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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
11 | 72,218,482 | T | A | false | tss_proximal | 355 | rs651646 | 0.000243 | 0.44157 | 106.13 | intron_variant | pELS_flank | ENSG00000165457 | 55 | ENSG00000165458 | 6,586 | 55 | ENSG00000165457 | tss_proximal | ENSG00000165457 | 55 | ENSG00000165458 | 6,586 | 55 | ENSG00000165457 | tss_proximal | tss_prox:b0 | tss_prox:b0 | |
11 | 72,232,917 | C | A | false | missense_variant | 291 | rs61749195 | 0.000068 | 0.014688 | 81.042 | missense_variant | missense_variant | ENSG00000165458 | 0 | ENSG00000165458 | 0 | 0 | ENSG00000165458 | missense_variant | ENSG00000165458 | 4,067 | ENSG00000165458 | 45 | 45 | ENSG00000165458 | missense_variant | NA | NA | |
11 | 72,434,128 | C | G | false | missense_variant | 300 | rs549191970 | 0.000037 | 0.00044 | 6.3088 | missense_variant | missense_variant | ENSG00000162129 | 0 | ENSG00000162129 | 0 | 0 | ENSG00000162129 | missense_variant | ENSG00000162129 | 345 | ENSG00000162129 | 416 | 345 | ENSG00000162129 | missense_variant | NA | NA | |
11 | 72,580,433 | G | A | false | tss_proximal | 374 | rs56350365 | 0.000113 | 0.48011 | 93.372 | intron_variant | dELS_flank | ENSG00000186642 | 143 | ENSG00000186642 | 143 | 143 | ENSG00000186642 | tss_proximal | ENSG00000186642 | 1,935 | ENSG00000186642 | 536 | 536 | ENSG00000186642 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
11 | 72,794,017 | G | A | false | 5_prime_UTR_variant | 282 | rs183339133 | 0.000035 | 0.011211 | 16.119 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000214530 | 0 | ENSG00000285693 | 0 | 0 | ENSG00000214530 | 5_prime_UTR_variant | ENSG00000214530 | 29 | ENSG00000214530 | 359 | 29 | ENSG00000214530 | 5_prime_UTR_variant | NA | NA | |
11 | 72,816,785 | C | T | false | missense_variant | 305 | rs201930699 | 0.000023 | 0.000216 | 3.59 | missense_variant | missense_variant | ENSG00000168010 | 0 | ENSG00000168010 | 0 | 0 | ENSG00000168010 | missense_variant | ENSG00000168010 | 2,352 | ENSG00000168010 | 39 | 39 | ENSG00000168010 | missense_variant | NA | NA | |
11 | 72,816,815 | A | G | false | missense_variant | 305 | rs180875949 | 0.000454 | 0.000165 | 3.1478 | missense_variant | missense_variant | ENSG00000168010 | 0 | ENSG00000168010 | 0 | 0 | ENSG00000168010 | missense_variant | ENSG00000168010 | 2,382 | ENSG00000168010 | 69 | 69 | ENSG00000168010 | missense_variant | NA | NA | |
11 | 72,825,333 | G | A | false | missense_variant | 315 | rs61738587 | 0.000167 | 0.003267 | 15.93 | missense_variant | missense_variant | ENSG00000168010 | 0 | ENSG00000168010 | 0 | 0 | ENSG00000168010 | missense_variant | ENSG00000168010 | 2,849 | ENSG00000168010 | 1,437 | 1,437 | ENSG00000168010 | missense_variant | NA | NA | |
11 | 73,166,919 | G | A | true | distal | 361 | rs1791936 | 0.999885 | Alb | 0.39297 | 82.294 | intron_variant | dELS_flank | ENSG00000137478 | 24,600 | ENSG00000256568 | 8,573 | 8,573 | ENSG00000256568 | dELS_flank | ENSG00000137478 | 24,600 | ENSG00000256568 | 8,972 | 8,972 | ENSG00000256568 | distal | NA | NA |
11 | 73,234,296 | C | T | true | missense_variant | 310 | rs2511241 | 0.99978 | ALT,AST | 0.07148 | 12.056 | missense_variant | missense_variant | ENSG00000175591 | 0 | ENSG00000260401 | 4,678 | 0 | ENSG00000175591 | missense_variant | ENSG00000175591 | 15,838 | ENSG00000260401 | 4,678 | 4,678 | ENSG00000260401 | missense_variant | NA | NA |
11 | 73,235,234 | T | C | true | missense_variant | 311 | rs74472890 | 0.994345 | Baso | 0.049761 | 17.704 | missense_variant | missense_variant | ENSG00000175591 | 0 | ENSG00000260401 | 3,740 | 0 | ENSG00000175591 | missense_variant | ENSG00000175591 | 16,776 | ENSG00000260401 | 3,740 | 3,740 | ENSG00000260401 | missense_variant | NA | NA |
11 | 73,662,507 | G | A | false | splicing | 406 | rs6590 | 0.000067 | 0.11076 | 222.63 | splice_region_variant | splice_region_variant | ENSG00000021300 | 0 | ENSG00000021300 | 0 | 0 | ENSG00000021300 | splice_region_variant | ENSG00000021300 | 13,494 | ENSG00000021300 | 153 | 153 | ENSG00000021300 | splicing | NA | splicing:b0 | |
