chrom
stringclasses 24
values | pos
int64 47.1k
249M
| id
stringlengths 1
7
| ref
stringclasses 4
values | alt
stringclasses 4
values | clin_sig
stringclasses 2
values | review_status
stringclasses 5
values | consequence
stringlengths 8
106
| CADD
float64 -17.55
2.86
| phyloP
float64 -10
20
⌀ | phastCons
float64 -1
-0
⌀ |
|---|---|---|---|---|---|---|---|---|---|---|
1 | 1,041,583 | 128291 | A | G | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | 1.129235 | 1.898 | -0 |
1 | 1,041,823 | 677945 | G | C | Benign | criteria_provided,_single_submitter | intron_variant | 0.185751 | 2.56 | -0 |
1 | 1,041,950 | 128292 | T | C | Benign | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant | 0.144509 | 0.844 | -0 |
1 | 1,042,053 | 644955 | C | G | Pathogenic | criteria_provided,_single_submitter | nonsense | -7.611756 | -3.617 | -1 |
1 | 1,042,101 | 1180647 | G | A | Pathogenic | criteria_provided,_single_submitter | nonsense | -7.828379 | -3.414 | -1 |
1 | 1,042,190 | 263159 | G | A | Benign | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant | 0.415592 | 1.726 | -0 |
1 | 1,042,400 | 677947 | C | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant | 0.505021 | 1.885 | -0 |
1 | 1,043,197 | 1284256 | G | C | Pathogenic | no_assertion_criteria_provided | intron_variant | -0.320406 | -0.192 | -0 |
1 | 1,043,288 | 263162 | G | A | Benign | criteria_provided,_multiple_submitters,_no_conflicts | synonymous_variant | 0.437929 | 2.666 | -0 |
1 | 1,043,354 | 704483 | T | C | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.327148 | 5.277 | -0 |
1 | 1,043,839 | 705174 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.118413 | 5.012 | -0 |
1 | 1,044,057 | 1275154 | C | T | Benign | criteria_provided,_single_submitter | intron_variant | 0.185556 | 1.989 | -0 |
1 | 1,044,111 | 1076092 | G | T | Pathogenic | criteria_provided,_single_submitter | nonsense | -9.022103 | -6.623 | -1 |
1 | 1,044,310 | 1277315 | G | A | Benign | criteria_provided,_single_submitter | intron_variant | -0.066399 | 0.048 | -0 |
1 | 1,044,368 | 128294 | A | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -4.190468 | -5.452 | -1 |
1 | 1,044,455 | 263168 | G | A | Benign | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant | 0.097802 | 0.288 | -0 |
1 | 1,044,510 | 1279648 | C | T | Benign | criteria_provided,_single_submitter | intron_variant | 0.539579 | 2.714 | -0 |
1 | 1,044,697 | 1249270 | C | T | Benign | criteria_provided,_single_submitter | intron_variant | 0.779956 | 2.962 | -0 |
1 | 1,044,896 | 1287573 | C | T | Benign | criteria_provided,_single_submitter | intron_variant | 0.598756 | 1.737 | -0 |
1 | 1,045,080 | 677948 | G | A | Benign | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant | -0.687543 | -2.376 | -0.033 |
1 | 1,045,288 | 1571016 | G | A | Benign | criteria_provided,_single_submitter | intron_variant | 0.239259 | 1.388 | -0 |
1 | 1,045,487 | 950399 | C | T | Pathogenic | criteria_provided,_single_submitter | nonsense | -9.006037 | -5.673 | -1 |
1 | 1,045,495 | 474105 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.054862 | 1.199 | -0.003 |
1 | 1,045,707 | 263172 | A | G | Benign | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant | -0.016525 | 0.863 | -0 |
1 | 1,045,719 | 1543103 | G | A | Benign | criteria_provided,_single_submitter | intron_variant | 0.444781 | 1.065 | -0 |
1 | 1,045,751 | 263173 | A | G | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | 0.143737 | 0.151 | -0 |
1 | 1,046,524 | 474112 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.331069 | 1.495 | -0 |
1 | 1,046,551 | 128297 | A | G | Benign | criteria_provided,_multiple_submitters,_no_conflicts | synonymous_variant | 0.508771 | 1.032 | -0 |
1 | 1,046,845 | 474115 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.014604 | 0.885 | -0 |
1 | 1,047,064 | 677950 | A | G | Benign | criteria_provided,_single_submitter | intron_variant | -0.589022 | -1.118 | -0.001 |
1 | 1,047,082 | 677951 | T | C | Benign | criteria_provided,_single_submitter | intron_variant | 1.06886 | 4.563 | -0 |
1 | 1,047,102 | 1232750 | C | T | Benign | criteria_provided,_single_submitter | intron_variant | 0.273636 | 0.291 | -0 |
