chrom stringclasses 19
values | pos int64 90.7k 249M | ref stringclasses 4
values | alt stringclasses 4
values | OMIM stringclasses 113
values | consequence stringclasses 12
values | label bool 2
classes | tss_dist int64 0 372k | match_group stringclasses 338
values |
|---|---|---|---|---|---|---|---|---|
3 | 39,149,538 | A | G | null | non_coding_transcript_exon_variant | false | 4,052 | non_coding_transcript_exon_variant_42 |
3 | 39,149,552 | T | C | null | non_coding_transcript_exon_variant | false | 4,038 | non_coding_transcript_exon_variant_43 |
3 | 39,286,185 | C | T | null | non_coding_transcript_exon_variant | false | 4,449 | non_coding_transcript_exon_variant_33 |
3 | 39,286,293 | G | A | null | non_coding_transcript_exon_variant | false | 4,557 | non_coding_transcript_exon_variant_31 |
3 | 39,286,780 | C | G | null | non_coding_transcript_exon_variant | false | 5,044 | non_coding_transcript_exon_variant_35 |
3 | 40,313,822 | G | A | null | non_coding_transcript_exon_variant | false | 4,114 | non_coding_transcript_exon_variant_41 |
3 | 40,314,125 | C | T | null | non_coding_transcript_exon_variant | false | 4,417 | non_coding_transcript_exon_variant_33 |
3 | 40,314,174 | A | G | null | non_coding_transcript_exon_variant | false | 4,466 | non_coding_transcript_exon_variant_33 |
3 | 40,453,199 | T | C | null | non_coding_transcript_exon_variant | false | 4,092 | non_coding_transcript_exon_variant_41 |
3 | 40,453,318 | T | G | null | non_coding_transcript_exon_variant | false | 3,973 | non_coding_transcript_exon_variant_44 |
3 | 41,237,949 | A | G | null | non_coding_transcript_exon_variant | false | 4,527 | non_coding_transcript_exon_variant_31 |
3 | 42,506,725 | G | A | null | non_coding_transcript_exon_variant | false | 4,081 | non_coding_transcript_exon_variant_42 |
3 | 42,770,415 | G | A | null | PLS | false | 2,837 | PLS_48 |
3 | 42,770,527 | T | C | null | PLS | false | 2,725 | PLS_48 |
3 | 44,338,768 | T | C | null | 5_prime_UTR_variant | false | 1 | 5_prime_UTR_variant_87 |
3 | 44,581,209 | C | T | null | PLS | false | 2,985 | PLS_48 |
3 | 44,761,638 | G | A | null | PLS | false | 18 | PLS_46 |
3 | 45,734,772 | A | G | null | non_coding_transcript_exon_variant | false | 4,168 | non_coding_transcript_exon_variant_38 |
3 | 45,735,408 | A | G | null | non_coding_transcript_exon_variant | false | 4,804 | non_coding_transcript_exon_variant_26 |
3 | 45,735,621 | G | A | null | non_coding_transcript_exon_variant | false | 5,017 | non_coding_transcript_exon_variant_30 |
3 | 46,000,921 | A | T | null | non_coding_transcript_exon_variant | false | 5,096 | non_coding_transcript_exon_variant_39 |
3 | 46,023,126 | G | C | null | PLS | false | 4,356 | PLS_47 |
3 | 46,023,134 | C | G | null | PLS | false | 4,348 | PLS_47 |
3 | 46,090,585 | C | T | null | non_coding_transcript_exon_variant | false | 4,759 | non_coding_transcript_exon_variant_27 |
3 | 46,090,789 | C | T | null | non_coding_transcript_exon_variant | false | 4,963 | non_coding_transcript_exon_variant_24 |
3 | 46,090,809 | A | C | null | non_coding_transcript_exon_variant | false | 4,983 | non_coding_transcript_exon_variant_25 |
3 | 46,090,983 | C | T | null | non_coding_transcript_exon_variant | false | 5,157 | non_coding_transcript_exon_variant_43 |
3 | 46,412,503 | T | C | null | non_coding_transcript_exon_variant | false | 4,621 | non_coding_transcript_exon_variant_30 |
3 | 46,412,859 | G | C | null | non_coding_transcript_exon_variant | false | 4,977 | non_coding_transcript_exon_variant_24 |
3 | 46,562,461 | C | T | null | non_coding_transcript_exon_variant | false | 3,840 | non_coding_transcript_exon_variant_48 |
3 | 46,693,690 | G | T | null | 5_prime_UTR_variant | false | 10 | 5_prime_UTR_variant_86 |
3 | 48,301,392 | C | T | null | 5_prime_UTR_variant | false | 1 | 5_prime_UTR_variant_87 |