11 | 73,814,386 | T | C | false | distal | 402 | rs11235916 | 0.000753 | 0.29101 | 272.23 | intron_variant | CA-TF | ENSG00000175581 | 6,035 | ENSG00000175581 | 3,436 | 3,436 | ENSG00000175581 | CA-TF | ENSG00000175581 | 26,455 | ENSG00000175581 | 6,077 | 6,077 | ENSG00000175581 | distal | NA | NA | |
11 | 73,850,770 | A | G | false | tss_proximal | 391 | rs12788929 | 0.000023 | 0.056573 | 338.47 | intron_variant | pELS | ENSG00000175581 | 5,788 | ENSG00000256681 | 84 | 84 | ENSG00000256681 | tss_proximal | ENSG00000175581 | 8,656 | ENSG00000256681 | 440 | 440 | ENSG00000256681 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
11 | 73,850,797 | T | C | false | tss_proximal | 391 | rs79815295 | 0.000023 | 0.056573 | 338.47 | intron_variant | pELS | ENSG00000175581 | 5,815 | ENSG00000256681 | 111 | 111 | ENSG00000256681 | tss_proximal | ENSG00000175581 | 8,683 | ENSG00000256681 | 413 | 413 | ENSG00000256681 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
11 | 73,850,912 | G | A | false | tss_proximal | 391 | rs34527298 | 0.000023 | 0.056573 | 338.47 | intron_variant | pELS_flank | ENSG00000175581 | 5,930 | ENSG00000256681 | 84 | 84 | ENSG00000256681 | tss_proximal | ENSG00000175581 | 8,798 | ENSG00000256681 | 298 | 298 | ENSG00000256681 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
11 | 73,891,646 | T | A | false | distal | 388 | rs34308910 | 0.000023 | 0.056531 | 338.88 | intron_variant | intron_variant | ENSG00000175575 | 444 | ENSG00000175575 | 444 | 444 | ENSG00000175575 | intron_variant | ENSG00000175575 | 2,851 | ENSG00000175575 | 4,568 | 2,851 | ENSG00000175575 | distal | NA | NA | |
11 | 73,891,905 | G | A | false | distal | 388 | rs9651759 | 0.000019 | 0.050245 | 178.46 | intron_variant | intron_variant | ENSG00000175575 | 703 | ENSG00000175575 | 703 | 703 | ENSG00000175575 | intron_variant | ENSG00000175575 | 3,110 | ENSG00000175575 | 4,827 | 3,110 | ENSG00000175575 | distal | NA | NA | |
11 | 74,017,114 | A | G | false | distal | 327 | rs1685333 | 0.000041 | 0.2478 | 241.04 | intron_variant | dELS | ENSG00000168014 | 3,588 | ENSG00000168014 | 312 | 312 | ENSG00000168014 | dELS | ENSG00000175564 | 8,028 | ENSG00000175564 | 14,859 | 8,028 | ENSG00000175564 | distal | NA | NA | |
11 | 74,085,872 | C | T | false | missense_variant | 312 | rs826058 | 0.000264 | 0.29102 | 233.97 | missense_variant | missense_variant | ENSG00000168014 | 0 | ENSG00000168014 | 0 | 0 | ENSG00000168014 | missense_variant | ENSG00000175564 | 76,786 | ENSG00000168014 | 5,491 | 5,491 | ENSG00000168014 | missense_variant | NA | NA | |
11 | 74,103,393 | G | C | false | missense_variant | 299 | rs34050666 | 0.000033 | 0.011687 | 57.907 | missense_variant | missense_variant | ENSG00000168014 | 0 | ENSG00000168014 | 0 | 0 | ENSG00000168014 | missense_variant | ENSG00000168014 | 67,398 | ENSG00000168014 | 6,098 | 6,098 | ENSG00000168014 | missense_variant | NA | NA | |
11 | 74,113,891 | T | A | false | missense_variant | 299 | rs200249364 | 0.000019 | 0.000691 | 10.519 | missense_variant | missense_variant | ENSG00000168014 | 0 | ENSG00000168014 | 0 | 0 | ENSG00000168014 | missense_variant | ENSG00000168014 | 56,900 | ENSG00000168014 | 3,302 | 3,302 | ENSG00000168014 | missense_variant | NA | NA | |
11 | 74,603,820 | A | G | false | tss_proximal | 377 | rs61901540 | 0.001369 | 0.10347 | 110.22 | intron_variant | CA | ENSG00000077514 | 742 | ENSG00000077514 | 8,317 | 742 | ENSG00000077514 | tss_proximal | ENSG00000077514 | 742 | ENSG00000077514 | 11,263 | 742 | ENSG00000077514 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
11 | 74,636,231 | G | A | false | missense_variant | 307 | rs200646605 | 0.000105 | 0.000097 | 1.4372 | missense_variant | missense_variant | ENSG00000077514 | 0 | ENSG00000077514 | 0 | 0 | ENSG00000077514 | missense_variant | ENSG00000077514 | 2,382 | ENSG00000077514 | 7,367 | 2,382 | ENSG00000077514 | missense_variant | NA | NA | |
11 | 74,698,787 | T | C | false | non_coding_transcript_exon_variant | 353 | rs6592591 | 0.000062 | 0.13479 | 34.071 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000054938 | 1,092 | ENSG00000279353 | 0 | 0 | ENSG00000279353 | non_coding_transcript_exon_variant | ENSG00000054938 | 1,092 | ENSG00000279353 | 870 | 870 | ENSG00000279353 | non_coding_transcript_exon_variant | NA | NA | |
