KRT8_chr12_53298367_53302182_F 1 . -1 -1 . -1 . . . . . . . chr12 53321153 53321426 11000 2 KRT8_chr12_53374890_53375000_S 1 . -1 -1 . -1 . . . . . . . chr12 53339725 53339857 11000 3 KRT18_chr12_53339251_53343155_F:KRT18_chr12_53339251_53343343_F 2 . -1 -1 . -1 . . . . . . . chr12 53339725 53339944 11000 3 KRT18_chr12_53338460_53338676_F:KRT18_chr12_53338460_53338676_F:KRT18_chr12_53339346_53339557_F:KRT18_chr12_53339346_53339557_F 4 . -1 -1 . -1 . . . . . . . chr12 53340742 53340955 11000 3 KRT18_chr12_53338460_53338676_F:KRT18_chr12_53338460_53338676_F:KRT18_chr12_53339346_53339557_F:KRT18_chr12_53339346_53339557_F 4 . -1 -1 . -1 . . . . . . . chr12 53342595 53342884 00000 1 KRT18_chr12_53338460_53338676_F:KRT18_chr12_53338460_53338676_F:KRT18_chr12_53339346_53339557_F:KRT18_chr12_53339346_53339557_F 4 . -1 -1 . -1 . . . . . . . chr12 53405711 53406084 10000 3 KRT8_chr12_53297052_53299224_S 1 . -1 -1 . -1 . . . . . . . chr12 53442329 53442469 10000 1 TENC1_chr12_53445016_53445392_F 1 . -1 -1 . -1 . . . . . . . chr12 53443430 53443921 11000 1 TENC1_chr12_53445016_53445392_F:TENC1_chr12_53445016_53445392_F 2 . -1 -1 . -1 . . . . . . . chr12 53444964 53445405 11000 3 TENC1_chr12_53445016_53445392_F:TENC1_chr12_53445016_53445392_F 2 . -1 -1 . -1 . . . . . . . chr12 53444964 53445692 11000 3 TENC1_chr12_53442232_53445405_F:TENC1_chr12_53443334_53445405_F 2 . -1 -1 . -1 . . . . . . . chr12 53455230 53455537 11000 2 KRT8_chr12_53297052_53299224_S 1 . -1 -1 . -1 . . . . . . . chr12 53568800 53568929 11101 4 ENSG00000257808_chr12_53553428_53553567_S:IGFBP6_chr12_53493221_53493397_S:KRT8_chr12_53297052_53299224_S 3 . -1 -1 . -1 . . . . . . . chr12 53845588 53845847 11101 2 PCBP2_chr12_53374890_53375000_S 1 . -1 -1 . -1 . . . . . . . chr12 53932007 53932565 11001 3 KRT8_chr12_53297052_53299224_S 1 . -1 -1 . -1 . . . . . . . chr12 54069813 54070015 10100 2 ATP5G2_chr12_53374890_53375000_S 1 . -1 -1 . -1 . . . . . . . chr12 54070011 54070134 10100 2 ATP5G2_chr12_54072437_54072838_F 1 . -1 -1 . -1 . . . . . . . chr12 54698021 54698236 10101 3 NFE2_chr12_54694290_54698503_F:NFE2_chr12_54698103_54698502_F 2 . -1 -1 . -1 . . . . . . . chr12 54756912 54757114 11000 1 GPR84_chr12_54754477_54754933_F 1 . -1 -1 . -1 . . . . . . . chr12 54810127 54810515 11000 1 ITGA5_chr12_54810625_54813550_F 1 . -1 -1 . -1 . . . . . . . chr12 54811124 54811308 11000 1 ITGA5_chr12_54810296_54811355_F:ITGA5_chr12_54810625_54813550_F 2 . -1 -1 . -1 . . . . . . . chr12 54812968 54813152 11000 1 ITGA5_chr12_54810296_54811355_F:ITGA5_chr12_54815757_54815842_F:ITGA5_chr12_54817026_54817278_F 3 . -1 -1 . -1 . . . . . . . chr12 54943052 54943200 11000 1 PDE1B_chr12_54941805_54942012_F 1 . -1 -1 . -1 . . . . . . . chr12 56114048 56114324 11111 1 ERBB3_chr12_56472775_56476127_S 1 . -1 -1 . -1 . . . . . . . chr12 56114708 56114862 11011 3 ERBB3_chr12_56472775_56476127_S 1 . -1 -1 . -1 . . . . . . . chr12 56360230 56360346 11110 2 PMEL_chr12_56356198_56356265_F 1 . -1 -1 . -1 . . . . . . . chr12 56435509 56435833 11010 1 RPS26_chr12_57030800_57031327_S 1 . -1 -1 . -1 . . . . . . . chr12 56473727 56473949 11000 2 ERBB3_chr12_55893043_55893800_S:ERBB3_chr12_56113704_56114862_S:ERBB3_chr12_56131238_56131600_S:ERBB3_chr12_56132600_56132728_S:ERBB3_chr12_56390136_56390200_S:ERBB3_chr12_56474601_56474862_F:ERBB3_chr12_56474601_56474862_F:ERBB3_chr12_56513433_56513713_S:ERBB3_chr12_56696400_56696413_S:ERBB3_chr12_57030800_57031327_S 10 . -1 -1 . -1 . . . . . . . chr12 56474598 56474893 11000 3 ERBB3_chr12_55893043_55893800_S:ERBB3_chr12_56113704_56114862_S:ERBB3_chr12_56131238_56131600_S:ERBB3_chr12_56132600_56132728_S:ERBB3_chr12_56390136_56390200_S:ERBB3_chr12_56473308_56474932_F:ERBB3_chr12_56473391_56474932_F:ERBB3_chr12_56474601_56474862_F:ERBB3_chr12_56474601_56474862_F:ERBB3_chr12_56513433_56513713_S:ERBB3_chr12_56696400_56696413_S:ERBB3_chr12_57030800_57031327_S 12 . -1 -1 . -1 . . . . . . . chr12 56475685 56475913 11000 3 ERBB3_chr12_55893043_55893800_S:ERBB3_chr12_56113704_56114862_S:ERBB3_chr12_56131238_56131600_S:ERBB3_chr12_56132600_56132728_S:ERBB3_chr12_56390136_56390200_S:ERBB3_chr12_56513433_56513713_S:ERBB3_chr12_56696400_56696413_S:ERBB3_chr12_57030800_57031327_S 8 . -1 -1 . -1 . . . . . . . chr12 56513433 56513544 10000 2 ERBB3_chr12_56472775_56476127_S 1 . -1 -1 . -1 . . . . . . . chr12 56551521 56551726 10101 1 MYL6_chr12_57030800_57031327_S 1 . -1 -1 . -1 . . . . . . . chr12 56551963 56552171 11100 1 MYL6_chr12_57030800_57031327_S 1 . -1 -1 . -1 . . . . . . . chr12 56727784 56727943 10000 1 PAN2_chr12_56731526_56731745_F:PAN2_chr12_56731526_56731745_F 2 . -1 -1 . -1 . . . . . . . chr12 56731539 56731770 10000 1 IL23A_chr12_56731435_56733163_F:IL23A_chr12_56731526_56731745_F:PAN2_chr12_56727032_56731836_F:PAN2_chr12_56727336_56731836_F:PAN2_chr12_56731526_56731745_F:PAN2_chr12_56731526_56731745_F 6 . -1 -1 . -1 . . . . . . . chr12 56753076 56753232 10000 1 STAT2_chr12_56752555_56754537_F 1 . -1 -1 . -1 . . . . . . . chr12 56753076 56753247 10000 1 STAT2_chr12_56752579_56752932_F 1 . -1 -1 . -1 . . . . . . . chr12 56753850 56754537 11000 2 STAT2_chr12_56752579_56752932_F 1 . -1 -1 . -1 . . . . . . . chr12 57030800 57030988 11010 1 ERBB3_chr12_56472775_56476127_S:LRP1_chr12_57521011_57522426_S:MYL6_chr12_56551334_56552615_S:RPS26_chr12_56435310_56436339_S:STAT6_chr12_57504082_57506455_S 5 . -1 -1 . -1 . . . . . . . chr12 57504176 57504381 10111 2 STAT6_chr12_57030800_57031327_S:STAT6_chr12_57762091_57762600_S 2 . -1 -1 . -1 . . . . . . . chr12 57505138 57505252 10111 1 STAT6_chr12_57030800_57031327_S:STAT6_chr12_57762091_57762600_S 2 . -1 -1 . -1 . . . . . . . chr12 57505872 57506263 11101 3 STAT6_chr12_57030800_57031327_S:STAT6_chr12_57762091_57762600_S 2 . -1 -1 . -1 . . . . . . . chr12 57521011 57522224 11111 2 LRP1_chr12_56696400_56696413_S:LRP1_chr12_57030800_57031327_S:LRP1_chr12_57762091_57762600_S:LRP1_chr12_57853600_57856493_S 4 . -1 -1 . -1 . . . . . . . chr12 57521781 57522224 11111 2 LRP1_chr12_57523550_57524188_F 1 . -1 -1 . -1 . . . . . . . chr12 57523855 57524070 10111 1 LRP1_chr12_57523550_57524188_F 1 . -1 -1 . -1 . . . . . . . chr12 57523855 57524113 10111 1 LRP1_chr12_57521781_57524070_F 1 . -1 -1 . -1 . . . . . . . chr12 57634389 57634558 10000 1 NDUFA4L2_chr12_57635972_57636429_F 1 . -1 -1 . -1 . . . . . . . chr12 57762294 57762600 11010 2 LRP1_chr12_57521011_57522426_S:STAT6_chr12_57504082_57506455_S 2 . -1 -1 . -1 . . . . . . . chr12 57855189 57855318 10101 1 LRP1_chr12_57521011_57522426_S:TSFM_chr12_58176320_58176991_S 2 . -1 -1 . -1 . . . . . . . chr12 58165552 58166010 11000 3 METTL1_chr12_58168960_58169095_F 1 . -1 -1 . -1 . . . . . . . chr12 58165882 58166010 11000 3 METTL21B_chr12_58168960_58169095_F 1 . -1 -1 . -1 . . . . . . . chr12 58166282 58166432 11000 1 METTL1_chr12_58168960_58169095_F:METTL21B_chr12_58168960_58169095_F 2 . -1 -1 . -1 . . . . . . . chr12 58176400 58176647 11000 1 TSFM_chr12_57853600_57856493_S:TSFM_chr12_59159396_59160728_S 2 . -1 -1 . -1 . . . . . . . chr12 58238518 58238692 11000 2 CTDSP2_chr12_58238225_58238735_F:CTDSP2_chr12_58238280_58241247_F 2 . -1 -1 . -1 . . . . . . . chr12 58239288 58239756 11110 3 CTDSP2_chr12_58238225_58238735_F 1 . -1 -1 . -1 . . . . . . . chr12 58240467 58240664 11000 1 CTDSP2_chr12_58238225_58238735_F 1 . -1 -1 . -1 . . . . . . . chr12 59159507 59160127 11000 4 TSFM_chr12_58176320_58176991_S 1 . -1 -1 . -1 . . . . . . . chr12 59160391 59160533 10000 1 TSFM_chr12_58176320_58176991_S 1 . -1 -1 . -1 . . . . . . . chr12 59310632 59310800 10111 1 LRIG3_chr12_59310665_59313827_F:LRIG3_chr12_59310665_59314762_F 2 . -1 -1 . -1 . . . . . . . chr12 59310665 59310800 10111 1 LRIG3_chr12_59310774_59310957_F:LRIG3_chr12_59310774_59310957_F 2 . -1 -1 . -1 . . . . . . . chr12 59312979 59313144 11100 1 LRIG3_chr12_59310774_59310957_F:LRIG3_chr12_59310774_59310957_F 2 . -1 -1 . -1 . . . . . . . chr12 62654006 62654560 11101 1 USP15_chr12_62650628_62651393_F 1 . -1 -1 . -1 . . . . . . . chr12 66695865 66696382 11101 2 HELB_chr12_66697484_66697842_F 1 . -1 -1 . -1 . . . . . . . chr12 69004118 69004160 10100 2 RAP1B_chr12_69006143_69006530_F 1 . -1 -1 . -1 . . . . . . . chr12 69201608 69201809 00000 2 MDM2_chr12_69200663_69200867_F 1 chr12 69201797 69201798 CR082025 + 3 DFP rs937282 MDM2 Bladder cancer: increased risk: association with GCTCGCGGCCAACACCCCCACCCCGCCTCA[C/G]AGCCCGCCGCGCCCGCGGGGCGACACCCCC 18519798 chr12 69202456 69202471 11111 2 MDM2_chr12_69200663_69200867_F 1 . -1 -1 . -1 . . . . . . . chr12 69357036 69357429 10000 1 CPM_chr12_69358211_69358538_F 1 . -1 -1 . -1 . . . . . . . chr12 69633185 69633399 11101 2 CPSF6_chr12_69634325_69634686_F 1 . -1 -1 . -1 . . . . . . . chr12 69864007 69864187 11100 2 FRS2_chr12_69868200_69868446_F 1 . -1 -1 . -1 . . . . . . . chr12 69864765 69865210 11110 1 FRS2_chr12_69868200_69868446_F 1 . -1 -1 . -1 . . . . . . . chr12 70636503 70636678 11001 2 CNOT2_chr12_70634012_70634396_F:CNOT2_chr12_70634012_70634396_F:CNOT2_chr12_70634012_70634396_F 3 . -1 -1 . -1 . . . . . . . chr12 70637086 70637274 11111 1 CNOT2_chr12_70634012_70634396_F 1 . -1 -1 . -1 . . . . . . . chr12 70637086 70637281 11111 1 CNOT2_chr12_70634012_70634396_F:CNOT2_chr12_70634012_70634396_F 2 . -1 -1 . -1 . . . . . . . chr12 71551860 71551985 10000 1 TSPAN8_chr12_71555404_71555561_F 1 . -1 -1 . -1 . . . . . . . chr12 71552507 71552685 10000 1 TSPAN8_chr12_71555404_71555561_F 1 . -1 -1 . -1 . . . . . . . chr12 71553183 71553422 10000 2 TSPAN8_chr12_71555404_71555561_F 1 . -1 -1 . -1 . . . . . . . chr12 75872287 75872424 10000 1 GLIPR1_chr12_75872187_75875013_F:GLIPR1_chr12_75872211_75872563_F 2 . -1 -1 . -1 . . . . . . . chr12 75874384 75874601 10000 1 GLIPR1_chr12_75872211_75872563_F:GLIPR1_chr12_75877380_75877665_F 2 . -1 -1 . -1 . . . . . . . chr12 75902038 75902215 10000 1 KRR1_chr12_75900907_75901415_F 1 . -1 -1 . -1 . . . . . . . chr12 75902159 75902215 10000 1 KRR1_chr12_75902457_75905918_F 1 . -1 -1 . -1 . . . . . . . chr12 75905408 75905586 11111 1 KRR1_chr12_75900907_75901415_F:KRR1_chr12_75902459_75902855_F 2 . -1 -1 . -1 . . . . . . . chr12 76953479 76953735 11000 2 OSBPL8_chr12_76949947_76950382_F 1 . -1 -1 . -1 . . . . . . . chr12 85674534 85674755 10000 1 ALX1_chr12_85673535_85675038_F:ALX1_chr12_85674653_85675022_F 2 . -1 -1 . -1 . . . . . . . chr12 89746288 89747264 11111 4 DUSP6_chr12_89739400_89739414_S:DUSP6_chr12_89739511_89739744_S:DUSP6_chr12_89739967_89740000_S 3 . -1 -1 . -1 . . . . . . . chr12 89747697 89747837 11101 1 DUSP6_chr12_89739400_89739414_S:DUSP6_chr12_89739511_89739744_S:DUSP6_chr12_89739967_89740000_S 3 . -1 -1 . -1 . . . . . . . chr12 89748657 89748784 11000 1 DUSP6_chr12_89739400_89739414_S:DUSP6_chr12_89739511_89739744_S:DUSP6_chr12_89739967_89740000_S 3 . -1 -1 . -1 . . . . . . . chr12 93321540 93321785 10110 1 EEA1_chr12_93320988_93321201_F:EEA1_chr12_93321488_93323607_F:EEA1_chr12_93321551_93321826_F 3 . -1 -1 . -1 . . . . . . . chr12 93770852 93770875 10010 2 NUDT4_chr12_93770252_93772201_F 1 . -1 -1 . -1 . . . . . . . chr12 93770852 93771337 10010 2 NUDT4_chr12_93770329_93770575_F 1 . -1 -1 . -1 . . . . . . . chr12 93771615 93771977 10000 1 NUDT4_chr12_93770329_93770575_F 1 . -1 -1 . -1 . . . . . . . chr12 94545384 94545755 10000 1 PLXNC1_chr12_94541998_94545965_F:PLXNC1_chr12_94545578_94545950_F:PLXNC1_chr12_94546167_94546575_F 3 . -1 -1 . -1 . . . . . . . chr12 94546116 94546250 10000 4 PLXNC1_chr12_94541998_94545965_F 1 . -1 -1 . -1 . . . . . . . chr12 94546116 94546303 10000 4 PLXNC1_chr12_94541998_94546572_F:PLXNC1_chr12_94546167_94546575_F 2 . -1 -1 . -1 . . . . . . . chr12 94546584 94546805 10000 2 PLXNC1_chr12_94541998_94546572_F 1 . -1 -1 . -1 . . . . . . . chr12 95042944 95043113 11111 2 TMCC3_chr12_95042993_95044824_F 1 . -1 -1 . -1 . . . . . . . chr12 95042993 95043113 11111 2 TMCC3_chr12_95043067_95043319_F 1 . -1 -1 . -1 . . . . . . . chr12 95611190 95611300 11100 1 FGD6_chr12_95609786_95609977_F 1 . -1 -1 . -1 . . . . . . . chr12 96588141 96588307 10000 1 ELK3_chr12_96589359_96589977_F 1 . -1 -1 . -1 . . . . . . . chr12 96793942 96794052 11100 1 CDK17_chr12_96794959_96795305_F 1 . -1 -1 . -1 . . . . . . . chr12 102271128 102271464 10000 2 DRAM1_chr12_102269445_102269658_F 1 . -1 -1 . -1 . . . . . . . chr12 105324556 105324672 10000 1 SLC41A2_chr12_105321971_105324782_F:SLC41A2_chr12_105324484_105324678_F 2 . -1 -1 . -1 . . . . . . . chr12 107381025 107381153 11100 1 MTERFD3_chr12_107377522_107377900_F 1 . -1 -1 . -1 . . . . . . . chr12 109058352 109058722 11101 2 MYO1H_chr12_109825399_109825491_S:UNG_chr12_109531098_109531493_S 2 . -1 -1 . -1 . . . . . . . chr12 109248068 109248256 11000 1 SSH1_chr12_109248132_109251859_F 1 . -1 -1 . -1 . . . . . . . chr12 109248132 109248256 11000 1 SSH1_chr12_109248007_109248657_F 1 . -1 -1 . -1 . . . . . . . chr12 109251471 109251653 10100 2 SSH1_chr12_109248007_109248657_F:SSH1_chr12_109249389_109249909_F 2 . -1 -1 . -1 . . . . . . . chr12 109531241 109531359 10000 1 UNG_chr12_109058180_109058722_S:UNG_chr12_110476800_110477400_S 2 . -1 -1 . -1 . . . . . . . chr12 110476926 110477178 10000 2 UNG_chr12_109531098_109531493_S 1 . -1 -1 . -1 . . . . . . . chr12 111019612 111019792 11000 1 PPTC7_chr12_111019861_111021564_F 1 . -1 -1 . -1 . . . . . . . chr12 111020256 111020549 11000 1 PPTC7_chr12_111019861_111021564_F 1 . -1 -1 . -1 . . . . . . . chr12 111020256 111020564 11000 1 PPTC7_chr12_111019873_111020249_F 1 . -1 -1 . -1 . . . . . . . chr12 111020563 111020564 11000 1 PPTC7_chr12_111023118_111023488_F 1 . -1 -1 . -1 . . . . . . . chr12 111021073 111021341 11000 1 PPTC7_chr12_111019873_111020249_F:PPTC7_chr12_111023118_111023488_F 2 . -1 -1 . -1 . . . . . . . chr12 111021623 111021867 11000 1 PPTC7_chr12_111023118_111023488_F 1 . -1 -1 . -1 . . . . . . . chr12 111472155 111472260 10000 1 CUX2_chr12_111473237_111473713_F 1 . -1 -1 . -1 . . . . . . . chr12 111843251 111843331 10000 2 SH2B3_chr12_111847309_111847501_F:SH2B3_chr12_111847615_111848064_F 2 . -1 -1 . -1 . . . . . . . chr12 111844629 111844763 10000 1 SH2B3_chr12_111847309_111847501_F:SH2B3_chr12_111847615_111848064_F 2 . -1 -1 . -1 . . . . . . . chr12 113658877 113659250 11100 2 TPCN1_chr12_113660919_113661318_F 1 . -1 -1 . -1 . . . . . . . chr12 113660935 113661299 11100 3 TPCN1_chr12_113658759_113661319_F:TPCN1_chr12_113660919_113661318_F 2 . -1 -1 . -1 . . . . . . . chr12 113856121 113856555 11101 2 SDSL_chr12_113855961_113856499_F:SDSL_chr12_113856030_113860716_F 2 . -1 -1 . -1 . . . . . . . chr12 113858797 113858813 11101 1 SDSL_chr12_113858250_113860716_F 1 . -1 -1 . -1 . . . . . . . chr12 113858797 113859198 11101 1 SDSL_chr12_113855961_113856499_F:SDSL_chr12_113858388_113858513_F 2 . -1 -1 . -1 . . . . . . . chr12 113860142 113860385 11101 1 SDSL_chr12_113855961_113856499_F:SDSL_chr12_113858388_113858513_F 2 . -1 -1 . -1 . . . . . . . chr12 115122009 115122312 11101 3 TBX3_chr12_115123635_115123908_F:TBX3_chr12_115124772_115125182_F 2 . -1 -1 . -1 . . . . . . . chr12 116714222 116714398 10000 2 MED13L_chr12_117354463_117354748_S 1 . -1 -1 . -1 . . . . . . . chr12 119152469 119152622 10000 1 SUDS3_chr12_118815829_118815921_S 1 . -1 -1 . -1 . . . . . . . chr12 121130279 121130572 10000 1 MLEC_chr12_120877749_120877800_S 1 . -1 -1 . -1 . . . . . . . chr12 121382868 121382919 10000 1 RHOF_chr12_122230561_122233732_S 1 . -1 -1 . -1 . . . . . . . chr12 121569932 121570134 10000 3 P2RX7_chr12_121569260_121569366_F 1 . -1 -1 . -1 . . . . . . . chr12 121570526 121571131 10000 2 P2RX7_chr12_121569260_121569366_F 1 chr12 121570899 121570900 CS051694 + 2 DFP rs35933842 P2RX7 Null allele CTTCCACGTGATCATCTTTTCCTACGTTTG[G/T]taagtgggatctggggaggacccagatctc 15862308 chr12 121837637 121837961 11000 1 RNF34_chr12_121838748_121839039_F:RNF34_chr12_121839154_121839422_F 2 . -1 -1 . -1 . . . . . . . chr12 121838573 121838942 11100 1 RNF34_chr12_121837401_121839094_F:RNF34_chr12_121838748_121839039_F:RNF34_chr12_121839154_121839422_F 3 . -1 -1 . -1 . . . . . . . chr12 121838854 121838942 11100 1 RNF34_chr12_121837401_121839489_F 1 . -1 -1 . -1 . . . . . . . chr12 122064017 122064364 11101 1 ORAI1_chr12_122067749_122067897_F 1 . -1 -1 . -1 . . . . . . . chr12 122207967 122208087 10000 1 PSMD9_chr12_122326308_122327188_S 1 . -1 -1 . -1 . . . . . . . chr12 122232901 122233030 10000 1 RHOF_chr12_121382623_121382919_S:RHOF_chr12_122611315_122611414_S 2 . -1 -1 . -1 . . . . . . . chr12 122326348 122326718 11100 3 PSMD9_chr12_121927669_121929200_S:PSMD9_chr12_122207628_122208600_S 2 . -1 -1 . -1 . . . . . . . chr12 122459772 122459923 10100 1 BCL7A_chr12_122462187_122462386_F:BCL7A_chr12_122462417_122462775_F 2 . -1 -1 . -1 . . . . . . . chr12 122461201 122461915 11101 4 BCL7A_chr12_122462187_122462386_F:BCL7A_chr12_122462417_122462775_F 2 . -1 -1 . -1 . . . . . . . chr12 122461887 122461915 11101 4 BCL7A_chr12_122459360_122462487_F 1 . -1 -1 . -1 . . . . . . . chr12 122462212 122462417 10100 1 BCL7A_chr12_122459360_122462487_F:BCL7A_chr12_122459360_122462797_F:BCL7A_chr12_122462187_122462386_F:BCL7A_chr12_122462417_122462775_F 4 . -1 -1 . -1 . . . . . . . chr12 122516501 122516611 10100 1 MLXIP_chr12_122517490_122517922_F:MLXIP_chr12_122518432_122518585_F:MLXIP_chr12_122519763_122520228_F 3 . -1 -1 . -1 . . . . . . . chr12 122516966 122517162 11100 1 MLXIP_chr12_122517490_122517922_F:MLXIP_chr12_122518432_122518585_F:MLXIP_chr12_122519763_122520228_F 3 . -1 -1 . -1 . . . . . . . chr12 122517547 122517678 11100 1 MLXIP_chr12_122516151_122517907_F:MLXIP_chr12_122517490_122517922_F:MLXIP_chr12_122518432_122518585_F:MLXIP_chr12_122519763_122520228_F 4 . -1 -1 . -1 . . . . . . . chr12 122518449 122518559 10000 1 MLXIP_chr12_122516151_122518709_F:MLXIP_chr12_122518432_122518585_F:MLXIP_chr12_122519763_122520228_F 3 . -1 -1 . -1 . . . . . . . chr12 122611315 122611414 10000 3 RHOF_chr12_122230561_122233732_S 1 . -1 -1 . -1 . . . . . . . chr12 123383455 123383477 11000 1 VPS37B_chr12_123383124_123383428_F 1 . -1 -1 . -1 . . . . . . . chr12 123383455 123383673 11000 1 VPS37B_chr12_123380211_123383477_F 1 . -1 -1 . -1 . . . . . . . chr12 123547341 123547674 11100 2 CLIP1_chr12_122884072_122884364_S:ENSG00000256092_chr12_123849122_123850562_S 2 . -1 -1 . -1 . . . . . . . chr12 123849738 123849946 11101 1 ENSG00000256092_chr12_123547253_123548392_S 1 . -1 -1 . -1 . . . . . . . chr12 123850330 123850456 10001 1 ENSG00000256092_chr12_123547253_123548392_S 1 . -1 -1 . -1 . . . . . . . chr12 123920233 123920396 11000 1 RILPL2_chr12_123916939_123917399_F:RILPL2_chr12_123917456_123917702_F:RILPL2_chr12_123919438_123919802_F 3 . -1 -1 . -1 . . . . . . . chr12 123921027 123921207 11100 2 RILPL2_chr12_123916939_123917399_F:RILPL2_chr12_123917456_123917702_F:RILPL2_chr12_123919438_123919802_F 3 . -1 -1 . -1 . . . . . . . chr12 125399435 125399583 11101 1 UBC_chr12_125400956_125401141_F:UBC_chr12_125403508_125403991_F 2 . -1 -1 . -1 . . . . . . . chr12 125400949 125401199 11101 2 UBC_chr12_125399086_125401249_F:UBC_chr12_125400956_125401141_F:UBC_chr12_125403508_125403991_F 3 . -1 -1 . -1 . . . . . . . chr12 125401640 125402053 11101 2 UBC_chr12_125403508_125403991_F 1 . -1 -1 . -1 . . . . . . . chr12 125403626 125403885 10000 2 UBC_chr12_125399086_125403950_F:UBC_chr12_125403508_125403991_F 2 . -1 -1 . -1 . . . . . . . chr12 129308503 129308669 10101 1 SLC15A4_chr12_129305431_129305689_F:SLC15A4_chr12_129306542_129307039_F 2 . -1 -1 . -1 . . . . . . . chr12 129339013 129339153 10100 1 GLT1D1_chr12_129340998_129341268_F:GLT1D1_chr12_129341873_129342419_F 2 . -1 -1 . -1 . . . . . . . chr12 132903936 132904137 10000 1 GALNT9_chr12_132903795_132904258_F:GALNT9_chr12_132903826_132906405_F 2 . -1 -1 . -1 . . . . . . . chr13 21634450 21634645 11101 1 LATS2_chr13_21596926_21597600_S 1 . -1 -1 . -1 . . . . . . . chr13 21635613 21635838 10101 2 LATS2_chr13_21596926_21597600_S 1 . -1 -1 . -1 . . . . . . . chr13 27746072 27746190 10000 1 USP12_chr13_27748930_27749219_F 1 . -1 -1 . -1 . . . . . . . chr13 28400618 28400704 10100 1 GTF3A_chr13_28000089_28000288_S 1 . -1 -1 . -1 . . . . . . . chr13 29292442 29293198 10000 2 SLC46A3_chr13_29291126_29291443_F 1 . -1 -1 . -1 . . . . . . . chr13 37493574 37493712 10000 1 SMAD9_chr13_37493342_37494909_F:SMAD9_chr13_37493371_37493714_F 2 . -1 -1 . -1 . . . . . . . chr13 41591959 41592079 10000 1 ELF1_chr13_41591336_41594008_F 1 . -1 -1 . -1 . . . . . . . chr13 41591959 41592117 10000 1 ELF1_chr13_41591294_41591779_F 1 . -1 -1 . -1 . . . . . . . chr13 41593823 41593924 10000 1 ELF1_chr13_41591294_41591779_F 1 . -1 -1 . -1 . . . . . . . chr13 42845805 42845915 11000 1 AKAP11_chr13_42849254_42849451_F 1 . -1 -1 . -1 . . . . . . . chr13 46677198 46677321 11001 1 CPB2_chr13_46676671_46676746_F 1 . -1 -1 . -1 . . . . . . . chr13 46679052 46679384 11101 4 CPB2_chr13_46676671_46676746_F 1 chr13 46679312 46679313 CR080758 - 3 FP rs11574980 CPB2 Increased promoter activity TTATCAAGCAACAGCCTAACTAAGCCAATA[A/G]TATTTCTCTTTTTGGGAGTGGAAATGGAAG 17855631 chr13 46961736 46961861 10000 1 C13orf18_chr13_46962246_46962519_F 1 . -1 -1 . -1 . . . . . . . chr13 47128711 47128881 10100 1 LRCH1_chr13_47126795_47128959_F:LRCH1_chr13_47128564_47128952_F 2 . -1 -1 . -1 . . . . . . . chr13 49106828 49106951 11001 1 RCBTB2_chr13_49105819_49106173_F 1 . -1 -1 . -1 . . . . . . . chr13 50366772 50367243 11000 1 KPNA3_chr13_50818600_50820041_S 1 . -1 -1 . -1 . . . . . . . chr13 50656125 50656379 11010 3 DLEU1_chr13_50818600_50820041_S 1 . -1 -1 . -1 . . . . . . . chr13 50656980 50657238 11010 4 DLEU1_chr13_50818600_50820041_S 1 . -1 -1 . -1 . . . . . . . chr13 50819090 50819415 10001 2 DLEU1_chr13_50655186_50657238_S:KPNA3_chr13_50365923_50367481_S 2 . -1 -1 . -1 . . . . . . . chr13 52376062 52376219 11000 1 DHRS12_chr13_52375939_52378734_F:DHRS12_chr13_52375939_52378793_F:DHRS12_chr13_52376068_52376210_F:DHRS12_chr13_52376068_52376210_F 4 . -1 -1 . -1 . . . . . . . chr13 52377628 52377933 11000 1 DHRS12_chr13_52376068_52376210_F:DHRS12_chr13_52376068_52376210_F 2 . -1 -1 . -1 . . . . . . . chr13 52378249 52378489 11000 1 DHRS12_chr13_52376068_52376210_F:DHRS12_chr13_52376068_52376210_F 2 . -1 -1 . -1 . . . . . . . chr13 52572291 52572408 11100 1 ATP7B_chr13_52585247_52586789_S 1 . -1 -1 . -1 . . . . . . . chr13 52572860 52573000 11000 1 ATP7B_chr13_52585247_52586789_S 1 . -1 -1 . -1 . . . . . . . chr13 52585486 52585612 10101 1 ATP7B_chr13_52572000_52573000_S 1 chr13 52585509 52585510 CR016283 - 3 DM? NULL ATP7B Wilson disease TCCACCGACCAGGTGACCTTTTGCTCTGAG[C/T]CAGATCAGAGAAGAATTCGGTGTCCGTGCG 11405812 chr13 52585486 52585612 10101 1 ATP7B_chr13_52572000_52573000_S 1 chr13 52585522 52585523 CR129462 - 3 DM? NULL ATP7B Wilson disease CACCCCGCTCTCCTCCACCGACCAGGTGAC[C/G]TTTTGCTCTGAGCCAGATCAGAGAAGAATT NO ID chr13 52585486 52585612 10101 1 ATP7B_chr13_52572000_52573000_S 1 chr13 52585548 52585549 CR129463 - 3 DM? rs2277448 ATP7B Wilson disease CTGCGCCTCCTCTCCCGGGACTTTAACACC[C/A]CGCTCTCCTCCACCGACCAGGTGACCTTTT NO ID chr13 52585486 52585612 10101 1 ATP7B_chr13_52572000_52573000_S 1 chr13 52585551 52585552 CR971937 - 3 DM NULL ATP7B Wilson disease ACTCTGCGCCTCCTCTCCCGGGACTTTAAC[A/C]CCCCGCTCTCCTCCACCGACCAGGTGACCT 9199563 chr13 52585486 52585612 10101 1 ATP7B_chr13_52572000_52573000_S 1 chr13 52585596 52585597 CR971939 - 3 DM NULL ATP7B Wilson disease CGGACCCCTGTTTGCTTTAGAGCCGAGCCG[C/A]GCCGATGCCCTCACACTCTGCGCCTCCTCT 9199563 chr13 52585486 52585612 10101 1 ATP7B_chr13_52572000_52573000_S 1 chr13 52585601 52585602 CR129464 - 3 DM? rs73184332 ATP7B Wilson disease GTTCCCGGACCCCTGTTTGCTTTAGAGCCG[A/C]GCCGCGCCGATGCCCTCACACTCTGCGCCT NO ID chr13 52585486 52585612 10101 1 ATP7B_chr13_52572000_52573000_S 1 chr13 52585606 52585607 CR107556 - 3 DM NULL ATP7B Wilson disease GGGCGGTTCCCGGACCCCTGTTTGCTTTAG[A/C]GCCGAGCCGCGCCGATGCCCTCACACTCTG 20931554 chr13 52586055 52586335 11110 2 ATP7B_chr13_52572000_52573000_S 1 chr13 52586149 52586150 CR139980 - 3 DM? NULL ATP7B Wilson disease GCGCACAGCGGATCGATTTTCCAGGTGCGG[A/G]GTTCACTCTTGCCGCGGTTGCTTCCTTTGG 24094725 chr13 74706456 74706608 11101 1 KLF12_chr13_74706134_74706569_F:KLF12_chr13_74706151_74708566_F 2 . -1 -1 . -1 . . . . . . . chr13 74708515 74708566 10100 1 KLF12_chr13_74706134_74706569_F 1 . -1 -1 . -1 . . . . . . . chr13 74708515 74708663 10100 1 KLF12_chr13_74708897_74709334_F:KLF12_chr13_74709487_74710034_F 2 . -1 -1 . -1 . . . . . . . chr13 74708597 74708663 10100 1 KLF12_chr13_74707565_74709316_F 1 . -1 -1 . -1 . . . . . . . chr13 74708969 74709172 10001 1 KLF12_chr13_74707565_74709316_F:KLF12_chr13_74708897_74709334_F:KLF12_chr13_74709487_74710034_F 3 . -1 -1 . -1 . . . . . . . chr13 74709518 74709634 11101 1 KLF12_chr13_74707565_74709316_F 1 . -1 -1 . -1 . . . . . . . chr13 74709518 74709727 11101 1 KLF12_chr13_74707565_74709961_F:KLF12_chr13_74709487_74710034_F 2 . -1 -1 . -1 . . . . . . . chr13 76334689 76334951 11111 2 LMO7_chr13_76336754_76337033_F 1 . -1 -1 . -1 . . . . . . . chr13 76336337 76336972 11110 3 LMO7_chr13_76336754_76337033_F 1 . -1 -1 . -1 . . . . . . . chr13 76336454 76336972 11110 3 LMO7_chr13_76334296_76337094_F 1 . -1 -1 . -1 . . . . . . . chr13 77900107 77900271 11010 1 MYCBP2_chr13_77899451_77901677_F 1 . -1 -1 . -1 . . . . . . . chr13 77900107 77900304 11010 1 MYCBP2_chr13_77899332_77899971_F 1 . -1 -1 . -1 . . . . . . . chr13 77901176 77901484 11010 1 MYCBP2_chr13_77899332_77899971_F 1 . -1 -1 . -1 . . . . . . . chr13 97872932 97872939 11000 1 MBNL2_chr13_97872271_97875074_F 1 . -1 -1 . -1 . . . . . . . chr13 97872932 97873067 11000 1 MBNL2_chr13_97872304_97872639_F 1 . -1 -1 . -1 . . . . . . . chr13 97874409 97874660 11111 1 MBNL2_chr13_97872304_97872639_F 1 . -1 -1 . -1 . . . . . . . chr13 98628429 98628718 00000 1 IPO5_chr13_99221800_99222334_S 1 . -1 -1 . -1 . . . . . . . chr13 98797216 98797474 10010 4 FARP1_chr13_99221800_99222334_S 1 . -1 -1 . -1 . . . . . . . chr13 99158758 99159378 10101 2 ENSG00000250780_chr13_99221800_99222334_S 1 . -1 -1 . -1 . . . . . . . chr13 99221800 99222156 10000 3 ENSG00000250780_chr13_99158758_99159421_S:FARP1_chr13_98794400_98795885_S:FARP1_chr13_98796133_98796236_S:FARP1_chr13_98796568_98796724_S:FARP1_chr13_98797216_98797556_S:IPO5_chr13_98627937_98629154_S:STK24_chr13_99228330_99229027_S:UBAC2_chr13_99852371_99854178_S 8 . -1 -1 . -1 . . . . . . . chr13 99403744 99403967 10010 1 SLC15A1_chr13_99403498_99405429_F:SLC15A1_chr13_99403586_99403810_F 2 . -1 -1 . -1 . . . . . . . chr13 99404855 99404981 10010 1 SLC15A1_chr13_99403586_99403810_F 1 . -1 -1 . -1 . . . . . . . chr13 99852929 99853143 11011 1 UBAC2_chr13_99221800_99222334_S 1 . -1 -1 . -1 . . . . . . . chr13 103052311 103052480 10000 1 FGF14_chr13_103051676_103052522_F:FGF14_chr13_103051899_103054624_F 2 . -1 -1 . -1 . . . . . . . chr13 103053195 103053456 10000 1 FGF14_chr13_103051676_103052522_F 1 . -1 -1 . -1 . . . . . . . chr13 103054466 103054620 10000 1 FGF14_chr13_103051676_103052522_F 1 . -1 -1 . -1 . . . . . . . chr13 103249134 103249365 11000 3 TPP2_chr13_103249969_103250343_F 1 . -1 -1 . -1 . . . . . . . chr13 103250177 103250320 11000 1 TPP2_chr13_103248785_103250357_F:TPP2_chr13_103249969_103250343_F 2 . -1 -1 . -1 . . . . . . . chr13 108921909 108922155 11010 1 TNFSF13B_chr13_108918601_108918948_F:TNFSF13B_chr13_108919755_108919960_F 2 . -1 -1 . -1 . . . . . . . chr13 110438887 110439060 10000 1 IRS2_chr13_110439676_110440079_F:IRS2_chr13_110441173_110441468_F 2 . -1 -1 . -1 . . . . . . . chr13 110440702 110440818 11100 1 IRS2_chr13_110441173_110441468_F 1 . -1 -1 . -1 . . . . . . . chr13 111211822 111211961 10000 2 RAB20_chr13_111211890_111214571_F 1 . -1 -1 . -1 . . . . . . . chr13 111211890 111211961 10000 2 RAB20_chr13_111212014_111212166_F 1 . -1 -1 . -1 . . . . . . . chr13 111213376 111213522 10000 1 RAB20_chr13_111212014_111212166_F:RAB20_chr13_111212895_111214571_F:RAB20_chr13_111212967_111213224_F 3 . -1 -1 . -1 . . . . . . . chr13 111214160 111214512 10000 3 RAB20_chr13_111212014_111212166_F:RAB20_chr13_111212967_111213224_F 2 . -1 -1 . -1 . . . . . . . chr13 111565671 111565895 10000 1 ANKRD10_chr13_111564894_111565358_F 1 . -1 -1 . -1 . . . . . . . chr13 111567432 111567916 10000 1 ANKRD10_chr13_111564894_111565358_F 1 . -1 -1 . -1 . . . . . . . chr13 111567432 111568001 10000 1 ANKRD10_chr13_111568618_111569036_F 1 . -1 -1 . -1 . . . . . . . chr13 113777065 113777505 11111 2 F10_chr13_113366200_113366594_S:F10_chr13_113369400_113369661_S 2 chr13 113777170 113777171 CM980647 + 1 DM NULL F10 Factor X deficiency gaggacagggacacagtactcggccacacc[A/G]TGGGGCGCCCACTGCACCTCGTCCTGCTCA 9799000 chr13 113777065 113777505 11111 2 F10_chr13_113366200_113366594_S:F10_chr13_113369400_113369661_S 2 chr13 113777188 113777189 CM025192 + 1 DM rs5963 F10 Factor X deficiency ctcggccacaccATGGGGCGCCCACTGCAC[C/A]TCGTCCTGCTCAGTGCCTCCCTGGCTGGCC 12010428 chr13 113777065 113777505 11111 2 F10_chr13_113366200_113366594_S:F10_chr13_113369400_113369661_S 2 chr13 113777191 113777192 CM103623 + 1 DM NULL F10 Factor X deficiency ggccacaccATGGGGCGCCCACTGCACCTC[G/T]TCCTGCTCAGTGCCTCCCTGGCTGGCCTCC 20331754 chr13 113777065 113777505 11111 2 F10_chr13_113366200_113366594_S:F10_chr13_113369400_113369661_S 2 chr13 113777195 113777196 CM063971 + 1 DM NULL F10 Factor X deficiency acaccATGGGGCGCCCACTGCACCTCGTCC[T/C]GCTCAGTGCCTCCCTGGCTGGCCTCCTGCT 16919077 chr13 113777065 113777505 11111 2 F10_chr13_113366200_113366594_S:F10_chr13_113369400_113369661_S 2 chr13 113777202 113777203 CM014704 + 1 DM NULL F10 Factor X deficiency GGGGCGCCCACTGCACCTCGTCCTGCTCAG[T/G]GCCTCCCTGGCTGGCCTCCTGCTGCTCGGG 11758231 chr13 113777065 113777505 11111 2 F10_chr13_113366200_113366594_S:F10_chr13_113369400_113369661_S 2 chr13 113777203 113777204 CD044783 + 5 DM NULL F10 Factor X deficiency GGGCGCCCACTGCACCTCGTCCTGCTCAGT[GC/-]CTCCCTGGCTGGCCTCCTGCTGCTCGGGGA 15060750 chr13 113777065 113777505 11111 2 F10_chr13_113366200_113366594_S:F10_chr13_113369400_113369661_S 2 chr13 113777203 113777204 CM135363 + 1 DM NULL F10 Factor X deficiency GGGCGCCCACTGCACCTCGTCCTGCTCAGT[G/C]CCTCCCTGGCTGGCCTCCTGCTGCTCGGGG 23664564 chr13 113777065 113777505 11111 2 F10_chr13_113366200_113366594_S:F10_chr13_113369400_113369661_S 2 chr13 113777213 113777214 CM103624 + 1 DM NULL F10 Factor X deficiency TGCACCTCGTCCTGCTCAGTGCCTCCCTGG[C/A]TGGCCTCCTGCTGCTCGGGGAAAGTCgtaa 20331754 chr13 113777065 113777505 11111 2 F10_chr13_113366200_113366594_S:F10_chr13_113369400_113369661_S 2 chr13 113777230 113777231 CM910113 + 1 DM NULL F10 Factor X deficiency AGTGCCTCCCTGGCTGGCCTCCTGCTGCTC[G/A]GGGAAAGTCgtaagtgcccctcgcccttca 1939653 chr13 113777065 113777505 11111 2 F10_chr13_113366200_113366594_S:F10_chr13_113369400_113369661_S 2 chr13 113777240 113777241 CS054887 + 2 DM NULL F10 Factor X deficiency TGGCTGGCCTCCTGCTGCTCGGGGAAAGTC[G/A]taagtgcccctcgcccttcagacccaaaag 15569527 chr13 113777065 113777505 11111 2 F10_chr13_113366200_113366594_S:F10_chr13_113369400_113369661_S 2 chr13 113777242 113777243 CS021168 + 2 DM NULL F10 Factor X deficiency GCTGGCCTCCTGCTGCTCGGGGAAAGTCgt[A/T]agtgcccctcgcccttcagacccaaaagca 12028042 chr14 21571738 21571865 11101 1 ZNF219_chr14_21131018_21131254_S 1 . -1 -1 . -1 . . . . . . . chr14 21571783 21572606 11111 1 ZNF219_chr14_21131018_21131254_S 1 . -1 -1 . -1 . . . . . . . chr14 23306241 23306385 11000 1 MMP14_chr14_23307440_23308274_F 1 . -1 -1 . -1 . . . . . . . chr14 23340367 23341095 11010 4 LRP10_chr14_23372123_23373472_S 1 . -1 -1 . -1 . . . . . . . chr14 23372286 23372985 11000 3 BCL2L2_chr14_23764189_23764318_S:BCL2L2_chr14_23764423_23764751_S:DAD1_chr14_23057600_23059025_S:ENSG00000258464_chr14_24199420_24199539_S:LRP10_chr14_23340244_23342091_S 5 . -1 -1 . -1 . . . . . . . chr14 23398707 23399073 10111 2 7523_chr14_23768896_23769200_S 1 . -1 -1 . -1 . . . . . . . chr14 23445931 23446164 11000 3 JUB_chr14_23449757_23450231_F 1 . -1 -1 . -1 . . . . . . . chr14 23446989 23447165 11111 1 JUB_chr14_23449757_23450231_F 1 . -1 -1 . -1 . . . . . . . chr14 23447734 23447922 10000 1 JUB_chr14_23449757_23450231_F 1 . -1 -1 . -1 . . . . . . . chr14 23449500 23449615 10010 1 JUB_chr14_23449033_23452348_F 1 . -1 -1 . -1 . . . . . . . chr14 23449500 23449658 10010 1 JUB_chr14_23445931_23450195_F:JUB_chr14_23449151_23449315_F:JUB_chr14_23449757_23450231_F:JUB_chr14_23449794_23452348_F 4 . -1 -1 . -1 . . . . . . . chr14 23451806 23451927 10111 1 JUB_chr14_23449151_23449315_F:JUB_chr14_23449757_23450231_F 2 . -1 -1 . -1 . . . . . . . chr14 23504118 23504518 11111 2 PSMB5_chr14_23768896_23769200_S 1 . -1 -1 . -1 . . . . . . . chr14 23790091 23790621 11111 2 PABPN1_chr14_24775268_24776400_S 1 . -1 -1 . -1 . . . . . . . chr14 24505548 24506202 11000 3 ENSG00000225766_chr14_24577800_24578518_S 1 . -1 -1 . -1 . . . . . . . chr14 24506202 24506241 11000 3 DCAF11_chr14_24582756_24584600_S:RNF31_chr14_24630400_24630995_S:TINF2_chr14_24710907_24712881_S 3 . -1 -1 . -1 . . . . . . . chr14 24578104 24578397 11111 1 BCL2L2_chr14_23764189_23764318_S:BCL2L2_chr14_23764423_23764751_S:ENSG00000225766_chr14_24505408_24506202_S:RNF31_chr14_24630400_24630995_S:TINF2_chr14_24710907_24712881_S 5 . -1 -1 . -1 . . . . . . . chr14 24582756 24582771 11000 1 DCAF11_chr14_23768896_23769200_S:DCAF11_chr14_24506202_24506611_S:DCAF11_chr14_24721212_24722400_S:DCAF11_chr14_24775268_24776400_S 4 . -1 -1 . -1 . . . . . . . chr14 24583060 24583457 11111 3 DCAF11_chr14_23768896_23769200_S:DCAF11_chr14_24506202_24506611_S:DCAF11_chr14_24721212_24722400_S:DCAF11_chr14_24775268_24776400_S 4 . -1 -1 . -1 . . . . . . . chr14 24583750 24584583 11111 4 DCAF11_chr14_23768896_23769200_S:DCAF11_chr14_24506202_24506611_S:DCAF11_chr14_24721212_24722400_S:DCAF11_chr14_24775268_24776400_S 4 . -1 -1 . -1 . . . . . . . chr14 24605102 24605351 10100 1 PSME1_chr14_24721212_24722400_S:PSME1_chr14_24775268_24776400_S 2 . -1 -1 . -1 . . . . . . . chr14 24630400 24630522 11111 1 RNF31_chr14_23768896_23769200_S:RNF31_chr14_24070821_24072481_S:RNF31_chr14_24503410_24503826_S:RNF31_chr14_24503977_24504464_S:RNF31_chr14_24506202_24506611_S:RNF31_chr14_24577800_24578518_S:RNF31_chr14_24721212_24722400_S:RNF31_chr14_24775268_24776400_S:RNF31_chr14_25147658_25148209_S:RNF31_chr14_25275400_25275518_S 10 . -1 -1 . -1 . . . . . . . chr14 24658025 24658221 10100 2 TM9SF1_chr14_23768896_23769200_S:TM9SF1_chr14_24721212_24722400_S:TM9SF1_chr14_24775268_24776400_S 3 . -1 -1 . -1 . . . . . . . chr14 24712603 24712775 11001 1 TINF2_chr14_23768896_23769200_S:TINF2_chr14_24070821_24072481_S:TINF2_chr14_24506202_24506611_S:TINF2_chr14_24577800_24578518_S:TINF2_chr14_24711379_24712922_F:TINF2_chr14_24712544_24712898_F:TINF2_chr14_24721212_24722400_S:TINF2_chr14_24775268_24776400_S:TINF2_chr14_25147658_25148209_S:TINF2_chr14_25275400_25275518_S 10 . -1 -1 . -1 . . . . . . . chr14 24911938 24912215 11111 3 SDR39U1_chr14_24026909_24027000_S:SDR39U1_chr14_24775268_24776400_S 2 . -1 -1 . -1 . . . . . . . chr14 31028174 31028352 11100 1 G2E3_chr14_31697672_31699766_S 1 . -1 -1 . -1 . . . . . . . chr14 31698889 31699360 11111 4 ENSG00000199291_chr14_31727000_31728200_S:G2E3_chr14_31027833_31029282_S:HEATR5A_chr14_31888828_31890455_S:HECTD1_chr14_31675801_31678084_S 4 . -1 -1 . -1 . . . . . . . chr14 31727096 31727607 11000 3 ENSG00000199291_chr14_31697672_31699766_S:ENSG00000199291_chr14_31730587_31732337_S:ENSG00000199291_chr14_32404149_32405059_S 3 . -1 -1 . -1 . . . . . . . chr14 31731166 31731539 11000 3 ENSG00000199291_chr14_31727000_31728200_S 1 . -1 -1 . -1 . . . . . . . chr14 31889237 31889460 11010 1 HEATR5A_chr14_31697672_31699766_S 1 . -1 -1 . -1 . . . . . . . chr14 31889761 31889990 11111 2 HEATR5A_chr14_31697672_31699766_S 1 . -1 -1 . -1 . . . . . . . chr14 35870054 35870240 11000 1 NFKBIA_chr14_35869889_35874460_F:NFKBIA_chr14_35869907_35870271_F 2 . -1 -1 . -1 . . . . . . . chr14 35871540 35871757 11110 1 NFKBIA_chr14_35869907_35870271_F 1 . -1 -1 . -1 . . . . . . . chr14 35872935 35873423 11111 2 NFKBIA_chr14_35869907_35870271_F 1 . -1 -1 . -1 . . . . . . . chr14 35873977 35874413 11111 2 NFKBIA_chr14_35869907_35870271_F:NFKBIA_chr14_35875800_35875964_F:NFKBIA_chr14_35876265_35876636_F 3 chr14 35874270 35874271 CR136345 - 3 DFP rs2233409 NFKBIA Airway hyperresponsiveness after viral infection: association with TCGATCGTGGGAAACCCCAGGGAAAGAAGG[C/T]TCACTTGCAGAGGGACAGGATTACAGGGTG 23487427 chr14 38015896 38016341 11111 2 FOXA1_chr14_38063163_38065903_S:SLC25A21_chr14_37641084_37642058_S 2 . -1 -1 . -1 . . . . . . . chr14 38064417 38064528 10101 1 FOXA1_chr14_38015520_38017053_S:FOXA1_chr14_38343419_38344393_S 2 . -1 -1 . -1 . . . . . . . chr14 38065319 38065554 11100 1 FOXA1_chr14_38015520_38017053_S:FOXA1_chr14_38343419_38344393_S 2 . -1 -1 . -1 . . . . . . . chr14 38343970 38344128 11100 1 FOXA1_chr14_38063163_38065903_S:LINC00517_chr14_38372880_38372972_S 2 . -1 -1 . -1 . . . . . . . chr14 39643963 39644391 10000 2 PNN_chr14_39566400_39566800_S 1 . -1 -1 . -1 . . . . . . . chr14 39901605 39902204 11110 3 FBXO33_chr14_39900071_39900466_F 1 . -1 -1 . -1 . . . . . . . chr14 45722325 45723105 11000 2 MIS18BP1_chr14_45721298_45721397_F 1 . -1 -1 . -1 . . . . . . . chr14 50090965 50091075 10100 1 MGAT2_chr14_50086988_50091206_F:MGAT2_chr14_50090977_50091033_F:RPL36AL_chr14_50086848_50091206_F:RPL36AL_chr14_50090977_50091033_F 4 . -1 -1 . -1 . . . . . . . chr14 50188590 50188600 10000 2 MAP4K5_chr14_50998531_50999894_S 1 . -1 -1 . -1 . . . . . . . chr14 50234786 50234939 11101 1 KLHDC2_chr14_50237132_50237443_F 1 . -1 -1 . -1 . . . . . . . chr14 50235547 50235864 11100 2 KLHDC2_chr14_50237132_50237443_F 1 . -1 -1 . -1 . . . . . . . chr14 50237142 50237310 11010 3 KLHDC2_chr14_50234286_50237488_F:KLHDC2_chr14_50237132_50237443_F 2 . -1 -1 . -1 . . . . . . . chr14 51410160 51410447 11010 2 PYGL_chr14_51410097_51411748_F:PYGL_chr14_51410207_51410388_F 2 . -1 -1 . -1 . . . . . . . chr14 51410688 51410859 11000 1 PYGL_chr14_51410207_51410388_F 1 . -1 -1 . -1 . . . . . . . chr14 51411142 51411370 11010 1 PYGL_chr14_51410207_51410388_F 1 . -1 -1 . -1 . . . . . . . chr14 51411496 51411748 11000 2 PYGL_chr14_51410207_51410388_F 1 . -1 -1 . -1 . . . . . . . chr14 53020698 53020863 11010 1 GPR137C_chr14_53019365_53020942_F:GPR137C_chr14_53020677_53020806_F:TXNDC16_chr14_53018800_53020942_F:TXNDC16_chr14_53020677_53020806_F 4 . -1 -1 . -1 . . . . . . . chr14 53288505 53288756 11010 4 ENSG00000225680_chr14_54080172_54081308_S 1 . -1 -1 . -1 . . . . . . . chr14 54080276 54080835 10110 2 ENSG00000225680_chr14_53288505_53289179_S:ENSG00000225680_chr14_54605400_54606438_S:ENSG00000225680_chr14_54642258_54642988_S 3 . -1 -1 . -1 . . . . . . . chr14 54605431 54605738 11110 4 CNIH1_chr14_54907459_54908341_S:ENSG00000225680_chr14_54080172_54081308_S:GCH1_chr14_55368646_55370048_S 3 . -1 -1 . -1 . . . . . . . chr14 54907459 54907671 11110 3 CNIH1_chr14_54605400_54606438_S 1 . -1 -1 . -1 . . . . . . . chr14 54908039 54908331 11100 4 CNIH1_chr14_54605400_54606438_S 1 . -1 -1 . -1 . . . . . . . chr14 55034976 55035208 10110 1 SAMD4A_chr14_55035984_55036343_F 1 . -1 -1 . -1 . . . . . . . chr14 55368849 55369087 11000 2 GCH1_chr14_54605400_54606438_S 1 chr14 55369034 55369035 CS095079 - 2 DM NULL GCH1 Dystonia: dopa-responsive CAAGGGCTACCAGGAGACCATCTCAGgtca[G/C]tgcgcccgcgggctgctagagcgtgcgggc 19332422 chr14 55368849 55369087 11000 2 GCH1_chr14_54605400_54606438_S 1 chr14 55369037 55369038 CS081920 - 2 DM NULL GCH1 Dystonia: dopa-responsive CACCAAGGGCTACCAGGAGACCATCTCAGg[T/G]cagtgcgcccgcgggctgctagagcgtgcg 17898029 chr14 55368849 55369087 11000 2 GCH1_chr14_54605400_54606438_S 1 chr14 55369039 55369040 CM011349 - 1 DM NULL GCH1 Dystonia: dopa-responsive TTCACCAAGGGCTACCAGGAGACCATCTCA[G/A]gtcagtgcgcccgcgggctgctagagcgtg 9328244 chr14 55368849 55369087 11000 2 GCH1_chr14_54605400_54606438_S 1 chr14 55369040 55369041 CS983946 - 2 DM? NULL GCH1 Dystonia: dopa-responsive CTTCACCAAGGGCTACCAGGAGACCATCTC[A/T]Ggtcagtgcgcccgcgggctgctagagcgt 9778264 chr14 55368849 55369087 11000 2 GCH1_chr14_54605400_54606438_S 1 chr14 55369041 55369042 CM064007 - 1 DM NULL GCH1 Dystonia: dopa-responsive TCTTCACCAAGGGCTACCAGGAGACCATCT[C/G]AGgtcagtgcgcccgcgggctgctagagcg 16917893 chr14 55368849 55369087 11000 2 GCH1_chr14_54605400_54606438_S 1 chr14 55369041 55369042 CM960725 - 1 DM NULL GCH1 Dystonia: dopa-responsive TCTTCACCAAGGGCTACCAGGAGACCATCT[C/A]AGgtcagtgcgcccgcgggctgctagagcg 8619546 chr14 55368849 55369087 11000 2 GCH1_chr14_54605400_54606438_S 1 chr14 55369052 55369053 CI011682 - 6 DM NULL GCH1 Dystonia: dopa-responsive GGCCATGCAGTTCTTCACCAAGGGCTACCA[-/A]GGAGACCATCTCAGGTCAGTGCGCCCGCGG 9566388 chr14 55368849 55369087 11000 2 GCH1_chr14_54605400_54606438_S 1 chr14 55369053 55369062 CD093880 - 5 DM NULL GCH1 Dystonia: dopa-responsive GGGCGGCCTCGGCCATGCAGTTCTTCACCA[AGGGCTACCA/-]GGAGACCATCTCAGGTCAGTGCGCCCGCGG 19491146 chr14 55368849 55369087 11000 2 GCH1_chr14_54605400_54606438_S 1 chr14 55369054 55369055 CM970627 - 1 DM NULL GCH1 Hyperphenylalaninaemia TCGGCCATGCAGTTCTTCACCAAGGGCTAC[C/T]AGGAGACCATCTCAGgtcagtgcgcccgcg 9222755 chr14 55368849 55369087 11000 2 GCH1_chr14_54605400_54606438_S 1 chr14 55369059 55369060 CM011347 - 1 DM rs104894435 GCH1 Dystonia: dopa-responsive CGGCCTCGGCCATGCAGTTCTTCACCAAGG[G/A]CTACCAGGAGACCATCTCAGgtcagtgcgc 9667588 chr14 55368849 55369087 11000 2 GCH1_chr14_54605400_54606438_S 1 chr14 55369059 55369060 CM011348 - 1 DM NULL GCH1 Tetrahydrobiopterin deficiency CGGCCTCGGCCATGCAGTTCTTCACCAAGG[G/T]CTACCAGGAGACCATCTCAGgtcagtgcgc 16917893 chr14 55368849 55369087 11000 2 GCH1_chr14_54605400_54606438_S 1 chr14 55369060 55369061 CM081650 - 1 DM NULL GCH1 Dystonia: dopa-responsive GCGGCCTCGGCCATGCAGTTCTTCACCAAG[G/A]GCTACCAGGAGACCATCTCAGgtcagtgcg 17898029 chr14 55368849 55369087 11000 2 GCH1_chr14_54605400_54606438_S 1 chr14 55369065 55369066 CM055947 - 1 DM NULL GCH1 Dystonia: progressive GGAGGGCGGCCTCGGCCATGCAGTTCTTCA[C/T]CAAGGGCTACCAGGAGACCATCTCAGgtca 15852365 chr14 55368849 55369087 11000 2 GCH1_chr14_54605400_54606438_S 1 chr14 55369066 55369067 CI050929 - 6 DM NULL GCH1 Dystonia: dopa-responsive TGGAGGGCGGCCTCGGCCATGCAGTTCTTC[-/TTC]ACCAAGGGCTACCAGGAGACCATCTCAGGT 15753436 chr14 55368849 55369087 11000 2 GCH1_chr14_54605400_54606438_S 1 chr14 55369070 55369071 CM093866 - 1 DM NULL GCH1 Dystonia: dopa-responsive GCCCTGGAGGGCGGCCTCGGCCATGCAGTT[C/A]TTCACCAAGGGCTACCAGGAGACCATCTCA 19491146 chr14 55368849 55369087 11000 2 GCH1_chr14_54605400_54606438_S 1 chr14 55369073 55369074 CD982672 - 5 DM NULL GCH1 Dystonia: dopa-responsive GACGCCCTGGAGGGCGGCCTCGGCCATGCA[G/-]TTCTTCACCAAGGGCTACCAGGAGACCATC 9585358 chr14 55368849 55369087 11000 2 GCH1_chr14_54605400_54606438_S 1 chr14 55369073 55369074 CM127399 - 1 DM NULL GCH1 GTP-cyclohydrolase I deficiency GACGCCCTGGAGGGCGGCCTCGGCCATGCA[G/C]TTCTTCACCAAGGGCTACCAGGAGACCATC 22473768 chr14 55368849 55369087 11000 2 GCH1_chr14_54605400_54606438_S 1 chr14 55369074 55369075 CM050623 - 1 DM NULL GCH1 Dystonia: dopa-responsive AGACGCCCTGGAGGGCGGCCTCGGCCATGC[A/C]GTTCTTCACCAAGGGCTACCAGGAGACCAT 15753436 chr14 55368849 55369087 11000 2 GCH1_chr14_54605400_54606438_S 1 chr14 55369077 55369078 CM011345 - 1 DM NULL GCH1 Dystonia: dopa-responsive TCAAGACGCCCTGGAGGGCGGCCTCGGCCA[T/G]GCAGTTCTTCACCAAGGGCTACCAGGAGAC 10582612 chr14 55368849 55369087 11000 2 GCH1_chr14_54605400_54606438_S 1 chr14 55369077 55369078 CM011346 - 1 DM NULL GCH1 Dystonia: dopa-responsive TCAAGACGCCCTGGAGGGCGGCCTCGGCCA[T/A]GCAGTTCTTCACCAAGGGCTACCAGGAGAC 9626769 chr14 55369740 55369885 11000 1 GCH1_chr14_54605400_54606438_S 1 . -1 -1 . -1 . . . . . . . chr14 57046969 57047103 10000 1 C14orf101_chr14_57047832_57047974_F 1 . -1 -1 . -1 . . . . . . . chr14 58764868 58765162 11111 2 ARID4A_chr14_58766869_58767218_F 1 . -1 -1 . -1 . . . . . . . chr14 58766351 58766504 11100 1 ARID4A_chr14_58766869_58767218_F 1 . -1 -1 . -1 . . . . . . . chr14 59655250 59655530 11110 2 DAAM1_chr14_59656513_59656908_F 1 . -1 -1 . -1 . . . . . . . chr14 59656703 59656853 10100 1 DAAM1_chr14_59654898_59656911_F:DAAM1_chr14_59656513_59656908_F 2 . -1 -1 . -1 . . . . . . . chr14 59950568 59950776 11101 1 C14orf149_chr14_59949393_59949731_F 1 . -1 -1 . -1 . . . . . . . chr14 59951157 59951391 11101 1 C14orf149_chr14_59949393_59949731_F 1 . -1 -1 . -1 . . . . . . . chr14 62161930 62162089 11010 2 HIF1A_chr14_62157799_62158071_F 1 . -1 -1 . -1 . . . . . . . chr14 64108482 64108768 11111 1 WDR89_chr14_64109095_64109326_F:WDR89_chr14_64109095_64109326_F 2 . -1 -1 . -1 . . . . . . . chr14 64967814 64967932 10000 3 ZBTB1_chr14_64968184_64971792_F:ZBTB25_chr14_64968184_64971054_F 2 . -1 -1 . -1 . . . . . . . chr14 64968290 64968553 11011 2 ZBTB1_chr14_64968114_64968655_F:ZBTB1_chr14_64968184_64971792_F:ZBTB25_chr14_64968114_64968655_F:ZBTB25_chr14_64968184_64971054_F 4 . -1 -1 . -1 . . . . . . . chr14 64970371 64970509 10100 1 ZBTB1_chr14_64968114_64968655_F:ZBTB25_chr14_64968114_64968655_F 2 . -1 -1 . -1 . . . . . . . chr14 64971254 64971738 11111 1 ZBTB1_chr14_64968114_64968655_F 1 . -1 -1 . -1 . . . . . . . chr14 65170692 65171158 11101 2 PLEKHG3_chr14_65172114_65172865_F 1 . -1 -1 . -1 . . . . . . . chr14 68283270 68283717 11111 3 ZFYVE26_chr14_68281633_68281808_F 1 . -1 -1 . -1 . . . . . . . chr14 73525026 73525259 11011 3 RBM25_chr14_74238600_74238800_S 1 . -1 -1 . -1 . . . . . . . chr14 73525650 73525891 11000 1 RBM25_chr14_74238600_74238800_S 1 . -1 -1 . -1 . . . . . . . chr14 74226774 74227322 11110 3 C14orf43_chr14_74228325_74228451_F:C14orf43_chr14_74228460_74228789_F:C14orf43_chr14_74229197_74229543_F 3 . -1 -1 . -1 . . . . . . . chr14 74229199 74229372 10000 1 C14orf43_chr14_74226500_74229571_F:C14orf43_chr14_74229197_74229543_F 2 . -1 -1 . -1 . . . . . . . chr14 74238654 74238800 11000 1 ELMSAN1_chr14_74225038_74225489_S:ELMSAN1_chr14_74252585_74253067_S:RBM25_chr14_73524747_73526063_S 3 . -1 -1 . -1 . . . . . . . chr14 74252585 74252861 11111 3 ELMSAN1_chr14_74238600_74238800_S:ELMSAN1_chr14_74718000_74718334_S 2 . -1 -1 . -1 . . . . . . . chr14 75517742 75518343 11111 1 MLH3_chr14_75521336_75521721_F 1 . -1 -1 . -1 . . . . . . . chr14 75743860 75744009 11101 1 FOS_chr14_75741549_75742051_F 1 . -1 -1 . -1 . . . . . . . chr14 81685639 81685886 11111 2 GTF2A1_chr14_81685513_81686063_F:GTF2A1_chr14_81685513_81686063_F:GTF2A1_chr14_81685588_81687794_F:GTF2A1_chr14_81685588_81688075_F 4 . -1 -1 . -1 . . . . . . . chr14 81687381 81687491 11110 1 GTF2A1_chr14_81685513_81686063_F:GTF2A1_chr14_81685513_81686063_F 2 . -1 -1 . -1 . . . . . . . chr14 81867335 81867525 11001 1 STON2_chr14_81864426_81867636_F:STON2_chr14_81867255_81867616_F 2 . -1 -1 . -1 . . . . . . . chr14 89817976 89818667 11111 3 FOXN3_chr14_89883337_89884504_S 1 . -1 -1 . -1 . . . . . . . chr14 89882058 89882206 11010 2 FOXN3_chr14_89881744_89883954_F:FOXN3_chr14_89881748_89882141_F 2 . -1 -1 . -1 . . . . . . . chr14 89882578 89882893 11001 1 FOXN3_chr14_89881748_89882141_F 1 . -1 -1 . -1 . . . . . . . chr14 89883503 89883706 10001 1 FOXN3_chr14_89817357_89818800_S:FOXN3_chr14_89881748_89882141_F 2 . -1 -1 . -1 . . . . . . . chr14 89884416 89884504 11011 2 FOXN3_chr14_89817357_89818800_S 1 . -1 -1 . -1 . . . . . . . chr14 90084278 90084491 11101 1 FOXN3_chr14_90081839_90081992_F:FOXN3_chr14_90083286_90083622_F:FOXN3_chr14_90083771_90084428_F:FOXN3_chr14_90083899_90085994_F 4 . -1 -1 . -1 . . . . . . . chr14 90084832 90085016 11101 4 FOXN3_chr14_90081839_90081992_F:FOXN3_chr14_90083286_90083622_F:FOXN3_chr14_90083771_90084428_F 3 . -1 -1 . -1 . . . . . . . chr14 90084993 90085016 11101 4 FOXN3_chr14_90086646_90086901_F 1 . -1 -1 . -1 . . . . . . . chr14 90085259 90085994 11101 3 FOXN3_chr14_90081839_90081992_F:FOXN3_chr14_90083286_90083622_F:FOXN3_chr14_90083771_90084428_F 3 . -1 -1 . -1 . . . . . . . chr14 90085259 90086052 11101 3 FOXN3_chr14_90086646_90086901_F 1 . -1 -1 . -1 . . . . . . . chr14 91527247 91527514 10010 2 RPS6KA5_chr14_91528012_91528136_F:RPS6KA5_chr14_91529481_91529737_F 2 . -1 -1 . -1 . . . . . . . chr14 92571902 92572079 10000 1 ATXN3_chr14_92572013_92573465_F 1 . -1 -1 . -1 . . . . . . . chr14 92572013 92572079 10000 1 ATXN3_chr14_92572132_92572295_F 1 . -1 -1 . -1 . . . . . . . chr14 92572816 92572955 10100 1 ATXN3_chr14_92572132_92572295_F 1 . -1 -1 . -1 . . . . . . . chr14 94841881 94842755 11010 3 SERPINA1_chr14_94849438_94849847_S:SERPINA1_chr14_94850154_94850246_S:SERPINA1_chr14_94851193_94851616_S:SERPINA1_chr14_94853523_94855281_S 4 . -1 -1 . -1 . . . . . . . chr14 94842017 94842305 11010 2 SERPINA1_chr14_94849438_94849847_S:SERPINA1_chr14_94850154_94850246_S:SERPINA1_chr14_94851193_94851616_S:SERPINA1_chr14_94853523_94855281_S 4 . -1 -1 . -1 . . . . . . . chr14 94843141 94843287 11010 4 SERPINA1_chr14_94849438_94849847_S:SERPINA1_chr14_94850154_94850246_S:SERPINA1_chr14_94851193_94851616_S:SERPINA1_chr14_94853523_94855281_S 4 . -1 -1 . -1 . . . . . . . chr14 94850154 94850246 11010 1 SERPINA1_chr14_94841800_94843287_S:SERPINA1_chr14_95059674_95060800_S 2 . -1 -1 . -1 . . . . . . . chr14 94851367 94851479 11010 1 SERPINA1_chr14_94841800_94843287_S:SERPINA1_chr14_95059674_95060800_S 2 . -1 -1 . -1 . . . . . . . chr14 94853537 94854025 11010 2 SERPINA1_chr14_94841800_94843287_S:SERPINA1_chr14_95059674_95060800_S 2 . -1 -1 . -1 . . . . . . . chr14 94854851 94855219 11010 2 SERPINA1_chr14_94841800_94843287_S:SERPINA1_chr14_95059674_95060800_S 2 chr14 94854896 94854897 CS021763 - 2 DM NULL SERPINA1 Antitrypsin alpha 1 deficiency GGCACCACCACTGACCTGGGACAGTGAATC[G/A]taagtatgcctttcactgcgagaggttctg 12220457 chr14 94856803 94857420 11010 2 SERPINA1_chr14_94860948_94861396_F 1 chr14 94856914 94856915 CR061339 - 3 DP rs8004738 SERPINA1 Chronic obstructive pulmonary disease: association with AGGGGGTCGGGCCTCCGAGGAAGGCCTAGC[C/T]GCTGCTGCTGCCAGGAATTCCAGGTTGGAG 16278826 chr14 94858870 94859262 11000 2 SERPINA1_chr14_94860948_94861396_F 1 . -1 -1 . -1 . . . . . . . chr14 94859907 94860151 11010 4 SERPINA1_chr14_94860948_94861396_F 1 . -1 -1 . -1 . . . . . . . chr14 94860398 94860782 11000 3 SERPINA1_chr14_94860948_94861396_F 1 . -1 -1 . -1 . . . . . . . chr14 94860648 94860782 11000 3 SERPINA1_chr14_94856528_94861373_F 1 . -1 -1 . -1 . . . . . . . chr14 94860945 94861373 00000 4 SERPINA1_chr14_94860948_94861396_F 1 . -1 -1 . -1 . . . . . . . chr14 94860945 94861696 00000 4 SERPINA1_chr14_94856528_94861373_F 1 . -1 -1 . -1 . . . . . . . chr14 94919076 94919288 11111 3 SERPINA11_chr14_95146843_95147200_S 1 . -1 -1 . -1 . . . . . . . chr14 95060309 95060639 10000 3 SERPINA1_chr14_94849438_94849847_S:SERPINA1_chr14_94850154_94850246_S:SERPINA1_chr14_94851193_94851616_S:SERPINA1_chr14_94853523_94855281_S 4 . -1 -1 . -1 . . . . . . . chr14 95146843 95147200 11000 2 SERPINA11_chr14_94918862_94919400_S 1 . -1 -1 . -1 . . . . . . . chr14 95785800 95785917 11100 1 CLMN_chr14_95789157_95789358_F 1 . -1 -1 . -1 . . . . . . . chr14 102275639 102275818 11010 2 PPP2R5C_chr14_102277268_102277494_F 1 . -1 -1 . -1 . . . . . . . chr14 102276636 102276769 11010 1 PPP2R5C_chr14_102277268_102277494_F 1 . -1 -1 . -1 . . . . . . . chr14 102553751 102553970 10000 1 HSP90AA1_chr14_102554875_102555215_F 1 . -1 -1 . -1 . . . . . . . chr15 31618590 31618898 11111 1 KLF13_chr15_31617195_31617521_F:KLF13_chr15_31620735_31621235_F 2 . -1 -1 . -1 . . . . . . . chr15 31620349 31620557 11111 1 KLF13_chr15_31620735_31621235_F 1 . -1 -1 . -1 . . . . . . . chr15 31620435 31620557 11111 1 KLF13_chr15_31618582_31621186_F 1 . -1 -1 . -1 . . . . . . . chr15 34629867 34630039 10000 1 SLC12A6_chr15_34627277_34627936_F:SLC12A6_chr15_34627277_34627936_F 2 . -1 -1 . -1 . . . . . . . chr15 39873964 39874083 10000 1 THBS1_chr15_39464492_39464600_S 1 . -1 -1 . -1 . . . . . . . chr15 40294488 40294787 11000 3 THBS1_chr15_39872454_39873695_S 1 . -1 -1 . -1 . . . . . . . chr15 40398844 40399014 11000 3 BMF_chr15_40397040_40397227_F:BMF_chr15_40397040_40397227_F:BMF_chr15_40397293_40397725_F:BMF_chr15_40397293_40397725_F 4 . -1 -1 . -1 . . . . . . . chr15 40399634 40399792 10000 2 BMF_chr15_40397040_40397227_F:BMF_chr15_40397293_40397725_F 2 . -1 -1 . -1 . . . . . . . chr15 41186443 41186716 11100 1 VPS18_chr15_41185333_41185514_F 1 . -1 -1 . -1 . . . . . . . chr15 42264918 42265246 11100 2 EHD4_chr15_42261117_42261163_F:EHD4_chr15_42262075_42262564_F 2 . -1 -1 . -1 . . . . . . . chr15 42787621 42787898 10000 3 SNAP23_chr15_42786035_42786158_F 1 . -1 -1 . -1 . . . . . . . chr15 44955885 44956028 11101 1 SPG11_chr15_44954800_44955080_F 1 . -1 -1 . -1 . . . . . . . chr15 45003997 45004143 11000 1 B2M_chr15_45004703_45005017_F:B2M_chr15_45005185_45005759_F 2 . -1 -1 . -1 . . . . . . . chr15 45926755 45926996 10000 3 SQRDL_chr15_45929603_45930187_F:SQRDL_chr15_45930863_45931040_F 2 . -1 -1 . -1 . . . . . . . chr15 45927596 45927748 10000 1 SQRDL_chr15_45929603_45930187_F:SQRDL_chr15_45930863_45931040_F 2 . -1 -1 . -1 . . . . . . . chr15 45929849 45930050 10000 1 SQRDL_chr15_45926755_45930096_F:SQRDL_chr15_45929603_45930187_F:SQRDL_chr15_45930863_45931040_F 3 . -1 -1 . -1 . . . . . . . chr15 49148094 49148184 10000 1 SECISBP2L_chr15_49338087_49339044_S 1 . -1 -1 . -1 . . . . . . . chr15 49338633 49338876 11000 1 SECISBP2L_chr15_49148000_49148184_S 1 . -1 -1 . -1 . . . . . . . chr15 50474202 50474459 11101 1 SLC27A2_chr15_50475759_50476090_F 1 . -1 -1 . -1 . . . . . . . chr15 52028926 52029192 11101 2 LYSMD2_chr15_52028351_52028526_F 1 . -1 -1 . -1 . . . . . . . chr15 52030134 52030458 10000 2 LYSMD2_chr15_52028351_52028526_F 1 . -1 -1 . -1 . . . . . . . chr15 52404344 52404606 10000 1 BCL2L10_chr15_52402379_52402574_F 1 . -1 -1 . -1 . . . . . . . chr15 53077495 53078250 11101 3 ONECUT1_chr15_53077793_53082709_F 1 . -1 -1 . -1 . . . . . . . chr15 53077793 53078250 11101 3 ONECUT1_chr15_53077795_53078191_F 1 . -1 -1 . -1 . . . . . . . chr15 53078738 53078974 11100 2 ONECUT1_chr15_53077795_53078191_F 1 . -1 -1 . -1 . . . . . . . chr15 53081102 53081303 11101 1 ONECUT1_chr15_53077795_53078191_F 1 . -1 -1 . -1 . . . . . . . chr15 53082594 53082709 11101 1 ONECUT1_chr15_53077795_53078191_F 1 . -1 -1 . -1 . . . . . . . chr15 55488999 55489374 11000 2 RSL24D1_chr15_55487983_55488563_F 1 . -1 -1 . -1 . . . . . . . chr15 55581197 55581451 10000 2 RAB27A_chr15_55581016_55581448_F:RAB27A_chr15_55581032_55582513_F 2 . -1 -1 . -1 . . . . . . . chr15 55581897 55582088 11000 1 RAB27A_chr15_55581016_55581448_F 1 . -1 -1 . -1 . . . . . . . chr15 55582417 55582513 11000 2 RAB27A_chr15_55581016_55581448_F 1 . -1 -1 . -1 . . . . . . . chr15 57210541 57210999 11101 1 ZNF280D_chr15_57788512_57790288_S 1 . -1 -1 . -1 . . . . . . . chr15 57211926 57212101 10100 1 ZNF280D_chr15_57788512_57790288_S 1 . -1 -1 . -1 . . . . . . . chr15 57788901 57789058 10100 1 ZNF280D_chr15_57210498_57212336_S 1 . -1 -1 . -1 . . . . . . . chr15 57789356 57789532 11001 3 ZNF280D_chr15_57210498_57212336_S 1 . -1 -1 . -1 . . . . . . . chr15 58430240 58430500 11101 2 AQP9_chr15_58433507_58434052_F 1 . -1 -1 . -1 . . . . . . . chr15 58431104 58431348 11101 1 AQP9_chr15_58433507_58434052_F 1 . -1 -1 . -1 . . . . . . . chr15 58431559 58432578 10101 3 AQP9_chr15_58433507_58434052_F 1 . -1 -1 . -1 . . . . . . . chr15 58434140 58434352 11101 2 AQP9_chr15_58429907_58433980_F 1 . -1 -1 . -1 . . . . . . . chr15 59978352 59978413 10000 3 BNIP2_chr15_59978524_59982142_F 1 . -1 -1 . -1 . . . . . . . chr15 59979101 59979243 10000 1 BNIP2_chr15_59978652_59978797_F 1 . -1 -1 . -1 . . . . . . . chr15 59980644 59980786 10000 2 BNIP2_chr15_59978652_59978797_F 1 . -1 -1 . -1 . . . . . . . chr15 59981491 59982142 11100 3 BNIP2_chr15_59978652_59978797_F 1 . -1 -1 . -1 . . . . . . . chr15 60666920 60667112 10000 1 GTF2A2_chr15_59949298_59949977_S 1 . -1 -1 . -1 . . . . . . . chr15 60883217 60883394 11101 3 RORA_chr15_60881604_60881753_F:RORA_chr15_60883338_60885207_F 2 . -1 -1 . -1 . . . . . . . chr15 60883338 60883394 11101 3 RORA_chr15_60883059_60884017_F 1 . -1 -1 . -1 . . . . . . . chr15 60884699 60885176 10101 3 RORA_chr15_60881604_60881753_F:RORA_chr15_60883059_60884017_F 2 . -1 -1 . -1 . . . . . . . chr15 63340308 63340550 11101 1 TPM1_chr15_63766400_63767570_S 1 . -1 -1 . -1 . . . . . . . chr15 63766400 63766745 10000 2 CSNK1G1_chr15_64647682_64648796_S:FBXL22_chr15_63891790_63893879_S:PPIB_chr15_64454737_64455822_S:TPM1_chr15_63340166_63341526_S:TRIP4_chr15_64679678_64680309_S:USP3_chr15_63795289_63797980_S 6 . -1 -1 . -1 . . . . . . . chr15 63795437 63795744 10000 2 USP3_chr15_63766400_63767570_S 1 . -1 -1 . -1 . . . . . . . chr15 63796698 63796891 10000 2 USP3_chr15_63766400_63767570_S 1 . -1 -1 . -1 . . . . . . . chr15 63797697 63797824 10000 1 USP3_chr15_63766400_63767570_S 1 . -1 -1 . -1 . . . . . . . chr15 63892777 63893104 11101 3 FBXL22_chr15_63766400_63767570_S 1 . -1 -1 . -1 . . . . . . . chr15 64455349 64455660 11101 2 PPIB_chr15_63766400_63767570_S 1 . -1 -1 . -1 . . . . . . . chr15 64648357 64648488 11000 1 CSNK1G1_chr15_63766400_63767570_S 1 . -1 -1 . -1 . . . . . . . chr15 64679897 64680083 11000 2 TRIP4_chr15_63766400_63767570_S 1 . -1 -1 . -1 . . . . . . . chr15 66790025 66790218 11000 2 SNAPC5_chr15_67397400_67398200_S:SNAPC5_chr15_67439200_67440165_S 2 . -1 -1 . -1 . . . . . . . chr15 67439412 67439634 10000 2 SNAPC5_chr15_66789411_66790600_S 1 . -1 -1 . -1 . . . . . . . chr15 69452489 69452967 10101 1 GLCE_chr15_69453904_69454158_F 1 . -1 -1 . -1 . . . . . . . chr15 69453971 69454079 11001 1 GLCE_chr15_69452472_69454232_F:GLCE_chr15_69453904_69454158_F 2 . -1 -1 . -1 . . . . . . . chr15 70390146 70390432 11101 2 TLE3_chr15_70391261_70391735_F:TLE3_chr15_70391851_70392235_F:TLE3_chr15_70392397_70392607_F:TLE3_chr15_70392960_70393272_F 4 . -1 -1 . -1 . . . . . . . chr15 70391836 70392035 11100 2 TLE3_chr15_70389755_70391699_F 1 . -1 -1 . -1 . . . . . . . chr15 70391836 70392190 11100 2 TLE3_chr15_70389755_70392244_F:TLE3_chr15_70391851_70392235_F:TLE3_chr15_70392397_70392607_F:TLE3_chr15_70392960_70393272_F 4 . -1 -1 . -1 . . . . . . . chr15 70392097 70392190 11100 2 TLE3_chr15_70389755_70392703_F 1 . -1 -1 . -1 . . . . . . . chr15 71149246 71149429 10000 1 LARP6_chr15_71145997_71149455_F:LARP6_chr15_71149072_71149436_F 2 . -1 -1 . -1 . . . . . . . chr15 72668349 72668500 11101 1 HEXA_chr15_72671459_72671771_F 1 . -1 -1 . -1 . . . . . . . chr15 73076030 73076217 11101 2 ADPGK_chr15_73077755_73078078_F 1 . -1 -1 . -1 . . . . . . . chr15 73076720 73077103 11000 2 ADPGK_chr15_73077755_73078078_F 1 . -1 -1 . -1 . . . . . . . chr15 74286907 74287106 11101 1 PML_chr15_74287730_74287905_F:PML_chr15_74289381_74289564_F 2 . -1 -1 . -1 . . . . . . . chr15 74833280 74833392 10100 1 ARID3B_chr15_74834290_74834419_F 1 . -1 -1 . -1 . . . . . . . chr15 75017780 75017900 10000 1 CYP1A1_chr15_75018665_75019349_F 1 . -1 -1 . -1 . . . . . . . chr15 75018285 75018469 10000 1 CYP1A1_chr15_75018665_75019349_F 1 . -1 -1 . -1 . . . . . . . chr15 75018365 75018469 10000 1 CYP1A1_chr15_75017376_75019208_F 1 . -1 -1 . -1 . . . . . . . chr15 75018699 75019208 10000 1 CYP1A1_chr15_75018665_75019349_F 1 . -1 -1 . -1 . . . . . . . chr15 75018699 75019482 10000 1 CYP1A1_chr15_75017376_75019208_F 1 . -1 -1 . -1 . . . . . . . chr15 75073317 75073573 11100 2 CSK_chr15_75073407_75074925_F 1 . -1 -1 . -1 . . . . . . . chr15 75073407 75073573 11100 2 CSK_chr15_75073348_75073866_F 1 . -1 -1 . -1 . . . . . . . chr15 75660244 75660522 11101 1 MAN2C1_chr15_75437271_75438449_S 1 . -1 -1 . -1 . . . . . . . chr15 75660932 75661145 11101 1 MAN2C1_chr15_75437271_75438449_S 1 . -1 -1 . -1 . . . . . . . chr15 75744033 75744231 11101 1 SIN3A_chr15_75744907_75745094_F:SIN3A_chr15_75744907_75745094_F:SIN3A_chr15_75745296_75745530_F:SIN3A_chr15_75745296_75745530_F:SIN3A_chr15_75746315_75746749_F:SIN3A_chr15_75746315_75746749_F 6 . -1 -1 . -1 . . . . . . . chr15 75746281 75746733 11101 3 SIN3A_chr15_75746315_75746749_F:SIN3A_chr15_75746315_75746749_F 2 . -1 -1 . -1 . . . . . . . chr15 75746281 75746826 11101 3 SIN3A_chr15_75743425_75746733_F:SIN3A_chr15_75743586_75746733_F:SIN3A_chr15_75744907_75745094_F:SIN3A_chr15_75745296_75745530_F:SIN3A_chr15_75746332_75748624_F 5 . -1 -1 . -1 . . . . . . . chr15 75746332 75746826 11101 3 SIN3A_chr15_75746315_75746749_F 1 . -1 -1 . -1 . . . . . . . chr15 75748565 75748624 10100 1 SIN3A_chr15_75744907_75745094_F:SIN3A_chr15_75745296_75745530_F:SIN3A_chr15_75746315_75746749_F:SIN3A_chr15_75747348_75747533_F 4 . -1 -1 . -1 . . . . . . . chr15 78369477 78369640 10000 1 TBC1D2B_chr15_78368268_78368362_F 1 . -1 -1 . -1 . . . . . . . chr15 79236805 79236957 11101 1 CTSH_chr15_79234527_79234916_F 1 . -1 -1 . -1 . . . . . . . chr15 80189181 80189585 10000 1 MTHFS_chr15_80192489_80192729_F:MTHFS_chr15_80192489_80192729_F 2 . -1 -1 . -1 . . . . . . . chr15 80191208 80191451 10000 3 MTHFS_chr15_80192489_80192729_F:MTHFS_chr15_80192489_80192729_F 2 . -1 -1 . -1 . . . . . . . chr15 80260092 80260242 10000 1 BCL2A1_chr15_80259231_80259586_F 1 . -1 -1 . -1 . . . . . . . chr15 80260188 80260242 10000 1 BCL2A1_chr15_80260449_80264143_F 1 . -1 -1 . -1 . . . . . . . chr15 80260797 80260975 11000 1 BCL2A1_chr15_80259231_80259586_F:BCL2A1_chr15_80260449_80264143_F:BCL2A1_chr15_80260488_80260810_F 3 . -1 -1 . -1 . . . . . . . chr15 80264532 80264694 11000 1 BCL2A1_chr15_80265919_80266168_F 1 . -1 -1 . -1 . . . . . . . chr15 80265295 80265501 11000 3 BCL2A1_chr15_80265919_80266168_F 1 . -1 -1 . -1 . . . . . . . chr15 83478068 83478349 10000 2 WHAMM_chr15_83479679_83480264_F 1 . -1 -1 . -1 . . . . . . . chr15 83479289 83479485 10000 2 WHAMM_chr15_83479679_83480264_F 1 . -1 -1 . -1 . . . . . . . chr15 83479379 83479485 10000 2 WHAMM_chr15_83477472_83480172_F 1 . -1 -1 . -1 . . . . . . . chr15 85362118 85362291 10000 1 ALPK3_chr15_85359410_85362019_F 1 . -1 -1 . -1 . . . . . . . chr15 89181538 89182790 11001 3 ISG20_chr15_89183173_89183667_F 1 . -1 -1 . -1 . . . . . . . chr15 89183117 89183432 11000 1 ISG20_chr15_89181538_89183621_F:ISG20_chr15_89183173_89183667_F 2 . -1 -1 . -1 . . . . . . . chr15 89878170 89878576 11111 2 23612_chr15_90349600_90351000_S 1 chr15 89878391 89878392 CR125757 - 3 DFP rs2856268 POLG Breast cancer: protection against: association with GTTCCTGAGGGAGGAATAAACTAAAAGTTA[A/G]TCATAACCTCCCTTCGACCGCGGCAGGACT 22684821 chr15 90349761 90350299 11110 3 23612_chr15_89877399_89878585_S 1 . -1 -1 . -1 . . . . . . . chr15 90357991 90358168 10000 1 ANPEP_chr15_90357155_90357491_F 1 . -1 -1 . -1 . . . . . . . chr15 90546488 90546763 10000 3 ZNF710_chr15_90547619_90547737_F 1 . -1 -1 . -1 . . . . . . . chr15 93340419 93340558 11000 1 ASB9P1_chr15_93460800_93461278_S 1 . -1 -1 . -1 . . . . . . . chr15 93351578 93351779 10000 1 FAM174B_chr15_93460800_93461278_S:FAM174B_chr15_93461373_93461610_S 2 . -1 -1 . -1 . . . . . . . chr15 93352266 93352954 10000 3 FAM174B_chr15_93460800_93461278_S:FAM174B_chr15_93461373_93461610_S 2 . -1 -1 . -1 . . . . . . . chr15 93443531 93443692 11111 1 CHD2_chr15_93460800_93461278_S 1 . -1 -1 . -1 . . . . . . . chr15 93447391 93447830 11111 2 CHD2_chr15_93460800_93461278_S 1 . -1 -1 . -1 . . . . . . . chr15 93460902 93461058 11001 2 ASB9P1_chr15_93340419_93340558_S:CHD2_chr15_93426340_93426795_S:CHD2_chr15_93426972_93427076_S:CHD2_chr15_93443200_93443877_S:CHD2_chr15_93446995_93447931_S:FAM174B_chr15_93351332_93353142_S 6 . -1 -1 . -1 . . . . . . . chr15 93461223 93461278 11101 1 ASB9P1_chr15_93340419_93340558_S:CHD2_chr15_93426340_93426795_S:CHD2_chr15_93426972_93427076_S:CHD2_chr15_93443200_93443877_S:CHD2_chr15_93446995_93447931_S:FAM174B_chr15_93351332_93353142_S 6 . -1 -1 . -1 . . . . . . . chr15 93461373 93461540 11101 1 FAM174B_chr15_93351332_93353142_S 1 . -1 -1 . -1 . . . . . . . chr15 96867548 96867720 11000 2 NR2F2_chr15_96867766_96869657_F 1 . -1 -1 . -1 . . . . . . . chr15 96869331 96869489 11011 1 NR2F2_chr15_96867848_96868085_F:NR2F2_chr15_96871345_96871608_F 2 . -1 -1 . -1 . . . . . . . chr15 96869928 96870210 11111 1 NR2F2_chr15_96871345_96871608_F 1 . -1 -1 . -1 . . . . . . . chr15 96870543 96870671 11111 1 NR2F2_chr15_96871345_96871608_F 1 . -1 -1 . -1 . . . . . . . chr15 96872986 96873129 11111 1 NR2F2_chr15_96871345_96871608_F 1 . -1 -1 . -1 . . . . . . . chr15 96873782 96873970 10111 2 NR2F2_chr15_96871345_96871608_F 1 . -1 -1 . -1 . . . . . . . chr15 101835406 101835571 11111 1 SNRPA1_chr15_101834172_101834455_F 1 . -1 -1 . -1 . . . . . . . chr15 101978624 101978836 10000 2 TM2D3_chr15_102192070_102193300_S 1 . -1 -1 . -1 . . . . . . . chr15 101979577 101980102 11111 4 TM2D3_chr15_102192070_102193300_S 1 . -1 -1 . -1 . . . . . . . chr15 102192562 102192672 11010 1 TM2D3_chr15_101978106_101980200_S 1 . -1 -1 . -1 . . . . . . . chr16 642808 643056 11000 2 RAB40C_chr16_643606_643989_F:RAB40C_chr16_643606_643989_F 2 . -1 -1 . -1 . . . . . . . chr16 643570 643750 11000 2 RAB40C_chr16_639576_643998_F:RAB40C_chr16_639672_643998_F:RAB40C_chr16_643606_643989_F:RAB40C_chr16_643606_643989_F 4 . -1 -1 . -1 . . . . . . . chr16 1128582 1128831 10000 1 SSTR5_chr16_1132307_1132794_F 1 . -1 -1 . -1 . . . . . . . chr16 1131815 1132036 10000 1 SSTR5_chr16_1132307_1132794_F 1 . -1 -1 . -1 . . . . . . . chr16 1132007 1132036 10000 1 SSTR5_chr16_1128280_1132751_F 1 . -1 -1 . -1 . . . . . . . chr16 1381786 1382020 11000 1 BAIAP3_chr16_1381809_1384106_F:BAIAP3_chr16_1381809_1386698_F 2 . -1 -1 . -1 . . . . . . . chr16 1381809 1382020 11000 1 BAIAP3_chr16_1381826_1382192_F:BAIAP3_chr16_1381826_1382192_F 2 . -1 -1 . -1 . . . . . . . chr16 1525000 1525114 11000 1 CLCN7_chr16_1522812_1522824_F 1 . -1 -1 . -1 . . . . . . . chr16 1739200 1739440 11000 3 AMDHD2_chr16_2570096_2570541_S:RPS2_chr16_2010918_2011568_S:TRAF7_chr16_2202314_2204451_S:TRAF7_chr16_2204696_2206412_S 4 . -1 -1 . -1 . . . . . . . chr16 2058548 2058904 10101 2 ZNF598_chr16_2057818_2059084_F:ZNF598_chr16_2058251_2060263_F 2 . -1 -1 . -1 . . . . . . . chr16 2202668 2203213 11000 3 TRAF7_chr16_1739200_1739600_S 1 . -1 -1 . -1 . . . . . . . chr16 2203629 2204171 11100 2 TRAF7_chr16_1739200_1739600_S 1 . -1 -1 . -1 . . . . . . . chr16 2205542 2205733 11111 1 TRAF7_chr16_1739200_1739600_S 1 . -1 -1 . -1 . . . . . . . chr16 2518455 2518671 10101 1 NTN3_chr16_2518416_2522000_F:NTN3_chr16_2518541_2518691_F 2 . -1 -1 . -1 . . . . . . . chr16 2518460 2518671 10101 1 NTN3_chr16_2518815_2522000_F 1 . -1 -1 . -1 . . . . . . . chr16 2581999 2582177 10101 2 CEMP1_chr16_2582505_2583298_F 1 . -1 -1 . -1 . . . . . . . chr16 2582601 2582777 10101 1 CEMP1_chr16_2580908_2583102_F:CEMP1_chr16_2582505_2583298_F 2 . -1 -1 . -1 . . . . . . . chr16 3309197 3309452 11010 2 MEFV_chr16_3306126_3309535_F:MEFV_chr16_3309129_3309539_F:MEFV_chr16_3309979_3310124_F 3 . -1 -1 . -1 . . . . . . . chr16 3309927 3310094 10000 2 MEFV_chr16_3306126_3310252_F:MEFV_chr16_3309979_3310124_F 2 . -1 -1 . -1 . . . . . . . chr16 3550856 3551077 10010 1 CLUAP1_chr16_4340200_4340811_S 1 . -1 -1 . -1 . . . . . . . chr16 4321891 4322082 11111 1 TFAP4_chr16_4321625_4322178_F:TFAP4_chr16_4321701_4323501_F 2 . -1 -1 . -1 . . . . . . . chr16 4323011 4323501 11111 3 TFAP4_chr16_4321625_4322178_F 1 . -1 -1 . -1 . . . . . . . chr16 4340308 4340553 10000 2 CLUAP1_chr16_3550768_3551400_S 1 . -1 -1 . -1 . . . . . . . chr16 4588498 4588971 11000 3 C16orf5_chr16_4587360_4587817_F 1 . -1 -1 . -1 . . . . . . . chr16 4588498 4589036 11000 3 C16orf5_chr16_4587360_4587817_F 1 . -1 -1 . -1 . . . . . . . chr16 8891525 8891734 10000 3 PMM2_chr16_8953600_8954400_S 1 . -1 -1 . -1 . . . . . . . chr16 8954043 8954377 10000 3 C16orf72_chr16_9184666_9187154_S:CARHSP1_chr16_8960238_8963332_S:PMM2_chr16_8890963_8892400_S:USP7_chr16_9056600_9057327_S 4 . -1 -1 . -1 . . . . . . . chr16 8960238 8960475 11000 2 CARHSP1_chr16_8953600_8954400_S 1 . -1 -1 . -1 . . . . . . . chr16 8962534 8962682 11100 2 CARHSP1_chr16_8953600_8954400_S 1 . -1 -1 . -1 . . . . . . . chr16 9185062 9185551 11101 2 C16orf72_chr16_8953600_8954400_S 1 . -1 -1 . -1 . . . . . . . chr16 10360200 10360271 10000 3 SOCS1_chr16_11348998_11351744_S 1 . -1 -1 . -1 . . . . . . . chr16 10412666 10412932 11000 4 SOCS1_chr16_11348998_11351744_S 1 . -1 -1 . -1 . . . . . . . chr16 10546676 10546849 10000 1 SOCS1_chr16_11348998_11351744_S 1 . -1 -1 . -1 . . . . . . . chr16 10674022 10674153 10010 1 EMP2_chr16_10672211_10672611_F:EMP2_chr16_10673040_10673400_S 2 . -1 -1 . -1 . . . . . . . chr16 10740625 10740840 10010 3 SOCS1_chr16_11348998_11351744_S 1 . -1 -1 . -1 . . . . . . . chr16 10741695 10741915 11000 3 SOCS1_chr16_11348998_11351744_S 1 . -1 -1 . -1 . . . . . . . chr16 10972647 10972830 10000 2 CIITA_chr16_10973961_10974260_F 1 . -1 -1 . -1 . . . . . . . chr16 10973219 10973458 10000 1 CIITA_chr16_10973961_10974260_F 1 . -1 -1 . -1 . . . . . . . chr16 11352748 11352932 11000 3 SOCS1_chr16_11352629_11352834_F 1 . -1 -1 . -1 . . . . . . . chr16 11352748 11353134 11000 3 SOCS1_chr16_11349538_11352932_F 1 . -1 -1 . -1 . . . . . . . chr16 11405633 11405775 10000 1 SOCS1_chr16_11348998_11351744_S 1 . -1 -1 . -1 . . . . . . . chr16 11677745 11678150 11010 3 LITAF_chr16_11677895_11680729_F:LITAF_chr16_11677895_11681306_F 2 . -1 -1 . -1 . . . . . . . chr16 11677895 11678150 11010 3 LITAF_chr16_11677764_11678427_F:LITAF_chr16_11677764_11678427_F 2 . -1 -1 . -1 . . . . . . . chr16 11678553 11678718 10000 1 LITAF_chr16_11677764_11678427_F:LITAF_chr16_11677764_11678427_F:LITAF_chr16_11677895_11680729_F:LITAF_chr16_11677895_11681306_F 4 . -1 -1 . -1 . . . . . . . chr16 11891174 11891340 11000 3 ZC3H7A_chr16_11890330_11890418_F:ZC3H7A_chr16_11894292_11894377_F 2 . -1 -1 . -1 . . . . . . . chr16 12008580 12008699 10000 1 GSPT1_chr16_12737547_12739199_S 1 . -1 -1 . -1 . . . . . . . chr16 12009793 12010145 10000 1 GSPT1_chr16_12737547_12739199_S 1 . -1 -1 . -1 . . . . . . . chr16 12737827 12738163 11000 3 GSPT1_chr16_12008580_12010921_S 1 . -1 -1 . -1 . . . . . . . chr16 12738929 12739199 10000 2 GSPT1_chr16_12008580_12010921_S 1 . -1 -1 . -1 . . . . . . . chr16 13363897 13364279 10000 3 ERCC4_chr16_14013292_14013384_S:ERCC4_chr16_14013503_14014624_S 2 . -1 -1 . -1 . . . . . . . chr16 14013618 14013742 10000 1 ERCC4_chr16_13363335_13364579_S:ERCC4_chr16_14579891_14580600_S:ERCC4_chr16_14604434_14605806_S:ERCC4_chr16_14638685_14640029_S 4 chr16 14013666 14013667 CR102187 + 3 DFP rs6498486 ERCC4 Bladder cancer: increased risk: association with CTTGAGGCTAGGGTGCCAGGGGATGTGGAA[A/C]CTCAAAAGAGACGTGAATGGAGCCTGATAT 20062074 chr16 14580089 14580413 10011 2 ERCC4_chr16_14013503_14014624_S 1 . -1 -1 . -1 . . . . . . . chr16 14604477 14605208 11010 3 ERCC4_chr16_14013292_14013384_S:ERCC4_chr16_14013503_14014624_S 2 . -1 -1 . -1 . . . . . . . chr16 14639395 14639626 11000 3 ERCC4_chr16_14013292_14013384_S:ERCC4_chr16_14013503_14014624_S 2 . -1 -1 . -1 . . . . . . . chr16 15068785 15069027 00000 1 PDXDC1_chr16_15069619_15069687_F 1 . -1 -1 . -1 . . . . . . . chr16 15576074 15576460 10000 3 NDE1_chr16_15735817_15737841_S 1 . -1 -1 . -1 . . . . . . . chr16 15701488 15702038 10000 2 NDE1_chr16_15735817_15737841_S 1 . -1 -1 . -1 . . . . . . . chr16 15702323 15702657 10000 3 NDE1_chr16_15735817_15737841_S 1 . -1 -1 . -1 . . . . . . . chr16 15736989 15737169 10000 1 NDE1_chr16_15575869_15576867_S:NDE1_chr16_15701433_15702817_S:NDE1_chr16_16090229_16090995_S 3 . -1 -1 . -1 . . . . . . . chr16 19535091 19535256 11110 2 CCP110_chr16_19532119_19532450_F 1 . -1 -1 . -1 . . . . . . . chr16 19896551 19896651 10000 1 GPRC5B_chr16_19894494_19895110_F 1 . -1 -1 . -1 . . . . . . . chr16 20908710 20908947 11111 2 DCUN1D3_chr16_20908616_20912061_F:DCUN1D3_chr16_20908672_20908960_F:LYRM1_chr16_20908616_20912575_F:LYRM1_chr16_20908672_20908960_F 4 . -1 -1 . -1 . . . . . . . chr16 20909692 20909852 11010 2 DCUN1D3_chr16_20908672_20908960_F:LYRM1_chr16_20908672_20908960_F 2 . -1 -1 . -1 . . . . . . . chr16 20911657 20911921 11111 2 DCUN1D3_chr16_20908672_20908960_F:DCUN1D3_chr16_20913163_20913441_F:LYRM1_chr16_20908672_20908960_F:LYRM1_chr16_20913163_20913441_F:LYRM1_chr16_20915885_20916169_F 5 . -1 -1 . -1 . . . . . . . chr16 20912610 20912792 10000 1 