3 | 48,595,347 | G | A | MIM 226600 | PLS | true | 17 | PLS_46 |
3 | 48,604,538 | A | G | null | non_coding_transcript_exon_variant | false | 5,107 | non_coding_transcript_exon_variant_40 |
3 | 49,128,636 | C | T | null | non_coding_transcript_exon_variant | false | 4,413 | non_coding_transcript_exon_variant_33 |
3 | 49,358,324 | G | A | null | 5_prime_UTR_variant | false | 0 | 5_prime_UTR_variant_87 |
3 | 49,874,594 | C | T | null | non_coding_transcript_exon_variant | false | 4,658 | non_coding_transcript_exon_variant_29 |
3 | 49,899,282 | G | A | null | PLS | false | 3,208 | PLS_47 |
3 | 50,094,258 | G | A | null | non_coding_transcript_exon_variant | false | 3,887 | non_coding_transcript_exon_variant_47 |
3 | 50,298,861 | A | G | null | 5_prime_UTR_variant | false | 1 | 5_prime_UTR_variant_87 |
3 | 50,299,230 | T | C | null | 5_prime_UTR_variant | false | 1 | 5_prime_UTR_variant_87 |
3 | 50,670,456 | T | C | null | non_coding_transcript_exon_variant | false | 4,470 | non_coding_transcript_exon_variant_32 |
3 | 50,670,738 | T | C | null | non_coding_transcript_exon_variant | false | 4,188 | non_coding_transcript_exon_variant_38 |
3 | 52,194,134 | A | T | null | non_coding_transcript_exon_variant | false | 3,951 | non_coding_transcript_exon_variant_45 |
3 | 52,848,428 | A | G | null | non_coding_transcript_exon_variant | false | 4,270 | non_coding_transcript_exon_variant_36 |
3 | 52,848,479 | G | A | null | non_coding_transcript_exon_variant | false | 4,219 | non_coding_transcript_exon_variant_37 |
3 | 53,882,103 | A | G | null | 5_prime_UTR_variant | false | 48 | 5_prime_UTR_variant_85 |
3 | 56,561,125 | T | C | null | non_coding_transcript_exon_variant | false | 3,936 | non_coding_transcript_exon_variant_45 |
3 | 57,297,199 | G | A | null | non_coding_transcript_exon_variant | false | 4,513 | non_coding_transcript_exon_variant_32 |
3 | 58,144,872 | T | C | null | non_coding_transcript_exon_variant | false | 4,993 | non_coding_transcript_exon_variant_29 |
3 | 58,145,788 | C | T | null | non_coding_transcript_exon_variant | false | 4,077 | non_coding_transcript_exon_variant_42 |
3 | 58,428,655 | C | T | null | non_coding_transcript_exon_variant | false | 5,158 | non_coding_transcript_exon_variant_43 |
3 | 58,573,480 | T | G | null | non_coding_transcript_exon_variant | false | 3,907 | non_coding_transcript_exon_variant_46 |
3 | 62,324,026 | G | A | null | non_coding_transcript_exon_variant | false | 4,304 | non_coding_transcript_exon_variant_35 |
3 | 64,014,147 | A | C | null | non_coding_transcript_exon_variant | false | 5,186 | non_coding_transcript_exon_variant_44 |
3 | 64,014,788 | T | C | null | non_coding_transcript_exon_variant | false | 4,545 | non_coding_transcript_exon_variant_31 |
3 | 64,684,729 | A | C | null | PLS | false | 2,949 | PLS_48 |
3 | 69,353,650 | C | T | null | 5_prime_UTR_variant | false | 46 | 5_prime_UTR_variant_85 |
3 | 69,536,183 | A | C | null | non_coding_transcript_exon_variant | false | 5,156 | non_coding_transcript_exon_variant_43 |
3 | 69,536,201 | G | A | null | non_coding_transcript_exon_variant | false | 5,138 | non_coding_transcript_exon_variant_42 |
3 | 69,536,248 | C | T | null | non_coding_transcript_exon_variant | false | 5,091 | non_coding_transcript_exon_variant_39 |
3 | 69,536,402 | C | T | null | non_coding_transcript_exon_variant | false | 4,937 | non_coding_transcript_exon_variant_24 |
3 | 73,556,912 | T | G | null | non_coding_transcript_exon_variant | false | 4,705 | non_coding_transcript_exon_variant_28 |
3 | 75,668,454 | A | C | null | non_coding_transcript_exon_variant | false | 4,123 | non_coding_transcript_exon_variant_40 |
3 | 75,669,098 | C | A | null | non_coding_transcript_exon_variant | false | 4,767 | non_coding_transcript_exon_variant_27 |
3 | 75,669,197 | C | T | null | non_coding_transcript_exon_variant | false | 4,866 | non_coding_transcript_exon_variant_25 |
