chrom
stringclasses 2
values | pos
int64 10.2k
249M
| ref
stringclasses 4
values | alt
stringclasses 4
values | AC
int64 1
152k
| AN
int64 2
152k
| AF
float64 0
1
| consequence
stringlengths 9
552
| GPN-MSA
float32 -13.59
11.1
|
|---|---|---|---|---|---|---|---|---|
1 | 13,076 | G | A | 1 | 126,472 | 0.000008 | downstream_gene_variant,intron_variant&non_coding_transcript_variant | -0.282616 |
1 | 13,080 | G | A | 6 | 126,458 | 0.000047 | downstream_gene_variant,intron_variant&non_coding_transcript_variant | -0.379909 |
1 | 13,080 | G | T | 1 | 126,458 | 0.000008 | downstream_gene_variant,intron_variant&non_coding_transcript_variant | -1.081155 |
1 | 13,101 | G | C | 1 | 125,496 | 0.000008 | downstream_gene_variant,intron_variant&non_coding_transcript_variant | -1.662915 |
1 | 13,105 | G | C | 1 | 125,364 | 0.000008 | downstream_gene_variant,intron_variant&non_coding_transcript_variant | -0.315361 |
1 | 13,143 | G | C | 1 | 120,428 | 0.000008 | downstream_gene_variant,intron_variant&non_coding_transcript_variant | -1.569383 |
1 | 13,156 | G | C | 1 | 117,332 | 0.000009 | downstream_gene_variant,intron_variant&non_coding_transcript_variant | -0.785703 |
1 | 13,158 | G | T | 1 | 116,884 | 0.000009 | downstream_gene_variant,intron_variant&non_coding_transcript_variant | -1.43913 |
1 | 13,233 | G | C | 1 | 115,318 | 0.000009 | downstream_gene_variant,non_coding_transcript_exon_variant | -6.283753 |
1 | 13,242 | G | C | 2 | 117,318 | 0.000017 | downstream_gene_variant,non_coding_transcript_exon_variant | -3.404681 |
1 | 13,244 | G | A | 28 | 117,572 | 0.000238 | downstream_gene_variant,non_coding_transcript_exon_variant | -3.236122 |
1 | 13,248 | C | G | 73 | 118,686 | 0.000615 | downstream_gene_variant,non_coding_transcript_exon_variant | -1.65666 |
1 | 13,257 | T | C | 1 | 119,816 | 0.000008 | downstream_gene_variant,non_coding_transcript_exon_variant | -3.224306 |
1 | 13,259 | G | A | 7 | 120,294 | 0.000058 | downstream_gene_variant,non_coding_transcript_exon_variant | -2.600431 |
1 | 13,267 | G | C | 1 | 121,230 | 0.000008 | downstream_gene_variant,non_coding_transcript_exon_variant | -5.698892 |
1 | 13,268 | G | C | 1 | 121,302 | 0.000008 | downstream_gene_variant,non_coding_transcript_exon_variant | -4.865986 |
1 | 13,270 | C | T | 9 | 121,068 | 0.000074 | downstream_gene_variant,non_coding_transcript_exon_variant | -3.098391 |
1 | 13,271 | C | T | 8 | 121,208 | 0.000066 | downstream_gene_variant,non_coding_transcript_exon_variant | -4.216898 |
1 | 13,273 | G | C | 18,928 | 120,690 | 0.156832 | downstream_gene_variant,non_coding_transcript_exon_variant | -4.072508 |
1 | 13,284 | G | A | 18 | 124,308 | 0.000145 | downstream_gene_variant,non_coding_transcript_exon_variant | -0.451389 |
1 | 13,293 | T | C | 4 | 125,696 | 0.000032 | downstream_gene_variant,non_coding_transcript_exon_variant | -2.294964 |
1 | 13,298 | G | C | 3 | 126,034 | 0.000024 | downstream_gene_variant,non_coding_transcript_exon_variant | -3.851629 |
1 | 13,302 | C | T | 1,158 | 121,598 | 0.009523 | downstream_gene_variant,non_coding_transcript_exon_variant | 1.466356 |
1 | 13,303 | G | A | 23 | 126,540 | 0.000182 | downstream_gene_variant,non_coding_transcript_exon_variant | -0.555985 |
1 | 13,304 | C | A | 1 | 126,650 | 0.000008 | downstream_gene_variant,non_coding_transcript_exon_variant | -4.039384 |
1 | 13,305 | T | C | 2 | 126,640 | 0.000016 | downstream_gene_variant,non_coding_transcript_exon_variant | -4.115784 |
1 | 13,306 | G | A | 1 | 126,774 | 0.000008 | downstream_gene_variant,non_coding_transcript_exon_variant | -2.821422 |
1 | 13,309 | G | A | 1 | 126,766 | 0.000008 | downstream_gene_variant,non_coding_transcript_exon_variant | -1.852596 |
1 | 13,313 | T | G | 13 | 126,966 | 0.000102 | downstream_gene_variant,non_coding_transcript_exon_variant | -6.419044 |
1 | 13,315 | G | A | 7 | 126,932 | 0.000055 | downstream_gene_variant,non_coding_transcript_exon_variant | -3.366369 |
1 | 13,315 | G | C | 1 | 126,932 | 0.000008 | downstream_gene_variant,non_coding_transcript_exon_variant | -3.563704 |
1 | 13,322 | G | C | 2 | 127,030 | 0.000016 | downstream_gene_variant,non_coding_transcript_exon_variant | -4.187912 |
