Dataset Viewer
chrom
stringclasses 24
values | pos
int64 47.1k
248M
| id
stringlengths 1
7
| ref
stringclasses 4
values | alt
stringclasses 4
values | clin_sig
stringclasses 2
values | review_status
stringclasses 5
values | consequence
stringclasses 71
values | CADD
float64 -12.41
2.86
| phyloP
float64 -10
20
| phastCons
float64 -1
-0
| ESM-1b
float64 -25.89
12.8
⌀ |
---|---|---|---|---|---|---|---|---|---|---|---|
1
| 930,165 |
1164676
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -4.225333 | -5.113 | -1 | -8.967 |
1
| 930,204 |
1170208
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -2.879554 | -3.43 | -1 | -5.529 |
1
| 930,285 |
1165489
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -0.091394 | -0.322 | -0.107 | -4.687 |
1
| 930,314 |
1170010
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -2.481464 | -3.747 | -0.081 | -4.295 |
1
| 935,779 |
1167937
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -1.831757 | -2.981 | -1 | -2.864 |
1
| 939,429 |
1167351
|
G
|
C
|
Benign
|
criteria_provided,_single_submitter
|
intron_variant,missense_variant
| -0.313022 | 0.492 | -0 | -1.728 |
1
| 942,451 |
1166513
|
T
|
C
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -1.997533 | -1.367 | -0.656 | 8.487 |
1
| 942,930 |
1169836
|
T
|
C
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -0.46896 | 0.204 | -0 | -1.218 |
1
| 942,945 |
1170437
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -0.523057 | 0.755 | -0 | -4.383 |
1
| 942,951 |
1170505
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -0.69239 | 0.13 | -0 | -4.413 |
1
| 944,001 |
1164573
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -1.909588 | -0.814 | -0.002 | -7.529 |
1
| 944,004 |
1164106
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -0.009384 | 0.304 | -0 | -4.172 |
1
| 944,029 |
1168053
|
C
|
G
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -2.31958 | -1.335 | -0.001 | -3.925 |
1
| 944,101 |
780745
|
G
|
C
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -2.087584 | -2.811 | -1 | -6.228 |
1
| 966,542 |
782833
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -2.509645 | -0.169 | -0.004 | -10.15 |
1
| 966,543 |
782834
|
C
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -3.16139 | 0.285 | -0 | -9.608 |
1
| 972,895 |
770481
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -0.504602 | -1.814 | -0.061 | -3.092 |
1
| 973,842 |
791106
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -1.832995 | -2.734 | -0.063 | -4.53 |
1
| 1,014,042 |
475283
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| 0.443816 | 0.676 | -0 | -5.595 |
1
| 1,014,228 |
402986
|
G
|
A
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| -0.027262 | 0.396 | -0 | -4.136 |
1
| 1,020,183 |
387476
|
G
|
C
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| -0.812271 | 1.405 | -0 | -3.27 |
1
| 1,022,313 |
243037
|
A
|
T
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -4.210583 | -5.733 | -1 | -3.284 |
1
| 1,041,583 |
128291
|
A
|
G
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| 1.129235 | 1.898 | -0 | -2.423 |
1
| 1,044,368 |
128294
|
A
|
T
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| -4.190468 | -5.452 | -1 | -6.692 |
1
| 1,045,751 |
263173
|
A
|
G
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| 0.143737 | 0.151 | -0 | -2.091 |
1
| 1,047,342 |
128299
|
A
|
G
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| -3.744859 | -2.004 | -1 | -7.347 |
1
| 1,048,126 |
128304
|
C
|
T
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| 0.616387 | 2.607 | -0 | -4.836 |
1
| 1,048,900 |
703974
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -0.043271 | -0.272 | -0.519 | -3.147 |
1
| 1,050,446 |
128312
|
G
|
A
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| -1.744586 | -0.812 | -0.947 | -6.132 |
1
| 1,050,449 |
1284257
|
G
|
A
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -3.882619 | -5.271 | -1 | -7.674 |
1
| 1,050,575 |
18241
|
G
|
C
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -4.095325 | -9.276 | -1 | -13.196 |
1
| 1,050,763 |
126555
|
G
|
T
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -3.767892 | -3.928 | -1 | -11.977 |
1
| 1,213,738 |
96692
|
G
|
A
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -1.622702 | 0.097 | -0 | -9.152 |
1
| 1,214,100 |
474794
