giab_id gene ref start end n_contigs asm_cov_bp asm_cov_frac coords v4_gene_frac v4_gene_bp in_mrg v4_lt90 start_flank end_flank cov_allDiff cov_cnv_assembly cov_cnv_elliptical cov_reference_gaps cov_segdup_gt10kb cov_v0.6SVs_expanded Categories of excluded genes for GRCh38 HG002 AGL GRCh37 100295640 100409579 1 113939 1 1:100315640-100389579 0.9008372 66607 TRUE FALSE 100295640 100409579 0.2298774 0 0.0438831 0 0 0.0104091 HG002 EXTL2 GRCh37 101317943 101381554 1 63611 1 1:101337943-101361554 0.3622888 8554 TRUE TRUE 101317943 101381554 0.3744164 0 0.2672494 0 0 0 HG002 GSTM1 GRCh37 110210436 110271661 2 55470 0.9060025 1:110230436-110251661 0.7602355 16136 FALSE TRUE 110210436 110271661 0.7433565 0 0 0 0.6988158 0.0064026 HG002 MASP2 GRCh37 11066580 11127290 1 60710 1 1:11086580-11107290 0.7367455 15258 TRUE TRUE 11066580 11127290 0.2810575 0 0 0 0 0.0575194 HG002 LRIG2 GRCh37 113595831 113694882 1 99051 1 1:113615831-113674882 0.7925014 46798 TRUE TRUE 113595831 113694882 0.2873469 0 0 0 0 0.2149297 HG002 VANGL1 GRCh37 116164574 116260845 1 96271 1 1:116184574-116240845 0.896252 50433 TRUE TRUE 116164574 116260845 0.1420989 0 0 0 0 0.0554373 HG002 NPPA GRCh37 11885766 11928402 1 42636 1 1:11905766-11908402 0.7462064 1967 TRUE TRUE 11885766 11928402 0.1213528 0 0 0 0 0 HG002 NOTCH2 GRCh37 120434176 120697156 2 183841 0.6990684 1:120454176-120612240 0.4891689 77320 FALSE TRUE 120434176 120697156 0.6572401 0.341756 0.3422314 0.0570386 0.6285117 0.0208571 HG002 PDE4DIP GRCh37 144810724 145096186 2 12548 0.0439568 1:144836157-145076186 0 0 FALSE TRUE 144810724 145096186 1 0.6479987 0.956996 0.0525464 0.4973412 0.0992461 HG002 FCGR1A GRCh37 149509645 149815085 2 122246 0.4002292 1:149754227-149764074 0 0 FALSE TRUE 149509645 149815085 1 0.0852737 0.2881089 0.0491095 1 0.0657478 HG002 FLG GRCh37 152254651 152317679 1 63028 1 1:152274651-152297679 0.3621244 8339 TRUE TRUE 152254651 152317679 0.4719172 0.1661008 0 0 0.1690201 0.2624548 HG002 LCE3B GRCh37 152566287 152606574 1 18834 0.4674957 1:152586287-152586574 0 0 FALSE TRUE 152566287 152606574 0.767245 0 0 0 0 0.7360191 HG002 FLAD1 GRCh37 154934773 154985587 1 50814 1 1:154955814-154965587 0.8504042 8311 TRUE TRUE 154934773 154985587 0.3276853 0 0 0 0 0 HG002 MUC1 GRCh37 155138300 155190755 1 52455 1 1:155158300-155162707 0.64329480000000006 2835 TRUE TRUE 155138300 155190755 0.4245353 0 0 0 0.2017539 0.0299685 HG002 HCN3 GRCh37 155227374 155279639 1 52265 1 1:155247374-155259639 0.9115369 11180 TRUE FALSE 155227374 155279639 0.1772888 0 0 0 0 0.0118435 HG002 FCGR3A GRCh37 161479595 161646894 1 167299 1 1:161511549-161600917 0.8766337 78343 TRUE TRUE 161479595 161646894 1 0 0.0537959 0 1 0.0021339 HG002 FCGR2B GRCh37 161479595 161668444 1 188849 1 1:161551101-161648444 0.7230001 70379 TRUE TRUE 161479595 161668444 0.89714 0 0.0476571 0 0.8858877 0.0018904 HG002 CD247 GRCh37 167379877 167507847 1 127970 1 1:167399877-167487847 0.806093 70912 TRUE TRUE 167379877 167507847 0.2029226 0 0 0 0 0.1200281 HG002 PADI4 GRCh37 17614690 17710499 2 95767 0.9995616 1:17634690-17690499 0.8969342 50057 FALSE TRUE 17614690 17710499 0.2210231 0 0 0 0 0.0876953 HG002 PRG4 GRCh37 186245405 186303694 1 58289 1 1:186265405-186283694 0.8984089 16431 TRUE TRUE 186245405 186303694 0.1838769 0 0 0 0 0.0201067 HG002 CFHR3 GRCh37 196711704 196825045 2 57310 0.5056423 1:196743925-196763203 0.8707854 16787 FALSE TRUE 196711704 196825045 0.9662787 0 0 0 0.8610653 0.0034057 HG002 CFHR1 GRCh37 196756101 196825045 1 28726 0.416657 1:196788887-196801319 0.8622909 10720 FALSE TRUE 196756101 196825045 1 0 0 0 1 0.0055987 HG002 PTPRC GRCh37 198587801 198746545 1 158744 1 1:198607801-198726545 0.8685576 103136 TRUE TRUE 198587801 198746545 0.2442171 0 0.1070907 0 0 0 HG002 KISS1 GRCh37 204139469 204185614 1 46145 1 1:204159469-204165614 0.7729862 4750 TRUE TRUE 204139469 204185614 0.1252357 0 0 0 0 0.0251165 HG002 SLC26A9 GRCh37 205862176 205932588 1 60531 0.8596688 1:205882176-205912588 0.8361502 25429 FALSE TRUE 205862176 205932588 0.3270607 0 0 0.2130319 0 0.0141879 HG002 SRGAP2 GRCh37 206482221 206657783 2 104080 0.592839 1:206516200-206637783 0.7318786 88984 FALSE TRUE 206482221 206657783 0.6062872 0 0.2221437 0.0854399 0.575956 0.0033549 HG002 CD55 GRCh37 207474853 207554311 2 75929 0.9555866 1:207494853-207534311 0.9440925 37252 FALSE FALSE 207474853 207554311 0.2655239 0 0.0521911 0 0 0.0730952 HG002 CR1 GRCh37 207649492 207833992 2 165519 0.897122 1:207669492-207813992 0.7763045 112176 FALSE TRUE 207649492 207833992 0.6290027 0 0 0 0.4119241 0.00871 HG002 LBR GRCh37 225569204 225636627 1 67423 1 1:225589204-225616627 0.8541371 23423 TRUE TRUE 225569204 225636627 0.1831274 0 0.0593269 0 0 0 HG002 HMGCL GRCh37 24108375 24185110 1 76735 1 1:24128375-24165110 0.6880087 25274 TRUE TRUE 24108375 24185110 0.3102105 0.1346191 0 0 0 0.0252818 HG002 CNR2 GRCh37 24177016 24305549 1 128533 1 1:24197016-24285549 0.834141 73849 TRUE TRUE 24177016 24305549 0.5062435 0 0 0 0 0.0144399 HG002 RHCE GRCh37 25668740 25776683 1 107943 1 1:25688740-25756683 0.7351604 49949 TRUE TRUE 25668740 25776683 0.8072965 0 0 0 0.5827705 0.3286549 HG002 PIGV GRCh37 27093963 27145830 1 51867 1 1:27113963-27124889 0.8884313 9707 TRUE TRUE 27093963 27145830 0.1832765 0 0 0 0 0.0446141 HG002 RPL22 GRCh37 6221329 6289449 1 68120 1 1:6241329-6269449 0.9120199 25646 TRUE FALSE 6221329 6289449 0.2824868 0 0 0 0 0 HG002 ESPN GRCh37 6464848 6541430 1 76582 1 1:6484848-6521430 0.4285714 15678 TRUE TRUE 6464848 6541430 0.6153535 0 0 0 0.4146797 0.2584289 HG002 OR4F5 GRCh37 10000 177417 0 0 0 1:69091-70008 0 0 FALSE TRUE 10000 177417 1 0 0.1851664 0.1791933 1 0.029991 HG002 AGRN GRCh37 935503 1014805 1 79302 1 1:955503-991496 0.8390242 30199 TRUE TRUE 935503 1014805 0.7574967 0 0 0 0 0.1995662 HG002 BTRC GRCh37 103093820 103337078 1 243258 1 10:103113820-103317078 0.8957138 182061 TRUE TRUE 103093820 103337078 0.1918786 0 0 0 0 0.0640966 HG002 ECHS1 GRCh37 135155984 135207193 1 51209 1 10:135175984-135187193 0.8542243 9575 TRUE TRUE 135155984 135207193 0.3499971 0 0 0 0 0.0248199 HG002 SPRN GRCh37 135214170 135402916 1 188746 1 10:135234170-135382916 0.8951232 133146 TRUE TRUE 135214170 135402916 0.4117121 0 0 0 0.1422759 0.073485 HG002 DCLRE1C GRCh37 14919358 15027133 1 107775 1 10:14939358-14996431 0.2456153 14018 TRUE TRUE 14919358 15027133 0.7367572 0 0 0 0.2127952 0.6852981 HG002 MRC1 GRCh37 18024675 18221580 1 196905 1 10:18098352-18200091 0.4843079 49273 TRUE TRUE 18024675 18221580 1 0 0 0.0761789 1 0.0016455 HG002 PDSS1 GRCh37 26965125 27055727 1 90602 1 10:26986588-27035727 0.8719957 42849 TRUE TRUE 26965125 27055727 0.3879164 0 0 0 0.2361868 0.0675371 HG002 DIP2C GRCh37 300130 755683 2 454813 0.9983756 10:320130-735683 0.8747428 363502 FALSE TRUE 300130 755683 0.2639869 0 0 0 0 0.0927335 HG002 NUTM2B GRCh37 81390559 81668153 2 139470 0.5024244 10:81462983-81474437 0.216169 2476 FALSE TRUE 81390559 81668153 1 0.5368776 0.3422264 0 1 0.1837828 HG002 NUTM2D GRCh37 88870572 89260363 2 283959 0.7284904 10:89117425-89130452 0 0 FALSE TRUE 88870572 89260363 1 0 0.0615715 0 1 0.5095525 HG002 PAPSS2 GRCh37 89399370 89527462 1 128092 1 10:89419370-89507462 0.5693026 50151 TRUE TRUE 89399370 89527462 0.3692034 0 0.2888549 0 0 0.0023421 HG002 PTEN GRCh37 89602870 89751687 1 148817 1 10:89622870-89731687 0.9148387 99550 TRUE FALSE 89602870 89751687 0.2161379 0 0.0537573 0 0 0 HG002 LIPN GRCh37 90501163 90557999 1 56836 1 10:90521163-90537999 0.5248278 8836 TRUE TRUE 90501163 90557999 0.2871244 0 0.1935393 0 0 0.0065803 HG002 MUC5B GRCh37 1224296 1303406 1 79110 1 11:1244296-1283406 0.7781897 30435 TRUE TRUE 1224296 1303406 0.6153584 0 0 0.0437745 0 0.0149539 HG002 TNNT3 GRCh37 1920792 1979936 1 18836 0.3184769 11:1940792-1959936 0.8686273 16629 FALSE TRUE 1920792 1979936 0.8484208 0 0 0 0 0.423644 HG002 H19 GRCh37 1996406 2042700 1 46294 1 11:2016406-2022700 0 0 TRUE TRUE 1996406 2042700 1 0 0 0 0 0 HG002 SIRT3 GRCh37 195458 256931 1 60107 0.9777789 11:215458-236931 0.8448284 18141 FALSE TRUE 195458 256931 0.2274169 0 0.0250842 0 0 0.0760334 HG002 IFITM3 GRCh37 299669 347537 1 47868 1 11:319669-327537 0 0 TRUE TRUE 299669 347537 0.6063759 0 0 0 0 0.4717765 HG002 MDK GRCh37 46382306 46425375 1 43069 1 11:46402306-46405375 0.8458781 2596 TRUE TRUE 46382306 46425375 0.3964568 0 0 0 0 0 HG002 SPI1 GRCh37 47356411 47420127 1 63716 1 11:47376411-47400127 0.885942 21011 TRUE TRUE 47356411 47420127 0.3400873 0 0 0 0 0.0497991 HG002 OR51A2 GRCh37 4956002 4996943 2 37150 0.9074033 11:4976002-4976943 0 0 FALSE TRUE 4956002 4996943 0.541975 0 0 0 0 0.4364818 HG002 HBG1 GRCh37 5249313 5291122 1 41809 1 11:5269313-5271122 0.8789386 1590 TRUE TRUE 5249313 5291122 0.2783372 0 0 0 0 0 HG002 B3GAT3 GRCh37 62362768 62409647 1 46879 1 11:62382768-62389647 0.8100014 5572 TRUE TRUE 62362768 62409647 0.2638708 0 0 0 0 0.0085753 HG002 DRD4 GRCh37 617293 660706 1 43413 1 11:637293-640706 0.7711691 2632 TRUE TRUE 617293 660706 0.488356 0 0 0 0 0.0542695 HG002 ESRRA GRCh37 64053044 64104215 1 51171 1 11:64073044-64084215 0.8080745 9027 TRUE TRUE 64053044 64104215 0.460378 0 0 0 0.213363 0 HG002 SLC22A12 GRCh37 64338113 64389820 1 51707 1 11:64358113-64369820 0.7129923 8347 TRUE TRUE 64338113 64389820 0.2593266 0 0 0 0 0.0800665 HG002 DEAF1 GRCh37 624233 726715 1 102482 1 11:644233-706715 0.500096 31247 TRUE TRUE 624233 726715 0.6287934 0 0 0 0 0.3083273 HG002 TPCN2 GRCh37 68796365 68878072 1 81707 1 11:68816365-68858072 0.8477953 35359 TRUE TRUE 68796365 68878072 0.3482443 0 0 0 0 0.0904206 HG002 FGF3 GRCh37 69604992 69653792 1 48800 1 11:69624992-69633792 0.8042045 7077 TRUE TRUE 69604992 69653792 0.2433607 0 0 0 0 0.0234221 HG002 SHANK2 GRCh37 70293961 70983623 2 689622 0.999942 11:70313961-70963623 0.9455717 614302 FALSE FALSE 70293961 70983623 0.2163727 0.0147609 0 0 0.071087 0.0091987 HG002 TAS2R46 GRCh37 11165993 11250754 2 81321 0.9594153 12:11213964-11214893 0 0 FALSE TRUE 11165993 11250754 1 0 0.2006465 0 0.7594413 0.5876523 HG002 HNF1A GRCh37 121396346 121460315 1 63969 1 12:121416346-121440315 0.8913597 21365 TRUE TRUE 121396346 121460315 0.2175429 0 0 0 0 0.0340321 HG002 KDM2B GRCh37 121846900 122038920 1 192020 1 12:121866900-122018920 0.7695172 116982 TRUE TRUE 121846900 122038920 0.2826424 0 0 0.1572753 0 0.012405 HG002 HPD GRCh37 122257433 122321502 1 64069 1 12:122277433-122301502 0.8871577 21353 TRUE TRUE 122257433 122321502 0.2064181 0 0 0 0 0.0184489 HG002 GALNT9 GRCh37 132660924 132925935 2 165011 0.6226572 12:132680924-132905935 0.3609246 81212 FALSE TRUE 132660924 132925935 0.359936 0 0 0.1132028 0 0.0409492 HG002 P2RX2 GRCh37 133175366 133218972 1 43606 1 12:133195366-133198972 0.8574598 3092 TRUE TRUE 133175366 133218972 0.2658809 0 0 0 0 0.019401 HG002 PGAM5 GRCh37 133267405 133319228 1 51823 1 12:133287405-133299228 0.8532521 10088 TRUE TRUE 133267405 133319228 0.3955966 0 0 0 0 0.2297629 HG002 GOLGA3 GRCh37 133325495 133425444 1 99949 1 12:133345495-133405444 0.7724399 46307 TRUE TRUE 133325495 133425444 0.4266376 0 0 0 0 0.260773 HG002 COX14 GRCh37 50485762 50534240 1 48478 1 12:50505762-50514240 0.8651805 7335 TRUE TRUE 50485762 50534240 0.0982714 0 0 0 0 0 HG002 NACA GRCh37 57086212 57145412 1 59200 1 12:57106212-57125412 0.868125 16668 TRUE TRUE 57086212 57145412 0.1955743 0 0 0 0 0.0369088 HG002 DPY19L2 GRCh37 63923418 64146247 1 222829 1 12:63952693-64062719 0 0 TRUE TRUE 63923418 64146247 1 0 0 0 1 1 HG002 TMEM5 GRCh37 64153583 64223338 1 69755 1 12:64173583-64203338 0.2242984 6674 FALSE TRUE 64153583 64223338 0.6933983 0 0 0 0 0.6155545 HG002 CD4 GRCh37 6876024 6949974 1 73950 1 12:6896024-6929974 0.9156407 31086 TRUE FALSE 6876024 6949974 0.1946045 0 0 0 0 0 HG002 C1R GRCh37 7167513 7265203 2 47690 0.4881769 12:7187513-7245203 0 0 FALSE TRUE 7167513 7265203 0.322336 0 0 0.3070939 0 0.0065411 HG002 PEX5 GRCh37 7321281 7391170 1 69889 1 12:7341281-7371170 0.8836361 26411 TRUE TRUE 7321281 7391170 0.2517277 0 0 0 0 0.018558 HG002 APOBEC1 GRCh37 7781432 7838499 1 57067 1 12:7801996-7818499 0.8912925 14709 TRUE TRUE 7781432 7838499 0.2621305 0 0 0 0 0.0759283 HG002 GDF3 GRCh37 7822378 7868372 1 45994 1 12:7842378-7848372 0 0 TRUE TRUE 7822378 7868372 0.5464626 0 0 0 0 0.4054659 HG002 PTPRQ GRCh37 80779774 81092802 2 293688 0.9382164 12:80799774-81072802 0.8817557 240744 FALSE TRUE 80779774 81092802 0.291894 0 0 0 0 0.029122 HG002 F7 GRCh37 113740105 113794995 1 54890 1 13:113760105-113774995 0.5707186 8498 TRUE TRUE 113740105 113794995 0.3707961 0 0 0 0 0.1236473 HG002 PROZ GRCh37 113792968 113846694 1 53726 1 13:113812968-113826694 0.811307 11136 TRUE TRUE 113792968 113846694 0.2363846 0 0 0 0 0.0668391 HG002 GRK1 GRCh37 114301470 114460708 2 59238 0.3720092 13:114321470-114440708 0 0 FALSE TRUE 114301470 114460708 0.3254814 0 0 0.1883972 0 0.0405431 HG002 JAG2 GRCh37 105587318 105655161 1 67843 1 14:105607318-105635161 0.8492619 23646 TRUE TRUE 105587318 105655161 0.5832289 0 0 0 0 0.0643102 HG002 IGHG2 GRCh37 106072746 106136475 2 24449 0.3836401 14:106109389-106111127 0 0 FALSE TRUE 106072746 106136475 1 0.3724835 0.2667545 0 1 0.1079728 HG002 IGHA1 GRCh37 106137355 106244376 3 60391 0.5642911 14:106173457-106175002 0 0 FALSE TRUE 106137355 106244376 1 0.2010353 0 0 0.9579055 0.5758029 HG002 IGHG1 GRCh37 106164623 106244376 3 33123 0.4153198 14:106202680-106209408 0 0 FALSE TRUE 106164623 106244376 1 0.2697704 0 0 1 0.6139455 HG002 IGHM GRCh37 106300349 106342323 1 30493 0.7264735 14:106320349-106322323 0 0 FALSE TRUE 106300349 106342323 1 0 0 0 0 0.5154858 HG002 IGHV3-21 GRCh37 106667735 106712203 1 44468 1 14:106691673-106692203 0 0 TRUE TRUE 106667735 106712203 1 0 0 0 0.3014977 0 HG002 NDUFB1 GRCh37 92562466 92608261 1 45795 1 14:92582466-92588261 0.8750647 5071 TRUE TRUE 92562466 92608261 0.2060487 0 0 0 0 0.0153947 HG002 NBEAP1 GRCh37 20549357 20913737 0 0 0 15:20862967-20893737 0 0 FALSE TRUE 20549357 20913737 0.946221 0.2581947 0.2662056 0.0411658 0.9330891 0.0484 HG002 SNORD64 GRCh37 25210011 25250320 1 40309 1 15:25230011-25230320 0.8770226 271 FALSE TRUE 25210011 25250320 0.1309881 0 0 0 0 0 HG002 NDUFAF1 GRCh37 41659551 41714717 1 55166 1 15:41679551-41694717 0.8906106 13507 TRUE TRUE 41659551 41714717 0.2262082 0 0 0 0 0 HG002 PPIP5K1 GRCh37 43805660 43950351 1 144691 1 15:43825660-43882430 0.6993306 39701 TRUE TRUE 43805660 43950351 0.7333559 0 0.0622015 0 0.6857095 0 HG002 USP8 GRCh37 50696577 50813280 1 116703 1 15:50716577-50793280 0.7318227 56133 TRUE TRUE 50696577 50813280 0.2871049 0 0 0 0 0.1443408 HG002 DYX1C1 GRCh37 55682723 55820432 1 137709 