1 | 13,323 | C | A | 3 | 127,070 | 0.000024 | downstream_gene_variant,non_coding_transcript_exon_variant | 3.793456 |
1 | 13,324 | C | A | 3 | 127,038 | 0.000024 | downstream_gene_variant,non_coding_transcript_exon_variant | -3.340757 |
1 | 13,326 | T | G | 1 | 127,162 | 0.000008 | downstream_gene_variant,non_coding_transcript_exon_variant | 1.005745 |
1 | 13,329 | T | G | 1 | 127,084 | 0.000008 | downstream_gene_variant,non_coding_transcript_exon_variant | -4.48831 |
1 | 13,335 | T | A | 1 | 126,554 | 0.000008 | downstream_gene_variant,non_coding_transcript_exon_variant | -5.790407 |
1 | 13,340 | G | C | 1 | 126,566 | 0.000008 | downstream_gene_variant,non_coding_transcript_exon_variant | -4.694685 |
1 | 13,341 | C | A | 2 | 126,584 | 0.000016 | downstream_gene_variant,non_coding_transcript_exon_variant | -4.52415 |
1 | 13,344 | C | A | 2 | 126,342 | 0.000016 | downstream_gene_variant,non_coding_transcript_exon_variant | -4.003247 |
1 | 13,358 | A | G | 1 | 125,290 | 0.000008 | downstream_gene_variant,non_coding_transcript_exon_variant | -1.853381 |
1 | 13,359 | T | C | 3 | 125,490 | 0.000024 | downstream_gene_variant,non_coding_transcript_exon_variant | -3.789448 |
1 | 13,361 | G | A | 2 | 125,436 | 0.000016 | downstream_gene_variant,non_coding_transcript_exon_variant | -4.116364 |
1 | 13,367 | G | C | 1 | 125,052 | 0.000008 | downstream_gene_variant,non_coding_transcript_exon_variant | -0.090091 |
1 | 13,370 | T | C | 7 | 124,728 | 0.000056 | downstream_gene_variant,non_coding_transcript_exon_variant | -0.431867 |
1 | 13,372 | G | C | 7 | 124,508 | 0.000056 | downstream_gene_variant,non_coding_transcript_exon_variant,splice_region_variant&non_coding_transcript_exon_variant | -3.689177 |
1 | 13,379 | A | C | 8 | 121,944 | 0.000066 | downstream_gene_variant,non_coding_transcript_exon_variant,splice_region_variant&intron_variant&non_coding_transcript_variant | -7.401862 |
1 | 13,380 | C | G | 1,013 | 123,116 | 0.008228 | downstream_gene_variant,non_coding_transcript_exon_variant,splice_region_variant&intron_variant&non_coding_transcript_variant | 0.374008 |
1 | 13,382 | C | A | 1 | 123,030 | 0.000008 | downstream_gene_variant,non_coding_transcript_exon_variant,splice_region_variant&intron_variant&non_coding_transcript_variant | -4.156961 |
1 | 13,393 | C | G | 25 | 121,396 | 0.000206 | downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant | -1.602325 |
1 | 13,414 | C | T | 14 | 113,144 | 0.000124 | downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant | -1.342119 |
1 | 13,420 | G | A | 3 | 123,746 | 0.000024 | downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant | -1.346048 |
1 | 13,443 | G | C | 2 | 124,250 | 0.000016 | downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant | -1.918862 |
1 | 13,453 | T | C | 36 | 124,002 | 0.00029 | downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant,splice_region_variant&non_coding_transcript_exon_variant | -4.193646 |
1 | 13,461 | G | C | 1 | 124,584 | 0.000008 | downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant | -4.513961 |
1 | 13,472 | C | T | 1 | 125,178 | 0.000008 | downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant | -2.686877 |
1 | 13,480 | C | G | 1 | 125,644 | 0.000008 | downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant | -3.004028 |
1 | 13,487 | C | A | 1 | 126,048 | 0.000008 | downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant | -1.461505 |
1 | 13,489 | G | A | 1 | 126,024 | 0.000008 | downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant | -1.235251 |
1 | 13,494 | A | G | 205 | 125,462 | 0.001634 | downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant | -1.088883 |
1 | 13,503 | C | T | 6 | 126,218 | 0.000048 | downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant | 0.990362 |
1 | 13,504 | G | A | 318 | 124,512 | 0.002554 | downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant | 0.753902 |
1 | 13,528 | C | G | 475 | 128,284 | 0.003703 | downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant | -0.923366 |
1 | 13,532 | G | A | 2 | 130,170 | 0.000015 | downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant | -1.536485 |
1 | 13,543 | T | G | 12 | 132,678 | 0.00009 | downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant | -0.76161 |
