chrom stringclasses 12
values | pos int64 36.1k 249M | ref stringclasses 4
values | alt stringclasses 4
values | label bool 2
classes | subset stringclasses 8
values | match_group int64 0 2.16k | rsid stringlengths 3 15 | pip float64 0 1 | traits stringclasses 279
values | MAF float64 0 0.5 | ld_score float64 1.01 3.79k | consequence stringclasses 13
values | consequence_cre stringclasses 29
values | exon_closest_pc_gene_id stringlengths 15 15 | distance_exon_pc int64 0 1.68M | exon_closest_nc_gene_id stringlengths 15 15 | distance_exon_nc int64 0 507k | distance_exon int64 0 507k | exon_closest_gene_id stringlengths 15 15 | consequence_final stringclasses 28
values | tss_closest_pc_gene_id stringlengths 15 15 | distance_tss_pc int64 0 1.69M | tss_closest_nc_gene_id stringlengths 15 15 | distance_tss_nc int64 0 531k | distance_tss int64 0 531k | tss_closest_gene_id stringlengths 15 15 | consequence_group stringclasses 8
values | distance_tss_pc_bin stringclasses 4
values | distance_exon_pc_bin stringclasses 7
values |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 22,864,990 | A | G | false | missense_variant | 109 | rs56180036 | 0.000157 | 0.001015 | 4.9136 | missense_variant | missense_variant | ENSG00000133216 | 0 | ENSG00000133216 | 0 | 0 | ENSG00000133216 | missense_variant | ENSG00000133216 | 89,811 | ENSG00000133216 | 168 | 168 | ENSG00000133216 | missense_variant | NA | NA | |
1 | 22,865,015 | G | A | false | missense_variant | 109 | rs141626076 | 0.000027 | 0.000113 | 10.198 | missense_variant | missense_variant | ENSG00000133216 | 0 | ENSG00000133216 | 0 | 0 | ENSG00000133216 | missense_variant | ENSG00000133216 | 89,836 | ENSG00000133216 | 143 | 143 | ENSG00000133216 | missense_variant | NA | NA | |
1 | 22,865,020 | G | A | false | missense_variant | 109 | rs200609603 | 0.000143 | 0.000192 | 2.7038 | missense_variant | missense_variant | ENSG00000133216 | 0 | ENSG00000133216 | 0 | 0 | ENSG00000133216 | missense_variant | ENSG00000133216 | 89,841 | ENSG00000133216 | 138 | 138 | ENSG00000133216 | missense_variant | NA | NA | |
1 | 23,015,700 | C | G | false | tss_proximal | 190 | rs10917344 | 0.004507 | 0.49023 | 250.67 | intron_variant | CA | ENSG00000227868 | 71 | ENSG00000004487 | 3,742 | 71 | ENSG00000227868 | tss_proximal | ENSG00000227868 | 151 | ENSG00000004487 | 3,742 | 151 | ENSG00000227868 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
1 | 23,040,645 | A | G | false | distal | 38 | rs1984576 | 0.003078 | 0.48881 | 251.93 | intron_variant | dELS | ENSG00000004487 | 3,781 | ENSG00000263793 | 3,659 | 3,659 | ENSG00000263793 | dELS | ENSG00000004487 | 21,176 | ENSG00000263793 | 3,659 | 3,659 | ENSG00000263793 | distal | NA | NA | |
1 | 23,091,660 | C | T | false | missense_variant | 93 | rs10799790 | 0.003119 | 0.16249 | 239.18 | missense_variant | missense_variant | ENSG00000169641 | 0 | ENSG00000240553 | 3,601 | 0 | ENSG00000169641 | missense_variant | ENSG00000004487 | 12,646 | ENSG00000240553 | 3,601 | 3,601 | ENSG00000240553 | missense_variant | NA | NA | |
1 | 23,368,146 | G | A | false | 5_prime_UTR_variant | 124 | rs683204 | 0.00053 | 0.11236 | 154.24 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000125945 | 0 | ENSG00000249087 | 792 | 0 | ENSG00000125945 | 5_prime_UTR_variant | ENSG00000125945 | 239 | ENSG00000249087 | 792 | 239 | ENSG00000125945 | 5_prime_UTR_variant | NA | NA | |
1 | 23,383,982 | C | T | true | 3_prime_UTR_variant | 131 | rs2298632 | 0.96579 | HDLC | 0.49916 | 132.63 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000204219 | 0 | ENSG00000271420 | 4,952 | 0 | ENSG00000204219 | 3_prime_UTR_variant | ENSG00000125945 | 14,145 | ENSG00000271420 | 4,952 | 4,952 | ENSG00000271420 | 3_prime_UTR_variant | NA | NA |
1 | 23,386,132 | G | A | false | distal | 30 | rs12126283 | 0.002087 | 0.05714 | 94.69 | intron_variant | dELS | ENSG00000204219 | 1,140 | ENSG00000271420 | 7,102 | 1,140 | ENSG00000204219 | dELS | ENSG00000125945 | 16,295 | ENSG00000271420 | 7,102 | 7,102 | ENSG00000271420 | distal | NA | NA | |
