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 | 248,239,713 | C | A | false | missense_variant | 91 | rs41303133 | 0.000016 | 0.007929 | 11.087 | missense_variant | missense_variant | ENSG00000171180 | 0 | ENSG00000177233 | 116,830 | 0 | ENSG00000171180 | missense_variant | ENSG00000171180 | 8,295 | ENSG00000177233 | 117,780 | 8,295 | ENSG00000171180 | missense_variant | NA | NA | |
1 | 248,323,709 | G | A | false | missense_variant | 91 | rs367828278 | 0.000019 | 0.000131 | 1.4965 | missense_variant | missense_variant | ENSG00000177186 | 0 | ENSG00000227152 | 112,649 | 0 | ENSG00000177186 | missense_variant | ENSG00000177186 | 858 | ENSG00000227152 | 112,649 | 858 | ENSG00000177186 | missense_variant | NA | NA | |
1 | 248,323,743 | C | G | false | missense_variant | 91 | rs369361802 | 0.000017 | 0.000291 | 4.0821 | missense_variant | missense_variant | ENSG00000177186 | 0 | ENSG00000227152 | 112,615 | 0 | ENSG00000177186 | missense_variant | ENSG00000177186 | 824 | ENSG00000227152 | 112,615 | 824 | ENSG00000177186 | missense_variant | NA | NA | |
1 | 248,323,756 | G | C | false | missense_variant | 91 | rs114086448 | 0.000033 | 0.000071 | 122.67 | missense_variant | missense_variant | ENSG00000177186 | 0 | ENSG00000227152 | 112,602 | 0 | ENSG00000177186 | missense_variant | ENSG00000177186 | 811 | ENSG00000227152 | 112,602 | 811 | ENSG00000177186 | missense_variant | NA | NA | |
1 | 248,323,866 | G | A | false | missense_variant | 91 | rs55956377 | 0.000158 | 0.001108 | 7.121 | missense_variant | missense_variant | ENSG00000177186 | 0 | ENSG00000227152 | 112,492 | 0 | ENSG00000177186 | missense_variant | ENSG00000177186 | 701 | ENSG00000227152 | 112,492 | 701 | ENSG00000177186 | missense_variant | NA | NA | |
1 | 248,324,399 | G | A | false | missense_variant | 91 | rs41304036 | 0.000016 | 0.017246 | 24.254 | missense_variant | missense_variant | ENSG00000177186 | 0 | ENSG00000227152 | 111,959 | 0 | ENSG00000177186 | missense_variant | ENSG00000177186 | 168 | ENSG00000227152 | 111,959 | 168 | ENSG00000177186 | missense_variant | NA | NA | |
1 | 248,387,675 | T | G | false | missense_variant | 115 | rs6587467 | 0.000021 | 0.30555 | 410.87 | missense_variant | missense_variant | ENSG00000198104 | 0 | ENSG00000227152 | 48,683 | 0 | ENSG00000198104 | missense_variant | ENSG00000198104 | 11,928 | ENSG00000227152 | 48,683 | 11,928 | ENSG00000198104 | missense_variant | NA | NA | |
1 | 248,655,490 | G | A | false | 5_prime_UTR_variant | 126 | rs150434942 | 0.000083 | 0.12261 | 293.3 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000187701 | 0 | ENSG00000229703 | 36,269 | 0 | ENSG00000187701 | 5_prime_UTR_variant | ENSG00000187701 | 37 | ENSG00000229703 | 36,269 | 37 | ENSG00000187701 | 5_prime_UTR_variant | NA | NA | |
1 | 248,842,161 | G | A | false | distal | 55 | rs4578256 | 0.000049 | 0.14176 | 102.56 | intron_variant | dELS | ENSG00000171161 | 2,321 | ENSG00000171161 | 561 | 561 | ENSG00000171161 | dELS | ENSG00000171161 | 3,006 | ENSG00000171161 | 3,070 | 3,006 | ENSG00000171161 | distal | NA | NA | |
1 | 248,897,507 | G | A | true | distal | 25 | rs4335411 | 0.99965 | AG,Benign_Neoplasms,Lym,Mono,NAP,Plt | 0.23861 | 42.14 | intergenic_variant | dELS_flank | ENSG00000185220 | 8,688 | ENSG00000185220 | 8,864 | 8,688 | ENSG00000185220 | dELS_flank | ENSG00000185220 | 8,688 | ENSG00000185220 | 8,864 | 8,688 | ENSG00000185220 | distal | NA | NA |
11 | 196,944 | C | T | true | 5_prime_UTR_variant | 278 | rs11604127 | 0.98208 | Plt | 0.23218 | 95.866 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000177947 | 0 | ENSG00000177947 | 0 | 0 | ENSG00000177947 | 5_prime_UTR_variant | ENSG00000177947 | 8 | ENSG00000177947 | 148 | 8 | ENSG00000177947 | 5_prime_UTR_variant | NA | NA |
11 | 197,337 | G | A | true | synonymous_variant | 285 | rs3802984 | 0.9274 | Plt | 0.23106 | 58.065 | synonymous_variant | synonymous_variant | ENSG00000177947 | 0 | ENSG00000177947 | 0 | 0 | ENSG00000177947 | synonymous_variant | ENSG00000177947 | 383 | ENSG00000177947 | 541 | 383 | ENSG00000177947 | synonymous_variant | NA | NA |
