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 | 14,433 | G | C | true | non_coding_transcript_exon | -0.938477 | 0.158689 | 0.914 | 0.413 | -0 | null | null |
1 | 14,437 | T | A | true | non_coding_transcript_exon | -1.276855 | 0.109976 | 2.099 | 0.904 | -0 | null | null |
1 | 14,449 | G | C | true | non_coding_transcript_exon | -1.513672 | -0.520002 | -0.229 | -0.064 | -0 | null | null |
1 | 14,450 | C | A | true | non_coding_transcript_exon | -0.340332 | -0.259274 | 0.041 | 1.751 | -0 | null | null |
1 | 14,462 | A | G | true | non_coding_transcript_exon | -1.115234 | -0.310503 | 0.083 | 1.068 | -0 | null | null |
1 | 14,464 | A | T | false | non_coding_transcript_exon | 0.89502 | 0.339809 | 1.705 | -0.992 | -0 | null | null |
1 | 14,468 | G | C | true | non_coding_transcript_exon | -1.560059 | -0.451625 | -1.477 | 0.229 | -0.011 | null | null |
1 | 14,498 | G | T | true | non_coding_transcript_exon | -1.551758 | -0.524255 | -0.831 | 0.725 | -0.001 | null | null |
1 | 14,509 | G | C | true | splice_region | -1.113281 | 0.019124 | 0.708 | 0.106 | -0 | null | null |
1 | 14,517 | T | C | true | splice_region | 0.645508 | -0.015172 | 1.269 | 0.382 | -0 | null | null |
1 | 14,631 | G | C | true | intron | -1.621094 | -0.127983 | 0.32 | 0.137 | -0 | null | null |
1 | 14,731 | G | A | true | intron | -5.209473 | -1.201975 | -1.056 | -1.922 | -0.066 | null | null |
1 | 14,805 | G | A | true | intron | -3.849609 | -1.21821 | -3.73 | -8.127 | -0.943 | null | null |
1 | 14,916 | C | T | true | intron | -1.530762 | 0.059775 | 0.665 | 0.634 | -0 | null | null |
1 | 15,038 | A | C | true | splice_region | -6.900879 | -0.988365 | -3.958 | -1.75 | -1 | null | null |
1 | 15,064 | G | A | true | intron | -1.442383 | -0.039083 | 0.111 | -0.057 | -0.001 | null | null |
1 | 15,150 | C | T | true | intron | -1.005859 | -0.263273 | 0.203 | -0.336 | -0 | null | null |
1 | 15,164 | C | G | true | intron | -1.520508 | -0.247676 | -0.027 | -0.336 | -0.005 | null | null |
1 | 15,174 | T | C | true | intron | -0.919922 | 0.220135 | 1.688 | 0.745 | -0 | null | null |
1 | 15,184 | A | C | true | intron | -1.626953 | -0.304694 | -0.101 | -0.268 | -0.001 | null | null |
1 | 15,211 | T | G | false | intron | -0.74707 | -0.228371 | 0.944 | -0.255 | -0 | null | null |
1 | 15,216 | G | T | true | intron | -1.274414 | 0.023004 | 1.51 | -0.315 | -0 | null | null |
1 | 15,227 | T | G | true | intron | -1.410156 | -0.387156 | -0.222 | -0.255 | -0.001 | null | null |
1 | 15,248 | G | A | true | intron | -0.658203 | 0.206311 | 0.783 | 0.76 | -0 | null | null |
1 | 15,260 | C | T | true | intron | -1.517578 | -0.050352 | 1.2 | 0.29 | -0 | null | null |
1 | 15,369 | C | T | true | intron | -1.287109 | -0.163484 | 0.625 | 0.86 | -0 | null | null |
1 | 15,430 | C | T | true | intron | -1.469727 | 0.115282 | 0.929 | 0.634 | -0 | null | null |
1 | 15,433 | C | T | true | intron | -0.194336 | 0.405548 | 2.678 | 1.231 | -0 | null | null |
1 | 15,458 | G | A | true | intron | -1.39209 | -0.466263 | -0.061 | -2.421 | -0.001 | null | null |
1 | 15,499 | C | A | true | intron | -1.405762 | -0.48216 | -0.202 | -0.548 | -0 | null | null |
1 | 15,560 | A | C | true | intron | -1.617188 | -0.316492 | -0.115 | -0.16 | -0.009 | null | null |
1 | 15,564 | T | A | true | intron | -1.391602 | 0.062487 | 1.194 | -0.019 | -0 | null | null |
1 | 15,627 | T | C | true | intron | -1.461426 | -0.623553 | -0.169 | 1.153 | -0 | null | null |