1 | 23,485,411 | C | T | false | tss_proximal | 137 | rs12562266 | 0.00036 | 0.024294 | 109.95 | upstream_gene_variant | pELS | ENSG00000088280 | 842 | ENSG00000088280 | 1,218 | 842 | ENSG00000088280 | tss_proximal | ENSG00000088280 | 842 | ENSG00000088280 | 1,218 | 842 | ENSG00000088280 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 23,521,037 | C | T | true | missense_variant | 78 | rs2229297 | 0.93433 | MCH | 0.01122 | 12.737 | missense_variant | missense_variant | ENSG00000007968 | 0 | ENSG00000007968 | 1,640 | 0 | ENSG00000007968 | missense_variant | ENSG00000007968 | 10,195 | ENSG00000007968 | 1,640 | 1,640 | ENSG00000007968 | missense_variant | NA | NA |
1 | 23,521,045 | G | A | false | missense_variant | 78 | rs116694174 | 0.000275 | 0.004852 | 7.1859 | missense_variant | missense_variant | ENSG00000007968 | 0 | ENSG00000007968 | 1,648 | 0 | ENSG00000007968 | missense_variant | ENSG00000007968 | 10,187 | ENSG00000007968 | 1,648 | 1,648 | ENSG00000007968 | missense_variant | NA | NA | |
1 | 23,750,961 | C | T | false | missense_variant | 83 | rs2235541 | 0.001686 | 0.093874 | 38.242 | missense_variant | missense_variant | ENSG00000011007 | 0 | ENSG00000011007 | 0 | 0 | ENSG00000011007 | missense_variant | ENSG00000011007 | 7,489 | ENSG00000011007 | 6,926 | 6,926 | ENSG00000011007 | missense_variant | NA | NA | |
1 | 24,048,374 | C | T | false | distal | 42 | rs11248990 | 0.001301 | 0.19726 | 92.092 | intron_variant | dELS | ENSG00000142661 | 7,660 | ENSG00000225315 | 6,028 | 6,028 | ENSG00000225315 | dELS | ENSG00000142661 | 18,204 | ENSG00000225315 | 7,538 | 7,538 | ENSG00000225315 | distal | NA | NA | |
1 | 24,051,316 | T | A | false | distal | 42 | rs7538264 | 0.001194 | 0.1973 | 92.032 | intron_variant | dELS | ENSG00000142661 | 4,718 | ENSG00000142661 | 4,779 | 4,718 | ENSG00000142661 | dELS | ENSG00000142661 | 15,262 | ENSG00000225315 | 10,480 | 10,480 | ENSG00000225315 | distal | NA | NA | |
1 | 24,051,454 | T | C | false | distal | 42 | rs7540557 | 0.001279 | 0.19731 | 92.073 | intron_variant | dELS | ENSG00000142661 | 4,580 | ENSG00000142661 | 4,641 | 4,580 | ENSG00000142661 | dELS | ENSG00000142661 | 15,124 | ENSG00000225315 | 10,618 | 10,618 | ENSG00000225315 | distal | NA | NA | |
1 | 24,061,332 | T | A | false | splicing | 188 | rs7553075 | 0.001525 | 0.21173 | 92.018 | intron_variant | intron_variant | ENSG00000142661 | 22 | ENSG00000225315 | 2,714 | 22 | ENSG00000142661 | exon_proximal | ENSG00000142661 | 5,246 | ENSG00000230703 | 5,441 | 5,246 | ENSG00000142661 | splicing | NA | splicing:b1 | |
1 | 24,082,701 | C | T | false | missense_variant | 101 | rs4320729 | 0.001042 | 0.43487 | 139.26 | missense_variant | missense_variant | ENSG00000142661 | 0 | ENSG00000142661 | 0 | 0 | ENSG00000142661 | missense_variant | ENSG00000142661 | 16,121 | ENSG00000142661 | 1,430 | 1,430 | ENSG00000142661 | missense_variant | NA | NA | |
1 | 24,430,534 | A | G | false | distal | 130 | rs7541523 | 0.000504 | 0.38864 | 151.25 | intron_variant | CA | ENSG00000001461 | 2,569 | ENSG00000001461 | 8,423 | 2,569 | ENSG00000001461 | CA | ENSG00000001461 | 14,719 | ENSG00000001460 | 13,599 | 13,599 | ENSG00000001460 | distal | NA | NA | |
1 | 24,430,639 | C | T | false | distal | 130 | rs7530010 | 0.001215 | 0.36391 | 134.86 | intron_variant | CA | ENSG00000001461 | 2,464 | ENSG00000001461 | 8,528 | 2,464 | ENSG00000001461 | CA | ENSG00000001461 | 14,824 | ENSG00000001460 | 13,704 | 13,704 | ENSG00000001460 | distal | NA | NA | |
1 | 24,458,903 | C | T | false | missense_variant | 114 | rs2272935 | 0.004092 | 0.25778 | 132.66 | missense_variant | missense_variant | ENSG00000001461 | 0 | ENSG00000288982 | 17,458 | 0 | ENSG00000001461 | missense_variant | ENSG00000001461 | 2,736 | ENSG00000288982 | 17,458 | 2,736 | ENSG00000001461 | missense_variant | NA | NA | |
1 | 24,481,031 | C | A | false | distal | 38 | rs2473456 | 0.002155 | 0.48043 | 147.03 | intergenic_variant | dELS | ENSG00000001461 | 8,054 | ENSG00000288982 | 4,291 | 4,291 | ENSG00000288982 | dELS | ENSG00000117602 | 21,319 | ENSG00000288982 | 4,668 | 4,668 | ENSG00000288982 | distal | NA | NA | |