1 15:55702723-55800432 0.8935308 87306 FALSE TRUE 55682723 55820432 0.2186204 0 0 0 0 0.0103697 HG002 RPS17 GRCh37 82569023 82844972 1 216555 0.7847646 15:82821158-82824972 0 0 FALSE TRUE 82569023 82844972 0.9444571 0.1956847 0 0.0543579 0.9444571 0.0014894 HG002 HOMER2 GRCh37 83478401 83674661 2 190221 0.9692296 15:83509838-83654661 0.8946507 129566 FALSE TRUE 83478401 83674661 0.3289259 0 0 0 0.0927036 0.1650769 HG002 SSTR5 GRCh37 1102756 1151454 1 48698 1 16:1122756-1131454 0.8681306 7551 TRUE TRUE 1102756 1151454 0.7407491 0 0 0 0 0.064396900000000007 HG002 MPG GRCh37 107006 155852 1 48846 1 16:127006-135852 0.8366494 7401 TRUE TRUE 107006 155852 0.3032797 0 0 0 0 0.0270647 HG002 GNPTG GRCh37 1381924 1433352 1 51428 1 16:1401924-1413352 0.2363493 2701 TRUE TRUE 1381924 1433352 0.7482305 0 0 0 0 0.3691569 HG002 UNKL GRCh37 1393206 1484752 1 91546 1 16:1413206-1464752 0.7481085 38562 TRUE TRUE 1393206 1484752 0.5691456 0 0 0 0 0.2202281 HG002 PLA2G10 GRCh37 14746405 15048647 2 157772 0.5220056 16:14766405-14788526 0.7635731 16891 FALSE TRUE 14746405 15048647 0.899908 0.2222127 0.1444108 0 0.8855255 0.0090093 HG002 CLCN7 GRCh37 1474935 1545581 1 70646 1 16:1494935-1525581 0.8333877 25540 TRUE TRUE 1474935 1545581 0.5378507 0 0 0 0 0.0616595 HG002 SMG1 GRCh37 18796175 18957776 1 161601 1 16:18816175-18937776 0.8497545 103331 TRUE TRUE 18796175 18957776 0.597255 0 0 0 0.4623981 0.0583536 HG002 HBM GRCh37 183891 236767 1 52876 1 16:203891-216767 0 0 TRUE TRUE 183891 236767 0.6390612 0 0 0 0 0.3778463 HG002 PKD1 GRCh37 2118711 2205899 1 87188 1 16:2138711-2185899 0.7489616 35342 TRUE TRUE 2118711 2205899 0.7511584 0 0 0 0.4570354 0.0050924 HG002 SLC5A11 GRCh37 24837162 24942949 1 105787 1 16:24857162-24922949 0.7395382 48652 FALSE TRUE 24837162 24942949 0.2479794 0 0 0 0 0.1381077 HG002 PDPK1 GRCh37 2567965 2727514 1 159549 1 16:2587965-2653189 0.726895 47411 TRUE TRUE 2567965 2727514 0.8746718 0 0 0 0.8070561 0.0040238 HG002 SULT1A1 GRCh37 28596903 28822634 2 202087 0.8952559 16:28616903-28634946 0.3997118 7212 FALSE TRUE 28596903 28822634 0.9792452 0.1459215 0.0620207 0 0.9483766 0.0785714 HG002 SH2B1 GRCh37 28837921 28905526 1 67605 1 16:28857921-28885526 0.8403912 23199 TRUE TRUE 28837921 28905526 0.247319 0 0 0 0 0.0275571 HG002 PHKG2 GRCh37 30739591 30792490 1 52899 1 16:30759591-30772490 0.8820063 11377 TRUE TRUE 30739591 30792490 0.1569973 0 0 0 0 0.0194522 HG002 VKORC1 GRCh37 31082163 31127301 1 45138 1 16:31102163-31107301 0.8390424 4311 TRUE TRUE 31082163 31127301 0.3022952 0 0 0 0 0.0527937 HG002 AXIN1 GRCh37 317440 422673 1 105233 1 16:337440-402673 0.7297687 47605 TRUE TRUE 317440 422673 0.5460644 0 0 0 0 0.1632093 HG002 TMEM8A GRCh37 400773 457113 1 56340 1 16:420773-437113 0.8881273 14512 FALSE TRUE 400773 457113 0.4952609 0 0 0 0 0.0171459 HG002 ORC6 GRCh37 46703555 46752306 1 48751 1 16:46723555-46732306 0.8875557 7767 TRUE TRUE 46703555 46752306 0.3776128 0 0 0 0.2920145 0.0071793 HG002 HSD11B2 GRCh37 67444555 67491456 1 46901 1 16:67464555-67471456 0.8882771 6130 TRUE TRUE 67444555 67491456 0.1247521 0 0 0 0 0 HG002 CIRH1A GRCh37 69145194 69285033 1 139839 1 16:69165194-69265033 0.7958212 79454 FALSE TRUE 69145194 69285033 0.2595986 0 0 0 0 0.1116427 HG002 HYDIN GRCh37 70821281 71284625 1 463344 1 16:70841281-71264625 0.621034 262911 TRUE TRUE 70821281 71284625 0.7827294 0.3025981 0 0 0.0779313 0.0043359 HG002 GCSH GRCh37 81095566 81150008 1 54442 1 16:81115566-81130008 0.8656695 12502 TRUE TRUE 81095566 81150008 0.1943353 0 0 0 0 0.0211601 HG002 TMEM114 GRCh37 8599502 8642304 1 37419 0.8742349 16:8619502-8622304 0.8062099 2259 FALSE TRUE 8599502 8642304 0.5507453 0 0.0700902 0.3504509 0 0.1361619 HG002 ZNF469 GRCh37 88473879 88527165 1 53286 1 16:88493879-88507165 0.9923227 13184 TRUE FALSE 88473879 88527165 0.6315167 0 0 0 0 0.0596029 HG002 CDH15 GRCh37 89218175 89281900 1 63725 1 16:89238175-89261900 0.7223182 17137 TRUE TRUE 89218175 89281900 0.6331895 0 0 0 0 0.1580541 HG002 ANKRD11 GRCh37 89314038 89576969 1 262931 1 16:89334038-89556969 0.8884991 198074 TRUE TRUE 89314038 89576969 0.2487573 0 0 0 0 0.060263 HG002 CHMP1A GRCh37 89690839 89744253 2 43903 0.8219381 16:89710839-89724253 0.7789623 10449 FALSE TRUE 89690839 89744253 0.4107724 0 0 0 0 0.0593665 HG002 MC1R GRCh37 89958527 90007385 1 48858 1 16:89978527-89987385 0.7142696 6327 TRUE TRUE 89958527 90007385 0.4771378 0 0 0 0 0.0895247 HG002 LMF1 GRCh37 883634 1051318 1 167684 1 16:903634-1031318 0.7166051 91499 TRUE TRUE 883634 1051318 0.5795305 0 0 0 0 0.2432432 HG002 SERPINF2 GRCh37 1626130 1678562 1 52432 1 17:1646130-1658562 0.829955 10318 TRUE TRUE 1626130 1678562 0.3835063 0 0 0 0 0.131332 HG002 ATPAF2 GRCh37 17860723 17962523 1 101800 1 17:17880723-17942523 0.7216343 44597 TRUE TRUE 17860723 17962523 0.2419352 0 0 0 0 0.1465422 HG002 MAP2K3 GRCh37 21167984 21238552 1 39797 0.5639525 17:21187984-21218552 0.2549071 7792 FALSE TRUE 21167984 21238552 0.68609 0.3457941 0.3479197 0 0 0.0131504 HG002 SRR GRCh37 2186677 2248554 1 61877 1 17:2206677-2228554 0.8389633 18354 TRUE TRUE 2186677 2248554 0.4575044 0 0 0 0 0.3165473 HG002 FOXN1 GRCh37 26813261 26885914 1 72653 1 17:26833261-26865914 0.8509785 27787 TRUE TRUE 26813261 26885914 0.1952431 0 0 0 0 0.0653517 HG002 SUZ12 GRCh37 30244037 30431818 1 187781 1 17:30264037-30328064 0.7914942 50677 TRUE TRUE 30244037 30431818 0.849873 0 0 0 0.780015 0.0033922 HG002 CCL4L1 GRCh37 34477484 34675848 1 31416 0.1583755 17:34538310-34540280 0 0 FALSE TRUE 34477484 34675848 1 0 0 0.0756186 1 0.1817517 HG002 CCL3L1 GRCh37 34477484 34675848 1 31416 0.1583755 17:34623842-34625731 0 0 FALSE TRUE 34477484 34675848 1 0 0 0.0756186 1 0.1817517 HG002 P2RX5 GRCh37 3555493 3619698 1 64205 1 17:3575493-3599698 0.7598017 18391 TRUE TRUE 3555493 3619698 0.3098357 0 0 0 0 0.0789814 HG002 KRTAP1-1 GRCh37 39176811 39217713 1 40902 1 17:39196811-39197713 0.3880266 350 TRUE TRUE 39176811 39217713 0.2167376 0 0 0 0 0.0314655 HG002 VPS53 GRCh37 391908 644957 1 248331 0.9813554 17:411908-624957 0.8263968 176063 FALSE TRUE 391908 644957 0.347494 0 0 0.0592771 0 0.0935313 HG002 G6PC3 GRCh37 42128103 42173709 1 45606 1 17:42148103-42153709 0.8835177 4953 TRUE TRUE 42128103 42173709 0.2117265 0 0 0 0 0 HG002 KANSL1 GRCh37 44087282 44329730 2 125487 0.5175831 17:44107282-44302733 0.4939652 96546 FALSE TRUE 44087282 44329730 0.6287121 0.4165801 0.3712136 0 0.2227241 0.0569277 HG002 HOXB8 GRCh37 46668739 46712478 1 43739 1 17:46688739-46692478 0.8922172 3336 TRUE TRUE 46668739 46712478 0.2281945 0 0 0 0 0 HG002 GIP GRCh37 47015916 47065958 1 50042 1 17:47035916-47045958 0.6951802 6981 TRUE TRUE 47015916 47065958 0.2189761 0 0 0 0 0.029775 HG002 GP1BA GRCh37 4815592 4858325 1 42733 1 17:4835592-4838325 0.7757044 2120 TRUE TRUE 4815592 4858325 0.171928 0 0 0 0 0.0143449 HG002 ENO3 GRCh37 4831387 4880426 1 49039 1 17:4851387-4860426 0.8909171 8053 TRUE TRUE 4831387 4880426 0.1833847 0 0 0 0 0.0125003 HG002 POLG2 GRCh37 62453902 62513154 1 52394 0.8842571 17:62473902-62493154 0.8794931 16932 FALSE TRUE 62453902 62513154 0.3465874 0 0 0.253156 0 0 HG002 TMC6 GRCh37 76086539 76148488 1 61949 1 17:76106539-76128488 0.8999043 19752 TRUE TRUE 76086539 76148488 0.333258 0 0 0 0 0.0209204 HG002 CANT1 GRCh37 76967799 77025949 1 58150 1 17:76987799-77005949 0.8669972 15736 TRUE TRUE 76967799 77025949 0.2159931 0 0 0 0 0.0406019 HG002 RNF213 GRCh37 78214665 78392586 1 177921 1 17:78234665-78372586 0.8186933 112915 TRUE TRUE 78214665 78392586 0.2969857 0 0.0112409 0 0 0.1304624 HG002 FSCN2 GRCh37 79475422 79524156 1 48734 1 17:79495422-79504156 0.6060224 5293 TRUE TRUE 79475422 79524156 0.5677145 0 0.0410391 0 0 0.0272294 HG002 GCGR GRCh37 79742008 79791889 1 32840 0.6583669 17:79762008-79771889 0 0 FALSE TRUE 79742008 79791889 0.4667709 0 0 0.3007157 0 0 HG002 ALOXE3 GRCh37 7979218 8042365 1 63147 1 17:7999218-8022365 0 0 TRUE TRUE 7979218 8042365 0.5847625 0 0 0 0 0.4583116 HG002 HES7 GRCh37 8003908 8047410 1 43502 1 17:8023908-8027410 0.5788121 2027 TRUE TRUE 8003908 8047410 0.6241322 0 0 0 0 0.4936555 HG002 ABR GRCh37 886758 1152315 1 265557 1 17:906758-1132315 0.7230722 163094 TRUE TRUE 886758 1152315 0.4808308 0 0 0 0 0.3029481 HG002 KATNAL2 GRCh37 44477455 44647658 2 150481 0.8841266 18:44497455-44627658 0.8495734 110617 FALSE TRUE 44477455 44647658 0.2408712 0.0936235 0.0940054 0 0 0.0031433 HG002 TCEB3C GRCh37 44534573 44576449 2 22154 0.5290381 18:44554573-44556449 0 0 FALSE TRUE 44534573 44576449 0.5567628 0.3805282 0.3820804 0 0 0.0127758 HG002 TYMS GRCh37 637604 693578 1 55974 1 18:657604-673578 0.8781145 14027 TRUE TRUE 637604 693578 0.2054347 0 0 0 0 0.0252439 HG002 ZNF407 GRCh37 72245106 72797627 2 502521 0.9095057 18:72265106-72777627 0.825375 423022 FALSE TRUE 72245106 72797627 0.1857975 0 0.0018099 0.0542966 0 0.0042695 HG002 GALR1 GRCh37 74942505 75000858 1 58353 1 18:74962505-74980858 0.819648 15043 TRUE TRUE 74942505 75000858 0.188902 0 0 0 0 0.0549758 HG002 CTDP1 GRCh37 77419801 77534510 1 114709 1 18:77439801-77514510 0.682729 51006 TRUE TRUE 77419801 77534510 0.4100899 0 0 0 0 0.2205581 HG002 TYK2 GRCh37 10441209 10511352 1 70143 1 19:10461209-10491352 0.4562253 13752 TRUE TRUE 10441209 10511352 0.4082517 0 0 0 0 0.2342928 HG002 STK11 GRCh37 1169406 1248428 1 79022 1 19:1189406-1228428 0.8126698 31712 TRUE TRUE 1169406 1248428 0.6029966 0 0 0 0 0.0958973 HG002 TRMT1 GRCh37 13195716 13248381 1 52665 1 19:13215716-13228381 0.9204895 11658 TRUE FALSE 13195716 13248381 0.2894522 0 0 0 0 0 HG002 CYP4F3 GRCh37 15731707 15793635 1 61928 1 19:15751707-15773635 0.8577161 18808 TRUE TRUE 15731707 15793635 0.4149496 0 0 0 0 0.1545666 HG002 CYP4F12 GRCh37 15762546 15827984 1 65438 1 19:15783567-15807984 0.7284269 17786 TRUE TRUE 15762546 15827984 0.4388582 0 0 0 0 0.1088358 HG002 TCF3 GRCh37 1589291 1672604 1 83313 1 19:1609291-1652604 0.8952047 38774 TRUE TRUE 1589291 1672604 0.4228872 0 0 0 0 0.0427904 HG002 CALR3 GRCh37 16569868 16627003 1 57135 1 19:16589868-16607003 0.8953604 15342 TRUE TRUE 16569868 16627003 0.1878008 0 0 0 0 0 HG002 MYO9B GRCh37 17166591 17345346 1 178755 1 19:17186591-17325346 0.7468632 103631 TRUE TRUE 17166591 17345346 0.310285 0 0 0 0 0.1764986 HG002 INSL3 GRCh37 17907321 17952383 1 45062 1 19:17927321-17932383 0.8676413 4392 TRUE TRUE 17907321 17952383 0.1820603 0 0 0 0 0 HG002 FKBP8 GRCh37 18622561 18674887 1 52326 1 19:18642561-18654887 0.8690573 10712 TRUE TRUE 18622561 18674887 0.2736498 0 0 0 0 0.0573329 HG002 LMNB2 GRCh37 2407636 2476994 1 69358 1 19:2427636-2456994 0.8932148 26223 TRUE TRUE 2407636 2476994 0.4605958 0 0 0 0 0.1801378 HG002 GPI GRCh37 34830385 34913061 1 82676 1 19:34850385-34893061 0.8767691 37417 TRUE TRUE 34830385 34913061 0.1950385 0 0.0241908 0 0 0.047039 HG002 GIPC3 GRCh37 3565551 3613539 1 47988 1 19:3585551-3593539 0.7916875 6324 TRUE TRUE 3565551 3613539 0.4840168 0 0 0 0 0.0533258 HG002 TBXA2R GRCh37 3574504 3626838 1 52334 1 19:3594504-3606838 0.8856008 10923 TRUE TRUE 3574504 3626838 0.5279168 0 0 0 0 0.048897500000000003 HG002 COX6B1 GRCh37 36119125 36169763 1 50638 1 19:36139125-36149763 0.8810866 9373 TRUE TRUE 36119125 36169763 0.2068407 0 0 0 0 0 HG002 IFNL3 GRCh37 39714246 39763662 1 49416 1 19:39734246-39735646 0.8585714 1202 TRUE TRUE 39714246 39763662 0.4266027 0 0 0 0 0.0136595 HG002 CYP2G1P GRCh37 41367420 41426413 1 58993 1 19:41396731-41406413 0.8334022 8069 TRUE TRUE 41367420 41426413 0.8022138 0 0 0 0.7302222 0.0466835 HG002 CREB3L3 GRCh37 4133598 4193051 1 59453 1 19:4153598-4173051 0.7974091 15512 TRUE TRUE 4133598 4193051 0.2759659 0 0 0 0 0 HG002 ETHE1 GRCh37 43990871 44051396 1 60525 1 19:44010871-44031396 0.878782 18037 TRUE TRUE 43990871 44051396 0.1939529 0 0 0 0 0.0106072 HG002 APOC1 GRCh37 45397504 45442606 1 45102 1 19:45417504-45422606 0.881223 4496 TRUE TRUE 45397504 45442606 0.2673496 0 0 0 0 0 HG002 APOC4 GRCh37 45425495 45472820 1 47325 1 19:45445495-45452820 0.8754949 6413 TRUE TRUE 45425495 45472820 0.2583835 0 0 0 0 0.0222504 HG002 APOC2 GRCh37 45429243 45472822 1 43579 1 19:45449243-45452822 0.897178 3211 TRUE TRUE 45429243 45472822 0.2725166 0 0 0 0 0.0242089 HG002 BLOC1S3 GRCh37 45662003 45705059 1 43056 1 19:45682003-45685059 0.9662958 2953 TRUE FALSE 45662003 45705059 0.384987 0 0 0 0 0.1319909 HG002 DMPK GRCh37 46252975 46305810 1 52835 1 19:46272975-46285810 0.7142968 9168 TRUE TRUE 46252975 46305810 0.3657803 0 0 0 0 0.0520678 HG002 FUT1 GRCh37 49231268 49278647 1 47379 1 19:49251268-49258647 0.8509283 6279 TRUE TRUE 49231268 49278647 0.2799341 0 0 0 0 0.0324405 HG002 BAX GRCh37 49438072 49485055 1 46983 1 19:49458072-49465055 0.8870113 6194 TRUE TRUE 49438072 49485055 0.2213779 0 0 0 0 0 HG002 TRPM4 GRCh37 49640998 49735093 1 94095 1 19:49660998-49715093 0.6681209 36142 TRUE TRUE 49640998 49735093 0.4026144 0 0 0 0 0.2118178 HG002 PNKP GRCh37 50344461 50391166 1 46705 1 19:50364461-50371166 0.2760626 1851 TRUE TRUE 50344461 50391166 0.6962638 0 0 0 0 0.5311851 HG002 SIGLEC16 GRCh37 50452857 50499071 1 46214 1 19:50472857-50479071 0.8884776 5521 TRUE TRUE 50452857 50499071 0.2862552 0 0 0 0 0 HG002 KLK4 GRCh37 51389608 51433994 1 44386 1 19:51409608-51413994 0.8162335 3580 TRUE TRUE 51389608 51433994 0.2771369 0 0 0 0 0.1478394 HG002 ETFB GRCh37 51828423 51889672 1 61249 1 19:51848423-51869672 0.6728787 14298 TRUE TRUE 51828423 51889672 0.4723669 0 0 0 0 0.2978008 HG002 NLRP12 GRCh37 54276857 54347648 1 70791 1 19:54296857-54327648 0.8806145 27115 TRUE TRUE 54276857 54347648 0.2572785 0 0 0 0 0.0386066 HG002 PRKCG GRCh37 54362444 54430906 1 68462 1 19:54382444-54410906 0.8560185 24364 TRUE TRUE 54362444 54430906 0.3585201 0 0 0 0 0.0457188 HG002 TFPT GRCh37 54590320 54639055 1 47370 0.9719914 19:54610320-54619055 0.2894104 2528 FALSE TRUE 54590320 54639055 0.53834 0 0 0 0 0.3523341 HG002 MBOAT7 GRCh37 54657107 54713733 1 56626 1 19:54677107-54693733 0.8599182 14297 TRUE TRUE 54657107 54713733 0.3019638 0 0 0 0 0.0391693 HG002 KIR3DL1 GRCh37 55215969 55398448 2 124063 0.6798755 19:55235969-55378448 0 0 FALSE TRUE 55215969 55398448 0.8663353 0 0 0 0.7018178 0.0041868 HG002 KIR2DL3 GRCh37 55229980 55315776 1 85796 1 19:55249980-55295776 0 0 FALSE TRUE 55229980 55315776 1 0 0 0 0.7657117 0.00528 HG002 KIR2DL1 GRCh37 55236086 55315774 1 79688 1 19:55281263-55295774 0 0 FALSE TRUE 55236086 55315774 1 0 0 0 0.8244027 0.0056596 HG002 NLRP7 GRCh37 55414877 55497680 1 82803 1 19:55434877-55477680 0.821648 35169 TRUE TRUE 55414877 55497680 0.4088862 0 0 0 0 0.2125285 HG002 NLRP2 GRCh37 55444498 55532510 1 88012 1 19:55464498-55512510 0.3183163 15283 TRUE TRUE 