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 | 227,401,775 | C | T | false | distal | 54 | rs7525625 | 0.001724 | 0.15041 | 228.15 | intron_variant | dELS | ENSG00000143776 | 83,282 | ENSG00000234277 | 6,160 | 6,160 | ENSG00000234277 | dELS | ENSG00000143776 | 83,282 | ENSG00000234277 | 7,989 | 7,989 | ENSG00000234277 | distal | NA | NA | |
1 | 227,401,777 | A | C | false | distal | 54 | rs115037135 | 0.001706 | 0.15027 | 228.06 | intron_variant | dELS | ENSG00000143776 | 83,284 | ENSG00000234277 | 6,162 | 6,162 | ENSG00000234277 | dELS | ENSG00000143776 | 83,284 | ENSG00000234277 | 7,987 | 7,987 | ENSG00000234277 | distal | NA | NA | |
1 | 227,562,151 | C | G | false | tss_proximal | 177 | rs12033610 | 0.000731 | 0.42143 | 340.93 | downstream_gene_variant | CA-H3K4me3_flank | ENSG00000181450 | 1,391 | ENSG00000202264 | 850 | 850 | ENSG00000202264 | tss_proximal | ENSG00000181450 | 1,391 | ENSG00000202264 | 969 | 969 | ENSG00000202264 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 227,732,402 | G | A | false | missense_variant | 103 | rs3087908 | 0.000219 | 0.17973 | 252.6 | missense_variant | missense_variant | ENSG00000081692 | 0 | ENSG00000081692 | 0 | 0 | ENSG00000081692 | missense_variant | ENSG00000143740 | 2,593 | ENSG00000081692 | 1,968 | 1,968 | ENSG00000081692 | missense_variant | NA | NA | |
1 | 227,732,613 | C | T | false | missense_variant | 79 | rs41270155 | 0.000063 | 0.008691 | 47.802 | missense_variant | missense_variant | ENSG00000081692 | 0 | ENSG00000081692 | 0 | 0 | ENSG00000081692 | missense_variant | ENSG00000143740 | 2,382 | ENSG00000081692 | 1,757 | 1,757 | ENSG00000081692 | missense_variant | NA | NA | |
1 | 227,735,217 | A | C | false | missense_variant | 92 | rs2295994 | 0.001488 | 0.41647 | 257.31 | missense_variant | missense_variant | ENSG00000143740 | 0 | ENSG00000143740 | 0 | 0 | ENSG00000143740 | missense_variant | ENSG00000081692 | 84 | ENSG00000081692 | 140 | 84 | ENSG00000081692 | missense_variant | NA | NA | |
1 | 227,747,743 | A | G | false | missense_variant | 92 | rs2236359 | 0.001209 | 0.4167 | 256.59 | missense_variant | missense_variant | ENSG00000143740 | 0 | ENSG00000143740 | 0 | 0 | ENSG00000143740 | missense_variant | ENSG00000143740 | 319 | ENSG00000230005 | 551 | 319 | ENSG00000143740 | missense_variant | NA | NA | |
1 | 227,898,171 | C | T | false | distal | 61 | rs12135990 | 0.000511 | 0.020053 | 49.856 | intergenic_variant | dELS | ENSG00000143816 | 20,484 | ENSG00000264483 | 43,418 | 20,484 | ENSG00000143816 | dELS | ENSG00000143816 | 49,760 | ENSG00000264483 | 43,511 | 43,511 | ENSG00000264483 | distal | NA | NA | |
1 | 228,100,012 | C | T | false | distal | 40 | rs112287670 | 0.001262 | 0.022769 | 88.903 | downstream_gene_variant | dELS | ENSG00000143793 | 718 | ENSG00000143793 | 713 | 713 | ENSG00000143793 | dELS | ENSG00000143793 | 3,312 | ENSG00000284163 | 2,748 | 2,748 | ENSG00000284163 | distal | NA | NA | |
1 | 228,102,332 | T | C | false | missense_variant | 82 | rs61825155 | 0.000841 | 0.015625 | 74.284 | missense_variant | missense_variant | ENSG00000143793 | 0 | ENSG00000143793 | 0 | 0 | ENSG00000143793 | missense_variant | ENSG00000143793 | 992 | ENSG00000143793 | 669 | 669 | ENSG00000143793 | missense_variant | NA | NA | |
1 | 228,214,420 | A | G | false | missense_variant | 92 | rs1771487 | 0.000098 | 0.39692 | 325.6 | missense_variant | missense_variant | ENSG00000154358 | 0 | ENSG00000162913 | 755 | 0 | ENSG00000154358 | missense_variant | ENSG00000154358 | 794 | ENSG00000162913 | 755 | 755 | ENSG00000162913 | missense_variant | NA | NA | |
1 | 228,245,516 | A | G | false | synonymous_variant | 187 | rs2487384 | 0.000048 | 0.32035 | 225.1 | synonymous_variant | synonymous_variant | ENSG00000154358 | 0 | ENSG00000269934 | 5,745 | 0 | ENSG00000154358 | synonymous_variant | ENSG00000154358 | 29,826 | ENSG00000154358 | 22,118 | 22,118 | ENSG00000154358 | synonymous_variant | NA | NA | |