1 | 24,568,762 | T | C | false | distal | 154 | rs2776734 | 0.000101 | 0.37434 | 67.615 | intron_variant | TF | ENSG00000184454 | 12,592 | ENSG00000227312 | 4,787 | 4,787 | ENSG00000227312 | TF | ENSG00000184454 | 12,674 | ENSG00000227312 | 5,134 | 5,134 | ENSG00000227312 | distal | NA | NA | |
1 | 24,666,610 | A | T | false | non_coding_transcript_exon_variant | 117 | rs111281328 | 0.00069 | 0.04923 | 34.698 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000133226 | 204 | ENSG00000133226 | 0 | 0 | ENSG00000133226 | non_coding_transcript_exon_variant | ENSG00000133226 | 23,050 | ENSG00000133226 | 54 | 54 | ENSG00000133226 | non_coding_transcript_exon_variant | NA | NA | |
1 | 24,914,625 | A | G | true | distal | 38 | rs9438876 | 0.99947 | FEV1FVC | 0.48686 | 31.461 | intron_variant | dELS | ENSG00000020633 | 4,614 | ENSG00000020633 | 4,614 | 4,614 | ENSG00000020633 | dELS | ENSG00000020633 | 15,650 | ENSG00000278034 | 4,790 | 4,790 | ENSG00000278034 | distal | NA | NA |
1 | 24,965,206 | C | T | true | tss_proximal | 136 | rs188468174 | 1 | AG,Alb,Balding_Type4,NAP | 0.014671 | 28.562 | upstream_gene_variant | PLS | ENSG00000020633 | 195 | ENSG00000020633 | 84 | 84 | ENSG00000020633 | tss_proximal | ENSG00000020633 | 195 | ENSG00000020633 | 84 | 84 | ENSG00000020633 | tss_proximal | tss_prox:b1 | tss_prox:b1 |
1 | 25,039,547 | C | A | false | distal | 152 | rs434956 | 0.004014 | 0.13183 | 79.766 | intergenic_variant | pELS | ENSG00000020633 | 74,536 | ENSG00000285823 | 1,588 | 1,588 | ENSG00000285823 | pELS | ENSG00000020633 | 74,536 | ENSG00000285823 | 1,588 | 1,588 | ENSG00000285823 | distal | NA | NA | |
1 | 25,041,096 | T | A | false | tss_proximal | 180 | rs114715932 | 0.000273 | 0.034388 | 28.652 | upstream_gene_variant | pELS_flank | ENSG00000020633 | 76,085 | ENSG00000285823 | 39 | 39 | ENSG00000285823 | tss_proximal | ENSG00000020633 | 76,085 | ENSG00000285823 | 39 | 39 | ENSG00000285823 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 25,173,273 | G | A | false | distal | 157 | rs6686564 | 0.000095 | 0.28728 | 95.163 | intergenic_variant | intergenic_variant | ENSG00000117614 | 49,002 | ENSG00000231953 | 34,865 | 34,865 | ENSG00000231953 | intergenic_variant | ENSG00000117614 | 59,212 | ENSG00000231953 | 34,865 | 34,865 | ENSG00000231953 | distal | NA | NA | |
1 | 25,173,296 | G | C | false | distal | 157 | rs6686568 | 0.000064 | 0.2656 | 99.798 | intergenic_variant | intergenic_variant | ENSG00000117614 | 48,979 | ENSG00000231953 | 34,842 | 34,842 | ENSG00000231953 | intergenic_variant | ENSG00000117614 | 59,189 | ENSG00000231953 | 34,842 | 34,842 | ENSG00000231953 | distal | NA | NA | |
1 | 25,173,317 | A | G | false | distal | 157 | rs11588632 | 0.000061 | 0.26348 | 99.476 | intergenic_variant | intergenic_variant | ENSG00000117614 | 48,958 | ENSG00000231953 | 34,821 | 34,821 | ENSG00000231953 | intergenic_variant | ENSG00000117614 | 59,168 | ENSG00000231953 | 34,821 | 34,821 | ENSG00000231953 | distal | NA | NA | |
1 | 25,274,256 | C | A | true | distal | 145 | rs139898146 | 1 | MCV,Plt | 0.41531 | 136.34 | intron_variant | intron_variant | ENSG00000187010 | 1,560 | ENSG00000187010 | 1,560 | 1,560 | ENSG00000187010 | intron_variant | ENSG00000187010 | 1,707 | ENSG00000187010 | 1,707 | 1,707 | ENSG00000187010 | distal | NA | NA |
1 | 25,351,114 | G | A | true | distal | 6 | rs72660919 | 1 | HbA1c | 0.13313 | 64.255 | intron_variant | dELS_flank | ENSG00000183726 | 511 | ENSG00000183726 | 511 | 511 | ENSG00000183726 | dELS_flank | ENSG00000183726 | 12,779 | ENSG00000183726 | 8,521 | 8,521 | ENSG00000183726 | distal | NA | NA |
1 | 25,551,001 | C | T | true | distal | 39 | rs75446219 | 0.9999 | Plt | 0.035202 | 33.595 | intron_variant | dELS | ENSG00000157978 | 2,920 | ENSG00000157978 | 965 | 965 | ENSG00000157978 | dELS | ENSG00000157978 | 7,394 | ENSG00000157978 | 1,039 | 1,039 | ENSG00000157978 | distal | NA | NA |
1 | 25,746,751 | G | A | false | missense_variant | 84 | rs75075607 | 0.00013 | 0.024656 | 44.524 | missense_variant | missense_variant | ENSG00000117643 | 0 | ENSG00000117643 | 0 | 0 | ENSG00000117643 | missense_variant | ENSG00000117643 | 37,148 | ENSG00000117643 | 25,317 | 25,317 | ENSG00000117643 | missense_variant | NA | NA | |