11 | 197,557 | A | G | false | splicing | 405 | rs7103852 | 0.009998 | 0.07455 | 58.929 | splice_region_variant | splice_region_variant | ENSG00000177947 | 3 | ENSG00000177947 | 3 | 3 | ENSG00000177947 | splice_region_variant | ENSG00000177947 | 603 | ENSG00000177947 | 761 | 603 | ENSG00000177947 | splicing | NA | splicing:b0 | |
11 | 208,235 | G | A | false | 5_prime_UTR_variant | 278 | rs11606393 | 0.000818 | 0.22733 | 101.26 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000177963 | 0 | ENSG00000177963 | 564 | 0 | ENSG00000177963 | 5_prime_UTR_variant | ENSG00000177963 | 294 | ENSG00000177963 | 564 | 294 | ENSG00000177963 | 5_prime_UTR_variant | NA | NA | |
11 | 223,823 | G | A | false | synonymous_variant | 286 | rs149395025 | 0.000196 | 0.034413 | 41.379 | synonymous_variant | synonymous_variant | ENSG00000142082 | 254 | ENSG00000142082 | 0 | 0 | ENSG00000142082 | synonymous_variant | ENSG00000142082 | 9,859 | ENSG00000142082 | 6,868 | 6,868 | ENSG00000142082 | synonymous_variant | NA | NA | |
11 | 237,312 | T | C | false | tss_proximal | 378 | rs3817629 | 0.007357 | 0.24304 | 111.91 | intron_variant | pELS | ENSG00000185627 | 167 | ENSG00000185627 | 167 | 167 | ENSG00000185627 | tss_proximal | ENSG00000185627 | 285 | ENSG00000185627 | 273 | 273 | ENSG00000185627 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
11 | 243,557 | G | A | false | tss_proximal | 378 | rs6598064 | 0.004492 | 0.24378 | 112.21 | intron_variant | intron_variant | ENSG00000185627 | 483 | ENSG00000277290 | 73 | 73 | ENSG00000277290 | tss_proximal | ENSG00000185627 | 871 | ENSG00000277290 | 73 | 73 | ENSG00000277290 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
11 | 243,672 | G | A | false | tss_proximal | 378 | rs6598063 | 0.004525 | 0.24378 | 112.21 | intron_variant | intron_variant | ENSG00000185627 | 368 | ENSG00000277290 | 188 | 188 | ENSG00000277290 | tss_proximal | ENSG00000185627 | 756 | ENSG00000277290 | 188 | 188 | ENSG00000277290 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
11 | 243,712 | A | G | false | tss_proximal | 378 | rs6598062 | 0.004536 | 0.24378 | 112.2 | intron_variant | intron_variant | ENSG00000185627 | 328 | ENSG00000277290 | 228 | 228 | ENSG00000277290 | tss_proximal | ENSG00000185627 | 716 | ENSG00000277290 | 228 | 228 | ENSG00000277290 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
11 | 243,853 | G | A | false | tss_proximal | 378 | rs6598061 | 0.004488 | 0.24378 | 112.2 | intron_variant | intron_variant | ENSG00000185627 | 187 | ENSG00000185627 | 187 | 187 | ENSG00000185627 | tss_proximal | ENSG00000185627 | 575 | ENSG00000277290 | 369 | 369 | ENSG00000277290 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
11 | 245,686 | A | G | false | distal | 385 | rs7478850 | 0.002445 | 0.24101 | 110.42 | intron_variant | intron_variant | ENSG00000185627 | 924 | ENSG00000185627 | 924 | 924 | ENSG00000185627 | intron_variant | ENSG00000185627 | 1,256 | ENSG00000277290 | 2,202 | 1,256 | ENSG00000185627 | distal | NA | NA | |
11 | 288,505 | T | C | false | non_coding_transcript_exon_variant | 350 | rs741737 | 0.000876 | 0.26925 | 34.018 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000142102 | 620 | ENSG00000255026 | 0 | 0 | ENSG00000255026 | non_coding_transcript_exon_variant | ENSG00000142102 | 620 | ENSG00000255026 | 418 | 418 | ENSG00000255026 | non_coding_transcript_exon_variant | NA | NA | |
11 | 290,494 | C | T | false | missense_variant | 292 | rs3809110 | 0.000069 | 0.019071 | 19.618 | missense_variant | missense_variant | ENSG00000142102 | 0 | ENSG00000142102 | 0 | 0 | ENSG00000142102 | missense_variant | ENSG00000142102 | 934 | ENSG00000142102 | 573 | 573 | ENSG00000142102 | missense_variant | NA | NA | |
11 | 290,816 | A | G | false | synonymous_variant | 285 | rs10902120 | 0.004814 | 0.23855 | 24.032 | synonymous_variant | synonymous_variant | ENSG00000142102 | 0 | ENSG00000142102 | 0 | 0 | ENSG00000142102 | synonymous_variant | ENSG00000142102 | 1,256 | ENSG00000142102 | 743 | 743 | ENSG00000142102 | synonymous_variant | NA | NA | |
11 | 299,411 | C | G | true | missense_variant | 287 | rs57285449 | 1 | ALP | 0.30381 | 7.1818 | missense_variant | missense_variant | ENSG00000206013 | 0 | ENSG00000142102 | 3,727 | 0 | ENSG00000206013 | missense_variant | ENSG00000206013 | 114 | ENSG00000255533 | 4,732 | 114 | ENSG00000206013 | missense_variant | NA | NA |