1 | 13,550 | G | A | 1,388 | 133,642 | 0.010386 | downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant | -1.446665 |
1 | 13,556 | G | A | 1 | 135,268 | 0.000007 | downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant | -1.445668 |
1 | 13,556 | G | C | 7 | 135,260 | 0.000052 | downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant | -1.593228 |
1 | 13,557 | G | A | 86 | 135,210 | 0.000636 | downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant | -0.793894 |
1 | 13,573 | C | A | 105 | 135,912 | 0.000773 | downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant | -1.461898 |
1 | 13,584 | A | G | 1 | 138,784 | 0.000007 | downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant | -1.28411 |
1 | 13,592 | G | A | 2 | 139,264 | 0.000014 | downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant | -1.286636 |
1 | 13,603 | G | C | 2 | 139,964 | 0.000014 | downstream_gene_variant,non_coding_transcript_exon_variant | -0.990186 |
1 | 13,610 | G | C | 1 | 140,018 | 0.000007 | downstream_gene_variant,non_coding_transcript_exon_variant | -1.047308 |
1 | 13,681 | G | A | 4 | 139,018 | 0.000029 | downstream_gene_variant,non_coding_transcript_exon_variant | -1.127706 |
1 | 13,694 | G | A | 11 | 133,594 | 0.000082 | downstream_gene_variant,non_coding_transcript_exon_variant | 0.020196 |
1 | 13,706 | C | A | 2 | 131,524 | 0.000015 | downstream_gene_variant,non_coding_transcript_exon_variant | -1.505927 |
1 | 13,712 | A | T | 1 | 130,574 | 0.000008 | downstream_gene_variant,non_coding_transcript_exon_variant | -1.293034 |
1 | 13,740 | T | G | 21 | 124,156 | 0.000169 | downstream_gene_variant,non_coding_transcript_exon_variant | -1.383737 |
1 | 13,745 | T | C | 28 | 122,926 | 0.000228 | downstream_gene_variant,non_coding_transcript_exon_variant | -1.225861 |
1 | 13,749 | G | A | 4 | 122,350 | 0.000033 | downstream_gene_variant,non_coding_transcript_exon_variant | -1.428592 |
1 | 13,756 | C | T | 63 | 120,684 | 0.000522 | downstream_gene_variant,non_coding_transcript_exon_variant | 0.658303 |
1 | 13,760 | G | A | 348 | 119,784 | 0.002905 | downstream_gene_variant,non_coding_transcript_exon_variant | 0.625579 |
1 | 13,774 | C | T | 284 | 119,186 | 0.002383 | downstream_gene_variant,non_coding_transcript_exon_variant | -0.931566 |
1 | 13,844 | G | A | 6 | 122,370 | 0.000049 | downstream_gene_variant,non_coding_transcript_exon_variant | -1.538078 |
1 | 13,845 | C | T | 2 | 122,438 | 0.000016 | downstream_gene_variant,non_coding_transcript_exon_variant | -1.534449 |
1 | 13,849 | T | C | 2 | 122,132 | 0.000016 | downstream_gene_variant,non_coding_transcript_exon_variant | -1.474203 |
1 | 13,851 | C | T | 1 | 121,668 | 0.000008 | downstream_gene_variant,non_coding_transcript_exon_variant | -0.593196 |
1 | 13,878 | G | A | 3 | 107,604 | 0.000028 | downstream_gene_variant,non_coding_transcript_exon_variant | -2.166955 |
1 | 13,883 | G | T | 3 | 105,866 | 0.000028 | downstream_gene_variant,non_coding_transcript_exon_variant | -0.304819 |
1 | 13,892 | A | C | 2 | 98,538 | 0.00002 | downstream_gene_variant,non_coding_transcript_exon_variant | -1.502114 |
1 | 13,911 | A | C | 2 | 91,252 | 0.000022 | downstream_gene_variant,non_coding_transcript_exon_variant | -1.61403 |
1 | 13,918 | C | A | 1 | 82,048 | 0.000012 | downstream_gene_variant,non_coding_transcript_exon_variant | -1.485824 |
1 | 13,919 | C | G | 4 | 81,400 | 0.000049 | downstream_gene_variant,non_coding_transcript_exon_variant | -1.51154 |
1 | 13,934 | C | T | 1 | 75,782 | 0.000013 | downstream_gene_variant,non_coding_transcript_exon_variant | -1.388623 |
1 | 13,949 | T | C | 178 | 68,398 | 0.002602 | downstream_gene_variant,non_coding_transcript_exon_variant | -0.997267 |
1 | 13,949 | T | G | 3 | 68,452 | 0.000044 | downstream_gene_variant,non_coding_transcript_exon_variant | -1.45747 |
1 | 13,951 | G | C | 1 | 67,538 | 0.000015 | downstream_gene_variant,non_coding_transcript_exon_variant | -1.199699 |
1 | 13,958 | C | T | 4 | 62,614 | 0.000064 | downstream_gene_variant,non_coding_transcript_exon_variant | -1.291964 |
1 | 13,998 | C | G | 2 | 59,574 | 0.000034 | downstream_gene_variant,non_coding_transcript_exon_variant | -1.970886 |