chrom
large_stringlengths 1
2
| pos
int64 10.1k
249M
| ref
large_stringlengths 1
1
| alt
large_stringlengths 1
1
| label
bool 2
classes | consequence
large_stringlengths 6
26
| GPN-MSA
float32 -13.98
12.6
⌀ | CADD
float32 -21.01
18.7
| phyloP-100v
float64 -10
20
⌀ | phyloP-241m
float64 -9.28
20
⌀ | phastCons-100v
float64 -1
-0
⌀ | ESM-1b
float64 -25.92
12
⌀ | SpliceAI
float32 -1
-0
⌀ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 16,670 | T | C | true | non_coding_transcript_exon | -1.047852 | -0.203051 | 0.673 | 0.341 | -0 | null | null |
1 | 16,677 | T | A | true | non_coding_transcript_exon | -3.385742 | -1.239442 | 0.126 | 3.59 | -0.92 | null | null |
1 | 16,679 | G | A | true | non_coding_transcript_exon | -4.663818 | -1.547589 | -4.025 | -0.247 | -1 | null | null |
1 | 16,688 | G | A | false | non_coding_transcript_exon | -4.023926 | -1.448712 | -3.121 | -1.305 | -0.996 | null | null |
1 | 16,710 | A | G | true | non_coding_transcript_exon | -3.009277 | -1.792106 | 0.018 | 1.045 | -0.983 | null | null |
1 | 16,717 | G | A | true | non_coding_transcript_exon | -5.866943 | -1.655147 | -5.784 | -8.439 | -1 | null | null |
1 | 16,785 | G | T | true | intron | -1.426758 | -0.436284 | -0.408 | -0.273 | -0 | null | null |
1 | 16,786 | T | G | true | intron | -1.802734 | -0.551555 | 0.295 | 1.614 | -0 | null | null |
1 | 16,804 | T | C | true | intron | -0.034668 | -0.393837 | -0.039 | 0.296 | -0 | null | null |
1 | 16,807 | G | C | true | intron | -1.089844 | 0.382253 | 0.339 | 0.65 | -0 | null | null |
1 | 16,859 | T | C | true | splice_region | -2.191406 | -1.107851 | -0.938 | -1.771 | -0.991 | null | null |
1 | 16,962 | C | G | true | non_coding_transcript_exon | -5.75293 | -1.080176 | -5.087 | -8.889 | -1 | null | null |
1 | 16,978 | C | T | true | non_coding_transcript_exon | -4.120361 | -1.205766 | -0.395 | -3.005 | -0.996 | null | null |
1 | 16,986 | G | A | true | non_coding_transcript_exon | -5.661621 | -1.490787 | -8.318 | -5.828 | -1 | null | null |
1 | 17,038 | G | C | true | non_coding_transcript_exon | -6.517578 | -1.927057 | -3.039 | -4.8 | -1 | null | null |
1 | 17,065 | T | C | true | splice_region | -1.475586 | -0.809864 | -0.29 | 3.832 | -0 | null | null |
1 | 17,077 | T | A | true | intron | -1.439941 | 0.189032 | 2.626 | 1.792 | -0 | null | null |
1 | 17,082 | G | C | true | intron | -1.562012 | -0.526678 | -0.059 | 0.068 | -0.002 | null | null |
1 | 17,103 | G | A | true | intron | -0.802734 | -0.101113 | 0.239 | -0.111 | -0 | null | null |
1 | 17,112 | C | T | true | intron | -0.496094 | 0.090058 | 1.045 | 0.258 | -0 | null | null |
1 | 17,127 | A | G | true | intron | -1.306641 | -0.42104 | 0.26 | -0.842 | -0 | null | null |
1 | 17,151 | C | A | true | intron | -2.013184 | -0.468158 | -0.646 | -1.263 | -0.006 | null | null |
1 | 17,158 | G | A | true | intron | -1.432617 | -0.395904 | 0.117 | -0.062 | -0 | null | null |
1 | 17,168 | G | T | true | intron | -1.435547 | -0.441179 | -0.092 | -0.859 | -0 | null | null |
1 | 17,201 | A | T | true | intron | -1.021484 | 0.441759 | 2.646 | 3.48 | -0 | null | null |
1 | 17,207 | C | T | true | intron | -1.68457 | -0.088935 | 0.232 | 0.891 | -0 | null | null |
1 | 17,210 | C | G | true | intron | -1.703125 | -0.123688 | 0.148 | 0.445 | -0 | null | null |
1 | 17,215 | C | G | true | intron | -1.639648 | -0.274028 | -0.037 | 0.112 | -0 | null | null |
1 | 17,228 | C | T | true | splice_region | -2.548828 | -0.252667 | 0.352 | 3.035 | -0 | null | null |
1 | 17,229 | C | G | true | splice_region | -5.862305 | -0.643725 | -1.13 | -0.666 | -0.039 | null | null |
1 | 17,234 | T | A | true | splice_region | -6.576172 | -1.556128 | -3.847 | -4.154 | -1 | null | null |