1 | 228,246,694 | T | C | false | synonymous_variant | 187 | rs7517088 | 0.000048 | 0.32038 | 225.1 | synonymous_variant | synonymous_variant | ENSG00000154358 | 0 | ENSG00000269934 | 6,923 | 0 | ENSG00000154358 | synonymous_variant | ENSG00000154358 | 30,483 | ENSG00000154358 | 20,940 | 20,940 | ENSG00000154358 | synonymous_variant | NA | NA | |
1 | 228,246,766 | T | C | false | synonymous_variant | 187 | rs7517108 | 0.000048 | 0.31997 | 225.3 | synonymous_variant | synonymous_variant | ENSG00000154358 | 0 | ENSG00000269934 | 6,995 | 0 | ENSG00000154358 | synonymous_variant | ENSG00000154358 | 30,411 | ENSG00000154358 | 20,868 | 20,868 | ENSG00000154358 | synonymous_variant | NA | NA | |
1 | 228,264,331 | G | A | false | missense_variant | 97 | rs55706639 | 0.000087 | 0.002592 | 59.737 | missense_variant | missense_variant | ENSG00000154358 | 0 | ENSG00000269934 | 2,009 | 0 | ENSG00000154358 | missense_variant | ENSG00000154358 | 12,846 | ENSG00000154358 | 3,303 | 3,303 | ENSG00000154358 | missense_variant | NA | NA | |
1 | 228,268,532 | C | T | false | missense_variant | 100 | rs550117207 | 0.000195 | 0.000073 | 3.3891 | missense_variant | missense_variant | ENSG00000154358 | 0 | ENSG00000269934 | 0 | 0 | ENSG00000154358 | missense_variant | ENSG00000154358 | 8,645 | ENSG00000154358 | 896 | 896 | ENSG00000154358 | missense_variant | NA | NA | |
1 | 228,277,645 | A | G | false | missense_variant | 96 | rs493945 | 0.000097 | 0.38865 | 301.27 | missense_variant | missense_variant | ENSG00000154358 | 0 | ENSG00000154358 | 0 | 0 | ENSG00000154358 | missense_variant | ENSG00000154358 | 466 | ENSG00000154358 | 1,510 | 466 | ENSG00000154358 | missense_variant | NA | NA | |
1 | 229,243,142 | G | A | false | tss_proximal | 176 | rs342788 | 0.000166 | 0.46823 | 72.766 | upstream_gene_variant | upstream_gene_variant | ENSG00000168118 | 27,919 | ENSG00000233920 | 239 | 239 | ENSG00000233920 | tss_proximal | ENSG00000168118 | 27,919 | ENSG00000233920 | 239 | 239 | ENSG00000233920 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 229,255,652 | G | C | false | distal | 44 | rs535859360 | 0.002112 | 0.002303 | 4.3768 | intergenic_variant | dELS | ENSG00000168118 | 15,409 | ENSG00000177788 | 1,239 | 1,239 | ENSG00000177788 | dELS | ENSG00000168118 | 15,409 | ENSG00000177800 | 6,015 | 6,015 | ENSG00000177800 | distal | NA | NA | |
1 | 229,418,987 | G | A | false | distal | 9 | rs114507692 | 0.000071 | 0.065121 | 31.312 | intergenic_variant | dELS_flank | ENSG00000143632 | 11,377 | ENSG00000230331 | 6,032 | 6,032 | ENSG00000230331 | dELS_flank | ENSG00000143632 | 15,106 | ENSG00000230331 | 6,032 | 6,032 | ENSG00000230331 | distal | NA | NA | |
1 | 229,432,885 | A | G | false | splicing | 183 | rs11803533 | 0.000064 | 0.17173 | 196.68 | splice_region_variant | splice_region_variant | ENSG00000143632 | 4 | ENSG00000290037 | 1,045 | 4 | ENSG00000143632 | splice_region_variant | ENSG00000143632 | 1,208 | ENSG00000290037 | 1,518 | 1,208 | ENSG00000143632 | splicing | NA | splicing:b0 | |
1 | 229,487,116 | A | G | false | distal | 1 | rs12030128 | 0.002817 | 0.2054 | 211.68 | intron_variant | dELS_flank | ENSG00000069248 | 349 | ENSG00000069248 | 12,050 | 349 | ENSG00000069248 | dELS_flank | ENSG00000069248 | 21,224 | ENSG00000069248 | 21,209 | 21,209 | ENSG00000069248 | distal | NA | NA | |
1 | 229,537,208 | G | A | true | distal | 153 | rs348330 | 0.989705 | Glucose,HbA1c | 0.36609 | 122.87 | intron_variant | pELS | ENSG00000135776 | 2,247 | ENSG00000199672 | 2,018 | 2,018 | ENSG00000199672 | pELS | ENSG00000135776 | 21,498 | ENSG00000199672 | 2,018 | 2,018 | ENSG00000199672 | distal | NA | NA |
1 | 229,614,292 | G | A | false | missense_variant | 73 | rs191798945 | 0.002057 | 0.016138 | 37.666 | missense_variant | missense_variant | ENSG00000135801 | 0 | ENSG00000135801 | 48 | 0 | ENSG00000135801 | missense_variant | ENSG00000135801 | 11,677 | ENSG00000135801 | 11,745 | 11,677 | ENSG00000135801 | missense_variant | NA | NA | |