3 | 75,669,229 | C | T | null | non_coding_transcript_exon_variant | false | 4,898 | non_coding_transcript_exon_variant_25 |
3 | 75,669,368 | G | A | null | non_coding_transcript_exon_variant | false | 5,037 | non_coding_transcript_exon_variant_35 |
3 | 75,669,402 | G | A | null | non_coding_transcript_exon_variant | false | 5,071 | non_coding_transcript_exon_variant_36 |
3 | 75,669,411 | G | A | null | non_coding_transcript_exon_variant | false | 5,080 | non_coding_transcript_exon_variant_36 |
3 | 75,669,462 | G | A | null | non_coding_transcript_exon_variant | false | 5,131 | non_coding_transcript_exon_variant_42 |
3 | 75,669,518 | C | A | null | non_coding_transcript_exon_variant | false | 5,187 | non_coding_transcript_exon_variant_44 |
3 | 75,670,191 | C | T | null | PLS | false | 5,860 | PLS_48 |
3 | 88,343,278 | T | C | null | non_coding_transcript_exon_variant | false | 4,821 | non_coding_transcript_exon_variant_26 |
3 | 98,035,303 | G | A | null | 5_prime_UTR_variant | false | 11 | 5_prime_UTR_variant_86 |
3 | 98,264,273 | A | G | null | 5_prime_UTR_variant | false | 11 | 5_prime_UTR_variant_86 |
3 | 100,709,274 | G | A | null | PLS | false | 20 | PLS_46 |
3 | 101,337,394 | A | C | null | non_coding_transcript_exon_variant | false | 4,124 | non_coding_transcript_exon_variant_40 |
3 | 101,785,780 | A | C | null | non_coding_transcript_exon_variant | false | 4,073 | non_coding_transcript_exon_variant_42 |
3 | 101,785,830 | G | A | null | non_coding_transcript_exon_variant | false | 4,123 | non_coding_transcript_exon_variant_40 |
3 | 101,785,973 | C | T | null | non_coding_transcript_exon_variant | false | 4,266 | non_coding_transcript_exon_variant_37 |
3 | 101,786,624 | A | G | null | non_coding_transcript_exon_variant | false | 4,917 | non_coding_transcript_exon_variant_25 |
3 | 101,786,663 | T | C | null | non_coding_transcript_exon_variant | false | 4,956 | non_coding_transcript_exon_variant_24 |
3 | 107,382,074 | C | G | null | non_coding_transcript_exon_variant | false | 4,634 | non_coding_transcript_exon_variant_30 |
3 | 108,054,148 | T | A | null | non_coding_transcript_exon_variant | false | 4,212 | non_coding_transcript_exon_variant_38 |
3 | 108,218,439 | A | G | null | non_coding_transcript_exon_variant | false | 3,935 | non_coding_transcript_exon_variant_45 |
3 | 108,218,513 | C | T | null | non_coding_transcript_exon_variant | false | 3,861 | non_coding_transcript_exon_variant_48 |
3 | 109,332,133 | T | C | null | non_coding_transcript_exon_variant | false | 4,297 | non_coding_transcript_exon_variant_36 |
3 | 111,859,277 | C | T | null | 5_prime_UTR_variant | false | 11 | 5_prime_UTR_variant_86 |
3 | 112,128,837 | G | A | null | non_coding_transcript_exon_variant | false | 4,387 | non_coding_transcript_exon_variant_34 |
3 | 112,129,138 | A | G | null | non_coding_transcript_exon_variant | false | 4,086 | non_coding_transcript_exon_variant_41 |
3 | 112,327,619 | G | A | null | non_coding_transcript_exon_variant | false | 4,727 | non_coding_transcript_exon_variant_28 |
3 | 112,641,192 | T | C | null | 5_prime_UTR_variant | false | 48 | 5_prime_UTR_variant_85 |
3 | 113,746,012 | A | G | null | 5_prime_UTR_variant | false | 46 | 5_prime_UTR_variant_85 |
3 | 114,077,938 | C | T | null | non_coding_transcript_exon_variant | false | 4,830 | non_coding_transcript_exon_variant_26 |
3 | 119,146,150 | A | G | null | PLS | false | 14 | PLS_46 |
3 | 119,298,535 | A | T | null | PLS | false | 4,151 | PLS_47 |
3 | 119,298,851 | A | G | null | non_coding_transcript_exon_variant | false | 4,467 | non_coding_transcript_exon_variant_32 |
3 | 119,463,684 | T | C | null | PLS | false | 18 | PLS_46 |
3 | 119,703,087 | A | G | null | 5_prime_UTR_variant | false | 10 | 5_prime_UTR_variant_86 |
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