1 | 25,782,746 | A | G | false | distal | 11 | rs12567324 | 0.000607 | 0.37415 | 76.792 | intron_variant | dELS_flank | ENSG00000117643 | 45 | ENSG00000117643 | 45 | 45 | ENSG00000117643 | dELS_flank | ENSG00000162430 | 17,446 | ENSG00000117643 | 2,031 | 2,031 | ENSG00000117643 | distal | NA | NA | |
1 | 25,782,816 | G | C | false | distal | 11 | rs2072746 | 0.000512 | 0.37539 | 76.295 | intron_variant | dELS_flank | ENSG00000117643 | 115 | ENSG00000117643 | 115 | 115 | ENSG00000117643 | dELS_flank | ENSG00000162430 | 17,376 | ENSG00000117643 | 2,101 | 2,101 | ENSG00000117643 | distal | NA | NA | |
1 | 25,925,309 | C | T | false | distal | 17 | rs541104755 | 0.000146 | 0.011345 | 21.7 | intergenic_variant | dELS_flank | ENSG00000117632 | 18,317 | ENSG00000283938 | 18,854 | 18,317 | ENSG00000117632 | dELS_flank | ENSG00000117632 | 18,317 | ENSG00000283938 | 18,854 | 18,317 | ENSG00000117632 | distal | NA | NA | |
1 | 25,966,014 | A | T | false | distal | 153 | rs4659399 | 0.000109 | 0.36387 | 180.67 | intron_variant | pELS | ENSG00000158006 | 3,930 | ENSG00000207237 | 1,713 | 1,713 | ENSG00000207237 | pELS | ENSG00000158006 | 31,606 | ENSG00000207237 | 1,816 | 1,816 | ENSG00000207237 | distal | NA | NA | |
1 | 25,978,508 | A | G | false | distal | 33 | rs298443 | 0.000069 | 0.20971 | 223.01 | intron_variant | dELS | ENSG00000158006 | 1,734 | ENSG00000158006 | 3,855 | 1,734 | ENSG00000158006 | dELS | ENSG00000158006 | 19,112 | ENSG00000158006 | 5,600 | 5,600 | ENSG00000158006 | distal | NA | NA | |
1 | 26,007,693 | C | T | false | distal | 153 | rs12064124 | 0.000062 | 0.36342 | 179.7 | intergenic_variant | pELS | ENSG00000158006 | 9,629 | ENSG00000252691 | 1,393 | 1,393 | ENSG00000252691 | pELS | ENSG00000158006 | 9,629 | ENSG00000252691 | 1,476 | 1,476 | ENSG00000252691 | distal | NA | NA | |
1 | 26,180,902 | C | T | false | splicing | 169 | rs201621670 | 0.000053 | 0.000403 | 3.4944 | splice_donor_region_variant | splice_donor_region_variant | ENSG00000142675 | 5 | ENSG00000142675 | 0 | 0 | ENSG00000142675 | splice_donor_region_variant | ENSG00000142675 | 733 | ENSG00000142675 | 684 | 684 | ENSG00000142675 | splicing | NA | splicing:b1 | |
1 | 26,185,483 | T | C | false | distal | 7 | rs564333411 | 0.000043 | 0.001132 | 5.4457 | intron_variant | dELS_flank | ENSG00000142675 | 296 | ENSG00000142675 | 296 | 296 | ENSG00000142675 | dELS_flank | ENSG00000188782 | 5,077 | ENSG00000142675 | 1,431 | 1,431 | ENSG00000142675 | distal | NA | NA | |
1 | 26,191,282 | T | C | false | splicing | 183 | rs11247865 | 0.001618 | 0.18932 | 266.8 | splice_region_variant | splice_region_variant | ENSG00000188782 | 4 | ENSG00000188782 | 4 | 4 | ENSG00000188782 | splice_region_variant | ENSG00000188782 | 679 | ENSG00000188782 | 653 | 653 | ENSG00000188782 | splicing | NA | splicing:b0 | |
1 | 26,272,755 | A | C | false | distal | 7 | rs537434719 | 0.000059 | 0.001278 | 9.8478 | intron_variant | dELS_flank | ENSG00000130695 | 683 | ENSG00000130695 | 361 | 361 | ENSG00000130695 | dELS_flank | ENSG00000142669 | 7,330 | ENSG00000130695 | 1,289 | 1,289 | ENSG00000130695 | distal | NA | NA | |
1 | 26,297,988 | C | A | false | missense_variant | 86 | rs61750046 | 0.000311 | 0.008269 | 8.3132 | missense_variant | missense_variant | ENSG00000158062 | 0 | ENSG00000158062 | 0 | 0 | ENSG00000158062 | missense_variant | ENSG00000158062 | 5,027 | ENSG00000158062 | 37 | 37 | ENSG00000158062 | missense_variant | NA | NA | |
1 | 26,411,891 | T | C | true | distal | 150 | rs35184161 | 0.99929 | Height | 0.044346 | 26.455 | intron_variant | pELS | ENSG00000131914 | 308 | ENSG00000117682 | 20,390 | 308 | ENSG00000131914 | pELS | ENSG00000131914 | 1,073 | ENSG00000117682 | 20,390 | 1,073 | ENSG00000131914 | distal | NA | NA |
1 | 26,481,121 | G | A | false | distal | 30 | rs145575326 | 0.000116 | 0.053791 | 39.648 | intergenic_variant | dELS | ENSG00000198830 | 4,478 | ENSG00000198830 | 5,494 | 4,478 | ENSG00000198830 | dELS | ENSG00000198830 | 8,605 | ENSG00000198830 | 7,691 | 7,691 | ENSG00000198830 | distal | NA | NA | |