11 | 308,065 | T | C | true | 5_prime_UTR_variant | 279 | rs9704108 | 1 | Eosino,Plt | 0.07494 | 15.575 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000185201 | 0 | ENSG00000185201 | 0 | 0 | ENSG00000185201 | 5_prime_UTR_variant | ENSG00000185201 | 40 | ENSG00000185201 | 67 | 40 | ENSG00000185201 | 5_prime_UTR_variant | NA | NA |
11 | 308,314 | T | C | true | missense_variant | 288 | rs14408 | 0.99431 | Neutro,WBC | 0.36636 | 36.226 | missense_variant | missense_variant | ENSG00000185201 | 0 | ENSG00000185201 | 0 | 0 | ENSG00000185201 | missense_variant | ENSG00000185201 | 60 | ENSG00000185201 | 5 | 5 | ENSG00000185201 | missense_variant | NA | NA |
11 | 309,127 | A | G | true | missense_variant | 289 | rs1059091 | 0.99998 | Eosino | 0.31937 | 31.828 | missense_variant | missense_variant | ENSG00000185201 | 0 | ENSG00000185201 | 0 | 0 | ENSG00000185201 | missense_variant | ENSG00000185201 | 113 | ENSG00000185201 | 357 | 113 | ENSG00000185201 | missense_variant | NA | NA |
11 | 327,873 | C | T | false | non_coding_transcript_exon_variant | 353 | rs7936606 | 0.000289 | 0.13161 | 26.481 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000142089 | 335 | ENSG00000255328 | 0 | 0 | ENSG00000255328 | non_coding_transcript_exon_variant | ENSG00000142089 | 335 | ENSG00000142089 | 403 | 335 | ENSG00000142089 | non_coding_transcript_exon_variant | NA | NA | |
11 | 351,053 | A | C | false | distal | 338 | rs11246109 | 0.000298 | 0.036125 | 59.421 | intergenic_variant | dELS | ENSG00000182272 | 18,445 | ENSG00000270972 | 17,364 | 17,364 | ENSG00000270972 | dELS | ENSG00000182272 | 18,445 | ENSG00000270972 | 17,860 | 17,860 | ENSG00000270972 | distal | NA | NA | |
11 | 352,113 | C | T | false | distal | 338 | rs11246112 | 0.000354 | 0.03579 | 59.277 | intergenic_variant | dELS | ENSG00000182272 | 17,385 | ENSG00000182272 | 17,682 | 17,385 | ENSG00000182272 | dELS | ENSG00000182272 | 17,385 | ENSG00000182272 | 17,682 | 17,385 | ENSG00000182272 | distal | NA | NA | |
11 | 353,440 | G | A | false | distal | 337 | rs11246115 | 0.000298 | 0.035787 | 57.605 | intergenic_variant | dELS | ENSG00000182272 | 16,058 | ENSG00000182272 | 16,355 | 16,058 | ENSG00000182272 | dELS | ENSG00000182272 | 16,058 | ENSG00000182272 | 16,355 | 16,058 | ENSG00000182272 | distal | NA | NA | |
11 | 353,543 | G | A | false | distal | 337 | rs11246116 | 0.000279 | 0.03578 | 57.634 | intergenic_variant | dELS | ENSG00000182272 | 15,955 | ENSG00000182272 | 16,252 | 15,955 | ENSG00000182272 | dELS | ENSG00000182272 | 15,955 | ENSG00000182272 | 16,252 | 15,955 | ENSG00000182272 | distal | NA | NA | |
11 | 376,331 | T | A | false | missense_variant | 306 | rs149045708 | 0.000102 | 0.036335 | 53.644 | missense_variant | missense_variant | ENSG00000182272 | 0 | ENSG00000182272 | 222 | 0 | ENSG00000182272 | missense_variant | ENSG00000182272 | 6,831 | ENSG00000182272 | 869 | 869 | ENSG00000182272 | missense_variant | NA | NA | |
11 | 407,954 | G | C | false | missense_variant | 317 | rs111819059 | 0.000081 | 0.007839 | 25.291 | missense_variant | missense_variant | ENSG00000185187 | 0 | ENSG00000185187 | 0 | 0 | ENSG00000185187 | missense_variant | ENSG00000185187 | 818 | ENSG00000185187 | 107 | 107 | ENSG00000185187 | missense_variant | NA | NA | |
11 | 408,174 | G | T | true | missense_variant | 290 | rs117739035 | 0.97791 | Lym | 0.036344 | 23.265 | missense_variant | missense_variant | ENSG00000185187 | 0 | ENSG00000185187 | 0 | 0 | ENSG00000185187 | missense_variant | ENSG00000185187 | 1,038 | ENSG00000185187 | 327 | 327 | ENSG00000185187 | missense_variant | NA | NA |
11 | 419,706 | T | C | false | missense_variant | 290 | rs114405390 | 0.004547 | 0.034081 | 25.177 | missense_variant | missense_variant | ENSG00000185101 | 0 | ENSG00000185101 | 0 | 0 | ENSG00000185101 | missense_variant | ENSG00000185187 | 2,308 | ENSG00000185101 | 290 | 290 | ENSG00000185101 | missense_variant | NA | NA | |
