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
⌀ |
|---|---|---|---|---|---|---|---|---|---|---|
X | 154,993,139 | 10172 | T | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.328593 | -7.03 | -1 |
X | 154,996,972 | 1330755 | C | T | Pathogenic | criteria_provided,_single_submitter | splice_donor_variant | -4.340214 | -6.472 | -1 |
X | 154,996,973 | 10170 | C | G | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.169719 | -6.472 | -1 |
X | 154,997,011 | 10169 | A | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.737467 | -7.668 | -1 |
X | 154,997,033 | 10168 | T | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.041474 | -1.507 | -1 |
X | 154,997,038 | 10167 | T | G | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -3.449766 | -3 | -1 |
X | 154,997,050 | 10166 | A | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.739562 | -7.668 | -1 |
X | 154,997,059 | 812076 | T | C | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.79491 | -6.56 | -1 |
X | 154,997,065 | 993612 | A | G | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.390466 | -3.005 | -1 |
X | 154,997,065 | 10165 | A | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.546287 | -3.005 | -1 |
X | 154,997,075 | 1330732 | G | A | Pathogenic | criteria_provided,_single_submitter | nonsense | -4.524961 | -0.351 | -0 |
X | 154,997,086 | 10164 | C | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.366295 | -6.472 | -1 |
X | 154,997,095 | 10163 | C | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.106276 | -6.472 | -1 |
X | 154,997,114 | 804143 | C | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant | -0.532671 | -0.217 | -0 |
X | 155,022,432 | 10156 | C | A | Pathogenic | criteria_provided,_single_submitter | missense_variant | -1.733919 | 0.847 | -0 |
X | 155,022,449 | 10352 | T | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.242551 | -3.547 | -0.994 |
X | 155,022,464 | 10154 | T | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.099694 | -2.097 | -0.838 |
X | 155,022,476 | 10153 | A | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.793442 | -4.138 | -1 |
X | 155,022,510 | 10152 | G | A | Pathogenic | criteria_provided,_single_submitter | nonsense | -3.749267 | -0.456 | -0.001 |
X | 155,116,702 | 710187 | A | G | Benign | criteria_provided,_single_submitter | intron_variant | 0.358846 | 0.641 | -0 |
X | 155,220,227 | 781579 | A | C | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.899682 | -0.604 | -0.996 |
X | 155,258,858 | 368129 | T | A | Benign | criteria_provided,_single_submitter | 3_prime_UTR_variant | -0.417797 | -3.5 | -0.489 |
X | 155,258,990 | 368131 | G | T | Benign | criteria_provided,_single_submitter | 3_prime_UTR_variant | -0.578235 | -1.769 | -0.993 |
X | 155,259,223 | 368135 | G | C | Benign | criteria_provided,_single_submitter | 3_prime_UTR_variant | -0.836595 | -0.74 | -1 |
X | 155,259,456 | 368137 | G | A | Benign | criteria_provided,_single_submitter | 3_prime_UTR_variant | -0.05607 | -0.139 | -0.82 |
X | 155,259,724 | 368138 | T | G | Benign | criteria_provided,_single_submitter | 3_prime_UTR_variant | 0.194633 | 0.199 | -0.017 |
X | 155,259,763 | 368139 | G | A | Benign | criteria_provided,_single_submitter | 3_prime_UTR_variant | 0.275285 | -0.004 | -0.627 |
X | 155,259,797 | 368140 | T | C | Benign | criteria_provided,_single_submitter | 3_prime_UTR_variant | -0.046706 | 0.029 | -0.013 |
X | 155,260,521 | 368144 | C | A | Benign | criteria_provided,_single_submitter | 3_prime_UTR_variant | -0.238226 | -0.36 | -0.002 |
X | 155,260,871 | 218362 | C | T | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.404033 | -7.503 | -1 |
X | 155,260,886 | 436462 | C | A | Pathogenic | criteria_provided,_single_submitter | nonsense | -6.910786 | -7.503 | -1 |
X | 155,260,942 | 156532 | G | T | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.851782 | -9.515 | -1 |
X | 155,261,115 | 1536817 | G | A | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.460759 | -0.174 | -0.982 |
X | 155,264,073 | 10542 | C | T | Pathogenic | no_assertion_criteria_provided | splice_donor_variant | -5.693533 | -7.512 | -1 |
X | 155,264,268 | 10543 | G | T | Pathogenic | no_assertion_criteria_provided | nonsense | -6.476623 | -2.536 | -1 |
X | 155,264,287 | 489029 | A | G | Pathogenic | criteria_provided,_single_submitter | initiatior_codon_variant,missense_variant | -3.84664 | -5.799 | -1 |