DCUN1D3_chr16_20913163_20913441_F:LYRM1_chr16_20913163_20913441_F:LYRM1_chr16_20915885_20916169_F 3 . -1 -1 . -1 . . . . . . . chr16 21311994 21312068 00000 1 CRYM_chr16_22110048_22110423_S 1 . -1 -1 . -1 . . . . . . . chr16 21312762 21312926 00000 1 CRYM_chr16_22110048_22110423_S 1 . -1 -1 . -1 . . . . . . . chr16 21512957 21513090 10000 2 ENSG00000180747_chr16_21962052_21962800_S:ENSG00000180747_chr16_22364465_22365800_S 2 . -1 -1 . -1 . . . . . . . chr16 21513507 21513831 00000 1 ENSG00000180747_chr16_21962052_21962800_S:ENSG00000180747_chr16_22364465_22365800_S 2 . -1 -1 . -1 . . . . . . . chr16 21610794 21610936 11101 1 METTL9_chr16_21611842_21611954_F 1 . -1 -1 . -1 . . . . . . . chr16 21611886 21612099 11111 1 METTL9_chr16_21611842_21611954_F 1 . -1 -1 . -1 . . . . . . . chr16 21611886 21612108 11111 1 METTL9_chr16_21610355_21612099_F 1 . -1 -1 . -1 . . . . . . . chr16 21661994 21662119 10000 1 IGSF6_chr16_21661795_21664487_F:IGSF6_chr16_21661880_21662110_F:IGSF6_chr16_21662227_21664487_F 3 . -1 -1 . -1 . . . . . . . chr16 22217322 22217606 11111 2 EEF2K_chr16_22221382_22221539_F 1 . -1 -1 . -1 . . . . . . . chr16 22309339 22309516 11101 1 7791_chr16_21962052_21962800_S:7791_chr16_22364465_22365800_S 2 . -1 -1 . -1 . . . . . . . chr16 22364722 22364941 10000 2 7791_chr16_22308082_22310058_S:7791_chr16_22310525_22310617_S:ENSG00000180747_chr16_21512957_21514010_S 3 . -1 -1 . -1 . . . . . . . chr16 22365423 22365742 10000 2 7791_chr16_22308082_22310058_S:7791_chr16_22310525_22310617_S:ENSG00000180747_chr16_21512957_21514010_S 3 . -1 -1 . -1 . . . . . . . chr16 27324750 27324975 11101 3 IL4R_chr16_27326906_27327374_F 1 . -1 -1 . -1 . . . . . . . chr16 27325733 27326062 11000 2 IL4R_chr16_27326906_27327374_F 1 . -1 -1 . -1 . . . . . . . chr16 27326485 27327341 11111 3 IL4R_chr16_27326906_27327374_F 1 . -1 -1 . -1 . . . . . . . chr16 27326606 27327424 11111 3 IL4R_chr16_27324750_27327341_F 1 . -1 -1 . -1 . . . . . . . chr16 28985982 28986114 11111 1 SPNS1_chr16_28560874_28561200_S:SPNS1_chr16_29732800_29733140_S:SPNS1_chr16_29740463_29740649_S 3 . -1 -1 . -1 . . . . . . . chr16 30076887 30077119 11010 1 ALDOA_chr16_29823200_29823369_S:ALDOA_chr16_29830891_29831200_S 2 . -1 -1 . -1 . . . . . . . chr16 30385172 30385363 10000 1 MYLPF_chr16_30383396_30383957_F 1 . -1 -1 . -1 . . . . . . . chr16 30457194 30457670 11011 3 SEPHS2_chr16_30458943_30459145_F 1 . -1 -1 . -1 . . . . . . . chr16 30458843 30459245 11011 3 SEPHS2_chr16_30458943_30459145_F 1 . -1 -1 . -1 . . . . . . . chr16 30458843 30459289 11011 3 SEPHS2_chr16_30456723_30459245_F 1 . -1 -1 . -1 . . . . . . . chr16 30483823 30484194 11000 3 ITGAL_chr16_30482309_30482674_F 1 . -1 -1 . -1 . . . . . . . chr16 30997175 30997396 10111 2 HSD3B7_chr16_30421061_30421200_S:HSD3B7_chr16_30953430_30954023_S 2 . -1 -1 . -1 . . . . . . . chr16 31125186 31125376 10111 2 MYST1_chr16_31125016_31129485_F:MYST1_chr16_31125100_31125333_F 2 . -1 -1 . -1 . . . . . . . chr16 31129290 31129483 10111 2 MYST1_chr16_31125100_31125333_F:MYST1_chr16_31129616_31130225_F 2 . -1 -1 . -1 . . . . . . . chr16 31129316 31129483 10111 2 MYST1_chr16_31128484_31130121_F 1 . -1 -1 . -1 . . . . . . . chr16 46723087 46723247 10000 1 VPS35_chr16_46929411_46930800_S 1 . -1 -1 . -1 . . . . . . . chr16 46916214 46916774 11000 3 GPT2_chr16_46929411_46930800_S 1 . -1 -1 . -1 . . . . . . . chr16 46917737 46917997 11000 3 GPT2_chr16_46929411_46930800_S 1 . -1 -1 . -1 . . . . . . . chr16 46929935 46930162 11000 2 DNAJA2_chr16_47006516_47008031_S:GPT2_chr16_46916052_46919195_S:VPS35_chr16_46722259_46724286_S 3 . -1 -1 . -1 . . . . . . . chr16 47007498 47007781 10111 2 DNAJA2_chr16_46929411_46930800_S 1 . -1 -1 . -1 . . . . . . . chr16 48417430 48417808 10100 3 SIAH1_chr16_48417671_48419729_F 1 . -1 -1 . -1 . . . . . . . chr16 48417671 48417808 10100 3 SIAH1_chr16_48417730_48418013_F 1 . -1 -1 . -1 . . . . . . . chr16 48418127 48418231 10101 1 SIAH1_chr16_48417671_48419729_F:SIAH1_chr16_48417730_48418013_F 2 . -1 -1 . -1 . . . . . . . chr16 48644119 48644239 11101 1 N4BP1_chr16_48645394_48646040_F:N4BP1_chr16_48646666_48646732_F:N4BP1_chr16_48646959_48647547_F 3 . -1 -1 . -1 . . . . . . . chr16 48645760 48645874 10001 1 N4BP1_chr16_48643619_48645918_F:N4BP1_chr16_48645394_48646040_F:N4BP1_chr16_48646666_48646732_F:N4BP1_chr16_48646959_48647547_F 4 . -1 -1 . -1 . . . . . . . chr16 50729635 50729822 10000 2 NOD2_chr16_50729249_50729875_F:NOD2_chr16_50729362_50731550_F 2 . -1 -1 . -1 . . . . . . . chr16 50775530 50776126 11101 2 CYLD_chr16_50774747_50775040_F:CYLD_chr16_50774747_50775040_F 2 . -1 -1 . -1 . . . . . . . chr16 50776441 50776461 11100 1 CYLD_chr16_50774747_50775040_F 1 . -1 -1 . -1 . . . . . . . chr16 50776441 50776529 11100 1 CYLD_chr16_50774747_50775040_F 1 . -1 -1 . -1 . . . . . . . chr16 51182583 51182796 11110 2 SALL1_chr16_51182469_51185008_F:SALL1_chr16_51182469_51185683_F:SALL1_chr16_51182471_51182868_F:SALL1_chr16_51182471_51182868_F 4 . -1 -1 . -1 . . . . . . . chr16 51185306 51185683 11111 2 SALL1_chr16_51182471_51182868_F:SALL1_chr16_51183106_51183414_F 2 . -1 -1 . -1 . . . . . . . chr16 55601451 55601568 10000 1 CAPNS2_chr16_55602137_55602452_F 1 . -1 -1 . -1 . . . . . . . chr16 56553959 56554077 10000 1 BBS2_chr16_56550060_56550247_F 1 . -1 -1 . -1 . . . . . . . chr16 56640754 56641415 11010 3 MT2A_chr16_56641092_56642978_F 1 . -1 -1 . -1 . . . . . . . chr16 56641092 56641415 11010 3 MT2A_chr16_56641054_56641530_F 1 . -1 -1 . -1 . . . . . . . chr16 56642177 56642584 11010 1 MT2A_chr16_56641054_56641530_F:MT2A_chr16_56645516_56645845_F 2 chr16 56642491 56642492 CR066330 + 3 DFP rs28366003 MT2A Cellular response to cadmium: association with TCTAGCTATAAACACTGCTTGCCGCGCTGC[A/G]CTCCACCACGCCTCCTCCAAGTCCCAGCGA 16927099 chr16 56644272 56644903 11010 4 MT2A_chr16_56645516_56645845_F 1 . -1 -1 . -1 . . . . . . . chr16 56645370 56645865 11010 3 MT2A_chr16_56641977_56645881_F:MT2A_chr16_56645516_56645845_F 2 . -1 -1 . -1 . . . . . . . chr16 56965773 56966045 11110 3 HERPUD1_chr16_57411000_57412140_S 1 . -1 -1 . -1 . . . . . . . chr16 56966941 56967202 11110 3 HERPUD1_chr16_57411000_57412140_S 1 . -1 -1 . -1 . . . . . . . chr16 57406059 57406315 10000 1 CX3CL1_chr16_57411000_57412140_S 1 . -1 -1 . -1 . . . . . . . chr16 57406690 57406970 10000 2 CX3CL1_chr16_57411000_57412140_S 1 . -1 -1 . -1 . . . . . . . chr16 57451214 57451235 10001 1 ENSG00000140859_chr16_57815600_57817081_S 1 . -1 -1 . -1 . . . . . . . chr16 57451925 57452172 10000 2 ENSG00000140859_chr16_57815600_57817081_S 1 . -1 -1 . -1 . . . . . . . chr16 57701344 57701574 10000 1 GPR97_chr16_57701111_57701632_F:GPR97_chr16_57701171_57702657_F 2 . -1 -1 . -1 . . . . . . . chr16 57769072 57769452 10111 3 ENSG00000140854_chr16_57411000_57412140_S 1 . -1 -1 . -1 . . . . . . . chr16 57770836 57771026 10000 2 ENSG00000140854_chr16_57411000_57412140_S 1 . -1 -1 . -1 . . . . . . . chr16 57816642 57816946 10000 3 ENSG00000140859_chr16_56998298_56998535_S:ENSG00000140859_chr16_57079422_57079877_S:ENSG00000140859_chr16_57411000_57412140_S:ENSG00000140859_chr16_57451214_57452281_S:ENSG00000140859_chr16_58521470_58521680_S 5 . -1 -1 . -1 . . . . . . . chr16 57844220 57844480 11000 2 C16orf80_chr16_58162643_58163797_S 1 . -1 -1 . -1 . . . . . . . chr16 58058519 58059091 11110 2 MMP15_chr16_57411000_57412140_S 1 . -1 -1 . -1 . . . . . . . chr16 58059343 58059714 11100 1 MMP15_chr16_57411000_57412140_S 1 . -1 -1 . -1 . . . . . . . chr16 58160643 58161181 11111 3 C16orf80_chr16_58159860_58159971_F:C16orf80_chr16_58160791_58163796_F 2 . -1 -1 . -1 . . . . . . . chr16 58160791 58161181 11111 3 C16orf80_chr16_58160772_58161211_F 1 . -1 -1 . -1 . . . . . . . chr16 58162142 58162380 11101 4 C16orf80_chr16_58159860_58159971_F:C16orf80_chr16_58160772_58161211_F 2 . -1 -1 . -1 . . . . . . . chr16 58163269 58163796 11111 2 C16orf80_chr16_58159860_58159971_F:C16orf80_chr16_58160772_58161211_F 2 . -1 -1 . -1 . . . . . . . chr16 58163269 58163797 11111 2 C16orf80_chr16_57411000_57412140_S:C16orf80_chr16_57510028_57510200_S:C16orf80_chr16_57843782_57845046_S 3 . -1 -1 . -1 . . . . . . . chr16 67030358 67030622 11000 4 CES4A_chr16_67030255_67034916_F:CES4A_chr16_67030331_67030579_F 2 . -1 -1 . -1 . . . . . . . chr16 67150596 67151046 10000 2 EDC4_chr16_67906698_67907604_S:LCAT_chr16_67976400_67978800_S:NFATC3_chr16_68117899_68120061_S:SLC12A4_chr16_68001400_68003889_S 4 . -1 -1 . -1 . . . . . . . chr16 67479484 67479599 11000 2 LCAT_chr16_67976400_67978800_S 1 . -1 -1 . -1 . . . . . . . chr16 67515013 67515295 11111 1 ATP6V0D1_chr16_67513836_67514185_F 1 . -1 -1 . -1 . . . . . . . chr16 67876921 67877117 10100 1 NUTF2_chr16_67891800_67892600_S 1 . -1 -1 . -1 . . . . . . . chr16 67880592 67880800 10111 1 NUTF2_chr16_67891800_67892600_S 1 . -1 -1 . -1 . . . . . . . chr16 67891800 67892040 10000 3 EDC4_chr16_67906698_67907604_S:ESRP2_chr16_68268889_68272117_S:LCAT_chr16_67976400_67978800_S:NFATC3_chr16_68117899_68120061_S:NUTF2_chr16_67875545_67877461_S:NUTF2_chr16_67880179_67881895_S:SLC12A4_chr16_68001400_68003889_S:SLC7A6_chr16_68297818_68299792_S 8 . -1 -1 . -1 . . . . . . . chr16 67906784 67907019 10101 1 EDC4_chr16_67150400_67151167_S:EDC4_chr16_67891800_67892600_S:EDC4_chr16_68302800_68303800_S 3 . -1 -1 . -1 . . . . . . . chr16 67976830 67977556 11111 3 LCAT_chr16_67150400_67151167_S:LCAT_chr16_67479484_67479800_S:LCAT_chr16_67891800_67892600_S:LCAT_chr16_68112986_68113200_S:LCAT_chr16_68314901_68316219_S 5 chr16 67976842 67976843 CM930463 - 1 DM rs28940886 LCAT Lecithin:cholesterol acyltransferase deficiency TACAACCGGAGCTCTGGGCTCGTGTCCAAC[G/A]CCCCTGGTGTCCAGATCCGCGTCCCTGGCT 8432868 chr16 67976830 67977556 11111 3 LCAT_chr16_67150400_67151167_S:LCAT_chr16_67479484_67479800_S:LCAT_chr16_67891800_67892600_S:LCAT_chr16_68112986_68113200_S:LCAT_chr16_68314901_68316219_S 5 chr16 67976848 67976849 CM058320 - 1 DM? NULL LCAT Lecithin:cholesterol acyltransferase deficiency GTTGTCTACAACCGGAGCTCTGGGCTCGTG[T/C]CCAACGCCCCTGGTGTCCAGATCCGCGTCC 15994445 chr16 67976830 67977556 11111 3 LCAT_chr16_67150400_67151167_S:LCAT_chr16_67479484_67479800_S:LCAT_chr16_67891800_67892600_S:LCAT_chr16_68112986_68113200_S:LCAT_chr16_68314901_68316219_S 5 chr16 67976851 67976852 CM140963 - 1 DM rs35673026 LCAT Increased HDL cholesterol levels agGGTTGTCTACAACCGGAGCTCTGGGCTC[G/A]TGTCCAACGCCCCTGGTGTCCAGATCCGCG 24507774 chr16 67976830 67977556 11111 3 LCAT_chr16_67150400_67151167_S:LCAT_chr16_67479484_67479800_S:LCAT_chr16_67891800_67892600_S:LCAT_chr16_68112986_68113200_S:LCAT_chr16_68314901_68316219_S 5 chr16 67976870 67976871 CM930462 - 1 DM rs121908055 LCAT Lecithin:cholesterol acyltransferase deficiency agtggcacccccgccccgcagGGTTGTCTA[C/A]AACCGGAGCTCTGGGCTCGTGTCCAACGCC 8432868 chr16 67976830 67977556 11111 3 LCAT_chr16_67150400_67151167_S:LCAT_chr16_67479484_67479800_S:LCAT_chr16_67891800_67892600_S:LCAT_chr16_68112986_68113200_S:LCAT_chr16_68314901_68316219_S 5 chr16 67976969 67976970 CM086845 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency TTCCTACCCCTTGGGGTAGACTGCTGGATC[G/A]ATAACACCAGgtacagccatgtgctccacc 18397721 chr16 67976830 67977556 11111 3 LCAT_chr16_67150400_67151167_S:LCAT_chr16_67479484_67479800_S:LCAT_chr16_67891800_67892600_S:LCAT_chr16_68112986_68113200_S:LCAT_chr16_68314901_68316219_S 5 chr16 67976974 67976975 CM119387 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency ACATGTTCCTACCCCTTGGGGTAGACTGCT[G/C]GATCGATAACACCAGgtacagccatgtgct 21901787 chr16 67976830 67977556 11111 3 LCAT_chr16_67150400_67151167_S:LCAT_chr16_67479484_67479800_S:LCAT_chr16_67891800_67892600_S:LCAT_chr16_68112986_68113200_S:LCAT_chr16_68314901_68316219_S 5 chr16 67976975 67976976 CM074914 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency AACATGTTCCTACCCCTTGGGGTAGACTGC[T/C]GGATCGATAACACCAGgtacagccatgtgc 17526537 chr16 67976830 67977556 11111 3 LCAT_chr16_67150400_67151167_S:LCAT_chr16_67479484_67479800_S:LCAT_chr16_67891800_67892600_S:LCAT_chr16_68112986_68113200_S:LCAT_chr16_68314901_68316219_S 5 chr16 67976984 67976985 CD984654 - 5 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency GCTGGATCTCAACATGTTCCTACCCCTTGG[GG/-]TAGACTGCTGGATCGATAACACCAGGTACA 9746267 chr16 67976830 67977556 11111 3 LCAT_chr16_67150400_67151167_S:LCAT_chr16_67479484_67479800_S:LCAT_chr16_67891800_67892600_S:LCAT_chr16_68112986_68113200_S:LCAT_chr16_68314901_68316219_S 5 chr16 67976987 67976988 CM066907 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency TGGCTGGATCTCAACATGTTCCTACCCCTT[G/C]GGGTAGACTGCTGGATCGATAACACCAGgt 16216249 chr16 67976830 67977556 11111 3 LCAT_chr16_67150400_67151167_S:LCAT_chr16_67479484_67479800_S:LCAT_chr16_67891800_67892600_S:LCAT_chr16_68112986_68113200_S:LCAT_chr16_68314901_68316219_S 5 chr16 67977016 67977017 CM045659 - 1 DM NULL LCAT Reduced high density lipoprotein-cholesterol ACCGCAAGACAGAGGACTTCTTCACCATCT[G/A]GCTGGATCTCAACATGTTCCTACCCCTTGG 15297675 chr16 67976830 67977556 11111 3 LCAT_chr16_67150400_67151167_S:LCAT_chr16_67479484_67479800_S:LCAT_chr16_67891800_67892600_S:LCAT_chr16_68112986_68113200_S:LCAT_chr16_68314901_68316219_S 5 chr16 67977049 67977050 CM133453 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency TGGACAAACCAGATGTGGTGAACTGGATGT[G/A]CTACCGCAAGACAGAGGACTTCTTCACCAT 23522979 chr16 67976830 67977556 11111 3 LCAT_chr16_67150400_67151167_S:LCAT_chr16_67479484_67479800_S:LCAT_chr16_67891800_67892600_S:LCAT_chr16_68112986_68113200_S:LCAT_chr16_68314901_68316219_S 5 chr16 67977061 67977062 CM053949 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency TAGAAGCCAAGCTGGACAAACCAGATGTGG[T/A]GAACTGGATGTGCTACCGCAAGACAGAGGA 15994445 chr16 67976830 67977556 11111 3 LCAT_chr16_67150400_67151167_S:LCAT_chr16_67479484_67479800_S:LCAT_chr16_67891800_67892600_S:LCAT_chr16_68112986_68113200_S:LCAT_chr16_68314901_68316219_S 5 chr16 67977101 67977102 CM950746 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency gggctgctgctcacagTGCCCGGCTGCCTG[G/C]GGAATCAGCTAGAAGCCAAGCTGGACAAAC 7711728 chr16 67976830 67977556 11111 3 LCAT_chr16_67150400_67151167_S:LCAT_chr16_67479484_67479800_S:LCAT_chr16_67891800_67892600_S:LCAT_chr16_68112986_68113200_S:LCAT_chr16_68314901_68316219_S 5 chr16 67977103 67977104 CM973683 - 1 DM NULL LCAT Fish eye disease gagggctgctgctcacagTGCCCGGCTGCC[T/C]GGGGAATCAGCTAGAAGCCAAGCTGGACAA 9180249 chr16 67976830 67977556 11111 3 LCAT_chr16_67150400_67151167_S:LCAT_chr16_67479484_67479800_S:LCAT_chr16_67891800_67892600_S:LCAT_chr16_68112986_68113200_S:LCAT_chr16_68314901_68316219_S 5 chr16 67977110 67977111 CM960925 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency ccagagtgagggctgctgctcacagTGCCC[G/A]GCTGCCTGGGGAATCAGCTAGAAGCCAAGC 8807342 chr16 67977932 67978202 11111 1 LCAT_chr16_67150400_67151167_S:LCAT_chr16_67479484_67479800_S:LCAT_chr16_67891800_67892600_S:LCAT_chr16_68112986_68113200_S:LCAT_chr16_68314901_68316219_S 5 chr16 67977970 67977971 CM053947 - 1 DM? NULL LCAT Lecithin:cholesterol acyltransferase deficiency GGCCGCCCGGCTCCCCATGGCAGTGGGTGA[C/T]GCTGCTGCTGGGGCTGCTGCTCCCTCCTGC 15994445 chr16 67977932 67978202 11111 1 LCAT_chr16_67150400_67151167_S:LCAT_chr16_67479484_67479800_S:LCAT_chr16_67891800_67892600_S:LCAT_chr16_68112986_68113200_S:LCAT_chr16_68314901_68316219_S 5 chr16 67977974 67977975 CD054361 - 5 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency ATGGGGCCGCCCGGCTCCCCATGGCAGTGG[G/-]TGACGCTGCTGCTGGGGCTGCTGCTCCCTC 15994445 chr16 68118177 68118358 11010 1 NFATC3_chr16_67150400_67151167_S:NFATC3_chr16_67891800_67892600_S:NFATC3_chr16_68123400_68124396_S:NFATC3_chr16_68124632_68124800_S:NFATC3_chr16_68125429_68125909_S:NFATC3_chr16_68130569_68131437_S:NFATC3_chr16_68302800_68303800_S:NFATC3_chr16_68820532_68821000_S 8 . -1 -1 . -1 . . . . . . . chr16 68118603 68118919 11101 2 NFATC3_chr16_67150400_67151167_S:NFATC3_chr16_67891800_67892600_S:NFATC3_chr16_68123400_68124396_S:NFATC3_chr16_68124632_68124800_S:NFATC3_chr16_68125429_68125909_S:NFATC3_chr16_68130569_68131437_S:NFATC3_chr16_68302800_68303800_S:NFATC3_chr16_68820532_68821000_S 8 . -1 -1 . -1 . . . . . . . chr16 68119918 68120034 11000 1 NFATC3_chr16_67150400_67151167_S:NFATC3_chr16_67891800_67892600_S:NFATC3_chr16_68123400_68124396_S:NFATC3_chr16_68124632_68124800_S:NFATC3_chr16_68125429_68125909_S:NFATC3_chr16_68130569_68131437_S:NFATC3_chr16_68302800_68303800_S:NFATC3_chr16_68820532_68821000_S 8 . -1 -1 . -1 . . . . . . . chr16 68123689 68123804 10000 1 NFATC3_chr16_68117899_68120061_S 1 . -1 -1 . -1 . . . . . . . chr16 68125655 68125765 11000 1 NFATC3_chr16_68117899_68120061_S 1 . -1 -1 . -1 . . . . . . . chr16 68130902 68131353 10000 3 NFATC3_chr16_68117899_68120061_S 1 . -1 -1 . -1 . . . . . . . chr16 68269988 68270270 11111 1 ESRP2_chr16_67891800_67892600_S:ESRP2_chr16_68271348_68271876_F 2 . -1 -1 . -1 . . . . . . . chr16 68271426 68271678 11111 2 ESRP2_chr16_67891800_67892600_S:ESRP2_chr16_68269635_68271813_F:ESRP2_chr16_68271348_68271876_F 3 . -1 -1 . -1 . . . . . . . chr16 68299200 68299336 11101 1 SLC7A6_chr16_67891800_67892600_S:SLC7A6_chr16_68314901_68316219_S:SLC7A6_chr16_68624648_68624978_S 3 . -1 -1 . -1 . . . . . . . chr16 68820661 68820888 11010 1 NFATC3_chr16_68117899_68120061_S 1 . -1 -1 . -1 . . . . . . . chr16 69432300 69432489 10111 1 EXOSC6_chr16_70284800_70285800_S 1 . -1 -1 . -1 . . . . . . . chr16 69599330 69599474 10010 2 NFAT5_chr16_70451200_70451864_S 1 . -1 -1 . -1 . . . . . . . chr16 69599734 69599858 10010 1 NFAT5_chr16_70451200_70451864_S 1 . -1 -1 . -1 . . . . . . . chr16 69788856 69788966 10100 1 NOB1_chr16_69790577_69791500_F:NOB1_chr16_69892138_69893602_S 2 . -1 -1 . -1 . . . . . . . chr16 69892947 69893255 11000 2 EXOSC6_chr16_70284800_70285800_S:NOB1_chr16_69788219_69789103_S 2 . -1 -1 . -1 . . . . . . . chr16 70453855 70453863 10010 1 EXOSC6_chr16_70284800_70285800_S 1 . -1 -1 . -1 . . . . . . . chr16 70745366 70745613 11000 2 EXOSC6_chr16_70284800_70285800_S 1 . -1 -1 . -1 . . . . . . . chr16 71598561 71599047 11000 2 RNU6-1061P_chr16_71605874_71607744_S 1 . -1 -1 . -1 . . . . . . . chr16 71599427 71599722 11000 2 RNU6-1061P_chr16_71605874_71607744_S 1 . -1 -1 . -1 . . . . . . . chr16 71606443 71606983 11101 3 RNU6-1061P_chr16_71598561_71599800_S 1 chr16 71606548 71606549 CM062007 - 1 DM NULL TAT Tyrosinaemia 2 CAAGTGGCTGCAGCCAAGCTATTGACCTTT[G/A]TTTAGCTGTGTTGGCCAACCCAGGGCAAAA 16574453 chr16 71606443 71606983 11101 3 RNU6-1061P_chr16_71598561_71599800_S 1 chr16 71606553 71606554 CI087197 - 6 DM NULL TAT Tyrosinaemia 2 TCTGACAAGTGGCTGCAGCCAAGCTATTGA[-/A]CCTTTGTTTAGCTGTGTTGGCCAACCCAGG 18945316 chr16 71928945 71929240 11111 2 KIAA0174_chr16_71931018_71931097_F 1 . -1 -1 . -1 . . . . . . . chr16 73089744 73090166 11111 4 ZFHX3_chr16_73089917_73093034_F 1 . -1 -1 . -1 . . . . . . . chr16 73089917 73090166 11111 4 ZFHX3_chr16_73090044_73090191_F 1 . -1 -1 . -1 . . . . . . . chr16 73090566 73090759 11111 1 ZFHX3_chr16_73090044_73090191_F 1 . -1 -1 . -1 . . . . . . . chr16 73092884 73093034 11111 1 ZFHX3_chr16_73090044_73090191_F 1 . -1 -1 . -1 . . . . . . . chr16 75031885 75032237 10101 2 ZNRF1_chr16_75273000_75273400_S:ZNRF1_chr16_75289933_75290600_S 2 . -1 -1 . -1 . . . . . . . chr16 75283985 75284159 10100 1 BCAR1_chr16_75289933_75290600_S 1 . -1 -1 . -1 . . . . . . . chr16 75297918 75298028 10100 3 BCAR1_chr16_75273000_75273400_S 1 . -1 -1 . -1 . . . . . . . chr16 75497247 75497466 10000 2 TMEM170A_chr16_75273000_75273400_S:TMEM170A_chr16_75289933_75290600_S:TMEM170A_chr16_75295048_75295600_S 3 . -1 -1 . -1 . . . . . . . chr16 75498543 75498808 11000 2 TMEM170A_chr16_75273000_75273400_S:TMEM170A_chr16_75289933_75290600_S:TMEM170A_chr16_75295048_75295600_S 3 . -1 -1 . -1 . . . . . . . chr16 79634596 79634800 11111 3 MAF_chr16_79635433_79635866_F 1 . -1 -1 . -1 . . . . . . . chr16 79635351 79635719 10011 3 MAF_chr16_79634121_79635850_F:MAF_chr16_79635433_79635866_F 2 . -1 -1 . -1 . . . . . . . chr16 79636107 79636166 11110 1 MAF_chr16_79634121_79635850_F 1 . -1 -1 . -1 . . . . . . . chr16 80838087 80838227 11000 2 CDYL2_chr16_80838768_80839127_F 1 . -1 -1 . -1 . . . . . . . chr16 81041143 81041298 10010 1 CMC2_chr16_81490400_81492200_S:CMC2_chr16_81566864_81568144_S 2 . -1 -1 . -1 . . . . . . . chr16 81069303 81069393 10000 2 ATMIN_chr16_81490400_81492200_S:ATMIN_chr16_81566864_81568144_S 2 . -1 -1 . -1 . . . . . . . chr16 81478373 81478502 10000 1 CMIP_chr16_81476635_81476969_F 1 . -1 -1 . -1 . . . . . . . chr16 81490477 81490844 11010 1 ATMIN_chr16_81069303_81070368_S:CMC2_chr16_81039905_81041719_S 2 . -1 -1 . -1 . . . . . . . chr16 81491542 81491697 11000 3 ATMIN_chr16_81069303_81070368_S:CMC2_chr16_81039905_81041719_S 2 . -1 -1 . -1 . . . . . . . chr16 81567735 81567976 11010 3 ATMIN_chr16_81069303_81070368_S:C16orf46_chr16_81110196_81111425_S:CMC2_chr16_81039905_81041719_S:PKD1L2_chr16_81174601_81175254_S 4 . -1 -1 . -1 . . . . . . . chr16 82068464 82068895 10111 3 HSD17B2_chr16_82069809_82069958_F:HSD17B2_chr16_82071348_82071461_F 2 . -1 -1 . -1 . . . . . . . chr16 82069592 82069909 10101 2 HSD17B2_chr16_82068357_82070084_F:HSD17B2_chr16_82069809_82069958_F:HSD17B2_chr16_82071348_82071461_F 3 . -1 -1 . -1 . . . . . . . chr16 85028487 85028689 11000 2 GSE1_chr16_85648455_85648949_S 1 . -1 -1 . -1 . . . . . . . chr16 85061136 85061342 11100 1 KIAA0513_chr16_85062384_85062545_F 1 . -1 -1 . -1 . . . . . . . chr16 85339792 85340019 10010 3 GSE1_chr16_85648455_85648949_S 1 . -1 -1 . -1 . . . . . . . chr16 85648681 85648880 11101 2 GSE1_chr16_85027718_85028800_S:GSE1_chr16_85339540_85340400_S 2 . -1 -1 . -1 . . . . . . . chr16 85932639 85932840 10101 1 IRF8_chr16_85933693_85934060_F 1 . -1 -1 . -1 . . . . . . . chr16 87350528 87350675 10000 1 ENSG00000131152_chr16_87812219_87813181_S:ENSG00000131152_chr16_87883328_87885678_S:ENSG00000131152_chr16_87889800_87894800_S 3 . -1 -1 . -1 . . . . . . . chr16 87351016 87351129 10011 1 ENSG00000131152_chr16_87812219_87813181_S:ENSG00000131152_chr16_87883328_87885678_S:ENSG00000131152_chr16_87889800_87894800_S 3 . -1 -1 . -1 . . . . . . . chr16 87351861 87351959 10000 2 ENSG00000131152_chr16_87812219_87813181_S:ENSG00000131152_chr16_87883328_87885678_S:ENSG00000131152_chr16_87889800_87894800_S 3 . -1 -1 . -1 . . . . . . . chr16 87415975 87416226 11010 2 7797_chr16_87883328_87885678_S 1 . -1 -1 . -1 . . . . . . . chr16 87418419 87418554 10100 1 7797_chr16_87883328_87885678_S 1 . -1 -1 . -1 . . . . . . . chr16 87669937 87670076 10000 2 MAP1LC3B_chr16_87428069_87428246_S 1 . -1 -1 . -1 . . . . . . . chr16 87812732 87813059 10000 2 CA5A_chr16_87969509_87970679_S:ENSG00000131152_chr16_87350274_87352022_S:MAP1LC3B_chr16_87428069_87428246_S 3 . -1 -1 . -1 . . . . . . . chr16 87875400 87875524 00000 2 APRT_chr16_88876200_88876774_S:CA5A_chr16_87969509_87970679_S:CYBA_chr16_88716121_88718300_S:MAP1LC3B_chr16_87428069_87428246_S 4 . -1 -1 . -1 . . . . . . . chr16 87875702 87876044 00000 1 APRT_chr16_88876200_88876774_S:CA5A_chr16_87969509_87970679_S:CYBA_chr16_88716121_88718300_S:MAP1LC3B_chr16_87428069_87428246_S 4 . -1 -1 . -1 . . . . . . . chr16 87876360 87876873 00000 1 APRT_chr16_88876200_88876774_S:CA5A_chr16_87969509_87970679_S:CYBA_chr16_88716121_88718300_S:MAP1LC3B_chr16_87428069_87428246_S 4 . -1 -1 . -1 . . . . . . . chr16 87889832 87890135 00000 1 APRT_chr16_88876200_88876774_S:APRT_chr16_88877296_88879102_S:CA5A_chr16_87969509_87970679_S:CYBA_chr16_88716121_88718300_S:ENSG00000131152_chr16_87350274_87352022_S:MVD_chr16_88728775_88730554_S:PIEZO1_chr16_88849988_88852159_S 7 . -1 -1 . -1 . . . . . . . chr16 87970129 87970542 10111 4 CA5A_chr16_87389212_87390000_S:CA5A_chr16_87812219_87813181_S:CA5A_chr16_87875400_87877200_S:CA5A_chr16_87883328_87885678_S:CA5A_chr16_87889800_87894800_S:CA5A_chr16_88522800_88522852_S:CA5A_chr16_88522944_88523200_S:CA5A_chr16_88554049_88555102_S:CA5A_chr16_88555194_88555804_S:CA5A_chr16_88684651_88685000_S:CA5A_chr16_88685200_88685400_S:CA5A_chr16_88827400_88827564_S:CA5A_chr16_88829800_88830600_S 13 . -1 -1 . -1 . . . . . . . chr16 87982589 87982968 10000 2 BANP_chr16_87981759_87982021_F 1 . -1 -1 . -1 . . . . . . . chr16 87989009 87989172 10000 1 BANP_chr16_87984537_87989526_F:BANP_chr16_87988913_87989737_F:BANP_chr16_87989125_87993977_F 3 . -1 -1 . -1 . . . . . . . chr16 87989125 87989172 10000 1 BANP_chr16_87988913_87989737_F 1 . -1 -1 . -1 . . . . . . . chr16 88554365 88555102 10110 3 APRT_chr16_88876200_88876774_S:APRT_chr16_88876992_88877084_S:APRT_chr16_88877296_88879102_S:CA5A_chr16_87968603_87969119_S:CA5A_chr16_87969233_87969416_S:CA5A_chr16_87969509_87970679_S:CDH15_chr16_89233840_89234131_S:CYBA_chr16_88716121_88718300_S:GALNS_chr16_88923111_88924403_S:MVD_chr16_88728775_88730554_S:PIEZO1_chr16_88849988_88852159_S:RNU6-430P_chr16_89508860_89510475_S:ZC3H18_chr16_88636039_88637474_S:ZFPM1_chr16_88520844_88522362_S:ZNF778_chr16_89282984_89283196_S 15 . -1 -1 . -1 . . . . . . . chr16 88555194 88555237 10110 3 ANKRD11_chr16_89555531_89556166_S:APRT_chr16_88877296_88879102_S:CA5A_chr16_87969509_87970679_S:GALNS_chr16_88923111_88924403_S 4 . -1 -1 . -1 . . . . . . . chr16 88555676 88555804 10110 1 ANKRD11_chr16_89555531_89556166_S:APRT_chr16_88877296_88879102_S:CA5A_chr16_87969509_87970679_S:GALNS_chr16_88923111_88924403_S 4 . -1 -1 . -1 . . . . . . . chr16 88636545 88636901 10101 1 ZC3H18_chr16_88554049_88555102_S 1 . -1 -1 . -1 . . . . . . . chr16 88684949 88685000 11111 2 APRT_chr16_88877296_88879102_S:CA5A_chr16_87969509_87970679_S:CYBA_chr16_88716121_88718300_S 3 . -1 -1 . -1 . . . . . . . chr16 88685200 88685265 11111 2 ANKRD11_chr16_89555531_89556166_S:APRT_chr16_88876200_88876774_S:APRT_chr16_88877296_88879102_S:CA5A_chr16_87969509_87970679_S:CYBA_chr16_88716121_88718300_S:GALNS_chr16_88923111_88924403_S 6 . -1 -1 . -1 . . . . . . . chr16 88729536 88729682 10111 1 MVD_chr16_87889800_87894800_S:MVD_chr16_88554049_88555102_S 2 . -1 -1 . -1 . . . . . . . chr16 88772799 88772956 10101 2 RNF166_chr16_88771579_88772211_F:RNF166_chr16_88771579_88772211_F 2 . -1 -1 . -1 . . . . . . . chr16 88829996 88830284 11000 3 CA5A_chr16_87969509_87970679_S 1 . -1 -1 . -1 . . . . . . . chr16 88878321 88878544 10000 2 APRT_chr16_87883328_87885678_S:APRT_chr16_87889800_87894800_S:APRT_chr16_88554049_88555102_S:APRT_chr16_88555194_88555804_S:APRT_chr16_88684651_88685000_S:APRT_chr16_88685200_88685400_S:APRT_chr16_89386400_89387200_S 7 . -1 -1 . -1 . . . . . . . chr16 88879042 88879102 10000 1 APRT_chr16_87883328_87885678_S:APRT_chr16_87889800_87894800_S:APRT_chr16_88554049_88555102_S:APRT_chr16_88555194_88555804_S:APRT_chr16_88684651_88685000_S:APRT_chr16_88685200_88685400_S:APRT_chr16_89386400_89387200_S 7 . -1 -1 . -1 . . . . . . . chr16 89386846 89386955 10000 1 ANKRD11_chr16_89555531_89556166_S:APRT_chr16_88876200_88876774_S:APRT_chr16_88877296_88879102_S:CYBA_chr16_88716121_88718300_S:GALNS_chr16_88923111_88924403_S:PIEZO1_chr16_88849988_88852159_S:TCF25_chr16_89939335_89941093_S 7 . -1 -1 . -1 . . . . . . . chr16 89396609 89396710 11000 1 ANKRD11_chr16_89555531_89556166_S 1 . -1 -1 . -1 . . . . . . . chr16 89555525 89555769 10000 3 ANKRD11_chr16_89555559_89557469_F 1 . -1 -1 . -1 . . . . . . . chr16 89555531 89555769 10000 3 ANKRD11_chr16_88555194_88555804_S:ANKRD11_chr16_88685200_88685400_S:ANKRD11_chr16_89386400_89387200_S:ANKRD11_chr16_89396600_89397000_S:ANKRD11_chr16_89540408_89540724_S 5 . -1 -1 . -1 . . . . . . . chr16 89555559 89555769 10000 3 ANKRD11_chr16_89555521_89555997_F 1 . -1 -1 . -1 . . . . . . . chr16 89557092 89557225 00000 2 ANKRD11_chr16_89555521_89555997_F 1 . -1 -1 . -1 . . . . . . . chr16 89612400 89612401 10000 1 CYBA_chr16_88716121_88718300_S 1 . -1 -1 . -1 . . . . . . . chr16 89685084 89685210 10000 1 DPEP1_chr16_89683162_89683271_F 1 . -1 -1 . -1 . . . . . . . chr16 89894157 89894274 10000 1 SPIRE2_chr16_89893793_89895407_F:SPIRE2_chr16_89893816_89894170_F 2 . -1 -1 . -1 . . . . . . . chr17 32316 32448 11000 2 DOC2B_chr17_30919_32515_F:DOC2B_chr17_32253_32376_F 2 . -1 -1 . -1 . . . . . . . chr17 198428 198711 10000 3 RPH3AL_chr17_198454_203133_F 1 . -1 -1 . -1 . . . . . . . chr17 198454 198711 10000 3 RPH3AL_chr17_198472_198837_F 1 . -1 -1 . -1 . . . . . . . chr17 199039 199137 11000 4 RPH3AL_chr17_198454_203133_F 1 . -1 -1 . -1 . . . . . . . chr17 199039 199773 11000 4 RPH3AL_chr17_198472_198837_F 1 . -1 -1 . -1 . . . . . . . chr17 200487 200817 11000 1 RPH3AL_chr17_198472_198837_F:RPH3AL_chr17_200501_203133_F 2 . -1 -1 . -1 . . . . . . . chr17 200501 200817 11000 1 RPH3AL_chr17_200517_200885_F 1 . -1 -1 . -1 . . . . . . . chr17 202278 202743 11010 3 RPH3AL_chr17_198472_198837_F:RPH3AL_chr17_200517_200885_F 2 . -1 -1 . -1 . . . . . . . chr17 1619763 1620000 10010 2 WDR81_chr17_1620806_1621089_F 1 . -1 -1 . -1 . . . . . . . chr17 1620297 1621035 10010 2 WDR81_chr17_1620806_1621089_F 1 . -1 -1 . -1 . . . . . . . chr17 1620506 1621035 10010 2 WDR81_chr17_1619316_1621148_F 1 . -1 -1 . -1 . . . . . . . chr17 1628278 1628334 10110 1 WDR81_chr17_1626372_1626653_F 1 . -1 -1 . -1 . . . . . . . chr17 1628278 1628460 10110 1 WDR81_chr17_1626372_1626653_F 1 . -1 -1 . -1 . . . . . . . chr17 1665122 1665355 10110 2 SERPINF1_chr17_1666519_1666783_F 1 chr17 1665330 1665331 CR054284 + 3 FP rs9913583 SERPINF1 Altered promoter activity GGACGCTGGATTAGAAGGCAGCAAAAAAAG[A/C]TCTGTGCTGGCTGGAGCCCCCTCAGTGTGC 16086313 chr17 1666123 1666242 10000 1 SERPINF1_chr17_1666519_1666783_F 1 . -1 -1 . -1 . . . . . . . chr17 1666219 1666242 10000 1 SERPINF1_chr17_1664758_1666852_F 1 . -1 -1 . -1 . . . . . . . chr17 1666596 1666852 10110 2 SERPINF1_chr17_1666519_1666783_F 1 . -1 -1 . -1 . . . . . . . chr17 1666596 1666881 10110 2 SERPINF1_chr17_1664758_1666852_F 1 . -1 -1 . -1 . . . . . . . chr17 1927033 1927156 10111 1 RTN4RL1_chr17_1926840_1928678_F:RTN4RL1_chr17_1926930_1927151_F 2 . -1 -1 . -1 . . . . . . . chr17 2302779 2302810 11111 2 MNT_chr17_2302109_2304758_F 1 . -1 -1 . -1 . . . . . . . chr17 2302779 2303265 11111 2 MNT_chr17_2300026_2300553_F:MNT_chr17_2302108_2302510_F:MNT_chr17_2302872_2304758_F 3 . -1 -1 . -1 . . . . . . . chr17 2302872 2303265 11111 2 MNT_chr17_2302778_2303366_F 1 . -1 -1 . -1 . . . . . . . chr17 2304108 2304275 11111 1 MNT_chr17_2300026_2300553_F:MNT_chr17_2302108_2302510_F:MNT_chr17_2302778_2303366_F:MNT_chr17_2305266_2305571_F 4 . -1 -1 . -1 . . . . . . . chr17 2304694 2304758 11111 3 MNT_chr17_2300026_2300553_F:MNT_chr17_2302108_2302510_F:MNT_chr17_2302778_2303366_F 3 . -1 -1 . -1 . . . . . . . chr17 2304694 2305405 11111 3 MNT_chr17_2305266_2305571_F 1 . -1 -1 . -1 . . . . . . . chr17 2304966 2305405 11111 3 MNT_chr17_2303757_2305619_F 1 . -1 -1 . -1 . . . . . . . chr17 2614023 2614253 10000 3 KIAA0664_chr17_2613966_2615427_F:KIAA0664_chr17_2614073_2614260_F 2 . -1 -1 . -1 . . . . . . . chr17 2614972 2615243 10000 2 KIAA0664_chr17_2614073_2614260_F 1 . -1 -1 . -1 . . . . . . . chr17 4403445 4403588 10000 1 SPNS2_chr17_4404427_4404640_F 1 . -1 -1 . -1 . . . . . . . chr17 4613340 4613958 11000 3 ARRB2_chr17_4614568_4615368_F:ARRB2_chr17_4615866_4616105_F 2 . -1 -1 . -1 . . . . . . . chr17 4615173 4615458 11000 2 ARRB2_chr17_4613288_4615169_F:ARRB2_chr17_4615866_4616105_F 2 . -1 -1 . -1 . . . . . . . chr17 4615851 4616186 10000 4 ARRB2_chr17_4615866_4616105_F 1 . -1 -1 . -1 . . . . . . . chr17 4615851 4616266 10000 4 ARRB2_chr17_4613288_4616186_F 1 . -1 -1 . -1 . . . . . . . chr17 4736484 4736600 10101 1 MINK1_chr17_4737531_4737755_F 1 . -1 -1 . -1 . . . . . . . chr17 4736842 4737012 10100 1 MINK1_chr17_4737531_4737755_F 1 . -1 -1 . -1 . . . . . . . chr17 4737622 4737741 10101 1 MINK1_chr17_4736134_4737844_F:MINK1_chr17_4737531_4737755_F 2 . -1 -1 . -1 . . . . . . . chr17 6614377 6614801 11010 3 SLC13A5_chr17_6614302_6617240_F:SLC13A5_chr17_6614362_6614643_F 2 . -1 -1 . -1 . . . . . . . chr17 6615103 6615356 10001 2 SLC13A5_chr17_6614362_6614643_F 1 . -1 -1 . -1 . . . . . . . chr17 6616567 6617014 11111 1 SLC13A5_chr17_6614362_6614643_F 1 . -1 -1 . -1 . . . . . . . chr17 6655508 6656162 10000 3 XAF1_chr17_6655805_6659656_F 1 . -1 -1 . -1 . . . . . . . chr17 6655805 6656162 10000 3 XAF1_chr17_6655808_6656203_F 1 . -1 -1 . -1 . . . . . . . chr17 6656119 6656162 10000 3 XAF1_chr17_6656383_6659656_F 1 . -1 -1 . -1 . . . . . . . chr17 6656599 6656713 11000 1 XAF1_chr17_6655808_6656203_F:XAF1_chr17_6656383_6659656_F:XAF1_chr17_6656419_6656747_F 3 . -1 -1 . -1 . . . . . . . chr17 6925897 6925953 10000 1 BCL6B_chr17_6925202_6926869_F 1 . -1 -1 . -1 . . . . . . . chr17 6925897 6926129 10000 1 BCL6B_chr17_6924662_6924902_F:BCL6B_chr17_6925152_6925653_F 2 . -1 -1 . -1 . . . . . . . chr17 7017930 7018129 10111 4 ASGR2_chr17_7015601_7015870_F 1 . -1 -1 . -1 . . . . . . . chr17 7017930 7018630 10111 4 ASGR2_chr17_7015601_7015870_F 1 . -1 -1 . -1 . . . . . . . chr17 7117400 7117918 11111 1 ACADVL_chr17_7766148_7767017_S 1 . -1 -1 . -1 . . . . . . . chr17 7123640 7124061 11110 1 ACADVL_chr17_7482212_7482600_S:ACADVL_chr17_8024291_8024994_S 2 chr17 7123838 7123839 CS004151 + 2 DM? rs28934585 ACADVL Very long chain acyl-CoA dehydrogenase deficiency ACCCCTCTGACGCTCTGACCAGGAAAAAAC[C/T]GGCCAAGGCGgtaggtagccccgaggccag 10790204 chr17 7123640 7124061 11110 1 ACADVL_chr17_7482212_7482600_S:ACADVL_chr17_8024291_8024994_S 2 chr17 7123945 7123946 CM065964 + 1 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency ctgcccagGAATCTAAGTCCTTTGCTGTGG[G/A]AATGTTCAAAGGCCAGCTCACCACAGATCA 16860141 chr17 7123640 7124061 11110 1 ACADVL_chr17_7482212_7482600_S:ACADVL_chr17_8024291_8024994_S 2 chr17 7123969 7123970 CD991551 + 5 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency CTGTGGGAATGTTCAAAGGCCAGCTCACCA[CA/-]GATCAGGTGTTCCCATACCCGTCCGGTAAG 9973285 chr17 7123640 7124061 11110 1 ACADVL_chr17_7482212_7482600_S:ACADVL_chr17_8024291_8024994_S 2 chr17 7123983 7123984 CM022305 + 1 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency AAAGGCCAGCTCACCACAGATCAGGTGTTC[C/T]CATACCCGTCCGgtaagggaagggataatc 11914034 chr17 7123640 7124061 11110 1 ACADVL_chr17_7482212_7482600_S:ACADVL_chr17_8024291_8024994_S 2 chr17 7123990 7123991 CM140577 + 1 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency AGCTCACCACAGATCAGGTGTTCCCATACC[C/T]GTCCGgtaagggaagggataatcagagctg 23966064 chr17 7123640 7124061 11110 1 ACADVL_chr17_7482212_7482600_S:ACADVL_chr17_8024291_8024994_S 2 chr17 7123997 7123998 CS127072 + 2 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency CACAGATCAGGTGTTCCCATACCCGTCCGg[T/G]aagggaagggataatcagagctgggtgggg 22847164 chr17 7137830 7137977 10101 1 DVL2_chr17_7482212_7482600_S 1 . -1 -1 . -1 . . . . . . . chr17 7184021 7184262 11110 1 SLC2A4_chr17_7766148_7767017_S 1 . -1 -1 . -1 . . . . . . . chr17 7210521 7210712 11111 1 EIF5A_chr17_8024291_8024994_S 1 . -1 -1 . -1 . . . . . . . chr17 7387590 7387705 11101 2 POLR2A_chr17_7389589_7389989_F:ZBTB4_chr17_7389589_7389989_F 2 . -1 -1 . -1 . . . . . . . chr17 7388050 7388325 11101 2 POLR2A_chr17_7389589_7389989_F:ZBTB4_chr17_7389589_7389989_F 2 . -1 -1 . -1 . . . . . . . chr17 7475781 7475894 10010 1 EIF4A1_chr17_7482212_7482600_S 1 . -1 -1 . -1 . . . . . . . chr17 7476819 7477260 10011 1 EIF4A1_chr17_7482212_7482600_S 1 . -1 -1 . -1 . . . . . . . chr17 7482644 7483046 10000 3 CD68_chr17_7482212_7482600_S 1 . -1 -1 . -1 . . . . . . . chr17 7738829 7739059 11110 1 KDM6B_chr17_7739518_7743735_F 1 . -1 -1 . -1 . . . . . . . chr17 7739561 7739754 11111 1 KDM6B_chr17_7738822_7740614_F:KDM6B_chr17_7739518_7743735_F 2 . -1 -1 . -1 . . . . . . . chr17 7740052 7740609 11111 3 KDM6B_chr17_7738822_7740614_F:KDM6B_chr17_7739518_7743735_F 2 . -1 -1 . -1 . . . . . . . chr17 7745397 7745866 11110 2 KDM6B_chr17_7746991_7747556_F 1 . -1 -1 . -1 . . . . . . . chr17 7746393 7746532 10110 1 KDM6B_chr17_7746991_7747556_F 1 . -1 -1 . -1 . . . . . . . chr17 7746920 7747365 10110 1 KDM6B_chr17_7742734_7747474_F:KDM6B_chr17_7746991_7747556_F 2 . -1 -1 . -1 . . . . . . . chr17 7789704 7789896 10111 1 CHD3_chr17_7790181_7790340_F 1 . -1 -1 . -1 . . . . . . . chr17 7789881 7789896 10111 1 CHD3_chr17_7787622_7790461_F:CHD3_chr17_7790060_7792669_F 2 . -1 -1 . -1 . . . . . . . chr17 7791011 7791449 10111 1 CHD3_chr17_7790181_7790340_F 1 . -1 -1 . -1 . . . . . . . chr17 7792551 7792669 11111 1 CHD3_chr17_7790181_7790340_F 1 . -1 -1 . -1 . . . . . . . chr17 8024291 8024330 10111 1 ACADVL_chr17_7122924_7124110_S:EIF5A_chr17_7210113_7212310_S:GPS2_chr17_7218029_7219014_S:RPL26_chr17_8285996_8287365_S 4 . -1 -1 . -1 . . . . . . . chr17 8041978 8042166 10011 1 7884_chr17_7766148_7767017_S 1 . -1 -1 . -1 . . . . . . . chr17 8055620 8055915 11111 2 PER1_chr17_8057335_8058055_F 1 . -1 -1 . -1 . . . . . . . chr17 8056637 8057263 11110 3 PER1_chr17_8057335_8058055_F 1 . -1 -1 . -1 . . . . . . . chr17 8057035 8057263 11110 3 PER1_chr17_8055252_8057896_F 1 . -1 -1 . -1 . . . . . . . chr17 8057649 8057874 11101 1 PER1_chr17_8055252_8057896_F:PER1_chr17_8057335_8058055_F 2 . -1 -1 . -1 . . . . . . . chr17 8286524 8286838 11101 2 RPL26_chr17_7766148_7767017_S:RPL26_chr17_8024291_8024994_S 2 . -1 -1 . -1 . . . . . . . chr17 8648112 8648421 10000 1 CCDC42_chr17_8649167_8649702_F 1 . -1 -1 . -1 . . . . . . . chr17 8649133 8649256 10000 1 CCDC42_chr17_8647653_8649635_F:CCDC42_chr17_8649167_8649702_F 2 . -1 -1 . -1 . . . . . . . chr17 14204014 14204396 10100 3 HS3ST3B1_chr17_14206072_14206436_F:HS3ST3B1_chr17_14206970_14207459_F 2 . -1 -1 . -1 . . . . . . . chr17 14206218 14206455 10100 2 HS3ST3B1_chr17_14206072_14206436_F 1 . -1 -1 . -1 . . . . . . . chr17 14206218 14206457 10100 2 HS3ST3B1_chr17_14204005_14206455_F:HS3ST3B1_chr17_14206970_14207459_F 2 . -1 -1 . -1 . . . . . . . chr17 14206949 14207086 10100 1 HS3ST3B1_chr17_14204005_14207415_F:HS3ST3B1_chr17_14206970_14207459_F 2 . -1 -1 . -1 . . . . . . . chr17 16118820 16118930 00000 1 PIGL_chr17_16347200_16348200_S 1 . -1 -1 . -1 . . . . . . . chr17 16284244 16284753 11010 2 UBB_chr17_16347200_16348200_S 1 . -1 -1 . -1 . . . . . . . chr17 16341804 16342349 11111 2 FAM211A-AS1_chr17_16347200_16348200_S 1 . -1 -1 . -1 . . . . . . . chr17 16945573 16945671 10000 2 MPRIP_chr17_16948336_16948515_F 1 . -1 -1 . -1 . . . . . . . chr17 17493835 17494034 10000 1 PEMT_chr17_17493539_17495494_F:PEMT_chr17_17493657_17493822_F 2 . -1 -1 . -1 . . . . . . . chr17 17494764 17495219 11010 2 PEMT_chr17_17493657_17493822_F:PEMT_chr17_17733800_17734600_S 2 . -1 -1 . -1 . . . . . . . chr17 17727257 17727389 10100 1 SREBF1_chr17_17733800_17734600_S 1 . -1 -1 . -1 . . . . . . . chr17 17734126 17734446 11011 3 COPS3_chr17_17183823_17184835_S:DRG2_chr17_17990916_17991733_S:MIEF2_chr17_18163528_18164799_S:PEMT_chr17_17494293_17495577_S:RAI1_chr17_17585122_17586472_S:SMCR8_chr17_18217880_18219064_S:SREBF1_chr17_17725925_17726059_S:SREBF1_chr17_17726821_17727389_S:SREBF1_chr17_17727612_17728600_S:SREBF1_chr17_17738117_17738209_S:SREBF1_chr17_17738370_17738543_S:SREBF1_chr17_17739473_17740615_S 12 . -1 -1 . -1 . . . . . . . chr17 17738370 17738418 10100 3 SREBF1_chr17_17733800_17734600_S 1 . -1 -1 . -1 . . . . . . . chr17 17739513 17739745 11110 2 SREBF1_chr17_17733800_17734600_S 1 . -1 -1 . -1 . . . . . . . chr17 17990930 17991226 11010 2 DRG2_chr17_17733800_17734600_S 1 . -1 -1 . -1 . . . . . . . chr17 18164451 18164799 11110 2 MIEF2_chr17_17733800_17734600_S 1 . -1 -1 . -1 . . . . . . . chr17 18218231 18218577 11110 2 SMCR8_chr17_17733800_17734600_S 1 . -1 -1 . -1 . . . . . . . chr17 21187704 21187858 10000 1 MAP2K3_chr17_21187096_21187372_F:MAP2K3_chr17_21187096_21187372_F:MAP2K3_chr17_21188812_21189500_F:MAP2K3_chr17_21189600_21190105_F 4 . -1 -1 . -1 . . . . . . . chr17 21188466 21188468 10000 1 MAP2K3_chr17_21187096_21187372_F 1 . -1 -1 . -1 . . . . . . . chr17 21188466 21188616 10000 1 MAP2K3_chr17_21187096_21187372_F:MAP2K3_chr17_21188812_21189500_F:MAP2K3_chr17_21189600_21190105_F 3 . -1 -1 . -1 . . . . . . . chr17 21188512 21188616 10000 1 MAP2K3_chr17_21187467_21189357_F:MAP2K3_chr17_21188956_21191848_F 2 . -1 -1 . -1 . . . . . . . chr17 21189617 21189800 10000 3 MAP2K3_chr17_21187467_21189357_F:MAP2K3_chr17_21188956_21191848_F 2 . -1 -1 . -1 . . . . . . . chr17 21189617 21190036 10000 3 MAP2K3_chr17_21187096_21187372_F:MAP2K3_chr17_21187467_21190053_F:MAP2K3_chr17_21188812_21189500_F:MAP2K3_chr17_21189600_21190105_F:MAP2K3_chr17_21189652_21191848_F 5 . -1 -1 . -1 . . . . . . . chr17 21189652 21190036 10000 3 MAP2K3_chr17_21189600_21190105_F 1 . -1 -1 . -1 . . . . . . . chr17 21191044 21191467 10000 2 MAP2K3_chr17_21187096_21187372_F:MAP2K3_chr17_21188812_21189500_F:MAP2K3_chr17_21189600_21190105_F 3 . -1 -1 . -1 . . . . . . . chr17 26695080 26695562 11111 3 ENSG00000004139_chr17_27025000_27026200_S 1 . -1 -1 . -1 . . . . . . . chr17 26697296 26697838 11111 4 ENSG00000004139_chr17_27025000_27026200_S 1 . -1 -1 . -1 . . . . . . . chr17 26904000 26904185 10111 1 TRAF4_chr17_27070115_27072824_S 1 . -1 -1 . -1 . . . . . . . chr17 27025441 27025769 11100 1 ENSG00000004139_chr17_26694800_26695711_S:ENSG00000004139_chr17_26696850_26698020_S:NEK8_chr17_27051931_27054640_S:RAB34_chr17_27046333_27047400_S:TAOK1_chr17_27716921_27718514_S:TRAF4_chr17_27070115_27072824_S 6 . -1 -1 . -1 . . . . . . . chr17 27046421 27047057 10101 1 RAB34_chr17_27025000_27026200_S 1 . -1 -1 . -1 . . . . . . . chr17 27053006 27053157 10100 1 NEK8_chr17_26973766_26973941_S:NEK8_chr17_27025000_27026200_S 2 . -1 -1 . -1 . . . . . . . chr17 27054300 27054502 10101 1 NEK8_chr17_26973766_26973941_S:NEK8_chr17_27025000_27026200_S 2 . -1 -1 . -1 . . . . . . . chr17 27071354 27071758 10101 1 TRAF4_chr17_26904000_26904398_S:TRAF4_chr17_27025000_27026200_S:TRAF4_chr17_27072804_27073286_F 3 . -1 -1 . -1 . . . . . . . chr17 27073139 27073246 10000 1 TRAF4_chr17_27072804_27073286_F 1 . -1 -1 . -1 . . . . . . . chr17 27073139 27073411 10000 1 TRAF4_chr17_27070522_27073246_F 1 . -1 -1 . -1 . . . . . . . chr17 27506311 27506686 00000 2 MYO18A_chr17_27506361_27507907_F 1 . -1 -1 . -1 . . . . . . . chr17 27506361 27506686 00000 2 MYO18A_chr17_27506307_27506816_F 1 . -1 -1 . -1 . . . . . . . chr17 27717181 27717368 11110 1 TAOK1_chr17_27025000_27026200_S 1 . -1 -1 . -1 . . . . . . . chr17 27892838 27893069 11100 2 ABHD15_chr17_27890961_27891203_F 1 . -1 -1 . -1 . . . . . . . chr17 34413065 34413332 00000 3 CCL3_chr17_34413016_34418006_F:CCL3_chr17_34413023_34413409_F 2 . -1 -1 . -1 . . . . . . . chr17 34414930 34415184 00000 3 CCL3_chr17_34413023_34413409_F 1 . -1 -1 . -1 . . . . . . . chr17 34420185 34420234 00000 3 CCL3_chr17_34417005_34419901_F 1 . -1 -1 . -1 . . . . . . . chr17 34948103 34948213 10100 1 DHRS11_chr17_34948982_34949076_F 1 . -1 -1 . -1 . . . . . . . chr17 36068268 36068400 11110 3 7859_chr17_37025117_37028160_S 1 . -1 -1 . -1 . . . . . . . chr17 36077023 36077433 11111 3 7859_chr17_37025117_37028160_S 1 . -1 -1 . -1 . . . . . . . chr17 36102882 36103062 11111 1 HNF1B_chr17_36101828_36102076_F:HNF1B_chr17_36102737_36105596_F:HNF1B_chr17_36102823_36103051_F 3 . -1 -1 . -1 . . . . . . . chr17 36103523 36103778 11110 1 HNF1B_chr17_36101828_36102076_F:HNF1B_chr17_36102823_36103051_F:HNF1B_chr17_36103526_36105596_F 3 . -1 -1 . -1 . . . . . . . chr17 36103526 36103778 11110 1 HNF1B_chr17_36103612_36103841_F 1 . -1 -1 . -1 . . . . . . . chr17 36105155 36105425 10111 1 HNF1B_chr17_36101828_36102076_F:HNF1B_chr17_36102823_36103051_F:HNF1B_chr17_36103612_36103841_F 3 . -1 -1 . -1 . . . . . . . chr17 36828618 36828790 10100 1 7859_chr17_37025117_37028160_S 1 . -1 -1 . -1 . . . . . . . chr17 36859977 36860182 10010 1 MLLT6_chr17_37070562_37071800_S 1 . -1 -1 . -1 . . . . . . . chr17 36886410 36886551 11100 1 RNA5SP440_chr17_37070562_37071800_S 1 . -1 -1 . -1 . . . . . . . chr17 36887091 36887314 10110 1 RNA5SP440_chr17_37070562_37071800_S 1 . -1 -1 . -1 . . . . . . . chr17 37025605 37025739 11011 1 7859_chr17_36068054_36068400_S:7859_chr17_36077023_36077688_S:7859_chr17_36665840_36666719_S:7859_chr17_36819589_36819600_S:7859_chr17_36827982_36828800_S:7859_chr17_37023200_37023600_S:7859_chr17_37070562_37071800_S:7859_chr17_37308468_37309230_S:7859_chr17_37808442_37809000_S:7859_chr17_37824920_37825200_S:7859_chr17_37906292_37906400_S 11 . -1 -1 . -1 . . . . . . . chr17 37027799 37028024 11111 1 7859_chr17_36068054_36068400_S:7859_chr17_36077023_36077688_S:7859_chr17_36665840_36666719_S:7859_chr17_36819589_36819600_S:7859_chr17_36827982_36828800_S:7859_chr17_37023200_37023600_S:7859_chr17_37070562_37071800_S:7859_chr17_37308468_37309230_S:7859_chr17_37808442_37809000_S:7859_chr17_37824920_37825200_S:7859_chr17_37906292_37906400_S 11 . -1 -1 . -1 . . . . . . . chr17 37029090 37029285 11101 2 7859_chr17_37070562_37071800_S 1 . -1 -1 . -1 . . . . . . . chr17 37071105 37071633 10010 1 7859_chr17_37025117_37028160_S:7859_chr17_37028581_37029619_S:C17orf96_chr17_36830102_36831602_S:CDK12_chr17_37617385_37618865_S:MIEN1_chr17_37886271_37887109_S:MLLT6_chr17_36856343_36862757_S:MLLT6_chr17_36862932_36863248_S:RNA5SP440_chr17_36886045_36887677_S:RNA5SP440_chr17_36888306_36888549_S 9 . -1 -1 . -1 . . . . . . . chr17 37617401 37617712 10000 3 CDK12_chr17_37070562_37071800_S 1 . -1 -1 . -1 . . . . . . . chr17 37618713 37618825 10000 1 CDK12_chr17_37070562_37071800_S 1 . -1 -1 . -1 . . . . . . . chr17 37893688 37893981 11101 1 GRB7_chr17_37896808_37897181_F 1 . -1 -1 . -1 . . . . . . . chr17 37895414 37896073 11111 2 GRB7_chr17_37896808_37897181_F:GRB7_chr17_37896808_37897181_F:GRB7_chr17_37896808_37897181_F 3 . -1 -1 . -1 . . . . . . . chr17 37895719 37896073 11111 2 GRB7_chr17_37896808_37897181_F 1 . -1 -1 . -1 . . . . . . . chr17 38078285 38078400 11000 3 GSDMB_chr17_38076600_38076749_S:GSDMB_chr17_38076877_38077800_S:GSDMB_chr17_38078400_38078864_S 3 . -1 -1 . -1 . . . . . . . chr17 38078400 38078617 11000 3 GSDMB_chr17_38077800_38078400_S:MIEN1_chr17_37886271_37887109_S:NR1D1_chr17_38255086_38256019_S:ORMDL3_chr17_38082746_38084680_S 4 . -1 -1 . -1 . . . . . . . chr17 38082746 38083322 11000 3 ORMDL3_chr17_38076600_38076749_S:ORMDL3_chr17_38076877_38077800_S:ORMDL3_chr17_38078400_38078864_S 3 . -1 -1 . -1 . . . . . . . chr17 38083731 38084100 11000 2 ORMDL3_chr17_38076600_38076749_S:ORMDL3_chr17_38076877_38077800_S:ORMDL3_chr17_38078400_38078864_S:ORMDL3_chr17_38085522_38085789_F 4 . -1 -1 . -1 . . . . . . . chr17 38085387 38085579 10000 1 ORMDL3_chr17_38083383_38085856_F:ORMDL3_chr17_38085522_38085789_F 2 . -1 -1 . -1 . . . . . . . chr17 38136927 38137128 11111 2 PSMD3_chr17_38170256_38172080_S:PSMD3_chr17_38446604_38447066_S:PSMD3_chr17_38515025_38515400_S:PSMD3_chr17_39057915_39060098_S:PSMD3_chr17_39112556_39114694_S 5 . -1 -1 . -1 . . . . . . . chr17 38137709 38137902 11000 1 PSMD3_chr17_38170256_38172080_S:PSMD3_chr17_38446604_38447066_S:PSMD3_chr17_38515025_38515400_S:PSMD3_chr17_39057915_39060098_S:PSMD3_chr17_39112556_39114694_S 5 . -1 -1 . -1 . . . . . . . chr17 38254221 38254798 11111 2 NR1D1_chr17_38254256_38257473_F 1 . -1 -1 . -1 . . . . . . . chr17 38254256 38254798 11111 2 NR1D1_chr17_38254249_38254664_F 1 . -1 -1 . -1 . . . . . . . chr17 38255220 38255717 11111 2 NR1D1_chr17_38076600_38076749_S:NR1D1_chr17_38076877_38077800_S:NR1D1_chr17_38078400_38078864_S:NR1D1_chr17_38254249_38254664_F 4 . -1 -1 . -1 . . . . . . . chr17 38256780 38257473 11111 3 NR1D1_chr17_38254249_38254664_F 1 . -1 -1 . -1 . . . . . . . chr17 38256780 38257676 11111 3 NR1D1_chr17_39112556_39114694_S 1 . -1 -1 . -1 . . . . . . . chr17 38278123 38278265 10101 1 MSL1_chr17_38076600_38076749_S:MSL1_chr17_38076877_38077800_S 2 . -1 -1 . -1 . . . . . . . chr17 38279946 38280084 10100 1 MSL1_chr17_38076600_38076749_S:MSL1_chr17_38076877_38077800_S 2 . -1 -1 . -1 . . . . . . . chr17 38472942 38473101 11111 2 RARA_chr17_38470934_38471197_F 1 . -1 -1 . -1 . . . . . . . chr17 38474413 38474542 11100 1 RARA_chr17_38470934_38471197_F:RARA_chr17_38475638_38476939_F:RARA_chr17_38477236_38480096_F 3 . -1 -1 . -1 . . . . . . . chr17 38478695 38478826 11011 1 RARA_chr17_38473972_38478867_F:RARA_chr17_38477236_38480096_F 2 . -1 -1 . -1 . . . . . . . chr17 38497599 38497732 11101 1 RARA_chr17_38494493_38494615_F:RARA_chr17_38496652_38496786_F 2 . -1 -1 . -1 . . . . . . . chr17 38498569 38498702 11101 1 RARA_chr17_38494493_38494615_F:RARA_chr17_38496652_38496786_F 2 . -1 -1 . -1 . . . . . . . chr17 38515347 38515400 10000 1 MIEN1_chr17_37886271_37887109_S:PSMD3_chr17_38136484_38137902_S 2 . -1 -1 . -1 . . . . . . . chr17 38600041 38600227 11110 1 IGFBP4_chr17_38601076_38601487_F:IGFBP4_chr17_38602883_38603101_F:IGFBP4_chr17_38603509_38603888_F 3 . -1 -1 . -1 . . . . . . . chr17 38602467 38602577 10000 1 IGFBP4_chr17_38602883_38603101_F:IGFBP4_chr17_38603509_38603888_F 2 . -1 -1 . -1 . . . . . . . chr17 38603504 38603689 11111 3 IGFBP4_chr17_38599175_38603899_F:IGFBP4_chr17_38603509_38603888_F 2 . -1 -1 . -1 . . . . . . . chr17 39058227 39058499 11000 3 PSMD3_chr17_38136484_38137902_S 1 . -1 -1 . -1 . . . . . . . chr17 39113078 39113344 11000 1 EIF1_chr17_39844595_39845600_S:ENSG00000204815_chr17_40086416_40087110_S:NR1D1_chr17_38256248_38257773_S:PSMD3_chr17_38136484_38137902_S 4 . -1 -1 . -1 . . . . . . . chr17 39844848 39845130 11010 3 EIF1_chr17_39112556_39114694_S:EIF1_chr17_40671016_40672976_S 2 . -1 -1 . -1 . . . . . . . chr17 39845458 39845600 11010 1 EIF1_chr17_39112556_39114694_S:EIF1_chr17_40671016_40672976_S 2 . -1 -1 . -1 . . . . . . . chr17 40086525 40086918 11111 2 ENSG00000204815_chr17_39112556_39114694_S:ENSG00000204815_chr17_40671016_40672976_S 2 . -1 -1 . -1 . . . . . . . chr17 40688613 40688790 10000 1 NAGLU_chr17_41607400_41609355_S 1 chr17 40688633 40688634 CM981356 + 1 DM NULL NAGLU Sanfilippo syndrome B GGCTCTCAGCTGCGCCTGCCGCGGCCACTG[C/T]CAGCCGTGCCGGGGGAGCTGACCGAGGCCA 9443878 chr17 40688613 40688790 10000 1 NAGLU_chr17_41607400_41609355_S 1 chr17 40688648 40688649 CM094890 + 1 DM NULL NAGLU Sanfilippo syndrome B CTGCCGCGGCCACTGCCAGCCGTGCCGGGG[G/T]AGCTGACCGAGGCCACGCCCAACAGgtacc 19046346 chr17 40714065 40714226 11111 2 COASY_chr17_41367800_41370000_S:COASY_chr17_41607400_41609355_S 2 . -1 -1 . -1 . . . . . . . chr17 40714806 40715103 11111 1 COASY_chr17_41367800_41370000_S:COASY_chr17_41607400_41609355_S 2 chr17 40714815 40714816 CM140054 + 1 DM NULL COASY Neurodegeneration with brain iron accumulation GGCCCGGCTCAGCCCCAGTCCAGCCCCGTG[C/T]AGGCCACGTTTGAGGTTCTTGATTTCATCA 24360804 chr17 40717012 40717238 10000 3 COASY_chr17_40671016_40672976_S:COASY_chr17_41367800_41370000_S:COASY_chr17_41607400_41609355_S 3 . -1 -1 . -1 . . . . . . . chr17 40718909 40719106 11111 1 COASY_chr17_40671016_40672976_S:COASY_chr17_41367800_41370000_S:COASY_chr17_41607400_41609355_S 3 . -1 -1 . -1 . . . . . . . chr17 40719684 40719904 11101 1 COASY_chr17_40671016_40672976_S:COASY_chr17_41367800_41370000_S:COASY_chr17_41607400_41609355_S 3 . -1 -1 . -1 . . . . . . . chr17 40729743 40729926 11101 2 PSMC3IP_chr17_41367800_41370000_S:PSMC3IP_chr17_41607400_41609355_S 2 . -1 -1 . -1 . . . . . . . chr17 40949423 40949595 10101 2 CNTD1_chr17_40671016_40672976_S:CNTD1_chr17_41367800_41370000_S:CNTD1_chr17_41607400_41609355_S 3 . -1 -1 . -1 . . . . . . . chr17 40950535 40950807 11111 2 CNTD1_chr17_40671016_40672976_S:CNTD1_chr17_41367800_41370000_S:CNTD1_chr17_41607400_41609355_S 3 . -1 -1 . -1 . . . . . . . chr17 41052516 41052852 11010 4 G6PC_chr17_41607400_41609355_S 1 chr17 41052817 41052818 CR053501 + 3 DFP rs145752565 G6PC Hypoglycaemia: association with TATAAAACAGGGGCAAGGCACAGACTCATA[G/A]CAGAGCAATCACCACCAAGCCTGGAATAAC 15918042 chr17 41150105 41150479 11111 1 RPL27_chr17_40671016_40672976_S:RPL27_chr17_41286600_41287600_S:RPL27_chr17_41367800_41370000_S:RPL27_chr17_41605101_41606400_S:RPL27_chr17_41607400_41609355_S:RPL27_chr17_41649772_41651200_S:RPL27_chr17_41849200_41850600_S 7 . -1 -1 . -1 . . . . . . . chr17 41176616 41176717 11111 1 VAT1_chr17_41220671_41221734_S 1 . -1 -1 . -1 . . . . . . . chr17 41220712 41221489 11001 4 C17orf53_chr17_42218984_42220107_S:PLEKHH3_chr17_40833393_40833693_S:VAT1_chr17_41176436_41176782_S:VPS25_chr17_40925218_40926097_S 4 . -1 -1 . -1 . . . . . . . chr17 41277442 41277807 10000 2 BRCA1_chr17_41607400_41609355_S 1 . -1 -1 . -1 . . . . . . . chr17 41286742 41286950 10000 2 RPL27_chr17_41149922_41151136_S 1 . -1 -1 . -1 . . . . . . . chr17 41321819 41322119 00000 3 BRCA1_chr17_41607400_41609355_S 1 . -1 -1 . -1 . . . . . . . chr17 41322338 41322694 00000 1 BRCA1_chr17_41607400_41609355_S 1 . -1 -1 . -1 . . . . . . . chr17 41322991 41323193 00000 2 BRCA1_chr17_41607400_41609355_S 1 . -1 -1 . -1 . . . . . . . chr17 41368874 41369001 10101 1 ATXN7L3_chr17_42275900_42278381_S:C17orf53_chr17_42218984_42220107_S:CNTD1_chr17_40948884_40951000_S:COASY_chr17_40713769_40715413_S:COASY_chr17_40716882_40720028_S:DHX8_chr17_41560897_41561818_S:ETV4_chr17_41621411_41624231_S:G6PC3_chr17_42147861_42148733_S:HDAC5_chr17_42200563_42201685_S:PSMC3IP_chr17_40729298_40730755_S:RPL27_chr17_41149922_41151136_S:UBTF_chr17_42295458_42299013_S:VPS25_chr17_40925218_40926097_S:WNK4_chr17_40931800_40933786_S 14 . -1 -1 . -1 . . . . . . . chr17 41445220 41445421 10000 1 ENSG00000243582_chr17_41607400_41609355_S 1 . -1 -1 . -1 . . . . . . . chr17 41446099 41446250 11000 1 ENSG00000243582_chr17_41607400_41609355_S 1 . -1 -1 . -1 . . . . . . . chr17 41446823 41446875 10000 1 ENSG00000243582_chr17_41607400_41609355_S 1 . -1 -1 . -1 . . . . . . . chr17 41476181 41476368 11100 2 ARL4D_chr17_41478754_41478975_F 1 . -1 -1 . -1 . . . . . . . chr17 41534239 41534800 11100 4 GRN_chr17_42422284_42423329_S:VPS25_chr17_40925218_40926097_S 2 . -1 -1 . -1 . . . . . . . chr17 41561132 41561389 10011 3 DHX8_chr17_41367800_41370000_S:DHX8_chr17_41607400_41609355_S 2 . -1 -1 . -1 . . . . . . . chr17 41621861 41622232 11100 2 ETV4_chr17_41367800_41370000_S:ETV4_chr17_41607400_41609355_S 2 . -1 -1 . -1 . . . . . . . chr17 41849314 41849665 11000 2 GRN_chr17_42422284_42423329_S:RPL27_chr17_41149922_41151136_S:VPS25_chr17_40925218_40926097_S 3 . -1 -1 . -1 . . . . . . . chr17 41850327 41850513 10001 1 GRN_chr17_42422284_42423329_S:RPL27_chr17_41149922_41151136_S:VPS25_chr17_40925218_40926097_S 3 . -1 -1 . -1 . . . . . . . chr17 42147974 42148192 11111 2 G6PC3_chr17_41367800_41370000_S:G6PC3_chr17_41607400_41609355_S 2 . -1 -1 . -1 . . . . . . . chr17 42201192 42201482 11110 1 HDAC5_chr17_41367800_41370000_S:HDAC5_chr17_41607400_41609355_S 2 . -1 -1 . -1 . . . . . . . chr17 42216077 42216204 10000 1 C17orf53_chr17_42215488_42219774_F 1 . -1 -1 . -1 . . . . . . . chr17 42216077 42216233 10000 1 C17orf53_chr17_42215472_42215904_F 1 . -1 -1 . -1 . . . . . . . chr17 42277400 42277729 10000 1 ATXN7L3_chr17_41367800_41370000_S:ATXN7L3_chr17_41607400_41609355_S:ATXN7L3_chr17_42278333_42278607_F 3 . -1 -1 . -1 . . . . . . . chr17 42404279 42404346 11101 1 SLC25A39_chr17_42404001_42404290_F 1 . -1 -1 . -1 . . . . . . . chr17 42404279 42404410 11101 1 SLC25A39_chr17_42401716_42404346_F 1 . -1 -1 . -1 . . . . . . . chr17 42422387 42422654 11111 3 GRN_chr17_41470432_41471471_S:GRN_chr17_41534200_41534800_S:GRN_chr17_41607400_41609355_S:GRN_chr17_41649772_41651200_S:GRN_chr17_41849200_41850600_S:GRN_chr17_42425585_42425836_F:GRN_chr17_43208800_43209346_S 7 chr17 42422527 42422528 CR084963 + 3 DM? NULL GRN Amyotrophic lateral sclerosis AGGAAGCAGGGAGGAGAGTGATTTGAGTAG[A/G]AAAGAAACACAGCATTCCAGGCTGGCCCCA 18184915 chr17 42422387 42422654 11111 3 GRN_chr17_41470432_41471471_S:GRN_chr17_41534200_41534800_S:GRN_chr17_41607400_41609355_S:GRN_chr17_41649772_41651200_S:GRN_chr17_41849200_41850600_S:GRN_chr17_42425585_42425836_F:GRN_chr17_43208800_43209346_S 7 chr17 42422638 42422639 CR072310 + 3 DM? rs76783532 GRN Frontotemporal dementia CAATGGAAACTGAGGTAGGCGGGTCATCGC[G/T]CTGGGGTCTGTAGTCTGAGCGCTACCCGGT 17345602 chr17 43212876 43213152 11111 3 PLCD3_chr17_43208800_43209346_S 1 . -1 -1 . -1 . . . . . . . chr17 43225127 43225184 11111 2 HEXIM1_chr17_43221862_43221955_F 1 . -1 -1 . -1 . . . . . . . chr17 43862385 43862560 10000 1 CRHR1_chr17_43863369_43863507_F 1 . -1 -1 . -1 . . . . . . . chr17 44271442 44271755 10001 2 KIAA1267_chr17_44271977_44272219_F:KIAA1267_chr17_44271977_44272219_F 2 . -1 -1 . -1 . . . . . . . chr17 44271677 44271755 10001 2 KIAA1267_chr17_44269665_44272299_F:KIAA1267_chr17_44269771_44272299_F 2 . -1 -1 . -1 . . . . . . . chr17 45770713 45770811 10001 2 TBKBP1_chr17_45771040_45773130_F 1 . -1 -1 . -1 . . . . . . . chr17 48473654 48473877 11111 1 LRRC59_chr17_48278107_48278282_S:LRRC59_chr17_49134373_49135134_S 2 . -1 -1 . -1 . . . . . . . chr17 48536311 48536787 11000 4 NME2_chr17_49230552_49231721_S 1 . -1 -1 . -1 . . . . . . . chr17 48737653 48738205 10000 2 NME2_chr17_49230552_49231721_S 1 . -1 -1 . -1 . . . . . . . chr17 48739171 48739390 11101 2 NME2_chr17_49230552_49231721_S 1 . -1 -1 . -1 . . . . . . . chr17 48784442 48784484 10000 1 ANKRD40_chr17_49134373_49135134_S 1 . -1 -1 . -1 . . . . . . . chr17 48785245 48785404 11111 2 ANKRD40_chr17_49134373_49135134_S 1 . -1 -1 . -1 . . . . . . . chr17 48834552 48834741 10001 2 NME2_chr17_49230552_49231721_S 1 . -1 -1 . -1 . . . . . . . chr17 48942313 48942411 11111 1 TOB1_chr17_49134373_49135134_S 1 . -1 -1 . -1 . . . . . . . chr17 48943715 48944164 11101 1 TOB1_chr17_49134373_49135134_S 1 . -1 -1 . -1 . . . . . . . chr17 48944760 48945214 11101 2 TOB1_chr17_49134373_49135134_S 1 . -1 -1 . -1 . . . . . . . chr17 49230601 49230840 10111 2 NME2_chr17_48536075_48536967_S:NME2_chr17_48737515_48739780_S:NME2_chr17_48834243_48834800_S:NME2_chr17_49134373_49135134_S 4 . -1 -1 . -1 . . . . . . . chr17 52978007 52978198 11111 1 TOM1L1_chr17_53523200_53524717_S 1 . -1 -1 . -1 . . . . . . . chr17 53523458 53523663 10000 1 TOM1L1_chr17_52977814_52978613_S 1 . -1 -1 . -1 . . . . . . . chr17 53523984 53524410 11000 3 TOM1L1_chr17_52977814_52978613_S 1 . -1 -1 . -1 . . . . . . . chr17 54987536 54987912 11000 1 TRIM25_chr17_54987224_54987877_F:TRIM25_chr17_54987350_54991909_F 2 . -1 -1 . -1 . . . . . . . chr17 54989602 54990093 11000 4 TRIM25_chr17_54987224_54987877_F 1 . -1 -1 . -1 . . . . . . . chr17 54991367 54991578 11000 1 TRIM25_chr17_54987224_54987877_F:TRIM25_chr17_54993018_54993544_F:TRIM25_chr17_54994598_54994773_F 3 . -1 -1 . -1 . . . . . . . chr17 54993166 54993413 10000 3 TRIM25_chr17_54990908_54993482_F:TRIM25_chr17_54993018_54993544_F:TRIM25_chr17_54994598_54994773_F 3 . -1 -1 . -1 . . . . . . . chr17 55038389 55038558 11000 1 COIL_chr17_55952409_55953483_S 1 . -1 -1 . -1 . . . . . . . chr17 56161836 56162253 11111 2 ENSG00000121083_chr17_55184952_55185511_S:ENSG00000121083_chr17_55952409_55953483_S 2 . -1 -1 . -1 . . . . . . . chr17 56429463 56429832 11111 2 SUPT4H1_chr17_56426877_56426962_F:SUPT4H1_chr17_56428194_56428499_F 2 . -1 -1 . -1 . . . . . . . chr17 56494879 56495147 11111 3 RNF43_chr17_55952409_55953483_S:RNF43_chr17_56072706_56072924_S 2 . -1 -1 . -1 . . . . . . . chr17 56594320 56594637 11111 1 MTMR4_chr17_55952409_55953483_S:MTMR4_chr17_55984392_55984785_S:MTMR4_chr17_56072706_56072924_S:MTMR4_chr17_56471800_56472600_S:MTMR4_chr17_57542229_57543299_S:MTMR4_chr17_57546657_57547741_S 6 . -1 -1 . -1 . . . . . . . chr17 56595502 56595699 11111 1 MTMR4_chr17_55952409_55953483_S:MTMR4_chr17_55984392_55984785_S:MTMR4_chr17_56072706_56072924_S:MTMR4_chr17_56471800_56472600_S:MTMR4_chr17_57542229_57543299_S:MTMR4_chr17_57546657_57547741_S 6 . -1 -1 . -1 . . . . . . . chr17 56708979 56709511 10000 1 ENSG00000212195_chr17_55952409_55953483_S:ENSG00000212195_chr17_56072706_56072924_S:ENSG00000212195_chr17_57542229_57543299_S 3 . -1 -1 . -1 . . . . . . . chr17 57407061 57407294 11011 2 YPEL2_chr17_57542229_57543299_S:YPEL2_chr17_57930084_57932400_S 2 . -1 -1 . -1 . . . . . . . chr17 57408980 57409114 11101 1 YPEL2_chr17_57409690_57409997_F 1 . -1 -1 . -1 . . . . . . . chr17 57410282 57410297 11010 1 YPEL2_chr17_57408552_57410044_F 1 . -1 -1 . -1 . . . . . . . chr17 57542442 57542833 10000 3 ENSG00000212195_chr17_56708539_56709893_S:MTMR4_chr17_56594271_56596295_S:YPEL2_chr17_57406878_57407294_S 3 . -1 -1 . -1 . . . . . . . chr17 57543060 57543299 10000 4 ENSG00000212195_chr17_56708539_56709893_S:MTMR4_chr17_56594271_56596295_S:YPEL2_chr17_57406878_57407294_S 3 . -1 -1 . -1 . . . . . . . chr17 57547258 57547525 10000 3 MTMR4_chr17_56594271_56596295_S 1 . -1 -1 . -1 . . . . . . . chr17 57784775 57785056 11011 2 VMP1_chr17_57787983_57788139_F 1 . -1 -1 . -1 . . . . . . . chr17 57930628 57930799 10101 1 PPM1D_chr17_58676594_58678952_S:YPEL2_chr17_57406878_57407294_S:YPEL2_chr17_57409405_57410180_S 3 . -1 -1 . -1 . . . . . . . chr17 58467646 58467836 10000 1 USP32_chr17_58467546_58470086_F:USP32_chr17_58467674_58467818_F 2 . -1 -1 . -1 . . . . . . . chr17 58469429 58469861 10010 1 USP32_chr17_58467674_58467818_F:USP32_chr17_58468371_58468697_F 2 . -1 -1 . -1 . . . . . . . chr17 58677481 58677644 11111 1 PPM1D_chr17_57930084_57932400_S:PPM1D_chr17_58678620_58678973_F:PPM1D_chr17_59412267_59414258_S 3 . -1 -1 . -1 . . . . . . . chr17 58678437 58678754 10100 1 PPM1D_chr17_57930084_57932400_S:PPM1D_chr17_58677043_58678997_F:PPM1D_chr17_58678620_58678973_F:PPM1D_chr17_59412267_59414258_S 4 . -1 -1 . -1 . . . . . . . chr17 59413420 59413666 11010 4 C17orf82_chr17_59489715_59490837_S:MED13_chr17_60142156_60143582_S:PPM1D_chr17_58676594_58678952_S 3 . -1 -1 . -1 . . . . . . . chr17 59413909 59414149 11010 1 C17orf82_chr17_59489715_59490837_S:MED13_chr17_60142156_60143582_S:PPM1D_chr17_58676594_58678952_S 3 . -1 -1 . -1 . . . . . . . chr17 59940929 59941184 10111 1 BRIP1_chr17_59939507_59939855_F 1 . -1 -1 . -1 . . . . . . . chr17 62224800 62225044 11010 3 ENSG00000108654_chr17_62501081_62503922_S:ENSG00000256525_chr17_62492453_62493799_S 2 . -1 -1 . -1 . . . . . . . chr17 62227562 62228030 11010 3 ENSG00000256525_chr17_62492453_62493799_S 1 . -1 -1 . -1 . . . . . . . chr17 62264800 62264931 10000 3 ENSG00000108654_chr17_62501081_62503922_S:ENSG00000256525_chr17_62492453_62493799_S 2 . -1 -1 . -1 . . . . . . . chr17 62404086 62404340 11000 2 PECAM1_chr17_62403904_62404562_F:PECAM1_chr17_62404033_62407583_F 2 . -1 -1 . -1 . . . . . . . chr17 62502379 62502908 11111 2 ENSG00000108654_chr17_61655207_61655800_S:ENSG00000108654_chr17_62224800_62225760_S:ENSG00000108654_chr17_62264800_62265112_S 3 . -1 -1 . -1 . . . . . . . chr17 63052963 63053157 11101 2 GNA13_chr17_63053851_63054126_F 1 . -1 -1 . -1 . . . . . . . chr17 65241270 65241562 10000 1 HELZ_chr17_65243162_65243488_F 1 . -1 -1 . -1 . . . . . . . chr17 65713765 65714100 11010 2 NOL11_chr17_65268401_65268858_S:NOL11_chr17_65624888_65625036_S:NOL11_chr17_66259476_66259787_S:NOL11_chr17_66394816_66395248_S:NOL11_chr17_66610000_66610276_S 5 . -1 -1 . -1 . . . . . . . chr17 65991017 65991174 10000 3 C17orf58_chr17_65989264_65990909_F 1 . -1 -1 . -1 . . . . . . . chr17 65991017 65991483 10000 3 C17orf58_chr17_65991434_65991739_F 1 . -1 -1 . -1 . . . . . . . chr17 65991134 65991483 10000 3 C17orf58_chr17_65989264_65991787_F 1 . -1 -1 . -1 . . . . . . . chr17 65991930 65992039 10000 1 C17orf58_chr17_65989264_65991787_F 1 . -1 -1 . -1 . . . . . . . chr17 66259476 66259494 11000 1 NOL11_chr17_65713521_65714935_S 1 . -1 -1 . -1 . . . . . . . chr17 66452377 66452580 11000 1 WIPI1_chr17_66452400_66454153_F 1 . -1 -1 . -1 . . . . . . . chr17 66452400 66452580 11000 1 WIPI1_chr17_66452519_66452682_F 1 . -1 -1 . -1 . . . . . . . chr17 66452900 66452982 10000 1 WIPI1_chr17_66452400_66454153_F 1 . -1 -1 . -1 . . . . . . . chr17 66452900 66453095 10000 1 WIPI1_chr17_66452519_66452682_F 1 . -1 -1 . -1 . . . . . . . chr17 66453802 66454071 10000 3 WIPI1_chr17_66452519_66452682_F 1 . -1 -1 . -1 . . . . . . . chr17 66507609 66507824 11000 1 PRKAR1A_chr17_66509186_66509763_F 1 . -1 -1 . -1 . . . . . . . chr17 66597394 66597616 11000 2 FAM20A_chr17_66597881_66598319_F 1 . -1 -1 . -1 . . . . . . . chr17 66597581 66597616 11000 2 FAM20A_chr17_66596594_66598301_F 1 . -1 -1 . -1 . . . . . . . chr17 66773695 66773853 10000 1 ENSG00000108932_chr17_66287257_66288956_S:ENSG00000171634_chr17_65820901_65822558_S 2 . -1 -1 . -1 . . . . . . . chr17 66774225 66774399 11000 4 ENSG00000108932_chr17_66287257_66288956_S:ENSG00000171634_chr17_65820901_65822558_S 2 . -1 -1 . -1 . . . . . . . chr17 66790048 66790463 10000 4 ENSG00000108932_chr17_66287257_66288956_S:ENSG00000171634_chr17_65820901_65822558_S 2 . -1 -1 . -1 . . . . . . . chr17 70116264 70116387 11100 1 SOX9_chr17_70122200_70123400_S 1 . -1 -1 . -1 . . . . . . . chr17 71086759 71086960 11000 2 SLC39A11_chr17_71085897_71086274_F 1 . -1 -1 . -1 . . . . . . . chr17 71258287 71258701 11010 3 CPSF4L_chr17_70408715_70410400_S 1 . -1 -1 . -1 . . . . . . . chr17 71285016 71285380 11000 1 LINC00511_chr17_70586992_70589126_S:RPL38_chr17_72199675_72200563_S:RPL38_chr17_72201701_72201889_S 3 . -1 -1 . -1 . . . . . . . chr17 71794400 71794782 11000 3 GPRC5C_chr17_72439000_72439695_S:RPL38_chr17_72199675_72200563_S:SLC9A3R1_chr17_72744354_72747249_S 3 . -1 -1 . -1 . . . . . . . chr17 72199675 72199835 11111 1 RPL38_chr17_71284600_71286268_S:RPL38_chr17_71794400_71794933_S:RPL38_chr17_72438600_72439000_S:RPL38_chr17_72769814_72770633_S 4 . -1 -1 . -1 . . . . . . . chr17 72426972 72427179 11010 3 GPRC5C_chr17_72426026_72426159_F 1 . -1 -1 . -1 . . . . . . . chr17 72427371 72427848 11010 1 GPRC5C_chr17_72426026_72426159_F 1 . -1 -1 . -1 . . . . . . . chr17 72428102 72428167 11010 2 GPRC5C_chr17_72426026_72426159_F 1 . -1 -1 . -1 . . . . . . . chr17 72438753 72439000 11010 4 GPRC5C_chr17_72439000_72439695_S:RPL38_chr17_72199675_72200563_S:SLC9A3R1_chr17_72744354_72747249_S 3 . -1 -1 . -1 . . . . . . . chr17 72439000 72439188 11010 4 GPRC5C_chr17_71794400_71794933_S:GPRC5C_chr17_72438600_72439000_S:GPRC5C_chr17_72769814_72770633_S 3 . -1 -1 . -1 . . . . . . . chr17 72439451 72439695 11000 2 GPRC5C_chr17_71794400_71794933_S:GPRC5C_chr17_72438600_72439000_S:GPRC5C_chr17_72769814_72770633_S 3 . -1 -1 . -1 . . . . . . . chr17 72524814 72524966 11000 1 CD300LB_chr17_72524644_72528113_F:CD300LB_chr17_72524673_72525015_F 2 . -1 -1 . -1 . . . . . . . chr17 72732599 72732955 10000 4 RAB37_chr17_72728741_72729539_F:RAB37_chr17_72728741_72729539_F:RAB37_chr17_72734256_72734824_F 3 . -1 -1 . -1 . . . . . . . chr17 72732855 72732955 10000 4 RAB37_chr17_72734256_72734824_F 1 . -1 -1 . -1 . . . . . . . chr17 72744594 72744826 10101 1 SLC9A3R1_chr17_71794400_71794933_S:SLC9A3R1_chr17_72438600_72439000_S:SLC9A3R1_chr17_72769814_72770633_S:SLC9A3R1_chr17_73693120_73694400_S 4 . -1 -1 . -1 . . . . . . . chr17 72746515 72746951 11111 2 SLC9A3R1_chr17_71794400_71794933_S:SLC9A3R1_chr17_72438600_72439000_S:SLC9A3R1_chr17_72769814_72770633_S:SLC9A3R1_chr17_73693120_73694400_S 4 . -1 -1 . -1 . . . . . . . chr17 72772447 72772654 11100 1 TMEM104_chr17_72776079_72776526_F 1 . -1 -1 . -1 . . . . . . . chr17 72774119 72774302 10111 1 TMEM104_chr17_72776079_72776526_F 1 . -1 -1 . -1 . . . . . . . chr17 73511570 73511823 10111 1 CASKIN2_chr17_72769814_72770633_S:CASKIN2_chr17_73844400_73845337_S 2 . -1 -1 . -1 . . . . . . . chr17 73513716 73513871 11000 1 TSEN54_chr17_73514344_73514665_F 1 chr17 73513738 73513739 CS118261 + 2 DM NULL TSEN54 Pontocerebellar hypoplasia 5 ACCACACTGTGACCTTCCTGCAGTACCAGg[T/C]atctgccaccaccccgcctccgggagccac 21368912 chr17 73553225 73553838 11111 3 LLGL2_chr17_73844400_73845337_S 1 . -1 -1 . -1 . . . . . . . chr17 73642265 73642621 11100 1 LOC100130933_chr17_73641652_73641951_F:SMIM6_chr17_73844400_73845337_S 2 . -1 -1 . -1 . . . . . . . chr17 73663216 73663390 10110 2 RECQL5_chr17_73844400_73845337_S 1 . -1 -1 . -1 . . . . . . . chr17 73693169 73693396 11000 1 H3F3B_chr17_73774678_73776287_S:PRPSAP1_chr17_74377401_74382445_S:PRPSAP1_chr17_74382551_74382800_S:SLC9A3R1_chr17_72744354_72747249_S:UNC13D_chr17_73839777_73841809_S 5 . -1 -1 . -1 . . . . . . . chr17 73851454 73851807 11111 2 WBP2_chr17_73850621_73850811_F:WBP2_chr17_73854851_73855120_F:WBP2_chr17_74592400_74592800_S 3 . -1 -1 . -1 . . . . . . . chr17 73872189 73872365 10000 1 TRIM47_chr17_73844400_73845337_S 1 . -1 -1 . -1 . . . . . . . chr17 73872760 73872997 10000 2 TRIM47_chr17_73844400_73845337_S 1 . -1 -1 . -1 . . . . . . . chr17 73873400 73873596 10000 1 TRIM47_chr17_73844400_73845337_S 1 . -1 -1 . -1 . . . . . . . chr17 73874018 73874243 10100 1 TRIM47_chr17_73844400_73845337_S 1 . -1 -1 . -1 . . . . . . . chr17 74347938 74348065 11011 3 PRPSAP1_chr17_75302800_75303600_S 1 . -1 -1 . -1 . . . . . . . chr17 74553014 74553849 11000 2 SNHG16_chr17_73844400_73845337_S:SNHG16_chr17_75204000_75204938_S:SNHG16_chr17_75295503_75296719_S:SNHG16_chr17_75302800_75303600_S:SNHG16_chr17_75318668_75319928_S 5 . -1 -1 . -1 . . . . . . . chr17 74592473 74592800 11000 4 PRPSAP1_chr17_74377401_74382445_S:SEC14L1_chr17_75084466_75085508_S:UNC13D_chr17_73839777_73841809_S:WBP2_chr17_73851010_73852624_S 4 . -1 -1 . -1 . . . . . . . chr17 74722619 74722864 10010 2 JMJD6_chr17_73844400_73845337_S:JMJD6_chr17_75204000_75204938_S:JMJD6_chr17_75295503_75296719_S:JMJD6_chr17_75301000_75301400_S:JMJD6_chr17_75302800_75303600_S:JMJD6_chr17_75309200_75309687_S:JMJD6_chr17_75318668_75319928_S:JMJD6_chr17_75378400_75378936_S:JMJD6_chr17_75381800_75382532_S:JMJD6_chr17_75382703_75382800_S:METTL23_chr17_74723995_74724371_F 11 . -1 -1 . -1 . . . . . . . chr17 74732333 74732478 10010 1 MFSD11_chr17_73842000_73843800_S:MFSD11_chr17_73844400_73845337_S:MFSD11_chr17_75302800_75303600_S:MFSD11_chr17_75318668_75319928_S:MFSD11_chr17_75373200_75373800_S:MFSD11_chr17_75381800_75382532_S:MFSD11_chr17_75382703_75382800_S:MFSD11_chr17_75456000_75456600_S 8 . -1 -1 . -1 . . . . . . . chr17 74733440 74733554 10000 1 MFSD11_chr17_73842000_73843800_S:MFSD11_chr17_73844400_73845337_S:MFSD11_chr17_75302800_75303600_S:MFSD11_chr17_75318668_75319928_S:MFSD11_chr17_75373200_75373800_S:MFSD11_chr17_75381800_75382532_S:MFSD11_chr17_75382703_75382800_S:MFSD11_chr17_75456000_75456600_S 8 . -1 -1 . -1 . . . . . . . chr17 75084567 75084773 11100 1 SEC14L1_chr17_74592400_74592800_S:SEC14L1_chr17_75302800_75303600_S 2 . -1 -1 . -1 . . . . . . . chr17 75136705 75136874 10000 2 SEC14L1_chr17_75134867_75135304_F:SEC14L1_chr17_75302800_75303600_S 2 . -1 -1 . -1 . . . . . . . chr17 75142194 75142301 10000 1 PRPSAP1_chr17_74377401_74382445_S 1 . -1 -1 . -1 . . . . . . . chr17 75281952 75282074 10000 1 ENSG00000184640_chr17_75302800_75303600_S 1 . -1 -1 . -1 . . . . . . . chr17 75282253 75283061 11010 3 ENSG00000184640_chr17_75302800_75303600_S 1 . -1 -1 . -1 . . . . . . . chr17 75282403 75283061 11010 3 SEPT9_chr17_75282883_75284473_F 1 . -1 -1 . -1 . . . . . . . chr17 75282883 75283061 11010 3 SEPT9_chr17_75282703_75283463_F 1 . -1 -1 . -1 . . . . . . . chr17 75283301 75283411 11000 1 ENSG00000184640_chr17_75302800_75303600_S:SEPT9_chr17_75282703_75283463_F:SEPT9_chr17_75282883_75284473_F 3 . -1 -1 . -1 . . . . . . . chr17 75283795 75284000 10010 1 ENSG00000184640_chr17_75302800_75303600_S 1 . -1 -1 . -1 . . . . . . . chr17 75283795 75284078 10010 1 SEPT9_chr17_75282703_75283463_F 1 . -1 -1 . -1 . . . . . . . chr17 75284955 75285177 10000 2 ENSG00000184640_chr17_75302800_75303600_S 1 . -1 -1 . -1 . . . . . . . chr17 75303074 75303301 10000 1 AANAT_chr17_74448346_74449400_S:BIRC5_chr17_76210076_76210906_S:ENSG00000184640_chr17_75281791_75284000_S:ENSG00000184640_chr17_75284800_75285535_S:ENSG00000184640_chr17_75368646_75370942_S:ENSG00000184640_chr17_75371571_75371830_S:ENSG00000184640_chr17_75372178_75372301_S:ENSG00000184640_chr17_75372831_75373200_S:ENSG00000184640_chr17_75445564_75448718_S:JMJD6_chr17_74721957_74723577_S:MFSD11_chr17_74732156_74734457_S:PRPSAP1_chr17_74347873_74348065_S:PRPSAP1_chr17_74348834_74350666_S:PRPSAP1_chr17_74377401_74382445_S:PRPSAP1_chr17_74382551_74382800_S:RHBDF2_chr17_74495334_74495715_S:SEC14L1_chr17_75084466_75085508_S:SEC14L1_chr17_75136214_75137793_S:SNHG16_chr17_74553014_74554847_S:SNHG16_chr17_74556314_74556465_S:SPHK1_chr17_74372244_74373291_S:SYNGR2_chr17_76164281_76165243_S:SYNGR2_chr17_76165522_76165638_S:SYNGR2_chr17_76165925_76166050_S:TK1_chr17_76182847_76184613_S:TK1_chr17_76186253_76186567_S:TK1_chr17_76186744_76186849_S:TK1_chr17_76187118_76187239_S:TMC6_chr17_76122879_76123015_S:TMC6_chr17_76123284_76125511_S 