11 | 74,907,220 | G | A | false | missense_variant | 297 | rs61736355 | 0.000071 | 0.072694 | 61.56 | missense_variant | missense_variant | ENSG00000166435 | 0 | ENSG00000166435 | 0 | 0 | ENSG00000166435 | missense_variant | ENSG00000166435 | 41,799 | ENSG00000166435 | 0 | 0 | ENSG00000166435 | missense_variant | NA | NA | |
11 | 74,949,010 | C | A | false | missense_variant | 290 | rs12284331 | 0.000169 | 0.034324 | 121.46 | missense_variant | missense_variant | ENSG00000166435 | 0 | ENSG00000166435 | 0 | 0 | ENSG00000166435 | missense_variant | ENSG00000166435 | 9 | ENSG00000166435 | 64 | 9 | ENSG00000166435 | missense_variant | NA | NA | |
11 | 75,082,308 | G | A | false | 3_prime_UTR_variant | 393 | rs12292336 | 0.000244 | 0.12624 | 121.78 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000171561 | 0 | ENSG00000284722 | 1,284 | 0 | ENSG00000171561 | 3_prime_UTR_variant | ENSG00000171561 | 7,445 | ENSG00000284722 | 1,284 | 1,284 | ENSG00000284722 | 3_prime_UTR_variant | NA | NA | |
11 | 75,082,964 | A | G | false | 3_prime_UTR_variant | 393 | rs12288006 | 0.000444 | 0.12707 | 121.76 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000171561 | 0 | ENSG00000284722 | 1,940 | 0 | ENSG00000171561 | 3_prime_UTR_variant | ENSG00000171561 | 6,789 | ENSG00000284722 | 1,940 | 1,940 | ENSG00000284722 | 3_prime_UTR_variant | NA | NA | |
11 | 75,147,415 | G | A | false | distal | 365 | rs144369461 | 0.000206 | 0.00177 | 5.7832 | intron_variant | dELS_flank | ENSG00000137491 | 3,645 | ENSG00000137491 | 3,654 | 3,645 | ENSG00000137491 | dELS_flank | ENSG00000137491 | 3,645 | ENSG00000137491 | 3,654 | 3,645 | ENSG00000137491 | distal | NA | NA | |
11 | 75,149,547 | C | T | false | distal | 346 | rs2851066 | 0.000277 | 0.18912 | 182.5 | intron_variant | pELS_flank | ENSG00000137491 | 1,513 | ENSG00000137491 | 1,522 | 1,513 | ENSG00000137491 | pELS_flank | ENSG00000137491 | 1,513 | ENSG00000137491 | 1,522 | 1,513 | ENSG00000137491 | distal | NA | NA | |
11 | 75,312,259 | G | A | false | tss_proximal | 391 | rs56117769 | 0.001305 | 0.058316 | 32.917 | intron_variant | dELS | ENSG00000137486 | 5,549 | ENSG00000137486 | 103 | 103 | ENSG00000137486 | tss_proximal | ENSG00000137486 | 5,549 | ENSG00000137486 | 103 | 103 | ENSG00000137486 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
11 | 75,327,158 | T | C | false | distal | 361 | rs61895988 | 0.001118 | 0.38821 | 79.343 | intron_variant | dELS_flank | ENSG00000137486 | 20,448 | ENSG00000199090 | 7,933 | 7,933 | ENSG00000199090 | dELS_flank | ENSG00000137486 | 20,448 | ENSG00000199090 | 8,027 | 8,027 | ENSG00000199090 | distal | NA | NA | |
11 | 75,327,164 | C | T | false | distal | 361 | rs7123393 | 0.001107 | 0.38823 | 79.343 | intron_variant | dELS_flank | ENSG00000137486 | 20,454 | ENSG00000199090 | 7,927 | 7,927 | ENSG00000199090 | dELS_flank | ENSG00000137486 | 20,454 | ENSG00000199090 | 8,021 | 8,021 | ENSG00000199090 | distal | NA | NA | |
11 | 75,327,165 | A | G | false | distal | 361 | rs7108631 | 0.001118 | 0.38821 | 79.343 | intron_variant | dELS_flank | ENSG00000137486 | 20,455 | ENSG00000199090 | 7,926 | 7,926 | ENSG00000199090 | dELS_flank | ENSG00000137486 | 20,455 | ENSG00000199090 | 8,020 | 8,020 | ENSG00000199090 | distal | NA | NA | |
11 | 75,368,848 | G | C | false | distal | 338 | rs144385608 | 0.000114 | 0.034659 | 17.147 | intergenic_variant | dELS | ENSG00000137486 | 17,142 | ENSG00000137486 | 17,187 | 17,142 | ENSG00000137486 | dELS | ENSG00000137486 | 17,142 | ENSG00000137486 | 17,187 | 17,142 | ENSG00000137486 | distal | NA | NA | |
11 | 75,458,179 | C | A | false | tss_proximal | 375 | rs1793411 | 0.007642 | 0.33824 | 132.68 | intron_variant | CA-CTCF | ENSG00000158555 | 392 | ENSG00000158555 | 392 | 392 | ENSG00000158555 | tss_proximal | ENSG00000158555 | 5,847 | ENSG00000158555 | 392 | 392 | ENSG00000158555 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