1 | 15,630 | G | T | true | intron | -1.371094 | -0.167362 | 0.47 | 0.36 | -0 | null | null |
1 | 15,637 | T | A | true | intron | 0.818359 | 0.203292 | 1.711 | 3.176 | -0 | null | null |
1 | 15,639 | G | C | true | intron | -0.041992 | 0.297274 | 0.917 | 0.064 | -0 | null | null |
1 | 15,704 | G | A | true | intron | -0.982422 | -0.040024 | 0.613 | -0.577 | -0 | null | null |
1 | 15,723 | T | C | true | intron | -0.788086 | -0.031211 | 1.299 | -0.337 | -0 | null | null |
1 | 15,727 | C | T | true | intron | -1.274414 | -0.106721 | 0.716 | -0.279 | -0 | null | null |
1 | 15,800 | C | G | true | non_coding_transcript_exon | -6.898438 | -0.94043 | 0.223 | 0.691 | -0.774 | null | null |
1 | 15,817 | G | T | true | non_coding_transcript_exon | -2.402344 | -1.290449 | -3.093 | -0.29 | -1 | null | null |
1 | 15,833 | T | C | true | non_coding_transcript_exon | 1.076416 | -1.476385 | 0.107 | -1.125 | -0.937 | null | null |
1 | 15,837 | T | C | true | non_coding_transcript_exon | -6.388672 | -2.085624 | -4.905 | -2.882 | -1 | null | null |
1 | 15,848 | G | A | true | non_coding_transcript_exon | -3.611328 | -1.727564 | -0.324 | -2.382 | -0.999 | null | null |
1 | 15,866 | G | A | true | non_coding_transcript_exon | -0.929688 | -0.854185 | 0.032 | 5.157 | -0.937 | null | null |
1 | 15,877 | C | T | true | non_coding_transcript_exon | -5.585449 | -1.439368 | -4.893 | -8.844 | -1 | null | null |
1 | 15,886 | T | C | true | non_coding_transcript_exon | -5.456543 | -1.525282 | -4.954 | -4.693 | -1 | null | null |
1 | 15,891 | T | C | true | non_coding_transcript_exon | -7.106934 | -1.803219 | -6.749 | -6.318 | -1 | null | null |
1 | 15,906 | A | T | true | non_coding_transcript_exon | -3.155273 | -1.513158 | -3.699 | -5.828 | -1 | null | null |
1 | 15,920 | T | G | true | non_coding_transcript_exon | -6.771484 | -1.592445 | -3.825 | -2.254 | -1 | null | null |
1 | 15,994 | G | C | true | intron | -2.441895 | -0.877931 | -0.93 | -2.853 | -0.007 | null | null |
1 | 15,995 | G | A | true | intron | -1.962891 | -0.808303 | -0.084 | -2.869 | -0.001 | null | null |
1 | 15,999 | G | T | true | intron | -2.169434 | -0.626212 | -0.39 | -0.634 | -0.007 | null | null |
1 | 16,006 | G | A | true | intron | -0.085938 | -0.324771 | 0.487 | -0.505 | -0 | null | null |
1 | 16,021 | C | T | true | intron | -1.375977 | -0.136009 | 0.34 | 0.096 | -0 | null | null |
1 | 16,035 | G | A | true | intron | -2.705078 | -0.561213 | -2.51 | -0.598 | -0.017 | null | null |
1 | 16,046 | C | T | true | intron | -0.757813 | 0.005836 | 1.99 | -0.388 | -0 | null | null |
1 | 16,050 | C | T | true | intron | -1.319336 | -0.281554 | -0.004 | -0.212 | -0 | null | null |
1 | 16,054 | C | T | true | intron | -1.265625 | 0.23033 | 0.91 | -0.522 | -0 | null | null |
1 | 16,059 | G | A | true | intron | -0.602539 | -0.001285 | 0.139 | -0.113 | -0 | null | null |
1 | 16,080 | G | C | true | intron | -1.313477 | 0.446954 | 1.387 | -0.55 | -0 | null | null |
1 | 16,094 | G | C | true | intron | -1.599609 | -0.219231 | -0.589 | -0.009 | -0.001 | null | null |
1 | 16,107 | G | A | true | intron | -0.862305 | -0.332366 | -0.05 | 2.828 | -0 | null | null |
1 | 16,117 | C | A | true | intron | -1.488281 | -0.428379 | 0.235 | 0.313 | -0 | null | null |
1 | 16,151 | G | A | true | intron | -1.358398 | -0.00954 | 0.787 | 1.485 | -0 | null | null |
1 | 16,153 | G | A | true | intron | -1.180664 | -0.013983 | 0.369 | -0.845 | -0 | null | null |