1 | 229,841,036 | A | T | false | distal | 21 | rs78656808 | 0.001083 | 0.19295 | 40.28 | intron_variant | dELS_flank | ENSG00000135763 | 180,835 | ENSG00000227043 | 4,957 | 4,957 | ENSG00000227043 | dELS_flank | ENSG00000135763 | 190,188 | ENSG00000227043 | 50,965 | 50,965 | ENSG00000227043 | distal | NA | NA | |
1 | 230,056,348 | C | T | false | distal | 64 | rs10082048 | 0.001311 | 0.21785 | 104.56 | intergenic_variant | dELS | ENSG00000143641 | 10,889 | ENSG00000143641 | 1,641 | 1,641 | ENSG00000143641 | dELS | ENSG00000143641 | 10,889 | ENSG00000143641 | 1,641 | 1,641 | ENSG00000143641 | distal | NA | NA | |
1 | 230,067,172 | C | T | false | tss_proximal | 172 | rs183724411 | 0.000107 | 0.018198 | 34.765 | intron_variant | PLS | ENSG00000143641 | 65 | ENSG00000143641 | 86 | 65 | ENSG00000143641 | tss_proximal | ENSG00000143641 | 65 | ENSG00000143641 | 86 | 65 | ENSG00000143641 | tss_proximal | tss_prox:b0 | tss_prox:b0 | |
1 | 230,142,804 | C | T | false | distal | 68 | rs141032885 | 0.00014 | 0.004547 | 6.503 | intron_variant | dELS | ENSG00000143641 | 35,413 | ENSG00000143641 | 35,413 | 35,413 | ENSG00000143641 | dELS | ENSG00000143641 | 75,565 | ENSG00000143641 | 75,544 | 75,544 | ENSG00000143641 | distal | NA | NA | |
1 | 230,143,688 | A | G | false | distal | 68 | rs530097350 | 0.000072 | 0.002875 | 6.8312 | intron_variant | dELS | ENSG00000143641 | 34,529 | ENSG00000143641 | 34,529 | 34,529 | ENSG00000143641 | dELS | ENSG00000143641 | 76,449 | ENSG00000143641 | 76,428 | 76,428 | ENSG00000143641 | distal | NA | NA | |
1 | 230,144,052 | G | A | false | distal | 68 | rs145821367 | 0.000098 | 0.002013 | 4.5271 | intron_variant | dELS | ENSG00000143641 | 34,165 | ENSG00000143641 | 34,165 | 34,165 | ENSG00000143641 | dELS | ENSG00000143641 | 76,813 | ENSG00000143641 | 76,792 | 76,792 | ENSG00000143641 | distal | NA | NA | |
1 | 230,144,367 | C | T | true | distal | 68 | rs6678475 | 0.995455 | HDLC | 0.03248 | 17.564 | intron_variant | dELS | ENSG00000143641 | 33,850 | ENSG00000143641 | 33,850 | 33,850 | ENSG00000143641 | dELS | ENSG00000143641 | 77,128 | ENSG00000143641 | 77,107 | 77,107 | ENSG00000143641 | distal | NA | NA |
1 | 230,144,949 | C | T | false | distal | 68 | rs115047514 | 0.000753 | 0.046472 | 45.493 | intron_variant | dELS | ENSG00000143641 | 33,268 | ENSG00000143641 | 33,268 | 33,268 | ENSG00000143641 | dELS | ENSG00000143641 | 77,710 | ENSG00000143641 | 77,689 | 77,689 | ENSG00000143641 | distal | NA | NA | |
1 | 230,144,999 | C | G | false | distal | 68 | rs562770515 | 0.000084 | 0.004129 | 8.1203 | intron_variant | dELS | ENSG00000143641 | 33,218 | ENSG00000143641 | 33,218 | 33,218 | ENSG00000143641 | dELS | ENSG00000143641 | 77,760 | ENSG00000143641 | 77,739 | 77,739 | ENSG00000143641 | distal | NA | NA | |
1 | 230,145,358 | G | A | false | distal | 68 | rs138591418 | 0.000111 | 0.005411 | 7.0536 | intron_variant | dELS | ENSG00000143641 | 32,859 | ENSG00000143641 | 32,859 | 32,859 | ENSG00000143641 | dELS | ENSG00000143641 | 78,119 | ENSG00000143641 | 78,098 | 78,098 | ENSG00000143641 | distal | NA | NA | |
1 | 230,146,944 | C | T | false | distal | 68 | rs112724739 | 0.000088 | 0.011873 | 16.068 | intron_variant | dELS | ENSG00000143641 | 31,273 | ENSG00000143641 | 31,273 | 31,273 | ENSG00000143641 | dELS | ENSG00000143641 | 79,705 | ENSG00000143641 | 79,684 | 79,684 | ENSG00000143641 | distal | NA | NA | |
1 | 230,181,406 | A | C | true | distal | 149 | rs149481992 | 0.99476 | TG | 0.00231 | 6.3709 | intron_variant | intron_variant | ENSG00000143641 | 3,094 | ENSG00000143641 | 3,094 | 3,094 | ENSG00000143641 | intron_variant | ENSG00000143641 | 114,167 | ENSG00000143641 | 73,951 | 73,951 | ENSG00000143641 | distal | NA | NA |
1 | 230,181,784 | G | A | false | distal | 149 | rs115526761 | 0.000036 | 0.007595 | 38.258 | intron_variant | intron_variant | ENSG00000143641 | 3,472 | ENSG00000143641 | 3,472 | 3,472 | ENSG00000143641 | intron_variant | ENSG00000143641 | 114,545 | ENSG00000143641 | 73,573 | 73,573 | ENSG00000143641 | distal | NA | NA | |