1 | 1,047,104 | 1260286 | C | T | Benign | criteria_provided,_single_submitter | intron_variant | -0.058251 | 0.749 | -0 |
1 | 1,047,133 | 677952 | T | C | Benign | criteria_provided,_single_submitter | intron_variant | -0.881505 | 0.052 | -0 |
1 | 1,047,193 | 1178567 | C | T | Benign | criteria_provided,_single_submitter | intron_variant | -1.17505 | -0.114 | -0 |
1 | 1,047,342 | 128299 | A | G | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -3.744859 | -2.004 | -1 |
1 | 1,047,403 | 128300 | T | C | Benign | criteria_provided,_multiple_submitters,_no_conflicts | synonymous_variant | 0.212178 | 5.04 | -0 |
1 | 1,047,464 | 128301 | G | C | Benign | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant | -0.295763 | -0.388 | -0.002 |
1 | 1,047,468 | 1600182 | G | A | Benign | criteria_provided,_single_submitter | intron_variant | 0.095603 | 1.168 | -0 |
1 | 1,047,561 | 263181 | T | C | Benign | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant | -0.137094 | 0.147 | -0 |
1 | 1,047,614 | 128302 | T | C | Benign | criteria_provided,_multiple_submitters,_no_conflicts | synonymous_variant | -0.571657 | -2.147 | -0.992 |
1 | 1,047,786 | 705904 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.816395 | -0.819 | -0.004 |
1 | 1,047,868 | 1070058 | C | T | Pathogenic | criteria_provided,_single_submitter | nonsense | -8.827417 | -1.316 | -0.958 |
1 | 1,048,025 | 585379 | G | A | Benign | criteria_provided,_multiple_submitters,_no_conflicts | synonymous_variant | 0.555237 | 4.634 | -0 |
1 | 1,048,126 | 128304 | C | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | 0.616387 | 2.607 | -0 |
1 | 1,048,232 | 128306 | G | A | Benign | criteria_provided,_multiple_submitters,_no_conflicts | synonymous_variant | 0.311879 | 0.228 | -0 |
1 | 1,048,545 | 678945 | C | A | Benign | criteria_provided,_single_submitter | intron_variant | 0.088346 | 2.387 | -0 |
1 | 1,048,636 | 678946 | G | A | Benign | criteria_provided,_single_submitter | intron_variant | -0.186739 | -0.96 | -0.015 |
1 | 1,048,653 | 678947 | C | T | Benign | criteria_provided,_single_submitter | intron_variant | -0.169446 | 0.073 | -0 |
1 | 1,048,681 | 678948 | C | T | Benign | criteria_provided,_single_submitter | intron_variant | -0.249262 | 3.502 | -0 |
1 | 1,048,722 | 678949 | G | A | Benign | criteria_provided,_single_submitter | intron_variant | -0.089299 | -0.207 | -0.001 |
1 | 1,048,822 | 678950 | A | G | Benign | criteria_provided,_single_submitter | intron_variant | 0.157575 | 2.274 | -0 |
1 | 1,048,900 | 703974 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -0.043271 | -0.272 | -0.519 |
1 | 1,048,922 | 128307 | T | C | Benign | criteria_provided,_multiple_submitters,_no_conflicts | synonymous_variant | 0.164736 | 1.246 | -0 |
1 | 1,049,066 | 706774 | G | A | Benign | criteria_provided,_single_submitter | intron_variant | 0.165415 | 0.448 | -0 |
1 | 1,049,076 | 387479 | C | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant | 0.251922 | 2.698 | -0 |
1 | 1,049,467 | 263186 | G | C | Benign | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant | -0.709701 | -0.863 | -0.001 |
1 | 1,049,508 | 678951 | A | G | Benign | criteria_provided,_single_submitter | intron_variant | 0.20802 | 0.4 | -0 |
1 | 1,049,791 | 128311 | C | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | synonymous_variant | -0.3077 | 0.224 | -0.006 |
1 | 1,049,859 | 678952 | C | T | Benign | criteria_provided,_single_submitter | intron_variant | 0.746915 | 2.948 | -0 |
1 | 1,049,886 | 263188 | C | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant | -0.039172 | 1.747 | -0 |
1 | 1,050,066 | 263191 | G | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant | 0.185045 | 1.239 | -0 |
1 | 1,050,067 | 1296035 | G | T | Benign | criteria_provided,_single_submitter | intron_variant | 0.378433 | 0.847 | -0 |
1 | 1,050,069 | 263192 | G | A | Benign | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant | 0.013953 | -0.166 | -0 |
1 | 1,050,070 | 1232566 | G | A | Benign | criteria_provided,_single_submitter | intron_variant | 0.1709 | 0.395 | -0 |
1 | 1,050,080 | 677953 | T | C | Benign | criteria_provided,_single_submitter | intron_variant | 0.409938 | 1.361 | -0 |