11 | 505,025 | T | A | false | non_coding_transcript_exon_variant | 353 | rs117339389 | 0.000563 | 0.13482 | 218.25 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000023191 | 28 | ENSG00000023191 | 0 | 0 | ENSG00000023191 | non_coding_transcript_exon_variant | ENSG00000023191 | 472 | ENSG00000023191 | 855 | 472 | ENSG00000023191 | non_coding_transcript_exon_variant | NA | NA | |
11 | 536,856 | G | C | false | 5_prime_UTR_variant | 283 | rs7939028 | 0.008614 | 0.20975 | 203.13 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000174775 | 0 | ENSG00000174775 | 0 | 0 | ENSG00000174775 | 5_prime_UTR_variant | ENSG00000174775 | 430 | ENSG00000174775 | 464 | 430 | ENSG00000174775 | 5_prime_UTR_variant | NA | NA | |
11 | 537,031 | G | C | false | 5_prime_UTR_variant | 283 | rs7938775 | 0.008371 | 0.20972 | 203.11 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000174775 | 0 | ENSG00000174775 | 0 | 0 | ENSG00000174775 | 5_prime_UTR_variant | ENSG00000174775 | 255 | ENSG00000174775 | 289 | 255 | ENSG00000174775 | 5_prime_UTR_variant | NA | NA | |
11 | 546,988 | C | T | false | distal | 387 | rs1110056 | 0.000103 | 0.097653 | 78.386 | intron_variant | intron_variant | ENSG00000161328 | 2,207 | ENSG00000185522 | 7,866 | 2,207 | ENSG00000161328 | intron_variant | ENSG00000161328 | 9,460 | ENSG00000185522 | 9,431 | 9,431 | ENSG00000185522 | distal | NA | NA | |
11 | 547,390 | G | A | false | distal | 387 | rs142164066 | 0.0001 | 0.097684 | 78.376 | intron_variant | intron_variant | ENSG00000161328 | 2,511 | ENSG00000185522 | 7,464 | 2,511 | ENSG00000161328 | intron_variant | ENSG00000161328 | 9,862 | ENSG00000185522 | 9,029 | 9,029 | ENSG00000185522 | distal | NA | NA | |
11 | 547,433 | A | C | false | distal | 387 | rs113522180 | 0.000418 | 0.091066 | 179.66 | intron_variant | intron_variant | ENSG00000161328 | 2,468 | ENSG00000185522 | 7,421 | 2,468 | ENSG00000161328 | intron_variant | ENSG00000161328 | 9,905 | ENSG00000185522 | 8,986 | 8,986 | ENSG00000185522 | distal | NA | NA | |
11 | 550,192 | C | A | false | missense_variant | 316 | rs61736743 | 0.000285 | 0.008833 | 68.421 | missense_variant | missense_variant | ENSG00000161328 | 0 | ENSG00000185522 | 4,662 | 0 | ENSG00000161328 | missense_variant | ENSG00000185522 | 9,189 | ENSG00000185522 | 6,227 | 6,227 | ENSG00000185522 | missense_variant | NA | NA | |
11 | 551,204 | C | T | false | missense_variant | 311 | rs118033321 | 0.000066 | 0.037665 | 82.963 | missense_variant | missense_variant | ENSG00000161328 | 0 | ENSG00000185522 | 3,650 | 0 | ENSG00000161328 | missense_variant | ENSG00000185522 | 8,177 | ENSG00000185522 | 5,215 | 5,215 | ENSG00000185522 | missense_variant | NA | NA | |
11 | 578,844 | C | G | false | distal | 345 | rs12421646 | 0.000579 | 0.23423 | 240 | intron_variant | pELS_flank | ENSG00000070047 | 2,251 | ENSG00000070047 | 2,251 | 2,251 | ENSG00000070047 | pELS_flank | ENSG00000070047 | 2,322 | ENSG00000070047 | 2,357 | 2,322 | ENSG00000070047 | distal | NA | NA | |
11 | 587,014 | C | T | false | distal | 326 | rs34265491 | 0.00722 | 0.26831 | 108.74 | intron_variant | dELS | ENSG00000070047 | 244 | ENSG00000070047 | 244 | 244 | ENSG00000070047 | dELS | ENSG00000070047 | 10,492 | ENSG00000070047 | 10,527 | 10,492 | ENSG00000070047 | distal | NA | NA | |
11 | 617,593 | G | C | false | missense_variant | 292 | rs137998609 | 0.000776 | 0.017468 | 47.414 | missense_variant | missense_variant | ENSG00000099834 | 0 | ENSG00000099834 | 0 | 0 | ENSG00000099834 | missense_variant | ENSG00000185507 | 1,622 | ENSG00000185507 | 1,609 | 1,609 | ENSG00000185507 | missense_variant | NA | NA | |
11 | 619,789 | T | G | false | missense_variant | 288 | rs2246614 | 0.00612 | 0.36787 | 232.47 | missense_variant | missense_variant | ENSG00000099834 | 0 | ENSG00000099834 | 0 | 0 | ENSG00000099834 | missense_variant | ENSG00000185507 | 3,818 | ENSG00000099834 | 1,347 | 1,347 | ENSG00000099834 | missense_variant | NA | NA | |
11 | 624,400 | C | T | false | missense_variant | 290 | rs117610069 | 0.000339 | 0.038157 | 56.099 | missense_variant | missense_variant | ENSG00000099834 | 136 | ENSG00000099834 | 0 | 0 | ENSG00000099834 | missense_variant | ENSG00000099834 | 523 | ENSG00000099834 | 531 | 523 | ENSG00000099834 | missense_variant | NA | NA | |