1 | 230,183,505 | G | T | false | distal | 149 | rs770384782 | 0.000069 | 0.001125 | 6.4001 | intron_variant | intron_variant | ENSG00000143641 | 5,193 | ENSG00000143641 | 5,193 | 5,193 | ENSG00000143641 | intron_variant | ENSG00000143641 | 116,266 | ENSG00000143641 | 71,852 | 71,852 | ENSG00000143641 | distal | NA | NA | |
1 | 230,183,886 | G | A | false | distal | 149 | rs2181528 | 0.000058 | 0.001396 | 9.64 | intron_variant | intron_variant | ENSG00000143641 | 5,574 | ENSG00000143641 | 5,574 | 5,574 | ENSG00000143641 | intron_variant | ENSG00000143641 | 116,647 | ENSG00000143641 | 71,471 | 71,471 | ENSG00000143641 | distal | NA | NA | |
1 | 230,183,900 | C | T | false | distal | 149 | rs184569164 | 0.000117 | 0.009979 | 14.817 | intron_variant | intron_variant | ENSG00000143641 | 5,588 | ENSG00000143641 | 5,588 | 5,588 | ENSG00000143641 | intron_variant | ENSG00000143641 | 116,661 | ENSG00000143641 | 71,457 | 71,457 | ENSG00000143641 | distal | NA | NA | |
1 | 230,184,424 | C | T | false | distal | 149 | rs145747441 | 0.000042 | 0.007331 | 18.065 | intron_variant | intron_variant | ENSG00000143641 | 6,112 | ENSG00000143641 | 6,112 | 6,112 | ENSG00000143641 | intron_variant | ENSG00000143641 | 117,185 | ENSG00000143641 | 70,933 | 70,933 | ENSG00000143641 | distal | NA | NA | |
1 | 230,337,075 | G | A | false | tss_proximal | 185 | rs115427060 | 0.000066 | 0.005397 | 7.6079 | intron_variant | dELS_flank | ENSG00000177614 | 32 | ENSG00000177614 | 779 | 32 | ENSG00000177614 | tss_proximal | ENSG00000177614 | 40,569 | ENSG00000177614 | 779 | 779 | ENSG00000177614 | tss_proximal | tss_prox:b2 | tss_prox:b0 | |
1 | 230,711,527 | T | C | false | distal | 40 | rs11568050 | 0.000063 | 0.023249 | 24.291 | intron_variant | dELS | ENSG00000135744 | 548 | ENSG00000244137 | 673 | 548 | ENSG00000135744 | dELS | ENSG00000135744 | 2,594 | ENSG00000135744 | 3,038 | 2,594 | ENSG00000135744 | distal | NA | NA | |
1 | 230,774,919 | T | G | false | distal | 13 | rs3790979 | 0.000612 | 0.35279 | 146.41 | intron_variant | dELS_flank | ENSG00000135773 | 287 | ENSG00000244137 | 1,161 | 287 | ENSG00000135773 | dELS_flank | ENSG00000135773 | 27,503 | ENSG00000135773 | 16,957 | 16,957 | ENSG00000135773 | distal | NA | NA | |
1 | 230,913,226 | G | A | false | distal | 6 | rs6689254 | 0.004679 | 0.12903 | 113.62 | intron_variant | dELS_flank | ENSG00000143643 | 467 | ENSG00000143643 | 467 | 467 | ENSG00000143643 | dELS_flank | ENSG00000143643 | 11,636 | ENSG00000143643 | 8,279 | 8,279 | ENSG00000143643 | distal | NA | NA | |
1 | 230,944,333 | A | G | false | distal | 6 | rs4397661 | 0.003169 | 0.13144 | 114.86 | intron_variant | dELS_flank | ENSG00000143643 | 434 | ENSG00000143643 | 434 | 434 | ENSG00000143643 | dELS_flank | ENSG00000143643 | 19,469 | ENSG00000143643 | 7,695 | 7,695 | ENSG00000143643 | distal | NA | NA | |
1 | 230,944,494 | C | T | false | distal | 6 | rs6703153 | 0.002995 | 0.13147 | 114.87 | intron_variant | dELS_flank | ENSG00000143643 | 595 | ENSG00000143643 | 595 | 595 | ENSG00000143643 | dELS_flank | ENSG00000143643 | 19,630 | ENSG00000143643 | 7,856 | 7,856 | ENSG00000143643 | distal | NA | NA | |
1 | 230,978,150 | G | A | false | tss_proximal | 142 | rs12757827 | 0.000145 | 0.27823 | 101.09 | intron_variant | pELS | ENSG00000143643 | 409 | ENSG00000143643 | 409 | 409 | ENSG00000143643 | tss_proximal | ENSG00000143643 | 645 | ENSG00000143643 | 684 | 645 | ENSG00000143643 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 231,013,931 | T | A | false | distal | 33 | rs12033207 | 0.00009 | 0.21636 | 152.65 | intergenic_variant | dELS | ENSG00000182118 | 5,026 | ENSG00000182118 | 5,244 | 5,026 | ENSG00000182118 | dELS | ENSG00000182118 | 26,322 | ENSG00000283799 | 5,992 | 5,992 | ENSG00000283799 | distal | NA | NA | |
1 | 231,017,083 | T | C | false | distal | 32 | rs11122191 | 0.000141 | 0.10107 | 99.308 | intergenic_variant | dELS | ENSG00000182118 | 1,874 | ENSG00000182118 | 2,092 | 1,874 | ENSG00000182118 | dELS | ENSG00000182118 | 23,170 | ENSG00000283799 | 2,840 | 2,840 | ENSG00000283799 | distal | NA | NA | |