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -1.398429 | 0.34 | -0 | -4.77 |
1
| 1,232,279 |
60484
|
A
|
G
|
Pathogenic
|
criteria_provided,_multiple_submitters,_no_conflicts
|
initiatior_codon_variant,missense_variant
| -2.298613 | -2.027 | -0.925 | null |
1
| 1,232,280 |
1452181
|
T
|
C
|
Pathogenic
|
criteria_provided,_single_submitter
|
initiatior_codon_variant,missense_variant
| -2.745302 | -1.175 | -0.99 | null |
1
| 1,232,294 |
60493
|
C
|
T
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -3.156854 | -2.011 | -0.011 | -6.582 |
1
| 1,232,387 |
800256
|
G
|
A
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| -0.606681 | 1.233 | -0 | -3.335 |
1
| 1,232,471 |
60488
|
A
|
G
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -2.945049 | -2.086 | -0.997 | -11.587 |
1
| 1,232,478 |
60489
|
C
|
T
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -3.931606 | -2.033 | -0.993 | -9.659 |
1
| 1,232,735 |
390636
|
C
|
A
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| -3.915694 | -2.68 | -1 | -11.996 |
1
| 1,232,744 |
60486
|
G
|
A
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -4.68026 | -7.4 | -1 | -10.741 |
1
| 1,232,754 |
869983
|
C
|
A
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -4.121125 | -4.766 | -1 | -15.88 |
1
| 1,232,800 |
281204
|
G
|
C
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| -0.830179 | -0.466 | -0.998 | -2.994 |
1
| 1,232,834 |
522415
|
T
|
C
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -4.516843 | -3.777 | -1 | -6.756 |
1
| 1,232,896 |
869985
|
C
|
G
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -3.667146 | 0.325 | -0.335 | -14.467 |
1
| 1,232,897 |
60495
|
G
|
C
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -4.542989 | -6.691 | -1 | -10.692 |
1
| 1,232,927 |
60496
|
G
|
A
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -4.493109 | -6.663 | -1 | -13.48 |
1
| 1,233,044 |
996067
|
C
|
T
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -4.400743 | -2.068 | -1 | -12.325 |
1
| 1,233,177 |
60487
|
G
|
C
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -4.25814 | -5.541 | -1 | -13.798 |
1
| 1,233,203 |
60491
|
T
|
A
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -3.938952 | -5.873 | -1 | -9.292 |
1
| 1,242,601 |
789547
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -0.625257 | 0.6 | -0 | -4.845 |
1
| 1,242,864 |
772646
|
G
|
C
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| 0.148836 | -0.36 | -0 | 0.345 |
1
| 1,332,630 |
775486
|
G
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -3.222589 | -1.914 | -0.937 | -5.17 |
1
| 1,334,108 |
1222088
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -0.004351 | -0.198 | -0 | -6.573 |
1
| 1,336,269 |
1600778
|
A
|
G
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -0.170895 | -0.321 | -0.459 | -2.601 |
1
| 1,336,404 |
1535754
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -1.085777 | -0.985 | -0.014 | -3.064 |
1
| 1,336,428 |
722475
|
C
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -3.522542 | -6.589 | -1 | -8.601 |
1
| 1,336,467 |
1166885
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -2.948811 | -1.555 | -0.882 | -7.468 |
1
| 1,340,312 |
1599156
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -3.946704 | -9.832 | -1 | -13.608 |
1
| 1,340,424 |
599454
|
G
|
C
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| -2.798378 | -2.056 | -0.454 | -5.409 |
1
| 1,341,749 |
1611353
|
G
|
C
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -1.244569 | -1.429 | -0.979 | -2.602 |
1
| 1,341,803 |
1169213
|
C
|
T
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| -0.188021 | -0.139 | -0.014 | -4.991 |
1
| 1,437,393 |
781924
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant,synonymous_variant
| 0.482969 | 6.112 | -0 | -4.539 |
1
| 1,439,425 |
1229112
|
G
|
C
|
Benign
|
criteria_provided,_single_submitter
|
3_prime_UTR_variant,missense_variant
| 0.426661 | 2.109 | -0 | -2.55 |
1
| 1,454,394 |
1253304
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -2.71155 | -5.155 | -1 | -6.919 |
1
| 1,477,279 |
780746
|
G
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -3.226881 | -7.939 | -1 | -4.851 |
1
| 1,495,783 |
786444
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| 0.714693 | 0.107 | -0 | -4.288 |
1
| 1,495,785 |
767642