30 . -1 -1 . -1 . . . . . . . chr17 75309391 75309585 11000 3 JMJD6_chr17_74721957_74723577_S:PRPSAP1_chr17_74377401_74382445_S:PRPSAP1_chr17_74382551_74382800_S 3 . -1 -1 . -1 . . . . . . . chr17 75373314 75373664 11011 3 MFSD11_chr17_74732156_74734457_S:PRPSAP1_chr17_74377401_74382445_S:TMC6_chr17_76123284_76125511_S 3 . -1 -1 . -1 . . . . . . . chr17 75381816 75382003 10100 1 JMJD6_chr17_74721957_74723577_S:MFSD11_chr17_74732156_74734457_S:PRPSAP1_chr17_74377401_74382445_S:PRPSAP1_chr17_74382551_74382800_S:SYNGR2_chr17_76165925_76166050_S:TK1_chr17_76182847_76184613_S:TK1_chr17_76186253_76186567_S:TMC6_chr17_76123284_76125511_S 8 . -1 -1 . -1 . . . . . . . chr17 75382345 75382532 10100 2 JMJD6_chr17_74721957_74723577_S:MFSD11_chr17_74732156_74734457_S:PRPSAP1_chr17_74377401_74382445_S:PRPSAP1_chr17_74382551_74382800_S:SYNGR2_chr17_76165925_76166050_S:TK1_chr17_76182847_76184613_S:TK1_chr17_76186253_76186567_S:TMC6_chr17_76123284_76125511_S 8 . -1 -1 . -1 . . . . . . . chr17 75382703 75382728 10100 2 ENSG00000184640_chr17_75445564_75448718_S:JMJD6_chr17_74721957_74723577_S:MFSD11_chr17_74732156_74734457_S:PRPSAP1_chr17_74382551_74382800_S:TK1_chr17_76182847_76184613_S:TK1_chr17_76186253_76186567_S:TMC6_chr17_76123284_76125511_S 7 . -1 -1 . -1 . . . . . . . chr17 75385924 75386138 10000 1 TK1_chr17_76182847_76184613_S:TMC6_chr17_76123284_76125511_S 2 . -1 -1 . -1 . . . . . . . chr17 75447450 75447593 11110 1 ENSG00000184640_chr17_75302800_75303600_S:ENSG00000184640_chr17_75318668_75319928_S:ENSG00000184640_chr17_75382703_75382800_S:ENSG00000184640_chr17_75456000_75456600_S 4 . -1 -1 . -1 . . . . . . . chr17 75456068 75456323 10000 2 ENSG00000184640_chr17_75445564_75448718_S:MFSD11_chr17_74732156_74734457_S:TK1_chr17_76182847_76184613_S:TMC6_chr17_76123284_76125511_S 4 . -1 -1 . -1 . . . . . . . chr17 76123716 76123881 10000 1 TMC6_chr17_75204000_75204938_S:TMC6_chr17_75295503_75296719_S:TMC6_chr17_75301000_75301400_S:TMC6_chr17_75302800_75303600_S:TMC6_chr17_75318668_75319928_S:TMC6_chr17_75373200_75373800_S:TMC6_chr17_75378400_75378936_S:TMC6_chr17_75381800_75382532_S:TMC6_chr17_75382703_75382800_S:TMC6_chr17_75385861_75386248_S:TMC6_chr17_75456000_75456600_S 11 . -1 -1 . -1 . . . . . . . chr17 76164520 76164683 10000 1 SYNGR2_chr17_75302800_75303600_S:SYNGR2_chr17_76165603_76166001_F 2 . -1 -1 . -1 . . . . . . . chr17 76183230 76183474 10001 1 TK1_chr17_75204000_75204938_S:TK1_chr17_75295503_75296719_S:TK1_chr17_75302800_75303600_S:TK1_chr17_75318668_75319928_S:TK1_chr17_75378400_75378936_S:TK1_chr17_75381800_75382532_S:TK1_chr17_75382703_75382800_S:TK1_chr17_75385861_75386248_S:TK1_chr17_75456000_75456600_S:TK1_chr17_76597536_76598569_S 10 . -1 -1 . -1 . . . . . . . chr17 76183976 76184265 10001 4 TK1_chr17_75204000_75204938_S:TK1_chr17_75295503_75296719_S:TK1_chr17_75302800_75303600_S:TK1_chr17_75318668_75319928_S:TK1_chr17_75378400_75378936_S:TK1_chr17_75381800_75382532_S:TK1_chr17_75382703_75382800_S:TK1_chr17_75385861_75386248_S:TK1_chr17_75456000_75456600_S:TK1_chr17_76597536_76598569_S 10 . -1 -1 . -1 . . . . . . . chr17 76186268 76186467 10001 1 TK1_chr17_75295503_75296719_S:TK1_chr17_75302800_75303600_S:TK1_chr17_75378400_75378936_S:TK1_chr17_75381800_75382532_S:TK1_chr17_75382703_75382800_S 5 . -1 -1 . -1 . . . . . . . chr17 76356162 76356405 11100 1 SOCS3_chr17_76356993_76357093_F 1 . -1 -1 . -1 . . . . . . . chr17 76356984 76357104 10101 1 SOCS3_chr17_76355657_76357244_F:SOCS3_chr17_76356993_76357093_F 2 . -1 -1 . -1 . . . . . . . chr17 76371912 76371984 11000 3 PGS1_chr17_76371378_76375235_F 1 . -1 -1 . -1 . . . . . . . chr17 76371912 76372100 11000 3 PGS1_chr17_76371473_76371684_F:PGS1_chr17_76371853_76372298_F:PGS1_chr17_76371875_76375235_F 3 . -1 -1 . -1 . . . . . . . chr17 76374610 76374772 11101 1 PGS1_chr17_76371473_76371684_F:PGS1_chr17_76371853_76372298_F:PGS1_chr17_76377337_76378350_F 3 . -1 -1 . -1 . . . . . . . chr17 76777244 76777521 10101 2 CYTH1_chr17_76775899_76776536_F 1 . -1 -1 . -1 . . . . . . . chr17 76778553 76778714 11111 1 CYTH1_chr17_76775899_76776536_F 1 . -1 -1 . -1 . . . . . . . chr17 78235223 78235475 10000 1 RNF213_chr17_78238527_78238862_F 1 . -1 -1 . -1 . . . . . . . chr17 78237276 78237422 10100 2 RNF213_chr17_78238527_78238862_F 1 . -1 -1 . -1 . . . . . . . chr17 79010107 79010267 10000 1 BAIAP2_chr17_79011145_79011369_F 1 . -1 -1 . -1 . . . . . . . chr17 79010844 79011053 11100 1 BAIAP2_chr17_79011145_79011369_F 1 . -1 -1 . -1 . . . . . . . chr17 79010845 79011053 11100 1 BAIAP2_chr17_79008446_79011458_F 1 . -1 -1 . -1 . . . . . . . chr17 79011512 79011669 11101 1 BAIAP2_chr17_79008446_79011458_F 1 . -1 -1 . -1 . . . . . . . chr17 79669427 79669888 10000 2 SLC25A10_chr17_79978000_79978200_S:SLC25A10_chr17_80197400_80198400_S:SLC25A10_chr17_80200600_80201551_S:SLC25A10_chr17_80526400_80527333_S 4 . -1 -1 . -1 . . . . . . . chr17 79678856 79679241 10101 2 SLC25A10_chr17_79823400_79824205_S:SLC25A10_chr17_79978000_79978200_S:SLC25A10_chr17_80014600_80015751_S:SLC25A10_chr17_80197400_80198400_S:SLC25A10_chr17_80200600_80201551_S:SLC25A10_chr17_80201685_80201933_S:SLC25A10_chr17_80526400_80527333_S:SLC25A10_chr17_80550089_80550600_S 8 . -1 -1 . -1 . . . . . . . chr17 79680731 79681001 10101 1 SLC25A10_chr17_79823400_79824205_S:SLC25A10_chr17_79978000_79978200_S:SLC25A10_chr17_80014600_80015751_S:SLC25A10_chr17_80197400_80198400_S:SLC25A10_chr17_80200600_80201551_S:SLC25A10_chr17_80201685_80201933_S:SLC25A10_chr17_80526400_80527333_S:SLC25A10_chr17_80550089_80550600_S 8 . -1 -1 . -1 . . . . . . . chr17 79817390 79817557 10101 1 P4HB_chr17_79978000_79978200_S:P4HB_chr17_80197400_80198400_S:P4HB_chr17_80200600_80201551_S:P4HB_chr17_80526400_80527333_S 4 . -1 -1 . -1 . . . . . . . chr17 79823716 79824051 10101 2 ARHGDIA_chr17_79827200_79830226_S:DCXR_chr17_79994614_79995843_S:ENSG00000245410_chr17_80198400_80200600_S:FASN_chr17_80054025_80057110_S:LRRC45_chr17_79978200_79981876_S:MAFG_chr17_79884103_79885268_S:NOTUM_chr17_79916739_79918818_S:PCYT2_chr17_79867967_79869835_S:SLC25A10_chr17_79678750_79681503_S 9 . -1 -1 . -1 . . . . . . . chr17 79829197 79829349 10100 1 ARHGDIA_chr17_79823400_79824205_S:ARHGDIA_chr17_79961080_79962400_S:ARHGDIA_chr17_79978000_79978200_S:ARHGDIA_chr17_80014600_80015751_S:ARHGDIA_chr17_80197400_80198400_S:ARHGDIA_chr17_80200600_80201551_S:ARHGDIA_chr17_80201685_80201933_S:ARHGDIA_chr17_80304200_80305127_S:ARHGDIA_chr17_80483200_80483800_S:ARHGDIA_chr17_80509637_80509782_S:ARHGDIA_chr17_80512207_80512401_S:ARHGDIA_chr17_80526400_80527333_S:ARHGDIA_chr17_80550089_80550600_S 13 . -1 -1 . -1 . . . . . . . chr17 79830151 79830226 10100 1 ARHGDIA_chr17_79823400_79824205_S:ARHGDIA_chr17_79961080_79962400_S:ARHGDIA_chr17_79978000_79978200_S:ARHGDIA_chr17_80014600_80015751_S:ARHGDIA_chr17_80197400_80198400_S:ARHGDIA_chr17_80200600_80201551_S:ARHGDIA_chr17_80201685_80201933_S:ARHGDIA_chr17_80304200_80305127_S:ARHGDIA_chr17_80483200_80483800_S:ARHGDIA_chr17_80509637_80509782_S:ARHGDIA_chr17_80512207_80512401_S:ARHGDIA_chr17_80526400_80527333_S:ARHGDIA_chr17_80550089_80550600_S 13 . -1 -1 . -1 . . . . . . . chr17 79868156 79868624 11111 1 PCYT2_chr17_79544000_79544748_S:PCYT2_chr17_79823400_79824205_S:PCYT2_chr17_79961080_79962400_S:PCYT2_chr17_79978000_79978200_S:PCYT2_chr17_80014600_80015751_S:PCYT2_chr17_80197400_80198400_S:PCYT2_chr17_80200600_80201551_S:PCYT2_chr17_80201685_80201933_S:PCYT2_chr17_80483200_80483800_S:PCYT2_chr17_80512207_80512401_S:PCYT2_chr17_80526400_80527333_S:PCYT2_chr17_80550089_80550600_S 12 . -1 -1 . -1 . . . . . . . chr17 79869577 79869744 11101 1 PCYT2_chr17_79544000_79544748_S:PCYT2_chr17_79823400_79824205_S:PCYT2_chr17_79961080_79962400_S:PCYT2_chr17_79978000_79978200_S:PCYT2_chr17_80014600_80015751_S:PCYT2_chr17_80197400_80198400_S:PCYT2_chr17_80200600_80201551_S:PCYT2_chr17_80201685_80201933_S:PCYT2_chr17_80483200_80483800_S:PCYT2_chr17_80512207_80512401_S:PCYT2_chr17_80526400_80527333_S:PCYT2_chr17_80550089_80550600_S 12 . -1 -1 . -1 . . . . . . . chr17 79882894 79883004 10001 1 MAFG_chr17_79978000_79978200_S 1 . -1 -1 . -1 . . . . . . . chr17 79884332 79884679 11000 1 MAFG_chr17_79823400_79824205_S:MAFG_chr17_79978000_79978200_S:MAFG_chr17_80163869_80164360_S:MAFG_chr17_80197400_80198400_S:MAFG_chr17_80200600_80201551_S:MAFG_chr17_80483200_80483800_S:MAFG_chr17_80509637_80509782_S:MAFG_chr17_80512207_80512401_S:MAFG_chr17_80526400_80527333_S:MAFG_chr17_80834025_80834744_S 10 . -1 -1 . -1 . . . . . . . chr17 79918114 79918368 11111 1 NOTUM_chr17_79823400_79824205_S:NOTUM_chr17_79961080_79962400_S:NOTUM_chr17_79978000_79978200_S:NOTUM_chr17_80014600_80015751_S:NOTUM_chr17_80163869_80164360_S:NOTUM_chr17_80197400_80198400_S:NOTUM_chr17_80200600_80201551_S:NOTUM_chr17_80509637_80509782_S:NOTUM_chr17_80512207_80512401_S:NOTUM_chr17_80526400_80527333_S:NOTUM_chr17_80699025_80699646_S:NOTUM_chr17_80834025_80834744_S 12 . -1 -1 . -1 . . . . . . . chr17 79980972 79981141 11101 1 LRRC45_chr17_79823400_79824205_S:LRRC45_chr17_79978000_79978200_S:LRRC45_chr17_80163869_80164360_S:LRRC45_chr17_80197400_80198400_S:LRRC45_chr17_80200600_80201551_S:LRRC45_chr17_80201685_80201933_S:LRRC45_chr17_80509637_80509782_S:LRRC45_chr17_80510038_80510130_S:LRRC45_chr17_80512207_80512401_S:LRRC45_chr17_80526400_80527333_S:LRRC45_chr17_80550089_80550600_S:LRRC45_chr17_80699025_80699646_S:LRRC45_chr17_80834025_80834744_S 13 . -1 -1 . -1 . . . . . . . chr17 79995244 79995843 11100 2 DCXR_chr17_79823400_79824205_S:DCXR_chr17_79961080_79962400_S:DCXR_chr17_79978000_79978200_S:DCXR_chr17_80014600_80015751_S:DCXR_chr17_80163869_80164360_S:DCXR_chr17_80197400_80198400_S:DCXR_chr17_80200600_80201551_S:DCXR_chr17_80201685_80201933_S:DCXR_chr17_80304200_80305127_S:DCXR_chr17_80509637_80509782_S:DCXR_chr17_80512207_80512401_S:DCXR_chr17_80526400_80527333_S:DCXR_chr17_80550089_80550600_S:DCXR_chr17_80699025_80699646_S:DCXR_chr17_80834025_80834744_S 15 chr17 79995506 79995507 CS119207 - 2 DM rs375243154 DCXR Pentosuria GCCGGGTGCTGGTCACCGGGGCAGGCAAAG[G/A]tgggcggcggggaaaggtgggcaaaggccg 22042873 chr17 80023686 80023796 11110 1 DUS1L_chr17_80197400_80198400_S:DUS1L_chr17_80526400_80527333_S 2 . -1 -1 . -1 . . . . . . . chr17 80053950 80054083 11000 1 FASN_chr17_80052713_80052821_F 1 . -1 -1 . -1 . . . . . . . chr17 80054025 80054083 11000 1 FASN_chr17_79823400_79824205_S:FASN_chr17_79961080_79962400_S:FASN_chr17_79977511_79977800_S:FASN_chr17_79978000_79978200_S:FASN_chr17_80014600_80015751_S:FASN_chr17_80197400_80198400_S:FASN_chr17_80200600_80201551_S:FASN_chr17_80201685_80201933_S:FASN_chr17_80483200_80483800_S:FASN_chr17_80512207_80512401_S:FASN_chr17_80526400_80527333_S:FASN_chr17_80550089_80550600_S 12 . -1 -1 . -1 . . . . . . . chr17 80056125 80056235 10000 1 FASN_chr17_79823400_79824205_S:FASN_chr17_79961080_79962400_S:FASN_chr17_79977511_79977800_S:FASN_chr17_79978000_79978200_S:FASN_chr17_80014600_80015751_S:FASN_chr17_80052713_80052821_F:FASN_chr17_80056613_80056910_F:FASN_chr17_80197400_80198400_S:FASN_chr17_80200600_80201551_S:FASN_chr17_80201685_80201933_S:FASN_chr17_80483200_80483800_S:FASN_chr17_80512207_80512401_S:FASN_chr17_80526400_80527333_S:FASN_chr17_80550089_80550600_S 14 . -1 -1 . -1 . . . . . . . chr17 80188813 80189061 10100 1 SLC16A3_chr17_79978000_79978200_S:SLC16A3_chr17_80185781_80189201_F:SLC16A3_chr17_80186386_80189201_F:SLC16A3_chr17_80188750_80189250_F:SLC16A3_chr17_80188750_80189250_F:SLC16A3_chr17_80188750_80189250_F:SLC16A3_chr17_80188750_80189250_F:SLC16A3_chr17_80188800_80190608_F:SLC16A3_chr17_80188800_80193275_F 9 . -1 -1 . -1 . . . . . . . chr17 80189792 80189952 10000 3 SLC16A3_chr17_79978000_79978200_S:SLC16A3_chr17_80188750_80189250_F:SLC16A3_chr17_80188750_80189250_F 3 . -1 -1 . -1 . . . . . . . chr17 80197634 80198208 10000 1 ARHGDIA_chr17_79827200_79830226_S:CSNK1D_chr17_80230464_80231969_S:DCXR_chr17_79994614_79995843_S:DUS1L_chr17_80022646_80023968_S:ENSG00000184009_chr17_79478817_79482500_S:ENSG00000245410_chr17_80198400_80200600_S:ENTHD2_chr17_79214761_79214923_S:FASN_chr17_80054025_80057110_S:FOXK2_chr17_80550600_80551245_S:GPS1_chr17_80008673_80010538_S:LRRC45_chr17_79978200_79981876_S:MAFG_chr17_79884103_79885268_S:NOTUM_chr17_79915698_79915791_S:NOTUM_chr17_79916739_79918818_S:P4HB_chr17_79817109_79818600_S:PCYT2_chr17_79867106_79867511_S:PCYT2_chr17_79867967_79869835_S:SIRT7_chr17_79876788_79876800_S:SLC25A10_chr17_79668488_79669130_S:SLC25A10_chr17_79669263_79671408_S:SLC25A10_chr17_79678750_79681503_S 21 . -1 -1 . -1 . . . . . . . chr17 80199547 80199758 10000 1 ENSG00000245410_chr17_79542622_79543000_S:ENSG00000245410_chr17_79544000_79544748_S:ENSG00000245410_chr17_79544840_79544940_S:ENSG00000245410_chr17_79823400_79824205_S:ENSG00000245410_chr17_79961080_79962400_S:ENSG00000245410_chr17_79978000_79978200_S:ENSG00000245410_chr17_80014600_80015751_S:ENSG00000245410_chr17_80197400_80198400_S:ENSG00000245410_chr17_80200600_80201551_S:ENSG00000245410_chr17_80201685_80201933_S:ENSG00000245410_chr17_80483200_80483800_S:ENSG00000245410_chr17_80526400_80527333_S:ENSG00000245410_chr17_80550089_80550600_S 13 . -1 -1 . -1 . . . . . . . chr17 80200855 80201285 10000 2 ARHGDIA_chr17_79827200_79830226_S:CSNK1D_chr17_80230464_80231969_S:DCXR_chr17_79994614_79995843_S:ENSG00000245410_chr17_80198400_80200600_S:ENTHD2_chr17_79214761_79214923_S:FASN_chr17_80054025_80057110_S:GPS1_chr17_80008673_80010538_S:LRRC45_chr17_79978200_79981876_S:MAFG_chr17_79884103_79885268_S:NOTUM_chr17_79915698_79915791_S:NOTUM_chr17_79916739_79918818_S:P4HB_chr17_79817109_79818600_S:PCYT2_chr17_79867106_79867511_S:PCYT2_chr17_79867967_79869835_S:SIRT7_chr17_79876788_79876800_S:SLC25A10_chr17_79668488_79669130_S:SLC25A10_chr17_79669263_79671408_S:SLC25A10_chr17_79678750_79681503_S 18 . -1 -1 . -1 . . . . . . . chr17 80230641 80230753 10000 1 CSNK1D_chr17_79978000_79978200_S:CSNK1D_chr17_80197400_80198400_S:CSNK1D_chr17_80200600_80201551_S:CSNK1D_chr17_80526400_80527333_S 4 . -1 -1 . -1 . . . . . . . chr17 80292417 80292421 10000 2 SECTM1_chr17_80290802_80291044_F 1 . -1 -1 . -1 . . . . . . . chr17 80292417 80292784 10000 2 SECTM1_chr17_80292742_80293207_F 1 . -1 -1 . -1 . . . . . . . chr17 80292442 80292784 10000 2 SECTM1_chr17_80291420_80293175_F 1 . -1 -1 . -1 . . . . . . . chr17 80293005 80293175 10000 3 SECTM1_chr17_80292742_80293207_F 1 . -1 -1 . -1 . . . . . . . chr17 80293005 80293264 10000 3 SECTM1_chr17_80291420_80293175_F 1 . -1 -1 . -1 . . . . . . . chr17 80304409 80304635 10000 1 ARHGDIA_chr17_79827200_79830226_S:DCXR_chr17_79994614_79995843_S 2 . -1 -1 . -1 . . . . . . . chr17 80452370 80452710 11000 3 7864_chr17_80512207_80512401_S 1 . -1 -1 . -1 . . . . . . . chr17 80483233 80483746 10000 4 ARHGDIA_chr17_79827200_79830226_S:ENSG00000245410_chr17_80198400_80200600_S:FASN_chr17_80054025_80057110_S:MAFG_chr17_79884103_79885268_S:PCYT2_chr17_79867967_79869835_S 5 . -1 -1 . -1 . . . . . . . chr17 80526400 80526644 10000 3 ARHGDIA_chr17_79827200_79830226_S:CSNK1D_chr17_80229506_80229888_S:CSNK1D_chr17_80229980_80230082_S:CSNK1D_chr17_80230464_80231969_S:DCXR_chr17_79994614_79995843_S:DUS1L_chr17_80022646_80023968_S:ENSG00000245410_chr17_80198400_80200600_S:FASN_chr17_80054025_80057110_S:GPS1_chr17_80008673_80010538_S:HEXDC_chr17_80375872_80376950_S:LRRC45_chr17_79978200_79981876_S:MAFG_chr17_79884103_79885268_S:NOTUM_chr17_79915698_79915791_S:NOTUM_chr17_79916739_79918818_S:P4HB_chr17_79817109_79818600_S:PCYT2_chr17_79867106_79867511_S:PCYT2_chr17_79867967_79869835_S:SLC16A3_chr17_80191050_80191306_S:SLC16A3_chr17_80191400_80191517_S:SLC25A10_chr17_79668488_79669130_S:SLC25A10_chr17_79669263_79671408_S:SLC25A10_chr17_79678750_79681503_S 22 . -1 -1 . -1 . . . . . . . chr17 80551061 80551189 10000 1 FOXK2_chr17_79978000_79978200_S:FOXK2_chr17_80197400_80198400_S 2 . -1 -1 . -1 . . . . . . . chr17 80656866 80656975 10101 1 RAB40B_chr17_80655375_80655626_F 1 . -1 -1 . -1 . . . . . . . chr17 80699424 80699646 10000 3 DCXR_chr17_79994614_79995843_S:LRRC45_chr17_79978200_79981876_S:NOTUM_chr17_79916739_79918818_S 3 . -1 -1 . -1 . . . . . . . chr17 80709708 80709988 10101 1 TBCD_chr17_79978000_79978200_S:TBCD_chr17_80712796_80713169_F 2 . -1 -1 . -1 . . . . . . . chr17 80794892 80795287 11101 2 ZNF750_chr17_80794045_80794420_F 1 . -1 -1 . -1 . . . . . . . chr17 80796278 80796587 11101 2 ZNF750_chr17_80794045_80794420_F:ZNF750_chr17_80796209_80796714_F:ZNF750_chr17_80796261_80798431_F 3 . -1 -1 . -1 . . . . . . . chr18 711783 712007 11010 3 ENOSF1_chr18_711356_711474_F:ENOSF1_chr18_711356_711474_F 2 . -1 -1 . -1 . . . . . . . chr18 712695 712824 11010 1 ENOSF1_chr18_711356_711474_F:ENOSF1_chr18_711356_711474_F 2 . -1 -1 . -1 . . . . . . . chr18 811826 811954 10010 1 YES1_chr18_813044_813594_F 1 . -1 -1 . -1 . . . . . . . chr18 2655751 2655861 11111 1 SMCHD1_chr18_2658254_2658560_F 1 . -1 -1 . -1 . . . . . . . chr18 2656604 2657004 10010 2 SMCHD1_chr18_2658254_2658560_F 1 . -1 -1 . -1 . . . . . . . chr18 2984882 2985289 11111 3 DLGAP1-AS1_chr18_3593684_3596218_S:LPIN2_chr18_2984759_2984800_S:LPIN2_chr18_3012496_3013648_S:MYL12B_chr18_3264473_3264673_S:TGIF1_chr18_3454791_3454946_S 5 . -1 -1 . -1 . . . . . . . chr18 3013465 3013628 11101 2 LPIN2_chr18_2984800_2985617_S 1 . -1 -1 . -1 . . . . . . . chr18 3052172 3052359 11000 4 DLGAP1-AS1_chr18_3593684_3596218_S:TGIF1_chr18_3454791_3454946_S 2 . -1 -1 . -1 . . . . . . . chr18 3264549 3264659 10001 1 MYL12B_chr18_2984800_2985617_S 1 . -1 -1 . -1 . . . . . . . chr18 3447906 3448494 11101 2 TGIF1_chr18_3446696_3446930_F:TGIF1_chr18_3446696_3446930_F:TGIF1_chr18_3446696_3446930_F 3 . -1 -1 . -1 . . . . . . . chr18 3449084 3449499 11101 3 TGIF1_chr18_3446696_3446930_F:TGIF1_chr18_3446696_3446930_F:TGIF1_chr18_3446696_3446930_F 3 . -1 -1 . -1 . . . . . . . chr18 3450224 3450340 11101 1 TGIF1_chr18_3446696_3446930_F:TGIF1_chr18_3446696_3446930_F:TGIF1_chr18_3446696_3446930_F 3 . -1 -1 . -1 . . . . . . . chr18 3594021 3594136 10000 1 DLGAP1-AS1_chr18_2984800_2985617_S:DLGAP1-AS1_chr18_3052000_3052769_S 2 . -1 -1 . -1 . . . . . . . chr18 3595626 3596090 11010 3 DLGAP1-AS1_chr18_2984800_2985617_S:DLGAP1-AS1_chr18_3052000_3052769_S 2 . -1 -1 . -1 . . . . . . . chr18 5294922 5295036 10100 1 ZFP161_chr18_5294371_5294839_F:ZFP161_chr18_5294405_5296694_F 2 . -1 -1 . -1 . . . . . . . chr18 5296060 5296177 10111 1 ZFP161_chr18_5294371_5294839_F 1 . -1 -1 . -1 . . . . . . . chr18 6414972 6415399 11000 2 L3MBTL4_chr18_6416928_6417109_F 1 . -1 -1 . -1 . . . . . . . chr18 9136449 9136809 11110 1 ANKRD12_chr18_9138526_9138911_F 1 . -1 -1 . -1 . . . . . . . chr18 9913808 9914003 11111 1 VAPA_chr18_9914998_9915501_F 1 . -1 -1 . -1 . . . . . . . chr18 11850129 11850409 10000 2 CHMP1B_chr18_11849903_11850727_F:CHMP1B_chr18_11850115_11851889_F 2 . -1 -1 . -1 . . . . . . . chr18 11851296 11851456 11101 1 CHMP1B_chr18_11849903_11850727_F 1 . -1 -1 . -1 . . . . . . . chr18 19749335 19749579 11010 2 GATA6_chr18_19746222_19746392_F 1 . -1 -1 . -1 . . . . . . . chr18 21166740 21166914 11010 1 NPC1_chr18_21165246_21165762_F 1 . -1 -1 . -1 . . . . . . . chr18 21977045 21977244 11100 1 OSBPL1A_chr18_21975077_21975273_F 1 . -1 -1 . -1 . . . . . . . chr18 21977834 21978210 11100 2 OSBPL1A_chr18_21975077_21975273_F 1 . -1 -1 . -1 . . . . . . . chr18 25757130 25757271 11111 1 CDH2_chr18_25754926_25755429_F 1 . -1 -1 . -1 . . . . . . . chr18 29598178 29598435 10100 1 RNF125_chr18_29599439_29599921_F 1 . -1 -1 . -1 . . . . . . . chr18 29599361 29599641 11110 3 RNF125_chr18_29597944_29599881_F:RNF125_chr18_29599439_29599921_F 2 . -1 -1 . -1 . . . . . . . chr18 32558245 32558438 10000 1 MAPRE2_chr18_32558962_32559433_F 1 . -1 -1 . -1 . . . . . . . chr18 32559041 32559398 10000 3 MAPRE2_chr18_32558962_32559433_F 1 . -1 -1 . -1 . . . . . . . chr18 32559041 32559450 10000 3 MAPRE2_chr18_32557707_32559398_F 1 . -1 -1 . -1 . . . . . . . chr18 32924418 32924775 11010 2 ZNF24_chr18_32925283_32925658_F 1 . -1 -1 . -1 . . . . . . . chr18 32925391 32925575 10000 2 ZNF24_chr18_32923925_32925671_F:ZNF24_chr18_32925283_32925658_F 2 . -1 -1 . -1 . . . . . . . chr18 42260378 42260657 11000 1 SETBP1_chr18_42262294_42262512_F:SETBP1_chr18_42262294_42262512_F 2 . -1 -1 . -1 . . . . . . . chr18 42261013 42261463 11010 2 SETBP1_chr18_42262294_42262512_F:SETBP1_chr18_42262294_42262512_F 2 . -1 -1 . -1 . . . . . . . chr18 43547247 43547541 11111 1 EPG5_chr18_43543003_43543287_F 1 . -1 -1 . -1 . . . . . . . chr18 46065291 46065820 11111 2 CTIF_chr18_46066779_46067121_F 1 . -1 -1 . -1 . . . . . . . chr18 46066985 46067151 11101 2 CTIF_chr18_46066779_46067121_F 1 . -1 -1 . -1 . . . . . . . chr18 46066985 46067205 11101 2 CTIF_chr18_46064926_46067151_F 1 . -1 -1 . -1 . . . . . . . chr18 46468990 46469291 11110 3 SMAD7_chr18_46465508_46465942_F 1 . -1 -1 . -1 . . . . . . . chr18 46478548 46478689 11101 2 SMAD7_chr18_46475202_46478919_F:SMAD7_chr18_46476580_46478919_F:SMAD7_chr18_46478230_46479206_F:SMAD7_chr18_46478230_46479206_F 4 . -1 -1 . -1 . . . . . . . chr18 48721418 48721668 10000 3 MEX3C_chr18_48721702_48724551_F 1 . -1 -1 . -1 . . . . . . . chr18 48724188 48724551 11100 2 MEX3C_chr18_48721492_48722312_F 1 . -1 -1 . -1 . . . . . . . chr18 55102469 55102507 11100 1 ONECUT2_chr18_55101911_55103417_F 1 . -1 -1 . -1 . . . . . . . chr18 55102469 55102642 11100 1 ONECUT2_chr18_55102016_55102207_F:ONECUT2_chr18_55105190_55105288_F 2 . -1 -1 . -1 . . . . . . . chr18 55112741 55112979 11111 3 NEDD4L_chr18_55710814_55712626_S:NEDD4L_chr18_55714621_55714758_S 2 . -1 -1 . -1 . . . . . . . chr18 55113161 55113551 11111 3 NEDD4L_chr18_55710814_55712626_S:NEDD4L_chr18_55714621_55714758_S 2 . -1 -1 . -1 . . . . . . . chr18 55253843 55254028 11101 1 FECH_chr18_55250571_55250884_F:FECH_chr18_55255652_55255824_F 2 . -1 -1 . -1 . . . . . . . chr18 55710760 55710982 11000 1 NEDD4L_chr18_55710632_55714958_F:NEDD4L_chr18_55710685_55710979_F 2 . -1 -1 . -1 . . . . . . . chr18 55710814 55710982 11000 1 NEDD4L_chr18_55112542_55113780_S:NEDD4L_chr18_56065775_56068173_S:NEDD4L_chr18_56074094_56078380_S 3 . -1 -1 . -1 . . . . . . . chr18 55712221 55712335 10000 1 NEDD4L_chr18_55112542_55113780_S:NEDD4L_chr18_55710685_55710979_F:NEDD4L_chr18_56065775_56068173_S:NEDD4L_chr18_56074094_56078380_S 4 . -1 -1 . -1 . . . . . . . chr18 55712638 55712746 10000 1 NEDD4L_chr18_55710685_55710979_F 1 . -1 -1 . -1 . . . . . . . chr18 55713712 55713982 10000 1 NEDD4L_chr18_55710685_55710979_F 1 . -1 -1 . -1 . . . . . . . chr18 55890970 55891501 11111 3 NEDD4L_chr18_55890970_55891630_F 1 . -1 -1 . -1 . . . . . . . chr18 55890970 55891706 11111 3 NEDD4L_chr18_55888253_55891501_F 1 . -1 -1 . -1 . . . . . . . chr18 56066310 56066514 10000 2 NEDD4L_chr18_55710814_55712626_S 1 . -1 -1 . -1 . . . . . . . chr18 56067292 56067437 11100 1 NEDD4L_chr18_55710814_55712626_S 1 . -1 -1 . -1 . . . . . . . chr18 56074678 56075670 11111 4 NEDD4L_chr18_55710814_55712626_S 1 . -1 -1 . -1 . . . . . . . chr18 56075970 56076286 11010 2 NEDD4L_chr18_55710814_55712626_S 1 . -1 -1 . -1 . . . . . . . chr18 56081013 56081938 11111 4 NEDD4L_chr18_55888618_55888935_S 1 . -1 -1 . -1 . . . . . . . chr18 56337072 56337228 11000 2 MALT1_chr18_56337265_56339118_F 1 . -1 -1 . -1 . . . . . . . chr18 56530823 56530955 10000 1 ZNF532_chr18_56533618_56533625_F 1 . -1 -1 . -1 . . . . . . . chr18 60119488 60120058 11011 4 PHLPP1_chr18_60381951_60383071_S 1 . -1 -1 . -1 . . . . . . . chr18 60189354 60189496 10100 1 ZCCHC2_chr18_60189166_60191158_F:ZCCHC2_chr18_60189219_60189514_F 2 . -1 -1 . -1 . . . . . . . chr18 60189960 60190339 11111 1 ZCCHC2_chr18_60189219_60189514_F 1 . -1 -1 . -1 . . . . . . . chr18 60190157 60190339 11111 1 ZCCHC2_chr18_60193382_60194139_F 1 . -1 -1 . -1 . . . . . . . chr18 60192816 60192921 11000 1 ZCCHC2_chr18_60193382_60194139_F 1 . -1 -1 . -1 . . . . . . . chr18 60193322 60193513 11111 1 ZCCHC2_chr18_60190157_60193961_F:ZCCHC2_chr18_60193382_60194139_F 2 . -1 -1 . -1 . . . . . . . chr18 60194004 60194242 11111 1 ZCCHC2_chr18_60190157_60193961_F 1 . -1 -1 . -1 . . . . . . . chr18 60382250 60382575 11111 2 PHLPP1_chr18_60119400_60120211_S 1 . -1 -1 . -1 . . . . . . . chr18 60986511 60986661 10101 1 BCL2_chr18_60984165_60984609_F 1 . -1 -1 . -1 . . . . . . . chr18 72919427 72919533 10111 1 ZADH2_chr18_72919533_72921781_F 1 . -1 -1 . -1 . . . . . . . chr18 72921673 72921781 10111 1 ZADH2_chr18_72919537_72919929_F:ZADH2_chr18_72919988_72920296_F 2 . -1 -1 . -1 . . . . . . . chr18 72921673 72921813 10111 1 TSHZ1_chr18_72919988_72920296_F 1 . -1 -1 . -1 . . . . . . . chr18 72922669 72922809 10101 1 TSHZ1_chr18_72919988_72920296_F 1 . -1 -1 . -1 . . . . . . . chr18 74843447 74843559 10000 1 MBP_chr18_74840794_74841428_F:MBP_chr18_74841905_74842663_F 2 . -1 -1 . -1 . . . . . . . chr18 74844037 74844193 10000 1 MBP_chr18_74840794_74841428_F:MBP_chr18_74841905_74842663_F 2 . -1 -1 . -1 . . . . . . . chr18 74844749 74844883 10000 1 MBP_chr18_74840794_74841428_F:MBP_chr18_74841905_74842663_F 2 . -1 -1 . -1 . . . . . . . chr18 76828982 76829371 11111 1 ATP9B_chr18_76828001_76828378_F:ATP9B_chr18_76831132_76831674_F 2 . -1 -1 . -1 . . . . . . . chr18 77154800 77154804 10000 1 NFATC1_chr18_77153875_77156272_F 1 . -1 -1 . -1 . . . . . . . chr18 77154800 77155011 10000 1 NFATC1_chr18_77153646_77154504_F 1 . -1 -1 . -1 . . . . . . . chr18 77439345 77439840 11111 2 CTDP1_chr18_77442917_77443176_F 1 . -1 -1 . -1 . . . . . . . chr18 77694676 77694734 11011 3 ADNP2_chr18_77866619_77867854_S:HSBP1L1_chr18_77724287_77725533_S:RBFA_chr18_77793290_77794869_S:TXNL4A_chr18_77748022_77749109_S 4 . -1 -1 . -1 . . . . . . . chr18 77694826 77695058 11011 3 ADNP2_chr18_77866619_77867854_S 1 . -1 -1 . -1 . . . . . . . chr18 77748574 77748692 11000 1 TXNL4A_chr18_77693724_77694734_S 1 . -1 -1 . -1 . . . . . . . chr18 77793578 77793724 10000 1 RBFA_chr18_77693724_77694734_S 1 . -1 -1 . -1 . . . . . . . chr18 77793919 77794806 11000 3 RBFA_chr18_77693724_77694734_S 1 . -1 -1 . -1 . . . . . . . chr19 459945 460124 10000 1 SHC2_chr19_934800_935400_S 1 . -1 -1 . -1 . . . . . . . chr19 572358 572513 11101 1 BSG_chr19_573434_573573_F 1 . -1 -1 . -1 . . . . . . . chr19 660969 661121 00000 2 RNF126_chr19_660357_663733_F 1 . -1 -1 . -1 . . . . . . . chr19 660969 661601 00000 2 RNF126_chr19_660293_660821_F:RNF126_chr19_934800_935400_S 2 . -1 -1 . -1 . . . . . . . chr19 661110 661601 00000 2 RNF126_chr19_661372_663733_F 1 . -1 -1 . -1 . . . . . . . chr19 661372 661601 00000 2 RNF126_chr19_661410_661735_F 1 . -1 -1 . -1 . . . . . . . chr19 663205 663339 00000 1 RNF126_chr19_660293_660821_F:RNF126_chr19_661410_661735_F:RNF126_chr19_662216_662510_F:RNF126_chr19_934800_935400_S 4 . -1 -1 . -1 . . . . . . . chr19 796926 797220 00000 1 PTBP1_chr19_1415001_1415800_S:PTBP1_chr19_934800_935400_S 2 . -1 -1 . -1 . . . . . . . chr19 797751 798087 00000 1 PTBP1_chr19_1415001_1415800_S:PTBP1_chr19_934800_935400_S 2 . -1 -1 . -1 . . . . . . . chr19 927039 927224 10010 1 ARID3A_chr19_928103_928378_F 1 . -1 -1 . -1 . . . . . . . chr19 934885 935198 10010 2 ADAT3_chr19_1907577_1908050_S:CDC34_chr19_532415_533392_S:CIRBP_chr19_1268994_1270369_S:CIRBP_chr19_1270593_1270685_S:CIRBP_chr19_1270937_1271179_S:CNN2_chr19_1020845_1021875_S:ENSG00000226593_chr19_1275193_1276222_S:MIDN_chr19_1248123_1250157_S:POLR2E_chr19_1095020_1095618_S:PTBP1_chr19_796684_799588_S:REXO1_chr19_1847538_1848995_S:RNF126_chr19_660655_663771_S:RPS15_chr19_1437975_1438978_S:SHC2_chr19_459757_460455_S 14 . -1 -1 . -1 . . . . . . . chr19 1021758 1021875 10101 1 CNN2_chr19_1415001_1415800_S:CNN2_chr19_934800_935400_S 2 . -1 -1 . -1 . . . . . . . chr19 1095417 1095582 10100 2 POLR2E_chr19_1415001_1415800_S:POLR2E_chr19_934800_935400_S 2 . -1 -1 . -1 . . . . . . . chr19 1174261 1174374 10101 1 SBNO2_chr19_1175432_1175562_F 1 . -1 -1 . -1 . . . . . . . chr19 1248555 1249020 10111 1 MIDN_chr19_1415001_1415800_S:MIDN_chr19_1424395_1424932_S:MIDN_chr19_2242200_2242600_S:MIDN_chr19_934800_935400_S 4 . -1 -1 . -1 . . . . . . . chr19 1249262 1249522 10101 1 MIDN_chr19_1415001_1415800_S:MIDN_chr19_1424395_1424932_S:MIDN_chr19_2242200_2242600_S:MIDN_chr19_934800_935400_S 4 . -1 -1 . -1 . . . . . . . chr19 1265510 1265581 10000 1 CIRBP_chr19_1265737_1269767_F 1 . -1 -1 . -1 . . . . . . . chr19 1269086 1269767 10010 2 CIRBP_chr19_1265810_1266064_F 1 . -1 -1 . -1 . . . . . . . chr19 1269086 1269800 10010 2 CIRBP_chr19_1415001_1415800_S:CIRBP_chr19_2242200_2242600_S:CIRBP_chr19_934800_935400_S 3 . -1 -1 . -1 . . . . . . . chr19 1275388 1275498 10000 1 ENSG00000226593_chr19_1415001_1415800_S:ENSG00000226593_chr19_1424000_1424303_S:ENSG00000226593_chr19_1424395_1424932_S:ENSG00000226593_chr19_2242200_2242600_S:ENSG00000226593_chr19_934800_935400_S 5 . -1 -1 . -1 . . . . . . . chr19 1275801 1276010 10000 1 ENSG00000226593_chr19_1415001_1415800_S:ENSG00000226593_chr19_1424000_1424303_S:ENSG00000226593_chr19_1424395_1424932_S:ENSG00000226593_chr19_2242200_2242600_S:ENSG00000226593_chr19_934800_935400_S 5 . -1 -1 . -1 . . . . . . . chr19 1284677 1284992 10000 2 EFNA2_chr19_1284432_1284856_F:EFNA2_chr19_1284444_1286653_F 2 . -1 -1 . -1 . . . . . . . chr19 1415598 1415748 10000 1 CDC34_chr19_532415_533392_S:CIRBP_chr19_1268994_1270369_S:CIRBP_chr19_1270593_1270685_S:CIRBP_chr19_1270937_1271179_S:CNN2_chr19_1020845_1021875_S:ENSG00000226593_chr19_1274770_1274966_S:ENSG00000226593_chr19_1275193_1276222_S:MIDN_chr19_1248123_1250157_S:OAZ1_chr19_2269047_2270063_S:PLEKHJ1_chr19_2236084_2237302_S:POLR2E_chr19_1095020_1095618_S:PTBP1_chr19_796684_799588_S:REXO1_chr19_1847538_1848995_S:RPS15_chr19_1437975_1438978_S 14 . -1 -1 . -1 . . . . . . . chr19 1424395 1424592 10000 1 ENSG00000226593_chr19_1275193_1276222_S:MIDN_chr19_1248123_1250157_S:PLEKHJ1_chr19_2236084_2237302_S:RPS15_chr19_1437975_1438978_S 4 . -1 -1 . -1 . . . . . . . chr19 1438106 1438418 11000 1 RPS15_chr19_1415001_1415800_S:RPS15_chr19_1424000_1424303_S:RPS15_chr19_1424395_1424932_S:RPS15_chr19_2242200_2242600_S:RPS15_chr19_934800_935400_S 5 . -1 -1 . -1 . . . . . . . chr19 1940762 1940928 10101 1 CSNK1G2_chr19_1942393_1942508_F:CSNK1G2_chr19_1942586_1943099_F:CSNK1G2_chr19_1943207_1943298_F 3 . -1 -1 . -1 . . . . . . . chr19 2049741 2050185 10111 3 MKNK2_chr19_2049892_2051743_F 1 . -1 -1 . -1 . . . . . . . chr19 2049892 2050185 10111 3 MKNK2_chr19_2049976_2050209_F 1 . -1 -1 . -1 . . . . . . . chr19 2163678 2163807 10101 1 DOT1L_chr19_2162744_2162943_F:DOT1L_chr19_2165096_2165788_F:DOT1L_chr19_2167436_2167667_F 3 . -1 -1 . -1 . . . . . . . chr19 2166897 2167127 10000 2 DOT1L_chr19_2167436_2167667_F 1 . -1 -1 . -1 . . . . . . . chr19 2167342 2167572 10101 2 DOT1L_chr19_2163647_2167752_F:DOT1L_chr19_2167436_2167667_F 2 . -1 -1 . -1 . . . . . . . chr19 2236262 2236427 11101 1 PLEKHJ1_chr19_1415001_1415800_S:PLEKHJ1_chr19_1424000_1424303_S:PLEKHJ1_chr19_1424395_1424932_S:PLEKHJ1_chr19_1469595_1471591_S:PLEKHJ1_chr19_2242200_2242600_S:PLEKHJ1_chr19_2575842_2577626_S:PLEKHJ1_chr19_2951305_2951400_S 7 . -1 -1 . -1 . . . . . . . chr19 2236627 2237010 11101 2 PLEKHJ1_chr19_1415001_1415800_S:PLEKHJ1_chr19_1424000_1424303_S:PLEKHJ1_chr19_1424395_1424932_S:PLEKHJ1_chr19_1469595_1471591_S:PLEKHJ1_chr19_2242200_2242600_S:PLEKHJ1_chr19_2575842_2577626_S:PLEKHJ1_chr19_2951305_2951400_S 7 . -1 -1 . -1 . . . . . . . chr19 2242200 2242412 11000 1 CIRBP_chr19_1268994_1270369_S:CIRBP_chr19_1270593_1270685_S:CIRBP_chr19_1270937_1271179_S:ENSG00000226593_chr19_1274770_1274966_S:ENSG00000226593_chr19_1275193_1276222_S:GADD45B_chr19_2475733_2476875_S:MIDN_chr19_1248123_1250157_S:PLEKHJ1_chr19_2236084_2237302_S:RPS15_chr19_1437975_1438978_S:TIMM13_chr19_2426633_2428400_S 10 . -1 -1 . -1 . . . . . . . chr19 2269564 2269685 10110 1 OAZ1_chr19_1415001_1415800_S 1 . -1 -1 . -1 . . . . . . . chr19 2328498 2328744 10010 1 SPPL2B_chr19_2332363_2332647_F 1 . -1 -1 . -1 . . . . . . . chr19 2330708 2331023 10010 2 SPPL2B_chr19_2332363_2332647_F 1 . -1 -1 . -1 . . . . . . . chr19 2427569 2428110 10101 3 TIMM13_chr19_2242200_2242600_S:TIMM13_chr19_2575842_2577626_S 2 . -1 -1 . -1 . . . . . . . chr19 2475878 2476473 11110 2 GADD45B_chr19_2242200_2242600_S:GADD45B_chr19_2478921_2479315_F:GADD45B_chr19_2575842_2577626_S 3 . -1 -1 . -1 . . . . . . . chr19 2478442 2479263 11010 3 GADD45B_chr19_2478921_2479315_F 1 . -1 -1 . -1 . . . . . . . chr19 2478621 2479263 11010 3 GADD45B_chr19_2475622_2479319_F 1 . -1 -1 . -1 . . . . . . . chr19 2576076 2576507 11010 4 GADD45B_chr19_2475733_2476875_S:PLEKHJ1_chr19_2236084_2237302_S:REXO1_chr19_1847538_1848995_S:TIMM13_chr19_2426633_2428400_S 4 . -1 -1 . -1 . . . . . . . chr19 2576981 2577289 11000 3 GADD45B_chr19_2475733_2476875_S:PLEKHJ1_chr19_2236084_2237302_S:REXO1_chr19_1847538_1848995_S:TIMM13_chr19_2426633_2428400_S 4 . -1 -1 . -1 . . . . . . . chr19 3360647 3360656 10000 1 NFIC_chr19_3359060_3360470_F 1 . -1 -1 . -1 . . . . . . . chr19 3366156 3366304 10000 1 NFIC_chr19_3367171_3367852_F 1 . -1 -1 . -1 . . . . . . . chr19 3367479 3367708 10010 2 NFIC_chr19_3366064_3367712_F:NFIC_chr19_3367171_3367852_F 2 . -1 -1 . -1 . . . . . . . chr19 3500884 3501082 10101 1 DOHH_chr19_3503082_3503292_F:DOHH_chr19_3503082_3503292_F 2 . -1 -1 . -1 . . . . . . . chr19 3505505 3505637 10000 1 FZR1_chr19_3503082_3503292_F 1 . -1 -1 . -1 . . . . . . . chr19 3505973 3506254 10101 2 FZR1_chr19_3503082_3503292_F 1 . -1 -1 . -1 . . . . . . . chr19 3606326 3606503 10000 1 TBXA2R_chr19_3603116_3603307_F 1 . -1 -1 . -1 . . . . . . . chr19 3968666 3968883 11000 1 EEF2_chr19_3983280_3983554_S:EEF2_chr19_3984092_3984449_S:EEF2_chr19_3984681_3985654_S:FEM1A_chr19_4791439_4792594_S 4 . -1 -1 . -1 . . . . . . . chr19 3984092 3984299 11101 2 EEF2_chr19_3968463_3969200_S 1 . -1 -1 . -1 . . . . . . . chr19 3984863 3985107 11101 1 EEF2_chr19_3968463_3969200_S 1 . -1 -1 . -1 . . . . . . . chr19 4639345 4639467 10100 1 TNFAIP8L1_chr19_4636294_4636441_F:TNFAIP8L1_chr19_4636294_4636441_F 2 . -1 -1 . -1 . . . . . . . chr19 4639653 4640027 10110 1 TNFAIP8L1_chr19_4636294_4636441_F 1 . -1 -1 . -1 . . . . . . . chr19 4639653 4640061 10110 1 TNFAIP8L1_chr19_4636294_4636441_F 1 . -1 -1 . -1 . . . . . . . chr19 4791439 4791492 11101 2 FEM1A_chr19_3968463_3969200_S 1 . -1 -1 . -1 . . . . . . . chr19 5622519 5623443 11110 3 SAFB2_chr19_5624052_5624252_F 1 . -1 -1 . -1 . . . . . . . chr19 5622545 5623443 11110 3 SAFB_chr19_5624052_5624252_F 1 . -1 -1 . -1 . . . . . . . chr19 5624261 5624353 11000 1 SAFB2_chr19_5624052_5624252_F:SAFB_chr19_5624052_5624252_F 2 . -1 -1 . -1 . . . . . . . chr19 5624261 5624430 11000 1 SAFB2_chr19_5622437_5624353_F:SAFB_chr19_5622545_5624353_F 2 . -1 -1 . -1 . . . . . . . chr19 6670000 6670505 10000 2 TNFSF14_chr19_6668609_6668941_F 1 . -1 -1 . -1 . . . . . . . chr19 6670911 6671099 10000 1 TNFSF14_chr19_6668609_6668941_F 1 . -1 -1 . -1 . . . . . . . chr19 7587220 7587549 10000 3 MCOLN1_chr19_7588336_7588755_F 1 . -1 -1 . -1 . . . . . . . chr19 7587886 7588078 10000 1 MCOLN1_chr19_7588336_7588755_F 1 . -1 -1 . -1 . . . . . . . chr19 7588036 7588078 10000 1 MCOLN1_chr19_7586995_7588746_F 1 . -1 -1 . -1 . . . . . . . chr19 7739418 7739607 10000 1 C19orf59_chr19_7739205_7742443_F:C19orf59_chr19_7739294_7739517_F 2 . -1 -1 . -1 . . . . . . . chr19 8305300 8305489 10010 3 ENSG00000167774_chr19_8385489_8387153_S 1 . -1 -1 . -1 . . . . . . . chr19 8386217 8386352 11000 1 ENSG00000167774_chr19_8304939_8306116_S 1 . -1 -1 . -1 . . . . . . . chr19 8426731 8427144 11111 3 ANGPTL4_chr19_8426833_8429511_F 1 . -1 -1 . -1 . . . . . . . chr19 8426833 8427144 11111 3 ANGPTL4_chr19_8426850_8427217_F 1 . -1 -1 . -1 . . . . . . . chr19 8427429 8427517 10000 1 ANGPTL4_chr19_8426833_8429511_F 1 . -1 -1 . -1 . . . . . . . chr19 8427429 8427609 10000 1 ANGPTL4_chr19_8426850_8427217_F 1 . -1 -1 . -1 . . . . . . . chr19 8428978 8429094 10101 1 ANGPTL4_chr19_8426850_8427217_F 1 . -1 -1 . -1 . . . . . . . chr19 10676699 