1 | 26,574,244 | C | G | false | 3_prime_UTR_variant | 132 | rs282179 | 0.004599 | 0.22564 | 76.172 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000117676 | 0 | ENSG00000117676 | 0 | 0 | ENSG00000117676 | 3_prime_UTR_variant | ENSG00000117676 | 1,973 | ENSG00000117676 | 3,014 | 1,973 | ENSG00000117676 | 3_prime_UTR_variant | NA | NA | |
1 | 26,695,422 | G | C | true | tss_proximal | 137 | rs114165349 | 0.999565 | ALT,SHBG,TG,UA | 0.023374 | 84.56 | intron_variant | PLS_flank | ENSG00000117713 | 592 | ENSG00000260063 | 1,290 | 592 | ENSG00000117713 | tss_proximal | ENSG00000117713 | 592 | ENSG00000260063 | 1,290 | 592 | ENSG00000117713 | tss_proximal | tss_prox:b1 | tss_prox:b1 |
1 | 26,788,698 | G | A | false | 5_prime_UTR_variant | 125 | rs113210202 | 0.000407 | 0.012258 | 20.499 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000060642 | 0 | ENSG00000060642 | 0 | 0 | ENSG00000060642 | 5_prime_UTR_variant | ENSG00000060642 | 229 | ENSG00000060642 | 610 | 229 | ENSG00000060642 | 5_prime_UTR_variant | NA | NA | |
1 | 26,853,597 | A | C | true | distal | 40 | rs75460349 | 0.911215 | ALP | 0.023521 | 84.264 | intron_variant | dELS | ENSG00000204160 | 128 | ENSG00000204160 | 385 | 128 | ENSG00000204160 | dELS | ENSG00000204160 | 3,234 | ENSG00000204160 | 2,467 | 2,467 | ENSG00000204160 | distal | NA | NA |
1 | 26,977,393 | C | T | true | distal | 154 | rs3010106 | 0.99178 | eBMD | 0.38879 | 83.136 | intergenic_variant | TF | ENSG00000253368 | 16,298 | ENSG00000172746 | 2,771 | 2,771 | ENSG00000172746 | TF | ENSG00000253368 | 16,298 | ENSG00000172746 | 2,771 | 2,771 | ENSG00000172746 | distal | NA | NA |
1 | 27,296,637 | G | A | false | distal | 36 | rs3813790 | 0.000249 | 0.19816 | 99.052 | intron_variant | dELS | ENSG00000142784 | 235 | ENSG00000142784 | 235 | 235 | ENSG00000142784 | dELS | ENSG00000186501 | 25,507 | ENSG00000142784 | 8,376 | 8,376 | ENSG00000142784 | distal | NA | NA | |
1 | 27,333,995 | G | A | false | missense_variant | 100 | rs139999505 | 0.000033 | 0.000543 | 2.8599 | missense_variant | missense_variant | ENSG00000186501 | 0 | ENSG00000186501 | 0 | 0 | ENSG00000186501 | missense_variant | ENSG00000142765 | 8,024 | ENSG00000186501 | 531 | 531 | ENSG00000186501 | missense_variant | NA | NA | |
1 | 27,334,251 | T | G | false | missense_variant | 100 | rs150291870 | 0.000841 | 0.000125 | 1.4559 | missense_variant | missense_variant | ENSG00000186501 | 0 | ENSG00000186501 | 0 | 0 | ENSG00000186501 | missense_variant | ENSG00000142765 | 7,768 | ENSG00000186501 | 787 | 787 | ENSG00000186501 | missense_variant | NA | NA | |
1 | 27,356,039 | C | G | false | missense_variant | 81 | rs17162549 | 0.000511 | 0.035807 | 76.304 | missense_variant | missense_variant | ENSG00000142733 | 0 | ENSG00000142733 | 0 | 0 | ENSG00000142733 | missense_variant | ENSG00000142733 | 431 | ENSG00000142733 | 1,127 | 431 | ENSG00000142733 | missense_variant | NA | NA | |
1 | 27,360,494 | C | A | false | distal | 40 | rs114065221 | 0.000132 | 0.024287 | 76.352 | intron_variant | dELS | ENSG00000142733 | 125 | ENSG00000142733 | 125 | 125 | ENSG00000142733 | dELS | ENSG00000142733 | 4,022 | ENSG00000142733 | 2,234 | 2,234 | ENSG00000142733 | distal | NA | NA | |
1 | 27,364,301 | C | A | false | missense_variant | 72 | rs41291098 | 0.000616 | 0.004998 | 13.559 | missense_variant | missense_variant | ENSG00000142733 | 0 | ENSG00000142733 | 0 | 0 | ENSG00000142733 | missense_variant | ENSG00000142733 | 2,556 | ENSG00000142733 | 466 | 466 | ENSG00000142733 | missense_variant | NA | NA | |
1 | 27,418,866 | C | T | false | distal | 48 | rs189733068 | 0.000189 | 0.002358 | 17.855 | intron_variant | dELS | ENSG00000158195 | 87 | ENSG00000231207 | 28,720 | 87 | ENSG00000158195 | dELS | ENSG00000181773 | 26,243 | ENSG00000231207 | 29,397 | 26,243 | ENSG00000181773 | distal | NA | NA | |
1 | 27,550,705 | C | T | false | missense_variant | 106 | rs147276945 | 0.000221 | 0.010911 | 15.812 | missense_variant | missense_variant | ENSG00000126705 | 0 | ENSG00000126705 | 163 | 0 | ENSG00000126705 | missense_variant | ENSG00000126705 | 52,773 | ENSG00000126705 | 2,839 | 2,839 | ENSG00000126705 | missense_variant | NA | NA | |