11 | 639,273 | C | A | false | tss_proximal | 374 | rs7124601 | 0.00048 | 0.47775 | 145.07 | intron_variant | pELS | ENSG00000069696 | 159 | ENSG00000069696 | 114 | 114 | ENSG00000069696 | tss_proximal | ENSG00000069696 | 2,003 | ENSG00000069696 | 215 | 215 | ENSG00000069696 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
11 | 702,962 | A | C | false | missense_variant | 305 | rs199996011 | 0.000268 | 0.000074 | 13.899 | missense_variant | missense_variant | ENSG00000177042 | 0 | ENSG00000177042 | 0 | 0 | ENSG00000177042 | missense_variant | ENSG00000177106 | 2,254 | ENSG00000177042 | 44 | 44 | ENSG00000177042 | missense_variant | NA | NA | |
11 | 705,297 | G | C | false | 5_prime_UTR_variant | 281 | rs28364668 | 0.009325 | 0.44371 | 129.35 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000177106 | 0 | ENSG00000177106 | 905 | 0 | ENSG00000177106 | 5_prime_UTR_variant | ENSG00000177106 | 79 | ENSG00000177106 | 905 | 79 | ENSG00000177106 | 5_prime_UTR_variant | NA | NA | |
11 | 707,025 | G | A | false | 5_prime_UTR_variant | 283 | rs76431003 | 0.000056 | 0.20422 | 84.961 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000177030 | 0 | ENSG00000177106 | 223 | 0 | ENSG00000177030 | 5_prime_UTR_variant | ENSG00000177030 | 92 | ENSG00000177030 | 400 | 92 | ENSG00000177030 | 5_prime_UTR_variant | NA | NA | |
11 | 797,834 | C | A | false | missense_variant | 294 | rs112750986 | 0.000788 | 0.068871 | 109.29 | missense_variant | missense_variant | ENSG00000288675 | 0 | ENSG00000177542 | 0 | 0 | ENSG00000288675 | missense_variant | ENSG00000177542 | 160 | ENSG00000177542 | 163 | 160 | ENSG00000177542 | missense_variant | NA | NA | |
11 | 810,113 | G | A | false | 5_prime_UTR_variant | 279 | rs146929030 | 0.000151 | 0.077668 | 32.568 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000177600 | 0 | ENSG00000177600 | 0 | 0 | ENSG00000177600 | 5_prime_UTR_variant | ENSG00000177600 | 128 | ENSG00000177600 | 109 | 109 | ENSG00000177600 | 5_prime_UTR_variant | NA | NA | |
11 | 823,586 | C | G | true | missense_variant | 291 | rs140201358 | 1 | HDLC,WHRadjBMI | 0.014013 | 23.127 | missense_variant | missense_variant | ENSG00000177666 | 0 | ENSG00000177666 | 0 | 0 | ENSG00000177666 | missense_variant | ENSG00000177685 | 2,557 | ENSG00000177666 | 42 | 42 | ENSG00000177666 | missense_variant | NA | NA |
11 | 823,809 | C | G | false | synonymous_variant | 285 | rs1135628 | 0.000592 | 0.23082 | 83.175 | synonymous_variant | synonymous_variant | ENSG00000177666 | 0 | ENSG00000177666 | 0 | 0 | ENSG00000177666 | synonymous_variant | ENSG00000177685 | 2,334 | ENSG00000177666 | 160 | 160 | ENSG00000177666 | synonymous_variant | NA | NA | |
11 | 828,000 | T | A | false | 5_prime_UTR_variant | 282 | rs554806535 | 0.000104 | 0.011895 | 42.094 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000177685 | 0 | ENSG00000177685 | 229 | 0 | ENSG00000177685 | 5_prime_UTR_variant | ENSG00000177685 | 80 | ENSG00000177685 | 466 | 80 | ENSG00000177685 | 5_prime_UTR_variant | NA | NA | |
11 | 891,972 | T | C | false | distal | 342 | rs60267393 | 0.000298 | 0.084095 | 52.79 | intron_variant | dELS | ENSG00000177830 | 1,454 | ENSG00000177830 | 1,454 | 1,454 | ENSG00000177830 | dELS | ENSG00000177830 | 8,722 | ENSG00000177830 | 7,808 | 7,808 | ENSG00000177830 | distal | NA | NA | |
11 | 914,713 | C | T | false | 5_prime_UTR_variant | 284 | rs7479978 | 0.000078 | 0.005029 | 13.903 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000177830 | 0 | ENSG00000177830 | 3,921 | 0 | ENSG00000177830 | 5_prime_UTR_variant | ENSG00000177830 | 60 | ENSG00000177830 | 3,921 | 60 | ENSG00000177830 | 5_prime_UTR_variant | NA | NA | |
11 | 915,027 | C | T | false | 5_prime_UTR_variant | 284 | rs188091123 | 0.000096 | 0.004479 | 9.6778 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000177830 | 0 | ENSG00000177830 | 4,235 | 0 | ENSG00000177830 | 5_prime_UTR_variant | ENSG00000177830 | 30 | ENSG00000177830 | 4,235 | 30 | ENSG00000177830 | 5_prime_UTR_variant | NA | NA | |
