chrom
stringclasses 24
values | pos
int64 45.7k
248M
| ref
stringclasses 4
values | alt
stringclasses 4
values | label
stringclasses 2
values | id
stringlengths 1
7
| review_status
stringclasses 5
values | consequence
stringclasses 77
values |
|---|---|---|---|---|---|---|---|
1
| 1,815,796
|
G
|
C
|
Pathogenic
|
1321652
|
criteria_provided,_single_submitter
|
intron_variant,missense_variant
|
1
| 1,817,857
|
C
|
T
|
Benign
|
2076600
|
criteria_provided,_single_submitter
|
intron_variant,missense_variant
|
1
| 1,916,758
|
G
|
C
|
Benign
|
783273
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,923,833
|
C
|
G
|
Pathogenic
|
2443734
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 1,927,024
|
C
|
T
|
Pathogenic
|
2443732
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 1,970,722
|
C
|
T
|
Pathogenic
|
2443731
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 1,974,047
|
G
|
A
|
Pathogenic
|
2443733
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 2,029,197
|
C
|
G
|
Pathogenic
|
1805963
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 2,055,515
|
G
|
A
|
Benign
|
714063
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 2,228,825
|
C
|
T
|
Pathogenic
|
409969
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 2,228,828
|
T
|
G
|
Pathogenic
|
224869
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 2,228,848
|
T
|
A
|
Pathogenic
|
2202692
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 2,228,857
|
T
|
C
|
Pathogenic
|
692060
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 2,228,860
|
C
|
G
|
Pathogenic
|
37259
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 2,228,866
|
G
|
C
|
Pathogenic
|
2225761
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 2,228,866
|
G
|
T
|
Pathogenic
|
37262
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 2,228,867
|
G
|
A
|
Pathogenic
|
37260
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 2,228,867
|
G
|
T
|
Pathogenic
|
39783
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 2,228,869
|
C
|
T
|
Pathogenic
|
39786
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 2,229,031
|
C
|
T
|
Pathogenic
|
944376
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 2,406,526
|
G
|
C
|
Pathogenic
|
6771
|
no_assertion_criteria_provided
|
missense_variant,non-coding_transcript_variant
|
1
| 2,406,569
|
C
|
G
|
Pathogenic
|
1686018
|
criteria_provided,_single_submitter
|
missense_variant,non-coding_transcript_variant
|
1
| 2,408,617
|
C
|
T
|
Benign
|
559056
|
criteria_provided,_multiple_submitters,_no_conflicts
|
initiatior_codon_variant,missense_variant,non-coding_transcript_variant
|
1
| 2,408,720
|
A
|
G
|
Benign
|
559058
|
criteria_provided,_multiple_submitters,_no_conflicts
|
5_prime_UTR_variant,missense_variant,non-coding_transcript_variant
|
1
| 2,412,501
|
A
|
G
|
Pathogenic
|
162434
|
criteria_provided,_multiple_submitters,_no_conflicts
|
initiatior_codon_variant,intron_variant,missense_variant
|
1
| 2,412,502
|
T
|
A
|
Pathogenic
|
1410903
|
criteria_provided,_single_submitter
|
initiatior_codon_variant,intron_variant,missense_variant
|
1
| 2,476,671
|
G
|
C
|
Benign
|
779852
|
criteria_provided,_single_submitter
|
5_prime_UTR_variant,intron_variant,missense_variant
|
1
| 2,479,937
|
G
|
A
|
Benign
|
713841
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 2,504,320
|
G
|
A
|
Benign
|
787198
|
criteria_provided,_single_submitter
|
3_prime_UTR_variant,missense_variant
|
1
| 2,591,973
|
C
|
T
|
Benign
|
737413
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 2,604,193
|
T
|
C
|
Benign
|
712823
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 2,605,602
|
T
|
G
|
Benign
|
727107
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 3,411,763
|
G
|
T
|
Benign
|
474407
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 3,411,794
|
T
|
C
|
Benign
|
227026
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 3,414,616
|
T
|
C
|
Pathogenic
|
60729
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 3,426,071
|
C
|
T
|
Benign
|
227034
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 3,430,888
|
G
|
A
|
Benign
|
60727
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 3,478,438
|
T
|
C
|
Benign
|
780210
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 3,490,548
|
C
|
T
|
Benign
|
786447
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 3,495,901
|
C
|
T
|
Benign
|
719697
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 3,498,793
|
C
|
T
|
Benign
|
710836
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 3,499,609
|
G
|
A
|
Benign
|
720893
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 3,501,198
|
C
|
T
|
Benign
|
712404
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 3,501,835
|
G
|
A
|
Benign
|
785924
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 3,514,574
|
C
|
A
|
Benign
|
711682
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 3,515,461
|
C
|
T
|
Benign
|
785926
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 3,602,598
|
G
|
A
|
Benign
|
791772
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 3,727,758
|
G
|
A
|
Benign
|
714065
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 3,752,792
|
G
|
A
|
Benign
|
788937
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 3,823,181
|
C
|
T
|
Benign
|
1168388