10676856 10100 2 KRI1_chr19_10678483_10678588_F 1 . -1 -1 . -1 . . . . . . . chr19 10828228 10828793 10000 3 DNM2_chr19_10829647_10829946_F 1 . -1 -1 . -1 . . . . . . . chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11199957 11199958 CR034701 + 3 FP rs17249134 LDLR Altered transcription AATACAACAAATCAAGTCGCCTGCCCTGGC[G/T]ACACTTTCGAAGGACTGGAGTGGGAATCAG 12944120 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11199958 11199959 CR108072 + 3 DM NULL LDLR Hypercholesterolaemia ATACAACAAATCAAGTCGCCTGCCCTGGCG[A/G]CACTTTCGAAGGACTGGAGTGGGAATCAGA 20809525 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11199998 11199999 CR1312418 + 3 DM? NULL LDLR Hypercholesterolaemia AGGACTGGAGTGGGAATCAGAGCTTCACGG[G/T]TTAAAAAGCCGATGTCACATCGGCCGTTCG 23680767 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200008 11200009 CR994775 + 3 FP rs17249141 LDLR Altered transcription TGGGAATCAGAGCTTCACGGGTTAAAAAGC[C/T]GATGTCACATCGGCCGTTCGAAACTCCTCC 10484771 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200010 11200011 CR127546 + 3 DM? NULL LDLR Hypercholesterolaemia GGAATCAGAGCTTCACGGGTTAAAAAGCCG[A/G]TGTCACATCGGCCGTTCGAAACTCCTCCTC 22881376 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200019 11200020 CR025999 + 3 DM NULL LDLR Hypercholesterolaemia GCTTCACGGGTTAAAAAGCCGATGTCACAT[C/T]GGCCGTTCGAAACTCCTCCTCTTGCAGTGA 12052488 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200037 11200038 CR055624 + 3 DM NULL LDLR Hypercholesterolaemia CCGATGTCACATCGGCCGTTCGAAACTCCT[C/T]CTCTTGCAGTGAGGTGAAGACATTTGAAAA 16250003 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200064 11200065 CR045713 + 3 DM NULL LDLR Hypercholesterolaemia CCTCCTCTTGCAGTGAGGTGAAGACATTTG[A/C]AAATCACCCCACTGCAAACTCCTCCCCCTG 15556094 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200069 11200070 CR045714 + 3 DM NULL LDLR Hypercholesterolaemia TCTTGCAGTGAGGTGAAGACATTTGAAAAT[C/T]ACCCCACTGCAAACTCCTCCCCCTGCTAGA 14974088 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200072 11200073 CR042574 + 3 DM NULL LDLR Hypercholesterolaemia TGCAGTGAGGTGAAGACATTTGAAAATCAC[C/T]CCACTGCAAACTCCTCCCCCTGCTAGAAAC 15303010 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200073 11200074 CR992256 + 3 DM NULL LDLR Hypercholesterolaemia GCAGTGAGGTGAAGACATTTGAAAATCACC[C/T]CACTGCAAACTCCTCCCCCTGCTAGAAACC 10484771 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200076 11200077 CR127029 + 3 DM NULL LDLR Hypercholesterolaemia GTGAGGTGAAGACATTTGAAAATCACCCCA[C/A]TGCAAACTCCTCCCCCTGCTAGAAACCTCA 22698793 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200079 11200080 CR973644 + 3 DM NULL LDLR Hypercholesterolaemia AGGTGAAGACATTTGAAAATCACCCCACTG[C/A]AAACTCCTCCCCCTGCTAGAAACCTCACAT 9259195 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200083 11200084 CR021774 + 3 DM NULL LDLR Hypercholesterolaemia GAAGACATTTGAAAATCACCCCACTGCAAA[C/T]TCCTCCCCCTGCTAGAAACCTCACATTGAA 11792717 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200085 11200086 CR094983 + 3 DM NULL LDLR Hypercholesterolaemia AGACATTTGAAAATCACCCCACTGCAAACT[C/G]CTCCCCCTGCTAGAAACCTCACATTGAAAT 19318025 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200085 11200086 CR108071 + 3 DM NULL LDLR Hypercholesterolaemia AGACATTTGAAAATCACCCCACTGCAAACT[C/T]CTCCCCCTGCTAGAAACCTCACATTGAAAT 20809525 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200086 11200087 CR055626 + 3 DM NULL LDLR Hypercholesterolaemia GACATTTGAAAATCACCCCACTGCAAACTC[C/A]TCCCCCTGCTAGAAACCTCACATTGAAATG 16250003 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200086 11200087 CR075255 + 3 DM NULL LDLR Hypercholesterolaemia GACATTTGAAAATCACCCCACTGCAAACTC[C/G]TCCCCCTGCTAGAAACCTCACATTGAAATG 17625505 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200087 11200088 CR951555 + 3 DM NULL LDLR Hypercholesterolaemia ACATTTGAAAATCACCCCACTGCAAACTCC[T/C]CCCCCTGCTAGAAACCTCACATTGAAATGC 8589690 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200088 11200089 CR920795 + 3 DM NULL LDLR Hypercholesterolaemia CATTTGAAAATCACCCCACTGCAAACTCCT[C/T]CCCCTGCTAGAAACCTCACATTGAAATGCT 1301956 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200089 11200090 CR116859 + 3 DM NULL LDLR Hypercholesterolaemia ATTTGAAAATCACCCCACTGCAAACTCCTC[C/G]CCCTGCTAGAAACCTCACATTGAAATGCTG 21538688 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200089 11200090 CR941557 + 3 DM NULL LDLR Hypercholesterolaemia ATTTGAAAATCACCCCACTGCAAACTCCTC[C/T]CCCTGCTAGAAACCTCACATTGAAATGCTG 7937987 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200090 11200091 CR920794 + 3 DM NULL LDLR Hypercholesterolaemia TTTGAAAATCACCCCACTGCAAACTCCTCC[C/G]CCTGCTAGAAACCTCACATTGAAATGCTGT 1301956 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200091 11200092 CR091488 + 3 DM NULL LDLR Hypercholesterolaemia TTGAAAATCACCCCACTGCAAACTCCTCCC[C/T]CTGCTAGAAACCTCACATTGAAATGCTGTA 18718593 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200104 11200105 CR0910348 + 3 DM? NULL LDLR Hypercholesterolaemia CACTGCAAACTCCTCCCCCTGCTAGAAACC[T/C]CACATTGAAATGCTGTAAATGACGTGGGCC 20236128 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200105 11200106 CR042573 + 3 DM NULL LDLR Hypercholesterolaemia ACTGCAAACTCCTCCCCCTGCTAGAAACCT[C/T]ACATTGAAATGCTGTAAATGACGTGGGCCC 15303010 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200202 11200203 CR042572 + 3 DM NULL LDLR Hypercholesterolaemia GACACAGCAGGTCGTGATCCGGGTCGGGAC[A/C]CTGCCTGGCAGAGGCTGCGAGCATGGGGCC 15241806 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200211 11200212 CR971948 + 3 DM NULL LDLR Hypercholesterolaemia GGTCGTGATCCGGGTCGGGACACTGCCTGG[C/A]AGAGGCTGCGAGCATGGGGCCCTGGGGCTG 9259195 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200212 11200213 CR106756 + 3 DM rs376011618 LDLR Hypercholesterolaemia GTCGTGATCCGGGTCGGGACACTGCCTGGC[A/G]GAGGCTGCGAGCATGGGGCCCTGGGGCTGG 20828696 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200220 11200221 CR055625 + 3 DM NULL LDLR Hypercholesterolaemia CCGGGTCGGGACACTGCCTGGCAGAGGCTG[C/T]GAGCATGGGGCCCTGGGGCTGGAAATTGCG 16250003 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200225 11200226 CM960929 + 1 DM NULL LDLR Hypercholesterolaemia tcgggacactgcctggcagaggctgcgagc[A/T]TGGGGCCCTGGGGCTGGAAATTGCGCTGGA 8831933 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200225 11200226 CM970875 + 1 DM NULL LDLR Hypercholesterolaemia tcgggacactgcctggcagaggctgcgagc[A/G]TGGGGCCCTGGGGCTGGAAATTGCGCTGGA 9237510 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200225 11200226 CM973628 + 1 DM NULL LDLR Hypercholesterolaemia tcgggacactgcctggcagaggctgcgagc[A/C]TGGGGCCCTGGGGCTGGAAATTGCGCTGGA 11600564 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200228 11200229 CM020733 + 1 DM rs5931 LDLR Hypercholesterolaemia ggacactgcctggcagaggctgcgagcATG[G/C]GGCCCTGGGGCTGGAAATTGCGCTGGACCG 11933210 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200228 11200229 CM057550 + 1 DM NULL LDLR Hypercholesterolaemia ggacactgcctggcagaggctgcgagcATG[G/A]GGCCCTGGGGCTGGAAATTGCGCTGGACCG 16250003 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200230 11200231 CD973295 + 5 DM NULL LDLR Hypercholesterolaemia ACACTGCCTGGCAGAGGCTGCGAGCATGGG[G/-]CCCTGGGGCTGGAAATTGCGCTGGACCGTC 9259195 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200233 11200234 CD920879 + 5 DM NULL LDLR Hypercholesterolaemia CTGCCTGGCAGAGGCTGCGAGCATGGGGCC[C/-]TGGGGCTGGAAATTGCGCTGGACCGTCGCC 1301956 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200235 11200236 CM014583 + 1 DM rs201016593 LDLR Hypercholesterolaemia gcctggcagaggctgcgagcATGGGGCCCT[G/A]GGGCTGGAAATTGCGCTGGACCGTCGCCTT 1301956 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200236 11200237 CM941040 + 1 DM NULL LDLR Hypercholesterolaemia cctggcagaggctgcgagcATGGGGCCCTG[G/A]GGCTGGAAATTGCGCTGGACCGTCGCCTTG 7903864 chr19 11199537 11200245 11010 4 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 chr19 11200244 11200245 CD091489 + 5 DM NULL LDLR Hypercholesterolaemia AGGCTGCGAGCATGGGGCCCTGGGGCTGGA[AA/-]TTGCGCTGGACCGTCGCCTTGCTCCTCGCC 18718593 chr19 11201146 11201303 10000 1 LDLR_chr19_11202212_11202837_F:LDLR_chr19_11202963_11203178_F 2 . -1 -1 . -1 . . . . . . . chr19 11202981 11203137 10000 4 LDLR_chr19_11199537_11202725_F 1 . -1 -1 . -1 . . . . . . . chr19 11202981 11203271 10000 4 LDLR_chr19_11202963_11203178_F 1 . -1 -1 . -1 . . . . . . . chr19 11202981 11203478 10000 4 LDLR_chr19_11199537_11203271_F 1 . -1 -1 . -1 . . . . . . . chr19 12404610 12405004 10000 2 ZNF44_chr19_12404540_12406214_F:ZNF44_chr19_12404552_12404928_F 2 . -1 -1 . -1 . . . . . . . chr19 12405578 12405926 11000 1 ZNF44_chr19_12404552_12404928_F 1 . -1 -1 . -1 . . . . . . . chr19 12992140 12992436 11100 2 DNASE2_chr19_12994554_12994766_F 1 chr19 12992336 12992337 CR004774 - 3 FP NULL DNASE2 Reduced promoter activity CTCCAAAACGCAGCATCGCGTCTCGGGGGA[G/A]GAGTCTGTACCCTCGTGATGTCCCCGCCCC 10675544 chr19 12994218 12994679 11000 1 DNASE2_chr19_12994554_12994766_F 1 . -1 -1 . -1 . . . . . . . chr19 12994254 12994679 11000 1 DNASE2_chr19_12991834_12994861_F:KLF1_chr19_12994460_12998517_F 2 . -1 -1 . -1 . . . . . . . chr19 12994460 12994679 11000 1 KLF1_chr19_12994554_12994766_F 1 . -1 -1 . -1 . . . . . . . chr19 14115720 14116240 00000 2 RFX1_chr19_14115648_14116111_F:RFX1_chr19_14115679_14117634_F 2 . -1 -1 . -1 . . . . . . . chr19 14117060 14117305 11000 1 RFX1_chr19_14115648_14116111_F 1 . -1 -1 . -1 . . . . . . . chr19 14530213 14530388 11110 1 DDX39A_chr19_14528800_14529217_F 1 . -1 -1 . -1 . . . . . . . chr19 14628839 14628951 00000 1 DNAJB1_chr19_14632915_14633462_F 1 . -1 -1 . -1 . . . . . . . chr19 14629395 14629640 00000 1 DNAJB1_chr19_14632915_14633462_F 1 . -1 -1 . -1 . . . . . . . chr19 14630775 14630896 00000 1 DNAJB1_chr19_14632915_14633462_F 1 . -1 -1 . -1 . . . . . . . chr19 15575607 15575742 11000 2 RASAL3_chr19_15577896_15578094_F 1 . -1 -1 . -1 . . . . . . . chr19 15751230 15752229 11000 3 CYP4F3_chr19_15752781_15753122_F 1 . -1 -1 . -1 . . . . . . . chr19 15752864 15753133 11000 2 CYP4F3_chr19_15751206_15753152_F:CYP4F3_chr19_15752781_15753122_F 2 . -1 -1 . -1 . . . . . . . chr19 17186367 17186505 10010 1 HAUS8_chr19_17188668_17188879_F:MYO9B_chr19_17188668_17188879_F:MYO9B_chr19_17190539_17191239_F 3 . -1 -1 . -1 . . . . . . . chr19 17189195 17189669 10000 2 MYO9B_chr19_17190539_17191239_F 1 . -1 -1 . -1 . . . . . . . chr19 17666274 17666447 10010 1 GLT25D1_chr19_17667126_17667426_F 1 . -1 -1 . -1 . . . . . . . chr19 18284315 18284535 11000 2 IFI30_chr19_18282501_18282708_F 1 . -1 -1 . -1 . . . . . . . chr19 18390368 18390535 10010 1 KIAA1683_chr19_18589079_18590172_S 1 . -1 -1 . -1 . . . . . . . chr19 18496426 18497057 11010 3 GDF15_chr19_18589079_18590172_S 1 . -1 -1 . -1 . . . . . . . chr19 18496467 18497057 11010 3 GDF15_chr19_18497624_18497977_F 1 . -1 -1 . -1 . . . . . . . chr19 18497594 18497807 11010 2 GDF15_chr19_18496467_18498001_F:GDF15_chr19_18497624_18497977_F:GDF15_chr19_18589079_18590172_S 3 . -1 -1 . -1 . . . . . . . chr19 18507269 18507560 11010 1 LRRC25_chr19_18504645_18504988_F 1 . -1 -1 . -1 . . . . . . . chr19 18589734 18589955 11000 2 CRLF1_chr19_18716767_18717297_S:GDF15_chr19_18496409_18497979_S:KIAA1683_chr19_18390167_18391717_S:RPL18A_chr19_17970294_17971447_S 4 . -1 -1 . -1 . . . . . . . chr19 18618800 18618889 11000 1 GATAD2A_chr19_19517876_19518021_S 1 . -1 -1 . -1 . . . . . . . chr19 18630769 18631141 11010 1 ELL_chr19_18630894_18633437_F 1 . -1 -1 . -1 . . . . . . . chr19 18630894 18631141 11010 1 ELL_chr19_18630929_18631259_F 1 . -1 -1 . -1 . . . . . . . chr19 18631084 18631141 11010 1 ELL_chr19_18631505_18633437_F 1 . -1 -1 . -1 . . . . . . . chr19 18633044 18633437 11010 2 ELL_chr19_18630929_18631259_F:ELL_chr19_18631384_18632027_F 2 . -1 -1 . -1 . . . . . . . chr19 19144330 19144633 11000 1 ARMC6_chr19_19143307_19143510_F:SUGP2_chr19_19143307_19143510_F 2 . -1 -1 . -1 . . . . . . . chr19 19976482 19976612 00000 1 ZNF253_chr19_19977247_19977754_F 1 . -1 -1 . -1 . . . . . . . chr19 21688726 21688969 00000 1 ZNF429_chr19_21689202_21689645_F 1 . -1 -1 . -1 . . . . . . . chr19 21688902 21688969 00000 1 ZNF429_chr19_21687936_21689624_F 1 . -1 -1 . -1 . . . . . . . chr19 21689371 21689528 00000 1 ZNF429_chr19_21687936_21689624_F:ZNF429_chr19_21689202_21689645_F 2 . -1 -1 . -1 . . . . . . . chr19 30155848 30156068 10001 1 PLEKHF1_chr19_30157267_30157499_F 1 . -1 -1 . -1 . . . . . . . chr19 30157100 30157584 10101 1 PLEKHF1_chr19_30157267_30157499_F 1 . -1 -1 . -1 . . . . . . . chr19 30157100 30157591 10101 1 PLEKHF1_chr19_30155826_30157584_F 1 . -1 -1 . -1 . . . . . . . chr19 32864800 32865148 11010 3 CEBPA-AS1_chr19_33793058_33794838_S 1 . -1 -1 . -1 . . . . . . . chr19 33793067 33793179 11000 1 CEBPA-AS1_chr19_32864800_32865348_S:CEBPA_chr19_33796303_33796393_F 2 chr19 33793119 33793120 CI087025 - 6 DM rs137852731 CEBPA Acute myeloid leukaemia CACGAGACGTCCATCGACATCAGCGCCTAC[-/CTAC]ATCGACCCGGCCGCCTTCAACGACGAGTTC ABST chr19 33793067 33793179 11000 1 CEBPA-AS1_chr19_32864800_32865348_S:CEBPA_chr19_33796303_33796393_F 2 chr19 33793132 33793133 CD118400 - 5 DM NULL CEBPA Acute myeloid leukaemia CGGCATCTGCGAGCACGAGACGTCCATCGA[C/-]ATCAGCGCCTACATCGACCCGGCCGCCTTC 21455213 chr19 33793366 33793811 11000 1 CEBPA-AS1_chr19_32864800_32865348_S:CEBPA_chr19_33796303_33796393_F 2 . -1 -1 . -1 . . . . . . . chr19 33794075 33794201 10000 1 CEBPA-AS1_chr19_32864800_32865348_S:CEBPA_chr19_33796303_33796393_F 2 . -1 -1 . -1 . . . . . . . chr19 33796296 33796463 11000 1 CEBPA_chr19_33792929_33796549_F:CEBPA_chr19_33796303_33796393_F 2 . -1 -1 . -1 . . . . . . . chr19 34664131 34664477 11101 2 LSM14A_chr19_34662851_34664784_F:LSM14A_chr19_34664379_34664787_F 2 . -1 -1 . -1 . . . . . . . chr19 34745075 34745507 11101 3 KIAA0355_chr19_34746041_34746169_F 1 . -1 -1 . -1 . . . . . . . chr19 34746350 34746469 10100 1 KIAA0355_chr19_34744955_34746306_F 1 . -1 -1 . -1 . . . . . . . chr19 35497371 35497548 10000 1 HPN_chr19_35530913_35533653_S:LSR_chr19_35738636_35740351_S:ZBTB32_chr19_36207216_36208950_S 3 . -1 -1 . -1 . . . . . . . chr19 35531769 35532248 11111 2 HPN_chr19_35497000_35498000_S 1 . -1 -1 . -1 . . . . . . . chr19 35533223 35533629 11111 2 HPN_chr19_35497000_35498000_S 1 . -1 -1 . -1 . . . . . . . chr19 35738828 35739863 00000 2 LSR_chr19_35497000_35498000_S 1 . -1 -1 . -1 . . . . . . . chr19 35760657 35760846 10101 1 USF2_chr19_35763394_35763606_F 1 . -1 -1 . -1 . . . . . . . chr19 35762519 35762750 10101 2 USF2_chr19_35763394_35763606_F 1 . -1 -1 . -1 . . . . . . . chr19 36208438 36208548 11110 1 ZBTB32_chr19_35497000_35498000_S 1 . -1 -1 . -1 . . . . . . . chr19 37157702 37157958 10000 3 ZNF461_chr19_37156610_37156902_F 1 . -1 -1 . -1 . . . . . . . chr19 38397720 38397863 00000 1 SIPA1L3_chr19_39190844_39192600_S 1 . -1 -1 . -1 . . . . . . . chr19 38791491 38791686 10100 2 C19orf33_chr19_38791279_38795304_F:C19orf33_chr19_38791297_38791661_F 2 . -1 -1 . -1 . . . . . . . chr19 39137869 39138309 10000 2 ACTN4_chr19_39190844_39192600_S 1 . -1 -1 . -1 . . . . . . . chr19 39192118 39192391 11110 2 21185_chr19_39897231_39898096_S:21185_chr19_39902487_39903769_S:ACTN4_chr19_39137869_39138649_S:ECH1_chr19_39321764_39322749_S:EID2B_chr19_40022928_40023677_S:EID2_chr19_40030531_40030990_S:HNRNPL_chr19_39339816_39340800_S:PAF1_chr19_39881252_39882456_S:PAK4_chr19_39616170_39617010_S:RPS16_chr19_39925759_39925859_S:RPS16_chr19_39926153_39927073_S:SAMD4B_chr19_39832076_39832767_S:SARS2_chr19_39420828_39422217_S:SARS2_chr19_39465791_39467560_S:SIPA1L3_chr19_38396998_38398271_S:ZNF607_chr19_38209994_38210883_S 16 . -1 -1 . -1 . . . . . . . chr19 39321764 39322029 10100 2 ECH1_chr19_39190844_39192600_S 1 . -1 -1 . -1 . . . . . . . chr19 39322346 39322749 11111 4 ECH1_chr19_39190844_39192600_S 1 . -1 -1 . -1 . . . . . . . chr19 39339965 39340282 11111 2 HNRNPL_chr19_39190844_39192600_S 1 . -1 -1 . -1 . . . . . . . chr19 39340641 39340800 10101 2 HNRNPL_chr19_39190844_39192600_S 1 . -1 -1 . -1 . . . . . . . chr19 39466703 39466903 11000 1 SARS2_chr19_39190844_39192600_S 1 . -1 -1 . -1 . . . . . . . chr19 39467056 39467345 11000 2 SARS2_chr19_39190844_39192600_S 1 . -1 -1 . -1 . . . . . . . chr19 39616208 39616948 10100 2 PAK4_chr19_39190844_39192600_S 1 . -1 -1 . -1 . . . . . . . chr19 39828858 39828951 10000 1 GMFG_chr19_39828554_39828947_F 1 . -1 -1 . -1 . . . . . . . chr19 39828858 39828986 10000 1 GMFG_chr19_39826225_39828951_F 1 . -1 -1 . -1 . . . . . . . chr19 39832571 39832767 10000 1 SAMD4B_chr19_39190844_39192600_S 1 . -1 -1 . -1 . . . . . . . chr19 39881662 39882041 11010 2 PAF1_chr19_39190844_39192600_S 1 . -1 -1 . -1 . . . . . . . chr19 39894295 39894567 11010 2 ZFP36_chr19_39894449_39897987_F 1 . -1 -1 . -1 . . . . . . . chr19 39894449 39894567 11010 2 ZFP36_chr19_39894353_39894945_F 1 . -1 -1 . -1 . . . . . . . chr19 39902780 39903182 10010 2 21185_chr19_39190844_39192600_S 1 . -1 -1 . -1 . . . . . . . chr19 39926572 39926769 00000 2 RPS16_chr19_39190844_39192600_S 1 . -1 -1 . -1 . . . . . . . chr19 40931686 40931916 11110 1 SERTAD1_chr19_40930264_40930817_F 1 . -1 -1 . -1 . . . . . . . chr19 40969493 40969819 10000 1 BLVRB_chr19_40969413_40972225_F:BLVRB_chr19_40969437_40969789_F 2 . -1 -1 . -1 . . . . . . . chr19 40971198 40971388 10010 2 BLVRB_chr19_40969437_40969789_F 1 . -1 -1 . -1 . . . . . . . chr19 40971622 40971765 10111 1 BLVRB_chr19_40969437_40969789_F 1 . -1 -1 . -1 . . . . . . . chr19 40972104 40972225 10101 3 BLVRB_chr19_40969437_40969789_F 1 . -1 -1 . -1 . . . . . . . chr19 41222810 41223033 11000 1 ITPKC_chr19_41226531_41226793_F 1 . -1 -1 . -1 . . . . . . . chr19 41223366 41223694 11010 1 ITPKC_chr19_41226531_41226793_F 1 . -1 -1 . -1 . . . . . . . chr19 41224739 41225165 11000 2 ITPKC_chr19_41226531_41226793_F 1 . -1 -1 . -1 . . . . . . . chr19 41767977 41768090 10000 1 HNRNPUL1_chr19_41771602_41771660_F 1 . -1 -1 . -1 . . . . . . . chr19 41768283 41768581 11111 2 HNRNPUL1_chr19_41771602_41771660_F 1 . -1 -1 . -1 . . . . . . . chr19 41769619 41770136 11111 1 HNRNPUL1_chr19_41771602_41771660_F 1 . -1 -1 . -1 . . . . . . . chr19 41814560 41814733 10000 1 CCDC97_chr19_41814358_41816594_F:CCDC97_chr19_41814398_41814719_F 2 . -1 -1 . -1 . . . . . . . chr19 42363618 42364317 11000 2 ENSG00000105372_chr19_41827552_41828400_S:ENSG00000105372_chr19_42392000_42392592_S:ENSG00000105372_chr19_42790019_42790200_S 3 chr19 42364187 42364188 CR099926 + 3 DM? NULL RPS19 Diamond-Blackfan anaemia CCCTCCCCTTTACCTCTCCACCCCTCACTA[G/A]ACACCCTCCCCTCTAGGCGGGGACGAACTT 20054847 chr19 42721891 42722067 11100 1 DEDD2_chr19_42392000_42392592_S 1 . -1 -1 . -1 . . . . . . . chr19 42829532 42829666 11111 1 MEGF8_chr19_42392000_42392592_S 1 . -1 -1 . -1 . . . . . . . chr19 44506957 44507224 10000 2 ZNF230_chr19_45427054_45429400_S 1 . -1 -1 . -1 . . . . . . . chr19 44555932 44556203 10000 1 ZNF223_chr19_44555398_44555498_F 1 . -1 -1 . -1 . . . . . . . chr19 45280997 45281124 10000 1 CBLC_chr19_45279679_45279961_F 1 . -1 -1 . -1 . . . . . . . chr19 45281436 45281626 11100 1 CBLC_chr19_45279679_45279961_F 1 . -1 -1 . -1 . . . . . . . chr19 45311400 45311616 10100 1 BCAM_chr19_45438876_45439660_S 1 . -1 -1 . -1 . . . . . . . chr19 45348068 45348215 11111 1 PVRL2_chr19_45414200_45414807_S:PVRL2_chr19_45438876_45439660_S 2 . -1 -1 . -1 . . . . . . . chr19 45349037 45349471 11111 1 PVRL2_chr19_45350775_45351289_F:PVRL2_chr19_45414200_45414807_S 2 . -1 -1 . -1 . . . . . . . chr19 45393661 45394166 10000 2 TOMM40_chr19_45393544_45394977_F 1 . -1 -1 . -1 . . . . . . . chr19 45393661 45394222 10000 2 TOMM40_chr19_45393623_45393866_F:TOMM40_chr19_45548800_45549400_S 2 . -1 -1 . -1 . . . . . . . chr19 45407026 45407439 10000 1 APOE_chr19_45414200_45414807_S:APOE_chr19_45427054_45429400_S:APOE_chr19_45438876_45439660_S 3 . -1 -1 . -1 . . . . . . . chr19 45414482 45414726 10000 1 APOE_chr19_45406986_45407600_S:EML2_chr19_46146528_46146635_S:PVRL2_chr19_45347874_45348392_S:PVRL2_chr19_45348789_45349866_S:VASP_chr19_46009457_46011147_S 5 . -1 -1 . -1 . . . . . . . chr19 45427534 45427925 10000 3 21183_chr19_45981696_45982563_S:APOE_chr19_45406986_45407600_S:DMPK_chr19_46272008_46274368_S:QPCTL_chr19_46194846_46196830_S:TRAPPC6A_chr19_45681070_45681693_S:VASP_chr19_46009457_46011147_S:ZNF230_chr19_44506713_44507494_S 7 . -1 -1 . -1 . . . . . . . chr19 45428655 45429278 10000 2 21183_chr19_45981696_45982563_S:APOE_chr19_45406986_45407600_S:DMPK_chr19_46272008_46274368_S:QPCTL_chr19_46194846_46196830_S:TRAPPC6A_chr19_45681070_45681693_S:VASP_chr19_46009457_46011147_S:ZNF230_chr19_44506713_44507494_S 7 . -1 -1 . -1 . . . . . . . chr19 45439151 45439359 10000 4 21183_chr19_45981696_45982563_S:APOE_chr19_45406986_45407600_S:BCAM_chr19_45311400_45311672_S:DMPK_chr19_46272008_46274368_S:PVRL2_chr19_45347874_45348392_S:QPCTL_chr19_46194846_46196830_S:VASP_chr19_46009457_46011147_S 7 chr19 45439163 45439164 CR084697 + 3 DP rs35136575 APOC1 LDL cholesterol levels: association with CAGGCTCTGTTTTTGGGCCCGCCCTGCCCC[C/G]TTCCGACCTCTTAGTTCCTATCCTCCAGCA 18378515 chr19 45548935 45549400 11000 3 TOMM40_chr19_45393507_45395083_S 1 . -1 -1 . -1 . . . . . . . chr19 45681427 45681693 10000 2 TRAPPC6A_chr19_45427054_45429400_S 1 . -1 -1 . -1 . . . . . . . chr19 45908545 45908749 10010 1 PPP1R13L_chr19_45905744_45905944_F 1 . -1 -1 . -1 . . . . . . . chr19 45970887 45971274 10111 1 FOSB_chr19_45968349_45968608_F 1 . -1 -1 . -1 . . . . . . . chr19 45981696 45981977 10111 1 21183_chr19_45427054_45429400_S:21183_chr19_45438876_45439660_S 2 . -1 -1 . -1 . . . . . . . chr19 45982389 45982541 10010 1 21183_chr19_45427054_45429400_S:21183_chr19_45438876_45439660_S 2 . -1 -1 . -1 . . . . . . . chr19 46010602 46010752 10000 1 VASP_chr19_45414200_45414807_S:VASP_chr19_45427054_45429400_S:VASP_chr19_45438876_45439660_S:VASP_chr19_46011701_46012269_F:VASP_chr19_46012498_46012899_F:VASP_chr19_46014236_46014617_F 6 . -1 -1 . -1 . . . . . . . chr19 46013452 46013629 10000 1 VASP_chr19_46014236_46014617_F 1 . -1 -1 . -1 . . . . . . . chr19 46195189 46195958 11111 3 QPCTL_chr19_45427054_45429400_S:QPCTL_chr19_45438876_45439660_S 2 . -1 -1 . -1 . . . . . . . chr19 46196617 46196764 10000 1 QPCTL_chr19_45427054_45429400_S:QPCTL_chr19_45438876_45439660_S 2 . -1 -1 . -1 . . . . . . . chr19 46272563 46272718 11110 2 DMPK_chr19_45427054_45429400_S:DMPK_chr19_45438876_45439660_S 2 . -1 -1 . -1 . . . . . . . chr19 46273825 46274131 11010 2 DMPK_chr19_45427054_45429400_S:DMPK_chr19_45438876_45439660_S 2 . -1 -1 . -1 . . . . . . . chr19 47370200 47370267 11000 1 SLC1A5_chr19_47287679_47288427_S 1 . -1 -1 . -1 . . . . . . . chr19 47610645 47610798 10000 1 CCDC9_chr19_47759327_47761153_S:SLC1A5_chr19_47287679_47288427_S:ZC3H4_chr19_47615076_47617479_S 3 . -1 -1 . -1 . . . . . . . chr19 47616378 47616540 10110 1 ZC3H4_chr19_47609960_47611000_S:ZC3H4_chr19_47613231_47613789_F:ZC3H4_chr19_47613894_47614902_F 3 . -1 -1 . -1 . . . . . . . chr19 47759762 47759887 10000 1 CCDC9_chr19_47609960_47611000_S 1 . -1 -1 . -1 . . . . . . . chr19 47760114 47761006 10110 3 CCDC9_chr19_47609960_47611000_S 1 . -1 -1 . -1 . . . . . . . chr19 47814193 47814396 10110 1 C5AR1_chr19_47812603_47814573_F:C5AR1_chr19_47814150_47814595_F 2 . -1 -1 . -1 . . . . . . . chr19 47852443 47852676 10010 1 DHX34_chr19_47854917_47855115_F 1 . -1 -1 . -1 . . . . . . . chr19 47856597 47856769 10000 2 SLC1A5_chr19_47287679_47288427_S 1 . -1 -1 . -1 . . . . . . . chr19 48015884 48016102 11000 4 NAPA_chr19_48015987_48019015_F 1 . -1 -1 . -1 . . . . . . . chr19 48015987 48016102 11000 4 NAPA_chr19_48016024_48016351_F 1 . -1 -1 . -1 . . . . . . . chr19 48018218 48018373 10101 1 NAPA_chr19_48016024_48016351_F:NAPA_chr19_48016569_48017036_F 2 . -1 -1 . -1 . . . . . . . chr19 48018384 48018870 11111 2 NAPA_chr19_48016024_48016351_F:NAPA_chr19_48016569_48017036_F 2 . -1 -1 . -1 . . . . . . . chr19 49465708 49465818 10001 1 FTL_chr19_49465709_49469066_F 1 . -1 -1 . -1 . . . . . . . chr19 49465709 49465818 10001 1 FTL_chr19_49465555_49466264_F 1 . -1 -1 . -1 . . . . . . . chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468572 49468573 CR107790 + 3 DM? NULL FTL Hyperferritinaemia-cataract syndrome AAGCCGCCCTAGCCACGTCCCCTCGCAGTT[C/G]GGCGGTCCCGCGGGTCTGTCTCTTGCTTCA 20578964 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468575 49468576 CR031001 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CCGCCCTAGCCACGTCCCCTCGCAGTTCGG[C/T]GGTCCCGCGGGTCTGTCTCTTGCTTCAACA 12670350 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468579 49468580 CR011064 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CCTAGCCACGTCCCCTCGCAGTTCGGCGGT[C/G]CCGCGGGTCTGTCTCTTGCTTCAACAGTGT 11238302 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468581 49468582 CR031002 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TAGCCACGTCCCCTCGCAGTTCGGCGGTCC[C/T]GCGGGTCTGTCTCTTGCTTCAACAGTGTTT 12670350 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468583 49468584 CR061335 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GCCACGTCCCCTCGCAGTTCGGCGGTCCCG[C/T]GGGTCTGTCTCTTGCTTCAACAGTGTTTGG 16395671 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468587 49468588 CR061334 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CGTCCCCTCGCAGTTCGGCGGTCCCGCGGG[T/G]CTGTCTCTTGCTTCAACAGTGTTTGGACGG 16395671 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468589 49468590 CR116734 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TCCCCTCGCAGTTCGGCGGTCCCGCGGGTC[T/C]GTCTCTTGCTTCAACAGTGTTTGGACGGAA 21410535 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468594 49468595 HR030029 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TCGCAGTTCGGCGGTCCCGCGGGTCTGTCT[C/G]TTGCTTCAACAGTGTTTGGACGGAACAGAT HGOL chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468597 49468598 CR023756 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CAGTTCGGCGGTCCCGCGGGTCTGTCTCTT[G/C]CTTCAACAGTGTTTGGACGGAACAGATCCG 12200611 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468597 49468598 CR971942 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CAGTTCGGCGGTCCCGCGGGTCTGTCTCTT[G/A]CTTCAACAGTGTTTGGACGGAACAGATCCG 9226182 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468597 49468598 CR982414 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CAGTTCGGCGGTCCCGCGGGTCTGTCTCTT[G/T]CTTCAACAGTGTTTGGACGGAACAGATCCG 9414300 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468598 49468599 CR032432 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome AGTTCGGCGGTCCCGCGGGTCTGTCTCTTG[C/A]TTCAACAGTGTTTGGACGGAACAGATCCGG 12730114 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468598 49468599 CR993997 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome AGTTCGGCGGTCCCGCGGGTCTGTCTCTTG[C/T]TTCAACAGTGTTTGGACGGAACAGATCCGG 10383191 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468599 49468600 CR032433 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GTTCGGCGGTCCCGCGGGTCTGTCTCTTGC[T/C]TCAACAGTGTTTGGACGGAACAGATCCGGG 12730114 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468601 49468602 CR031003 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TCGGCGGTCCCGCGGGTCTGTCTCTTGCTT[C/G]AACAGTGTTTGGACGGAACAGATCCGGGGA 12670350 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468601 49468602 CR138623 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TCGGCGGTCCCGCGGGTCTGTCTCTTGCTT[C/T]AACAGTGTTTGGACGGAACAGATCCGGGGA 23421845 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468601 49468602 CR971943 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TCGGCGGTCCCGCGGGTCTGTCTCTTGCTT[C/A]AACAGTGTTTGGACGGAACAGATCCGGGGA 9414313 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468602 49468603 CR031004 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CGGCGGTCCCGCGGGTCTGTCTCTTGCTTC[A/G]ACAGTGTTTGGACGGAACAGATCCGGGGAC 12670350 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468602 49468603 CR061332 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CGGCGGTCCCGCGGGTCTGTCTCTTGCTTC[A/C]ACAGTGTTTGGACGGAACAGATCCGGGGAC 16395671 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468602 49468603 CR061333 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CGGCGGTCCCGCGGGTCTGTCTCTTGCTTC[A/T]ACAGTGTTTGGACGGAACAGATCCGGGGAC 16395671 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468604 49468605 CR022280 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GCGGTCCCGCGGGTCTGTCTCTTGCTTCAA[C/A]AGTGTTTGGACGGAACAGATCCGGGGACTC 12199804 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468604 49468605 CR043893 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GCGGTCCCGCGGGTCTGTCTCTTGCTTCAA[C/G]AGTGTTTGGACGGAACAGATCCGGGGACTC 15234655 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468604 49468605 CR971944 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GCGGTCCCGCGGGTCTGTCTCTTGCTTCAA[C/T]AGTGTTTGGACGGAACAGATCCGGGGACTC 9414313 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468605 49468606 CR951551 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CGGTCCCGCGGGTCTGTCTCTTGCTTCAAC[A/G]GTGTTTGGACGGAACAGATCCGGGGACTCT 7493028 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468606 49468607 CR951552 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GGTCCCGCGGGTCTGTCTCTTGCTTCAACA[G/C]TGTTTGGACGGAACAGATCCGGGGACTCTC 7492760 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468608 49468609 CR051708 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TCCCGCGGGTCTGTCTCTTGCTTCAACAGT[G/A]TTTGGACGGAACAGATCCGGGGACTCTCTT 15690351 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468611 49468612 CR098064 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CGCGGGTCTGTCTCTTGCTTCAACAGTGTT[T/G]GGACGGAACAGATCCGGGGACTCTCTTCCA 19887780 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468612 49468613 CR032434 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GCGGGTCTGTCTCTTGCTTCAACAGTGTTT[G/A]GACGGAACAGATCCGGGGACTCTCTTCCAG 12730114 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468614 49468615 CR107791 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GGGTCTGTCTCTTGCTTCAACAGTGTTTGG[A/C]CGGAACAGATCCGGGGACTCTCTTCCAGCC 20578964 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468615 49468616 CR085179 + 3 DM NULL FTL Hyperferritinaemia GGTCTGTCTCTTGCTTCAACAGTGTTTGGA[C/A]GGAACAGATCCGGGGACTCTCTTCCAGCCT 18710380 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468616 49468617 CR003496 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GTCTGTCTCTTGCTTCAACAGTGTTTGGAC[G/C]GAACAGATCCGGGGACTCTCTTCCAGCCTC 10759702 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468617 49468618 CR138624 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TCTGTCTCTTGCTTCAACAGTGTTTGGACG[G/C]AACAGATCCGGGGACTCTCTTCCAGCCTCC 23421845 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468621 49468622 CR061336 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TCTCTTGCTTCAACAGTGTTTGGACGGAAC[A/T]GATCCGGGGACTCTCTTCCAGCCTCCGACC 16395671 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468655 49468656 CR031005 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CCGGGGACTCTCTTCCAGCCTCCGACCGCC[C/T]TCCGATTTCCTCTCCGCTTGCAACCTCCGG 12670350 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468765 49468766 CM041345 + 1 DM rs139732572 FTL L-ferritin deficiency ttgtggttagctccttcttgccaaccaacc[A/G]TGAGCTCCCAGATTCGTCAGAATTATTCCA 15173247 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468841 49468842 CM124942 + 1 DM NULL FTL Hyperferritinaemia CCGTCAACAGCCTGGTCAATTTGTACCTGC[A/T]GGCCTCCTACACCTACCTCTCTCTGgtgag 22535864 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468844 49468845 CM124941 + 1 DM NULL FTL Hyperferritinaemia TCAACAGCCTGGTCAATTTGTACCTGCAGG[C/T]CTCCTACACCTACCTCTCTCTGgtgagtcc 22535864 chr19 49468384 49469011 11111 3 FTL_chr19_49465555_49466264_F:FTL_chr19_49466802_49467527_F 2 chr19 49468853 49468854 CM091262 + 1 DM NULL FTL Hyperferritinaemia TGGTCAATTTGTACCTGCAGGCCTCCTACA[C/T]CTACCTCTCTCTGgtgagtccccaggacgc 19176363 chr19 50143580 50143804 10010 2 RRAS_chr19_50141205_50141513_F 1 . -1 -1 . -1 . . . . . . . chr19 51865936 51866297 10000 4 NKG7_chr19_51868505_51871836_S 1 . -1 -1 . -1 . . . . . . . chr19 51868856 51868967 11000 1 NKG7_chr19_51865359_51866600_S 1 . -1 -1 . -1 . . . . . . . chr19 51869685 51870003 11010 3 NKG7_chr19_51865359_51866600_S 1 . -1 -1 . -1 . . . . . . . chr19 51870892 51871076 11000 1 NKG7_chr19_51865359_51866600_S 1 . -1 -1 . -1 . . . . . . . chr19 52267961 52268143 10000 1 FPR2_chr19_52263952_52267907_F:FPR2_chr19_52266141_52267907_F:FPR2_chr19_52269692_52270063_F 3 . -1 -1 . -1 . . . . . . . chr19 52643065 52643506 10000 2 ZNF616_chr19_52641935_52642117_F 1 . -1 -1 . -1 . . . . . . . chr19 53238287 53238447 10000 1 ZNF611_chr19_53237186_53237523_F:ZNF611_chr19_53237186_53237523_F 2 . -1 -1 . -1 . . . . . . . chr19 54372865 54373035 10111 1 MYADM_chr19_54373735_54373974_F:MYADM_chr19_54373735_54373974_F:MYADM_chr19_54373735_54373974_F 3 . -1 -1 . -1 . . . . . . . chr19 54713727 54714144 00000 3 ENSG00000224579_chr19_54712400_54712600_S 1 . -1 -1 . -1 . . . . . . . chr19 55629055 55629283 10111 1 PPP1R12C_chr19_55626810_55627228_F:PPP1R12C_chr19_55627475_55627790_F 2 . -1 -1 . -1 . . . . . . . chr19 55850135 55850640 11000 2 SUV420H2_chr19_55850112_55851721_F:SUV420H2_chr19_55850120_55850505_F 2 . -1 -1 . -1 . . . . . . . chr19 55850969 55851184 11111 1 SUV420H2_chr19_55850120_55850505_F 1 . -1 -1 . -1 . . . . . . . chr19 56616762 56616888 10000 3 ZNF444_chr19_56651854_56654097_S 1 . -1 -1 . -1 . . . . . . . chr19 56631742 56632016 10000 1 ZNF787_chr19_57411585_57412400_S:ZNF787_chr19_57486000_57487494_S 2 . -1 -1 . -1 . . . . . . . chr19 56632555 56633088 10010 1 ZNF787_chr19_57411585_57412400_S:ZNF787_chr19_57486000_57487494_S 2 . -1 -1 . -1 . . . . . . . chr19 56651984 56652675 11111 2 ZNF444_chr19_56616762_56617200_S:ZNF444_chr19_57392200_57392595_S:ZNF444_chr19_57411585_57412400_S:ZNF444_chr19_57486000_57487494_S:ZNF444_chr19_57489240_57489890_S 5 . -1 -1 . -1 . . . . . . . chr19 56653533 56653981 11111 3 ZNF444_chr19_56616762_56617200_S:ZNF444_chr19_57392200_57392595_S:ZNF444_chr19_57411585_57412400_S:ZNF444_chr19_57486000_57487494_S:ZNF444_chr19_57489240_57489890_S 5 . -1 -1 . -1 . . . . . . . chr19 57349509 57349745 10100 1 PEG3_chr19_57349390_57352594_F:PEG3_chr19_57349423_57349757_F:PEG3_chr19_57486000_57487494_S:ZIM2_chr19_57349390_57352597_F:ZIM2_chr19_57349423_57349757_F 5 . -1 -1 . -1 . . . . . . . chr19 57350837 57351077 11000 1 PEG3_chr19_57349423_57349757_F:PEG3_chr19_57486000_57487494_S:ZIM2_chr19_57349423_57349757_F 3 . -1 -1 . -1 . . . . . . . chr19 57350844 57351077 11000 1 PEG3_chr19_57351079_57352594_F:ZIM2_chr19_57351079_57352597_F 2 . -1 -1 . -1 . . . . . . . chr19 57874645 57874787 10000 3 ZNF547_chr19_57486000_57487494_S 1 . -1 -1 . -1 . . . . . . . chr19 58459053 58459272 10000 1 ZNF256_chr19_57486000_57487494_S:ZNF256_chr19_57489240_57489890_S 2 . -1 -1 . -1 . . . . . . . chr20 277809 278236 11000 2 ZCCHC3_chr20_490852_491379_S:ZCCHC3_chr20_491471_491800_S:ZCCHC3_chr20_626800_627600_S 3 . -1 -1 . -1 . . . . . . . chr20 279241 279446 11001 2 ZCCHC3_chr20_490852_491379_S:ZCCHC3_chr20_491471_491800_S:ZCCHC3_chr20_626800_627600_S 3 . -1 -1 . -1 . . . . . . . chr20 306006 306186 11101 1 SOX12_chr20_490852_491379_S:SOX12_chr20_491471_491800_S:SOX12_chr20_626800_627600_S 3 . -1 -1 . -1 . . . . . . . chr20 343122 343485 10101 3 ENSG00000172070_chr20_632851_634772_S:SDCBP2_chr20_1307333_1310000_S:TBC1D20_chr20_442118_443471_S:TRIB3_chr20_360988_363155_S 4 . -1 -1 . -1 . . . . . . . chr20 361557 361700 11101 3 TRIB3_chr20_342871_343572_S:TRIB3_chr20_376672_378400_S:TRIB3_chr20_381600_383800_S:TRIB3_chr20_490852_491379_S:TRIB3_chr20_491471_491800_S:TRIB3_chr20_626800_627600_S 6 . -1 -1 . -1 . . . . . . . chr20 362479 362623 10000 1 TRIB3_chr20_342871_343572_S:TRIB3_chr20_376672_378400_S:TRIB3_chr20_381600_383800_S:TRIB3_chr20_490852_491379_S:TRIB3_chr20_491471_491800_S:TRIB3_chr20_626800_627600_S 6 . -1 -1 . -1 . . . . . . . chr20 377373 377681 11100 3 TBC1D20_chr20_442118_443471_S:TRIB3_chr20_360988_363155_S 2 . -1 -1 . -1 . . . . . . . chr20 382584 382884 10000 3 