1 | 231,031,221 | C | T | false | distal | 20 | rs35472025 | 0.000035 | 0.045812 | 52.753 | intron_variant | dELS_flank | ENSG00000182118 | 8,699 | ENSG00000182118 | 2,488 | 2,488 | ENSG00000182118 | dELS_flank | ENSG00000182118 | 9,032 | ENSG00000182118 | 2,488 | 2,488 | ENSG00000182118 | distal | NA | NA | |
1 | 231,418,848 | C | G | false | distal | 57 | rs2790861 | 0.003113 | 0.13877 | 212.96 | intron_variant | dELS | ENSG00000135766 | 2,149 | ENSG00000135766 | 1,327 | 1,327 | ENSG00000135766 | dELS | ENSG00000135766 | 2,343 | ENSG00000135766 | 1,494 | 1,494 | ENSG00000135766 | distal | NA | NA | |
1 | 231,529,288 | A | G | false | missense_variant | 104 | rs144584692 | 0.000088 | 0.003719 | 10.602 | missense_variant | missense_variant | ENSG00000116918 | 0 | ENSG00000116918 | 0 | 0 | ENSG00000116918 | missense_variant | ENSG00000116918 | 618 | ENSG00000116918 | 24 | 24 | ENSG00000116918 | missense_variant | NA | NA | |
1 | 231,627,258 | A | G | false | tss_proximal | 139 | rs1865225 | 0.000052 | 0.32162 | 195 | intron_variant | pELS | ENSG00000162946 | 323 | ENSG00000162946 | 323 | 323 | ENSG00000162946 | tss_proximal | ENSG00000162946 | 442 | ENSG00000162946 | 420 | 420 | ENSG00000162946 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 231,770,843 | C | T | false | missense_variant | 85 | rs2492367 | 0.000061 | 0.11581 | 22.025 | missense_variant | missense_variant | ENSG00000162946 | 0 | ENSG00000270106 | 0 | 0 | ENSG00000162946 | missense_variant | ENSG00000162946 | 144,027 | ENSG00000274121 | 44,138 | 44,138 | ENSG00000274121 | missense_variant | NA | NA | |
1 | 232,432,295 | G | A | false | missense_variant | 107 | rs1547742 | 0.000119 | 0.10572 | 28.441 | missense_variant | missense_variant | ENSG00000116991 | 0 | ENSG00000116991 | 0 | 0 | ENSG00000116991 | missense_variant | ENSG00000116991 | 30,121 | ENSG00000116991 | 16,424 | 16,424 | ENSG00000116991 | missense_variant | NA | NA | |
1 | 232,661,566 | A | G | false | distal | 158 | rs146618933 | 0.000012 | 0.003342 | 7.7916 | intergenic_variant | intergenic_variant | ENSG00000116991 | 31,049 | ENSG00000116991 | 30,994 | 30,994 | ENSG00000116991 | intergenic_variant | ENSG00000116991 | 31,049 | ENSG00000116991 | 30,994 | 30,994 | ENSG00000116991 | distal | NA | NA | |
1 | 232,924,257 | C | T | false | distal | 58 | rs192448870 | 0.000022 | 0.006668 | 13.698 | intergenic_variant | dELS | ENSG00000135778 | 26,353 | ENSG00000232175 | 6,238 | 6,238 | ENSG00000232175 | dELS | ENSG00000135778 | 26,353 | ENSG00000232175 | 7,021 | 7,021 | ENSG00000232175 | distal | NA | NA | |
1 | 232,955,717 | T | A | false | splicing | 183 | rs12725558 | 0.000013 | 0.14386 | 27.058 | splice_region_variant | splice_region_variant | ENSG00000135778 | 0 | ENSG00000135778 | 0 | 0 | ENSG00000135778 | splice_region_variant | ENSG00000135778 | 5,076 | ENSG00000135778 | 58 | 58 | ENSG00000135778 | splicing | NA | splicing:b0 | |
1 | 233,058,605 | A | G | false | tss_proximal | 174 | rs10910651 | 0.000012 | 0.16285 | 103.88 | intron_variant | pELS_flank | ENSG00000135749 | 86 | ENSG00000135749 | 1,314 | 86 | ENSG00000135749 | tss_proximal | ENSG00000135749 | 86 | ENSG00000135749 | 3,915 | 86 | ENSG00000135749 | tss_proximal | tss_prox:b0 | tss_prox:b0 | |
1 | 233,061,476 | A | G | false | distal | 28 | rs35138104 | 0.000013 | 0.22896 | 106.76 | intron_variant | dELS | ENSG00000135749 | 2,957 | ENSG00000135749 | 3,984 | 2,957 | ENSG00000135749 | dELS | ENSG00000135749 | 2,957 | ENSG00000135749 | 6,786 | 2,957 | ENSG00000135749 | distal | NA | NA | |
1 | 233,077,826 | A | G | false | distal | 1 | rs6424274 | 0.000008 | 0.20267 | 65.537 | intron_variant | dELS_flank | ENSG00000135749 | 12,234 | ENSG00000135749 | 12,024 | 12,024 | ENSG00000135749 | dELS_flank | ENSG00000135749 | 19,307 | ENSG00000135749 | 23,136 | 19,307 | ENSG00000135749 | distal | NA | NA | |