11 | 75,471,642 | T | C | false | distal | 322 | rs1793414 | 0.004543 | 0.2712 | 135.75 | intron_variant | dELS | ENSG00000158555 | 5,976 | ENSG00000158555 | 5,976 | 5,976 | ENSG00000158555 | dELS | ENSG00000158555 | 6,208 | ENSG00000158555 | 7,674 | 6,208 | ENSG00000158555 | distal | NA | NA | |
11 | 75,496,262 | A | G | false | distal | 330 | rs56386896 | 0.000464 | 0.067559 | 67.945 | intron_variant | dELS | ENSG00000158555 | 5,510 | ENSG00000158555 | 3,778 | 3,778 | ENSG00000158555 | dELS | ENSG00000158555 | 5,510 | ENSG00000254460 | 12,128 | 5,510 | ENSG00000158555 | distal | NA | NA | |
11 | 75,563,642 | C | A | false | 5_prime_UTR_variant | 281 | rs589374 | 0.00236 | 0.43708 | 88.601 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000149257 | 0 | ENSG00000149257 | 84 | 0 | ENSG00000149257 | 5_prime_UTR_variant | ENSG00000149257 | 219 | ENSG00000149257 | 1,424 | 219 | ENSG00000149257 | 5_prime_UTR_variant | NA | NA | |
11 | 75,587,423 | A | C | false | missense_variant | 308 | rs61895095 | 0.002077 | 0.041492 | 82.28 | missense_variant | missense_variant | ENSG00000171533 | 0 | ENSG00000171533 | 566 | 0 | ENSG00000171533 | missense_variant | ENSG00000149257 | 19,640 | ENSG00000255326 | 4,226 | 4,226 | ENSG00000255326 | missense_variant | NA | NA | |
11 | 76,140,770 | G | T | false | missense_variant | 299 | rs77892162 | 0.000078 | 0.004781 | 12.178 | missense_variant | missense_variant | ENSG00000198382 | 0 | ENSG00000198382 | 0 | 0 | ENSG00000198382 | missense_variant | ENSG00000085741 | 65,731 | ENSG00000255421 | 3,038 | 3,038 | ENSG00000255421 | missense_variant | NA | NA | |
11 | 76,382,355 | C | G | false | missense_variant | 300 | rs145744648 | 0.000253 | 0.000211 | 5.7345 | missense_variant | missense_variant | ENSG00000179240 | 0 | ENSG00000179240 | 0 | 0 | ENSG00000179240 | missense_variant | ENSG00000179240 | 525 | ENSG00000179240 | 429 | 429 | ENSG00000179240 | missense_variant | NA | NA | |
11 | 76,411,046 | G | A | false | missense_variant | 295 | rs181484454 | 0.000351 | 0.003214 | 11.25 | missense_variant | missense_variant | ENSG00000179240 | 0 | ENSG00000179240 | 0 | 0 | ENSG00000179240 | missense_variant | ENSG00000179240 | 29,216 | ENSG00000201756 | 6,793 | 6,793 | ENSG00000201756 | missense_variant | NA | NA | |
11 | 76,450,783 | A | T | false | distal | 366 | rs7123914 | 0.00007 | 0.02608 | 77.755 | intron_variant | dELS_flank | ENSG00000158636 | 1,074 | ENSG00000158636 | 1,074 | 1,074 | ENSG00000158636 | dELS_flank | ENSG00000158636 | 3,843 | ENSG00000158636 | 5,735 | 3,843 | ENSG00000158636 | distal | NA | NA | |
11 | 76,537,586 | C | T | true | distal | 388 | rs61894547 | 0.934835 | Eosino | 0.051445 | 40.256 | intron_variant | intron_variant | ENSG00000158636 | 208 | ENSG00000158636 | 208 | 208 | ENSG00000158636 | intron_variant | ENSG00000158636 | 4,652 | ENSG00000158636 | 4,464 | 4,464 | ENSG00000158636 | distal | NA | NA |
11 | 76,546,715 | T | C | false | tss_proximal | 380 | rs17134961 | 0.000977 | 0.1604 | 96.997 | intron_variant | CA-CTCF_flank | ENSG00000158636 | 312 | ENSG00000158636 | 1,846 | 312 | ENSG00000158636 | tss_proximal | ENSG00000158636 | 766 | ENSG00000158636 | 4,663 | 766 | ENSG00000158636 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
11 | 76,588,387 | G | A | true | distal | 334 | rs55646091 | 0.99702 | Asthma,DVT | 0.050921 | 37.728 | intergenic_variant | dELS | ENSG00000158636 | 35,355 | ENSG00000254755 | 2,635 | 2,635 | ENSG00000254755 | dELS | ENSG00000158636 | 42,438 | ENSG00000254755 | 2,635 | 2,635 | ENSG00000254755 | distal | NA | NA |
11 | 76,628,620 | C | T | true | distal | 399 | rs10899240 | 0.999995 | DVT,Eosino | 0.24616 | 27.735 | intron_variant | pELS | ENSG00000137507 | 28,903 | ENSG00000255363 | 138 | 138 | ENSG00000255363 | pELS | ENSG00000137507 | 41,379 | ENSG00000255363 | 1,742 | 1,742 | ENSG00000255363 | distal | NA | NA |
11 | 76,646,862 | G | A | false | distal | 370 | rs4945095 | 0.000134 | 0.48427 | 44.4 | intergenic_variant | intergenic_variant | ENSG00000137507 | 10,661 | ENSG00000254810 | 6,734 | 6,734 | ENSG00000254810 | intergenic_variant | ENSG00000137507 | 23,137 | ENSG00000254810 | 9,849 | 9,849 | ENSG00000254810 | distal | NA | NA | |