1 | 1,050,246 | 474140 | C | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | synonymous_variant | 0.643381 | 1.676 | -0 |
1 | 1,050,417 | 263193 | A | G | Benign | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant | -0.234865 | 1.266 | -0 |
1 | 1,050,446 | 128312 | G | A | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -1.744586 | -0.812 | -0.947 |
1 | 1,050,449 | 1284257 | G | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.882619 | -5.271 | -1 |
1 | 1,050,520 | 128313 | C | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | synonymous_variant | -0.010732 | 1.289 | -0.003 |
1 | 1,050,575 | 18241 | G | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.095325 | -9.276 | -1 |
1 | 1,050,619 | 678953 | G | T | Benign | criteria_provided,_single_submitter | intron_variant | 0.54471 | 1.85 | -0 |
1 | 1,050,630 | 1266237 | T | C | Benign | criteria_provided,_single_submitter | intron_variant | -0.614392 | -1.578 | -0.004 |
1 | 1,050,658 | 1240687 | G | A | Benign | criteria_provided,_single_submitter | intron_variant | 0.461766 | 1.402 | -0 |
1 | 1,050,658 | 1280910 | G | C | Benign | criteria_provided,_single_submitter | intron_variant | 0.49846 | 1.402 | -0 |
1 | 1,050,763 | 126555 | G | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.767892 | -3.928 | -1 |
1 | 1,050,807 | 474144 | C | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | synonymous_variant | 0.51156 | 1.247 | -0 |
1 | 1,050,855 | 1653719 | C | G | Benign | criteria_provided,_single_submitter | intron_variant | 0.790924 | 2.099 | -0 |
1 | 1,050,905 | 678954 | C | T | Benign | criteria_provided,_single_submitter | intron_variant | -0.482969 | 1.076 | -0 |
1 | 1,050,906 | 1227199 | C | T | Benign | criteria_provided,_single_submitter | intron_variant | -0.808218 | 0.696 | -0 |
1 | 1,051,063 | 677954 | C | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant | 0.096514 | 0.093 | -0 |
1 | 1,051,357 | 128315 | T | C | Benign | criteria_provided,_multiple_submitters,_no_conflicts | synonymous_variant | 0.368396 | 0.595 | -0.026 |
1 | 1,051,632 | 474153 | G | A | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.226215 | 1.24 | -0 |
1 | 1,051,762 | 128316 | C | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | synonymous_variant | 0.646172 | 1.572 | -0 |
1 | 1,051,820 | 128317 | C | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant | 0.127151 | 1.171 | -0.079 |
1 | 1,053,552 | 677955 | G | C | Benign | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant | 0.700791 | 0.545 | -0 |
1 | 1,053,768 | 474155 | G | A | Benign | criteria_provided,_multiple_submitters,_no_conflicts | synonymous_variant | -0.541985 | -2.705 | -1 |
1 | 1,053,840 | 1164598 | G | A | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.420767 | 1.125 | -0.012 |
1 | 1,053,915 | 474160 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.148034 | 3.992 | -0 |
1 | 1,054,081 | 1249682 | G | A | Benign | criteria_provided,_single_submitter | intron_variant | -0.161884 | -0.493 | -0.001 |
1 | 1,054,120 | 1265536 | G | A | Benign | criteria_provided,_single_submitter | intron_variant | -0.215789 | 0.37 | -0 |
1 | 1,054,900 | 128319 | C | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | synonymous_variant | 0.301894 | 0.712 | -0.006 |
1 | 1,055,000 | 263157 | C | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | 3_prime_UTR_variant | 0.206188 | 0.413 | -0.002 |
1 | 1,055,037 | 1292868 | T | C | Benign | criteria_provided,_single_submitter | 3_prime_UTR_variant | -1.138926 | -0.281 | -0.995 |
1 | 1,055,137 | 1185529 | C | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | 3_prime_UTR_variant | -0.460026 | -0.156 | -0.001 |
1 | 1,055,153 | 1293006 | G | A | Benign | criteria_provided,_single_submitter | 3_prime_UTR_variant | 0.50193 | 2.155 | -0 |
1 | 1,211,585 | 474798 | G | A | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.666297 | 11.301 | -0 |
1 | 1,211,644 | 1168816 | G | A | Benign | criteria_provided,_single_submitter | intron_variant | -0.102257 | 0.251 | -0 |
1 | 1,211,863 | 1243792 | A | C | Benign | criteria_provided,_single_submitter | intron_variant | -0.136844 | 0.141 | -0.002 |