1 | 27,822,261 | G | A | false | missense_variant | 98 | rs199785114 | 0.000047 | 0.004742 | 9.9709 | missense_variant | missense_variant | ENSG00000117758 | 0 | ENSG00000270031 | 1,919 | 0 | ENSG00000117758 | missense_variant | ENSG00000117751 | 8,520 | ENSG00000223062 | 2,276 | 2,276 | ENSG00000223062 | missense_variant | NA | NA | |
1 | 27,945,270 | G | A | false | missense_variant | 77 | rs141035438 | 0.000559 | 0.000605 | 10.896 | missense_variant | missense_variant | ENSG00000130768 | 0 | ENSG00000130768 | 0 | 0 | ENSG00000130768 | missense_variant | ENSG00000130768 | 10,159 | ENSG00000130768 | 10,213 | 10,159 | ENSG00000130768 | missense_variant | NA | NA | |
1 | 28,262,821 | C | G | false | distal | 34 | rs12138793 | 0.00225 | 0.32614 | 306.4 | intron_variant | dELS | ENSG00000130766 | 2,883 | ENSG00000271398 | 15,252 | 2,883 | ENSG00000130766 | dELS | ENSG00000130766 | 3,302 | ENSG00000271398 | 15,676 | 3,302 | ENSG00000130766 | distal | NA | NA | |
1 | 28,262,824 | A | T | false | distal | 34 | rs12127864 | 0.004584 | 0.32161 | 300.21 | intron_variant | dELS | ENSG00000130766 | 2,886 | ENSG00000271398 | 15,255 | 2,886 | ENSG00000130766 | dELS | ENSG00000130766 | 3,305 | ENSG00000271398 | 15,679 | 3,305 | ENSG00000130766 | distal | NA | NA | |
1 | 28,263,759 | C | T | false | distal | 34 | rs503048 | 0.004709 | 0.3215 | 300.07 | intron_variant | dELS | ENSG00000130766 | 3,821 | ENSG00000271398 | 16,190 | 3,821 | ENSG00000130766 | dELS | ENSG00000130766 | 4,240 | ENSG00000271398 | 16,614 | 4,240 | ENSG00000130766 | distal | NA | NA | |
1 | 28,263,808 | T | C | false | distal | 34 | rs502273 | 0.004462 | 0.32155 | 300.04 | intron_variant | dELS | ENSG00000130766 | 3,870 | ENSG00000271398 | 16,239 | 3,870 | ENSG00000130766 | dELS | ENSG00000130766 | 4,289 | ENSG00000271398 | 16,663 | 4,289 | ENSG00000130766 | distal | NA | NA | |
1 | 28,553,045 | C | A | false | tss_proximal | 172 | rs78405969 | 0.000024 | 0.016841 | 26.374 | upstream_gene_variant | PLS | ENSG00000180098 | 39 | ENSG00000180098 | 41 | 39 | ENSG00000180098 | tss_proximal | ENSG00000180098 | 39 | ENSG00000180098 | 41 | 39 | ENSG00000180098 | tss_proximal | tss_prox:b0 | tss_prox:b0 | |
1 | 28,663,475 | T | C | false | distal | 10 | rs6688344 | 0.000663 | 0.41797 | 347.03 | intergenic_variant | dELS_flank | ENSG00000162419 | 5,302 | ENSG00000274978 | 14,741 | 5,302 | ENSG00000162419 | dELS_flank | ENSG00000162419 | 5,302 | ENSG00000274978 | 14,874 | 5,302 | ENSG00000162419 | distal | NA | NA | |
1 | 28,725,056 | G | A | false | distal | 162 | rs61787564 | 0.000098 | 0.17989 | 128.64 | intergenic_variant | intergenic_variant | ENSG00000162419 | 5,702 | ENSG00000162419 | 9,990 | 5,702 | ENSG00000162419 | intergenic_variant | ENSG00000198492 | 11,564 | ENSG00000198492 | 11,893 | 11,564 | ENSG00000198492 | distal | NA | NA | |
1 | 28,862,203 | T | C | false | distal | 130 | rs204077 | 0.001303 | 0.36698 | 171.9 | intron_variant | CA | ENSG00000116329 | 538 | ENSG00000233427 | 8,279 | 538 | ENSG00000116329 | CA | ENSG00000159023 | 24,887 | ENSG00000233427 | 15,132 | 15,132 | ENSG00000233427 | distal | NA | NA | |
1 | 29,058,080 | T | C | false | tss_proximal | 165 | rs2788891 | 0.003467 | 0.19957 | 230.89 | intron_variant | dELS | ENSG00000159023 | 508 | ENSG00000159023 | 508 | 508 | ENSG00000159023 | tss_proximal | ENSG00000159023 | 4,915 | ENSG00000159023 | 523 | 523 | ENSG00000159023 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
1 | 29,145,923 | C | T | false | distal | 153 | rs2452783 | 0.001453 | 0.35819 | 187.21 | intron_variant | pELS | ENSG00000116350 | 1,819 | ENSG00000225750 | 431 | 431 | ENSG00000225750 | pELS | ENSG00000253304 | 22,019 | ENSG00000225750 | 1,070 | 1,070 | ENSG00000225750 | distal | NA | NA | |
1 | 29,159,616 | C | T | true | non_coding_transcript_exon_variant | 117 | rs113292219 | 0.98168 | Ht | 0.053917 | 46.635 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000116350 | 129 | ENSG00000116350 | 0 | 0 | ENSG00000116350 | non_coding_transcript_exon_variant | ENSG00000116350 | 22,265 | ENSG00000116350 | 64 | 64 | ENSG00000116350 | non_coding_transcript_exon_variant | NA | NA |