55444498 55532510 0.5465277 0 0 0 0 0.370529 HG002 GP6 GRCh37 55505073 55569632 1 64559 1 19:55525073-55549632 0.8465328 20790 TRUE TRUE 55505073 55569632 0.3754395 0 0 0 0 0.1305473 HG002 TNNT1 GRCh37 55624162 55680722 1 56560 1 19:55644162-55660722 0.1033213 1711 TRUE TRUE 55624162 55680722 0.6013437 0 0 0 0 0.2955976 HG002 TNNI3 GRCh37 55643137 55689141 1 46004 1 19:55663137-55669141 0.7393404 4439 TRUE TRUE 55643137 55689141 0.5723198 0 0 0 0 0.3634249 HG002 SBK3 GRCh37 56032023 56076909 1 44886 1 19:56052023-56056909 0.7629963 3728 TRUE TRUE 56032023 56076909 0.3811879 0 0 0 0 0.0907187 HG002 BSG GRCh37 551297 603493 1 52196 1 19:571297-583493 0.3968514 4840 TRUE TRUE 551297 603493 0.800751 0 0 0 0 0.4828722 HG002 ZNF419 GRCh37 57979079 58026048 1 46969 1 19:57999079-58006048 0.6282107 4378 TRUE TRUE 57979079 58026048 0.6335668 0 0 0 0.5269433 0.4492964 HG002 FUT3 GRCh37 5822899 5871485 2 46400 0.9550076 19:5842899-5851485 0.7143024 6133 FALSE TRUE 5822899 5871485 0.3830733 0 0 0 0 0.0905405 HG002 HCN2 GRCh37 569893 637159 1 67266 1 19:589893-617159 0.4445097 12120 TRUE TRUE 569893 637159 0.763625 0 0 0 0 0.3546219 HG002 SLC27A5 GRCh37 58970879 59043780 1 72901 1 19:58990879-59023780 0.8523449 28043 TRUE TRUE 58970879 59043780 0.2768824 0 0 0 0 0.039876 HG002 RFX2 GRCh37 5973175 6219583 1 246408 1 19:5993175-6199583 0.8758091 180774 TRUE TRUE 5973175 6219583 0.2381741 0 0 0 0 0.0779398 HG002 C3 GRCh37 6657715 6750573 1 92858 1 19:6677715-6730573 0.86844 45904 TRUE TRUE 6657715 6750573 0.2667945 0 0 0 0 0.0257167 HG002 INSR GRCh37 7092266 7346004 1 211823 0.8348099 19:7112266-7294045 0.8481067 154168 FALSE TRUE 7092266 7346004 0.3645808 0 0 0.0591161 0.1651901 0.0727916 HG002 STXBP2 GRCh37 7681767 7732759 1 50992 1 19:7701767-7712759 0.8286936 9109 TRUE TRUE 7681767 7732759 0.2832797 0 0 0 0 0.0295733 HG002 CD320 GRCh37 8336857 8393240 2 56383 1 19:8367011-8373240 0 0 FALSE TRUE 8336857 8393240 0.709345 0 0 0 0.526861 0.6612277 HG002 ELANE GRCh37 831014 876242 2 43802 0.9684709 19:851014-856242 0.8261285 4319 FALSE TRUE 831014 876242 0.6097772 0 0 0 0 0.1530468 HG002 CFD GRCh37 839453 883453 2 42574 0.9675909 19:859453-863453 0.784 3136 FALSE TRUE 839453 883453 0.6180227 0 0 0 0 0.0933182 HG002 ADAMTS10 GRCh37 8625126 8695620 1 62072 0.8805289 19:8645126-8675620 0.8555781 26090 FALSE TRUE 8625126 8695620 0.3780038 0 0 0.2127841 0 0.0081709 HG002 MUC16 GRCh37 8939520 9112018 2 144276 0.8363923 19:8959520-9092018 0.9710109 128657 FALSE FALSE 8939520 9112018 0.2478464 0 0 0 0 0.007716 HG002 KISS1R GRCh37 897287 941015 1 43728 1 19:917287-921015 0.8849249 3299 TRUE TRUE 897287 941015 0.5100622 0 0 0 0 0 HG002 KLF11 GRCh37 10162976 10214963 1 51987 1 2:10182976-10194963 0.8787019 10533 TRUE TRUE 10162976 10214963 0.1966261 0 0 0 0 0 HG002 RGPD3 GRCh37 106983830 107131493 1 147663 1 2:107021446-107084832 0.8762661 55543 TRUE TRUE 106983830 107131493 1 0 0 0 1 0.0204113 HG002 CFC1B GRCh37 131158798 131477508 2 266351 0.8357158 2:131278770-131285579 0 0 FALSE TRUE 131158798 131477508 1 0.0674594 0.0909918 0 1 0.0312133 HG002 CFC1 GRCh37 131158798 131477508 2 266351 0.8357158 2:131350339-131357123 0.0150354 102 FALSE TRUE 131158798 131477508 1 0.0674594 0.0909918 0 1 0.0312133 HG002 TPO GRCh37 1357995 1567483 1 209488 1 2:1377995-1547483 0.7632281 129358 TRUE TRUE 1357995 1567483 0.4091022 0 0 0 0 0.2401092 HG002 PXDN GRCh37 1615659 1768624 1 152965 1 2:1635659-1748624 0.8647192 97683 TRUE TRUE 1615659 1768624 0.2903998 0 0 0 0 0.0770503 HG002 CASP10 GRCh37 202027604 202114129 1 86525 1 2:202047604-202094129 0.9171843 42672 TRUE FALSE 202027604 202114129 0.1822363 0 0.0346721 0 0 0 HG002 INPP5D GRCh37 233904677 234136549 2 181872 0.78436380000000006 2:233924677-234116549 0.5509246 105707 FALSE TRUE 233904677 234136549 0.2344009 0 0 0.1293817 0 0.0125759 HG002 MLPH GRCh37 238374071 238483961 1 109890 1 2:238394071-238463961 0.8718987 60937 TRUE TRUE 238374071 238483961 0.2224133 0 0 0 0 0.0643644 HG002 TWIST2 GRCh37 239736673 239815893 1 42082 0.5312042 2:239756673-239795893 0.7014788 27512 FALSE TRUE 239736673 239815893 0.3216107 0 0 0.1893461 0 0.0334259 HG002 ANO7 GRCh37 242107924 242184792 1 76868 1 2:242127924-242164792 0.876207 32304 TRUE TRUE 242107924 242184792 0.2825363 0 0 0 0 0.0520242 HG002 D2HGDH GRCh37 242653994 242728231 1 74237 1 2:242673994-242708231 0.8356749 28611 TRUE TRUE 242653994 242728231 0.3812654 0 0 0 0 0.0596064 HG002 ABCG8 GRCh37 44046103 44125605 1 79502 1 2:44066103-44105605 0.5725533 22617 TRUE TRUE 44046103 44125605 0.2830621 0 0 0 0 0.0045659 HG002 PCBP1 GRCh37 70294585 70336332 1 41747 1 2:70314585-70316332 0.9416142 1645 TRUE FALSE 70294585 70336332 0.1952715 0 0 0 0 0 HG002 MOGS GRCh37 74668184 74712537 1 44353 1 2:74688184-74692537 0.8509074 3704 TRUE TRUE 74668184 74712537 0.2231191 0 0 0 0 0 HG002 RPIA GRCh37 88971162 89087583 1 116421 1 2:88991162-89050452 0.6145556 36437 TRUE TRUE 88971162 89087583 0.5693733 0 0 0 0.2029445 0.5117032 HG002 IGKC GRCh37 89136674 89177196 0 0 0 2:89156674-89157196 0 0 FALSE TRUE 89136674 89177196 1 0 0 0 0 1 HG002 IGKV1-5 GRCh37 89226819 89630436 0 0 0 2:89246819-89247475 0 0 FALSE TRUE 89226819 89630436 1 0 0 0.0371639 0.9793913 1 HG002 SNTG2 GRCh37 926554 1391385 1 464831 1 2:946554-1371385 0.7997486 339758 TRUE TRUE 926554 1391385 0.3312451 0 0 0 0 0.1787811 HG002 ASIP GRCh37 32762375 32877150 1 114775 1 20:32782375-32857150 0.8625744 64499 FALSE TRUE 32762375 32877150 0.2908386 0 0 0 0 0.0568765 HG002 SEMG1 GRCh37 43815638 43858413 1 42775 1 20:43835638-43838413 0.6900901 1915 TRUE TRUE 43815638 43858413 0.1490824 0 0 0 0 0.0197779 HG002 PLTP GRCh37 44507399 44560794 1 53395 1 20:44527399-44540794 0.8894364 11914 TRUE TRUE 44507399 44560794 0.155258 0 0 0 0 0.0252271 HG002 CHRNA4 GRCh37 61955420 62029753 1 74333 1 20:61975420-62009753 0.8357557 28694 TRUE TRUE 61955420 62029753 0.5400562 0 0 0 0 0.0929735 HG002 EEF1A2 GRCh37 62099366 62150505 1 51139 1 20:62119366-62130505 0.7790645 8678 TRUE TRUE 62099366 62150505 0.5231428 0 0 0 0 0.0655273 HG002 PTK6 GRCh37 62139778 62188723 1 48945 1 20:62159778-62168723 0.8427054 7538 TRUE TRUE 62139778 62188723 0.5403616 0 0 0 0 0.0288487 HG002 OPRL1 GRCh37 62691526 62751996 1 60470 1 20:62711526-62731996 0.7535418 15425 TRUE TRUE 62691526 62751996 0.5077063 0 0 0 0 0.1660327 HG002 MYT1 GRCh37 62763144 62893604 1 130460 1 20:62783144-62873604 0.8546761 77314 TRUE TRUE 62763144 62893604 0.2775717 0 0 0 0 0.1218074 HG002 KCNE1 GRCh37 35798988 35904573 1 105585 1 21:35818988-35884573 0.2502706 16414 TRUE TRUE 35798988 35904573 0.6759672 0 0 0 0 0 HG002 CBR3 GRCh37 37487210 37538864 1 51654 1 21:37507210-37518864 0.8300154 9673 TRUE TRUE 37487210 37538864 0.2065281 0 0 0 0 0.0216247 HG002 NDUFV3 GRCh37 44279754 44353414 1 73660 1 21:44299754-44333414 0.8520796 28681 TRUE TRUE 44279754 44353414 0.2416372 0 0 0 0 0.0449226 HG002 CBS GRCh37 44453301 44517053 1 63752 1 21:44473301-44497053 0 0 TRUE TRUE 44453301 44517053 0.9643148 0 0 0 0 0.0059292 HG002 U2AF1 GRCh37 44493066 44547697 1 54631 1 21:44513066-44527697 0 0 TRUE TRUE 44493066 44547697 1 0 0 0 0 0 HG002 CRYAA GRCh37 44569118 44612915 1 43797 1 21:44589118-44592915 0 0 TRUE TRUE 44569118 44612915 0.9109985 0 0 0 0 0.0095897 HG002 TRAPPC10 GRCh37 45412200 45546433 1 134233 1 21:45432200-45526433 0.8553373 80601 TRUE TRUE 45412200 45546433 0.322566 0 0 0 0 0 HG002 DNMT3L GRCh37 45646222 45702099 1 55877 1 21:45666222-45682099 0.4806953 7632 TRUE TRUE 45646222 45702099 0.6378116 0 0 0 0 0.009503 HG002 COL18A1 GRCh37 46805052 46953634 1 148582 1 21:46825052-46933634 0.7063049 76692 TRUE TRUE 46805052 46953634 0.570621 0 0 0 0 0.2066266 HG002 COL6A1 GRCh37 47381651 47444964 1 63313 1 21:47401651-47424964 0.4437867 10346 TRUE TRUE 47381651 47444964 0.6914062 0 0 0 0 0.4933742 HG002 COL6A2 GRCh37 47498011 47572763 1 73832 0.9876927 21:47518011-47552763 0.8923515 31011 FALSE TRUE 47498011 47572763 0.5181266 0 0 0 0 0.1436483 HG002 FTCD GRCh37 47536176 47595481 2 51750 0.8726077 21:47556176-47575481 0.767366 14814 FALSE TRUE 47536176 47595481 0.5834584 0 0 0 0 0.1691763 HG002 DGCR6 GRCh37 18642490 18921751 3 106112 0.3799743 22:18893541-18901751 0 0 FALSE TRUE 18642490 18921751 1 0.3985232 0.3186983 0 0.9659064 0.0832662 HG002 PRODH GRCh37 18642490 18964243 3 148604 0.4618574 22:18900294-18924066 0 0 FALSE TRUE 18642490 18964243 0.9967646 0.3458927 0.2952575 0 0.9206752 0.073227 HG002 GSTT1 GRCh37 24356133 24404807 1 14545 0.2988248 22:24376133-24384680 0 0 FALSE TRUE 24356133 24404807 1 0 0 0 0.377717 1 HG002 CABIN1 GRCh37 24386422 24594596 1 204334 0.9815539 22:24407642-24574596 0.9529451 159098 FALSE FALSE 24386422 24594596 0.2630972 0 0 0 0.0883155 0.1306407 HG002 APOBEC3H GRCh37 39465239 39520072 1 54833 1 22:39493229-39500072 0.896975 6138 TRUE TRUE 39465239 39520072 0.3919355 0 0 0 0.2135028 0.0312585 HG002 NDUFA6 GRCh37 42461529 42506959 1 45430 1 22:42481529-42486959 0.7685083 4173 TRUE TRUE 42461529 42506959 0.2441779 0 0 0 0 0 HG002 CYB5R3 GRCh37 42993846 43065574 1 71728 1 22:43013846-43045574 0.8826904 28006 TRUE TRUE 42993846 43065574 0.2412865 0 0 0 0 0.0258058 HG002 A4GALT GRCh37 43068127 43137304 1 69177 1 22:43088127-43117304 0.8710285 25414 TRUE TRUE 43068127 43137304 0.1885309 0 0 0 0 0.0271767 HG002 TTLL1 GRCh37 43415522 43505434 1 89912 1 22:43435522-43485434 0.8691096 43379 TRUE TRUE 43415522 43505434 0.2695969 0 0 0 0 0.0132797 HG002 MLC1 GRCh37 50477820 50544331 1 66511 1 22:50497820-50524331 0.8904228 23606 TRUE TRUE 50477820 50544331 0.3408008 0 0 0 0 0.0263265 HG002 TUBGCP6 GRCh37 50636118 50703421 1 67303 1 22:50656118-50683421 0.8750321 23891 TRUE TRUE 50636118 50703421 0.5047175 0 0 0 0 0.0525831 HG002 SHANK3 GRCh37 51092843 51244566 2 147262 0.9705977 22:51112843-51171726 0.8433843 49661 FALSE TRUE 51092843 51244566 0.6211715 0 0 0.0988644 0.4325185 0.0672805 HG002 RPN1 GRCh37 128318817 128419918 1 101101 1 3:128338817-128399918 0.712918 43560 TRUE TRUE 128318817 128419918 0.3346752 0 0 0 0 0.1600281 HG002 BFSP2 GRCh37 133098839 133214066 1 115227 1 3:133118839-133194066 0.8777965 66034 TRUE TRUE 133098839 133214066 0.2117386 0 0 0 0 0.0650802 HG002 PCCB GRCh37 135949148 136076738 1 127590 1 3:135969148-136056738 0.8342277 73070 TRUE TRUE 135949148 136076738 0.1790109 0 0 0 0 0.0775531 HG002 DAZL GRCh37 16580031 16731813 1 151782 1 3:16628299-16711813 0.8181622 68328 TRUE TRUE 16580031 16731813 0.5103043 0 0 0 0.3813627 0.3432159 HG002 EIF2B5 GRCh37 183832826 184422546 1 589720 1 3:183852826-183863915 0.8852016 9816 TRUE TRUE 183832826 184422546 0.158716 0 0 0 0 0.0088059 HG002 KNG1 GRCh37 186415065 186481743 1 66678 1 3:186435065-186461743 0.701027 18702 TRUE TRUE 186415065 186481743 0.3792105 0 0.0299949 0 0 0.2308708 HG002 MUC4 GRCh37 195447355 195559148 1 81356 0.7277378 3:195473636-195539148 0.5053578 33107 FALSE TRUE 195447355 195559148 0.6345835 0.2648824 0.2204521 0 0 0.2557226 HG002 TM4SF19 GRCh37 196026213 196085374 1 59161 1 3:196046213-196065374 0.8995877 17237 TRUE TRUE 196026213 196085374 0.1893308 0 0 0 0 0.0233769 HG002 CHL1 GRCh37 218279 471090 1 252811 1 3:238279-451090 0.8685688 184841 TRUE TRUE 218279 471090 0.2085669 0 0.0949326 0 0 0.0052094 HG002 LZTFL1 GRCh37 45844808 45977534 1 132726 1 3:45864808-45957534 0.831881 77137 TRUE TRUE 45844808 45977534 0.1843798 0 0 0 0 0.1132408 HG002 RHOA GRCh37 49376578 49470431 1 93853 1 3:49396578-49450431 0.8729133 47009 TRUE TRUE 49376578 49470431 0.1946981 0 0 0 0 0.0031965 HG002 MST1R GRCh37 49904435 49961299 1 56864 1 3:49924435-49941299 0.8506286 14345 TRUE TRUE 49904435 49961299 0.1507105 0 0 0 0 0.0120287 HG002 HYAL1 GRCh37 50317320 50369812 1 52492 1 3:50337320-50349812 0.7665706 9576 TRUE TRUE 50317320 50369812 0.3005982 0 0 0 0 0 HG002 FGFRL1 GRCh37 983724 1040685 1 56961 1 4:1003724-1020685 0.8063204 13676 TRUE TRUE 983724 1040685 0.7916469 0 0 0 0 0.0879198 HG002 RNF212 GRCh37 1030038 1127350 1 97312 1 4:1050038-1107350 0.8862367 50792 TRUE TRUE 1030038 1127350 0.2785062 0 0 0 0 0.0695392 HG002 UVSSA GRCh37 1321054 1401837 1 80783 1 4:1341054-1381837 0.9372042 38222 TRUE FALSE 1321054 1401837 0.54509 0 0 0 0 0.0975577 HG002 GYPE GRCh37 144745081 145021017 2 86309 0.3127863 4:144792020-144826716 0 0 FALSE TRUE 144745081 145021017 1 0 0.0072481 0 1 1 HG002 GYPB GRCh37 144745081 145081844 2 147136 0.4369126 4:144917257-145061844 0 0 FALSE TRUE 144745081 145081844 1 0 0.0059389 0 0.9185213 1 HG002 GYPA GRCh37 144745081 145081904 2 147196 0.4370129 4:145030457-145061904 0 0 FALSE TRUE 144745081 145081904 1 0 0.0059378 0 0.9183577 1 HG002 PDLIM3 GRCh37 186402851 186476766 1 73915 1 4:186422851-186456766 0.872151 29579 TRUE TRUE 186402851 186476766 0.181127 0 0 0 0 0.0535345 HG002 FAT1 GRCh37 187488937 187667876 1 178939 1 4:187508937-187647876 0.8908226 123770 TRUE TRUE 187488937 187667876 0.1873935 0.0562147 0 0 0 0.0151057 HG002 DUX4 GRCh37 190796192 191043893 1 190191 0.7678249 4:191005267-191007077 0 0 FALSE TRUE 190796192 191043893 1 0.1339195 0.0807425 0.0590107 1 0.0158578 HG002 ZNF141 GRCh37 311603 398653 1 87050 1 4:331603-378653 0.8985335 42276 TRUE TRUE 311603 398653 0.4873291 0 0 0 0.2023435 0.0034808 HG002 DOK7 GRCh37 3445033 3523200 1 78167 1 4:3465033-3503200 0.8781146 33515 TRUE TRUE 3445033 3523200 0.6079292 0 0 0 0 0.079279 HG002 LRPAP1 GRCh37 3488103 3565724 1 53469 0.6888471 4:3508103-3534286 0.8822901 23101 FALSE TRUE 3488103 3565724 0.7133121 0 0 0 0.3802837 0.1388671 HG002 PDE6B GRCh37 599373 684571 1 85198 1 4:619373-664571 0.8611001 38920 TRUE TRUE 599373 684571 0.4409258 0 0 0 0 0.0497664 HG002 UGT2B17 GRCh37 69370648 69454245 1 4864 0.0581839 4:69402902-69434245 0.827617 25940 FALSE TRUE 69370648 69454245 0.8310825 0 0 0 0.7792504 0 HG002 UGT2B28 GRCh37 70102650 70184558 0 0 0 4:70146217-70160768 0.637482 9276 FALSE TRUE 70102650 70184558 1 0 0 0 1 0.0100845 HG002 UGT2A2 GRCh37 70434135 70525360 1 91225 1 4:70454135-70505360 0.8179795 41901 TRUE TRUE 70434135 70525360 0.3336585 0 0 0 0 0.0944478 HG002 UGT2A1 GRCh37 70434135 70538965 1 104830 1 4:70454135-70518965 0.8545889 55403 TRUE TRUE 70434135 70538965 0.3509969 0 0 0 0 0.0821902 HG002 AFP GRCh37 74276855 74341891 1 65036 1 4:74296855-74321891 0.9295415 23272 TRUE FALSE 74276855 74341891 0.1885571 0 0.0615044 0 0 0.0077803 HG002 GAK GRCh37 823064 946161 1 123097 1 4:843064-926161 0.8566254 71183 TRUE TRUE 823064 946161 0.4191004 0 0 0 0 0.0691893 HG002 HMX1 GRCh37 8827802 8893543 1 65741 1 4:8847802-8873543 0 0 TRUE TRUE 8827802 8893543 1 0 0 0.0821557 0 0 HG002 DSPP GRCh37 88509681 88558062 1 48381 1 