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -0.047896 | 0.81 | -0 | -3.32 |
1
| 1,512,287 |
1675332
|
A
|
G
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -1.664855 | -0.859 | -0.738 | -4.941 |
1
| 1,516,036 |
828051
|
T
|
G
|
Pathogenic
|
no_assertion_criteria_provided
|
5_prime_UTR_variant,missense_variant
| -3.368562 | -6.341 | -0.992 | -3.651 |
1
| 1,523,535 |
791764
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -1.60955 | -2.402 | -1 | -8.344 |
1
| 1,525,242 |
637018
|
T
|
G
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -3.512934 | -6.29 | -1 | -16.213 |
1
| 1,527,718 |
1685550
|
A
|
G
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -2.774607 | -5.907 | -1 | -9.9 |
1
| 1,527,777 |
791767
|
G
|
C
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -1.125781 | -3.741 | -0.628 | -10.657 |
1
| 1,535,370 |
161196
|
G
|
A
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -4.262362 | -1.591 | -0.966 | -5.859 |
1
| 1,535,427 |
1235425
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -0.095812 | -0.301 | -0.004 | -3.649 |
1
| 1,535,616 |
161194
|
G
|
A
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -4.118985 | -2.772 | -1 | -4.685 |
1
| 1,535,619 |
523023
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -3.489369 | -2.753 | -0.989 | -5.215 |
1
| 1,535,723 |
161195
|
G
|
A
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -3.741044 | -5.617 | -1 | -4.354 |
1
| 1,626,711 |
780208
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant,non-coding_transcript_variant
| -1.337381 | -1.936 | -0.862 | -10.223 |
1
| 1,757,140 |
791769
|
C
|
A
|
Benign
|
criteria_provided,_single_submitter
|
intron_variant,missense_variant
| -0.470473 | -0.634 | -0.001 | -4.774 |
1
| 1,759,182 |
716793
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
intron_variant,missense_variant
| -1.049697 | -0.053 | -0.002 | -3.677 |
1
| 1,759,828 |
716794
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
intron_variant,missense_variant
| 0.046505 | -0.008 | -0 | -4.718 |
1
| 1,789,242 |
995963
|
T
|
C
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -3.893146 | -7.889 | -1 | -15.005 |
1
| 1,790,444 |
1551623
|
A
|
G
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -2.533852 | -9.101 | -1 | -4.293 |
1
| 1,790,578 |
1610568
|
C
|
G
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -3.084199 | -1.134 | -1 | -6.134 |
1
| 1,793,270 |
1594453
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -2.061848 | -3.345 | -0.996 | -4.001 |
1
| 1,804,496 |
521213
|
T
|
C
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -4.523403 | -7.839 | -1 | -15.496 |
1
| 1,804,497 |
812755
|
C
|
A
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -4.21045 | -7.729 | -1 | -15.91 |
1
| 1,804,502 |
1194565
|
C
|
A
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -3.918063 | -7.729 | -1 | -17.041 |
1
| 1,804,508 |
1315581
|
C
|
T
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -3.913554 | -7.729 | -1 | -16.842 |
1
| 1,804,562 |
995962
|
C
|
A
|
Pathogenic
|
no_assertion_criteria_provided
|
5_prime_UTR_variant,missense_variant
| -3.636235 | -7.729 | -1 | -16.534 |
1
| 1,804,575 |
633546
|
C
|
T
|
Pathogenic
|
criteria_provided,_multiple_submitters,_no_conflicts
|
5_prime_UTR_variant,missense_variant
| -3.542664 | -7.729 | -1 | -8.686 |
1
| 1,806,503 |
391609
|
A
|
C
|
Pathogenic
|
criteria_provided,_single_submitter
|
5_prime_UTR_variant,missense_variant
| -4.387314 | -9.083 | -1 | -15.412 |
1
| 1,806,503 |
224715
|
A
|
T
|
Pathogenic
|
criteria_provided,_multiple_submitters,_no_conflicts
|
5_prime_UTR_variant,missense_variant
| -4.256918 | -9.083 | -1 | -13.221 |
1
| 1,806,512 |
1315582
|
C
|
A
|
Pathogenic
|
no_assertion_criteria_provided
|
5_prime_UTR_variant,missense_variant
| -3.826645 | -7.706 | -1 | -21.37 |
1
| 1,806,513 |
1700090
|
C
|
A
|
Pathogenic
|
criteria_provided,_single_submitter
|
5_prime_UTR_variant,missense_variant
| -4.119774 | -7.706 | -1 | -12.053 |
1
| 1,806,514 |
1699320
|
A
|
T
|
Pathogenic
|
criteria_provided,_single_submitter
|
5_prime_UTR_variant,missense_variant
| -3.207073 | -2.553 | -1 | -12.567 |
1
| 1,806,515 |
224711
|
T
|
C
|
Pathogenic
|
criteria_provided,_multiple_submitters,_no_conflicts
|
5_prime_UTR_variant,missense_variant
| -4.491082 | -7.815 | -1 | -13.055 |
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