1 | 17,243 | A | C | true | non_coding_transcript_exon | -8.078125 | -1.971954 | -6.643 | -6.223 | -1 | null | null |
1 | 17,250 | C | T | true | non_coding_transcript_exon | -5.759766 | -1.834043 | -5.301 | -8.746 | -1 | null | null |
1 | 17,251 | T | C | true | non_coding_transcript_exon | -2.460938 | -1.589886 | -0.049 | 1.115 | -0.979 | null | null |
1 | 17,292 | C | A | true | non_coding_transcript_exon | -8.416016 | -1.804983 | -5.022 | -5.782 | -1 | null | null |
1 | 17,300 | G | A | true | non_coding_transcript_exon | -5.265137 | -1.252157 | -3.941 | -3.217 | -1 | null | null |
1 | 17,301 | C | T | true | non_coding_transcript_exon | -3.527344 | -0.781485 | -1.032 | -0.01 | -1 | null | null |
1 | 17,305 | C | T | true | non_coding_transcript_exon | -3.624023 | -1.5947 | -0.374 | -4.144 | -0.997 | null | null |
1 | 17,307 | G | A | true | non_coding_transcript_exon | -4.425781 | -1.326056 | -2.917 | -4.093 | -1 | null | null |
1 | 17,316 | G | T | true | non_coding_transcript_exon | -7.05957 | -1.483076 | -5.773 | -6.839 | -1 | null | null |
1 | 17,328 | C | T | true | non_coding_transcript_exon | -5.109375 | -1.456168 | -4.103 | -0.824 | -1 | null | null |
1 | 17,340 | G | C | true | non_coding_transcript_exon | -5.678223 | -1.499433 | -4.18 | -1.043 | -1 | null | null |
1 | 17,350 | G | A | true | non_coding_transcript_exon | -3.636719 | -1.857887 | -2.67 | -4.129 | -1 | null | null |
1 | 17,352 | A | G | true | non_coding_transcript_exon | -5.650513 | -2.05613 | -3.542 | -3.734 | -1 | null | null |
1 | 17,360 | T | G | true | non_coding_transcript_exon | -5.595215 | -1.897368 | -7.097 | -4.694 | -1 | null | null |
1 | 17,386 | G | A | true | mature_miRNA | 0.802734 | 0.129945 | 0.876 | -0.037 | -0 | null | null |
1 | 17,387 | G | T | true | mature_miRNA | -1.603516 | -0.465402 | -0.525 | -0.452 | -0.003 | null | null |
1 | 17,388 | G | A | true | mature_miRNA | -1.490234 | -0.39816 | -0.277 | 0.101 | -0.001 | null | null |
1 | 17,401 | A | T | true | non_coding_transcript_exon | 0.677734 | -0.123677 | 2.625 | 2.988 | -0 | null | null |
1 | 17,427 | C | A | true | mature_miRNA | -1.069336 | -0.401947 | -0.069 | 0.946 | -0 | null | null |
1 | 17,445 | G | A | true | intron | -1.448242 | -0.638958 | -0.641 | -0.92 | -0.005 | null | null |
1 | 17,458 | C | T | true | intron | -1.490723 | 0.20941 | 1.312 | 0.279 | -0 | null | null |
1 | 17,468 | C | A | true | intron | -1.64209 | -0.546137 | -0.025 | -1.678 | -0 | null | null |
1 | 17,474 | C | G | true | intron | -1.575684 | -0.60425 | -0.214 | -1.048 | -0 | null | null |
1 | 17,481 | G | A | true | intron | -1.646484 | -0.479794 | -0.291 | -2.612 | -0.023 | null | null |
1 | 17,486 | G | C | true | intron | -0.914063 | 0.109481 | 0.498 | 0.474 | -0 | null | null |
1 | 17,490 | C | A | true | intron | -0.477539 | -0.021702 | 0.626 | -0.144 | -0 | null | null |
1 | 17,494 | T | G | true | intron | -1.453125 | -0.49738 | -0.306 | -0.098 | -0 | null | null |
1 | 17,501 | C | T | true | intron | -2.053711 | -0.733369 | -0.913 | 0.15 | -0.001 | null | null |
1 | 17,543 | G | A | true | intron | -1.912109 | 0.234239 | 1.503 | -1.014 | -0 | null | null |
1 | 17,544 | G | C | true | intron | -1.488281 | 0.46608 | 2.776 | 0.19 | -0 | null | null |
1 | 17,555 | G | A | true | intron | -1.893555 | -0.58302 | -0.057 | -1.172 | -0 | null | null |
1 | 17,584 | C | T | true | intron | 0.068359 | 0.460983 | 3.127 | -0 | -0 | null | null |
1 | 17,599 | G | A | true | splice_region | -4.186035 | -1.260647 | -3.609 | -1.888 | -0.404 | null | null |
1 | 17,603 | T | C | true | splice_region | -2.050781 | -1.428842 | -1.013 | -1.836 | -0.791 | null | null |