11 | 76,647,868 | G | A | false | distal | 370 | rs7936603 | 0.000162 | 0.49498 | 39.147 | intergenic_variant | intergenic_variant | ENSG00000137507 | 9,655 | ENSG00000254810 | 5,728 | 5,728 | ENSG00000254810 | intergenic_variant | ENSG00000137507 | 22,131 | ENSG00000254810 | 8,843 | 8,843 | ENSG00000254810 | distal | NA | NA | |
11 | 76,733,959 | C | T | false | distal | 362 | rs190082762 | 0.000355 | 0.030971 | 57.364 | intergenic_variant | dELS_flank | ENSG00000182704 | 48,291 | ENSG00000204529 | 14,157 | 14,157 | ENSG00000204529 | dELS_flank | ENSG00000182704 | 48,291 | ENSG00000204529 | 14,157 | 14,157 | ENSG00000204529 | distal | NA | NA | |
11 | 76,752,896 | A | G | false | distal | 323 | rs1149593 | 0.000279 | 0.24988 | 46.164 | intergenic_variant | dELS | ENSG00000182704 | 29,354 | ENSG00000254632 | 7,019 | 7,019 | ENSG00000254632 | dELS | ENSG00000182704 | 29,354 | ENSG00000254632 | 15,326 | 15,326 | ENSG00000254632 | distal | NA | NA | |
11 | 76,926,607 | G | A | false | missense_variant | 312 | rs4379869 | 0.000544 | 0.2589 | 443.21 | missense_variant | missense_variant | ENSG00000078124 | 0 | ENSG00000078124 | 0 | 0 | ENSG00000078124 | missense_variant | ENSG00000078124 | 65,664 | ENSG00000078124 | 6,527 | 6,527 | ENSG00000078124 | missense_variant | NA | NA | |
11 | 77,081,976 | A | G | false | distal | 357 | rs10160300 | 0.000155 | 0.28281 | 199.91 | intron_variant | dELS_flank | ENSG00000149260 | 2,875 | ENSG00000149260 | 2,875 | 2,875 | ENSG00000149260 | dELS_flank | ENSG00000149260 | 14,982 | ENSG00000149260 | 2,988 | 2,988 | ENSG00000149260 | distal | NA | NA | |
11 | 77,087,958 | T | C | false | missense_variant | 311 | rs7121748 | 0.000114 | 0.04382 | 10.772 | missense_variant | missense_variant | ENSG00000149260 | 0 | ENSG00000149260 | 2,906 | 0 | ENSG00000149260 | missense_variant | ENSG00000254550 | 14,881 | ENSG00000149260 | 2,992 | 2,992 | ENSG00000149260 | missense_variant | NA | NA | |
11 | 77,132,316 | C | T | false | distal | 367 | rs12802850 | 0.000836 | 0.37504 | 51.141 | intron_variant | dELS_flank | ENSG00000137474 | 1,663 | ENSG00000149260 | 6,697 | 1,663 | ENSG00000137474 | dELS_flank | ENSG00000137474 | 4,013 | ENSG00000149260 | 12,908 | 4,013 | ENSG00000137474 | distal | NA | NA | |
11 | 77,174,118 | A | G | false | tss_proximal | 376 | rs180906734 | 0.000186 | 0.018464 | 25.873 | intron_variant | dELS | ENSG00000137474 | 637 | ENSG00000137474 | 1,318 | 637 | ENSG00000137474 | tss_proximal | ENSG00000137474 | 637 | ENSG00000137474 | 1,318 | 637 | ENSG00000137474 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
11 | 77,360,922 | G | A | false | distal | 363 | rs2602473 | 0.000018 | 0.006317 | 106.32 | intron_variant | dELS_flank | ENSG00000149269 | 1,904 | ENSG00000149269 | 1,904 | 1,904 | ENSG00000149269 | dELS_flank | ENSG00000149269 | 11,634 | ENSG00000149269 | 1,968 | 1,968 | ENSG00000149269 | distal | NA | NA | |
11 | 77,469,748 | G | A | false | distal | 365 | rs535230718 | 0.000196 | 0.002171 | 16.65 | intron_variant | dELS_flank | ENSG00000149269 | 3,803 | ENSG00000268635 | 3,622 | 3,622 | ENSG00000268635 | dELS_flank | ENSG00000149269 | 3,986 | ENSG00000268635 | 3,622 | 3,622 | ENSG00000268635 | distal | NA | NA | |
11 | 77,589,500 | A | G | false | non_coding_transcript_exon_variant | 349 | rs7115612 | 0.000095 | 0.2541 | 205.16 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000178301 | 452 | ENSG00000178301 | 0 | 0 | ENSG00000178301 | non_coding_transcript_exon_variant | ENSG00000178301 | 452 | ENSG00000178301 | 108 | 108 | ENSG00000178301 | non_coding_transcript_exon_variant | NA | NA | |
11 | 77,651,922 | A | G | false | distal | 369 | rs7933173 | 0.000002 | 0.000281 | 142.78 | intergenic_variant | intergenic_variant | ENSG00000048649 | 8,086 | ENSG00000074201 | 14,139 | 8,086 | ENSG00000048649 | intergenic_variant | ENSG00000074201 | 14,127 | ENSG00000074201 | 14,139 | 14,127 | ENSG00000074201 | distal | NA | NA | |
11 | 77,651,981 | C | T | false | distal | 369 | rs151320865 | 0.000004 | 0.00009 | 144.91 | intergenic_variant | intergenic_variant | ENSG00000048649 | 8,027 | ENSG00000074201 | 14,198 | 8,027 | ENSG00000048649 | intergenic_variant | ENSG00000074201 | 14,186 | ENSG00000074201 | 14,198 | 14,186 | ENSG00000074201 | distal | NA | NA | |