1 | 233,160,357 | C | T | false | missense_variant | 104 | rs186450312 | 0.000009 | 0.003411 | 7.0685 | missense_variant | missense_variant | ENSG00000135749 | 0 | ENSG00000135749 | 0 | 0 | ENSG00000135749 | missense_variant | ENSG00000135749 | 49 | ENSG00000135749 | 67 | 49 | ENSG00000135749 | missense_variant | NA | NA | |
1 | 233,218,155 | G | A | false | missense_variant | 82 | rs74503807 | 0.001073 | 0.018446 | 126.44 | missense_variant | missense_variant | ENSG00000135749 | 0 | ENSG00000135749 | 0 | 0 | ENSG00000135749 | missense_variant | ENSG00000135749 | 67 | ENSG00000135749 | 65 | 65 | ENSG00000135749 | missense_variant | NA | NA | |
1 | 233,246,761 | A | G | false | distal | 18 | rs115302302 | 0.000117 | 0.009874 | 105.96 | intron_variant | dELS_flank | ENSG00000135749 | 3,977 | ENSG00000135749 | 3,977 | 3,977 | ENSG00000135749 | dELS_flank | ENSG00000135749 | 11,390 | ENSG00000135749 | 5,925 | 5,925 | ENSG00000135749 | distal | NA | NA | |
1 | 233,290,930 | G | T | false | distal | 153 | rs1294327 | 0.000048 | 0.36364 | 60.09 | intron_variant | pELS | ENSG00000135749 | 4,395 | ENSG00000231940 | 1,482 | 1,482 | ENSG00000231940 | pELS | ENSG00000135749 | 4,794 | ENSG00000231940 | 1,482 | 1,482 | ENSG00000231940 | distal | NA | NA | |
1 | 233,356,710 | C | T | false | distal | 31 | rs6665061 | 0.000123 | 0.28001 | 94.82 | intron_variant | dELS | ENSG00000143674 | 1,698 | ENSG00000251508 | 60,982 | 1,698 | ENSG00000143674 | dELS | ENSG00000143674 | 19,072 | ENSG00000251508 | 60,982 | 19,072 | ENSG00000143674 | distal | NA | NA | |
1 | 233,357,954 | G | A | false | distal | 31 | rs3737841 | 0.000065 | 0.32388 | 107.54 | intron_variant | dELS | ENSG00000143674 | 2,942 | ENSG00000251508 | 62,226 | 2,942 | ENSG00000143674 | dELS | ENSG00000143674 | 17,828 | ENSG00000251508 | 62,226 | 17,828 | ENSG00000143674 | distal | NA | NA | |
1 | 233,406,264 | T | C | false | distal | 61 | rs144815207 | 0.000067 | 0.011921 | 19.441 | intergenic_variant | dELS | ENSG00000143674 | 21,115 | ENSG00000252501 | 42,361 | 21,115 | ENSG00000143674 | dELS | ENSG00000143674 | 30,480 | ENSG00000252501 | 42,516 | 30,480 | ENSG00000143674 | distal | NA | NA | |
1 | 233,904,798 | G | A | false | 5_prime_UTR_variant | 124 | rs117615927 | 0.000262 | 0.11447 | 45.878 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000183780 | 0 | ENSG00000287921 | 393 | 0 | ENSG00000183780 | 5_prime_UTR_variant | ENSG00000183780 | 121 | ENSG00000287921 | 1,132 | 121 | ENSG00000183780 | 5_prime_UTR_variant | NA | NA | |
1 | 234,201,832 | G | T | false | distal | 130 | rs10910380 | 0.000126 | 0.40662 | 67.106 | intron_variant | CA | ENSG00000183780 | 12,438 | ENSG00000233332 | 10,773 | 10,773 | ENSG00000233332 | CA | ENSG00000183780 | 12,438 | ENSG00000233332 | 13,255 | 12,438 | ENSG00000183780 | distal | NA | NA | |
1 | 234,278,839 | C | T | false | distal | 60 | rs74522600 | 0.000358 | 0.044727 | 93.377 | intron_variant | dELS | ENSG00000183780 | 30,261 | ENSG00000231272 | 4,373 | 4,373 | ENSG00000231272 | dELS | ENSG00000183780 | 64,567 | ENSG00000232166 | 6,132 | 6,132 | ENSG00000232166 | distal | NA | NA | |
1 | 234,278,923 | G | A | false | distal | 60 | rs79154204 | 0.000355 | 0.044718 | 93.376 | intron_variant | dELS | ENSG00000183780 | 30,177 | ENSG00000231272 | 4,457 | 4,457 | ENSG00000231272 | dELS | ENSG00000183780 | 64,651 | ENSG00000232166 | 6,048 | 6,048 | ENSG00000232166 | distal | NA | NA | |
1 | 234,279,110 | T | C | false | distal | 60 | rs111483981 | 0.000356 | 0.044728 | 93.374 | intron_variant | dELS | ENSG00000183780 | 29,990 | ENSG00000231272 | 4,644 | 4,644 | ENSG00000231272 | dELS | ENSG00000183780 | 64,838 | ENSG00000232166 | 5,861 | 5,861 | ENSG00000232166 | distal | NA | NA | |
1 | 234,279,206 | T | C | false | distal | 60 | rs113151726 | 0.000352 | 0.044687 | 93.318 | intron_variant | dELS | ENSG00000183780 | 29,894 | ENSG00000231272 | 4,740 | 4,740 | ENSG00000231272 | dELS | ENSG00000183780 | 64,934 | ENSG00000232166 | 5,765 | 5,765 | ENSG00000232166 | distal | NA | NA | |