4:88529681-88538062 0.6152011 5156 TRUE TRUE 88509681 88558062 0.1615924 0 0 0 0 0.0698415 HG002 EIF4E GRCh37 99772835 99871788 2 95640 0.9665195 4:99792835-99851788 0.8800231 51880 FALSE TRUE 99772835 99871788 0.1912221 0 0.0303174 0 0 0.0532374 HG002 SLC6A18 GRCh37 1205470 1266304 1 60834 1 5:1225470-1246304 0.8340213 17376 TRUE TRUE 1205470 1266304 0.4549101 0 0 0 0 0.0809087 HG002 TERT GRCh37 1233262 1315184 1 81922 1 5:1253262-1295184 0.69615 29184 TRUE TRUE 1233262 1315184 0.4467908 0 0 0 0 0.1788286 HG002 SAR1B GRCh37 133916834 134004961 1 88127 1 5:133936834-133984961 0.9073285 43667 TRUE FALSE 133916834 134004961 0.189329 0 0 0 0 0.013855 HG002 MYOT GRCh37 137183480 137243540 1 60060 1 5:137203480-137223540 0.9237288 18530 TRUE FALSE 137183480 137243540 0.1700799 0 0.01665 0 0 0 HG002 SLC6A3 GRCh37 1372909 1465545 1 92636 1 5:1392909-1445545 0.8947489 47096 TRUE TRUE 1372909 1465545 0.3129669 0 0 0 0 0.0655901 HG002 PCDHA10 GRCh37 140214046 140411929 1 197883 1 5:140235595-140391929 0.8425422 131718 TRUE TRUE 140214046 140411929 0.3483927 0 0 0 0 0.2221009 HG002 NPM1 GRCh37 170794120 170858141 1 64021 1 5:170814120-170838141 0.8937596 21469 TRUE TRUE 170794120 170858141 0.2169444 0 0 0 0 0.0322863 HG002 FLT4 GRCh37 180008506 180096624 1 88118 1 5:180028506-180076624 0.7759882 37339 TRUE TRUE 180008506 180096624 0.391668 0 0 0 0 0.1230623 HG002 SDHA GRCh37 198356 305493 2 103922 0.9699917 5:218356-256815 0.8356692 32139 FALSE TRUE 198356 305493 0.9528828 0 0 0 0.8507892 0.3113303 HG002 MARVELD2 GRCh37 68690939 68760157 1 69218 1 5:68710939-68740157 0.8956123 26168 TRUE TRUE 68690939 68760157 0.2129215 0 0 0 0 0.0369702 HG002 OCLN GRCh37 68768119 70305412 6 709223 0.4613454 5:68788119-68853931 0.89236 58728 FALSE TRUE 68768119 70305412 0.9672197 0.035342 0.2153135 0 0.9599315 0.0553174 HG002 SMN2 GRCh37 68829716 70305412 6 647626 0.4388614 5:69345350-69374349 0.6311252 18302 FALSE TRUE 68829716 70305412 1 0.0368172 0.2243009 0 1 0.0563863 HG002 SMN1 GRCh37 68829716 70305412 6 647626 0.4388614 5:70220768-70249769 0.0756526 2194 TRUE TRUE 68829716 70305412 1 0.0368172 0.2243009 0 1 0.0563863 HG002 NAIP GRCh37 68829716 70746224 7 1052381 0.5491138 5:70264310-70320941 0 0 FALSE TRUE 68829716 70746224 1 0.0371321 0.1951466 0 0.9970577 0.1056025 HG002 TTC37 GRCh37 94779599 94910711 1 131112 1 5:94799599-94890711 0.9047326 82432 TRUE FALSE 94779599 94910711 0.1772073 0 0.0610165 0 0 0 HG002 LIX1 GRCh37 96407574 96498576 1 91002 1 5:96427574-96478576 0.8565938 43688 TRUE TRUE 96407574 96498576 0.1560955 0 0.0769214 0 0 0 HG002 SEC63 GRCh37 108168960 108299393 1 130433 1 6:108188960-108279393 0.65865340000000006 59564 TRUE TRUE 108168960 108299393 0.3778875 0 0 0 0 0.2282014 HG002 PCMT1 GRCh37 150050579 150152556 1 101977 1 6:150070579-150132556 0.8875228 55006 TRUE TRUE 150050579 150152556 0.2014768 0 0 0 0 0.0227012 HG002 SLC22A1 GRCh37 160522821 160599750 1 76929 1 6:160542821-160579750 0.9004035 33251 TRUE FALSE 160522821 160599750 0.1832989 0 0 0 0 0.0595744 HG002 LPA GRCh37 160932515 161107407 2 124833 0.7137719 6:160952515-161087407 0.6426994 86695 FALSE TRUE 160932515 161107407 0.406205 0.2235551 0.2401482 0 0.2431158 0.2035542 HG002 SMOC2 GRCh37 168821831 169093984 1 272153 1 6:168841831-169073984 0.8544968 198374 TRUE TRUE 168821831 169093984 0.2676436 0 0 0 0 0.0989921 HG002 THBS2 GRCh37 169595875 169674139 1 78264 1 6:169615875-169654139 0.8301014 31763 TRUE TRUE 169595875 169674139 0.2981703 0.0325181 0 0 0 0.1007743 HG002 OR12D2 GRCh37 29344416 29385448 1 41032 1 6:29364416-29365448 1 1032 FALSE FALSE 29344416 29385448 1 0 0 0 0 0.0129411 HG002 HLA-B GRCh37 31283726 31344965 1 61239 1 6:31321649-31324965 0.9577805 3176 FALSE FALSE 31283726 31344965 1 0 0 0 0.7273796 0.5799735 HG002 NFKBIL1 GRCh37 31494647 31546606 1 51959 1 6:31514647-31526606 0.8984029 10744 FALSE TRUE 31494647 31546606 1 0 0 0 0 0 HG002 NCR3 GRCh37 31536672 31580762 1 44090 1 6:31556672-31560762 0.8383863 3429 FALSE TRUE 31536672 31580762 1 0 0 0 0 0 HG002 HLA-DRB1 GRCh37 32526546 32577625 1 13017 0.2548406 6:32546546-32557625 0 0 FALSE TRUE 32526546 32577625 1 0 0.2153527 0 0.5513225 0.9129584 HG002 HLA-DQB1 GRCh37 32607244 32656160 1 48916 1 6:32627244-32636160 0.692463 6174 FALSE TRUE 32607244 32656160 1 0 0 0 0 1 HG002 TAPBP GRCh37 33247471 33302164 1 54693 1 6:33267471-33282164 0.8285578 12174 FALSE TRUE 33247471 33302164 1 0 0 0 0 0 HG002 DAXX GRCh37 33266335 33317046 1 50711 1 6:33286335-33297046 0.8470731 9073 FALSE TRUE 33266335 33317046 1 0 0 0 0 0 HG002 LHFPL5 GRCh37 35753070 35821651 2 56353 0.8216999 6:35773070-35801651 0.9335573 26682 FALSE FALSE 35753070 35821651 0.318368 0.1783001 0.1312317 0 0 0.0283898 HG002 SLC17A5 GRCh37 74283102 74383878 1 100776 1 6:74303102-74363878 0.7811143 47473 TRUE TRUE 74283102 74383878 0.3236485 0 0 0 0 0.1922878 HG002 ZAN GRCh37 100311249 100415419 1 104170 1 7:100331249-100395419 0.7182952 46093 TRUE TRUE 100311249 100415419 0.3583757 0 0 0 0 0.1999616 HG002 MUC3A GRCh37 100527187 100631118 1 23466 0.2257844 7:100547187-100611118 0 0 FALSE TRUE 100527187 100631118 0.3153054 0 0.0577306 0.288653 0 0.0279512 HG002 LAMB1 GRCh37 107544244 107663700 1 119456 1 7:107564244-107643700 0.8773158 69708 TRUE TRUE 107544244 107663700 0.1635163 0 0.0753415 0 0 0 HG002 MEST GRCh37 130106012 130166133 1 48511 0.8068894 7:130126012-130146133 0.6515581 13110 FALSE TRUE 130106012 130166133 0.347599 0 0 0.2494968 0 0.0057218 HG002 KLF14 GRCh37 130397401 130438888 1 41487 1 7:130417401-130418888 0.8903833 1324 TRUE TRUE 130397401 130438888 0.1342589 0 0 0 0 0.0085569 HG002 BRAF GRCh37 140399127 140644564 1 245437 1 7:140419127-140624564 0.8976961 184420 TRUE TRUE 140399127 140644564 0.2317173 0 0 0 0 0.0703847 HG002 TRBV9 GRCh37 142219537 142260058 1 40521 1 7:142239537-142240058 0 0 TRUE TRUE 142219537 142260058 1 0 0 0 0 0 HG002 PRSS3P2 GRCh37 142439407 142502416 2 31218 0.495453 7:142478064-142482416 0.3961397 1724 FALSE TRUE 142439407 142502416 0.868003 0 0.0793537 0 0.6312114 0.1225222 HG002 KMT2C GRCh37 151812010 152153090 1 341080 1 7:151832010-152133090 0.8117178 244392 TRUE TRUE 151812010 152153090 0.5367274 0 0.0087956 0 0.388683 0.0626011 HG002 DPP6 GRCh37 153564182 154705995 2 1041813 0.91242 7:153584182-154685995 0.8276522 911918 FALSE TRUE 153564182 154705995 0.3031775 0 0 0.026274 0.1833785 0.028425 HG002 PTPRN2 GRCh37 157311750 158400480 2 1088720 0.9999908 7:157331750-158380480 0.7704901 808036 FALSE TRUE 157311750 158400480 0.3883102 0 0.003674 0 0.0112608 0.1870418 HG002 FAM20C GRCh37 172969 320711 2 97742 0.6615722 7:192969-300711 0.0046407 500 FALSE TRUE 172969 320711 0.598381 0 0 0.2030567 0 0.3147649 HG002 NOD1 GRCh37 30444143 30538400 1 94257 1 7:30464143-30518400 0.9928489 53869 TRUE FALSE 30444143 30538400 0.2592274 0 0 0 0 0.0053683 HG002 PPIA GRCh37 44816279 44884163 1 67884 1 7:44836279-44864163 0.8685626 24219 TRUE TRUE 44816279 44884163 0.1913853 0 0 0 0 0 HG002 IKZF1 GRCh37 50323720 50492799 2 129079 0.7634242 7:50343720-50472799 0.456697 58950 FALSE TRUE 50323720 50492799 0.2222393 0 0 0.1774319 0 0 HG002 SLC29A4 GRCh37 5285775 5369112 1 83337 1 7:5314000-5346501 0.882219 28673 TRUE TRUE 5285775 5369112 0.9914924 0 0 0 0.9910364 0 HG002 PSPH GRCh37 56058744 56139297 1 80553 1 7:56078744-56119297 0.8963085 36348 TRUE TRUE 56058744 56139297 0.5012476 0 0 0 0.3558527 0 HG002 ZNF479 GRCh37 56792420 57234405 2 441983 0.9999955 7:57187321-57207571 0.8921975 18067 FALSE TRUE 56792420 57234405 0.9734199 0 0 0 0.9646888 0.0677738 HG002 PMS2 GRCh37 5889826 6068756 2 84798 0.4739172 7:6012870-6048756 0.861478 30915 FALSE TRUE 5889826 6068756 0.8602414 0 0 0 0.8323311 0.0157212 HG002 GUSB GRCh37 65405671 65469649 1 63978 1 7:65425671-65447301 0.889043 19230 TRUE TRUE 65405671 65469649 0.3979649 0 0 0 0 0 HG002 CLIP2 GRCh37 73683805 73840273 1 156468 1 7:73703805-73820273 0.7844644 91365 TRUE TRUE 73683805 73840273 0.3090472 0 0 0 0 0.1366286 HG002 GTF2I GRCh37 74051994 74338635 1 286641 1 7:74071994-74175026 0.9301867 95839 TRUE FALSE 74051994 74338635 0.7408989 0 0 0 0.6842148 0.0833377 HG002 NCF1 GRCh37 74142511 74338635 1 196124 1 7:74188309-74203659 0.9110098 13984 TRUE FALSE 74142511 74338635 1 0 0 0 1 0.1218005 HG002 GTF2IRD2 GRCh37 74142511 74338635 1 196124 1 7:74210483-74267847 0.1658183 9512 TRUE TRUE 74142511 74338635 1 0 0 0 1 0.1218005 HG002 NCF1C GRCh37 74489986 74715724 1 153788 0.6812677 7:74572445-74587848 0 0 FALSE TRUE 74489986 74715724 1 0.2897829 0.0487291 0.0664487 1 0 HG002 HEATR2 GRCh37 746338 849190 1 102852 1 7:766338-829190 0.8345956 52456 FALSE TRUE 746338 849190 0.3397406 0 0 0 0 0.0757593 HG002 GPIHBP1 GRCh37 144275068 144319044 1 43976 1 8:144295068-144299044 0 0 TRUE TRUE 144275068 144319044 0.5546207 0 0 0 0 0.4177506 HG002 MAFA GRCh37 144481352 144532576 1 51224 1 8:144501352-144512576 0.90538130000000006 10162 TRUE FALSE 144481352 144532576 0.59273 0 0 0 0 0.0763509 HG002 DLGAP2 GRCh37 1429532 1676642 1 247110 1 8:1449532-1656642 0.8623388 178599 FALSE TRUE 1429532 1676642 0.3024524 0 0 0 0 0.0933714 HG002 ARHGEF10 GRCh37 1752142 1926807 1 174665 1 8:1772142-1906807 0.7370883 99260 TRUE TRUE 1752142 1926807 0.4042081 0 0 0 0 0.2509318 HG002 IKBKB GRCh37 42108820 42209973 1 101153 1 8:42128820-42189973 0.8725982 53362 TRUE TRUE 42108820 42209973 0.2498097 0 0 0 0 0.1459176 HG002 IMPA1 GRCh37 82550196 82618928 1 68732 1 8:82570196-82598928 0.8992413 25837 TRUE TRUE 82550196 82618928 0.1853867 0 0 0 0 0.0373771 HG002 CDH17 GRCh37 95119399 95249531 1 130132 1 8:95139399-95229531 0.9017996 81281 TRUE FALSE 95119399 95249531 0.1461362 0 0.061476 0 0 0.0026435 HG002 MUSK GRCh37 113411051 113583859 1 172808 1 9:113431051-113563859 0.8247169 109529 TRUE TRUE 113411051 113583859 0.2731066 0 0.0983751 0 0 0.0298424 HG002 SLC27A4 GRCh37 131082925 131143749 1 60824 1 9:131102925-131123749 0.8435459 17566 TRUE TRUE 131082925 131143749 0.1904676 0 0 0 0 0.0327831 HG002 PKN3 GRCh37 131444802 131503197 1 58395 1 9:131464802-131483197 0.8482196 15603 TRUE TRUE 131444802 131503197 0.3353541 0 0 0 0 0.005497 HG002 CEL GRCh37 135917365 135967248 2 26530 0.5318445 9:135937365-135947248 0 0 FALSE TRUE 135917365 135967248 0.6032315 0.4226891 0 0 0.2355512 0.0296694 HG002 ABO GRCh37 136100230 136170617 1 70387 1 9:136125788-136150617 0.8979822 22296 TRUE TRUE 136100230 136170617 0.4140537 0 0 0 0.1832441 0.0218222 HG002 ADAMTSL2 GRCh37 136377286 136460641 2 80547 0.9663128 9:136397286-136440641 0.155553 6744 FALSE TRUE 136377286 136460641 0.8135685 0 0 0 0 0.6994061 HG002 SOHLH1 GRCh37 138565253 138611374 1 46121 1 9:138585253-138591374 0.8885803 5439 TRUE TRUE 138565253 138611374 0.4808005 0 0 0 0 0.0336073 HG002 INPP5E GRCh37 139303071 139354274 1 51203 1 9:139323071-139334274 0.8751227 9804 TRUE TRUE 139303071 139354274 0.3208601 0 0 0 0 0.0253305 HG002 MAN1B1 GRCh37 139961379 140023635 1 62256 1 9:139981379-140003635 0.8244518 18349 TRUE TRUE 139961379 140023635 0.4560685 0 0 0 0 0.0700173 HG002 GRIN1 GRCh37 140012842 140083207 1 70365 1 9:140032842-140063207 0.8465009 25704 TRUE TRUE 140012842 140083207 0.5432531 0 0 0 0 0.0251546 HG002 NSMF GRCh37 140322022 140373786 0 0 0 9:140342022-140353786 0.8323699 9792 FALSE TRUE 140322022 140373786 0.6075265 0 0 0 0 0.0475234 HG002 EHMT1 GRCh37 140493444 140784468 2 289310 0.9941105 9:140513444-140764468 0.8879191 222889 FALSE TRUE 140493444 140784468 0.2931305 0 0.0256611 0 0 0.0726504 HG002 KCNV2 GRCh37 2697502 2750037 1 52535 1 9:2717502-2730037 0.8876745 11127 TRUE TRUE 2697502 2750037 0.1156182 0 0 0 0 0.0219282 HG002 GALT GRCh37 34618130 34671032 1 52902 1 9:34638130-34651032 0.8715703 11245 TRUE TRUE 34618130 34671032 0.1955314 0 0 0 0 0 HG002 FXN GRCh37 71630175 71735094 1 104919 1 9:71650175-71715094 0.5033041 32674 TRUE TRUE 71630175 71735094 0.4154062 0 0 0 0 0.2972293 HG002 TJP2 GRCh37 71716209 71890124 1 173915 1 9:71736209-71870124 0.8980398 120261 TRUE TRUE 71716209 71890124 0.1811517 0 0 0 0 0.0549349 HG002 SPATA31C1 GRCh37 90509408 90558572 2 48428 0.9850297 9:90529408-90538572 0.3129638 2868 FALSE TRUE 90509408 90558572 0.8028029 0 0 0 0.7004108 0.2078147 HG002 EXTL2 GRCh38 100852372 100915179 1 62807 1 chr1:100872372-100895179 0.358618 8179 TRUE TRUE 100852372 100915179 0.3836674 0.2706705 0 0 0 0 HG002 AGRN GRCh38 1000120 1079032 1 78912 1 chr1:1020120-1056118 0.8464359 30470 TRUE TRUE 1000120 1079032 0.755069 0 0 0 0 0.2005905 HG002 GSTM1 GRCh38 109667814 109729039 2 55470 0.9060025 chr1:109687814-109709039 0.7602355 16136 FALSE TRUE 109667814 109729039 0.7392569 0 0 0 0.6988158 0.0064026 >90% included by the dip.bed but had multiple contigs or a break in the assembly-assembly alignment HG002 MASP2 GRCh38 11006523 11067239 1 60716 1 chr1:11026523-11047239 0.7385595 15300 TRUE TRUE 11006523 11067239 0.2782957 0 0 0 0 0.0575137 HG002 LRIG2 GRCh38 113053198 113152260 1 99062 1 chr1:113073198-113132260 0.7929464 46833 TRUE TRUE 113053198 113152260 0.2863661 0 0 0 0 0.2149058 HG002 VANGL1 GRCh38 115621970 115718224 1 96254 1 chr1:115641970-115698224 0.8962207 50416 TRUE TRUE 115621970 115718224 0.1442122 0 0 0 0 0.055447 HG002 NPPA GRCh38 11825709 11868345 1 42636 1 chr1:11845709-11848345 0.7109256 1874 TRUE TRUE 11825709 11868345 0.1215639 0 0 0 0 0 HG002 NOTCH2 GRCh38 119891553 120533096 2 521864 0.8134513 chr1:119911553-120100779 0.8834674 167175 FALSE TRUE 119891553 120533096 0.8597927 0.0311748 0 0 0.8477203 0.0315256 Evidence for duplication in HG002 vs GRCh38 HG002 PDE4DIP GRCh38 148400000 149843518 4 540547 0.374465 chr1:148808181-149048286 0.5905625 141797 FALSE TRUE 148400000 149843518 1 0.265324 0.1389169 0 1 0.0638052 Evidence for duplication in HG002 vs GRCh38 HG002 FCGR1A GRCh38 148400000 149843518 4 540547 0.374465 chr1:149782671-149792518 0.9747131 9598 FALSE FALSE 148400000 149843518 1 0.265324 0.1389169 0 1 0.0638052 HG002 FLG GRCh38 152282165 152345239 1 63074 1 chr1:152302165-152325239 0.3629626 8375 TRUE TRUE 152282165 152345239 0.4728573 0 0.1659796 0 0.1688969 0.2622634 HG002 LCE3B GRCh38 152593811 152634098 1 18834 0.4674957 chr1:152613811-152614098 0 0 FALSE TRUE 152593811 152634098 0.7691563 0 0 0 0 0.7360191 large del on one haplotype HG002 FLAD1 GRCh38 154962297 155013111 1 50814 1 chr1:154983338-154993111 0.8504042 8311 TRUE TRUE 154962297 155013111 0.3304011 0 0 0 0 0 HG002 MUC1 GRCh38 155165824 155220964 1 55140 1 chr1:155185824-155192916 0.4952059 3512 TRUE TRUE 155165824 155220964 0.4496191 0 0 0 0.1919296 0 HG002 HCN3 GRCh38 155257463 155309848 1 52385 1 chr1:155277463-155289848 0.8885749 11005 TRUE TRUE 155257463 