11 | 77,652,379 | G | A | false | distal | 369 | rs187991966 | 0.000382 | 0.001375 | 12.736 | intergenic_variant | intergenic_variant | ENSG00000048649 | 7,629 | ENSG00000074201 | 14,596 | 7,629 | ENSG00000048649 | intergenic_variant | ENSG00000074201 | 14,584 | ENSG00000074201 | 14,596 | 14,584 | ENSG00000074201 | distal | NA | NA | |
11 | 77,823,398 | G | A | false | distal | 345 | rs7951033 | 0.000137 | 0.24209 | 264.61 | intron_variant | pELS_flank | ENSG00000087884 | 2,156 | ENSG00000087884 | 2,156 | 2,156 | ENSG00000087884 | pELS_flank | ENSG00000087884 | 2,210 | ENSG00000087884 | 2,255 | 2,210 | ENSG00000087884 | distal | NA | NA | |
11 | 77,924,662 | C | A | false | missense_variant | 297 | rs17825319 | 0.000328 | 0.074213 | 78.951 | missense_variant | missense_variant | ENSG00000149262 | 0 | ENSG00000149262 | 0 | 0 | ENSG00000149262 | missense_variant | ENSG00000149262 | 56,896 | ENSG00000149262 | 1,294 | 1,294 | ENSG00000149262 | missense_variant | NA | NA | |
11 | 77,982,355 | C | G | false | tss_proximal | 381 | rs12801444 | 0.000782 | 0.40158 | 257.61 | intron_variant | dELS_flank | ENSG00000149262 | 778 | ENSG00000149262 | 778 | 778 | ENSG00000149262 | tss_proximal | ENSG00000149262 | 795 | ENSG00000149262 | 795 | 795 | ENSG00000149262 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
11 | 78,019,315 | A | G | false | distal | 389 | rs191969679 | 0.000042 | 0.007655 | 74.307 | intron_variant | intron_variant | ENSG00000259112 | 2,044 | ENSG00000254829 | 2,819 | 2,044 | ENSG00000259112 | intron_variant | ENSG00000151364 | 3,960 | ENSG00000254829 | 3,599 | 3,599 | ENSG00000254829 | distal | NA | NA | |
11 | 78,104,013 | A | G | false | missense_variant | 308 | rs17825668 | 0.000034 | 0.037266 | 42.564 | missense_variant | missense_variant | ENSG00000159063 | 0 | ENSG00000159063 | 0 | 0 | ENSG00000159063 | missense_variant | ENSG00000259112 | 24,147 | ENSG00000159063 | 535 | 535 | ENSG00000159063 | missense_variant | NA | NA | |
11 | 78,131,586 | G | A | false | distal | 345 | rs611181 | 0.000065 | 0.23227 | 166.97 | intron_variant | pELS_flank | ENSG00000159063 | 2,334 | ENSG00000252494 | 1,833 | 1,833 | ENSG00000252494 | pELS_flank | ENSG00000159063 | 2,369 | ENSG00000252494 | 1,935 | 1,935 | ENSG00000252494 | distal | NA | NA | |
11 | 78,224,004 | G | C | false | non_coding_transcript_exon_variant | 354 | rs12804858 | 0.000102 | 0.37904 | 113.97 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000033327 | 327 | ENSG00000288538 | 0 | 0 | ENSG00000288538 | non_coding_transcript_exon_variant | ENSG00000118369 | 25,033 | ENSG00000288538 | 188 | 188 | ENSG00000288538 | non_coding_transcript_exon_variant | NA | NA | |
11 | 78,382,643 | C | T | false | distal | 397 | rs4945272 | 0.000021 | 0.12069 | 40.292 | intron_variant | pELS | ENSG00000033327 | 18,539 | ENSG00000288393 | 1,415 | 1,415 | ENSG00000288393 | pELS | ENSG00000033327 | 35,135 | ENSG00000288393 | 1,415 | 1,415 | ENSG00000288393 | distal | NA | NA | |
11 | 78,699,369 | T | C | false | distal | 335 | rs73496525 | 0.000089 | 0.19553 | 88.83 | intron_variant | dELS | ENSG00000149256 | 2,156 | ENSG00000254563 | 49,880 | 2,156 | ENSG00000149256 | dELS | ENSG00000149256 | 2,634 | ENSG00000254563 | 49,880 | 2,634 | ENSG00000149256 | distal | NA | NA | |
11 | 78,700,043 | A | G | false | distal | 335 | rs4280017 | 0.000206 | 0.17921 | 85.17 | intron_variant | dELS | ENSG00000149256 | 1,482 | ENSG00000254563 | 49,206 | 1,482 | ENSG00000149256 | dELS | ENSG00000149256 | 1,960 | ENSG00000254563 | 49,206 | 1,960 | ENSG00000149256 | distal | NA | NA | |
11 | 78,701,449 | T | C | false | tss_proximal | 403 | rs61147769 | 0.000007 | 0.000049 | 174.65 | intron_variant | intron_variant | ENSG00000149256 | 76 | ENSG00000254563 | 47,800 | 76 | ENSG00000149256 | tss_proximal | ENSG00000149256 | 554 | ENSG00000254563 | 47,800 | 554 | ENSG00000149256 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
