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
| 7,737,485
|
G
|
C
|
Benign
|
730882
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 7,737,559
|
G
|
A
|
Benign
|
737821
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 7,737,565
|
A
|
C
|
Benign
|
714195
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 7,737,567
|
C
|
G
|
Benign
|
2058069
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 7,809,893
|
C
|
G
|
Pathogenic
|
242410
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 7,809,900
|
A
|
G
|
Pathogenic
|
242411
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 7,809,908
|
G
|
A
|
Benign
|
783921
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 7,827,174
|
C
|
T
|
Benign
|
780748
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 7,827,202
|
G
|
A
|
Benign
|
779061
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 7,827,439
|
T
|
G
|
Benign
|
741381
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 7,842,676
|
G
|
C
|
Benign
|
789550
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 7,852,915
|
G
|
A
|
Benign
|
709174
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 7,935,030
|
G
|
T
|
Benign
|
775499
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 7,938,214
|
C
|
T
|
Pathogenic
|
2444021
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 7,962,863
|
G
|
A
|
Pathogenic
|
7065
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 7,965,348
|
G
|
T
|
Pathogenic
|
7069
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 7,965,425
|
G
|
C
|
Pathogenic
|
7067
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 7,970,963
|
G
|
A
|
Pathogenic
|
1334459
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 7,984,981
|
T
|
C
|
Pathogenic
|
7064
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 8,013,883
|
G
|
A
|
Benign
|
710834
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 8,014,127
|
T
|
G
|
Benign
|
791774
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 8,335,500
|
G
|
T
|
Benign
|
1333148
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 8,355,567
|
T
|
C
|
Benign
|
2150683
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 8,356,159
|
G
|
A
|
Pathogenic
|
1686125
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 8,358,216
|
T
|
C
|
Pathogenic
|
562007
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 8,358,230
|
G
|
C
|
Pathogenic
|
545041
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 8,358,232
|
G
|
A
|
Pathogenic
|
562005
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 8,358,235
|
A
|
G
|
Pathogenic
|
562004
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 8,358,238
|
G
|
A
|
Pathogenic
|
1686749
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 8,358,264
|
G
|
A
|
Pathogenic
|
1254418
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 8,358,481
|
C
|
A
|
Benign
|
2128607
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 8,358,481
|
C
|
T
|
Benign
|
1599420
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 8,358,868
|
T
|
C
|
Benign
|
1935090
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 8,358,882
|
C
|
G
|
Benign
|
1939240
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 8,358,888
|
C
|
T
|
Benign
|
1519139
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 8,359,916
|
C
|
T
|
Pathogenic
|
236216
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 8,359,926
|
C
|
G
|
Benign
|
1915407
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 8,360,443
|
G
|
C
|
Benign
|
445630
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 8,360,503
|
C
|
T
|
Benign
|
1694488
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 8,360,646
|
G
|
A
|
Benign
|
976254
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 8,422,737
|
T
|
C
|
Benign
|
711834
|
criteria_provided,_single_submitter
|
5_prime_UTR_variant,missense_variant
|
1
| 8,466,005
|
C
|
T
|
Benign
|
2420663
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 8,656,003
|
T
|
C
|
Benign
|
2009763
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 8,656,243
|
G
|
A
|
Benign
|
1627301
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 9,013,532
|
A
|
T
|
Benign
|
775501
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 9,023,035
|
G
|
T
|
Benign
|
780761
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 9,047,700
|
T
|
C
|
Benign
|
771300
|
criteria_provided,_single_submitter
|
intron_variant,missense_variant
|
1
| 9,245,334
|
C
|
T
|
Benign
|
735495
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 9,245,386
|
A
|
C
|
Benign
|
1601522
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 9,247,017
|
G
|
A
|
Benign
|
777320
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 9,263,569
|
G
|
A
|
Pathogenic
|
31585
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 9,263,826
|
G
|
A
|
Benign
|
1558499
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 9,263,851
|
G
|
A
|
Benign
|
16131
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 9,263,943
|
A
|
G
|
Benign
|
784929
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 9,264,154
|
C
|
T
|
Benign
|
1600034
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 9,264,279
|
G
|
A
|
Benign
|
787734
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 9,264,483
|
G
|
A
|
Benign
|
2064085
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 9,264,760
|
C
|
T
|
Benign
|
759949
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 9,595,907
|
C
|
T
|
Benign
|
775503
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 9,610,680
|
C
|
A
|
Benign
|
785929
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 9,612,988
|
C
|
T
|
Benign
|
775507
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 9,717,064
|
G
|
A
|
Benign
|
474036
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 9,717,541
|
C
|
G
|
Benign
|
440066
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 9,719,924
|
T
|
C
|
Pathogenic
|
132808
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 9,720,138
|
A
|
G
|
Benign
|
474023
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 9,720,166
|
C
|
T
|
Benign
|
709503
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 9,720,790
|
T
|
A
|
Pathogenic
|
1406866
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 9,720,791
|
A
|
C
|
Pathogenic
|
1457684
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 9,726,972
|
G
|
A
|
Pathogenic
|
88675
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 9,726,985
|
A
|
G
|
Pathogenic
|
422410
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 9,773,277
|
A
|
T
|
Benign
|
791146
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 9,972,074
|
A
|
G
|
Pathogenic
|
978252
|
no_assertion_criteria_provided
|
initiatior_codon_variant,missense_variant
|
1
| 9,972,096
|
A
|
C
|
Benign
|
798231
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 9,972,098
|
G
|
A
|
Pathogenic
|
37140
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 9,975,672
|
C
|
T
|
Pathogenic
|
982555
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 9,975,681
|
A
|
G
|
Pathogenic
|
972092
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 9,975,721
|
T
|
C
|
Pathogenic
|
1062688
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 9,982,318
|
C
|
G
|
Pathogenic
|
37139
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 9,982,480
|
C
|
T
|
Pathogenic
|
37133
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 9,982,490
|
T
|
C
|
Pathogenic
|
813197
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 9,982,570
|
C
|
T
|
Pathogenic
|
845745
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 9,982,571
|
G
|
T
|
Pathogenic
|
37138
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 9,982,577
|
T
|
C
|
Pathogenic
|
464670
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 9,982,630
|
G
|
A
|
Pathogenic
|
37134
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 9,982,678
|
A
|
G
|
Pathogenic
|
37135
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 10,135,127
|
A
|
G
|
Benign
|
778206
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 10,258,602
|
A
|
T
|
Pathogenic
|
4658
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 10,297,018
|
T
|
A
|
Benign
|
917102
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 10,303,606
|
G
|
T
|
Benign
|
218862
|
criteria_provided,_multiple_submitters,_no_conflicts
|
intron_variant,missense_variant
|
1
| 10,321,829
|
A
|
G
|
Benign
|
240957
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 10,337,509
|
A
|
G
|
Benign
|
291567
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 10,345,923
|
T
|
C
|
Benign
|
2445412
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 10,368,512
|
G
|
A
|
Benign
|
240959
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 10,461,512
|
C
|
T
|
Benign
|
786715
|
criteria_provided,_single_submitter
|
3_prime_UTR_variant,missense_variant
|
1
| 10,463,076
|
T
|
A
|
Benign
|
791778
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 10,463,569
|
A
|
G
|
Benign
|
777880
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 10,623,109
|
G
|
A
|
Benign
|
291677
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 10,639,009
|
G
|
C
|
Benign
|
1294667
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 10,639,068
|
G
|
T
|
Benign
|
2160262
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 10,639,987
|
A
|
C
|
Benign
|
1599392
|
criteria_provided,_single_submitter
|
missense_variant
|
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