155309848 0.1814451 0 0 0 0 0.0118164 HG002 FCGR3A GRCh38 161509805 161677104 1 167299 1 chr1:161541759-161550737 0.9717086 8724 TRUE FALSE 161509805 161677104 1 0.0717279 0 0 1 0.0021339 HG002 FCGR2B GRCh38 161509805 161698654 1 188849 1 chr1:161663147-161678654 0.1645063 2551 TRUE TRUE 161509805 161698654 0.9006243 0.0635428 0 0 0.8858877 0.0018904 HG002 CD247 GRCh38 167410640 167538610 1 127970 1 chr1:167430640-167518610 0.806434 70942 TRUE TRUE 167410640 167538610 0.2054857 0 0 0 0 0.1200281 HG002 PADI4 GRCh38 17288195 17384004 2 95767 0.9995616 chr1:17308195-17364004 0.8974717 50087 FALSE TRUE 17288195 17384004 0.2159818 0 0 0 0 0.0876953 >90% included by the dip.bed but had multiple contigs or a break in the assembly-assembly alignment HG002 PRG4 GRCh38 186276279 186334567 1 58288 1 chr1:186296279-186314567 0.8993329 16447 TRUE TRUE 186276279 186334567 0.1877573 0 0 0 0 0.0201071 HG002 CFHR3 GRCh38 196742574 196855915 2 57310 0.5056423 chr1:196774813-196795407 0.88283 18181 FALSE TRUE 196742574 196855915 0.9662787 0 0 0 0.8610653 0.0034057 large del on one haplotype HG002 CFHR1 GRCh38 196786971 196855915 1 28726 0.416657 chr1:196819757-196832189 0.8686454 10799 FALSE TRUE 196786971 196855915 1 0 0 0 1 0.0055987 large del on one haplotype HG002 PTPRC GRCh38 198618457 198777476 1 159019 1 chr1:198638457-198757476 0.8593838 102283 TRUE TRUE 198618457 198777476 0.2466372 0.113194 0 0 0 0 HG002 KISS1 GRCh38 204170341 204216491 1 46150 1 chr1:204190341-204196491 0.7731707 4755 TRUE TRUE 204170341 204216491 0.1265222 0 0 0 0 0.0251138 HG002 SLC26A9 GRCh38 205893048 205963460 1 70412 1 chr1:205913048-205943460 0.996646 30310 FALSE FALSE 205893048 205963460 0.1056922 0 0 0 0 0.0141879 HG002 SRGAP2 GRCh38 206151619 206484443 1 332824 1 chr1:206203345-206464443 0.9356219 244289 FALSE FALSE 206151619 206484443 0.7937468 0.0240367 0 0 0.7762601 0.0017727 HG002 CD55 GRCh38 207301532 207406804 2 101743 0.9664773 chr1:207321532-207386804 0.8401152 54836 FALSE TRUE 207301532 207406804 0.2467798 0.0614408 0 0 0 0.0551714 Evidence for duplication in HG002 vs GRCh38 HG002 CR1 GRCh38 207476147 207661765 2 166637 0.8977416 chr1:207496147-207641765 0.7843879 114221 FALSE TRUE 207476147 207661765 0.6515747 0 0 0 0.4094431 0.0086576 break in alignment at large repeat contraction HG002 LBR GRCh38 225381502 225448925 1 67423 1 chr1:225401502-225428925 0.9270685 25423 TRUE FALSE 225381502 225448925 0.1589369 0.0296635 0 0 0 0 HG002 HMGCL GRCh38 23781885 23858620 1 76735 1 chr1:23801885-23838620 0.6880087 25274 TRUE TRUE 23781885 23858620 0.3129602 0 0.1346191 0 0 0.0252818 HG002 CNR2 GRCh38 23850515 23933362 1 82847 1 chr1:23870515-23913362 0.9070647 38865 TRUE FALSE 23850515 23933362 0.201504 0 0 0 0 0.0108634 HG002 RHCE GRCh38 25342249 25450192 1 107943 1 chr1:25362249-25430192 0.7370884 50080 TRUE TRUE 25342249 25450192 0.8069444 0 0 0 0.5827705 0.3286549 HG002 PIGV GRCh38 26767054 26820659 1 53605 1 chr1:26787054-26800659 0.9029033 12284 TRUE FALSE 26767054 26820659 0.2003731 0 0 0 0 0.0484097 HG002 RPL22 GRCh38 6165020 6229389 1 64369 1 chr1:6185020-6209389 0.8855513 21580 TRUE TRUE 6165020 6229389 0.2886172 0 0 0 0 0 HG002 ESPN GRCh38 6404776 6481367 1 76591 1 chr1:6424776-6461367 0.4274822 15642 TRUE TRUE 6404776 6481367 0.6177619 0 0 0 0.4146309 0.2583985 HG002 OR4F5 GRCh38 10000 207666 0 0 0 chr1:65419-71585 0 0 FALSE TRUE 10000 207666 1 0.1973025 0.1184119 0.1517712 1 0.0293525 Gap in GRCh38 HG002 AGL GRCh38 99830361 99944023 1 113662 1 chr1:99850361-99924023 0.7652113 56367 TRUE TRUE 99830361 99944023 0.2896394 0.1319702 0 0 0 0.0104344 HG002 BTRC GRCh38 101334033 101577321 1 243288 1 chr10:101354033-101557321 0.896108 182168 TRUE TRUE 101334033 101577321 0.1913617 0 0 0 0 0.0640887 HG002 ECHS1 GRCh38 133342485 133393354 1 50869 1 chr10:133362485-133373354 0.8562886 9307 TRUE TRUE 133342485 133393354 0.3534962 0 0 0 0 0.0249857 HG002 SPRN GRCh38 133400666 133444572 1 43906 1 chr10:133420666-133424572 0.9295955 3631 TRUE FALSE 133400666 133444572 0.542591 0 0 0 0.3139206 0.0913998 HG002 DCLRE1C GRCh38 14877359 14977024 1 99665 1 chr10:14897359-14954432 0.2456153 14018 TRUE TRUE 14877359 14977024 0.7163297 0 0 0 0.1176341 0.65969 HG002 MRC1 GRCh38 17789348 17931164 1 141816 1 chr10:17809348-17911164 0.9645439 98206 TRUE FALSE 17789348 17931164 0.1162563 0 0 0 0 0.0022847 HG002 PDSS1 GRCh38 26676196 26766798 1 90602 1 chr10:26697701-26746798 0.8718863 42807 TRUE TRUE 26676196 26766798 0.3794729 0 0 0 0.1470939 0.0675371 HG002 DIP2C GRCh38 254190 709668 2 454738 0.9983754 chr10:274190-689668 0.8757455 363853 FALSE TRUE 254190 709668 0.2634836 0 0 0 0 0.0927487 >90% included by the dip.bed but had multiple contigs or a break in the assembly-assembly alignment HG002 NUTM2B GRCh38 79630803 79908397 2 139470 0.5024244 chr10:79703227-79714681 0.2282172 2614 FALSE TRUE 79630803 79908397 1 0.3458288 0.5368776 0 1 0.1837828 Evidence for duplication in HG002 vs GRCh38 HG002 NUTM2D GRCh38 87110815 87500606 1 389791 1 chr10:87357668-87370695 0 0 FALSE TRUE 87110815 87500606 1 0.0615715 0 0 1 0.5095525 Evidence for duplication in HG002 vs GRCh38 HG002 PAPSS2 GRCh38 87639613 87767705 1 128092 1 chr10:87659613-87747705 0.5195591 45769 TRUE TRUE 87639613 87767705 0.402937 0.3278893 0 0 0 0.0023421 HG002 PTEN GRCh38 87843625 87991930 1 148305 1 chr10:87863625-87971930 0.8965791 97104 TRUE TRUE 87843625 87991930 0.2302485 0.0674286 0 0 0 0 HG002 LIPN GRCh38 88741406 88798242 1 56836 1 chr10:88761406-88778242 0.4301497 7242 TRUE TRUE 88741406 88798242 0.3139559 0.2287283 0 0 0 0.0065803 HG002 MUC5B GRCh38 1203066 1282172 1 79106 1 chr11:1223066-1262172 0.7824119 30597 TRUE TRUE 1203066 1282172 0.5984375 0 0 0 0 0.0149546 HG002 TNNT3 GRCh38 1899703 1958706 1 18836 0.319238 chr11:1919703-1938706 0.8750724 16629 FALSE TRUE 1899703 1958706 0.8486518 0 0 0 0 0.4222667 GRCh38 error HG002 H19 GRCh38 1975176 2021470 1 46294 1 chr11:1995176-2001470 0.6102638 3841 TRUE TRUE 1975176 2021470 0.9988551 0 0 0 0 0 HG002 SIRT3 GRCh38 60000 256931 1 196931 1 chr11:215030-236931 0.8482718 18578 FALSE TRUE 60000 256931 0.7546552 0.0152338 0.1948855 0.0761688 0.6947814 0.3611011 Gap in GRCh38 HG002 IFITM3 GRCh38 299676 347537 1 47861 1 chr11:319676-327537 0 0 TRUE TRUE 299676 347537 0.6003426 0 0 0 0 0.4718456 HG002 MDK GRCh38 46360756 46403837 1 43081 1 chr11:46380756-46383837 0.8455047 2605 TRUE TRUE 46360756 46403837 0.3989462 0 0 0 0 0 HG002 SPI1 GRCh38 47334860 47398547 1 63687 1 chr11:47354860-47378547 0.8842403 20945 TRUE TRUE 47334860 47398547 0.3117905 0 0 0 0 0.0498218 HG002 OR51A2 GRCh38 4934772 4975713 2 37150 0.9074033 chr11:4954772-4955713 0 0 FALSE TRUE 4934772 4975713 0.5418529 0 0 0 0 0.4364818 >90% included by the dip.bed but had multiple contigs or a break in the assembly-assembly alignment HG002 HBG1 GRCh38 5228269 5269857 1 41588 1 chr11:5248269-5249857 0.8620907 1369 TRUE TRUE 5228269 5269857 0.2792873 0 0 0 0 0 HG002 B3GAT3 GRCh38 62595296 62642154 1 46858 1 chr11:62615296-62622154 0.8692039 5961 TRUE TRUE 62595296 62642154 0.2785864 0 0 0 0 0.0085791 HG002 DRD4 GRCh38 617269 660706 1 43437 1 chr11:637269-640706 0.7727669 2656 TRUE TRUE 617269 660706 0.4902042 0 0 0 0 0.0542395 HG002 ESRRA GRCh38 64285497 64336743 1 51246 1 chr11:64305497-64316743 0.7805442 8778 TRUE TRUE 64285497 64336743 0.4659681 0 0 0 0.2130508 0 HG002 DEAF1 GRCh38 624233 726715 1 102482 1 chr11:644233-706715 0.500096 31247 TRUE TRUE 624233 726715 0.629008 0 0 0 0 0.3083273 HG002 SLC22A12 GRCh38 64570641 64622353 1 51712 1 chr11:64590641-64602353 0.715847 8384 TRUE TRUE 64570641 64622353 0.2603458 0 0 0 0 0.0800588 HG002 TPCN2 GRCh38 69028932 69156316 1 127384 1 chr11:69048932-69136316 0.8979332 78465 TRUE TRUE 69028932 69156316 0.277578 0 0 0 0 0.0667509 HG002 FGF3 GRCh38 69789968 69839416 1 49448 1 chr11:69809968-69819416 0.8153048 7703 TRUE TRUE 69789968 69839416 0.2421129 0 0 0 0 0.0231152 HG002 SHANK2 GRCh38 70447856 71272577 2 724720 0.8787457 chr11:70467856-71252577 0.7902401 620118 FALSE TRUE 70447856 71272577 0.2185333 0 0.0123436 0.0363759 0.0594456 0.0071952 Gap in GRCh38 HG002 TAS2R46 GRCh38 11041365 11082294 1 40929 1 chr12:11061365-11062294 0 0 FALSE TRUE 11041365 11082294 0.9240881 0.0643798 0 0 0.3147157 0.8216423 Evidence for duplication in HG002 vs GRCh38 HG002 TAS2R45 GRCh38 11068544 11112313 2 40329 0.9214056 chr12:11091287-11092313 0 0 FALSE TRUE 11068544 11112313 0.915808 0 0 0 0.5767552 0.9052754 >90% included by the dip.bed but had multiple contigs or a break in the assembly-assembly alignment HG002 HNF1A GRCh38 120958543 121022512 1 63969 1 chr12:120978543-121002512 0.9288247 22263 TRUE FALSE 120958543 121022512 0.2206381 0 0 0 0 0.0340321 HG002 KDM2B GRCh38 121409096 121601023 1 191927 1 chr12:121429096-121581023 0.9472312 143910 TRUE FALSE 121409096 121601023 0.1628015 0 0 0 0 0.011619 HG002 HPD GRCh38 121819527 121883596 1 64069 1 chr12:121839527-121863596 0.8871577 21353 TRUE TRUE 121819527 121883596 0.2093992 0 0 0 0 0.0184489 HG002 GALNT9 GRCh38 132176372 132349589 2 172655 0.9967555 chr12:132196372-132329589 0.6286435 83746 FALSE TRUE 132176372 132349589 0.5836783 0 0 0.1822223 0 0.0622398 Gap in GRCh38 HG002 P2RX2 GRCh38 132598776 132642388 1 43612 1 chr12:132618776-132622388 0.8576966 3098 TRUE TRUE 132598776 132642388 0.271462 0 0 0 0 0.01949 HG002 PGAM5 GRCh38 132690819 132742734 1 51915 1 chr12:132710819-132722734 0.8533781 10168 TRUE TRUE 132690819 132742734 0.3993644 0 0 0 0 0.2311278 HG002 GOLGA3 GRCh38 132748914 132849078 1 100164 1 chr12:132768914-132829078 0.7719733 46445 TRUE TRUE 132748914 132849078 0.4171359 0 0 0 0 0.2618306 HG002 COX14 GRCh38 50092082 50140457 1 48375 1 chr12:50112082-50120457 0.8635224 7232 TRUE TRUE 50092082 50140457 0.102615 0 0 0 0 0 HG002 NACA GRCh38 56692427 56751628 1 59201 1 chr12:56712427-56731628 0.8681319 16669 TRUE TRUE 56692427 56751628 0.1965169 0 0 0 0 0.0369082 HG002 DPY19L2 GRCh38 63529638 63752467 1 222829 1 chr12:63558913-63668939 0 0 TRUE TRUE 63529638 63752467 1 0.0044877 0 0 1 1 HG002 CD4 GRCh38 6766858 6840799 1 73941 1 chr12:6786858-6820799 0.1255414 4261 TRUE TRUE 6766858 6840799 0.537983 0 0 0.4089341 0 0 HG002 C1R GRCh38 7060214 7112540 1 52326 1 chr12:7080214-7092540 0 0 FALSE TRUE 7060214 7112540 0.6174178 0 0 0.5733287 0 0.0122119 Gap in GRCh38 HG002 PEX5 GRCh38 7168685 7238574 1 69889 1 chr12:7188685-7218574 0.8801231 26306 TRUE TRUE 7168685 7238574 0.2422127 0 0 0 0 0.018558 HG002 APOBEC1 GRCh38 7629400 7685908 1 56508 1 chr12:7649400-7665908 0.9062273 14960 TRUE FALSE 7629400 7685908 0.2290472 0 0 0 0 0.0744673 HG002 GDF3 GRCh38 7669784 7715775 1 45991 1 chr12:7689784-7695775 0 0 TRUE TRUE 7669784 7715775 0.5459764 0 0 0 0 0.4054489 HG002 PTPRQ GRCh38 80382178 80700273 1 318095 1 chr12:80402178-80680273 0.9448929 262770 FALSE FALSE 80382178 80700273 0.2616954 0 0 0 0 0.0284821 HG002 F7 GRCh38 113085788 113140685 1 54897 1 chr13:113105788-113120685 0.5707189 8502 TRUE TRUE 113085788 113140685 0.374137 0 0 0 0 0.1236862 HG002 PROZ GRCh38 113138648 113192386 1 53738 1 chr13:113158648-113172386 0.8114718 11148 TRUE TRUE 113138648 113192386 0.2390859 0 0 0 0 0.0668242 HG002 GRK1 GRCh38 113647219 113757736 2 60054 0.5433915 chr13:113667219-113737736 0 0 FALSE TRUE 113647219 113757736 0.3820589 0 0 0.2714514 0 0.0584164 Gap in GRCh38 HG002 JAG2 GRCh38 105120982 105188824 1 67842 1 chr14:105140982-105168824 0.8480713 23612 TRUE TRUE 105120982 105188824 0.5844757 0 0 0 0 0.0643112 HG002 IGHG2 GRCh38 105606409 105670138 2 24449 0.3836401 chr14:105639559-105644790 0 0 FALSE TRUE 105606409 105670138 1 0.2667545 0.3724835 0 1 0.1079728 Evidence for duplication in HG002 vs GRCh38 HG002 IGHA1 GRCh38 105671018 105778039 3 60391 0.5642911 chr14:105703995-105708665 0 0 FALSE TRUE 105671018 105778039 1 0 0.2010353 0 0.9334243 0.5758029 Evidence for duplication in HG002 vs GRCh38 HG002 IGHG1 GRCh38 105700906 105778039 3 30503 0.3954598 chr14:105736343-105743071 0 0 FALSE TRUE 105700906 105778039 1 0 0.2789338 0 1 0.6008323 Evidence for duplication in HG002 vs GRCh38 HG002 IGHM GRCh38 105831705 105876218 1 32927 0.7397165 chr14:105851705-105856218 0 0 FALSE TRUE 105831705 105876218 1 0 0 0 0 0.4931593 Immunoglobulin locus HG002 IGHV3-21 GRCh38 106211092 106255594 1 44502 1 chr14:106235064-106235594 0 0 TRUE TRUE 106211092 106255594 1 0 0 0 0.3012674 0 HG002 NDUFB1 GRCh38 92096122 92141917 1 45795 1 chr14:92116122-92121917 0.8750647 5071 TRUE TRUE 92096122 92141917 0.1982094 0 0 0 0 0.0153947 HG002 NBEAP1 GRCh38 19987818 20708408 2 6892 0.0095644 chr15:20657638-20688408 0 0 FALSE TRUE 19987818 20708408 0.9734884 0.2497953 0.1358456 0.0208163 0.9661735 0.0440001 Gap in GRCh38 HG002 SNORD64 GRCh38 24965100 25005166 1 40066 1 chr15:24985100-24985166 1 66 FALSE FALSE 24965100 25005166 0.1188289 0 0 0 0 0 HG002 NDUFAF1 GRCh38 41367353 41422519 1 55166 1 chr15:41387353-41402519 0.8991165 13636 TRUE TRUE 41367353 41422519 0.2264257 0 0 0 0 0 HG002 PPIP5K1 GRCh38 43513462 43658153 1 144691 1 chr15:43533462-43590253 0.6902326 39199 TRUE TRUE 43513462 43658153 0.7330173 0.0552902 0 0 0.6857095 0 HG002 USP8 GRCh38 50404380 50534421 1 130041 1 chr15:50424380-50514421 0.7567219 68136 TRUE TRUE 50404380 50534421 0.2714452 0 0 0 0 0.1295361 HG002 RPS17 GRCh38 82304055 82560459 2 186615 0.7278163 chr15:82536750-82540459 0.9773524 3625 FALSE FALSE 82304055 82560459 0.9052433 0.2145052 0.3599437 0 0.8973495 0.0210566 HG002 HOMER2 GRCh38 82809649 83006153 2 190465 0.9692678 chr15:82836946-82986153 0.8959566 133683 FALSE TRUE 82809649 83006153 0.3260646 0 0 0 0.0925884 0.1661137 >90% included by the dip.bed but had multiple contigs or a break in the assembly-assembly alignment HG002 SSTR5 GRCh38 1058781 1100142 1 41361 1 chr16:1078781-1080142 1 1361 TRUE FALSE 1058781 1100142 0.7163028 0 0 0 0 0.0758202 HG002 GNPTG GRCh38 1331931 1384113 1 52182 1 chr16:1351931-1364113 0.2210639 2693 TRUE TRUE 1331931 1384113 0.7468092 0 0 0 0 0.3638228 HG002 UNKL GRCh38 1343205 1434751 1 91546 1 chr16:1363205-1414751 0.7472355 38517 TRUE TRUE 1343205 1434751 0.5701724 0 0 0 0 0.2202281 HG002 CLCN7 GRCh38 1424934 1495084 1 70150 1 chr16:1444934-1475084 0.8340299 25146 TRUE TRUE 1424934 1495084 0.5403706 0 0 0 0 0.0620955 HG002 PLA2G10 GRCh38 14652548 14954790 2 157772 0.5220056 chr16:14672548-14694308 0.8381434 18238 FALSE TRUE 14652548 14954790 0.8996533 0.1481925 0.2222127 0 0.8855255 0.0090093 Evidence for duplication in HG002 vs GRCh38 HG002 HBM GRCh38 133892 186764 1 52872 1 chr16:153892-166764 0 0 TRUE TRUE 133892 186764 0.6385989 0 0 0 0 0.3777992 HG002 