1 | 17,605 | C | A | true | splice_region | -8.797852 | -3.324656 | -5.377 | -8.833 | -1 | null | null |
1 | 17,617 | G | A | true | non_coding_transcript_exon | -3.253906 | -1.757139 | -0.781 | -1.248 | -1 | null | null |
1 | 17,622 | T | G | true | non_coding_transcript_exon | -7.338867 | -2.178935 | -4.385 | -6.314 | -1 | null | null |
1 | 17,633 | A | T | true | non_coding_transcript_exon | -9.792969 | -2.017181 | -6.281 | -6.309 | -1 | null | null |
1 | 17,648 | C | G | true | non_coding_transcript_exon | -5.264648 | -1.364307 | -0.595 | -1.442 | -0.999 | null | null |
1 | 17,691 | C | T | true | non_coding_transcript_exon | -5.461914 | -1.176459 | -5.366 | -8.857 | -1 | null | null |
1 | 17,697 | G | C | false | non_coding_transcript_exon | -4.734192 | -1.043489 | -2.491 | -8.751 | -1 | null | null |
1 | 17,707 | G | A | true | non_coding_transcript_exon | -3.470703 | -1.112529 | -0.007 | -2.95 | -0.967 | null | null |
1 | 17,723 | G | A | true | non_coding_transcript_exon | -6.046082 | -1.589724 | -6.897 | -8.751 | -1 | null | null |
1 | 17,756 | G | A | true | splice_region | -1.557129 | 0.221198 | 0.76 | 0.438 | -0 | null | null |
1 | 17,759 | G | A | true | splice_region | -1.675781 | -0.392599 | -0.346 | -0.084 | -0.001 | null | null |
1 | 17,764 | A | G | true | intron | -1.390625 | -0.352138 | 0.169 | 0.698 | -0 | null | null |
1 | 17,772 | T | C | true | intron | -1.212891 | -0.482721 | 0.6 | 1.214 | -0 | null | null |
1 | 17,784 | G | A | true | intron | -1.460938 | 0.357461 | 1.868 | 2.166 | -0 | null | null |
1 | 17,818 | A | C | true | intron | -1.763672 | -0.665576 | -0.214 | 0.328 | -0.002 | null | null |
1 | 17,838 | A | C | true | intron | -1.480469 | -0.094937 | 0.546 | 0.441 | -0 | null | null |
1 | 17,869 | T | G | true | intron | -0.59082 | 0.357342 | 2.106 | 1.097 | -0 | null | null |
1 | 17,885 | T | A | true | intron | -2.157715 | -0.785064 | -0.462 | 0.167 | -0.044 | null | null |
1 | 17,894 | C | G | true | intron | -0.414063 | -0.173497 | 1.06 | 0.797 | -0 | null | null |
1 | 17,903 | C | T | true | intron | 1.453125 | -0.498045 | 0.126 | -0.163 | -0 | null | null |
1 | 17,912 | G | A | true | splice_region | -3.542969 | -0.150588 | 0.21 | -0.039 | -0.58 | null | null |
1 | 19,202 | C | G | true | intron | -1.942383 | -0.247436 | 0.494 | -0.127 | -0.001 | null | null |
1 | 19,235 | G | A | true | intron | -0.035156 | -0.249569 | -0.141 | -1.103 | -0 | null | null |
1 | 19,243 | C | T | true | intron | 1.202148 | -0.096425 | 0.179 | 1.141 | -0 | null | null |
1 | 19,245 | C | A | true | intron | -1.550293 | -0.398952 | -0.385 | -0.423 | -0.002 | null | null |
1 | 19,331 | T | G | true | intron | -0.990234 | -0.419447 | 0.235 | 0.363 | -0 | null | null |
1 | 19,536 | C | G | true | intron | -1.540039 | -0.29466 | 0.154 | -1.26 | -0 | null | null |
1 | 19,560 | A | T | true | intron | -0.400391 | 0.344025 | 0.849 | 1.349 | -0 | null | null |
1 | 19,576 | A | G | true | intron | -3.975952 | -0.573662 | -0.739 | -0.927 | -0.024 | null | null |
1 | 19,583 | A | G | false | intron | 1.579102 | -0.723681 | -0.833 | -0.641 | -0.003 | null | null |
1 | 19,600 | A | T | true | intron | 1.293945 | 0.29467 | 1.771 | 1.208 | -0 | null | null |
1 | 19,664 | G | T | true | intron | -1.474609 | 0.511009 | 1.545 | -0.17 | -0 | null | null |
1 | 19,941 | C | T | true | intron | -0.001953 | -0.145054 | 0.585 | 1.855 | -0 | null | null |
1 | 20,083 | G | C | true | intron | -3.386475 | -0.254663 | -0.294 | -0.692 | -0.017 | null | null |
1 | 20,150 | A | G | true | intron | -1.492188 | -0.050628 | 0.516 | 0.159 | -0 | null | null |