1 | 29,804,483 | G | T | false | distal | 46 | rs4949476 | 0.000039 | 0.42264 | 60.244 | intergenic_variant | dELS | ENSG00000060656 | 477,669 | ENSG00000284676 | 13,885 | 13,885 | ENSG00000284676 | dELS | ENSG00000060656 | 567,843 | ENSG00000284676 | 49,307 | 49,307 | ENSG00000284676 | distal | NA | NA | |
1 | 29,805,402 | G | A | false | distal | 46 | rs35337979 | 0.000042 | 0.41625 | 62.36 | intergenic_variant | dELS | ENSG00000060656 | 478,588 | ENSG00000284676 | 14,804 | 14,804 | ENSG00000284676 | dELS | ENSG00000060656 | 568,762 | ENSG00000284676 | 50,226 | 50,226 | ENSG00000284676 | distal | NA | NA | |
1 | 30,419,013 | G | C | false | distal | 69 | rs35500178 | 0.000023 | 0.2817 | 38.578 | intron_variant | dELS | ENSG00000289710 | 157,641 | ENSG00000231949 | 1,770 | 1,770 | ENSG00000231949 | dELS | ENSG00000289710 | 157,811 | ENSG00000231949 | 3,187 | 3,187 | ENSG00000231949 | distal | NA | NA | |
1 | 30,710,488 | C | A | false | distal | 155 | rs12758995 | 0.000103 | 0.075866 | 63.594 | downstream_gene_variant | TF | ENSG00000162510 | 788 | ENSG00000162510 | 3,278 | 788 | ENSG00000162510 | TF | ENSG00000162510 | 13,096 | ENSG00000162510 | 5,646 | 5,646 | ENSG00000162510 | distal | NA | NA | |
1 | 30,710,588 | G | T | false | distal | 155 | rs12757994 | 0.000108 | 0.075879 | 63.594 | downstream_gene_variant | TF | ENSG00000162510 | 688 | ENSG00000162510 | 3,178 | 688 | ENSG00000162510 | TF | ENSG00000162510 | 12,996 | ENSG00000162510 | 5,546 | 5,546 | ENSG00000162510 | distal | NA | NA | |
1 | 30,725,886 | A | G | false | non_coding_transcript_exon_variant | 121 | rs1149048 | 0.00063 | 0.47672 | 78.107 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000162510 | 2,300 | ENSG00000186056 | 0 | 0 | ENSG00000186056 | non_coding_transcript_exon_variant | ENSG00000162510 | 2,300 | ENSG00000186056 | 165 | 165 | ENSG00000186056 | non_coding_transcript_exon_variant | NA | NA | |
1 | 30,752,875 | C | T | false | distal | 62 | rs1746056 | 0.001271 | 0.39368 | 55.946 | intron_variant | dELS | ENSG00000162511 | 4,783 | ENSG00000162511 | 4,783 | 4,783 | ENSG00000162511 | dELS | ENSG00000162511 | 4,898 | ENSG00000162511 | 4,881 | 4,881 | ENSG00000162511 | distal | NA | NA | |
1 | 30,815,496 | C | T | false | non_coding_transcript_exon_variant | 119 | rs72657206 | 0.000436 | 0.051359 | 25.495 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000162512 | 53,969 | ENSG00000229607 | 0 | 0 | ENSG00000229607 | non_coding_transcript_exon_variant | ENSG00000162511 | 57,721 | ENSG00000229607 | 56 | 56 | ENSG00000229607 | non_coding_transcript_exon_variant | NA | NA | |
1 | 30,862,532 | A | G | false | distal | 154 | rs2796208 | 0.000021 | 0.38504 | 38.247 | intergenic_variant | TF | ENSG00000162512 | 6,933 | ENSG00000235143 | 2,277 | 2,277 | ENSG00000235143 | TF | ENSG00000162512 | 16,207 | ENSG00000235143 | 4,373 | 4,373 | ENSG00000235143 | distal | NA | NA | |
1 | 30,914,674 | T | G | false | distal | 155 | rs61778226 | 0.000055 | 0.060354 | 103.76 | intergenic_variant | TF | ENSG00000162512 | 5,915 | ENSG00000266210 | 3,794 | 3,794 | ENSG00000266210 | TF | ENSG00000162512 | 5,915 | ENSG00000266210 | 4,060 | 4,060 | ENSG00000266210 | distal | NA | NA | |
1 | 30,915,857 | T | A | false | distal | 154 | rs34097660 | 0.000201 | 0.40683 | 129.07 | intergenic_variant | TF | ENSG00000162512 | 7,098 | ENSG00000266210 | 2,611 | 2,611 | ENSG00000266210 | TF | ENSG00000162512 | 7,098 | ENSG00000266210 | 2,877 | 2,877 | ENSG00000266210 | distal | NA | NA | |
1 | 31,003,983 | T | C | false | distal | 49 | rs12404568 | 0.000266 | 0.09547 | 45.689 | intron_variant | dELS | ENSG00000134644 | 1,869 | ENSG00000134644 | 1,869 | 1,869 | ENSG00000134644 | dELS | ENSG00000134644 | 8,878 | ENSG00000134644 | 21,837 | 8,878 | ENSG00000134644 | distal | NA | NA | |
1 | 31,094,741 | T | C | false | tss_proximal | 176 | rs4245632 | 0.000023 | 0.46283 | 199.54 | downstream_gene_variant | pELS | ENSG00000134644 | 28,749 | ENSG00000215900 | 245 | 245 | ENSG00000215900 | tss_proximal | ENSG00000134644 | 28,749 | ENSG00000215900 | 816 | 816 | ENSG00000215900 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 31,411,333 | T | C | false | distal | 163 | rs1934290 | 0.001238 | 0.42791 | 379.85 | intron_variant | pELS_flank | ENSG00000168528 | 897 | ENSG00000168528 | 897 | 897 | ENSG00000168528 | pELS_flank | ENSG00000168528 | 1,158 | ENSG00000168528 | 1,115 | 1,115 | ENSG00000168528 | distal | NA | NA | |