1 | 234,281,671 | G | A | false | distal | 60 | rs76665507 | 0.000066 | 0.052636 | 18.225 | intron_variant | dELS | ENSG00000183780 | 27,429 | ENSG00000232166 | 3,300 | 3,300 | ENSG00000232166 | dELS | ENSG00000183780 | 67,399 | ENSG00000232166 | 3,300 | 3,300 | ENSG00000232166 | distal | NA | NA | |
1 | 234,314,162 | G | A | false | distal | 26 | rs595595 | 0.000053 | 0.36069 | 30.498 | intron_variant | dELS | ENSG00000183780 | 2,439 | ENSG00000264377 | 7,622 | 2,439 | ENSG00000183780 | dELS | ENSG00000168275 | 59,293 | ENSG00000264377 | 7,694 | 7,694 | ENSG00000264377 | distal | NA | NA | |
1 | 234,446,905 | T | C | false | missense_variant | 114 | rs4920246 | 0.000084 | 0.26969 | 87.403 | missense_variant | missense_variant | ENSG00000059588 | 0 | ENSG00000059588 | 26,090 | 0 | ENSG00000059588 | missense_variant | ENSG00000059588 | 32,273 | ENSG00000059588 | 26,090 | 26,090 | ENSG00000059588 | missense_variant | NA | NA | |
1 | 234,609,263 | A | G | false | missense_variant | 88 | rs7545855 | 0.002048 | 0.27261 | 68.141 | missense_variant | missense_variant | ENSG00000168264 | 0 | ENSG00000228830 | 157 | 0 | ENSG00000168264 | missense_variant | ENSG00000168264 | 261 | ENSG00000168264 | 1,168 | 261 | ENSG00000168264 | missense_variant | NA | NA | |
1 | 234,763,741 | G | A | false | distal | 69 | rs10910499 | 0.000488 | 0.28067 | 27.113 | intergenic_variant | dELS | ENSG00000168264 | 153,562 | ENSG00000279261 | 3,684 | 3,684 | ENSG00000279261 | dELS | ENSG00000168264 | 153,562 | ENSG00000279261 | 3,684 | 3,684 | ENSG00000279261 | distal | NA | NA | |
1 | 234,954,661 | C | T | false | distal | 69 | rs10910534 | 0.000147 | 0.29146 | 43.331 | intergenic_variant | dELS | ENSG00000173726 | 154,679 | ENSG00000237520 | 2,569 | 2,569 | ENSG00000237520 | dELS | ENSG00000173726 | 174,175 | ENSG00000237520 | 2,569 | 2,569 | ENSG00000237520 | distal | NA | NA | |
1 | 234,960,804 | A | T | true | distal | 69 | rs10910535 | 0.99995 | GGT | 0.27914 | 25.482 | intron_variant | dELS | ENSG00000173726 | 148,536 | ENSG00000238005 | 569 | 569 | ENSG00000238005 | dELS | ENSG00000173726 | 168,032 | ENSG00000238005 | 1,340 | 1,340 | ENSG00000238005 | distal | NA | NA |
1 | 234,976,670 | A | G | false | distal | 70 | rs6657543 | 0.000141 | 0.047416 | 15.127 | intergenic_variant | dELS | ENSG00000173726 | 132,670 | ENSG00000258082 | 2,143 | 2,143 | ENSG00000258082 | dELS | ENSG00000173726 | 152,166 | ENSG00000258082 | 4,133 | 4,133 | ENSG00000258082 | distal | NA | NA | |
1 | 234,977,261 | G | A | true | distal | 70 | rs72632294 | 0.98042 | Mono | 0.041225 | 12.814 | intergenic_variant | dELS | ENSG00000173726 | 132,079 | ENSG00000258082 | 1,552 | 1,552 | ENSG00000258082 | dELS | ENSG00000173726 | 151,575 | ENSG00000258082 | 3,542 | 3,542 | ENSG00000258082 | distal | NA | NA |
1 | 234,978,369 | C | A | false | distal | 70 | rs76192132 | 0.000183 | 0.047321 | 15.195 | downstream_gene_variant | dELS | ENSG00000173726 | 130,971 | ENSG00000258082 | 444 | 444 | ENSG00000258082 | dELS | ENSG00000173726 | 150,467 | ENSG00000258082 | 2,434 | 2,434 | ENSG00000258082 | distal | NA | NA | |
1 | 235,226,233 | C | T | false | distal | 52 | rs10495361 | 0.001266 | 0.35463 | 418.05 | intron_variant | dELS | ENSG00000054267 | 1,457 | ENSG00000054267 | 1,457 | 1,457 | ENSG00000054267 | dELS | ENSG00000054267 | 12,316 | ENSG00000054267 | 8,258 | 8,258 | ENSG00000054267 | distal | NA | NA | |
1 | 235,248,819 | G | A | false | distal | 13 | rs6673756 | 0.003582 | 0.35228 | 417.88 | intron_variant | dELS_flank | ENSG00000054267 | 2,307 | ENSG00000054267 | 2,307 | 2,307 | ENSG00000054267 | dELS_flank | ENSG00000054267 | 34,902 | ENSG00000054267 | 14,326 | 14,326 | ENSG00000054267 | distal | NA | NA | |
1 | 235,249,170 | T | C | false | distal | 13 | rs4659698 | 0.003018 | 0.35224 | 417.93 | intron_variant | dELS_flank | ENSG00000054267 | 2,658 | ENSG00000054267 | 2,658 | 2,658 | ENSG00000054267 | dELS_flank | ENSG00000054267 | 35,253 | ENSG00000054267 | 14,677 | 14,677 | ENSG00000054267 | distal | NA | NA | |