SMG1 GRCh38 18784860 18946408 1 161548 1 chr16:18804860-18926408 0.8509396 103430 TRUE TRUE 18784860 18946408 0.5968257 0 0 0 0.4625498 0.0583727 HG002 PKD1 GRCh38 2068708 2155898 1 87190 1 chr16:2088708-2135898 0.7983471 37674 TRUE TRUE 2068708 2155898 0.7517949 0 0 0 0.4570249 0.0050923 HG002 SLC5A11 GRCh38 24825841 24931628 2 105766 0.9998015 chr16:24845841-24911628 0.7401918 48695 FALSE TRUE 24825841 24931628 0.2494446 0 0 0 0 0.1381077 >90% included by the dip.bed but had multiple contigs or a break in the assembly-assembly alignment HG002 PDPK1 GRCh38 2517979 2677513 1 159534 1 chr16:2537979-2603188 0.7134905 46526 TRUE TRUE 2517979 2677513 0.8752993 0 0 0 0.807132 0.0040242 HG002 SULT1A1 GRCh38 28585196 28811313 2 202473 0.8954347 chr16:28605196-28623625 0.3913397 7212 FALSE TRUE 28585196 28811313 0.9762468 0.0619149 0.1456724 0 0.9467577 0.0784373 Evidence for duplication in HG002 vs GRCh38 HG002 AXIN1 GRCh38 267440 372723 1 105283 1 chr16:287440-352723 0.7280149 47527 TRUE TRUE 267440 372723 0.546432 0 0 0 0 0.1631413 HG002 SH2B1 GRCh38 28826600 28894212 1 67612 1 chr16:28846600-28874212 0.8395625 23182 TRUE TRUE 28826600 28894212 0.2571437 0 0 0 0 0.0275543 HG002 PHKG2 GRCh38 30728293 30781176 1 52883 1 chr16:30748293-30761176 0.8818598 11361 TRUE TRUE 30728293 30781176 0.1610158 0 0 0 0 0.019458 HG002 VKORC1 GRCh38 31070842 31115980 1 45138 1 chr16:31090842-31095980 0.8390424 4311 TRUE TRUE 31070842 31115980 0.3061943 0 0 0 0 0.0527937 HG002 ORC6 GRCh38 46669643 46718394 1 48751 1 chr16:46689643-46698394 0.8899555 7788 TRUE TRUE 46669643 46718394 0.3784128 0 0 0 0.2920145 0.0071793 HG002 HSD11B2 GRCh38 67410652 67457553 1 46901 1 chr16:67430652-67437553 0.8823359 6089 TRUE TRUE 67410652 67457553 0.1295921 0 0 0 0 0 HG002 HYDIN GRCh38 70782084 71250722 1 468638 1 chr16:70802084-71230722 0.7839646 336037 TRUE TRUE 70782084 71250722 0.7853695 0 0.1563317 0 0.7623944 0.0042869 HG002 MPG GRCh38 57007 105851 1 48844 1 chr16:77007-85851 0.8366124 7399 TRUE TRUE 57007 105851 0.3110925 0 0 0 0 0.0270658 HG002 GCSH GRCh38 81061945 81116395 1 54450 1 chr16:81081945-81096395 0.8657439 12510 TRUE TRUE 81061945 81116395 0.1918641 0 0 0 0 0.021157 HG002 LMF1 GRCh38 833634 1001318 1 167684 1 chr16:853634-981318 0.7220482 92194 TRUE TRUE 833634 1001318 0.5803237 0 0 0 0 0.2432432 HG002 TMEM114 GRCh38 8517605 8610193 1 92588 1 chr16:8537605-8590193 0.8584278 45143 FALSE TRUE 8517605 8610193 0.1767508 0.0324016 0 0 0 0.0629455 Evidence for duplication in HG002 vs GRCh38 HG002 ZNF469 GRCh38 88362959 88460757 1 97798 1 chr16:88382959-88440757 0.8818298 50968 TRUE TRUE 88362959 88460757 0.6589194 0 0 0.1929078 0 0.0601955 HG002 CDH15 GRCh38 89151748 89215492 1 63744 1 chr16:89171748-89195492 0.7211085 17122 TRUE TRUE 89151748 89215492 0.6326713 0 0 0 0 0.158007 HG002 ANKRD11 GRCh38 89247630 89510561 1 262931 1 chr16:89267630-89490561 0.8882838 198026 TRUE TRUE 89247630 89510561 0.2539297 0 0 0 0 0.060263 HG002 CHMP1A GRCh38 89624435 89677721 2 43443 0.8152798 chr16:89644435-89657721 0.7768328 10321 FALSE TRUE 89624435 89677721 0.3858424 0 0 0 0 0.0595091 break in assembly near gene HG002 MC1R GRCh38 89892119 89940977 1 48858 1 chr16:89912119-89920977 0.7133664 6319 TRUE TRUE 89892119 89940977 0.468255 0 0 0 0 0.0895247 HG002 ABR GRCh38 983518 1249738 1 266220 1 chr17:1003518-1229738 0.7216294 163247 TRUE TRUE 983518 1249738 0.4830742 0.0112689 0 0 0 0.304008 HG002 SERPINF2 GRCh38 1722836 1775268 1 52432 1 chr17:1742836-1755268 0.829955 10318 TRUE TRUE 1722836 1775268 0.3855088 0 0 0 0 0.131332 HG002 ATPAF2 GRCh38 17957409 18059209 1 101800 1 chr17:17977409-18039209 0.721521 44590 TRUE TRUE 17957409 18059209 0.2433694 0 0 0 0 0.1465422 HG002 MAP2K3 GRCh38 21264672 21351656 2 68069 0.7825462 chr17:21284672-21315232 0.3577225 10932 FALSE TRUE 21264672 21351656 0.7551619 0.2299273 0 0 0.5424791 0.0106686 Evidence for duplication in HG002 vs GRCh38 HG002 KCNJ18 GRCh38 21546843 21795643 2 81520 0.3276527 chr17:21692523-21704612 0 0 FALSE TRUE 21546843 21795643 1 0.5024116 0.0777773 0.0594574 0.9695378 0.0413344 Gap in GRCh38 HG002 SRR GRCh38 2283383 2345260 1 61877 1 chr17:2303383-2325260 0.8389633 18354 TRUE TRUE 2283383 2345260 0.4596862 0 0 0 0 0.3165473 HG002 FOXN1 GRCh38 28486243 28558896 1 72653 1 chr17:28506243-28538896 0.8509785 27787 TRUE TRUE 28486243 28558896 0.1962617 0 0 0 0 0.0653517 HG002 SUZ12 GRCh38 31917007 32104799 1 187792 1 chr17:31937007-32001038 0.854711 54728 TRUE TRUE 31917007 32104799 0.8484281 0 0 0 0.7799693 0.0033921 HG002 CCL3L1 GRCh38 36150102 36217319 1 31422 0.467471 chr17:36194869-36196758 0 0 FALSE TRUE 36150102 36217319 1 0 0 0 1 0.3039856 large del on one haplotype HG002 P2RX5 GRCh38 3652199 3716240 1 64041 1 chr17:3672199-3696240 0.7563745 18184 TRUE TRUE 3652199 3716240 0.320451 0 0 0 0 0.0791836 HG002 KRTAP1-1 GRCh38 41020541 41061450 1 40909 1 chr17:41040541-41041450 0.4048405 368 TRUE TRUE 41020541 41061450 0.2018138 0 0 0 0 0.0314601 HG002 G6PC3 GRCh38 44050735 44096344 1 45609 1 chr17:44070735-44076344 0.88358 4956 TRUE TRUE 44050735 44096344 0.2126335 0 0 0 0 0 HG002 KANSL1 GRCh38 46009916 46252364 2 125487 0.5175831 chr17:46029916-46225389 0.4946105 96683 FALSE TRUE 46009916 46252364 0.629104 0.3712136 0.4165801 0 0.2227241 0.0569277 Evidence for duplication in HG002 vs GRCh38 HG002 HOXB8 GRCh38 48591377 48635292 1 43915 1 chr17:48611377-48615292 0.8699872 3406 TRUE TRUE 48591377 48635292 0.2345212 0 0 0 0 0 HG002 GIP GRCh38 48938554 48988596 1 50042 1 chr17:48958554-48968596 0.7075284 7105 TRUE TRUE 48938554 48988596 0.216638 0 0 0 0 0.029775 HG002 GP1BA GRCh38 4912277 4955023 1 42746 1 chr17:4932277-4935023 0.7767662 2133 TRUE TRUE 4912277 4955023 0.1758059 0 0 0 0 0.0143405 HG002 ENO3 GRCh38 4928092 4977131 1 49039 1 chr17:4948092-4957131 0.8921341 8064 TRUE TRUE 4928092 4977131 0.1908481 0 0 0 0 0.0125003 HG002 VPS53 GRCh38 488668 741717 1 252716 0.998684 chr17:508668-721717 0.827082 176209 FALSE TRUE 488668 741717 0.3560733 0 0 0.0648412 0 0.0935313 Gap in GRCh38 HG002 POLG2 GRCh38 64457785 64517054 1 59269 1 chr17:64477785-64497054 0.9760237 18807 FALSE FALSE 64457785 64517054 0.1356527 0 0 0 0 0 HG002 TMC6 GRCh38 78090458 78152407 1 61949 1 chr17:78110458-78132407 0.8981275 19713 TRUE TRUE 78090458 78152407 0.3281893 0 0 0 0 0.0209204 HG002 CANT1 GRCh38 78971716 79029867 1 58151 1 chr17:78991716-79009867 0.8678861 15753 TRUE TRUE 78971716 79029867 0.2184485 0 0 0 0 0.0406012 HG002 RNF213 GRCh38 80240866 80418786 1 177920 1 chr17:80260866-80398786 0.8158715 112525 TRUE TRUE 80240866 80418786 0.2613366 0.011241 0 0 0 0.1304631 HG002 ALOXE3 GRCh38 8075900 8139047 1 63147 1 chr17:8095900-8119047 0 0 TRUE TRUE 8075900 8139047 0.5738832 0 0 0 0 0.4583116 HG002 HES7 GRCh38 8100592 8144106 1 43514 1 chr17:8120592-8124106 0.5674445 1994 TRUE TRUE 8100592 8144106 0.6221216 0 0 0 0 0.4934734 HG002 FSCN2 GRCh38 81508396 81557130 1 48734 1 chr17:81528396-81537130 0.6030456 5267 TRUE TRUE 81508396 81557130 0.5693766 0.0410391 0 0 0 0.0272294 HG002 GCGR GRCh38 81784132 81834008 1 41466 0.8313818 chr17:81804132-81814008 0 0 FALSE TRUE 81784132 81834008 0.5824244 0.0200497 0 0.395561 0 0 Gap in GRCh38 HG002 KATNAL2 GRCh38 46897492 47122243 2 159236 0.7084996 chr18:46917492-47102243 0.5527115 102114 FALSE TRUE 46897492 47122243 0.2161014 0.0622912 0 0.1334811 0.0521199 0.0023804 Gap in GRCh38 HG002 TYMS GRCh38 637653 693578 1 55925 1 chr18:657653-673578 0.8776766 13977 TRUE TRUE 637653 693578 0.2086366 0 0 0 0 0.025266 HG002 ZNF407 GRCh38 74577870 75085671 1 507801 1 chr18:74597870-75065671 0.9787281 457850 FALSE FALSE 74577870 75085671 0.1498008 0.00196929999999999 0 0 0 0.0046455 HG002 GALR1 GRCh38 77229848 77297900 1 68052 1 chr18:77249848-77277900 0.8778697 24626 TRUE TRUE 77229848 77297900 0.1809499 0.0293893 0 0 0 0.0471404 HG002 CTDP1 GRCh38 79659803 79774510 1 114707 1 chr18:79679803-79754510 0.6819709 50948 TRUE TRUE 79659803 79774510 0.4104545 0 0 0 0 0.220562 HG002 TYK2 GRCh38 10330529 10400572 1 70043 1 chr19:10350529-10380572 0.457877 13756 TRUE TRUE 10330529 10400572 0.40922 0 0 0 0 0.2346273 HG002 STK11 GRCh38 1157558 1248431 1 90873 1 chr19:1177558-1228431 0.7819865 39782 TRUE TRUE 1157558 1248431 0.6368118 0 0 0 0 0.1254608 HG002 TRMT1 GRCh38 13084902 13137567 1 52665 1 chr19:13104902-13117567 0.8831425 11185 TRUE TRUE 13084902 13137567 0.3000475 0 0 0 0 0 HG002 CYP4F3 GRCh38 15620897 15682825 1 61928 1 chr19:15640897-15662825 0.86027 18864 TRUE TRUE 15620897 15682825 0.3126373 0 0 0 0 0.1545666 HG002 CYP4F12 GRCh38 15653018 15717174 1 64156 1 chr19:15673018-15697174 0.7362974 17786 TRUE TRUE 15653018 15717174 0.3083266 0 0 0 0 0.1025313 HG002 TCF3 GRCh38 1589290 1672615 1 83325 1 chr19:1609290-1652615 0.9020889 39083 TRUE FALSE 1589290 1672615 0.4249865 0 0 0 0 0.0427843 HG002 CALR3 GRCh38 16459061 16516167 1 57106 1 chr19:16479061-16496167 0.8993336 15384 TRUE TRUE 16459061 16516167 0.1902077 0 0 0 0 0 HG002 MYO9B GRCh38 17055781 17234537 1 178756 1 chr19:17075781-17214537 0.7433408 103143 TRUE TRUE 17055781 17234537 0.3129797 0 0 0 0 0.1764976 HG002 INSL3 GRCh38 17796512 17841574 1 45062 1 chr19:17816512-17821574 0.8676413 4392 TRUE TRUE 17796512 17841574 0.1968621 0 0 0 0 0 HG002 FKBP8 GRCh38 18511751 18564077 1 52326 1 chr19:18531751-18544077 0.8779004 10821 TRUE TRUE 18511751 18564077 0.2772427 0 0 0 0 0.0573329 HG002 LMNB2 GRCh38 2407638 2476959 1 69321 1 chr19:2427638-2456959 0.8893967 26078 TRUE TRUE 2407638 2476959 0.4620534 0 0 0 0 0.1797002 HG002 GPI GRCh38 34339480 34422413 1 82933 1 chr19:34359480-34402413 0.8775068 37674 TRUE TRUE 34339480 34422413 0.1943858 0.0361738 0 0 0 0.0468933 HG002 COX6B1 GRCh38 35628323 35678782 1 50459 1 chr19:35648323-35658782 0.8790515 9194 TRUE TRUE 35628323 35678782 0.2113003 0 0 0 0 0 HG002 GIPC3 GRCh38 3565478 3613541 1 48063 1 chr19:3585478-3593541 0.7936252 6399 TRUE TRUE 3565478 3613541 0.4804319 0 0 0 0 0.0532426 HG002 TBXA2R GRCh38 3574507 3626875 1 52368 1 chr19:3594507-3606875 0.8689359 10747 TRUE TRUE 3574507 3626875 0.5246333 0 0 0 0 0.0488657 HG002 IFNL3 GRCh38 39223553 39273022 1 49469 1 chr19:39243553-39245129 1 1576 TRUE FALSE 39223553 39273022 0.416948 0 0 0 0 0.0136449 HG002 CYP2G1P GRCh38 40861515 40954133 1 92618 1 chr19:40890826-40912357 0.9130092 19658 TRUE FALSE 40861515 40954133 0.8676283 0 0 0 0.8278196 0.029735 HG002 CREB3L3 GRCh38 4133631 4193054 1 59423 1 chr19:4153631-4173054 0.8004428 15547 TRUE TRUE 4133631 4193054 0.2758528 0 0 0 0 0 HG002 ETHE1 GRCh38 43486719 43547230 1 60511 1 chr19:43506719-43527230 0.881332 18077 TRUE TRUE 43486719 43547230 0.1857513 0 0 0 0 0.0106096 HG002 APOC1 GRCh38 44894247 44939349 1 45102 1 chr19:44914247-44919349 0.881223 4496 TRUE TRUE 44894247 44939349 0.260055 0 0 0 0 0 HG002 APOC4 GRCh38 44922237 44965496 1 43259 1 chr19:44942237-44945496 0.8511813 2774 TRUE TRUE 44922237 44965496 0.2594604 0 0 0 0 0.015765500000000002 HG002 APOC2 GRCh38 44926035 44969565 1 43530 1 chr19:44946035-44949565 0.8974504 3168 TRUE TRUE 44926035 44969565 0.2707098 0 0 0 0 0.0242362 HG002 BLOC1S3 GRCh38 45158784 45236933 1 78149 1 chr19:45178784-45216933 0.8128129 31008 TRUE TRUE 45158784 45236933 0.3159989 0 0 0 0 0.0727201 HG002 DMPK GRCh38 45749709 45802552 1 52843 1 chr19:45769709-45782552 0.7140855 9171 TRUE TRUE 45749709 45802552 0.3624321 0 0 0 0 0.0520599 HG002 FUT1 GRCh38 48728011 48775390 1 47379 1 chr19:48748011-48755390 0.8509283 6279 TRUE TRUE 48728011 48775390 0.2794276 0 0 0 0 0.0324405 HG002 BAX GRCh38 48934815 48981798 1 46983 1 chr19:48954815-48961798 0.8860089 6187 TRUE TRUE 48934815 48981798 0.2158227 0 0 0 0 0 HG002 TRPM4 GRCh38 49137741 49231836 1 94095 1 chr19:49157741-49211836 0.6728718 36399 TRUE TRUE 49137741 49231836 0.387587 0 0 0 0 0.2118178 HG002 PNKP GRCh38 49839882 49898351 1 58469 1 chr19:49859882-49878351 0.1718014 3173 TRUE TRUE 49839882 49898351 0.6382527 0 0 0 0 0.4549419 HG002 SIGLEC16 GRCh38 49949673 49995814 1 46141 1 chr19:49969673-49975814 0.8930142 5484 TRUE TRUE 49949673 49995814 0.2474155 0 0 0 0 0 HG002 KLK4 GRCh38 50886352 50930738 1 44386 1 chr19:50906352-50910738 0.8162335 3580 TRUE TRUE 50886352 50930738 0.2790069 0 0 0 0 0.1478394 HG002 ETFB GRCh38 51325169 51386388 1 61219 1 chr19:51345169-51366388 0.6745841 14314 TRUE TRUE 51325169 51386388 0.4682696 0 0 0 0 0.2979467 HG002 NLRP12 GRCh38 53773741 53844394 1 70653 1 chr19:53793741-53824394 0.874792 26815 TRUE TRUE 53773741 53844394 0.2533084 0 0 0 0 0.038682 HG002 PRKCG GRCh38 53859190 53927652 1 68462 1 chr19:53879190-53907652 0.8599887 24477 TRUE TRUE 53859190 53927652 0.3517134 0 0 0 0 0.0457188 HG002 TFPT GRCh38 54087013 54135675 2 47303 0.9720727 chr19:54107013-54115675 0.2918495 2528 FALSE TRUE 54087013 54135675 0.5365994 0 0 0 0 0.3476429 >90% included by the dip.bed but had multiple contigs or a break in the assembly-assembly alignment HG002 MBOAT7 GRCh38 54153412 54209882 1 56470 1 chr19:54173412-54189882 0.896357 14763 TRUE TRUE 54153412 54209882 0.3041261 0 0 0 0 0.0369046 HG002 KIR2DL3 GRCh38 54718513 54790329 1 46502 0.6475159 chr19:54738513-54753052 0 0 FALSE TRUE 54718513 54790329 0.9191963 0.4083909 0.3385736 0 0.9009134 0 Evidence for duplication in HG002 vs GRCh38 HG002 KIR2DL1 GRCh38 54725629 54804322 1 39386 0.5005019 chr19:54769793-54784322 0 0 FALSE TRUE 54725629 54804322 1 0.5505191 0.4868031 0 0.8221824 0.0057693 Evidence for duplication in HG002 vs GRCh38 HG002 KIR3DL1 GRCh38 54796468 54868186 1 5433 0.075755 chr19:54816468-54830778 0 0 FALSE TRUE 54796468 54868186 1 0.45361 0.6664854 0 0.8523941 0.0106528 Evidence for duplication in HG002 vs GRCh38 HG002 NLRP7 GRCh38 54903509 54986312 1 82803 1 chr19:54923509-54966312 0.8215545 35165 TRUE TRUE 54903509 54986312 0.3781868 0 0 0 0 0.2125285 HG002 NLRP2 GRCh38 54933130 55021142 1 88012 1 chr19:54953130-55001142 0.3204615 15386 TRUE TRUE 54933130 55021142 0.4965687 0 0 0 0 0.370529 HG002 GP6 GRCh38 54993705 55058264 1 64559 1 chr19:55013705-55038264 0.8494645 20862 TRUE TRUE 54993705 55058264 0.3385585 0 0 0 0 0.1305473 HG002 TNNT1 GRCh38 55112698 55169206 1 56508 1 chr19:55132698-55149206 0.1094621 1807 TRUE TRUE 55112698 55169206 0.5248283 0 0 0 0 0.2958696 HG002 TNNI3 GRCh38 55131767 55177773 1 46006 1 chr19:55151767-55157773 0.7394273 4441 TRUE TRUE 55131767 55177773 0.578968 0 0 0 0 0.3634091 HG002 SBK3 GRCh38 55520656 55565543 1 44887 1 chr19:55540656-55545543 0.7317373 3576 TRUE TRUE 55520656 55565543 0.3828726 0 0 0 0 0.0907167 HG002 BSG GRCh38 551277 603493 1 52216 1 chr19:571277-583493 0.3962017 4840 TRUE TRUE 551277 603493 0.8009997 0 0 0 0 