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 3,826,391
|
G
|
A
|
Benign
|
1165705
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 3,829,360
|
G
|
A
|
Benign
|
1170301
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 3,836,499
|
G
|
T
|
Benign
|
1274595
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 3,836,572
|
A
|
T
|
Benign
|
1166783
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 4,711,974
|
C
|
T
|
Benign
|
787731
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 4,712,475
|
G
|
A
|
Benign
|
778204
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 5,867,109
|
G
|
A
|
Benign
|
220304
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant,non-coding_transcript_variant
|
1
| 5,874,557
|
G
|
A
|
Benign
|
1599216
|
criteria_provided,_single_submitter
|
missense_variant,non-coding_transcript_variant
|
1
| 5,874,946
|
A
|
G
|
Pathogenic
|
3402
|
no_assertion_criteria_provided
|
missense_variant,non-coding_transcript_variant
|
1
| 5,877,098
|
C
|
T
|
Benign
|
260550
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant,non-coding_transcript_variant
|
1
| 5,904,794
|
C
|
T
|
Benign
|
194659
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant,non-coding_transcript_variant
|
1
| 5,909,165
|
G
|
C
|
Benign
|
215518
|
criteria_provided,_multiple_submitters,_no_conflicts
|
intron_variant,missense_variant,non-coding_transcript_variant
|
1
| 5,986,168
|
G
|
A
|
Benign
|
1626035
|
criteria_provided,_single_submitter
|
5_prime_UTR_variant,intron_variant,missense_variant,non-coding_transcript_variant
|
1
| 5,986,204
|
G
|
A
|
Benign
|
260561
|
criteria_provided,_multiple_submitters,_no_conflicts
|
5_prime_UTR_variant,intron_variant,missense_variant,non-coding_transcript_variant
|
1
| 6,218,354
|
A
|
G
|
Benign
|
1274153
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 6,250,564
|
C
|
T
|
Benign
|
783275
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 6,254,688
|
C
|
T
|
Benign
|
783276
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 6,425,205
|
G
|
T
|
Benign
|
668259
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 6,440,656
|
C
|
G
|
Benign
|
508587
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 6,444,559
|
C
|
T
|
Benign
|
178607
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 6,445,735
|
C
|
T
|
Benign
|
1228456
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 6,445,736
|
G
|
A
|
Benign
|
676419
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 6,448,812
|
C
|
T
|
Benign
|
508563
|
criteria_provided,_multiple_submitters,_no_conflicts
|
intron_variant,missense_variant
|
1
| 6,448,885
|
C
|
T
|
Benign
|
445819
|
criteria_provided,_multiple_submitters,_no_conflicts
|
intron_variant,missense_variant
|
1
| 6,449,070
|
C
|
T
|
Benign
|
1182246
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 6,451,926
|
A
|
C
|
Pathogenic
|
4420
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 6,452,092
|
G
|
A
|
Pathogenic
|
4422
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 6,468,009
|
C
|
G
|
Benign
|
287488
|
criteria_provided,_multiple_submitters,_no_conflicts
|
intron_variant,missense_variant
|
1
| 6,468,242
|
T
|
C
|
Benign
|
235230
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 6,468,260
|
C
|
T
|
Benign
|
287487
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 6,468,408
|
C
|
T
|
Benign
|
285567
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 6,471,064
|
T
|
C
|
Benign
|
297958
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 6,471,529
|
C
|
T
|
Benign
|
297959
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 6,473,333
|
G
|
C
|
Benign
|
198895
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 6,473,355
|
C
|
T
|
Benign
|
198896
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 6,475,089
|
A
|
G
|
Benign
|
297975
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 6,485,330
|
A
|
T
|
Benign
|
380863
|
criteria_provided,_single_submitter
|
intron_variant,missense_variant
|
1
| 6,574,673
|
C
|
G
|
Benign
|
709202
|
criteria_provided,_single_submitter
|
intron_variant,missense_variant
|
1
| 6,575,249
|
C
|
A
|
Benign
|
775497
|
criteria_provided,_single_submitter
|
intron_variant,missense_variant
|
1
| 6,578,865
|
C
|
T
|
Benign
|
767648
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 6,578,866
|
G
|
A
|
Benign
|
775498
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 7,249,591
|
G
|
A
|
Pathogenic
|
1691186
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 7,249,592
|
A
|
G
|
Pathogenic
|
1342309
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 7,249,611
|
G
|
C
|
Pathogenic
|
973014
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 7,664,159
|
T
|
A
|
Benign
|
732186
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 7,664,637
|
C
|
T
|
Benign
|
712671
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 7,732,460
|
G
|
A
|
Benign
|
788497
|
criteria_provided,_single_submitter
|
5_prime_UTR_variant,missense_variant
|
1
| 7,737,443
|
C
|
G
|
Benign
|
128565
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 7,737,468
|
G
|
A
|
Benign
|
2170333
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 7,737,474
|
C
|
T
|
Benign
|
770110
|
criteria_provided,_single_submitter
|
missense_variant
|
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