11 | 939,696 | C | T | false | distal | 387 | rs11605412 | 0.000169 | 0.090845 | 87.563 | intron_variant | intron_variant | ENSG00000183020 | 1,038 | ENSG00000222561 | 8,724 | 1,038 | ENSG00000183020 | intron_variant | ENSG00000183020 | 1,038 | ENSG00000222561 | 8,724 | 1,038 | ENSG00000183020 | distal | NA | NA | |
11 | 1,009,634 | T | A | false | tss_proximal | 404 | rs12787232 | 0.000286 | 0.024544 | 38.862 | intron_variant | dELS | ENSG00000183020 | 48 | ENSG00000183020 | 19 | 19 | ENSG00000183020 | tss_proximal | ENSG00000183020 | 1,552 | ENSG00000183020 | 349 | 349 | ENSG00000183020 | tss_proximal | tss_prox:b2 | tss_prox:b0 | |
11 | 1,242,004 | A | G | false | synonymous_variant | 286 | rs56117556 | 0.000166 | 0.032921 | 94.48 | synonymous_variant | synonymous_variant | ENSG00000117983 | 0 | ENSG00000255177 | 256 | 0 | ENSG00000117983 | synonymous_variant | ENSG00000117983 | 15,621 | ENSG00000255177 | 7,671 | 7,671 | ENSG00000255177 | synonymous_variant | NA | NA | |
11 | 1,242,928 | T | C | false | synonymous_variant | 286 | rs575117127 | 0.000293 | 0.033257 | 288.85 | synonymous_variant | synonymous_variant | ENSG00000117983 | 0 | ENSG00000255177 | 289 | 0 | ENSG00000117983 | synonymous_variant | ENSG00000117983 | 14,697 | ENSG00000255177 | 6,747 | 6,747 | ENSG00000255177 | synonymous_variant | NA | NA | |
11 | 1,242,970 | T | C | false | synonymous_variant | 286 | rs199592046 | 0.000255 | 0.032908 | 286.95 | synonymous_variant | synonymous_variant | ENSG00000117983 | 0 | ENSG00000255177 | 331 | 0 | ENSG00000117983 | synonymous_variant | ENSG00000117983 | 14,655 | ENSG00000255177 | 6,705 | 6,705 | ENSG00000255177 | synonymous_variant | NA | NA | |
11 | 1,245,890 | G | A | false | missense_variant | 311 | rs116870693 | 0.000224 | 0.033321 | 288.02 | missense_variant | missense_variant | ENSG00000117983 | 0 | ENSG00000255177 | 3,251 | 0 | ENSG00000117983 | missense_variant | ENSG00000117983 | 11,735 | ENSG00000255177 | 3,785 | 3,785 | ENSG00000255177 | missense_variant | NA | NA | |
11 | 1,246,059 | A | C | false | missense_variant | 311 | rs184565965 | 0.00059 | 0.032908 | 286.3 | missense_variant | missense_variant | ENSG00000117983 | 0 | ENSG00000255177 | 3,420 | 0 | ENSG00000117983 | missense_variant | ENSG00000117983 | 11,566 | ENSG00000255177 | 3,616 | 3,616 | ENSG00000255177 | missense_variant | NA | NA | |
11 | 1,246,245 | T | C | false | missense_variant | 311 | rs58125533 | 0.000282 | 0.036298 | 262.25 | missense_variant | missense_variant | ENSG00000117983 | 0 | ENSG00000255177 | 3,375 | 0 | ENSG00000117983 | missense_variant | ENSG00000117983 | 11,380 | ENSG00000255177 | 3,430 | 3,430 | ENSG00000255177 | missense_variant | NA | NA | |
11 | 1,246,272 | C | T | false | missense_variant | 310 | rs141653894 | 0.000098 | 0.056401 | 98.841 | missense_variant | missense_variant | ENSG00000117983 | 0 | ENSG00000255177 | 3,348 | 0 | ENSG00000117983 | missense_variant | ENSG00000117983 | 11,353 | ENSG00000255177 | 3,403 | 3,403 | ENSG00000255177 | missense_variant | NA | NA | |
11 | 1,246,332 | C | T | false | missense_variant | 287 | rs60268710 | 0.000249 | 0.31097 | 146.77 | missense_variant | missense_variant | ENSG00000117983 | 0 | ENSG00000255177 | 3,288 | 0 | ENSG00000117983 | missense_variant | ENSG00000117983 | 11,293 | ENSG00000255177 | 3,343 | 3,343 | ENSG00000255177 | missense_variant | NA | NA | |
11 | 1,246,742 | A | G | false | missense_variant | 311 | rs75101148 | 0.001012 | 0.050415 | 35.57 | missense_variant | missense_variant | ENSG00000117983 | 0 | ENSG00000255177 | 2,878 | 0 | ENSG00000117983 | missense_variant | ENSG00000117983 | 10,883 | ENSG00000255177 | 2,933 | 2,933 | ENSG00000255177 | missense_variant | NA | NA | |
11 | 1,300,366 | G | A | false | distal | 341 | rs5743915 | 0.005879 | 0.42247 | 105.11 | intron_variant | dELS | ENSG00000078902 | 2,217 | ENSG00000078902 | 1,801 | 1,801 | ENSG00000078902 | dELS | ENSG00000078902 | 2,423 | ENSG00000078902 | 5,827 | 2,423 | ENSG00000078902 | distal | NA | NA | |
11 | 1,338,880 | G | A | false | distal | 398 | rs72846402 | 0.000566 | 0.17694 | 94.39 | intergenic_variant | pELS | ENSG00000078902 | 29,225 | ENSG00000287935 | 1,811 | 1,811 | ENSG00000287935 | pELS | ENSG00000078902 | 29,225 | ENSG00000287935 | 1,811 | 1,811 | ENSG00000287935 | distal | NA | NA | |