TBC1D20_chr20_442118_443471_S:TRIB3_chr20_360988_363155_S 2 . -1 -1 . -1 . . . . . . . chr20 388126 388304 11100 1 RBCK1_chr20_626800_627600_S 1 . -1 -1 . -1 . . . . . . . chr20 442177 442452 10100 1 TBC1D20_chr20_342871_343572_S:TBC1D20_chr20_376672_378400_S:TBC1D20_chr20_381600_383800_S:TBC1D20_chr20_488902_489600_S:TBC1D20_chr20_490282_490430_S:TBC1D20_chr20_490852_491379_S:TBC1D20_chr20_491471_491800_S:TBC1D20_chr20_626800_627600_S 8 . -1 -1 . -1 . . . . . . . chr20 443253 443362 10101 2 TBC1D20_chr20_342871_343572_S:TBC1D20_chr20_376672_378400_S:TBC1D20_chr20_381600_383800_S:TBC1D20_chr20_488902_489600_S:TBC1D20_chr20_490282_490430_S:TBC1D20_chr20_490852_491379_S:TBC1D20_chr20_491471_491800_S:TBC1D20_chr20_626800_627600_S 8 . -1 -1 . -1 . . . . . . . chr20 489092 489228 11100 2 TBC1D20_chr20_442118_443471_S 1 . -1 -1 . -1 . . . . . . . chr20 491229 491379 11000 2 ENSG00000172070_chr20_632374_632531_S:ENSG00000172070_chr20_632851_634772_S:FKBP1A_chr20_1372505_1372631_S:NRSN2_chr20_327119_329269_S:NSFL1C_chr20_1446743_1448325_S:SDCBP2_chr20_1307333_1310000_S:SOX12_chr20_304664_308676_S:SOX12_chr20_309251_309351_S:SOX12_chr20_309491_309639_S:SOX12_chr20_309756_309923_S:SOX12_chr20_310045_310200_S:TBC1D20_chr20_442118_443471_S:TRIB3_chr20_360988_363155_S:ZCCHC3_chr20_277809_279518_S 14 . -1 -1 . -1 . . . . . . . chr20 491471 491518 11000 2 ENSG00000172070_chr20_632374_632531_S:ENSG00000172070_chr20_632851_634772_S:FKBP1A_chr20_1372925_1374082_S:NRSN2_chr20_327119_329269_S:NSFL1C_chr20_1446743_1448325_S:SDCBP2_chr20_1307333_1310000_S:SOX12_chr20_304664_308676_S:SOX12_chr20_309251_309351_S:SOX12_chr20_309491_309639_S:SOX12_chr20_309756_309923_S:SOX12_chr20_310045_310200_S:TBC1D20_chr20_442118_443471_S:TRIB3_chr20_360988_363155_S:ZCCHC3_chr20_277809_279518_S 14 . -1 -1 . -1 . . . . . . . chr20 627031 627179 10000 1 NRSN2_chr20_327119_329269_S:NSFL1C_chr20_1446743_1448325_S:RBCK1_chr20_387678_390086_S:SOX12_chr20_304664_308676_S:SOX12_chr20_309251_309351_S:SOX12_chr20_309491_309639_S:SOX12_chr20_309756_309923_S:SOX12_chr20_310045_310200_S:TBC1D20_chr20_442118_443471_S:TRIB3_chr20_360988_363155_S:ZCCHC3_chr20_277809_279518_S 11 . -1 -1 . -1 . . . . . . . chr20 633988 634311 11100 1 ENSG00000172070_chr20_342871_343572_S:ENSG00000172070_chr20_490852_491379_S:ENSG00000172070_chr20_491471_491800_S 3 . -1 -1 . -1 . . . . . . . chr20 1306309 1306715 11000 4 SDCBP2_chr20_1307828_1308261_F 1 . -1 -1 . -1 . . . . . . . chr20 1308814 1309062 10000 1 SDCBP2_chr20_342871_343572_S:SDCBP2_chr20_490852_491379_S:SDCBP2_chr20_491471_491800_S 3 . -1 -1 . -1 . . . . . . . chr20 1309794 1310000 11000 2 SDCBP2_chr20_342871_343572_S:SDCBP2_chr20_490852_491379_S:SDCBP2_chr20_491471_491800_S 3 . -1 -1 . -1 . . . . . . . chr20 1309794 1310016 11000 2 SDCBP2_chr20_1310858_1311228_F 1 . -1 -1 . -1 . . . . . . . chr20 1310276 1310499 10000 1 SDCBP2_chr20_1310858_1311228_F 1 . -1 -1 . -1 . . . . . . . chr20 1310863 1310964 10000 1 SDCBP2_chr20_1309378_1311244_F:SDCBP2_chr20_1310858_1311228_F 2 . -1 -1 . -1 . . . . . . . chr20 1373677 1373956 11101 1 FKBP1A_chr20_491471_491800_S 1 . -1 -1 . -1 . . . . . . . chr20 1447483 1447635 11000 1 NSFL1C_chr20_490852_491379_S:NSFL1C_chr20_491471_491800_S:NSFL1C_chr20_626800_627600_S 3 . -1 -1 . -1 . . . . . . . chr20 1874988 1875149 11001 3 SIRPA_chr20_1876933_1877521_F:SIRPA_chr20_1876933_1877521_F:SIRPA_chr20_1878572_1879041_F:SIRPA_chr20_1878572_1879041_F 4 . -1 -1 . -1 . . . . . . . chr20 1876276 1876755 10000 2 SIRPA_chr20_1876933_1877521_F:SIRPA_chr20_1876933_1877521_F:SIRPA_chr20_1876933_1877521_F:SIRPA_chr20_1878572_1879041_F:SIRPA_chr20_1878572_1879041_F:SIRPA_chr20_1878572_1879041_F 6 . -1 -1 . -1 . . . . . . . chr20 1876633 1876755 10000 2 SIRPA_chr20_1874312_1877428_F:SIRPA_chr20_1874924_1877428_F:SIRPA_chr20_1875325_1877428_F 3 . -1 -1 . -1 . . . . . . . chr20 2451505 2451701 11100 2 SNRPB_chr20_3083394_3085207_S:SNRPB_chr20_3203043_3206389_S 2 . -1 -1 . -1 . . . . . . . chr20 2928145 2928384 11001 3 AP5S1_chr20_3800512_3801878_S:UBOX5_chr20_3139560_3140815_S 2 . -1 -1 . -1 . . . . . . . chr20 3185208 3185462 11100 1 ITPA_chr20_3083394_3085207_S:ITPA_chr20_3203043_3206389_S 2 . -1 -1 . -1 . . . . . . . chr20 3778797 3779080 10000 2 CDC25B_chr20_3779808_3780100_F 1 . -1 -1 . -1 . . . . . . . chr20 3801403 3801549 11101 1 AP5S1_chr20_2927566_2928800_S:AP5S1_chr20_3083394_3085207_S 2 . -1 -1 . -1 . . . . . . . chr20 3869432 3870019 11101 2 PANK2_chr20_3083394_3085207_S:PANK2_chr20_3203043_3206389_S 2 chr20 3869884 3869885 CM1312590 + 1 DM? rs148036492 PANK2 HARP syndrome CCTCCACCACCCTCTCCCCGCCCCGTCACG[A/T]TAGCCTCTCATTGGACGGAGGCACGGTCAA 24215330 chr20 3996272 3996404 11000 2 RNF24_chr20_3993168_3993585_F:RNF24_chr20_3993168_3993585_F 2 . -1 -1 . -1 . . . . . . . chr20 4152217 4152356 10000 1 SMOX_chr20_3199000_3199684_S:SMOX_chr20_3203043_3206389_S:SMOX_chr20_4947228_4949000_S:SMOX_chr20_5130343_5131812_S:SMOX_chr20_5137043_5137769_S 5 . -1 -1 . -1 . . . . . . . chr20 4152906 4153019 10001 1 SMOX_chr20_3199000_3199684_S:SMOX_chr20_3203043_3206389_S:SMOX_chr20_4947228_4949000_S:SMOX_chr20_5130343_5131812_S:SMOX_chr20_5137043_5137769_S 5 . -1 -1 . -1 . . . . . . . chr20 4947653 4948404 11000 4 SMOX_chr20_4152031_4153361_S 1 . -1 -1 . -1 . . . . . . . chr20 5100603 5100857 10101 1 PCNA_chr20_5153400_5154000_S 1 . -1 -1 . -1 . . . . . . . chr20 5107017 5107835 11101 2 CDS2_chr20_5130343_5131812_S:CDS2_chr20_5153400_5154000_S 2 . -1 -1 . -1 . . . . . . . chr20 5130851 5131640 11001 4 CDS2_chr20_5106906_5108626_S:GPCPD1_chr20_5590579_5592024_S:SMOX_chr20_4152031_4153361_S:TMEM230_chr20_5093044_5094326_S 4 . -1 -1 . -1 . . . . . . . chr20 5137392 5137670 10000 1 SMOX_chr20_4152031_4153361_S 1 . -1 -1 . -1 . . . . . . . chr20 5153641 5154000 11100 4 CDS2_chr20_5106906_5108626_S:GPCPD1_chr20_5590579_5592024_S:PCNA_chr20_5099581_5101140_S:TMEM230_chr20_5093044_5094326_S 4 . -1 -1 . -1 . . . . . . . chr20 5591450 5591970 10000 1 GPCPD1_chr20_5130343_5131812_S:GPCPD1_chr20_5153400_5154000_S:GPCPD1_chr20_5588948_5589498_F:GPCPD1_chr20_5589880_5590681_F 4 . -1 -1 . -1 . . . . . . . chr20 5931143 5931312 11101 1 TRMT6_chr20_5927973_5928389_F 1 . -1 -1 . -1 . . . . . . . chr20 10197846 10197972 10000 1 SNAP25_chr20_10197196_10197344_F 1 . -1 -1 . -1 . . . . . . . chr20 10410214 10410405 10000 2 JAG1_chr20_10651370_10655919_S 1 . -1 -1 . -1 . . . . . . . chr20 10415795 10415992 10101 1 MKKS_chr20_10584472_10585616_S 1 . -1 -1 . -1 . . . . . . . chr20 10585289 10585451 11100 3 JAG1_chr20_10651370_10655919_S:MKKS_chr20_10413949_10416478_S 2 . -1 -1 . -1 . . . . . . . chr20 10652328 10652472 10101 1 JAG1_chr20_10410000_10411107_S:JAG1_chr20_10584472_10585616_S:JAG1_chr20_10652051_10655194_F:JAG1_chr20_10652083_10652420_F 4 . -1 -1 . -1 . . . . . . . chr20 13404621 13404763 10100 1 FLRT3_chr20_14318089_14318407_S:SPTLC3_chr20_12989533_12990103_S 2 . -1 -1 . -1 . . . . . . . chr20 13405093 13405277 10000 2 FLRT3_chr20_14318089_14318407_S:SPTLC3_chr20_12989533_12990103_S 2 . -1 -1 . -1 . . . . . . . chr20 14318176 14318407 11101 2 FLRT3_chr20_13404196_13405742_S 1 . -1 -1 . -1 . . . . . . . chr20 16455970 16456225 11001 2 KIF16B_chr20_16553603_16554549_S 1 . -1 -1 . -1 . . . . . . . chr20 16554162 16554338 10101 2 KIF16B_chr20_16455804_16456756_S 1 . -1 -1 . -1 . . . . . . . chr20 17585958 17586161 11101 3 DZANK1_chr20_18394080_18394180_S 1 . -1 -1 . -1 . . . . . . . chr20 17663235 17663500 10001 1 RRBP1_chr20_17836674_17837294_S 1 . -1 -1 . -1 . . . . . . . chr20 17941724 17942023 11000 2 SNX5_chr20_17593084_17594000_S:SNX5_chr20_17836674_17837294_S 2 . -1 -1 . -1 . . . . . . . chr20 17945836 17946012 11001 1 SNX5_chr20_17946137_17949654_F:SNX5_chr20_17946137_17949990_F 2 . -1 -1 . -1 . . . . . . . chr20 17946470 17946659 10101 1 SNX5_chr20_17946136_17946538_F:SNX5_chr20_17946136_17946538_F:SNX5_chr20_17946137_17949654_F:SNX5_chr20_17946137_17949990_F 4 . -1 -1 . -1 . . . . . . . chr20 17947727 17947876 11000 1 SNX5_chr20_17946136_17946538_F:SNX5_chr20_17946136_17946538_F 2 . -1 -1 . -1 . . . . . . . chr20 17948304 17948568 11000 1 SNX5_chr20_17946136_17946538_F:SNX5_chr20_17946136_17946538_F 2 . -1 -1 . -1 . . . . . . . chr20 17949550 17949654 11101 1 SNX5_chr20_17946136_17946538_F 1 . -1 -1 . -1 . . . . . . . chr20 17949550 17949786 11101 1 SNX5_chr20_17836674_17837294_S:SNX5_chr20_17946136_17946538_F 2 . -1 -1 . -1 . . . . . . . chr20 20818511 20818678 10000 1 PLK1S1_chr20_21105917_21107417_S 1 . -1 -1 . -1 . . . . . . . chr20 21106584 21106795 11000 2 PLK1S1_chr20_20801001_20801397_S:PLK1S1_chr20_20818318_20818741_S:PLK1S1_chr20_21115251_21116400_S 3 . -1 -1 . -1 . . . . . . . chr20 21106972 21107173 10000 1 PLK1S1_chr20_20801001_20801397_S:PLK1S1_chr20_20818318_20818741_S:PLK1S1_chr20_21115251_21116400_S 3 . -1 -1 . -1 . . . . . . . chr20 21283862 21283985 11101 1 XRN2_chr20_21115251_21116400_S 1 . -1 -1 . -1 . . . . . . . chr20 21284343 21284599 11101 3 XRN2_chr20_21115251_21116400_S 1 . -1 -1 . -1 . . . . . . . chr20 22487938 22488175 11101 3 FOXA2_chr20_22563256_22566284_S:GZF1_chr20_23341783_23343762_S 2 . -1 -1 . -1 . . . . . . . chr20 22505800 22506072 10000 4 FOXA2_chr20_22563256_22566284_S:GZF1_chr20_23341783_23343762_S 2 . -1 -1 . -1 . . . . . . . chr20 22563870 22564075 11000 1 FOXA2_chr20_22487804_22489170_S:FOXA2_chr20_22505800_22506236_S:FOXA2_chr20_22514262_22515631_S 3 . -1 -1 . -1 . . . . . . . chr20 22564864 22565131 11100 1 FOXA2_chr20_22487804_22489170_S:FOXA2_chr20_22505800_22506236_S:FOXA2_chr20_22514262_22515631_S 3 . -1 -1 . -1 . . . . . . . chr20 22565895 22566284 11100 4 FOXA2_chr20_22487804_22489170_S:FOXA2_chr20_22505800_22506236_S:FOXA2_chr20_22514262_22515631_S 3 . -1 -1 . -1 . . . . . . . chr20 23341885 23342067 11001 1 GZF1_chr20_22487804_22489170_S:GZF1_chr20_22505800_22506236_S:GZF1_chr20_23639121_23640400_S 3 . -1 -1 . -1 . . . . . . . chr20 23342474 23342782 11101 2 GZF1_chr20_22487804_22489170_S:GZF1_chr20_22505800_22506236_S:GZF1_chr20_23639121_23640400_S 3 . -1 -1 . -1 . . . . . . . chr20 24932355 24932543 10000 1 CST7_chr20_24929365_24932723_F:CST7_chr20_24932425_24932619_F 2 . -1 -1 . -1 . . . . . . . chr20 25291070 25291235 10000 2 ABHD12_chr20_25203654_25204239_S:ABHD12_chr20_25487936_25489718_S 2 . -1 -1 . -1 . . . . . . . chr20 25319090 25319325 10000 2 NANP_chr20_25603524_25605493_S:ZNF337_chr20_25676467_25677861_S 2 . -1 -1 . -1 . . . . . . . chr20 25488740 25489016 11000 2 ABHD12_chr20_25290000_25291472_S:ABHD12_chr20_25370361_25371944_S:NANP_chr20_25603524_25605493_S:ZNF337_chr20_25676467_25677861_S 4 . -1 -1 . -1 . . . . . . . chr20 25604316 25604741 10000 1 NANP_chr20_25318727_25320000_S:NANP_chr20_25487936_25489718_S 2 . -1 -1 . -1 . . . . . . . chr20 25677511 25677726 10000 1 ZNF337_chr20_25318727_25320000_S:ZNF337_chr20_25487936_25489718_S 2 . -1 -1 . -1 . . . . . . . chr20 29611864 29612031 00000 1 FRG1B_chr20_30157115_30158524_S:FRG1B_chr20_30283800_30288494_S:FRG1B_chr20_30292000_30295162_S:FRG1B_chr20_30300400_30300600_S 4 . -1 -1 . -1 . . . . . . . chr20 29612392 29612400 00000 1 FRG1B_chr20_30157115_30158524_S:FRG1B_chr20_30283800_30288494_S:FRG1B_chr20_30292000_30295162_S:FRG1B_chr20_30300400_30300600_S 4 . -1 -1 . -1 . . . . . . . chr20 30102157 30102383 11101 2 HM13_chr20_30104625_30104737_F:HM13_chr20_30105267_30105465_F:HM13_chr20_30157115_30158524_S:HM13_chr20_30251183_30253400_S:HM13_chr20_30283800_30288494_S:HM13_chr20_30292000_30295162_S:HM13_chr20_30300400_30300600_S 7 . -1 -1 . -1 . . . . . . . chr20 30105282 30105466 11000 1 HM13_chr20_30101740_30105567_F:HM13_chr20_30105267_30105465_F 2 . -1 -1 . -1 . . . . . . . chr20 30158066 30158197 11100 1 ASXL1_chr20_30955000_30955772_S:ASXL1_chr20_30956127_30956200_S:BCL2L1_chr20_30309600_30312153_S:DEFB116_chr20_29901171_29901311_S:ENSG00000233293_chr20_31149723_31150653_S:ENSG00000239109_chr20_30877000_30878055_S:FRG1B_chr20_29611400_29612400_S:HM13-AS1_chr20_30160145_30162400_S:HM13_chr20_30102005_30103102_S:HM13_chr20_30134631_30135446_S:ID1_chr20_30191776_30193200_S:PDRG1_chr20_30539225_30539986_S 12 . -1 -1 . -1 . . . . . . . chr20 30160556 30161154 11100 2 HM13-AS1_chr20_30157115_30158524_S:HM13-AS1_chr20_30251183_30253400_S:HM13-AS1_chr20_30283800_30288494_S:HM13-AS1_chr20_30292000_30295162_S:HM13-AS1_chr20_30300400_30300600_S:HM13-AS1_chr20_31127000_31129400_S 6 . -1 -1 . -1 . . . . . . . chr20 30162227 30162337 10000 1 HM13-AS1_chr20_30157115_30158524_S:HM13-AS1_chr20_30251183_30253400_S:HM13-AS1_chr20_30283800_30288494_S:HM13-AS1_chr20_30292000_30295162_S:HM13-AS1_chr20_30300400_30300600_S:HM13-AS1_chr20_31127000_31129400_S 6 . -1 -1 . -1 . . . . . . . chr20 30192892 30193021 11100 1 ID1_chr20_30157115_30158524_S:ID1_chr20_30190743_30190994_F:ID1_chr20_30191850_30192346_F:ID1_chr20_30196293_30196740_F:ID1_chr20_30251183_30253400_S:ID1_chr20_30283800_30288494_S:ID1_chr20_30292000_30295162_S:ID1_chr20_30300400_30300600_S 8 . -1 -1 . -1 . . . . . . . chr20 30195138 30195248 00000 1 ID1_chr20_30196293_30196740_F 1 . -1 -1 . -1 . . . . . . . chr20 30195520 30195785 00000 1 ID1_chr20_30196293_30196740_F 1 . -1 -1 . -1 . . . . . . . chr20 30196345 30196686 11101 3 ID1_chr20_30192585_30196717_F:ID1_chr20_30196293_30196740_F 2 . -1 -1 . -1 . . . . . . . chr20 30252169 30252363 11000 3 ASXL1_chr20_30945125_30947200_S:BCL2L1_chr20_30309600_30312153_S:HM13-AS1_chr20_30160145_30162400_S:HM13_chr20_30102005_30103102_S:HM13_chr20_30134631_30135446_S:HM13_chr20_30136651_30136855_S:ID1_chr20_30191776_30193200_S 7 . -1 -1 . -1 . . . . . . . chr20 30284046 30284385 11101 4 ASXL1_chr20_30945125_30947200_S:BCL2L1_chr20_30309600_30312153_S:ENSG00000233293_chr20_31149723_31150653_S:ENSG00000239109_chr20_30877000_30878055_S:FRG1B_chr20_29611400_29612400_S:HM13-AS1_chr20_30160145_30162400_S:HM13_chr20_30102005_30103102_S:HM13_chr20_30134631_30135446_S:HM13_chr20_30136651_30136855_S:ID1_chr20_30191776_30193200_S:PDRG1_chr20_30539225_30539986_S:TPX2_chr20_30326452_30327626_S 12 . -1 -1 . -1 . . . . . . . chr20 30285010 30285269 11000 1 ASXL1_chr20_30945125_30947200_S:BCL2L1_chr20_30309600_30312153_S:ENSG00000233293_chr20_31149723_31150653_S:ENSG00000239109_chr20_30877000_30878055_S:FRG1B_chr20_29611400_29612400_S:HM13-AS1_chr20_30160145_30162400_S:HM13_chr20_30102005_30103102_S:HM13_chr20_30134631_30135446_S:HM13_chr20_30136651_30136855_S:ID1_chr20_30191776_30193200_S:PDRG1_chr20_30539225_30539986_S:TPX2_chr20_30326452_30327626_S 12 . -1 -1 . -1 . . . . . . . chr20 30286688 30286898 11000 1 ASXL1_chr20_30945125_30947200_S:BCL2L1_chr20_30309600_30312153_S:ENSG00000233293_chr20_31149723_31150653_S:ENSG00000239109_chr20_30877000_30878055_S:FRG1B_chr20_29611400_29612400_S:HM13-AS1_chr20_30160145_30162400_S:HM13_chr20_30102005_30103102_S:HM13_chr20_30134631_30135446_S:HM13_chr20_30136651_30136855_S:ID1_chr20_30191776_30193200_S:PDRG1_chr20_30539225_30539986_S:TPX2_chr20_30326452_30327626_S 12 . -1 -1 . -1 . . . . . . . chr20 30292473 30292822 11101 3 BCL2L1_chr20_30309600_30312153_S:ENSG00000233293_chr20_31149723_31150653_S:ENSG00000239109_chr20_30877000_30878055_S:FRG1B_chr20_29611400_29612400_S:HM13-AS1_chr20_30160145_30162400_S:HM13_chr20_30102005_30103102_S:HM13_chr20_30134631_30135446_S:HM13_chr20_30136651_30136855_S:ID1_chr20_30191776_30193200_S:PDRG1_chr20_30539225_30539986_S 10 . -1 -1 . -1 . . . . . . . chr20 30294605 30294852 11100 3 BCL2L1_chr20_30309600_30312153_S:ENSG00000233293_chr20_31149723_31150653_S:ENSG00000239109_chr20_30877000_30878055_S:FRG1B_chr20_29611400_29612400_S:HM13-AS1_chr20_30160145_30162400_S:HM13_chr20_30102005_30103102_S:HM13_chr20_30134631_30135446_S:HM13_chr20_30136651_30136855_S:ID1_chr20_30191776_30193200_S:PDRG1_chr20_30539225_30539986_S 10 . -1 -1 . -1 . . . . . . . chr20 30310690 30310800 10000 1 BCL2L1_chr20_30157115_30158524_S:BCL2L1_chr20_30159203_30159295_S:BCL2L1_chr20_30222330_30222503_S:BCL2L1_chr20_30251183_30253400_S:BCL2L1_chr20_30267400_30267600_S:BCL2L1_chr20_30283800_30288494_S:BCL2L1_chr20_30288666_30288800_S:BCL2L1_chr20_30292000_30295162_S:BCL2L1_chr20_30300400_30300600_S:BCL2L1_chr20_30798175_30798293_S:BCL2L1_chr20_30913541_30914593_S:BCL2L1_chr20_30954800_30955000_S:BCL2L1_chr20_30956200_30956374_S:BCL2L1_chr20_31059925_31060200_S:BCL2L1_chr20_31064800_31065334_S:BCL2L1_chr20_31127000_31129400_S 16 . -1 -1 . -1 . . . . . . . chr20 30326820 30326948 10000 1 TPX2_chr20_30283800_30288494_S 1 . -1 -1 . -1 . . . . . . . chr20 30699255 30699385 10000 1 TM9SF4_chr20_30699679_30699866_F:TM9SF4_chr20_30700574_30701059_F 2 . -1 -1 . -1 . . . . . . . chr20 30699379 30699385 10000 1 TM9SF4_chr20_30696808_30699973_F 1 . -1 -1 . -1 . . . . . . . chr20 30795522 30795719 10101 1 PLAGL2_chr20_30793004_30793191_F:PLAGL2_chr20_30793339_30793589_F 2 . -1 -1 . -1 . . . . . . . chr20 30795976 30796046 10100 2 PLAGL2_chr20_30793004_30793191_F:PLAGL2_chr20_30793339_30793589_F 2 . -1 -1 . -1 . . . . . . . chr20 30877510 30877728 11000 4 ENSG00000239109_chr20_30157115_30158524_S:ENSG00000239109_chr20_30283800_30288494_S:ENSG00000239109_chr20_30292000_30295162_S:ENSG00000239109_chr20_30300400_30300600_S 4 . -1 -1 . -1 . . . . . . . chr20 30913541 30913902 10000 2 BCL2L1_chr20_30309600_30312153_S 1 . -1 -1 . -1 . . . . . . . chr20 30945240 30945511 11100 1 ASXL1_chr20_30251183_30253400_S:ASXL1_chr20_30283800_30288494_S:ASXL1_chr20_30300400_30300600_S 3 . -1 -1 . -1 . . . . . . . chr20 30945756 30946371 11100 1 ASXL1_chr20_30251183_30253400_S:ASXL1_chr20_30283800_30288494_S:ASXL1_chr20_30300400_30300600_S 3 . -1 -1 . -1 . . . . . . . chr20 30955062 30955241 10000 1 ASXL1_chr20_30157115_30158524_S:ASXL1_chr20_30300400_30300600_S 2 . -1 -1 . -1 . . . . . . . chr20 30956282 30956374 10000 1 BCL2L1_chr20_30309600_30312153_S 1 . -1 -1 . -1 . . . . . . . chr20 31240598 31240848 10101 2 C20orf203_chr20_31886819_31887025_S 1 . -1 -1 . -1 . . . . . . . chr20 31595322 31595554 11000 1 BPIFB2_chr20_31059925_31060200_S:BPIFB2_chr20_31127000_31129400_S:BPIFB2_chr20_31960828_31962700_S:BPIL1_chr20_31597104_31597733_F 4 . -1 -1 . -1 . . . . . . . chr20 31960982 31961232 10000 1 BPIFB2_chr20_31593377_31597957_S 1 . -1 -1 . -1 . . . . . . . chr20 31961577 31961820 11000 2 BPIFB2_chr20_31593377_31597957_S 1 . -1 -1 . -1 . . . . . . . chr20 32262200 32262422 11100 1 NECAB3_chr20_33113400_33114685_S 1 . -1 -1 . -1 . . . . . . . chr20 32398840 32399081 11101 2 CHMP4B_chr20_32400902_32401106_F 1 . -1 -1 . -1 . . . . . . . chr20 32400075 32400250 11100 2 CHMP4B_chr20_32400902_32401106_F 1 . -1 -1 . -1 . . . . . . . chr20 32401012 32401205 11000 2 CHMP4B_chr20_32400902_32401106_F 1 . -1 -1 . -1 . . . . . . . chr20 32401012 32401269 11000 2 CHMP4B_chr20_32398609_32401205_F 1 . -1 -1 . -1 . . . . . . . chr20 32699007 32699204 10000 1 EIF2S2_chr20_33113400_33114685_S 1 . -1 -1 . -1 . . . . . . . chr20 32699927 32700375 10000 3 EIF2S2_chr20_33113400_33114685_S 1 . -1 -1 . -1 . . . . . . . chr20 32890762 32891424 10000 3 AHCY_chr20_33113400_33114685_S 1 chr20 32891110 32891111 CR096336 - 3 FP rs57344541 AHCY Reduced transcription CAGTTCCTGTTCCCAGACTGAGGCCCAGCC[C/T]CCTTCGCCCGTTTCCATCACGAGTGCCGCC 19619139 chr20 32900603 32900800 10000 1 AHCY_chr20_32717200_32717616_S 1 . -1 -1 . -1 . . . . . . . chr20 33103681 33103810 10101 1 DYNLRB1_chr20_33113400_33114685_S 1 . -1 -1 . -1 . . . . . . . chr20 33113636 33114129 10000 2 AHCY_chr20_32890137_32891483_S:DYNLRB1_chr20_33103124_33104970_S:EIF2S2_chr20_32698816_32700881_S:ENSG00000206582_chr20_33113200_33113400_S:MMP24-AS1_chr20_33870473_33870565_S:NECAB3_chr20_32259000_32259693_S:NECAB3_chr20_32259995_32260244_S:NECAB3_chr20_32260530_32262953_S:TRPC4AP_chr20_33679566_33681203_S 9 . -1 -1 . -1 . . . . . . . chr20 33680890 33681089 10101 1 TRPC4AP_chr20_33113400_33114685_S 1 . -1 -1 . -1 . . . . . . . chr20 33734877 33735286 11101 2 EDEM2_chr20_33735973_33736225_F 1 . -1 -1 . -1 . . . . . . . chr20 34207289 34207527 11000 1 SPAG4_chr20_34770065_34771791_S 1 . -1 -1 . -1 . . . . . . . chr20 34330164 34330448 11000 2 RBM39_chr20_34330989_34331372_F:RBM39_chr20_35236200_35236913_S 2 . -1 -1 . -1 . . . . . . . chr20 34357028 34357246 10000 1 PHF20_chr20_34356129_34356371_F 1 . -1 -1 . -1 . . . . . . . chr20 34359717 34359941 10000 2 PHF20_chr20_34356129_34356371_F:PHF20_chr20_35236200_35236913_S 2 . -1 -1 . -1 . . . . . . . chr20 34542196 34542684 11101 1 SCAND1_chr20_34770065_34771791_S:SCAND1_chr20_35236200_35236913_S 2 . -1 -1 . -1 . . . . . . . chr20 34824293 34824445 11101 1 AAR2_chr20_35236200_35236913_S 1 . -1 -1 . -1 . . . . . . . chr20 35233923 35234107 11101 1 C20orf24_chr20_34770065_34771791_S:C20orf24_chr20_35236200_35236913_S:C20orf24_chr20_36008600_36009600_S:C20orf24_chr20_36026795_36028144_S 4 . -1 -1 . -1 . . . . . . . chr20 35235270 35235473 11101 1 C20orf24_chr20_34770065_34771791_S:C20orf24_chr20_35236200_35236913_S:C20orf24_chr20_36008600_36009600_S:C20orf24_chr20_36026795_36028144_S 4 . -1 -1 . -1 . . . . . . . chr20 35236410 35236671 10000 1 AAR2_chr20_34823789_34825000_S:C20orf24_chr20_35233639_35235571_S:DSN1_chr20_35401539_35402985_S:MANBAL_chr20_35917650_35918784_S:MROH8_chr20_35806444_35808824_S:NDRG3_chr20_35373770_35374932_S:PHF20_chr20_34359400_34360677_S:RBM39_chr20_34329600_34331531_S:ROMO1_chr20_34285785_34288000_S:SCAND1_chr20_34540722_34543137_S:SOGA1_chr20_35490219_35491172_S:SRC_chr20_35975033_35975125_S:SRC_chr20_35976204_35976856_S 13 . -1 -1 . -1 . . . . . . . chr20 35374555 35374665 10000 1 NDRG3_chr20_35236200_35236913_S 1 . -1 -1 . -1 . . . . . . . chr20 35806698 35806803 10001 1 MROH8_chr20_35236200_35236913_S:MROH8_chr20_36026795_36028144_S:MROH8_chr20_36525405_36525742_S:MROH8_chr20_36530853_36532013_S 4 . -1 -1 . -1 . . . . . . . chr20 35808175 35808396 11100 1 MROH8_chr20_35236200_35236913_S:MROH8_chr20_36026795_36028144_S:MROH8_chr20_36525405_36525742_S:MROH8_chr20_36530853_36532013_S 4 . -1 -1 . -1 . . . . . . . chr20 36008828 36008999 11000 2 C20orf24_chr20_35233639_35235571_S:DSN1_chr20_35401539_35402985_S:MANBAL_chr20_35917650_35918784_S:NNAT_chr20_36153200_36153285_S:SOGA1_chr20_35489219_35489615_S:SOGA1_chr20_35489733_35489908_S:SOGA1_chr20_35490219_35491172_S:SRC_chr20_35975033_35975125_S:SRC_chr20_35976204_35976856_S 9 . -1 -1 . -1 . . . . . . . chr20 36027760 36027915 11000 3 C20orf24_chr20_35233639_35235571_S:DSN1_chr20_35401539_35402985_S:MROH8_chr20_35806444_35808824_S 3 . -1 -1 . -1 . . . . . . . chr20 36133759 36133974 10000 1 SNHG17_chr20_37062888_37064415_S 1 . -1 -1 . -1 . . . . . . . chr20 36154943 36155128 11100 1 BLCAP_chr20_36154614_36156583_F:BLCAP_chr20_36154614_36156634_F:BLCAP_chr20_36154614_36156833_F:BLCAP_chr20_36154671_36154957_F:BLCAP_chr20_36154671_36154957_F:BLCAP_chr20_36154671_36154957_F 6 . -1 -1 . -1 . . . . . . . chr20 36156285 36156583 11101 2 BLCAP_chr20_36154671_36154957_F 1 . -1 -1 . -1 . . . . . . . chr20 36156285 36156634 11101 2 BLCAP_chr20_36154671_36154957_F 1 . -1 -1 . -1 . . . . . . . chr20 36156285 36156796 11101 2 BLCAP_chr20_36154671_36154957_F 1 . -1 -1 . -1 . . . . . . . chr20 36612570 36612823 11000 1 SNHG11_chr20_37075017_37076308_S:SNHG17_chr20_37062888_37064415_S 2 . -1 -1 . -1 . . . . . . . chr20 36711367 36711570 11000 1 SNHG11_chr20_37075017_37076308_S:SNHG17_chr20_37062888_37064415_S 2 . -1 -1 . -1 . . . . . . . chr20 36722824 36722984 10100 1 SNHG11_chr20_37075017_37076308_S:SNHG17_chr20_37062888_37064415_S 2 . -1 -1 . -1 . . . . . . . chr20 36919400 36919785 11000 2 SNHG17_chr20_37062888_37064415_S 1 . -1 -1 . -1 . . . . . . . chr20 37063994 37064117 11100 1 SNHG17_chr20_36133573_36134000_S:SNHG17_chr20_36530853_36532013_S:SNHG17_chr20_36612168_36613330_S:SNHG17_chr20_36667125_36667259_S:SNHG17_chr20_36711200_36711570_S:SNHG17_chr20_36721884_36723016_S:SNHG17_chr20_36753200_36753657_S:SNHG17_chr20_36919400_36919785_S:SNHG17_chr20_37274600_37274879_S:SNHG17_chr20_37275063_37275400_S:SNHG17_chr20_37542025_37543236_S:SNHG17_chr20_37628402_37629800_S:SNHG17_chr20_37642400_37642741_S 13 . -1 -1 . -1 . . . . . . . chr20 37101216 37101335 11101 1 RALGAPB_chr20_37542025_37543236_S 1 . -1 -1 . -1 . . . . . . . chr20 37542341 37542631 10000 3 FAM83D_chr20_37554405_37555963_S:RALGAPB_chr20_37100983_37102179_S:SNHG11_chr20_37075017_37076308_S:SNHG17_chr20_37062888_37064415_S 4 . -1 -1 . -1 . . . . . . . chr20 37554786 37554985 10000 1 FAM83D_chr20_37542025_37543236_S 1 . -1 -1 . -1 . . . . . . . chr20 37642400 37642532 10000 1 SNHG11_chr20_37075017_37076308_S:SNHG17_chr20_37062888_37064415_S 2 . -1 -1 . -1 . . . . . . . chr20 39657150 39657644 00000 3 TOP1_chr20_39769400_39770400_S:TOP1_chr20_39778304_39778753_S:TOP1_chr20_40125800_40126400_S 3 . -1 -1 . -1 . . . . . . . chr20 40125817 40126132 11000 3 TOP1_chr20_39656907_39658521_S 1 . -1 -1 . -1 . . . . . . . chr20 42176140 42176467 10100 1 ENSG00000229005_chr20_43022575_43024749_S:SGK2_chr20_42186044_42187865_S:SRSF6_chr20_42085741_42087508_S 3 . -1 -1 . -1 . . . . . . . chr20 42186296 42186767 11101 3 SGK2_chr20_42176018_42176800_S:SGK2_chr20_43038684_43041882_S 2 . -1 -1 . -1 . . . . . . . chr20 42187500 42187735 11101 1 SGK2_chr20_42176018_42176800_S:SGK2_chr20_42189975_42190335_F:SGK2_chr20_43038684_43041882_S 3 . -1 -1 . -1 . . . . . . . chr20 42188275 42188509 10000 1 SGK2_chr20_42189975_42190335_F 1 . -1 -1 . -1 . . . . . . . chr20 42188996 42189505 11000 3 SGK2_chr20_42189975_42190335_F 1 . -1 -1 . -1 . . . . . . . chr20 42839570 42839721 11101 3 OSER1_chr20_43038684_43041882_S 1 . -1 -1 . -1 . . . . . . . chr20 42984001 42984388 10101 3 HNF4A_chr20_43038684_43041882_S 1 chr20 42984253 42984254 CR062117 + 3 DM NULL HNF4A Diabetes: MODY1 AGACAGCAACAGTCCCCAGCCGCGGGTTCC[C/G]TAAGTGACTGGTTACTCTTTAACGTATCCA 16731855 chr20 42984001 42984388 10101 3 HNF4A_chr20_43038684_43041882_S 1 chr20 42984264 42984265 CR022281 + 3 DM NULL HNF4A Diabetes: MODY1 GTCCCCAGCCGCGGGTTCCCTAAGTGACTG[G/A]TTACTCTTTAACGTATCCACCCACCTTGGG 12235114 chr20 42984001 42984388 10101 3 HNF4A_chr20_43038684_43041882_S 1 chr20 42984271 42984272 CR133305 + 3 DM NULL HNF4A Diabetes: MODY GCCGCGGGTTCCCTAAGTGACTGGTTACTC[T/C]TTAACGTATCCACCCACCTTGGGTGATTAG 23348805 chr20 42984001 42984388 10101 3 HNF4A_chr20_43038684_43041882_S 1 chr20 42984276 42984277 CR103903 + 3 DM NULL HNF4A Diabetes GGGTTCCCTAAGTGACTGGTTACTCTTTAA[C/T]GTATCCACCCACCTTGGGTGATTAGAAGAA 20546279 chr20 42984001 42984388 10101 3 HNF4A_chr20_43038684_43041882_S 1 chr20 42984299 42984300 CR013122 + 3 DM NULL HNF4A Diabetes: MODY1 TCTTTAACGTATCCACCCACCTTGGGTGAT[T/C]AGAAGAATCAATAAGATAACCGGGCGGTGG 11590126 chr20 42984001 42984388 10101 3 HNF4A_chr20_43038684_43041882_S 1 chr20 42984309 42984310 CR103902 + 3 DM NULL HNF4A Diabetes ATCCACCCACCTTGGGTGATTAGAAGAATC[A/G]ATAAGATAACCGGGCGGTGGCAGCTGGCCG 20546279 chr20 42984001 42984388 10101 3 HNF4A_chr20_43038684_43041882_S 1 chr20 42984316 42984317 CR119351 + 3 DM? NULL HNF4A Diabetes: MODY CACCTTGGGTGATTAGAAGAATCAATAAGA[T/C]AACCGGGCGGTGGCAGCTGGCCGCACTCAC 21062274 chr20 42984001 42984388 10101 3 HNF4A_chr20_43038684_43041882_S 1 chr20 42984366 42984367 CR119352 + 3 DM? rs373143621 HNF4A Diabetes: MODY GCCGCACTCACCGCCTTCCTGGTGGACGGG[C/T]TCCTGGTGGCTGTGCTGCTGCTGTGAGCGG 21062274 chr20 43021814 43022051 11000 3 ENSG00000229005_chr20_43038684_43041882_S 1 . -1 -1 . -1 . . . . . . . chr20 43023143 43023530 11000 3 ENSG00000229005_chr20_42176018_42176800_S:ENSG00000229005_chr20_43038684_43041882_S:ENSG00000229005_chr20_43046726_43047400_S:ENSG00000229005_chr20_43056600_43057800_S 4 . -1 -1 . -1 . . . . . . . chr20 43024207 43024462 11000 1 ENSG00000229005_chr20_42176018_42176800_S:ENSG00000229005_chr20_43038684_43041882_S:ENSG00000229005_chr20_43046726_43047400_S:ENSG00000229005_chr20_43056600_43057800_S 4 . -1 -1 . -1 . . . . . . . chr20 43029777 43029927 11000 1 HNF4A_chr20_43038684_43041882_S 1 . -1 -1 . -1 . . . . . . . chr20 43038876 43039103 11100 3 ENSG00000229005_chr20_43021217_43022195_S:ENSG00000229005_chr20_43022575_43024749_S:HNF4A_chr20_42983448_42985259_S:HNF4A_chr20_43029636_43030400_S:OSER1_chr20_42838423_42840203_S:PABPC1L_chr20_43539910_43540435_S:SGK2_chr20_42186044_42187865_S:SRSF6_chr20_42085741_42087508_S:SRSF6_chr20_42087750_42087996_S:SRSF6_chr20_42088413_42088507_S:STK4_chr20_43594640_43595744_S:SYS1_chr20_43991395_43992411_S:TOMM34_chr20_43588320_43589349_S:TTPAL_chr20_43104240_43105206_S 14 . -1 -1 . -1 . . . . . . . chr20 43039889 43040146 11101 3 ENSG00000229005_chr20_43021217_43022195_S:ENSG00000229005_chr20_43022575_43024749_S:HNF4A_chr20_42983448_42985259_S:HNF4A_chr20_43029636_43030400_S:OSER1_chr20_42838423_42840203_S:PABPC1L_chr20_43539910_43540435_S:SGK2_chr20_42186044_42187865_S:SRSF6_chr20_42085741_42087508_S:SRSF6_chr20_42087750_42087996_S:SRSF6_chr20_42088413_42088507_S:STK4_chr20_43594640_43595744_S:SYS1_chr20_43991395_43992411_S:TOMM34_chr20_43588320_43589349_S:TTPAL_chr20_43104240_43105206_S 14 . -1 -1 . -1 . . . . . . . chr20 43043526 43043738 11101 1 SRSF6_chr20_42085741_42087508_S 1 . -1 -1 . -1 . . . . . . . chr20 43057272 43057454 11101 2 ENSG00000229005_chr20_43022575_43024749_S 1 . -1 -1 . -1 . . . . . . . chr20 43540159 43540419 10000 3 PABPC1L_chr20_43038684_43041882_S:PABPC1L_chr20_43538202_43540504_F:PABPC1L_chr20_43540233_43540373_F 3 . -1 -1 . -1 . . . . . . . chr20 43589046 43589186 11101 1 TOMM34_chr20_43038684_43041882_S 1 . -1 -1 . -1 . . . . . . . chr20 43594997 43595115 11100 1 STK4_chr20_43038684_43041882_S:STK4_chr20_43596220_43596403_F:STK4_chr20_43598276_43598454_F 3 . -1 -1 . -1 . . . . . . . chr20 43597426 43597544 10000 1 STK4_chr20_43598276_43598454_F 1 . -1 -1 . -1 . . . . . . . chr20 43972521 43973099 11101 4 SDC4_chr20_43972786_43977564_F 1 . -1 -1 . -1 . . . . . . . chr20 43972786 43973099 11101 4 SDC4_chr20_43972821_43973151_F 1 . -1 -1 . -1 . . . . . . . chr20 43973776 43973891 11001 1 SDC4_chr20_43972821_43973151_F 1 . -1 -1 . -1 . . . . . . . chr20 43976294 43976522 11000 1 SDC4_chr20_43972821_43973151_F 1 . -1 -1 . -1 . . . . . . . chr20 43976917 43977079 11100 1 SDC4_chr20_43972821_43973151_F 1 . -1 -1 . -1 . . . . . . . chr20 43991605 43991828 10100 1 SYS1_chr20_43038684_43041882_S:SYS1_chr20_43948445_43949088_S:SYS1_chr20_44555800_44556850_S:SYS1_chr20_44574516_44575700_S 4 . -1 -1 . -1 . . . . . . . chr20 44519785 44519995 11101 3 CTSA_chr20_43948445_43949088_S:CTSA_chr20_44452600_44453007_S:CTSA_chr20_44453138_44453400_S:CTSA_chr20_44555800_44556850_S:CTSA_chr20_44574516_44575700_S:CTSA_chr20_45235434_45237356_S:CTSA_chr20_45259770_45261074_S:CTSA_chr20_45266118_45267708_S:CTSA_chr20_45268800_45270235_S:CTSA_chr20_45295159_45296462_S:CTSA_chr20_45298855_45300503_S:CTSA_chr20_45309787_45310073_S 12 . -1 -1 . -1 . . . . . . . chr20 44555998 44556169 11000 1 CTSA_chr20_44518731_44520655_S:SYS1_chr20_43991395_43992411_S 2 . -1 -1 . -1 . . . . . . . chr20 44563842 44564064 11101 2 PCIF1_chr20_45235434_45237356_S 1 . -1 -1 . -1 . . . . . . . chr20 44575059 44575307 11001 2 CTSA_chr20_44518731_44520655_S:SYS1_chr20_43991395_43992411_S 2 . -1 -1 . -1 . . . . . . . chr20 44718528 44718738 10000 3 NCOA5_chr20_44642200_44642797_S:NCOA5_chr20_45235434_45237356_S 2 . -1 -1 . -1 . . . . . . . chr20 44992547 44992744 11100 1 SLC35C2_chr20_45235434_45237356_S 1 . -1 -1 . -1 . . . . . . . chr20 45235935 45236171 10000 1 CTSA_chr20_44518731_44520655_S:CTSA_chr20_44520847_44521232_S:NCOA3_chr20_46130043_46131329_S:NCOA5_chr20_44717652_44718885_S:PCIF1_chr20_44562243_44564318_S:SLC13A3_chr20_45279589_45280434_S:SLC35C2_chr20_44992266_44993392_S:ZMYND8_chr20_45985105_45988661_S:ZNF335_chr20_44599726_44601435_S:ZSWIM1_chr20_44509543_44510381_S 10 . -1 -1 . -1 . . . . . . . chr20 45236935 45237149 10000 2 CTSA_chr20_44518731_44520655_S:CTSA_chr20_44520847_44521232_S:NCOA3_chr20_46130043_46131329_S:NCOA5_chr20_44717652_44718885_S:PCIF1_chr20_44562243_44564318_S:SLC13A3_chr20_45279589_45280434_S:SLC35C2_chr20_44992266_44993392_S:ZMYND8_chr20_45985105_45988661_S:ZNF335_chr20_44599726_44601435_S:ZSWIM1_chr20_44509543_44510381_S 10 . -1 -1 . -1 . . . . . . . chr20 45269346 45269925 11000 3 CTSA_chr20_44518731_44520655_S 1 . -1 -1 . -1 . . . . . . . chr20 45295611 45296013 10000 2 CTSA_chr20_44518731_44520655_S 1 . -1 -1 . -1 . . . . . . . chr20 45299638 45299942 10000 4 CTSA_chr20_44518731_44520655_S 1 . -1 -1 . -1 . . . . . . . chr20 45862208 45862489 10000 2 NCOA3_chr20_46130043_46131329_S 1 . -1 -1 . -1 . . . . . . . chr20 45987824 45988538 10000 2 ZMYND8_chr20_45235434_45237356_S:ZMYND8_chr20_45259770_45261074_S:ZMYND8_chr20_46092855_46094158_S 3 . -1 -1 . -1 . . . . . . . chr20 46093242 46093491 11000 4 NCOA3_chr20_46130043_46131329_S:SLC2A10_chr20_45336833_45337200_S:ZMYND8_chr20_45985105_45988661_S 3 . -1 -1 . -1 . . . . . . . chr20 46130425 46130612 10000 1 NCOA3_chr20_45235434_45237356_S:NCOA3_chr20_45259770_45261074_S:NCOA3_chr20_45861400_45863340_S:NCOA3_chr20_46092855_46094158_S:NCOA3_chr20_47001388_47003175_S 5 . -1 -1 . -1 . . . . . . . chr20 47538161 47538302 10000 1 ARFGEF2_chr20_47903600_47904557_S 1 . -1 -1 . -1 . . . . . . . chr20 47803629 47803786 11000 1 STAU1_chr20_47803381_47804147_F:STAU1_chr20_47803564_47805404_F 2 . -1 -1 . -1 . . . . . . . chr20 47835732 47836024 11101 2 DDX27_chr20_47001388_47003175_S 1 . -1 -1 . -1 . . . . . . . chr20 47894982 47895145 11000 1 ZNFX1_chr20_47001388_47003175_S:ZNFX1_chr20_47668800_47669583_S:ZNFX1_chr20_47893075_47893400_F:ZNFX1_chr20_47903600_47904557_S:ZNFX1_chr20_48754737_48755984_S 5 . -1 -1 . -1 . . . . . . . chr20 48328194 48328347 11000 1 B4GALT5_chr20_48327368_48328064_F:B4GALT5_chr20_48327516_48330921_F 2 . -1 -1 . -1 . . . . . . . chr20 48388380 48388414 11000 1 CEBPB_chr20_48805445_48809096_S 1 . -1 -1 . -1 . . . . . . . chr20 48388897 48389244 11000 3 CEBPB_chr20_48805445_48809096_S 1 . -1 -1 . -1 . . . . . . . chr20 48526106 48526444 11100 2 CEBPB_chr20_48805445_48809096_S:DDX27_chr20_47833700_47834010_S 2 . -1 -1 . -1 . . . . . . . chr20 48532214 48532403 11000 1 SPATA2_chr20_47903600_47904557_S:SPATA2_chr20_48532841_48533167_F:SPATA2_chr20_48532841_48533167_F:SPATA2_chr20_48533898_48534043_F 4 . -1 -1 . -1 . . . . . . . chr20 48532945 48533205 10000 4 SPATA2_chr20_48532841_48533167_F:SPATA2_chr20_48532841_48533167_F 2 . -1 -1 . -1 . . . . . . . chr20 48532945 48533343 10000 4 SPATA2_chr20_47903600_47904557_S:SPATA2_chr20_48529775_48533205_F:SPATA2_chr20_48531579_48533205_F:SPATA2_chr20_48533898_48534043_F 4 . -1 -1 . -1 . . . . . . . chr20 48552687 48552966 10000 3 RNF114_chr20_47903600_47904557_S 1 chr20 48552879 48552880 CR123853 + 3 DM NULL RNF114 Psoriasis: susceptibility to CACCCGCTAGCCCCGCCCCCAACCGCTCAC[C/A]GCCCCGCGAGCCCCGCCCCCTCGGCCTCCT 22205304 chr20 48552687 48552966 10000 3 RNF114_chr20_47903600_47904557_S 1 chr20 48552881 48552882 CR123852 + 3 DM NULL RNF114 Psoriasis: susceptibility to CCCGCTAGCCCCGCCCCCAACCGCTCACCG[C/A]CCCGCGAGCCCCGCCCCCTCGGCCTCCTCC 22205304 chr20 48552687 48552966 10000 3 RNF114_chr20_47903600_47904557_S 1 chr20 48552904 48552905 CR123854 + 3 DM NULL RNF114 Psoriasis: susceptibility to CTCACCGCCCCGCGAGCCCCGCCCCCTCGG[C/T]CTCCTCCTCATCGGCCGCCGTTGCGCGGCG 22205304 chr20 48552687 48552966 10000 3 RNF114_chr20_47903600_47904557_S 1 chr20 48552936 48552937 CR123855 + 3 DM NULL RNF114 Psoriasis: susceptibility to TCCTCCTCATCGGCCGCCGTTGCGCGGCGC[A/C]GAGCGGCAGCAAGATGGCGGCGCAACAGCG 22205304 chr20 48553299 48553480 11000 1 RNF114_chr20_47903600_47904557_S 1 . -1 -1 . -1 . . . . . . . chr20 48754775 48755018 10000 2 CEBPB_chr20_48805445_48809096_S:ZNFX1_chr20_47893639_47895200_S 2 . -1 -1 . -1 . . . . . . . chr20 48755552 48755984 10000 1 CEBPB_chr20_48805445_48809096_S:ZNFX1_chr20_47893639_47895200_S 2 . -1 -1 . -1 . . . . . . . chr20 48804070 48804285 11001 2 CEBPB_chr20_48803978_48807620_F:CEBPB_chr20_48804007_48804349_F 2 . -1 -1 . -1 . . . . . . . chr20 48805585 48805945 11101 2 