11 | 78,801,440 | C | T | false | distal | 335 | rs618085 | 0.000046 | 0.20085 | 53.368 | intron_variant | dELS | ENSG00000149256 | 3,851 | ENSG00000254563 | 44,959 | 3,851 | ENSG00000149256 | dELS | ENSG00000149256 | 3,970 | ENSG00000254563 | 52,189 | 3,970 | ENSG00000149256 | distal | NA | NA | |
11 | 78,948,100 | A | T | true | distal | 362 | rs11826937 | 0.973175 | GGT | 0.024005 | 40.413 | intron_variant | dELS_flank | ENSG00000149256 | 44,213 | ENSG00000149256 | 14,042 | 14,042 | ENSG00000149256 | dELS_flank | ENSG00000149256 | 44,213 | ENSG00000149256 | 14,118 | 14,118 | ENSG00000149256 | distal | NA | NA |
11 | 79,097,837 | A | T | false | non_coding_transcript_exon_variant | 348 | rs12808091 | 0.000016 | 0.45121 | 40.55 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000149256 | 27,827 | ENSG00000255345 | 0 | 0 | ENSG00000255345 | non_coding_transcript_exon_variant | ENSG00000149256 | 118,071 | ENSG00000255345 | 4,537 | 4,537 | ENSG00000255345 | non_coding_transcript_exon_variant | NA | NA | |
11 | 79,442,793 | A | T | false | distal | 346 | rs1397727 | 0.000061 | 0.19089 | 73.979 | intergenic_variant | pELS_flank | ENSG00000149256 | 1,762 | ENSG00000149256 | 1,844 | 1,762 | ENSG00000149256 | pELS_flank | ENSG00000149256 | 1,762 | ENSG00000149256 | 1,844 | 1,762 | ENSG00000149256 | distal | NA | NA | |
11 | 79,690,227 | G | A | false | distal | 373 | rs56118860 | 0.000032 | 0.086203 | 83.228 | intergenic_variant | intergenic_variant | ENSG00000149256 | 249,196 | ENSG00000255209 | 77,926 | 77,926 | ENSG00000255209 | intergenic_variant | ENSG00000149256 | 249,196 | ENSG00000255209 | 77,926 | 77,926 | ENSG00000255209 | distal | NA | NA | |
11 | 79,690,318 | C | A | false | distal | 373 | rs55750340 | 0.000031 | 0.086177 | 83.185 | intergenic_variant | intergenic_variant | ENSG00000149256 | 249,287 | ENSG00000255209 | 78,017 | 78,017 | ENSG00000255209 | intergenic_variant | ENSG00000149256 | 249,287 | ENSG00000255209 | 78,017 | 78,017 | ENSG00000255209 | distal | NA | NA | |
11 | 79,690,385 | G | A | false | distal | 373 | rs56013986 | 0.000031 | 0.086189 | 83.226 | intergenic_variant | intergenic_variant | ENSG00000149256 | 249,354 | ENSG00000255209 | 78,084 | 78,084 | ENSG00000255209 | intergenic_variant | ENSG00000149256 | 249,354 | ENSG00000255209 | 78,084 | 78,084 | ENSG00000255209 | distal | NA | NA | |
11 | 79,690,568 | C | T | false | distal | 373 | rs12363915 | 0.000034 | 0.086506 | 83.745 | intergenic_variant | intergenic_variant | ENSG00000149256 | 249,537 | ENSG00000255209 | 78,267 | 78,267 | ENSG00000255209 | intergenic_variant | ENSG00000149256 | 249,537 | ENSG00000255209 | 78,267 | 78,267 | ENSG00000255209 | distal | NA | NA | |
11 | 79,690,842 | G | A | false | distal | 373 | rs12360999 | 0.000032 | 0.086203 | 83.252 | intergenic_variant | intergenic_variant | ENSG00000149256 | 249,811 | ENSG00000255209 | 78,541 | 78,541 | ENSG00000255209 | intergenic_variant | ENSG00000149256 | 249,811 | ENSG00000255209 | 78,541 | 78,541 | ENSG00000255209 | distal | NA | NA | |
11 | 79,696,670 | A | C | false | distal | 373 | rs142083048 | 0.000021 | 0.007688 | 10.911 | intergenic_variant | intergenic_variant | ENSG00000149256 | 255,639 | ENSG00000255209 | 84,369 | 84,369 | ENSG00000255209 | intergenic_variant | ENSG00000149256 | 255,639 | ENSG00000255209 | 84,369 | 84,369 | ENSG00000255209 | distal | NA | NA | |
11 | 79,696,782 | A | G | false | distal | 373 | rs61882726 | 0.000034 | 0.067109 | 33.552 | intergenic_variant | intergenic_variant | ENSG00000149256 | 255,751 | ENSG00000255209 | 84,481 | 84,481 | ENSG00000255209 | intergenic_variant | ENSG00000149256 | 255,751 | ENSG00000255209 | 84,481 | 84,481 | ENSG00000255209 | distal | NA | NA | |
11 | 79,696,918 | G | C | true | distal | 373 | rs12283287 | 0.986585 | GGT | 0.067122 | 20.165 | intergenic_variant | intergenic_variant | ENSG00000149256 | 255,887 | ENSG00000255209 | 84,617 | 84,617 | ENSG00000255209 | intergenic_variant | ENSG00000149256 | 255,887 | ENSG00000255209 | 84,617 | 84,617 | ENSG00000255209 | distal | NA | NA |
11 | 79,701,494 | C | T | false | distal | 373 | rs117426775 | 0.000016 | 0.045972 | 59.708 | intergenic_variant | intergenic_variant | ENSG00000149256 | 260,463 | ENSG00000255209 | 89,193 | 89,193 | ENSG00000255209 | intergenic_variant | ENSG00000149256 | 260,463 | ENSG00000255209 | 89,193 | 89,193 | ENSG00000255209 | distal | NA | NA | |