11 | 1,351,781 | C | T | false | distal | 398 | rs12787736 | 0.000248 | 0.15879 | 70.599 | intron_variant | pELS | ENSG00000174672 | 38,117 | ENSG00000285985 | 1,018 | 1,018 | ENSG00000285985 | pELS | ENSG00000174672 | 38,117 | ENSG00000285985 | 1,421 | 1,421 | ENSG00000285985 | distal | NA | NA | |
11 | 1,351,798 | G | C | false | distal | 398 | rs111441270 | 0.000489 | 0.17415 | 93.518 | intron_variant | pELS | ENSG00000174672 | 38,100 | ENSG00000285985 | 1,035 | 1,035 | ENSG00000285985 | pELS | ENSG00000174672 | 38,100 | ENSG00000285985 | 1,438 | 1,438 | ENSG00000285985 | distal | NA | NA | |
11 | 1,397,647 | A | C | false | distal | 322 | rs11822087 | 0.005568 | 0.25795 | 117.37 | intron_variant | dELS | ENSG00000174672 | 7,271 | ENSG00000174672 | 7,271 | 7,271 | ENSG00000174672 | dELS | ENSG00000174672 | 7,361 | ENSG00000174672 | 7,745 | 7,361 | ENSG00000174672 | distal | NA | NA | |
11 | 1,531,388 | C | T | false | distal | 344 | rs140145600 | 0.000629 | 0.002183 | 22.165 | intergenic_variant | dELS | ENSG00000184545 | 22,662 | ENSG00000184545 | 26,134 | 22,662 | ENSG00000184545 | dELS | ENSG00000184545 | 34,547 | ENSG00000184545 | 28,054 | 28,054 | ENSG00000184545 | distal | NA | NA | |
11 | 1,643,216 | C | T | false | distal | 319 | rs34311908 | 0.001129 | 0.017491 | 29.443 | intergenic_variant | dELS | ENSG00000185940 | 12,285 | ENSG00000231487 | 19,367 | 12,285 | ENSG00000185940 | dELS | ENSG00000185940 | 13,440 | ENSG00000231487 | 20,126 | 13,440 | ENSG00000185940 | distal | NA | NA | |
11 | 1,739,326 | G | T | false | distal | 402 | rs7938305 | 0.00238 | 0.25464 | 99.55 | intron_variant | CA-TF | ENSG00000250644 | 3,896 | ENSG00000244242 | 3,896 | 3,896 | ENSG00000250644 | CA-TF | ENSG00000244242 | 11,268 | ENSG00000244242 | 9,775 | 9,775 | ENSG00000244242 | distal | NA | NA | |
11 | 1,750,567 | T | C | false | 5_prime_UTR_variant | 278 | rs3740621 | 0.000788 | 0.23776 | 103.67 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000244242 | 0 | ENSG00000244242 | 0 | 0 | ENSG00000244242 | 5_prime_UTR_variant | ENSG00000244242 | 27 | ENSG00000244242 | 12 | 12 | ENSG00000244242 | 5_prime_UTR_variant | NA | NA | |
11 | 1,765,022 | A | G | false | tss_proximal | 376 | rs151061511 | 0.000066 | 0.02066 | 15.24 | upstream_gene_variant | PLS_flank | ENSG00000117984 | 448 | ENSG00000117984 | 1,057 | 448 | ENSG00000117984 | tss_proximal | ENSG00000117984 | 448 | ENSG00000117984 | 1,057 | 448 | ENSG00000117984 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
11 | 1,835,114 | C | A | false | missense_variant | 290 | rs57344881 | 0.000094 | 0.035554 | 11.614 | missense_variant | missense_variant | ENSG00000149043 | 0 | ENSG00000149043 | 0 | 0 | ENSG00000149043 | missense_variant | ENSG00000149043 | 123 | ENSG00000149043 | 7 | 7 | ENSG00000149043 | missense_variant | NA | NA | |
11 | 1,852,991 | C | T | true | 5_prime_UTR_variant | 280 | rs907612 | 0.99991 | Mono | 0.3798 | 39.137 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000130592 | 0 | ENSG00000264493 | 6,472 | 0 | ENSG00000130592 | 5_prime_UTR_variant | ENSG00000130592 | 92 | ENSG00000264493 | 6,544 | 92 | ENSG00000130592 | 5_prime_UTR_variant | NA | NA |
11 | 1,870,054 | T | A | false | tss_proximal | 355 | rs688601 | 0.001903 | 0.45798 | 50.129 | intron_variant | PLS | ENSG00000130592 | 95 | ENSG00000130592 | 1,297 | 95 | ENSG00000130592 | tss_proximal | ENSG00000130592 | 95 | ENSG00000130592 | 1,297 | 95 | ENSG00000130592 | tss_proximal | tss_prox:b0 | tss_prox:b0 | |
11 | 1,962,278 | C | T | false | missense_variant | 316 | rs117979807 | 0.000061 | 0.008533 | 11.451 | missense_variant | missense_variant | ENSG00000214026 | 0 | ENSG00000214026 | 5,668 | 0 | ENSG00000214026 | missense_variant | ENSG00000214026 | 14,933 | ENSG00000214026 | 6,700 | 6,700 | ENSG00000214026 | missense_variant | NA | NA | |
11 | 2,144,346 | G | A | true | distal | 318 | rs35506085 | 0.99897 | Height | 0.18271 | 60.271 | intron_variant | dELS | ENSG00000129965 | 2,279 | ENSG00000099869 | 1,898 | 1,898 | ENSG00000099869 | dELS | ENSG00000167244 | 3,107 | ENSG00000099869 | 3,701 | 3,107 | ENSG00000167244 | distal | NA | NA |