CEBPB_chr20_47903600_47904557_S:CEBPB_chr20_48388380_48389363_S:CEBPB_chr20_48526106_48526444_S:CEBPB_chr20_48562000_48562243_S:CEBPB_chr20_48562335_48563000_S:CEBPB_chr20_48754737_48755984_S:CEBPB_chr20_48804007_48804349_F:CEBPB_chr20_49022400_49023595_S:CEBPB_chr20_49252693_49254124_S:CEBPB_chr20_49362600_49363487_S:CEBPB_chr20_49404600_49405504_S 11 . -1 -1 . -1 . . . . . . . chr20 48806937 48807052 11101 1 CEBPB_chr20_47903600_47904557_S:CEBPB_chr20_48388380_48389363_S:CEBPB_chr20_48526106_48526444_S:CEBPB_chr20_48562000_48562243_S:CEBPB_chr20_48562335_48563000_S:CEBPB_chr20_48754737_48755984_S:CEBPB_chr20_48804007_48804349_F:CEBPB_chr20_48809447_48810205_F:CEBPB_chr20_48810888_48811172_F:CEBPB_chr20_49022400_49023595_S:CEBPB_chr20_49252693_49254124_S:CEBPB_chr20_49362600_49363487_S:CEBPB_chr20_49404600_49405504_S 13 . -1 -1 . -1 . . . . . . . chr20 48807271 48807494 11001 1 CEBPB_chr20_47903600_47904557_S:CEBPB_chr20_48388380_48389363_S:CEBPB_chr20_48526106_48526444_S:CEBPB_chr20_48562000_48562243_S:CEBPB_chr20_48562335_48563000_S:CEBPB_chr20_48754737_48755984_S:CEBPB_chr20_48804007_48804349_F:CEBPB_chr20_48809447_48810205_F:CEBPB_chr20_48810888_48811172_F:CEBPB_chr20_49022400_49023595_S:CEBPB_chr20_49252693_49254124_S:CEBPB_chr20_49362600_49363487_S:CEBPB_chr20_49404600_49405504_S 13 . -1 -1 . -1 . . . . . . . chr20 48808847 48809007 11101 2 CEBPB_chr20_47903600_47904557_S:CEBPB_chr20_48388380_48389363_S:CEBPB_chr20_48526106_48526444_S:CEBPB_chr20_48562000_48562243_S:CEBPB_chr20_48562335_48563000_S:CEBPB_chr20_48754737_48755984_S:CEBPB_chr20_48809447_48810205_F:CEBPB_chr20_48810888_48811172_F:CEBPB_chr20_49022400_49023595_S:CEBPB_chr20_49252693_49254124_S:CEBPB_chr20_49362600_49363487_S:CEBPB_chr20_49404600_49405504_S 12 . -1 -1 . -1 . . . . . . . chr20 48810668 48810813 11101 1 CEBPB_chr20_48806619_48811231_F:CEBPB_chr20_48810888_48811172_F 2 . -1 -1 . -1 . . . . . . . chr20 48895550 48895784 10000 2 ENSG00000224397_chr20_49279462_49280110_S 1 . -1 -1 . -1 . . . . . . . chr20 49022400 49022429 11000 3 CEBPB_chr20_48805445_48809096_S 1 . -1 -1 . -1 . . . . . . . chr20 49023386 49023563 10000 1 CEBPB_chr20_48805445_48809096_S 1 . -1 -1 . -1 . . . . . . . chr20 49279748 49280110 11000 3 COX6CP2_chr20_49094963_49095056_S:ENSG00000224397_chr20_48895550_48895943_S 2 . -1 -1 . -1 . . . . . . . chr20 49347628 49348130 11101 3 PARD6B_chr20_49345638_49345902_F 1 . -1 -1 . -1 . . . . . . . chr20 49362997 49363265 11000 2 CEBPB_chr20_48805445_48809096_S 1 . -1 -1 . -1 . . . . . . . chr20 49404644 49404812 10000 3 CEBPB_chr20_48805445_48809096_S 1 . -1 -1 . -1 . . . . . . . chr20 50180083 50180311 11000 2 NFATC2_chr20_50178667_50180639_F:NFATC2_chr20_50180369_50180507_F 2 . -1 -1 . -1 . . . . . . . chr20 50383680 50383812 10000 1 ATP9A_chr20_50383575_50384083_F:ATP9A_chr20_50383629_50385408_F 2 . -1 -1 . -1 . . . . . . . chr20 50384481 50384606 10000 1 ATP9A_chr20_50383575_50384083_F 1 . -1 -1 . -1 . . . . . . . chr20 50416821 50417049 10000 1 SALL4_chr20_50416543_50419548_F:SALL4_chr20_50416703_50416783_F:SALL4_chr20_50416874_50419548_F 3 . -1 -1 . -1 . . . . . . . chr20 50416874 50417049 10000 1 SALL4_chr20_50416861_50417288_F 1 . -1 -1 . -1 . . . . . . . chr20 50419051 50419218 10000 1 SALL4_chr20_50416703_50416783_F:SALL4_chr20_50416861_50417288_F 2 . -1 -1 . -1 . . . . . . . chr20 51588795 51589084 10000 3 TSHZ2_chr20_51591897_51592288_F 1 . -1 -1 . -1 . . . . . . . chr20 51590734 51590993 10100 2 TSHZ2_chr20_51591897_51592288_F 1 . -1 -1 . -1 . . . . . . . chr20 52195409 52196014 11000 4 ZNF217_chr20_52195328_52200136_F 1 . -1 -1 . -1 . . . . . . . chr20 52195409 52196466 11000 4 ZNF217_chr20_52195343_52195714_F 1 . -1 -1 . -1 . . . . . . . chr20 52195608 52196466 11000 4 ZNF217_chr20_52195981_52200136_F 1 . -1 -1 . -1 . . . . . . . chr20 52195981 52196466 11000 4 ZNF217_chr20_52195908_52196455_F 1 . -1 -1 . -1 . . . . . . . chr20 52196293 52196466 11000 4 ZNF217_chr20_52196527_52200136_F 1 . -1 -1 . -1 . . . . . . . chr20 52199621 52199758 10000 1 PFDN4_chr20_52824129_52825491_S:ZNF217_chr20_52195343_52195714_F:ZNF217_chr20_52195908_52196455_F:ZNF217_chr20_52196593_52196861_F:ZNF217_chr20_52197853_52198800_S:ZNF217_chr20_52201463_52201802_F 6 . -1 -1 . -1 . . . . . . . chr20 52380397 52380831 11000 4 PFDN4_chr20_52824129_52825491_S:ZNF217_chr20_52209005_52210923_S 2 . -1 -1 . -1 . . . . . . . chr20 52824426 52824536 10100 1 PFDN4_chr20_52198800_52200600_S:PFDN4_chr20_52379764_52381225_S 2 . -1 -1 . -1 . . . . . . . chr20 54935478 54935640 11000 1 C20orf108_chr20_54937921_54938113_F 1 . -1 -1 . -1 . . . . . . . chr20 54984734 54984910 11000 2 CASS4_chr20_54984612_54987668_F:CASS4_chr20_54984612_54987814_F:CASS4_chr20_54984681_54984944_F:CASS4_chr20_54984681_54984944_F 4 . -1 -1 . -1 . . . . . . . chr20 54986955 54987551 11100 2 CASS4_chr20_54984681_54984944_F:CASS4_chr20_54984681_54984944_F 2 . -1 -1 . -1 . . . . . . . chr20 60639351 60639481 11100 1 TAF4_chr20_61283424_61284400_S 1 . -1 -1 . -1 . . . . . . . chr20 60697177 60697342 11000 2 LSM14B_chr20_60730233_60731283_S:LSM14B_chr20_60928400_60929391_S:LSM14B_chr20_61283023_61283307_S:LSM14B_chr20_61283424_61284400_S:LSM14B_chr20_61454309_61454600_S:LSM14B_chr20_61531800_61532000_S 6 . -1 -1 . -1 . . . . . . . chr20 60717103 60717310 10000 1 PSMA7_chr20_61283424_61284400_S:PSMA7_chr20_61454309_61454600_S:PSMA7_chr20_61531800_61532000_S 3 . -1 -1 . -1 . . . . . . . chr20 60730440 60730635 11000 2 ADRM1_chr20_60876896_60878800_S:DIDO1_chr20_61556720_61558579_S:LSM14B_chr20_60696457_60698518_S:RPS21_chr20_60961004_60963263_S 4 . -1 -1 . -1 . . . . . . . chr20 60813168 60813397 11101 3 OSBPL2_chr20_61283424_61284400_S:OSBPL2_chr20_61454309_61454600_S 2 . -1 -1 . -1 . . . . . . . chr20 60876937 60877227 11000 2 ADRM1_chr20_60730233_60731283_S:ADRM1_chr20_60731375_60731400_S:ADRM1_chr20_60784767_60785753_S:ADRM1_chr20_60928400_60929391_S:ADRM1_chr20_61283023_61283307_S:ADRM1_chr20_61283424_61284400_S:ADRM1_chr20_61454309_61454600_S:ADRM1_chr20_61531800_61532000_S:ADRM1_chr20_61640200_61640506_S:ADRM1_chr20_61640673_61642157_S 10 . -1 -1 . -1 . . . . . . . chr20 60877826 60877953 10000 1 ADRM1_chr20_60730233_60731283_S:ADRM1_chr20_60731375_60731400_S:ADRM1_chr20_60784767_60785753_S:ADRM1_chr20_60928400_60929391_S:ADRM1_chr20_61283023_61283307_S:ADRM1_chr20_61283424_61284400_S:ADRM1_chr20_61454309_61454600_S:ADRM1_chr20_61531800_61532000_S:ADRM1_chr20_61640200_61640506_S:ADRM1_chr20_61640673_61642157_S 10 . -1 -1 . -1 . . . . . . . chr20 60928685 60928797 10000 1 ADRM1_chr20_60876896_60878800_S:DIDO1_chr20_61556720_61558579_S:LSM14B_chr20_60696457_60698518_S:RPS21_chr20_60961004_60963263_S 4 . -1 -1 . -1 . . . . . . . chr20 60941716 60941841 10000 1 LAMA5_chr20_60939635_60939778_F:LAMA5_chr20_60940876_60941209_F:LAMA5_chr20_60941439_60942868_F:LAMA5_chr20_60941528_60941750_F:LAMA5_chr20_61283424_61284400_S 5 . -1 -1 . -1 . . . . . . . chr20 60943665 60943867 10000 1 LAMA5_chr20_61283424_61284400_S 1 . -1 -1 . -1 . . . . . . . chr20 60944188 60944361 10100 1 LAMA5_chr20_61283424_61284400_S 1 . -1 -1 . -1 . . . . . . . chr20 61283486 61283710 10000 2 ADRM1_chr20_60876896_60878800_S:DIDO1_chr20_61545861_61546128_S:DIDO1_chr20_61546220_61546781_S:DIDO1_chr20_61555345_61556628_S:DIDO1_chr20_61556720_61558579_S:DIDO1_chr20_61567418_61567518_S:DIDO1_chr20_61568108_61570424_S:GMEB2_chr20_62257320_62260023_S:LAMA5_chr20_60941104_60944566_S:LSM14B_chr20_60696457_60698518_S:LSM14B_chr20_60698979_60699200_S:MRGBP_chr20_61428973_61429200_S:NKAIN4_chr20_61903435_61905514_S:NKAIN4_chr20_61906169_61906441_S:OGFR_chr20_61436824_61437816_S:OGFR_chr20_61438237_61438600_S:OSBPL2_chr20_60813013_60814845_S:PSMA7_chr20_60716000_60716173_S:PSMA7_chr20_60716265_60716676_S:PSMA7_chr20_60716862_60717433_S:PSMA7_chr20_60717525_60719043_S:RPS21_chr20_60961004_60963263_S:SLC17A9_chr20_61583633_61586376_S:SLCO4A1_chr20_61297480_61299367_S:TAF4_chr20_60639199_60639598_S:YTHDF1_chr20_61846442_61848143_S 26 . -1 -1 . -1 . . . . . . . chr20 61284093 61284243 10000 1 ADRM1_chr20_60876896_60878800_S:DIDO1_chr20_61545861_61546128_S:DIDO1_chr20_61546220_61546781_S:DIDO1_chr20_61555345_61556628_S:DIDO1_chr20_61556720_61558579_S:DIDO1_chr20_61567418_61567518_S:DIDO1_chr20_61568108_61570424_S:GMEB2_chr20_62257320_62260023_S:LAMA5_chr20_60941104_60944566_S:LSM14B_chr20_60696457_60698518_S:LSM14B_chr20_60698979_60699200_S:MRGBP_chr20_61428973_61429200_S:NKAIN4_chr20_61903435_61905514_S:NKAIN4_chr20_61906169_61906441_S:OGFR_chr20_61436824_61437816_S:OGFR_chr20_61438237_61438600_S:OSBPL2_chr20_60813013_60814845_S:PSMA7_chr20_60716000_60716173_S:PSMA7_chr20_60716265_60716676_S:PSMA7_chr20_60716862_60717433_S:PSMA7_chr20_60717525_60719043_S:RPS21_chr20_60961004_60963263_S:SLC17A9_chr20_61583633_61586376_S:SLCO4A1_chr20_61297480_61299367_S:TAF4_chr20_60639199_60639598_S:YTHDF1_chr20_61846442_61848143_S 26 . -1 -1 . -1 . . . . . . . chr20 61437271 61437816 11000 3 OGFR_chr20_61283424_61284400_S:OGFR_chr20_61531800_61532000_S:OGFR_chr20_62365626_62368200_S 3 . -1 -1 . -1 . . . . . . . chr20 61454309 61454362 10000 1 ADRM1_chr20_60876896_60878800_S:ARFRP1_chr20_62338183_62340317_S:DIDO1_chr20_61556720_61558579_S:GMEB2_chr20_62257320_62260023_S:LSM14B_chr20_60696457_60698518_S:OSBPL2_chr20_60813013_60814845_S:PSMA7_chr20_60716862_60717433_S:PSMA7_chr20_60717525_60719043_S:SLC2A4RG_chr20_62368200_62373130_S:SLCO4A1_chr20_61297480_61299367_S:SLCO4A1_chr20_61299830_61300648_S:YTHDF1_chr20_61846442_61848143_S 12 . -1 -1 . -1 . . . . . . . chr20 61531977 61532000 10000 1 ADRM1_chr20_60876896_60878800_S:ARFRP1_chr20_62338183_62340317_S:BHLHE23_chr20_61640506_61640673_S:DIDO1_chr20_61556720_61558579_S:LSM14B_chr20_60696457_60698518_S:OGFR_chr20_61436824_61437816_S:PSMA7_chr20_60716862_60717433_S:SLC17A9_chr20_61583633_61586376_S:SLC2A4RG_chr20_62368200_62373130_S:SLCO4A1_chr20_61297480_61299367_S:SLCO4A1_chr20_61299830_61300648_S:YTHDF1_chr20_61846442_61848143_S 12 . -1 -1 . -1 . . . . . . . chr20 61555294 61555518 11101 2 DIDO1_chr20_61553883_61554120_F:DIDO1_chr20_61554875_61554902_F 2 . -1 -1 . -1 . . . . . . . chr20 61555345 61555518 11101 2 DIDO1_chr20_61283424_61284400_S 1 . -1 -1 . -1 . . . . . . . chr20 61555725 61555974 11101 1 DIDO1_chr20_61283424_61284400_S:DIDO1_chr20_61553883_61554120_F:DIDO1_chr20_61554875_61554902_F:DIDO1_chr20_61556043_61558403_F 4 . -1 -1 . -1 . . . . . . . chr20 61556270 61556457 11101 1 DIDO1_chr20_61283424_61284400_S:DIDO1_chr20_61553883_61554120_F:DIDO1_chr20_61554875_61554902_F:DIDO1_chr20_61555881_61556606_F:DIDO1_chr20_61556043_61558403_F 5 . -1 -1 . -1 . . . . . . . chr20 61569189 61569391 10101 1 DIDO1_chr20_61283424_61284400_S 1 . -1 -1 . -1 . . . . . . . chr20 61583817 61584147 11101 1 SLC17A9_chr20_61283023_61283307_S:SLC17A9_chr20_61283424_61284400_S:SLC17A9_chr20_61531800_61532000_S:SLC17A9_chr20_61585554_61585775_F:SLC17A9_chr20_62365626_62368200_S 5 . -1 -1 . -1 . . . . . . . chr20 61586291 61586376 10000 1 SLC17A9_chr20_61283023_61283307_S:SLC17A9_chr20_61283424_61284400_S:SLC17A9_chr20_61531800_61532000_S:SLC17A9_chr20_62365626_62368200_S 4 . -1 -1 . -1 . . . . . . . chr20 61847547 61847743 10100 1 YTHDF1_chr20_61283424_61284400_S:YTHDF1_chr20_61454309_61454600_S:YTHDF1_chr20_61531800_61532000_S:YTHDF1_chr20_62365626_62368200_S 4 . -1 -1 . -1 . . . . . . . chr20 62169149 62169460 10100 2 PTK6_chr20_62170184_62170345_F 1 . -1 -1 . -1 . . . . . . . chr20 62255875 62256059 10000 1 ARFRP1_chr20_62338183_62340317_S:UCKL1_chr20_62586581_62589600_S 2 . -1 -1 . -1 . . . . . . . chr20 62259715 62259876 10000 1 GMEB2_chr20_61283424_61284400_S:GMEB2_chr20_61454309_61454600_S 2 . -1 -1 . -1 . . . . . . . chr20 62339102 62339439 10000 1 ARFRP1_chr20_61446283_61446600_S:ARFRP1_chr20_61454309_61454600_S:ARFRP1_chr20_61531800_61532000_S:ARFRP1_chr20_61640200_61640506_S:ARFRP1_chr20_61640673_61642157_S:ARFRP1_chr20_62255856_62256226_S:ARFRP1_chr20_62365626_62368200_S:ARFRP1_chr20_62413628_62413874_S:ARFRP1_chr20_62451243_62451600_S:ARFRP1_chr20_62654054_62655400_S:ARFRP1_chr20_62666600_62667000_S:ARFRP1_chr20_62870400_62870578_S 12 . -1 -1 . -1 . . . . . . . chr20 62365806 62366105 10000 3 ARFRP1_chr20_62338183_62340317_S:DIDO1_chr20_61545861_61546128_S:DIDO1_chr20_61556720_61558579_S:DIDO1_chr20_61567418_61567518_S:DNAJC5_chr20_62527624_62528336_S:LINC00176_chr20_62667000_62669377_S:MRGBP_chr20_61428973_61429200_S:NKAIN4_chr20_61903435_61905514_S:NKAIN4_chr20_61906169_61906441_S:OGFR_chr20_61436824_61437816_S:OGFR_chr20_61438237_61438600_S:PRPF6_chr20_62610709_62613051_S:SLC17A9_chr20_61583633_61586376_S:SLC2A4RG_chr20_62368200_62373130_S:UCKL1_chr20_62580000_62581600_S:UCKL1_chr20_62586581_62589600_S:YTHDF1_chr20_61846442_61848143_S:ZNF512B_chr20_62599609_62599938_S:ZNF512B_chr20_62600174_62601804_S 19 . -1 -1 . -1 . . . . . . . chr20 62366802 62367159 10000 1 ARFRP1_chr20_62338183_62340317_S:DIDO1_chr20_61545861_61546128_S:DIDO1_chr20_61556720_61558579_S:DIDO1_chr20_61567418_61567518_S:DNAJC5_chr20_62527624_62528336_S:LINC00176_chr20_62667000_62669377_S:MRGBP_chr20_61428973_61429200_S:NKAIN4_chr20_61903435_61905514_S:NKAIN4_chr20_61906169_61906441_S:OGFR_chr20_61436824_61437816_S:OGFR_chr20_61438237_61438600_S:PRPF6_chr20_62610709_62613051_S:SLC17A9_chr20_61583633_61586376_S:SLC2A4RG_chr20_62368200_62373130_S:UCKL1_chr20_62580000_62581600_S:UCKL1_chr20_62586581_62589600_S:YTHDF1_chr20_61846442_61848143_S:ZNF512B_chr20_62599609_62599938_S:ZNF512B_chr20_62600174_62601804_S 19 . -1 -1 . -1 . . . . . . . chr20 62367630 62367979 10000 1 ARFRP1_chr20_62338183_62340317_S:DIDO1_chr20_61545861_61546128_S:DIDO1_chr20_61556720_61558579_S:DIDO1_chr20_61567418_61567518_S:DNAJC5_chr20_62527624_62528336_S:LINC00176_chr20_62667000_62669377_S:MRGBP_chr20_61428973_61429200_S:NKAIN4_chr20_61903435_61905514_S:NKAIN4_chr20_61906169_61906441_S:OGFR_chr20_61436824_61437816_S:OGFR_chr20_61438237_61438600_S:PRPF6_chr20_62610709_62613051_S:SLC17A9_chr20_61583633_61586376_S:SLC2A4RG_chr20_62368200_62373130_S:UCKL1_chr20_62580000_62581600_S:UCKL1_chr20_62586581_62589600_S:YTHDF1_chr20_61846442_61848143_S:ZNF512B_chr20_62599609_62599938_S:ZNF512B_chr20_62600174_62601804_S 19 . -1 -1 . -1 . . . . . . . chr20 62369296 62369746 10000 1 SLC2A4RG_chr20_61454309_61454600_S:SLC2A4RG_chr20_61531800_61532000_S:SLC2A4RG_chr20_61640200_61640506_S:SLC2A4RG_chr20_61640673_61642157_S:SLC2A4RG_chr20_62127686_62128116_S:SLC2A4RG_chr20_62365626_62368200_S:SLC2A4RG_chr20_62714330_62714905_S 7 . -1 -1 . -1 . . . . . . . chr20 62370593 62370815 10000 2 SLC2A4RG_chr20_61454309_61454600_S:SLC2A4RG_chr20_61531800_61532000_S:SLC2A4RG_chr20_61640200_61640506_S:SLC2A4RG_chr20_61640673_61642157_S:SLC2A4RG_chr20_62127686_62128116_S:SLC2A4RG_chr20_62365626_62368200_S:SLC2A4RG_chr20_62714330_62714905_S 7 . -1 -1 . -1 . . . . . . . chr20 62372183 62372766 10000 2 SLC2A4RG_chr20_61454309_61454600_S:SLC2A4RG_chr20_61531800_61532000_S:SLC2A4RG_chr20_61640200_61640506_S:SLC2A4RG_chr20_61640673_61642157_S:SLC2A4RG_chr20_62127686_62128116_S:SLC2A4RG_chr20_62365626_62368200_S:SLC2A4RG_chr20_62714330_62714905_S 7 . -1 -1 . -1 . . . . . . . chr20 62526357 62526468 10101 1 DNAJC5_chr20_62527317_62528264_F 1 . -1 -1 . -1 . . . . . . . chr20 62528122 62528335 11000 2 DNAJC5_chr20_62365626_62368200_S:DNAJC5_chr20_62525954_62527991_F 2 . -1 -1 . -1 . . . . . . . chr20 62587241 62587479 11100 1 UCKL1_chr20_62255856_62256226_S:UCKL1_chr20_62365626_62368200_S:UCKL1_chr20_62654054_62655400_S:UCKL1_chr20_62666600_62667000_S 4 . -1 -1 . -1 . . . . . . . chr20 62587640 62588247 11101 2 UCKL1_chr20_62255856_62256226_S:UCKL1_chr20_62365626_62368200_S:UCKL1_chr20_62654054_62655400_S:UCKL1_chr20_62666600_62667000_S 4 . -1 -1 . -1 . . . . . . . chr20 62600325 62600550 11101 2 ZNF512B_chr20_62365626_62368200_S:ZNF512B_chr20_62654054_62655400_S:ZNF512B_chr20_62666600_62667000_S 3 . -1 -1 . -1 . . . . . . . chr20 62612347 62612502 11101 2 PRPF6_chr20_62365626_62368200_S 1 . -1 -1 . -1 . . . . . . . chr20 62655108 62655226 11000 1 ARFRP1_chr20_62338183_62340317_S:LINC00176_chr20_62667000_62669377_S:UCKL1_chr20_62580000_62581600_S:UCKL1_chr20_62586581_62589600_S:ZNF512B_chr20_62600174_62601804_S 5 . -1 -1 . -1 . . . . . . . chr21 16435418 16435620 11101 1 NRIP1_chr21_16435476_16437626_F 1 . -1 -1 . -1 . . . . . . . chr21 16435476 16435620 11101 1 NRIP1_chr21_16435480_16435873_F 1 . -1 -1 . -1 . . . . . . . chr21 16436137 16436173 10001 1 NRIP1_chr21_16435476_16437626_F 1 . -1 -1 . -1 . . . . . . . chr21 16436137 16436268 10001 1 NRIP1_chr21_16435480_16435873_F 1 . -1 -1 . -1 . . . . . . . chr21 16437286 16437509 11101 2 NRIP1_chr21_16435480_16435873_F 1 . -1 -1 . -1 . . . . . . . chr21 17103147 17103252 10000 1 USP25_chr21_17103695_17103792_F:USP25_chr21_17104761_17105053_F 2 . -1 -1 . -1 . . . . . . . chr21 28217655 28217828 10000 2 ADAMTS1_chr21_28218728_28219247_F 1 . -1 -1 . -1 . . . . . . . chr21 28218445 28218561 10000 1 ADAMTS1_chr21_28217227_28219188_F:ADAMTS1_chr21_28218728_28219247_F 2 . -1 -1 . -1 . . . . . . . chr21 28339658 28339816 11101 1 ADAMTS5_chr21_28336800_28337144_F 1 . -1 -1 . -1 . . . . . . . chr21 30668925 30669035 11000 1 BACH1_chr21_30669062_30671720_F:BACH1_chr21_30669062_30672237_F 2 . -1 -1 . -1 . . . . . . . chr21 30670211 30670321 11000 1 BACH1_chr21_30669074_30669451_F:BACH1_chr21_30669074_30669451_F 2 . -1 -1 . -1 . . . . . . . chr21 30671130 30671322 11000 1 BACH1_chr21_30669074_30669451_F:BACH1_chr21_30669074_30669451_F 2 . -1 -1 . -1 . . . . . . . chr21 30671944 30672152 11000 1 BACH1_chr21_30669074_30669451_F 1 . -1 -1 . -1 . . . . . . . chr21 33104578 33104916 11100 1 SCAF4_chr21_33105563_33105881_F 1 . -1 -1 . -1 . . . . . . . chr21 34774709 34774866 11000 1 IFNGR2_chr21_34773380_34773606_F 1 . -1 -1 . -1 . . . . . . . chr21 36258524 36258689 10100 1 RUNX1_chr21_36257911_36258724_F:RUNX1_chr21_36258117_36261487_F 2 . -1 -1 . -1 . . . . . . . chr21 36260531 36260644 10000 1 RUNX1_chr21_36257911_36258724_F:RUNX1_chr21_36263020_36263336_F 2 . -1 -1 . -1 . . . . . . . chr21 36260987 36261205 11101 1 RUNX1_chr21_36257911_36258724_F:RUNX1_chr21_36263020_36263336_F 2 . -1 -1 . -1 . . . . . . . chr21 36423661 36423950 10000 3 RUNX1_chr21_36423642_36423856_F 1 . -1 -1 . -1 . . . . . . . chr21 36423661 36424045 10000 3 RUNX1_chr21_36421094_36423950_F 1 . -1 -1 . -1 . . . . . . . chr21 37692265 37692553 11101 2 MORC3_chr21_37695369_37695803_F 1 . -1 -1 . -1 . . . . . . . chr21 37693525 37693829 11101 1 MORC3_chr21_37695369_37695803_F 1 . -1 -1 . -1 . . . . . . . chr21 40685601 40685771 11000 1 BRWD1_chr21_40689481_40689668_F 1 . -1 -1 . -1 . . . . . . . chr21 40689407 40689596 00000 1 BRWD1_chr21_40685211_40689775_F:BRWD1_chr21_40689481_40689668_F 2 . -1 -1 . -1 . . . . . . . chr21 42879990 42880372 11000 1 TMPRSS2_chr21_42879173_42879227_F:TMPRSS2_chr21_42879173_42879227_F:TMPRSS2_chr21_42880678_42881074_F:TMPRSS2_chr21_42880678_42881074_F 4 . -1 -1 . -1 . . . . . . . chr21 43184831 43185127 10001 2 RIPK4_chr21_43183711_43183960_F 1 . -1 -1 . -1 . . . . . . . chr21 43187166 43187699 10100 3 RIPK4_chr21_43183711_43183960_F:RIPK4_chr21_43188787_43189188_F 2 . -1 -1 . -1 . . . . . . . chr21 43188021 43188214 10001 1 RIPK4_chr21_43188787_43189188_F 1 . -1 -1 . -1 . . . . . . . chr21 43188826 43189172 10000 2 RIPK4_chr21_43186748_43189188_F:RIPK4_chr21_43188787_43189188_F 2 . -1 -1 . -1 . . . . . . . chr21 43619601 43619847 11101 1 ABCG1_chr21_43615416_43615758_F 1 chr21 43619665 43619666 CR096274 + 3 DFP rs1378577 ABCG1 Coronary artery disease: severity: in Japanese men: association with ACTAGGTGCTGCTTTACGCCCAGTGACTTG[T/G]GAGGGAACAGAACTGCCCTTTAGTAACCCT 19556716 chr21 44527620 44527883 11100 1 U2AF1_chr21_44529146_44529448_F:U2AF1_chr21_44859007_44861943_S 2 . -1 -1 . -1 . . . . . . . chr21 44859465 44859597 10000 1 ENSG00000232010_chr21_45668726_45670573_S:U2AF1_chr21_44526980_44528118_S 2 . -1 -1 . -1 . . . . . . . chr21 44860822 44861241 10000 3 ENSG00000232010_chr21_45668726_45670573_S:U2AF1_chr21_44526980_44528118_S 2 . -1 -1 . -1 . . . . . . . chr21 45078994 45079468 11100 2 RRP1B_chr21_45080522_45080871_F 1 . -1 -1 . -1 . . . . . . . chr21 45663968 45664120 11000 1 ICOSLG_chr21_45660333_45664174_F:ICOSLG_chr21_45663780_45664167_F 2 . -1 -1 . -1 . . . . . . . chr21 45669183 45669719 11000 3 ENSG00000232010_chr21_44859007_44861943_S 1 . -1 -1 . -1 . . . . . . . chr21 46953926 46954119 10000 1 SLC19A1_chr21_46952785_46952947_F 1 . -1 -1 . -1 . . . . . . . chr21 46954635 46954965 10100 1 SLC19A1_chr21_46952785_46952947_F 1 . -1 -1 . -1 . . . . . . . chr21 47648779 47648917 11100 1 LSS_chr21_46847098_46848200_S 1 . -1 -1 . -1 . . . . . . . chr22 17565641 17565824 10000 1 IL17RA_chr22_17567178_17567397_F 1 . -1 -1 . -1 . . . . . . . chr22 17566247 17566446 10000 1 IL17RA_chr22_17567178_17567397_F 1 . -1 -1 . -1 . . . . . . . chr22 18042682 18042947 11000 3 SLC25A18_chr22_18043890_18044097_F 1 . -1 -1 . -1 . . . . . . . chr22 18922356 18922502 00000 1 PRODH_chr22_18921428_18921794_F:PRODH_chr22_18921428_18921794_F 2 . -1 -1 . -1 . . . . . . . chr22 19165756 19165942 11000 1 ENSG00000100075_chr22_20116270_20117000_S 1 . -1 -1 . -1 . . . . . . . chr22 19166414 19166682 11000 1 ENSG00000100075_chr22_20116270_20117000_S 1 . -1 -1 . -1 . . . . . . . chr22 20067293 20067626 11101 2 DGCR8_chr22_20068627_20068902_F 1 . -1 -1 . -1 . . . . . . . chr22 20072162 20072432 11000 2 DGCR8_chr22_20072800_20072900_S:DGCR8_chr22_20116270_20117000_S:DGCR8_chr22_20906600_20907800_S 3 . -1 -1 . -1 . . . . . . . chr22 20116392 20117000 10000 2 DGCR8_chr22_20072136_20072800_S:ENSG00000100075_chr22_19165309_19167291_S:ZDHHC8_chr22_20117000_20117252_S 3 . -1 -1 . -1 . . . . . . . chr22 20117000 20117072 10000 2 ZDHHC8_chr22_20116270_20117000_S 1 . -1 -1 . -1 . . . . . . . chr22 20861733 20861852 10001 1 MED15_chr22_20863506_20864089_F 1 . -1 -1 . -1 . . . . . . . chr22 21131908 21132200 11000 3 SERPIND1_chr22_21132200_21132600_S 1 . -1 -1 . -1 . . . . . . . chr22 21132200 21132363 11000 3 CRKL_chr22_21271140_21272636_S:SDF2L1_chr22_21995786_21996868_S:SERPIND1_chr22_21131820_21132200_S:SNAP29_chr22_21212446_21213725_S:YDJC_chr22_21983442_21984494_S 5 . -1 -1 . -1 . . . . . . . chr22 21212470 21212599 11101 1 SNAP29_chr22_21132200_21132600_S:SNAP29_chr22_21305600_21307600_S 2 chr22 21212476 21212477 CR014437 + 3 DP rs165596 SNAP29 Schizophrenia: association with GGTCGCGGAATAAAAAGCAGGTGAAATCGG[A/G]AGCAGAACCCCAGGTCTTGACCCCTGGTCC 11317222 chr22 21213017 21213388 11101 2 SNAP29_chr22_21132200_21132600_S:SNAP29_chr22_21305600_21307600_S 2 . -1 -1 . -1 . . . . . . . chr22 21271212 21271519 10000 3 CRKL_chr22_21132200_21132600_S 1 . -1 -1 . -1 . . . . . . . chr22 21305600 21305762 10000 1 SNAP29_chr22_21212446_21213725_S 1 . -1 -1 . -1 . . . . . . . chr22 21306241 21306452 10000 2 SNAP29_chr22_21212446_21213725_S 1 . -1 -1 . -1 . . . . . . . chr22 21307089 21307374 10000 2 SNAP29_chr22_21212446_21213725_S 1 . -1 -1 . -1 . . . . . . . chr22 21984306 21984423 10000 1 YDJC_chr22_21132200_21132600_S 1 . -1 -1 . -1 . . . . . . . chr22 22222009 22222173 10101 1 MAPK1_chr22_22219429_22219677_F 1 . -1 -1 . -1 . . . . . . . chr22 23484192 23484451 10100 2 RTDR1_chr22_23480066_23480419_F 1 . -1 -1 . -1 . . . . . . . chr22 24110487 24110694 10100 1 MMP11_chr22_23417264_23418600_S 1 . -1 -1 . -1 . . . . . . . chr22 24372849 24373072 10000 1 ENSG00000235231_chr22_23417264_23418600_S 1 . -1 -1 . -1 . . . . . . . chr22 28315307 28315512 11101 2 PITPNB_chr22_28314180_28314595_F 1 . -1 -1 . -1 . . . . . . . chr22 29198822 29199003 10000 1 THOC5_chr22_29949295_29950048_S 1 . -1 -1 . -1 . . . . . . . chr22 29209805 29210257 11000 3 THOC5_chr22_29949295_29950048_S 1 . -1 -1 . -1 . . . . . . . chr22 29468644 29468903 11100 2 KREMEN1_chr22_29469912_29470391_F:KREMEN1_chr22_29471077_29471334_F 2 . -1 -1 . -1 . . . . . . . chr22 29949721 29949911 10101 1 THOC5_chr22_29198600_29199027_S:THOC5_chr22_29209800_29210373_S 2 . -1 -1 . -1 . . . . . . . chr22 31606947 31607183 10000 2 LIMK2_chr22_31606567_31606987_F:LIMK2_chr22_31606577_31608750_F 2 . -1 -1 . -1 . . . . . . . chr22 31608109 31608299 10100 1 LIMK2_chr22_31606567_31606987_F:LIMK2_chr22_31609195_31609531_F 2 . -1 -1 . -1 . . . . . . . chr22 34317145 34317290 10000 1 LARGE_chr22_34317541_34317731_F 1 . -1 -1 . -1 . . . . . . . chr22 34317241 34317290 10000 1 LARGE_chr22_34315915_34317837_F 1 . -1 -1 . -1 . . . . . . . chr22 35775204 35775422 10000 1 HMOX1_chr22_35772921_35773272_F:HMOX1_chr22_35773875_35773984_F 2 . -1 -1 . -1 . . . . . . . chr22 35776010 35776219 10010 2 HMOX1_chr22_35772921_35773272_F:HMOX1_chr22_35773875_35773984_F 2 . -1 -1 . -1 . . . . . . . chr22 35776833 35777142 11010 2 HMOX1_chr22_35772921_35773272_F:HMOX1_chr22_35773875_35773984_F 2 . -1 -1 . -1 . . . . . . . chr22 36556819 36556928 10000 1 APOL3_chr22_36558232_36558675_F 1 . -1 -1 . -1 . . . . . . . chr22 36560730 36560959 10000 1 APOL3_chr22_36558232_36558675_F 1 . -1 -1 . -1 . . . . . . . chr22 36561242 36561577 10000 4 APOL3_chr22_36558232_36558675_F 1 . -1 -1 . -1 . . . . . . . chr22 36562658 36562725 10000 2 APOL3_chr22_36558232_36558675_F 1 . -1 -1 . -1 . . . . . . . chr22 36635558 36635770 10000 2 APOL2_chr22_37427608_37429026_S 1 . -1 -1 . -1 . . . . . . . chr22 37427859 37428154 10000 2 APOL2_chr22_36635206_36635849_S 1 . -1 -1 . -1 . . . . . . . chr22 37428872 37429026 10111 4 APOL2_chr22_36635206_36635849_S 1 . -1 -1 . -1 . . . . . . . chr22 37429118 37429285 10111 4 C1QTNF6_chr22_37594536_37596258_S 1 . -1 -1 . -1 . . . . . . . chr22 37594536 37594719 10101 3 C1QTNF6_chr22_37429118_37429800_S 1 . -1 -1 . -1 . . . . . . . chr22 37596005 37596157 10101 1 C1QTNF6_chr22_37429118_37429800_S 1 . -1 -1 . -1 . . . . . . . chr22 38003599 38003804 11001 1 GGA1_chr22_38003584_38004981_F:GGA1_chr22_38003584_38005547_F:GGA1_chr22_38003646_38003923_F:GGA1_chr22_38003646_38003923_F 4 . -1 -1 . -1 . . . . . . . chr22 38004327 38004828 11111 1 GGA1_chr22_38003646_38003923_F:GGA1_chr22_38003646_38003923_F 2 . -1 -1 . -1 . . . . . . . chr22 39151332 39151698 10011 1 SUN2_chr22_39154682_39154985_F 1 . -1 -1 . -1 . . . . . . . chr22 39151523 39151698 10011 1 SUN2_chr22_39154682_39154985_F 1 . -1 -1 . -1 . . . . . . . chr22 39152307 39152546 10000 1 SUN2_chr22_39154682_39154985_F:SUN2_chr22_39154682_39154985_F 2 . -1 -1 . -1 . . . . . . . chr22 39635606 39635726 11000 1 PDGFB_chr22_39635124_39637414_F 1 . -1 -1 . -1 . . . . . . . chr22 39635606 39635837 11000 1 PDGFB_chr22_39635222_39635426_F 1 . -1 -1 . -1 . . . . . . . chr22 40573716 40573962 11000 2 TNRC6B_chr22_40575185_40575584_F 1 . -1 -1 . -1 . . . . . . . chr22 40575200 40575348 11000 1 TNRC6B_chr22_40573428_40575585_F:TNRC6B_chr22_40575185_40575584_F 2 . -1 -1 . -1 . . . . . . . chr22 41074681 41075025 11000 2 MCHR1_chr22_41079087_41079368_F 1 . -1 -1 . -1 . . . . . . . chr22 41075720 41075834 10000 1 MCHR1_chr22_41079087_41079368_F 1 . -1 -1 . -1 . . . . . . . chr22 41078224 41078434 10000 1 MCHR1_chr22_41079087_41079368_F 1 . -1 -1 . -1 . . . . . . . chr22 41682304 41682691 11111 2 RANGAP1_chr22_41684313_41684541_F 1 . -1 -1 . -1 . . . . . . . chr22 41684389 41684592 11000 3 RANGAP1_chr22_41681715_41684628_F:RANGAP1_chr22_41684313_41684541_F 2 . -1 -1 . -1 . . . . . . . chr22 41840467 41840642 11000 1 TOB2_chr22_41839332_41839605_F 1 . -1 -1 . -1 . . . . . . . chr22 41842735 41843029 11000 2 TOB2_chr22_41839332_41839605_F:TOB2_chr22_41844337_41844774_F 2 . -1 -1 . -1 . . . . . . . chr22 41844169 41844756 11000 4 TOB2_chr22_41844337_41844774_F 1 . -1 -1 . -1 . . . . . . . chr22 41844169 41844842 11000 4 TOB2_chr22_41842526_41844756_F 1 . -1 -1 . -1 . . . . . . . chr22 42486851 42487123 10010 1 ENSG00000184983_chr22_43309552_43310000_S 1 . -1 -1 . -1 . . . . . . . chr22 42526382 42526540 10000 2 CYP2D6_chr22_42527695_42528060_F 1 . -1 -1 . -1 . . . . . . . chr22 42526770 42527061 10000 2 CYP2D6_chr22_42527695_42528060_F 1 . -1 -1 . -1 . . . . . . . chr22 42528043 42528078 10000 1 CYP2D6_chr22_42527695_42528060_F 1 . -1 -1 . -1 . . . . . . . chr22 42528043 42528204 10000 1 CYP2D6_chr22_42526382_42528078_F 1 . -1 -1 . -1 . . . . . . . chr22 43309871 43310000 11000 3 ENSG00000184983_chr22_42486082_42487391_S:POLDIP3_chr22_43008873_43009167_S 2 . -1 -1 . -1 . . . . . . . chr22 43325387 43325642 10000 2 POLDIP3_chr22_43008873_43009167_S 1 . -1 -1 . -1 . . . . . . . chr22 43336333 43336515 11000 1 POLDIP3_chr22_43008873_43009167_S 1 . -1 -1 . -1 . . . . . . . chr22 44319626 44319752 10011 1 PNPLA3_chr22_44321391_44321759_F 1 . -1 -1 . -1 . . . . . . . chr22 44321433 44321776 10011 3 PNPLA3_chr22_44321391_44321759_F 1 . -1 -1 . -1 . . . . . . . chr22 44321433 44321781 10011 3 PNPLA3_chr22_44319118_44321776_F 1 . -1 -1 . -1 . . . . . . . chr22 45637019 45637150 10000 2 KIAA0930_chr22_45635616_45635934_F 1 . -1 -1 . -1 . . . . . . . chr22 47154803 47155087 10000 1 TBC1D22A_chr22_47154084_47154397_F 1 . -1 -1 . -1 . . . . . . . chr22 47158364 47158543 11000 1 TBC1D22A_chr22_47154084_47154397_F 1 . -1 -1 . -1 . . . . . . . chr22 50247167 50247347 11100 1 ZBED4_chr22_50248429_50248807_F 1 . -1 -1 . -1 . . . . . . . chr22 50608573 50608689 10000 1 PANX2_chr22_50608009_50609660_F:PANX2_chr22_50608010_50608409_F 2 . -1 -1 . -1 . . . . . . . chr22 50744341 50744557 10000 1 PLXNB2_chr22_50741799_50742849_F:PLXNB2_chr22_50742925_50743370_F:PLXNB2_chr22_50743436_50743850_F:PLXNB2_chr22_50743986_50744741_F:PLXNB2_chr22_50744163_50746501_F 5 . -1 -1 . -1 . . . . . . . chr22 50744448 50744557 10000 1 PLXNB2_chr22_50744667_50746501_F 1 . -1 -1 . -1 . . . . . . . chrX 1331542 1331689 10000 1 CRLF2_chrX_1327097_1327494_F:CRLF2_chrX_1327097_1327494_F:CRLF2_chrX_1334123_1334262_F:CRLF2_chrX_1334123_1334262_F 4 . -1 -1 . -1 . . . . . . . chrX 1511198 1511587 10000 1 SLC25A6_chrX_1514556_1514901_F 1 . -1 -1 . -1 . . . . . . . chrX 9430989 9431200 11111 4 TBL1X_chrX_9431200_9431435_S 1 . -1 -1 . -1 . . . . . . . chrX 9431200 9431435 11111 4 TBL1X_chrX_9430748_9431200_S 1 . -1 -1 . -1 . . . . . . . chrX 12988811 12989214 10000 1 TMSB4X_chrX_12988794_12993726_F:TMSB4X_chrX_12988805_12989184_F 2 . -1 -1 . -1 . . . . . . . chrX 12989857 12990038 10000 1 TMSB4X_chrX_12988805_12989184_F:TMSB4X_chrX_12989743_12993726_F:TMSB4X_chrX_12989837_12990050_F 3 . -1 -1 . -1 . . . . . . . chrX 12990458 12990615 10000 1 TMSB4X_chrX_12988805_12989184_F:TMSB4X_chrX_12989837_12990050_F:TMSB4X_chrX_12990444_12993726_F:TMSB4X_chrX_12990588_12990700_F 4 . -1 -1 . -1 . . . . . . . chrX 13706973 13707218 11000 1 RAB9A_chrX_13709946_13709989_F 1 . -1 -1 . -1 . . . . . . . chrX 13708140 13708364 10010 1 RAB9A_chrX_13709946_13709989_F 1 . -1 -1 . -1 . . . . . . . chrX 15873056 15873172 11100 1 AP1S2_chrX_15871584_15871957_F:AP1S2_chrX_15874387_15874556_F 2 . -1 -1 . -1 . . . . . . . chrX 16804205 16804454 10110 2 TXLNG_chrX_16805192_16805460_F 1 . -1 -1 . -1 . . . . . . . chrX 16805636 16805760 10100 1 TXLNG_chrX_16804054_16805527_F 1 . -1 -1 . -1 . . . . . . . chrX 20283638 20283826 10010 1 RPS6KA3_chrX_20281516_20281702_F:RPS6KA3_chrX_20283183_20283718_F:RPS6KA3_chrX_20283250_20285250_F 3 . -1 -1 . -1 . . . . . . . chrX 23801034 23801362 11111 1 SAT1_chrX_23799321_23799855_F 1 . -1 -1 . -1 . . . . . . . chrX 39954381 39954497 10000 1 BCOR_chrX_39953783_39957219_F 1 . -1 -1 . -1 . . . . . . . chrX 39954381 39954507 10000 1 BCOR_chrX_39953769_39954197_F 1 . -1 -1 . -1 . . . . . . . chrX 40032662 40032816 11000 1 BCOR_chrX_40033199_40037082_F 1 . -1 -1 . -1 . . . . . . . chrX 40033345 40033507 11000 2 BCOR_chrX_40032962_40033837_F:BCOR_chrX_40033199_40037082_F 2 . -1 -1 . -1 . . . . . . . chrX 40943579 40944007 11111 2 USP9X_chrX_40943745_40945388_F 1 . -1 -1 . -1 . . . . . . . chrX 40943745 40944007 11111 2 USP9X_chrX_40943673_40944218_F 1 . -1 -1 . -1 . . . . . . . chrX 41780813 41781038 11000 2 CASK_chrX_41780048_41780299_F 1 . -1 -1 . -1 . . . . . . . chrX 44732117 44732451 10010 3 KDM6A_chrX_44733657_44734406_F 1 . -1 -1 . -1 . . . . . . . chrX 44733319 44733525 10010 1 KDM6A_chrX_44733657_44734406_F 1 . -1 -1 . -1 . . . . . . . chrX 44733357 44733525 10010 1 KDM6A_chrX_44731922_44734232_F 1 . -1 -1 . -1 . . . . . . . chrX 46435387 46435598 10000 1 CHST7_chrX_46432691_46435863_F:CHST7_chrX_46435390_46435934_F:CHST7_chrX_46436763_46437171_F 3 . -1 -1 . -1 . . . . . . . chrX 46696095 46696334 11111 1 RP2_chrX_46697676_46697837_F 1 . -1 -1 . -1 . . . . . . . chrX 46696843 46697067 11000 1 RP2_chrX_46697676_46697837_F 1 . -1 -1 . -1 . . . . . . . chrX 48776294 48776449 11101 2 PIM2_chrX_48777238_48777933_F 1 . -1 -1 . -1 . . . . . . . chrX 67913394 67913554 11110 1 STARD8_chrX_67914058_67914579_F:STARD8_chrX_67916240_67916349_F 2 . -1 -1 . -1 . . . . . . . chrX 67914404 67914519 10000 1 STARD8_chrX_67914058_67914579_F 1 . -1 -1 . -1 . . . . . . . chrX 67914404 67914533 10000 1 STARD8_chrX_67912981_67914519_F:STARD8_chrX_67916240_67916349_F 2 . -1 -1 . -1 . . . . . . . chrX 67915117 67915391 11000 1 STARD8_chrX_67916240_67916349_F 1 . -1 -1 . -1 . . . . . . . chrX 82764803 82764919 10000 1 POU3F4_chrX_82765698_82766098_F 1 . -1 -1 . -1 . . . . . . . chrX 95939688 95939849 11110 2 DIAPH2_chrX_95940743_95941133_F 1 . -1 -1 . -1 . . . . . . . chrX 95940872 95941080 11111 3 DIAPH2_chrX_95939161_95941139_F:DIAPH2_chrX_95940743_95941133_F 2 . -1 -1 . -1 . . . . . . . chrX 107070248 107070385 10000 1 MID2_chrX_107068583_107070697_F:MID2_chrX_107070299_107070693_F 2 . -1 -1 . -1 . . . . . . . chrX 112083542 112083709 11000 1 AMOT_chrX_112084647_112084962_F 1 . -1 -1 . -1 . . . . . . . chrX 117858717 117858928 10101 1 IL13RA1_chrX_117858327_117862059_F 1 . -1 -1 . -1 . . . . . . . chrX 117858717 117858983 10101 1 IL13RA1_chrX_117858426_117858628_F 1 . -1 -1 . -1 . . . . . . . chrX 117860862 117861159 10101 2 IL13RA1_chrX_117858426_117858628_F 1 . -1 -1 . -1 . . . . . . . chrX 117861058 117861159 10101 2 IL13RA1_chrX_117864756_117865062_F 1 . -1 -1 . -1 . . . . . . . chrX 117862048 117862059 10100 1 IL13RA1_chrX_117858426_117858628_F 1 . -1 -1 . -1 . . . . . . . chrX 117862048 117862226 10100 1 IL13RA1_chrX_117864756_117865062_F 1 . -1 -1 . -1 . . . . . . . chrX 117862608 117862783 10100 1 IL13RA1_chrX_117864756_117865062_F 1 . -1 -1 . -1 . . . . . . . chrX 118825104 118825536 10000 3 SEPT6_chrX_118824833_118827833_F 1 . -1 -1 . -1 . . . . . . . chrX 118825104 118825589 10000 3 SEPT6_chrX_118824830_118825236_F 1 . -1 -1 . -1 . . . . . . . chrX 131623495 131623600 11100 1 MBNL3_chrX_131625337_131625543_F 1 . -1 -1 . -1 . . . . . . . chrX 131625324 131625626 10000 3 MBNL3_chrX_131623495_131625641_F:MBNL3_chrX_131625337_131625543_F 2 . -1 -1 . -1 . . . . . . . chrX 133507188 133507327 11111 1 PHF6_chrX_133509019_133509280_F 1 . -1 -1 . -1 . . . . . . . chrX 149736731 149737023 11100 1 MTM1_chrX_149737740_149738101_F 1 . -1 -1 . -1 . . . . . . . chrX 149737289 149737590 11110 1 MTM1_chrX_149737740_149738101_F 1 . -1 -1 . -1 . . . . . . . chrX 149737440 149737590 11110 1 MTM1_chrX_149736546_149738121_F 1 . -1 -1 . -1 . . . . . . . chrX 153240086 153240223 10000 2 TMEM187_chrX_153237490_153240076_F 1 . -1 -1 . -1 . . . . . . . chrX 153770787 153770901 11010 1 IKBKG_chrX_153769958_153771373_F:IKBKG_chrX_153771070_153771275_F:IKBKG_chrX_153771434_153771677_F 3 . -1 -1 . -1 . . . . . . . chrX 153771411 153771575 11111 1 IKBKG_chrX_153769958_153771373_F 1 . -1 -1 . -1 . . . . . . . chrX 153771411 153771603 11111 1 IKBKG_chrX_153769958_153771756_F:IKBKG_chrX_153771355_153776062_F:IKBKG_chrX_153771434_153771677_F:IKBKG_chrX_153771434_153771677_F 4 . -1 -1 . -1 . . . . . . . chrX 154031226 154031373 10000 1 MPP1_chrX_154029933_154030114_F:MPP1_chrX_154030534_154030629_F 2 . -1 -1 . -1 . . . . . . . chrX 154033378 154033554 10000 1 MPP1_chrX_154029933_154030114_F:MPP1_chrX_154030534_154030629_F 2 . -1 -1 . -1 . . . . . . . chrX 154034071 154034302 11000 2 MPP1_chrX_154029933_154030114_F:MPP1_chrX_154030534_154030629_F 2 . -1 -1 . -1 . . . . . . . chrY 22737417 22737659 00000 2 EIF1AY_chrY_22735456_22735677_F 1 . -1 -1 . -1 . . . . . . .