0.4830703 HG002 ZNF419 GRCh38 57467711 57516097 1 48386 1 chr19:57487711-57496097 0.5220606 4378 TRUE TRUE 57467711 57516097 0.6168727 0 0 0 0.5115116 0.4361385 HG002 FUT3 GRCh38 5822888 5871474 2 46400 0.9550076 chr19:5842888-5851474 0.7143024 6133 FALSE TRUE 5822888 5871474 0.3851521 0 0 0 0 0.0905405 >90% included by the dip.bed but had multiple contigs or a break in the assembly-assembly alignment HG002 SLC27A5 GRCh38 58459512 58532413 1 72901 1 chr19:58479512-58512413 0.8624054 28374 TRUE TRUE 58459512 58532413 0.2568552 0 0 0 0 0.039876 HG002 HCN2 GRCh38 569881 637159 1 67278 1 chr19:589881-617159 0.4483466 12230 TRUE TRUE 569881 637159 0.7635334 0 0 0 0 0.3547371 HG002 RFX2 GRCh38 5973164 6219572 1 246408 1 chr19:5993164-6199572 0.8766714 180952 TRUE TRUE 5973164 6219572 0.2358893 0 0 0 0 0.0779398 HG002 C3 GRCh38 6657704 6750562 1 92858 1 chr19:6677704-6730562 0.8743993 46219 TRUE TRUE 6657704 6750562 0.2683237 0 0 0 0 0.0257167 HG002 INSR GRCh38 7092255 7314414 1 222159 1 chr19:7112255-7294414 0.849 154653 FALSE TRUE 7092255 7314414 0.2291422 0 0 0 0 0.0804244 resolved on GRCh38 but not GRCh37 HG002 STXBP2 GRCh38 7616881 7667873 1 50992 1 chr19:7636881-7647873 0.8302402 9126 TRUE TRUE 7616881 7667873 0.2906142 0 0 0 0 0.0295733 HG002 CD320 GRCh38 8271973 8328358 2 56385 1 chr19:8302127-8308358 0 0 FALSE TRUE 8271973 8328358 0.6940676 0 0 0 0.5268422 0.6612042 >90% included by the dip.bed but had multiple contigs or a break in the assembly-assembly alignment HG002 ELANE GRCh38 831014 876247 2 43807 0.9684743 chr19:851014-856247 0.8262947 4324 FALSE TRUE 831014 876247 0.6126279 0 0 0 0 0.1530299 >90% included by the dip.bed but had multiple contigs or a break in the assembly-assembly alignment HG002 ADAMTS10 GRCh38 8560240 8630735 1 70495 1 chr19:8580240-8610735 0.9677652 29512 FALSE FALSE 8560240 8630735 0.2415916 0 0 0 0 0.0081708 HG002 CFD GRCh38 839664 883641 2 42551 0.9675739 chr19:859664-863641 0.7827508 3113 FALSE TRUE 839664 883641 0.6181186 0.0454783 0 0 0 0.093367 Evidence for duplication in HG002 vs GRCh38 HG002 MUC16 GRCh38 8828844 9001342 2 144276 0.8363923 chr19:8848844-8981342 0.8570243 113554 FALSE TRUE 8828844 9001342 0.280067 0.0811604 0 0 0 0.007716 Evidence for duplication in HG002 vs GRCh38 HG002 KISS1R GRCh38 897287 941005 1 43718 1 chr19:917287-921005 0.873319 3247 TRUE TRUE 897287 941005 0.5082574 0 0 0 0 0 HG002 KLF11 GRCh38 10022849 10074836 1 51987 1 chr2:10042849-10054836 0.8787019 10533 TRUE TRUE 10022849 10074836 0.1954719 0 0 0 0 0 HG002 RGPD3 GRCh38 106367374 106515037 1 147663 1 chr2:106391290-106468413 0.8794004 67822 TRUE TRUE 106367374 106515037 1 0 0 0 1 0.0204113 HG002 CFC1B GRCh38 130401225 130719935 2 266351 0.8357158 chr2:130521197-130528604 0 0 FALSE TRUE 130401225 130719935 1 0.0878542 0.0674594 0 1 0.0312133 Evidence for duplication in HG002 vs GRCh38 HG002 CFC1 GRCh38 130401225 130719935 2 266351 0.8357158 chr2:130592165-130599575 0.0102564 76 FALSE TRUE 130401225 130719935 1 0.0878542 0.0674594 0 1 0.0312133 Evidence for duplication in HG002 vs GRCh38 HG002 TPO GRCh38 1354066 1563711 1 209645 1 chr2:1374066-1543711 0.7634708 129519 TRUE TRUE 1354066 1563711 0.4075747 0 0 0 0 0.2406783 HG002 PXDN GRCh38 1611887 1764852 1 152965 1 chr2:1631887-1744852 0.8637454 97573 TRUE TRUE 1611887 1764852 0.2911581 0 0 0 0 0.0770503 HG002 CASP10 GRCh38 201162898 201249406 1 86508 1 chr2:201182898-201229406 0.8580029 39904 TRUE TRUE 201162898 201249406 0.2022241 0.0693577 0 0 0 0 HG002 INPP5D GRCh38 233039967 233227903 1 187936 1 chr2:233059967-233207903 0.7404215 109535 FALSE TRUE 233039967 233227903 0.2912694 0 0 0.1708933 0 0.0155159 Gap in GRCh38 HG002 MLPH GRCh38 237465428 237575322 1 109894 1 chr2:237485428-237555322 0.8627207 60299 TRUE TRUE 237465428 237575322 0.2193204 0 0 0 0 0.064362 HG002 TWIST2 GRCh38 238828032 238930534 2 102160 0.9966635 chr2:238848032-238910534 0.6036767 37731 FALSE TRUE 238828032 238930534 0.428899 0.0161851 0 0.2926772 0 0.0364481 Gap in GRCh38 HG002 ANO7 GRCh38 241168509 241245377 1 76868 1 chr2:241188509-241225377 0.8790821 32410 TRUE TRUE 241168509 241245377 0.2808971 0 0 0 0 0.0520242 HG002 D2HGDH GRCh38 241714602 241788816 1 74214 1 chr2:241734602-241768816 0.8362367 28611 TRUE TRUE 241714602 241788816 0.3790929 0 0 0 0 0.0596249 HG002 ABCG8 GRCh38 43811942 43902988 1 91046 1 chr2:43831942-43882988 0.7431728 37936 TRUE TRUE 43811942 43902988 0.2578257 0 0 0 0 0.003987 HG002 PCBP1 GRCh38 70067477 70109203 1 41726 1 chr2:70087477-70089203 0.8574739 1480 TRUE TRUE 70067477 70109203 0.1963284 0 0 0 0 0 HG002 MOGS GRCh38 74441057 74485410 1 44353 1 chr2:74461057-74465410 0.8509074 3704 TRUE TRUE 74441057 74485410 0.2245395 0 0 0 0 0 HG002 RPIA GRCh38 88671673 88788066 1 116393 1 chr2:88691673-88750929 0.6143681 36405 TRUE TRUE 88671673 88788066 0.5549217 0 0 0 0.2029933 0.5118435 HG002 IGKC GRCh38 88837161 88877683 0 0 0 chr2:88857161-88857683 0 0 FALSE TRUE 88837161 88877683 1 0 0 0 0 1 Immunoglobulin locus HG002 IGKV1-5 GRCh38 88927301 89330679 0 0 0 chr2:88947301-88947957 0 0 FALSE TRUE 88927301 89330679 1 0 0 0.037186 0.9793791 1 Gap in GRCh38 HG002 SNTG2 GRCh38 930849 1387613 1 456764 1 chr2:950849-1367613 0.8259423 344223 TRUE TRUE 930849 1387613 0.3034762 0.0043786 0 0 0 0.1477459 HG002 ASIP GRCh38 34174569 34289344 2 111488 0.9713613 chr20:34194569-34269344 0.8494551 63518 FALSE TRUE 34174569 34289344 0.2697103 0 0 0 0 0.0568765 >90% included by the dip.bed but had multiple contigs or a break in the assembly-assembly alignment HG002 SEMG1 GRCh38 45187033 45229768 1 42735 1 chr20:45207033-45209768 0.6855576 1875 TRUE TRUE 45187033 45229768 0.1472798 0 0 0 0 0.0197964 HG002 PLTP GRCh38 45878621 45932155 1 53534 1 chr20:45898621-45912155 0.8905719 12053 TRUE TRUE 45878621 45932155 0.1567415 0 0 0 0 0.0251616 HG002 CHRNA4 GRCh38 63323223 63398401 1 75178 1 chr20:63343223-63378401 0.8450452 29727 TRUE TRUE 63323223 63398401 0.5300088 0 0 0 0 0.0919285 HG002 EEF1A2 GRCh38 63468014 63519185 1 51171 1 chr20:63488014-63499185 0.7796974 8710 TRUE TRUE 63468014 63519185 0.5245159 0 0 0 0 0.0654863 HG002 PTK6 GRCh38 63508001 63557376 1 49375 1 chr20:63528001-63537376 0.8471467 7942 TRUE TRUE 63508001 63557376 0.5365874 0 0 0 0 0.0285975 HG002 OPRL1 GRCh38 64060082 64120643 1 60561 1 chr20:64080082-64100643 0.7546325 15516 TRUE TRUE 64060082 64120643 0.5018081 0 0 0 0 0.1657833 HG002 MYT1 GRCh38 64082394 64262253 1 179859 1 chr20:64102394-64242253 0.7612739 106471 TRUE TRUE 64082394 64262253 0.3483562 0 0 0 0 0.1751205 HG002 KCNE1 GRCh38 34374239 34532210 1 157971 1 chr21:34446688-34512210 0.8547053 56002 TRUE TRUE 34374239 34532210 0.7837325 0 0 0 0.7692551 0.0033234 HG002 CBR3 GRCh38 36115079 36166562 1 51483 1 chr21:36135079-36146562 0.8292258 9522 TRUE TRUE 36115079 36166562 0.2070004 0 0 0 0 0.0216965 HG002 NDUFV3 GRCh38 42859644 42933304 1 73660 1 chr21:42879644-42913304 0.8529115 28709 TRUE TRUE 42859644 42933304 0.2319712 0 0 0 0 0.0449226 HG002 CBS GRCh38 43033191 43187643 1 154452 1 chr21:43053191-43076943 0.4067447 9661 TRUE TRUE 43033191 43187643 0.9853806 0 0 0 0.9840792 0.0051667 HG002 U2AF1 GRCh38 43035650 43187643 1 151993 1 chr21:43092956-43107587 0.8358964 12230 TRUE TRUE 43035650 43187643 1 0 0 0 1 0.0052502 HG002 CRYAA GRCh38 43035650 43192805 1 157155 1 chr21:43169008-43172805 0 0 TRUE TRUE 43035650 43192805 0.9755337 0 0 0 0.9671534 0.0050778 HG002 TRAPPC10 GRCh38 43992309 44253496 1 261187 1 chr21:44012309-44106552 0.961716 90635 TRUE FALSE 43992309 44253496 0.6520194 0 0 0 0.6037475 0.0415373 HG002 DNMT3L GRCh38 44095805 44282216 1 186411 1 chr21:44246339-44262216 0.8615608 13679 TRUE TRUE 44095805 44282216 0.8916749 0 0 0 0.8459318 0.0581994 HG002 COL18A1 GRCh38 45385165 45533720 1 148555 1 chr21:45405165-45513720 0.7102851 77105 TRUE TRUE 45385165 45533720 0.5724546 0 0 0 0 0.2066642 HG002 COL6A1 GRCh38 45961769 46025050 1 63281 1 chr21:45981769-46005050 0.4392852 10227 TRUE TRUE 45961769 46025050 0.6924827 0 0 0 0 0.4936237 HG002 COL6A2 GRCh38 46078112 46152848 1 73817 0.9877034 chr21:46098112-46132848 0.8912368 30958 FALSE TRUE 46078112 46152848 0.5144508 0 0 0 0 0.1436791 >90% included by the dip.bed but had multiple contigs or a break in the assembly-assembly alignment HG002 FTCD GRCh38 46116262 46175579 2 51762 0.8726335 chr21:46136262-46155579 0.7675105 14826 FALSE TRUE 46116262 46175579 0.582548 0 0 0 0 0.1691421 break in assembly in gene HG002 DGCR6 GRCh38 18709564 18934238 2 61507 0.2737611 chr22:18906028-18914238 0.5590743 4590 FALSE TRUE 18709564 18934238 1 0.2848572 0.0642976 0.0667634 0.9576231 0.0759856 Gap in GRCh38 HG002 PRODH GRCh38 18709564 18976730 2 103999 0.3892674 chr22:18912777-18936553 0.700959 16666 FALSE TRUE 18709564 18976730 0.9934273 0.2582664 0.0540713 0.0561449 0.9044676 0.0650532 Gap in GRCh38 HG002 CABIN1 GRCh38 23971773 24198628 1 192760 0.8497058 chr22:24011192-24178628 0.8961096 150041 FALSE TRUE 23971773 24198628 0.3586035 0.044081 0.0495118 0 0.1305636 0.2417756 Evidence for duplication in HG002 vs GRCh38 HG002 APOBEC3H GRCh38 39069234 39124067 1 54833 1 chr22:39097224-39104067 0.896975 6138 TRUE TRUE 39069234 39124067 0.3553882 0 0 0 0.2135028 0.0312585 HG002 NDUFA6 GRCh38 42065526 42110884 1 45358 1 chr22:42085526-42090884 0.7653975 4101 TRUE TRUE 42065526 42110884 0.2003836 0 0 0 0 0 HG002 CYB5R3 GRCh38 42597840 42669392 1 71552 1 chr22:42617840-42649392 0.8819093 27826 TRUE TRUE 42597840 42669392 0.2436689 0 0 0 0 0.0258693 HG002 A4GALT GRCh38 42672121 42741298 1 69177 1 chr22:42692121-42721298 0.8710285 25414 TRUE TRUE 42672121 42741298 0.191263 0 0 0 0 0.0271767 HG002 TTLL1 GRCh38 43019516 43109419 1 89903 1 chr22:43039516-43089419 0.8656393 43198 TRUE TRUE 43019516 43109419 0.2602916 0 0 0 0 0.013281 HG002 MLC1 GRCh38 50039391 50105426 1 66035 1 chr22:50059391-50085426 0.8927597 23243 TRUE TRUE 50039391 50105426 0.3384569 0 0 0 0 0.0265162 HG002 TUBGCP6 GRCh38 50197689 50265023 1 67334 1 chr22:50217689-50245023 0.8714421 23820 TRUE TRUE 50197689 50265023 0.4930941 0 0 0 0 0.0525589 HG002 SHANK3 GRCh38 50654415 50808468 2 147885 0.9599618 chr22:50674415-50733298 0.8364723 49254 FALSE TRUE 50654415 50808468 0.6301922 0 0 0.0973691 0.4411014 0.0773046 Gap in GRCh38 HG002 RPN1 GRCh38 128599969 128701075 1 101106 1 chr3:128619969-128681075 0.69459630000000006 42444 TRUE TRUE 128599969 128701075 0.3385556 0 0 0 0 0.1600202 HG002 BFSP2 GRCh38 133380056 133495222 1 115166 1 chr3:133400056-133475222 0.8765266 65885 TRUE TRUE 133380056 133495222 0.1961603 0 0 0 0 0.0651147 HG002 PCCB GRCh38 136230340 136357896 1 127556 1 chr3:136250340-136337896 0.8343689 73054 TRUE TRUE 136230340 136357896 0.1792232 0 0 0 0 0.0775738 HG002 DAZL GRCh38 16538524 16690306 1 151782 1 chr3:16586792-16670306 0.811349 67759 TRUE TRUE 16538524 16690306 0.5695339 0 0 0 0.4514699 0.3432159 HG002 EIF2B5 GRCh38 184115038 184166127 1 51089 1 chr3:184135038-184146127 0.8852016 9816 TRUE TRUE 184115038 184166127 0.1361937 0 0 0 0 0 HG002 KNG1 GRCh38 186697348 186764410 1 67062 1 chr3:186717348-186744410 0.6975094 18876 TRUE TRUE 186697348 186764410 0.3803197 0.0298231 0 0 0 0.2295488 HG002 MUC4 GRCh38 195720484 195831973 1 81052 0.7269955 chr3:195746765-195811973 0.4981751 32485 FALSE TRUE 195720484 195831973 0.6361345 0.2647436 0.2656047 0 0 0.2564199 Evidence for duplication in HG002 vs GRCh38 HG002 TM4SF19 GRCh38 196299342 196358503 1 59161 1 chr3:196319342-196338503 0.8995877 17237 TRUE TRUE 196299342 196358503 0.1881138 0 0 0 0 0.0233769 HG002 CHL1 GRCh38 176763 429417 1 252654 1 chr3:196763-409417 0.8785115 186819 TRUE TRUE 176763 429417 0.2035828 0.0870756 0 0 0 0.0052127 HG002 LZTFL1 GRCh38 45803316 45936042 1 132726 1 chr3:45823316-45916042 0.831881 77137 TRUE TRUE 45803316 45936042 0.1854648 0 0 0 0 0.1132408 HG002 RHOA GRCh38 49339145 49432998 1 93853 1 chr3:49359145-49412998 0.8710192 46907 TRUE TRUE 49339145 49432998 0.1984167 0 0 0 0 0.0031965 HG002 MST1R GRCh38 49867002 49923873 1 56871 1 chr3:49887002-49903873 0.8506905 14352 TRUE TRUE 49867002 49923873 0.1528723 0 0 0 0 0.0120272 HG002 HYAL1 GRCh38 50279890 50332381 1 52491 1 chr3:50299890-50312381 0.7645504 9550 TRUE TRUE 50279890 50332381 0.3015374 0 0 0 0 0 HG002 FGFRL1 GRCh38 989936 1046898 1 56962 1 chr4:1009936-1026898 0.8267303 14023 TRUE TRUE 989936 1046898 0.7928795 0 0 0 0 0.0879358 HG002 RNF212 GRCh38 1036250 1133564 1 97314 1 chr4:1056250-1113564 0.8923823 51146 TRUE TRUE 1036250 1133564 0.2789732 0 0 0 0 0.0695378 HG002 UVSSA GRCh38 1327208 1415989 1 88781 1 chr4:1347208-1395989 0.8802198 42938 TRUE TRUE 1327208 1415989 0.5424584 0 0 0.018371 0 0.0894223 HG002 GYPE GRCh38 143823928 144099864 2 86309 0.3127863 chr4:143870864-143905563 0 0 FALSE TRUE 143823928 144099864 1 0.0072481 0 0 1 1 Evidence for duplication in HG002 vs GRCh38 HG002 GYPB GRCh38 143823928 144099864 2 86309 0.3127863 chr4:143996104-144019380 0 0 FALSE TRUE 143823928 144099864 1 0.0072481 0 0 1 1 Evidence for duplication in HG002 vs GRCh38 HG002 GYPA GRCh38 143823928 144160751 2 147196 0.4370129 chr4:144109303-144140751 0 0 FALSE TRUE 143823928 144160751 1 0.0059378 0 0 0.9183577 1 Evidence for duplication in HG002 vs GRCh38 HG002 PDLIM3 GRCh38 185480660 185555507 1 74847 1 chr4:185500660-185535507 0.8755704 30511 TRUE TRUE 185480660 185555507 0.1791121 0 0 0 0 0.0528679 HG002 FAT1 GRCh38 186567794 186746722 1 178928 1 chr4:186587794-186726722 0.8908139 123759 TRUE TRUE 186567794 186746722 0.1827104 0 0.0562181 0 0 0.0151066 HG002 DUX4L1 GRCh38 190004058 190122738 1 61170 0.5154196 chr4:190084412-190085686 0 0 FALSE TRUE 190004058 190122738 1 0.5308392 0.4106926 0.1231631 1 0.0195231 Gap in GRCh38 HG002 DUX4 GRCh38 190153774 190205942 0 0 0 chr4:190173774-190185942 0 0 FALSE TRUE 190153774 190205942 0.6025533 0.1341819 0 0.5750652 0.6025533 0.0124214 Gap in GRCh38 HG002 ZNF141 GRCh38 317814 404868 1 87054 1 chr4:337814-384868 0.9275088 43643 TRUE FALSE 317814 404868 0.4491925 0 0 0 0.2023342 0.0034806 HG002 DOK7 GRCh38 3443306 3521473 1 78167 1 chr4:3463306-3501473 0.8799487 33585 TRUE TRUE 3443306 3521473 0.5783515 0 0 0 0 0.079279 HG002 LRPAP1 GRCh38 3483612 3564395 1 80783 1 chr4:3503612-3532446 0.8714365 25127 FALSE TRUE 3483612 3564395 0.7190498 0 0 0 0.3703254 0.1383583 resolved on GRCh38 but not GRCh37 HG002 PDE6B GRCh38 605584 690782 1 85198 1 chr4:625584-670782 0.87349 39480 TRUE TRUE 605584 690782 0.4422404 0 0 0 0 0.0497664 HG002 UGT2B17 GRCh38 68504930 68588527 1 4864 0.0581839 chr4:68537184-68568527 0.8726351 27351 FALSE TRUE 68504930 68588527 0.8221467 0 0 0 0.7792504 0 large del on one