11 | 2,156,139 | C | T | true | distal | 345 | rs11564725 | 0.95052 | HbA1c | 0.23563 | 63.955 | intron_variant | pELS_flank | ENSG00000167244 | 2,127 | ENSG00000167244 | 2,127 | 2,127 | ENSG00000167244 | pELS_flank | ENSG00000167244 | 2,251 | ENSG00000167244 | 2,196 | 2,196 | ENSG00000167244 | distal | NA | NA |
11 | 2,169,721 | C | T | false | missense_variant | 288 | rs6356 | 0.007604 | 0.36015 | 51.27 | missense_variant | missense_variant | ENSG00000180176 | 0 | ENSG00000180176 | 25 | 0 | ENSG00000180176 | missense_variant | ENSG00000180176 | 1,614 | ENSG00000180176 | 994 | 994 | ENSG00000180176 | missense_variant | NA | NA | |
11 | 2,300,463 | T | A | false | distal | 401 | rs79719714 | 0.000079 | 0.010878 | 27.32 | intron_variant | pELS | ENSG00000110665 | 56 | ENSG00000110665 | 220 | 56 | ENSG00000110665 | pELS | ENSG00000110665 | 1,449 | ENSG00000110665 | 1,408 | 1,408 | ENSG00000110665 | distal | NA | NA | |
11 | 2,301,792 | C | T | false | missense_variant | 288 | rs12276847 | 0.000274 | 0.36207 | 56.95 | missense_variant | missense_variant | ENSG00000110665 | 0 | ENSG00000110665 | 0 | 0 | ENSG00000110665 | missense_variant | ENSG00000110665 | 120 | ENSG00000110665 | 79 | 79 | ENSG00000110665 | missense_variant | NA | NA | |
11 | 2,301,799 | T | C | false | missense_variant | 294 | rs756924 | 0.006218 | 0.06809 | 95.075 | missense_variant | missense_variant | ENSG00000110665 | 0 | ENSG00000110665 | 0 | 0 | ENSG00000110665 | missense_variant | ENSG00000110665 | 113 | ENSG00000110665 | 72 | 72 | ENSG00000110665 | missense_variant | NA | NA | |
11 | 2,304,197 | T | C | true | missense_variant | 292 | rs61744929 | 0.99663 | Hb,Mono,Neutro | 0.019341 | 13.73 | missense_variant | missense_variant | ENSG00000064201 | 0 | ENSG00000064201 | 0 | 0 | ENSG00000064201 | missense_variant | ENSG00000064201 | 1,328 | ENSG00000110665 | 1,147 | 1,147 | ENSG00000110665 | missense_variant | NA | NA |
11 | 2,304,478 | C | T | false | distal | 401 | rs145841753 | 0.000105 | 0.012034 | 6.6786 | intron_variant | pELS | ENSG00000064201 | 273 | ENSG00000064201 | 273 | 273 | ENSG00000064201 | pELS | ENSG00000064201 | 1,609 | ENSG00000110665 | 1,428 | 1,428 | ENSG00000110665 | distal | NA | NA | |
11 | 2,385,748 | G | A | false | 5_prime_UTR_variant | 284 | rs74048500 | 0.000207 | 0.00627 | 111.63 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000110651 | 0 | ENSG00000110651 | 4,354 | 0 | ENSG00000110651 | 5_prime_UTR_variant | ENSG00000110651 | 81 | ENSG00000110651 | 4,354 | 81 | ENSG00000110651 | 5_prime_UTR_variant | NA | NA | |
11 | 2,400,164 | T | C | false | tss_proximal | 380 | rs800351 | 0.00091 | 0.14671 | 101.05 | upstream_gene_variant | PLS_flank | ENSG00000184281 | 323 | ENSG00000110651 | 2,767 | 323 | ENSG00000184281 | tss_proximal | ENSG00000184281 | 323 | ENSG00000184281 | 2,936 | 323 | ENSG00000184281 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
11 | 2,662,127 | A | G | false | non_coding_transcript_exon_variant | 348 | rs760419 | 0.000939 | 0.46681 | 17.16 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000053918 | 45 | ENSG00000269821 | 0 | 0 | ENSG00000269821 | non_coding_transcript_exon_variant | ENSG00000053918 | 115,447 | ENSG00000275666 | 10,027 | 10,027 | ENSG00000275666 | non_coding_transcript_exon_variant | NA | NA | |
11 | 2,670,241 | A | G | true | non_coding_transcript_exon_variant | 348 | rs231362 | 0.946385 | Glucose | 0.47659 | 27.094 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000053918 | 8,159 | ENSG00000269821 | 0 | 0 | ENSG00000269821 | non_coding_transcript_exon_variant | ENSG00000053918 | 107,333 | ENSG00000276105 | 3,855 | 3,855 | ENSG00000276105 | non_coding_transcript_exon_variant | NA | NA |
11 | 2,681,283 | C | T | false | non_coding_transcript_exon_variant | 348 | rs231358 | 0.003607 | 0.47675 | 40.452 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000053918 | 19,201 | ENSG00000269821 | 0 | 0 | ENSG00000269821 | non_coding_transcript_exon_variant | ENSG00000053918 | 96,291 | ENSG00000276494 | 6,657 | 6,657 | ENSG00000276494 | non_coding_transcript_exon_variant | NA | NA |
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