11 | 82,901,800 | C | G | false | 5_prime_UTR_variant | 281 | rs3763814 | 0.000004 | 0.44445 | 229.87 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000165490 | 0 | ENSG00000165490 | 0 | 0 | ENSG00000165490 | 5_prime_UTR_variant | ENSG00000165490 | 57 | ENSG00000165490 | 63 | 57 | ENSG00000165490 | 5_prime_UTR_variant | NA | NA | |
11 | 82,933,862 | G | A | false | missense_variant | 314 | rs7130899 | 0.000003 | 0.49616 | 233.51 | missense_variant | missense_variant | ENSG00000165490 | 0 | ENSG00000165490 | 1,905 | 0 | ENSG00000165490 | missense_variant | ENSG00000165490 | 19,172 | ENSG00000165490 | 11,247 | 11,247 | ENSG00000165490 | missense_variant | NA | NA | |
11 | 83,133,430 | C | A | false | distal | 399 | rs144500628 | 0.000003 | 0.23529 | 87.956 | intron_variant | pELS | ENSG00000165494 | 23,557 | ENSG00000255051 | 793 | 793 | ENSG00000255051 | pELS | ENSG00000165494 | 23,557 | ENSG00000255051 | 1,373 | 1,373 | ENSG00000255051 | distal | NA | NA | |
11 | 83,184,784 | A | G | false | missense_variant | 306 | rs118001085 | 0.000007 | 0.03278 | 72.895 | missense_variant | missense_variant | ENSG00000165494 | 0 | ENSG00000247137 | 0 | 0 | ENSG00000165494 | missense_variant | ENSG00000137494 | 8,927 | ENSG00000269939 | 2,251 | 2,251 | ENSG00000269939 | missense_variant | NA | NA | |
11 | 83,261,813 | T | C | false | 3_prime_UTR_variant | 392 | rs28930683 | 0.000004 | 0.025152 | 53.54 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000137500 | 0 | ENSG00000137500 | 0 | 0 | ENSG00000137500 | 3_prime_UTR_variant | ENSG00000137500 | 17,016 | ENSG00000137500 | 5,658 | 5,658 | ENSG00000137500 | 3_prime_UTR_variant | NA | NA | |
11 | 83,261,962 | C | T | false | missense_variant | 298 | rs8789 | 0.000003 | 0.4088 | 249.94 | missense_variant | missense_variant | ENSG00000137500 | 0 | ENSG00000137500 | 0 | 0 | ENSG00000137500 | missense_variant | ENSG00000137500 | 16,867 | ENSG00000137500 | 5,509 | 5,509 | ENSG00000137500 | missense_variant | NA | NA | |
11 | 83,274,763 | C | A | false | missense_variant | 307 | rs115690042 | 0.000003 | 0.000023 | 12.787 | missense_variant | missense_variant | ENSG00000137500 | 22 | ENSG00000137500 | 0 | 0 | ENSG00000137500 | missense_variant | ENSG00000137500 | 4,066 | ENSG00000137500 | 7,290 | 4,066 | ENSG00000137500 | missense_variant | NA | NA | |
11 | 83,326,467 | G | A | false | distal | 334 | rs77756822 | 0.000006 | 0.04416 | 144.65 | intron_variant | dELS | ENSG00000137500 | 40,076 | ENSG00000255003 | 2,458 | 2,458 | ENSG00000255003 | dELS | ENSG00000137500 | 40,076 | ENSG00000255003 | 2,458 | 2,458 | ENSG00000255003 | distal | NA | NA | |
11 | 83,326,470 | A | G | false | distal | 334 | rs78648964 | 0.000007 | 0.04502 | 145.44 | intron_variant | dELS | ENSG00000137500 | 40,079 | ENSG00000255003 | 2,455 | 2,455 | ENSG00000255003 | dELS | ENSG00000137500 | 40,079 | ENSG00000255003 | 2,455 | 2,455 | ENSG00000255003 | distal | NA | NA | |
11 | 83,815,181 | T | A | false | non_coding_transcript_exon_variant | 348 | rs1914203 | 0.0009 | 0.45181 | 143.55 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000150672 | 18,432 | ENSG00000250257 | 0 | 0 | ENSG00000250257 | non_coding_transcript_exon_variant | ENSG00000150672 | 89,777 | ENSG00000250257 | 81 | 81 | ENSG00000250257 | non_coding_transcript_exon_variant | NA | NA | |
11 | 83,815,475 | A | G | false | tss_proximal | 390 | rs1155448 | 0.002222 | 0.40483 | 189.52 | intron_variant | pELS_flank | ENSG00000150672 | 18,138 | ENSG00000250257 | 211 | 211 | ENSG00000250257 | tss_proximal | ENSG00000150672 | 90,071 | ENSG00000250257 | 211 | 211 | ENSG00000250257 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
11 | 84,147,298 | T | C | false | distal | 360 | rs182605240 | 0.000042 | 0.001039 | 13.248 | intron_variant | dELS_flank | ENSG00000150672 | 16,162 | ENSG00000150672 | 16,162 | 16,162 | ENSG00000150672 | dELS_flank | ENSG00000150672 | 19,705 | ENSG00000150672 | 19,703 | 19,703 | ENSG00000150672 | distal | NA | NA |
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