1 | 235,389,521 | C | T | false | distal | 146 | rs137916132 | 0.00006 | 0.022866 | 133.72 | intron_variant | intron_variant | ENSG00000284770 | 9,371 | ENSG00000284770 | 9,371 | 9,371 | ENSG00000284770 | intron_variant | ENSG00000284770 | 9,473 | ENSG00000284770 | 9,447 | 9,447 | ENSG00000284770 | distal | NA | NA | |
1 | 235,410,648 | T | C | false | distal | 155 | rs12146001 | 0.000101 | 0.058229 | 44.375 | intron_variant | TF | ENSG00000284770 | 3,784 | ENSG00000284770 | 3,227 | 3,227 | ENSG00000284770 | TF | ENSG00000284770 | 30,600 | ENSG00000284770 | 3,838 | 3,838 | ENSG00000284770 | distal | NA | NA | |
1 | 235,536,861 | G | A | false | tss_proximal | 182 | rs11810186 | 0.00019 | 0.011786 | 91.037 | upstream_gene_variant | upstream_gene_variant | ENSG00000168243 | 10,823 | ENSG00000235638 | 658 | 658 | ENSG00000235638 | tss_proximal | ENSG00000162885 | 32,408 | ENSG00000235638 | 658 | 658 | ENSG00000235638 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 235,536,923 | C | A | false | tss_proximal | 182 | rs10802786 | 0.000218 | 0.011752 | 90.912 | upstream_gene_variant | upstream_gene_variant | ENSG00000168243 | 10,761 | ENSG00000235638 | 596 | 596 | ENSG00000235638 | tss_proximal | ENSG00000162885 | 32,470 | ENSG00000235638 | 596 | 596 | ENSG00000235638 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 235,536,925 | T | G | false | tss_proximal | 182 | rs10802787 | 0.000204 | 0.011753 | 90.863 | upstream_gene_variant | upstream_gene_variant | ENSG00000168243 | 10,759 | ENSG00000235638 | 594 | 594 | ENSG00000235638 | tss_proximal | ENSG00000162885 | 32,472 | ENSG00000235638 | 594 | 594 | ENSG00000235638 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 235,665,542 | G | A | false | distal | 6 | rs146619167 | 0.000089 | 0.13134 | 85.141 | intron_variant | dELS_flank | ENSG00000143669 | 920 | ENSG00000143669 | 920 | 920 | ENSG00000143669 | dELS_flank | ENSG00000168243 | 14,787 | ENSG00000143669 | 9,594 | 9,594 | ENSG00000143669 | distal | NA | NA | |
1 | 236,293,059 | G | T | false | distal | 0 | rs489632 | 0.000052 | 0.31789 | 298.49 | intergenic_variant | dELS_flank | ENSG00000086619 | 11,100 | ENSG00000237922 | 6,098 | 6,098 | ENSG00000237922 | dELS_flank | ENSG00000086619 | 11,100 | ENSG00000237922 | 6,098 | 6,098 | ENSG00000237922 | distal | NA | NA | |
1 | 236,318,438 | C | T | false | distal | 158 | rs78382526 | 0.000029 | 0.002578 | 5.5253 | intergenic_variant | intergenic_variant | ENSG00000186197 | 29,818 | ENSG00000237922 | 31,477 | 29,818 | ENSG00000186197 | intergenic_variant | ENSG00000186197 | 29,818 | ENSG00000237922 | 31,477 | 29,818 | ENSG00000186197 | distal | NA | NA | |
1 | 236,416,875 | C | T | false | distal | 49 | rs10925119 | 0.000103 | 0.10247 | 70.551 | intron_variant | dELS | ENSG00000186197 | 2,575 | ENSG00000186197 | 2,575 | 2,575 | ENSG00000186197 | dELS | ENSG00000186197 | 21,461 | ENSG00000186197 | 21,425 | 21,425 | ENSG00000186197 | distal | NA | NA | |
1 | 236,482,189 | G | A | false | tss_proximal | 185 | rs143242987 | 0.000039 | 0.00352 | 3.7247 | intron_variant | intron_variant | ENSG00000186197 | 77 | ENSG00000244457 | 975 | 77 | ENSG00000186197 | tss_proximal | ENSG00000116977 | 35,810 | ENSG00000244457 | 975 | 975 | ENSG00000244457 | tss_proximal | tss_prox:b2 | tss_prox:b0 | |
1 | 236,545,640 | T | C | false | distal | 8 | rs2243963 | 0.003889 | 0.2971 | 451.76 | intron_variant | dELS_flank | ENSG00000116977 | 724 | ENSG00000116977 | 438 | 438 | ENSG00000116977 | dELS_flank | ENSG00000116977 | 19,568 | ENSG00000116977 | 2,343 | 2,343 | ENSG00000116977 | distal | NA | NA | |
1 | 236,545,668 | G | A | false | distal | 8 | rs2243960 | 0.004404 | 0.29701 | 451.74 | intron_variant | dELS_flank | ENSG00000116977 | 752 | ENSG00000116977 | 466 | 466 | ENSG00000116977 | dELS_flank | ENSG00000116977 | 19,596 | ENSG00000116977 | 2,371 | 2,371 | ENSG00000116977 | distal | NA | NA |
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