haplotype HG002 UGT2B28 GRCh38 69160322 69318840 1 60208 0.3798181 chr4:69280475-69295050 0.6573585 9581 FALSE TRUE 69160322 69318840 1 0 0 0 1 0.0093743 large del on one haplotype HG002 UGT2A1 GRCh38 69568417 69673249 1 104832 1 chr4:69588417-69653249 0.8492874 55061 TRUE TRUE 69568417 69673249 0.3408787 0 0 0 0 0.0821886 HG002 UGT2A2 GRCh38 69569309 69659642 1 90333 1 chr4:69589309-69639642 0.8079193 40665 TRUE TRUE 69569309 69659642 0.3319606 0 0 0 0 0.0953804 HG002 AFP GRCh38 73411138 73476174 1 65036 1 chr4:73431138-73456174 0.8514539 21317 TRUE TRUE 73411138 73476174 0.216434 0.0922566 0 0 0 0.0077803 HG002 GAK GRCh38 829276 952373 1 123097 1 chr4:849276-932373 0.8542306 70984 TRUE TRUE 829276 952373 0.4198071 0 0 0 0 0.0691893 HG002 DSPP GRCh38 87588529 87636873 1 48344 1 chr4:87608529-87616873 0.617929 5156 TRUE TRUE 87588529 87636873 0.1624814 0 0 0 0 0.0698949 HG002 HMX1 GRCh38 8826076 8891839 1 65763 1 chr4:8846076-8871839 0 0 TRUE TRUE 8826076 8891839 1 0 0 0.0821282 0 0 HG002 EIF4E GRCh38 98851684 98950637 2 95640 0.9665195 chr4:98871684-98930637 0.8803114 51897 FALSE TRUE 98851684 98950637 0.1887361 0.0303174 0 0 0 0.0532374 Evidence for duplication in HG002 vs GRCh38 HG002 SLC6A18 GRCh38 1205381 1266189 1 60808 1 chr5:1225381-1246189 0.8338139 17350 TRUE TRUE 1205381 1266189 0.4564695 0 0 0 0 0.0809433 HG002 TERT GRCh38 1233147 1315068 1 81921 1 chr5:1253147-1295068 0.6961427 29183 TRUE TRUE 1233147 1315068 0.4492377 0 0 0 0 0.1788308 HG002 SAR1B GRCh38 134581149 134669271 1 88122 1 chr5:134601149-134649271 0.8968663 43159 TRUE TRUE 134581149 134669271 0.1924491 0 0 0 0 0.0138558 HG002 MYOT GRCh38 137847858 137907851 1 59993 1 chr5:137867858-137887851 0.8770069 17534 TRUE TRUE 137847858 137907851 0.1829047 0.0333372 0 0 0 0 HG002 SLC6A3 GRCh38 1372794 1465440 1 92646 1 chr5:1392794-1445440 0.8939521 47063 TRUE TRUE 1372794 1465440 0.3140017 0 0 0 0 0.065583 HG002 PCDHA10 GRCh38 140834461 141032347 1 197886 1 chr5:140855883-141012347 0.8453446 132266 TRUE TRUE 140834461 141032347 0.332166 0 0 0 0 0.2220976 HG002 NPM1 GRCh38 171367116 171431137 1 64021 1 chr5:171387116-171411137 0.8336039 20024 TRUE TRUE 171367116 171431137 0.2143203 0 0 0 0 0.0322863 HG002 FLT4 GRCh38 180581506 180669624 1 88118 1 chr5:180601506-180649624 0.7754478 37313 TRUE TRUE 180581506 180669624 0.3992487 0 0 0 0 0.1230623 HG002 SDHA GRCh38 198241 305378 2 103922 0.9699917 chr5:218241-257082 0.8312608 32287 FALSE TRUE 198241 305378 0.9528828 0 0 0 0.8507892 0.3113303 >90% included by the dip.bed but had multiple contigs or a break in the assembly-assembly alignment HG002 MARVELD2 GRCh38 69395065 69464330 1 69265 1 chr5:69415065-69444330 0.8980694 26282 TRUE TRUE 69395065 69464330 0.2060925 0 0 0 0 0.0369451 HG002 OCLN GRCh38 69472292 71009585 6 709223 0.4613454 chr5:69492292-69558104 0.8930438 58773 FALSE TRUE 69472292 71009585 0.9672235 0.217265 0.035342 0 0.9599315 0.0553174 Evidence for duplication in HG002 vs GRCh38 HG002 SMN2 GRCh38 69533889 71009585 6 647626 0.4388614 chr5:70049638-70078522 0.6542723 18898 FALSE TRUE 69533889 71009585 1 0.2263339 0.0368172 0 1 0.0563863 Evidence for duplication in HG002 vs GRCh38 HG002 SMN1 GRCh38 69533889 71009585 6 647626 0.4388614 chr5:70925030-70953942 0.082215 2377 TRUE TRUE 69533889 71009585 1 0.2263339 0.0368172 0 1 0.0563863 HG002 NAIP GRCh38 69533889 71450397 7 1052381 0.5491138 chr5:70968166-71025339 0 0 FALSE TRUE 69533889 71450397 1 0.1977555 0.0371321 0 0.9970577 0.1056025 Evidence for duplication in HG002 vs GRCh38 HG002 TTC37 GRCh38 95441755 95574977 1 133222 1 chr5:95461755-95554977 0.8962155 83547 TRUE TRUE 95441755 95574977 0.1802855 0.0675564 0 0 0 0 HG002 LIX1 GRCh38 97071867 97162753 1 90886 1 chr5:97091867-97142753 0.8759187 44572 TRUE TRUE 97071867 97162753 0.1475695 0.0660168 0 0 0 0 HG002 SEC63 GRCh38 107847756 107978208 1 130452 1 chr6:107867756-107958208 0.658515 59564 TRUE TRUE 107847756 107978208 0.3749962 0 0 0 0 0.2281682 HG002 PCMT1 GRCh38 149729443 149831420 1 101977 1 chr6:149749443-149811420 0.8871033 54980 TRUE TRUE 149729443 149831420 0.1997607 0 0 0 0 0.0227012 HG002 SLC22A1 GRCh38 160101815 160178718 1 76903 1 chr6:160121815-160158718 0.8997101 33202 TRUE TRUE 160101815 160178718 0.1782765 0 0 0 0 0.0595946 HG002 LPA GRCh38 160511482 160684275 2 122734 0.710295 chr6:160531482-160664275 0.6387686 84824 FALSE TRUE 160511482 160684275 0.3928863 0.2430654 0.2262707 0 0.246069 0.2060269 Evidence for duplication in HG002 vs GRCh38 HG002 SMOC2 GRCh38 168421151 168693445 1 272294 1 chr6:168441151-168673445 0.8578913 199283 TRUE TRUE 168421151 168693445 0.2583348 0 0 0 0 0.0997121 HG002 THBS2 GRCh38 169195780 169274044 1 78264 1 chr6:169215780-169254044 0.834492 31931 TRUE TRUE 169195780 169274044 0.2915644 0 0.0325181 0 0 0.1007743 HG002 OR12D2 GRCh38 29375631 29418008 1 42377 1 chr6:29395631-29398008 0.8872529 2109 FALSE TRUE 29375631 29418008 1 0 0 0 0 0.0125304 MHC HG002 HLA-B GRCh38 31249491 31377188 1 127697 1 chr6:31269491-31357188 0.8272233 72545 FALSE TRUE 31249491 31377188 1 0 0 0 0 0.3841045 MHC HG002 NFKBIL1 GRCh38 31526870 31578829 1 51959 1 chr6:31546870-31558829 0.8984029 10744 FALSE TRUE 31526870 31578829 1 0 0 0 0 0 MHC HG002 NCR3 GRCh38 31568895 31613006 1 44111 1 chr6:31588895-31593006 0.8392119 3450 FALSE TRUE 31568895 31613006 1 0 0 0 0 0 MHC HG002 HLA-DRB1 GRCh38 32558769 32609848 1 13017 0.2548406 chr6:32578769-32589848 0 0 FALSE TRUE 32558769 32609848 1 0.2153527 0 0 0.5513225 0.9129584 Evidence for duplication in HG002 vs GRCh38 HG002 HLA-DQB1 GRCh38 32639467 32688383 1 48916 1 chr6:32659467-32668383 0.692463 6174 FALSE TRUE 32639467 32688383 1 0 0 0 0 1 MHC HG002 TAPBP GRCh38 33279694 33334387 1 54693 1 chr6:33299694-33314387 0.8285578 12174 FALSE TRUE 33279694 33334387 1 0 0 0 0 0 MHC HG002 DAXX GRCh38 33298558 33343016 1 44458 1 chr6:33318558-33323016 0.9672499 4312 FALSE FALSE 33298558 33343016 1 0 0 0 0 0 HG002 LHFPL5 GRCh38 35777206 35865397 2 75963 0.8613464 chr6:35797206-35845397 0.8958312 43171 FALSE TRUE 35777206 35865397 0.2634282 0.1360683 0.1386536 0 0 0.0220771 Evidence for duplication in HG002 vs GRCh38 HG002 SLC17A5 GRCh38 73573379 73673992 1 100613 1 chr6:73593379-73653992 0.7805256 47310 TRUE TRUE 73573379 73673992 0.3234075 0 0 0 0 0.1925994 HG002 ZAN GRCh38 100713595 100817797 1 104202 1 chr7:100733595-100797797 0.7347279 47171 TRUE TRUE 100713595 100817797 0.3549452 0 0 0 0 0.1999002 HG002 MUC3A GRCh38 100929534 100988347 1 19437 0.3304881 chr7:100949534-100968347 0.0771807 1452 FALSE TRUE 100929534 100988347 0.4032782 0.3060548 0 0 0 0.016799 Evidence for duplication in HG002 vs GRCh38 HG002 LAMB1 GRCh38 107903799 108023187 1 119388 1 chr7:107923799-108003187 0.8978435 71278 TRUE TRUE 107903799 108023187 0.1508359 0.0586324 0 0 0 0 HG002 MEST GRCh38 130466171 130526465 1 60294 1 chr7:130486171-130506465 0.9798955 19886 FALSE FALSE 130466171 130526465 0.168375 0 0 0 0 0.0057054 HG002 KLF14 GRCh38 130711235 130754176 1 42941 1 chr7:130731235-130734176 0.8867732 2608 TRUE TRUE 130711235 130754176 0.1306211 0 0 0 0 0.0106192 HG002 BRAF GRCh38 140699327 140944928 1 245601 1 chr7:140719327-140924928 0.8991931 184875 TRUE TRUE 140699327 140944928 0.2313346 0 0 0 0 0.0703377 HG002 TRBV9 GRCh38 142371891 142412412 1 40521 1 chr7:142391891-142392412 1 521 TRUE FALSE 142371891 142412412 0.0940253 0 0 0 0 0 HG002 PRSS2 GRCh38 142731559 142794564 2 31252 0.4960241 chr7:142760398-142774564 0 0 FALSE TRUE 142731559 142794564 0.7562257 0.3174351 0.1603206 0 0.6148559 0.0095707 Evidence for duplication in HG002 vs GRCh38 HG002 KMT2C GRCh38 152114922 152456005 1 341083 1 chr7:152134922-152436005 0.8468794 254981 TRUE TRUE 152114922 152456005 0.5345561 0.0469094 0 0 0.3886796 0.0626006 HG002 DPP6 GRCh38 153867097 154914285 1 1047188 1 chr7:153887097-154894285 0.9065726 913089 FALSE FALSE 153867097 154914285 0.334322 0.0019099 0 0.031724 0.1999488 0.0309935 HG002 PTPRN2 GRCh38 157519056 158607823 2 1088757 0.9999908 chr7:157539056-158587823 0.7698945 807440 FALSE TRUE 157519056 158607823 0.3871526 0.0027554 0 0 0.0112604 0.1870354 Evidence for duplication in HG002 vs GRCh38 HG002 FAM20C GRCh38 172571 280772 1 108201 1 chr7:192571-260772 0.0357619 2439 FALSE TRUE 172571 280772 0.8816184 0 0 0.2772618 0 0.2334544 Gap in GRCh38 HG002 NOD1 GRCh38 30404527 30498784 1 94257 1 chr7:30424527-30478784 0.8836095 47942 TRUE TRUE 30404527 30498784 0.20982 0.0636557 0 0 0 0.0053683 HG002 PPIA GRCh38 44776680 44844564 1 67884 1 chr7:44796680-44824564 0.8686702 24222 TRUE TRUE 44776680 44844564 0.1899859 0 0 0 0 0 HG002 IKZF1 GRCh38 50284068 50425101 1 141033 1 chr7:50304068-50405101 0.9804717 99060 FALSE FALSE 50284068 50425101 0.0869229 0 0 0 0 0 HG002 SLC29A4 GRCh38 5246144 5329481 1 83337 1 chr7:5274369-5306870 0.876773 28496 TRUE TRUE 5246144 5329481 0.9914924 0 0 0 0.9910364 0 HG002 PSPH GRCh38 55991051 56071604 1 80553 1 chr7:56011051-56051604 0.8773211 35578 TRUE TRUE 55991051 56071604 0.5732375 0 0 0 0.4725584 0 HG002 ZNF479 GRCh38 56724727 57166698 2 441969 0.9999955 chr7:57119614-57139864 0.8891358 18005 FALSE TRUE 56724727 57166698 0.9742653 0 0 0 0.9655905 0.0677759 >90% included by the dip.bed but had multiple contigs or a break in the assembly-assembly alignment HG002 PMS2 GRCh38 5850195 6029106 2 84779 0.4738613 chr7:5970925-6009106 0.8558446 32677 FALSE TRUE 5850195 6029106 0.8605676 0 0 0 0.8324195 0.0157229 not assembled completely HG002 GUSB GRCh38 65940684 66004662 1 63978 1 chr7:65960684-65982215 0.8902048 19167 TRUE TRUE 65940684 66004662 0.3845853 0 0 0 0 0 HG002 CLIP2 GRCh38 74269407 74425935 1 156528 1 chr7:74289407-74405935 0.7835456 91305 TRUE TRUE 74269407 74425935 0.310494 0 0 0 0 0.1365762 HG002 GTF2I GRCh38 74630231 74923628 1 293397 1 chr7:74650231-74760692 0.7857887 86799 TRUE TRUE 74630231 74923628 0.7260538 0 0 0 0.6661793 0.0134357 HG002 NCF1 GRCh38 74728173 74923628 1 195455 1 chr7:74773962-74789376 0.6766576 10430 TRUE TRUE 74728173 74923628 1 0 0 0 1 0.0201683 HG002 GTF2IRD2 GRCh38 74728173 74923628 1 195455 1 chr7:74796144-74851551 0.0743408 4119 TRUE TRUE 74728173 74923628 1 0 0 0 1 0.0201683 HG002 NCF1C GRCh38 75074150 75528717 2 324791 0.7145063 chr7:75156639-75172044 0 0 FALSE TRUE 75074150 75528717 1 0.1231942 0.2275572 0 1 0.034589 Evidence for duplication in HG002 vs GRCh38 HG002 GPIHBP1 GRCh38 143193218 143237170 1 43952 1 chr8:143213218-143217170 0 0 TRUE TRUE 143193218 143237170 0.5129004 0 0 0 0 0.3937477 HG002 MAFA GRCh38 143399182 143450732 1 51550 1 chr8:143419182-143430732 0.8823377 10191 TRUE TRUE 143399182 143450732 0.5906305 0 0 0 0 0.0758681 HG002 NAPRT GRCh38 143554785 143598649 1 43864 1 chr8:143574785-143578649 0.8985507 3472 FALSE TRUE 143554785 143598649 0.522661 0 0 0 0 0.0148413 resolved on GRCh38 but not GRCh37 HG002 ARHGEF10 GRCh38 1803926 1978641 1 174715 1 chr8:1823926-1958641 0.7368147 99260 TRUE TRUE 1803926 1978641 0.4043099 0 0 0 0 0.25086 HG002 IKBKB GRCh38 42251302 42352653 1 101351 1 chr8:42271302-42332653 0.869831 53365 TRUE TRUE 42251302 42352653 0.2462334 0 0 0 0 0.1456325 HG002 DLGAP2 GRCh38 717596 1728474 2 996480 0.9857569 chr8:737596-1708474 0.8126696 789003 FALSE TRUE 717596 1728474 0.3253805 0 0 0 0.0149385 0.1519521 >90% included by the dip.bed but had multiple contigs or a break in the assembly-assembly alignment HG002 IMPA1 GRCh38 81636914 81706331 1 69417 1 chr8:81656914-81686331 0.9015875 26522 TRUE FALSE 81636914 81706331 0.172609 0 0 0 0 0.0370082 HG002 CDH17 GRCh38 94107162 94237303 1 130141 1 chr8:94127162-94217303 0.8991025 81046 TRUE TRUE 94107162 94237303 0.1485312 0.0614718 0 0 0 0.0026433 HG002 MUSK GRCh38 110648779 110826558 1 177779 1 chr9:110668779-110806558 0.8374643 115385 TRUE TRUE 110648779 110826558 0.2655376 0.0899994 0 0 0 0.0290079 HG002 SLC27A4 GRCh38 128320527 128381470 1 60943 1 chr9:128340527-128361470 0.8427637 17650 TRUE TRUE 128320527 128381470 0.1929508 0 0 0 0 0.0327191 HG002 PKN3 GRCh38 128682503 128740916 1 58413 1 chr9:128702503-128720916 0.8358225 15390 TRUE TRUE 128682503 128740916 0.3296869 0 0 0 0 0.0054954 HG002 CEL GRCh38 133041978 133091863 2 26532 0.5318633 chr9:133061978-133071863 0 0 FALSE TRUE 133041978 133091863 0.6118472 0 0.4226722 0 0.2355417 0.0296682 Evidence for duplication in HG002 vs GRCh38 HG002 ABO GRCh38 133224843 133296024 1 71181 1 chr9:133250401-133276024 0.8859228 22700 TRUE TRUE 133224843 133296024 0.382869 0 0 0 0.1812 0.0215788 HG002 ADAMTSL2 GRCh38 133512164 133595519 2 80547 0.9663128 chr9:133532164-133575519 0.155553 6744 FALSE TRUE 133512164 133595519 0.8143003 0 0 0 0 0.6994061 >90% included by the dip.bed but had multiple contigs or a break in the assembly-assembly alignment HG002 SOHLH1 GRCh38 135673407 135724498 1 51091 1 chr9:135693407-135704498 0.9293121 10307 TRUE FALSE 135673407 135724498 0.5004795 0 0 0 0 0.030338 HG002 INPP5E GRCh38 136408619 136459845 1 51226 1 chr9:136428619-136439845 0.8844646 9929 TRUE TRUE 136408619 136459845 0.3197595 0 0 0 0 0.0253192 HG002 MAN1B1 GRCh38 137066985 137129183 1 62198 1 chr9:137086985-137109183 0.8239931 18291 TRUE TRUE 137066985 137129183 0.4414933 0 0 0 0 0.0700826 HG002 GRIN1 GRCh38 137119154 137188756 1 69602 1 chr9:137139154-137168756 0.890852 26371 TRUE TRUE 137119154 137188756 0.5352001 0 0 0 0 0.0254303 HG002 NSMF GRCh38 137427570 137479334 0 0 0 chr9:137447570-137459334 0.8323699 9792 FALSE TRUE 137427570 137479334 0.6075265 0 0 0 0 0.0475234 duplication of allele on other haplotype in hifiasmv0.11 not in v0.14.1 HG002 EHMT1 GRCh38 137598992 137891226 2 290520 0.9941348 chr9:137618992-137870016 0.8890544 223174 FALSE TRUE 137598992 137891226 0.2898328 0 0 0 0 0.0723496 >90% included by the dip.bed but had multiple contigs or a break in the assembly-assembly alignment HG002 KCNV2 GRCh38 2697510 2750037 1 52527 1 chr9:2717510-2730037 0.8876028 11119 TRUE TRUE 2697510 2750037 0.1168161 0 0 0 0 0.0219316 HG002 GALT GRCh38 34618133 34671035 1 52902 1 chr9:34638133-34651035 0.8719578 11250 TRUE TRUE 34618133 34671035 0.1883483 0 0 0 0 0 HG002 FXN GRCh38 69015563 69120178 1 104615 1 chr9:69035563-69100178 0.5009053 32366 TRUE TRUE 69015563 69120178 0.4158199 0 0 0 0 0.298093 HG002 TJP2 GRCh38 69101264 69294615 1 193351 1 chr9:69121264-69274615 0.9096583 139497 TRUE FALSE 69101264 69294615 0.2535441 0 0 0 0 0.1393217 HG002 SPATA31C1 GRCh38 87894493 87943505 2 48276 0.9849833 chr9:87914493-87923505 0.301376 2716 FALSE TRUE 87894493 87943505 0.8039256 0 0 0 0.702583 0.2084592 >90% included by the dip.bed but had multiple contigs or a break in the assembly-assembly alignment