1 | 31,419,345 | C | T | false | distal | 45 | rs12164635 | 0.000313 | 0.12231 | 274.18 | intron_variant | dELS | ENSG00000168528 | 4,347 | ENSG00000168528 | 3,437 | 3,437 | ENSG00000168528 | dELS | ENSG00000168528 | 5,531 | ENSG00000168528 | 5,531 | 5,531 | ENSG00000168528 | distal | NA | NA | |
1 | 31,429,432 | G | A | false | missense_variant | 107 | rs34728687 | 0.000306 | 0.11843 | 264.7 | missense_variant | missense_variant | ENSG00000168528 | 0 | ENSG00000168528 | 0 | 0 | ENSG00000168528 | missense_variant | ENSG00000168528 | 15,618 | ENSG00000168528 | 15,618 | 15,618 | ENSG00000168528 | missense_variant | NA | NA | |
1 | 31,619,609 | G | A | false | missense_variant | 110 | rs75232948 | 0.000025 | 0.001805 | 4.8674 | missense_variant | missense_variant | ENSG00000121764 | 0 | ENSG00000121764 | 0 | 0 | ENSG00000121764 | missense_variant | ENSG00000121764 | 415 | ENSG00000121764 | 568 | 415 | ENSG00000121764 | missense_variant | NA | NA | |
1 | 31,763,266 | C | A | false | tss_proximal | 141 | rs12028238 | 0.000014 | 0.037066 | 37.853 | intron_variant | pELS | ENSG00000121753 | 617 | ENSG00000266580 | 4,530 | 617 | ENSG00000121753 | tss_proximal | ENSG00000121753 | 655 | ENSG00000266580 | 4,530 | 655 | ENSG00000121753 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 31,790,989 | G | A | false | missense_variant | 99 | rs35252813 | 0.000014 | 0.035589 | 36.273 | missense_variant | missense_variant | ENSG00000134668 | 0 | ENSG00000134668 | 0 | 0 | ENSG00000134668 | missense_variant | ENSG00000134668 | 7,726 | ENSG00000254545 | 1,858 | 1,858 | ENSG00000254545 | missense_variant | NA | NA | |
1 | 31,814,462 | G | A | false | missense_variant | 81 | rs61741268 | 0.000051 | 0.032469 | 29.201 | missense_variant | missense_variant | ENSG00000134668 | 0 | ENSG00000134668 | 332 | 0 | ENSG00000134668 | missense_variant | ENSG00000134668 | 912 | ENSG00000134668 | 332 | 332 | ENSG00000134668 | missense_variant | NA | NA | |
1 | 32,073,322 | G | C | false | tss_proximal | 136 | rs56173950 | 0.00002 | 0.014914 | 48.837 | intron_variant | PLS | ENSG00000121775 | 270 | ENSG00000203325 | 14 | 14 | ENSG00000203325 | tss_proximal | ENSG00000121775 | 382 | ENSG00000203325 | 151 | 151 | ENSG00000203325 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 32,173,456 | G | C | false | 3_prime_UTR_variant | 132 | rs35378339 | 0.000019 | 0.22454 | 49.713 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000025800 | 0 | ENSG00000025800 | 282 | 0 | ENSG00000025800 | 3_prime_UTR_variant | ENSG00000084652 | 6,218 | ENSG00000250135 | 2,722 | 2,722 | ENSG00000250135 | 3_prime_UTR_variant | NA | NA | |
1 | 32,202,008 | C | T | false | missense_variant | 82 | rs1407134 | 0.000014 | 0.016659 | 88.567 | missense_variant | missense_variant | ENSG00000160050 | 0 | ENSG00000160050 | 0 | 0 | ENSG00000160050 | missense_variant | ENSG00000160050 | 1,359 | ENSG00000160050 | 311 | 311 | ENSG00000160050 | missense_variant | NA | NA | |
1 | 32,204,317 | G | A | false | missense_variant | 79 | rs140234450 | 0.000011 | 0.007023 | 22.881 | missense_variant | missense_variant | ENSG00000160050 | 0 | ENSG00000160050 | 0 | 0 | ENSG00000160050 | missense_variant | ENSG00000160051 | 1,353 | ENSG00000160050 | 1,086 | 1,086 | ENSG00000160050 | missense_variant | NA | NA | |
1 | 32,207,307 | T | G | false | missense_variant | 108 | rs3903683 | 0.001067 | 0.063788 | 210.24 | missense_variant | missense_variant | ENSG00000160051 | 0 | ENSG00000160051 | 0 | 0 | ENSG00000160051 | missense_variant | ENSG00000160051 | 1,635 | ENSG00000224066 | 492 | 492 | ENSG00000224066 | missense_variant | NA | NA | |
1 | 32,208,072 | C | T | false | missense_variant | 79 | rs41306593 | 0.000091 | 0.006729 | 18.288 | missense_variant | missense_variant | ENSG00000160051 | 0 | ENSG00000160051 | 0 | 0 | ENSG00000160051 | missense_variant | ENSG00000222046 | 1,016 | ENSG00000222046 | 1,023 | 1,016 | ENSG00000222046 | missense_variant | NA | NA |
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