X | 155,514,051 | 720856 | G | A | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.625572 | -1.885 | -1 |
X | 155,773,979 | 726033 | A | G | Benign | criteria_provided,_single_submitter | synonymous_variant | -1.08615 | -0.948 | -1 |
X | 155,898,234 | 777848 | C | G | Benign | criteria_provided,_single_submitter | non-coding_transcript_variant,synonymous_variant | -0.464614 | 0.553 | -0.021 |
X | 155,900,534 | 721652 | T | C | Benign | criteria_provided,_single_submitter | missense_variant,non-coding_transcript_variant | -1.569002 | -2.337 | -1 |
X | 156,003,570 | 785714 | G | A | Benign | criteria_provided,_single_submitter | intron_variant | -0.336053 | 0.354 | -0.001 |
X | 156,004,559 | 783917 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | -1.350501 | -0.578 | -0.997 |
X | 156,009,834 | 769193 | G | A | Benign | criteria_provided,_single_submitter | missense_variant,synonymous_variant | 0.198903 | 0.349 | -0 |
X | 156,009,937 | 771064 | G | A | Benign | criteria_provided,_single_submitter | 3_prime_UTR_variant,missense_variant | 0.389931 | 0.936 | -0 |
Y | 2,787,139 | 703672 | G | A | Benign | criteria_provided,_multiple_submitters,_no_conflicts | synonymous_variant | -0.352044 | -2.93 | -0.985 |
Y | 2,787,207 | 9752 | G | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -2.891511 | -0.519 | -0.973 |
Y | 2,787,224 | 9756 | T | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -2.728874 | -5.728 | -1 |
Y | 2,787,224 | 470196 | T | C | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.420757 | -5.728 | -1 |
Y | 2,787,267 | 9744 | C | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -2.708585 | -5.679 | -1 |
Y | 2,787,273 | 436871 | G | A | Pathogenic | criteria_provided,_single_submitter | nonsense | -3.709108 | -4.073 | -1 |
Y | 2,787,278 | 9738 | A | G | Pathogenic | no_assertion_criteria_provided | missense_variant | -2.991749 | -3.839 | -1 |
Y | 2,787,284 | 9745 | C | T | Pathogenic | no_assertion_criteria_provided | nonsense | -4.052587 | -4.071 | -1 |
Y | 2,787,287 | 9742 | T | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -2.909237 | -5.76 | -1 |
Y | 2,787,316 | 537738 | G | C | Pathogenic | criteria_provided,_single_submitter | nonsense | -3.267046 | 1.594 | -0.072 |
Y | 2,787,320 | 9755 | C | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -2.895614 | -5.679 | -1 |
Y | 2,787,321 | 9750 | C | G | Pathogenic | no_assertion_criteria_provided | missense_variant | -2.999386 | -5.679 | -1 |
Y | 2,787,327 | 9740 | G | A | Pathogenic | no_assertion_criteria_provided | nonsense | -4.025985 | -2.443 | -1 |
Y | 2,787,330 | 9749 | T | A | Pathogenic | no_assertion_criteria_provided | nonsense | -4.444727 | -4.147 | -1 |
Y | 2,787,334 | 9741 | G | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -2.739265 | -4.195 | -1 |
Y | 2,787,341 | 537739 | G | T | Pathogenic | criteria_provided,_single_submitter | nonsense | -4.443976 | -7.086 | -1 |
Y | 2,787,395 | 9748 | C | T | Pathogenic | no_assertion_criteria_provided | nonsense | -3.858754 | -5.679 | -1 |
Y | 2,787,401 | 9746 | A | G | Pathogenic | criteria_provided,_single_submitter | missense_variant | -2.391004 | -6.626 | -1 |
Y | 2,787,412 | 9747 | C | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -2.35107 | -5.679 | -1 |
Y | 2,787,426 | 9739 | C | G | Pathogenic | no_assertion_criteria_provided | missense_variant | -2.215825 | -5.679 | -1 |
Y | 2,787,435 | 664404 | G | A | Pathogenic | criteria_provided,_single_submitter | nonsense | -3.006276 | -4.058 | -1 |
Y | 2,787,515 | 492908 | C | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -1.614399 | 0.091 | -0 |
Y | 2,787,551 | 9754 | C | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -0.541464 | -0.675 | -0.989 |
Y | 2,787,592 | 9751 | A | T | Pathogenic | no_assertion_criteria_provided | nonsense | -2.552514 | -0.052 | -0.911 |
Y | 2,787,600 | 9753 | G | A | Pathogenic | no_assertion_criteria_provided | nonsense | -2.001044 | 0.345 | -0.086 |
Y | 7,063,898 | 625467 | A | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.594089 | -6.04 | -1 |
Y | 7,064,150 | 719064 | G | C | Benign | criteria_provided,_single_submitter | splice_donor_variant | -4.012242 | -8.227 | -1 |
Y | 12,812,934 | 1269192 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | -3.766775 | -0.907 | -1 |
Y | 14,824,201 | 777318 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.571704 | 0.652 | -0.342 |