1 | 16,186 | A | C | true | intron | -3.620987 | -0.835315 | 0.065 | 1.615 | -0.001 | null | null |
1 | 16,191 | G | A | true | intron | -1.687988 | -0.98442 | -0.766 | -2.223 | -0.004 | null | null |
1 | 16,200 | G | C | true | intron | -1.408691 | -0.800643 | 0.334 | -0.822 | -0 | null | null |
1 | 16,216 | A | C | true | intron | -0.849121 | -0.210035 | 1.536 | 0.256 | -0 | null | null |
1 | 16,228 | T | C | true | intron | -1.146484 | -0.657426 | 0.154 | -0.386 | -0 | null | null |
1 | 16,246 | G | C | true | intron | -1.564941 | -0.169927 | -0.358 | -0.039 | -0.001 | null | null |
1 | 16,257 | G | C | false | intron | -0.17627 | 0.475726 | 1.186 | 0.918 | -0 | null | null |
1 | 16,259 | T | C | true | intron | -0.945313 | -0.336301 | 0.186 | -0.101 | -0 | null | null |
1 | 16,266 | C | T | true | intron | -1.289063 | -0.683149 | -1.557 | -0.665 | -0.032 | null | null |
1 | 16,296 | G | T | true | intron | -1.642578 | -0.017254 | 0.024 | -1.562 | -0 | null | null |
1 | 16,300 | C | T | true | intron | -1.191895 | 0.655595 | 4.625 | 4.556 | -0 | null | null |
1 | 16,306 | T | C | true | intron | -1.316406 | -0.183516 | 0.229 | 0.539 | -0 | null | null |
1 | 16,307 | G | A | true | intron | 0.738281 | -0.037259 | -0.099 | -0.03 | -0 | null | null |
1 | 16,309 | A | G | true | intron | -1.012207 | -0.264552 | 0.264 | -1.215 | -0 | null | null |
1 | 16,322 | A | C | true | intron | -1.505859 | -0.021398 | -0.088 | 0.532 | -0 | null | null |
1 | 16,325 | G | A | true | intron | -0.496094 | 0.061432 | 0.26 | 0.708 | -0.001 | null | null |
1 | 16,327 | G | A | true | intron | -1.655273 | -0.297672 | -0.497 | -0.02 | -0.005 | null | null |
1 | 16,350 | C | T | true | intron | 0.987305 | 0.293356 | 1.653 | -0.724 | -0 | null | null |
1 | 16,358 | T | C | true | intron | -1.240234 | 0.086618 | 0.94 | 2.011 | -0 | null | null |
1 | 16,374 | G | C | true | intron | -1.671387 | -0.39255 | -0.625 | -1.367 | -0.001 | null | null |
1 | 16,381 | G | A | true | intron | -1.380371 | -0.720227 | -1.936 | -0.845 | -0.111 | null | null |
1 | 16,383 | A | G | true | intron | 1.200684 | -0.096634 | 0.845 | 0.335 | -0 | null | null |
1 | 16,392 | C | A | true | intron | -1.456543 | -0.483532 | -0.382 | -0.406 | -0.001 | null | null |
1 | 16,395 | C | T | true | intron | -1.485352 | -0.521668 | -0.879 | -1.668 | -0.001 | null | null |
1 | 16,398 | T | G | true | intron | -0.240723 | -0.131074 | 1.07 | 0.442 | -0 | null | null |
1 | 16,404 | A | G | true | intron | -1.890625 | -0.425133 | -0.449 | 1.032 | -0.003 | null | null |
1 | 16,445 | A | G | true | intron | -1.963867 | -0.771688 | -0.768 | 2.951 | -0.006 | null | null |
1 | 16,485 | T | C | true | intron | -3.108398 | -0.889064 | 0.178 | 2.056 | -0.39 | null | null |
1 | 16,487 | T | C | false | intron | -3.698242 | -1.55539 | -0.506 | 1.811 | -0.692 | null | null |
1 | 16,488 | T | A | true | intron | -5.707031 | -1.418566 | -0.505 | 0.268 | -0.758 | null | null |
1 | 16,555 | C | G | true | intron | -0.933594 | 0.439722 | 0.94 | 0.281 | -0 | null | null |
1 | 16,571 | G | A | false | intron | 1.297852 | -0.094158 | 0.256 | 0.375 | -0.012 | null | null |
1 | 16,615 | G | A | true | non_coding_transcript_exon | -4.185272 | -0.945478 | -1.326 | -2.439 | -0.007 | null | null |
1 | 16,627 | C | T | true | non_coding_transcript_exon | -1.843506 | -0.520693 | -0.585 | -1.593 | -0 | null | null |